diff --git a/efo-base.owl b/efo-base.owl index f986c5bf..47891632 100644 --- a/efo-base.owl +++ b/efo-base.owl @@ -28,7 +28,7 @@ xmlns:ncbitaxon="http://purl.obolibrary.org/obo/ncbitaxon#" xmlns:mondo-base="http://purl.obolibrary.org/obo/mondo/mondo-base#"> - + 1.4 Catherine Leroy Dani Welter @@ -53,8 +53,8 @@ Licensed under the Apache License, Version 2.0 (the "License"); you may not use this file except in compliance with the License. You may obtain a copy of the License at http://www.apache.org/licenses/LICENSE-2.0 Unless required by applicable law or agreed to in writing, software distributed under the License is distributed on an "AS IS" BASIS, WITHOUT WARRANTIES OR CONDITIONS OF ANY KIND, either express or implied. See the License for the specific language governing permissions and limitations under the License. www.apache.org/licenses/LICENSE-2.0 - 2024-11-07 - 3.71.0 + 2024-11-18 + 3.72.0 @@ -3727,12 +3727,6 @@ License. - - - - - - @@ -17170,7 +17164,6 @@ http://purl.obolibrary.org/obo/NCBITaxon_3702 A neoplasm of follicle center B cells which has at least a partial follicular pattern. Follicular lymphomas comprise about 35% of adult non-Hodgkin lymphomas in the U.S. and 22% worldwide. Most patients have widespread disease at diagnosis. Morphologically, follicular lymphomas are classified as Grade 1, Grade 2, and Grade 3, depending on the percentage of the large lymphocytes present. The vast majority of cases (70-95%) express the BCL-2 rearrangement [t(14;18)]. Histological grade correlates with prognosis. Grades 1 and 2 follicular lymphomas are indolent and grade 3 is more aggressive (adapted from WHO, 2001). - A neoplasm of follicle centre B cells which has at least a partial follicular pattern. Follicular lymphomas comprise about 35% of adult non-Hodgkin lymphomas in the U.S. and 22% worldwide. Most patients have widespread disease at diagnosis. Morphologically, follicular lymphomas are classified as Grade 1, Grade 2, and Grade 3, depending on the percentage of the large lymphocytes present. The vast majority of cases (70-95%) express the BCL-2 rearrangement [t(14;18)]. Histological grade correlates with prognosis. Grades 1 and 2 follicular lymphomas are indolent and grade 3 is more aggressive (adapted from WHO, 2001). true DOID:706 EFO:0000096 @@ -17204,13 +17197,6 @@ http://purl.obolibrary.org/obo/NCBITaxon_3702 - - - - NCIT:C3457 - EFO:0000096 - MONDO:directSiblingOf - @@ -17296,12 +17282,6 @@ http://purl.obolibrary.org/obo/NCBITaxon_3702 A neoplasm of follicle center B cells which has at least a partial follicular pattern. Follicular lymphomas comprise about 35% of adult non-Hodgkin lymphomas in the U.S. and 22% worldwide. Most patients have widespread disease at diagnosis. Morphologically, follicular lymphomas are classified as Grade 1, Grade 2, and Grade 3, depending on the percentage of the large lymphocytes present. The vast majority of cases (70-95%) express the BCL-2 rearrangement [t(14;18)]. Histological grade correlates with prognosis. Grades 1 and 2 follicular lymphomas are indolent and grade 3 is more aggressive (adapted from WHO, 2001). NCIT:P378 - - - - A neoplasm of follicle centre B cells which has at least a partial follicular pattern. Follicular lymphomas comprise about 35% of adult non-Hodgkin lymphomas in the U.S. and 22% worldwide. Most patients have widespread disease at diagnosis. Morphologically, follicular lymphomas are classified as Grade 1, Grade 2, and Grade 3, depending on the percentage of the large lymphocytes present. The vast majority of cases (70-95%) express the BCL-2 rearrangement [t(14;18)]. Histological grade correlates with prognosis. Grades 1 and 2 follicular lymphomas are indolent and grade 3 is more aggressive (adapted from WHO, 2001). - NCIT:P378 - @@ -17335,6 +17315,13 @@ http://purl.obolibrary.org/obo/NCBITaxon_3702 DOID:706 MONDO:equivalentTo + + + + NCIT:C3457 + EFO:0000096 + MONDO:directSiblingOf + @@ -20885,7 +20872,6 @@ A Daudi Burkitt's lymphoma cell line is bearer of Daudi Burkitt's lymp - A malignant neoplasm characterized by a vascular proliferation which usually contains blunt endothelial cells. Erythrocyte extravasation and hemosiderin deposition are frequently present. The most frequent site of involvement is the skin; however it may also occur internally. It generally develops in people with compromised immune systems including those with acquired immune deficiency syndrome (AIDS). A multicentric, malignant neoplastic vascular proliferation characterized by bluish-red cutaneous nodules, usually on the legs, toes, or feet, that slowly increase in size and number and spread to more proximal sites. The tumors have endothelium-lined channels and vascular spaces mixed with aggregates of spindle-shaped cells; they may remain confined to skin and subcutaneous tissue, but widespread visceral involvement may occur. James Malone Tomasz Adamusiak @@ -21612,7 +21598,7 @@ New Label : MELAS syndrome - + An invasive adenocarcinoma composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. It may arise from the large and small intestine, appendix, stomach, lung, ovary, breast, corpus uteri, cervix, vagina, and salivary gland. @@ -21660,7 +21646,7 @@ New Label : MELAS syndrome - + @@ -21669,7 +21655,7 @@ New Label : MELAS syndrome - + NCIT:C26712 @@ -24127,8 +24113,6 @@ label: abdominal cavity - A stomach disease that is an inflammation of the lining of the stomach. - Inflammation of the GASTRIC MUCOSA, a lesion observed in a number of unrelated disorders. Inflammation of the stomach. James Malone gastritis (disease) @@ -25434,12 +25418,6 @@ label: abdominal cavity - - - - - Orphanet:514 - @@ -25877,6 +25855,12 @@ label: abdominal cavity leukemia, acute monocytic OMIM:151380 + + + + + Orphanet:514 + @@ -27374,7 +27358,7 @@ label: abdominal cavity - + @@ -27402,7 +27386,7 @@ label: abdominal cavity - + @@ -27415,7 +27399,7 @@ label: abdominal cavity - + EFO:0000784 @@ -30183,7 +30167,6 @@ see https://github.com/ebispot/efo/issues/1381 - A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma. A tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, and subependymal giant cell astrocytoma. DOID:3069 EFO:0000272 @@ -30235,13 +30218,6 @@ see https://github.com/ebispot/efo/issues/1381 NCIT:C60781 - - - - A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma. - NCIT:C6958 - https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23 - @@ -30720,7 +30696,7 @@ see https://github.com/ebispot/efo/issues/1381 - + @@ -30778,7 +30754,7 @@ see https://github.com/ebispot/efo/issues/1381 - + @@ -30792,7 +30768,7 @@ see https://github.com/ebispot/efo/issues/1381 - + EFO:0000784 @@ -31028,7 +31004,6 @@ Label: cardiac atrium - INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis. Inflammation of the pancreas. James Malone true @@ -31155,7 +31130,7 @@ Label: cardiac atrium - + @@ -31220,7 +31195,7 @@ Label: cardiac atrium - + @@ -31235,7 +31210,7 @@ Label: cardiac atrium - + EFO:0000784 @@ -31303,7 +31278,6 @@ Label: cardiac atrium - A condition with damage to the lining of the lower ESOPHAGUS resulting from chronic acid reflux (ESOPHAGITIS, REFLUX). Through the process of metaplasia, the squamous cells are replaced by a columnar epithelium with cells resembling those of the INTESTINE or the salmon-pink mucosa of the STOMACH. Barrett's columnar epithelium is a marker for severe reflux and precursor to ADENOCARCINOMA of the esophagus. Esophageal lesion lined with columnar metaplastic epithelium which is flat or villiform. Barrett epithelium is characterized by two different types of cells: goblet cells and columnar cells. The symptomatology of Barrett esophagus is that of gastro-esophageal reflux. It is the precursor of most esophageal adenocarcinomas. (WHO) James Malone https://github.com/monarch-initiative/mondo/issues/4521 @@ -31757,10 +31731,7 @@ Label: cardiac atrium - A disease caused by hyperplastic process of non-transformed prostatic cells. - A non-cancerous nodular enlargement of the prostate gland. It is characterized by the presence of epithelial cell nodules, and stromal nodules containing fibrous and smooth muscle elements. It is the most common urologic disorder in men, causing blockage of urine flow. A non-cancerous nodular enlargement of the prostate gland. It is characterized by the presence of epithelial cell nodules, and stromal nodules containing fibrous and smooth muscle elements. It is the most common urologic disorder in men, causing blockage of urine flow. - Increase in constituent cells in the PROSTATE, leading to enlargement of the organ (hypertrophy) and adverse impact on the lower urinary tract function. This can be caused by increased rate of cell proliferation, reduced rate of cell death, or both. James Malone Tomasz Adamusiak benign prostatic hyperplasia (disease) @@ -32744,7 +32715,7 @@ label: brain - + @@ -32773,7 +32744,7 @@ label: brain - + @@ -32798,7 +32769,7 @@ label: brain - + EFO:0000784 @@ -34087,7 +34058,7 @@ Use: http://purl.obolibrary.org/obo/MONDO_0004992 - + @@ -34140,7 +34111,7 @@ Use: http://purl.obolibrary.org/obo/MONDO_0004992 - + @@ -34165,7 +34136,7 @@ Use: http://purl.obolibrary.org/obo/MONDO_0004992 - + EFO:0000784 @@ -34417,7 +34388,6 @@ Label: cardiac ventricle A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive. - A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS). James Malone Tomasz Adamusiak true @@ -38271,7 +38241,6 @@ label: cingulate cortex - Primordium of the circular visceral muscle of the trunk. Becomes distinct from the rest of the trunk mesoderm by stage 11 when 2 distinct layers of trunk mesoderm are apparent, the inner of which is the circular visceral muscle primordium. By stage 12, these cells form a palisade consisting of a dorsal row an a ventral row of tightly packed cells. These cells adhere to the anterior and posterior midgut rudiments as they extend. During dorsal closure they spread out to encircle the midgut. Primordium of the circular visceral muscle of the trunk. Becomes distinct from the rest of the trunk mesoderm by stage 11 when two distinct layers of trunk mesoderm are apparent, the inner of which is the circular visceral muscle primordium. By stage 12, these cells form a palisade consisting of a dorsal row an a ventral row of tightly packed cells. These cells adhere to the anterior and posterior midgut rudiments as they extend. During dorsal closure they spread out to encircle the midgut. James Malone FBbt:00017015 @@ -40658,7 +40627,6 @@ label: corpus striatum - A chronic transmural inflammation that may involve any part of the DIGESTIVE TRACT from MOUTH to ANUS, mostly found in the ILEUM, the CECUM, and the COLON. In Crohn disease, the inflammation, extending through the intestinal wall from the MUCOSA to the serosa, is characteristically asymmetric and segmental. Epithelioid GRANULOMAS may be seen in some patients. A gastrointestinal disorder characterized by chronic inflammation involving all layers of the intestinal wall, noncaseating granulomas affecting the intestinal wall and regional lymph nodes, and transmural fibrosis. Crohn disease most commonly involves the terminal ileum; the colon is the second most common site of involvement. James Malone Tomasz Adamusiak @@ -41686,7 +41654,7 @@ New Label : Cystic fibrosis - + @@ -41771,7 +41739,7 @@ New Label : Cystic fibrosis - + @@ -41790,7 +41758,7 @@ New Label : Cystic fibrosis - + EFO:0000784 @@ -42038,7 +42006,6 @@ New Label : Cystic fibrosis - A heterogeneous group of disorders characterized by HYPERGLYCEMIA and GLUCOSE INTOLERANCE. A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization. James Malone https://github.com/monarch-initiative/mondo/issues/5723 @@ -43118,9 +43085,6 @@ New Label : Cystic fibrosis A disease or disorder that involves the digestive system. - Chronic or recurrent gastrointestinal disorders without an identifiable structural or biochemical explanation by the routine diagnostic tests. Functional gastrointestinal disorders are classified according to the presumed site of the disorder, such as IRRITABLE BOWEL SYNDROME, non-ulcer DYSPEPSIA, and non-cardiac CHEST PAIN. - Diseases in any part of the GASTROINTESTINAL TRACT or the accessory organs (LIVER; BILIARY TRACT; PANCREAS). - Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM. James Malone Tomasz Adamusiak true @@ -46055,8 +46019,6 @@ New Label : Emery-Dreifuss muscular dystrophy A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions. - A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy) (MeSH). - A disorder characterized by recurrent seizures James Malone Tomasz Adamusiak @@ -47159,7 +47121,7 @@ New Label : Emery-Dreifuss muscular dystrophy - + @@ -47197,7 +47159,7 @@ New Label : Emery-Dreifuss muscular dystrophy - + @@ -47210,7 +47172,7 @@ New Label : Emery-Dreifuss muscular dystrophy - + https://orcid.org/0000-0002-6601-2165 @@ -51347,7 +51309,6 @@ New Label : Huntington disease - Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more. Persistently high systemic arterial blood pressure. Based on multiple readings (blood pressure determination), hypertension is currently defined as when systolic pressure is consistently greater than 140 mm Hg or when diastolic pressure is consistently 90 mm Hg or more. James Malone true @@ -53580,7 +53541,6 @@ label: inner cell mass - A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6) Juvenile dermatomyositis (JDM) is the early-onset form of dermatomyositis (DM), a systemic, autoimmune inflammatory muscle disorder, characterized by proximal muscle weakness, evocative skin lesion, and systemic manifestations. James Malone true @@ -54752,7 +54712,7 @@ label: inner cell mass - + @@ -54788,7 +54748,7 @@ label: inner cell mass - + @@ -54797,7 +54757,7 @@ label: inner cell mass - + NCIT:C6875 @@ -56874,9 +56834,7 @@ label: inner cell mass - A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord. Inflammation of the meninges of the brain and/or spinal cord caused by an infectious agent (viral, bacterial, or fungal). Symptoms include headache, fever, vomiting, neck stiffness, photophobia, confusion, and seizures. - Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents. James Malone https://github.com/monarch-initiative/mondo/issues/5537 true @@ -57238,10 +57196,7 @@ label: inner cell mass - A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process. -- 2003 A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process. - A disease that involving errors in metabolic processes. - Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed) James Malone true DOID:0014667 @@ -57825,7 +57780,7 @@ Dorso-ventral vaginal septa is observed in some BALB/cJ females, and may contrib - + @@ -57893,7 +57848,7 @@ Dorso-ventral vaginal septa is observed in some BALB/cJ females, and may contrib - + @@ -57906,7 +57861,7 @@ Dorso-ventral vaginal septa is observed in some BALB/cJ females, and may contrib - + EFO:0000784 @@ -58912,9 +58867,6 @@ see https://github.com/ebispot/efo/issues/1381 - A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome (MeSH). - A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2099-2101; Curr Opin Oncol 1998 Jan;10(1):43-51) - A neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation. Neuroblastoma (NB) is the most common solid, extracranial childhood tumor. It is an aggressive pediatric cancer that originates from neural crest tissues of the sympathetic nervous system. James Malone Tomasz Adamusiak @@ -61922,7 +61874,6 @@ see https://github.com/ebispot/efo/issues/1381 - A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading. A disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and abnormal menstrual periods, excess growth of hair, acne eruptions and obesity. James Malone Tomasz Adamusiak @@ -62233,10 +62184,7 @@ see https://github.com/ebispot/efo/issues/1381 - A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations. - A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations. -- 2004 A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations. - Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base. James Malone true @@ -63418,8 +63366,6 @@ New Label : Hutchinson-Gilford progeria syndrome A disease that has its basis in the disruption of mental process. - Disorders in which there is a loss of ego boundaries or a gross impairment in reality testing with delusions or prominent hallucinations. (From DSM-IV, 1994) - Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH). James Malone Tomasz Adamusiak A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture. @@ -64220,7 +64166,7 @@ New Label : Hutchinson-Gilford progeria syndrome - + @@ -64342,14 +64288,14 @@ New Label : Hutchinson-Gilford progeria syndrome - + - + EFO:0000784 NCIT:C26871 @@ -64629,10 +64575,7 @@ New Label : Hutchinson-Gilford progeria syndrome - A chronic systemic disease, primarily of the joints, marked by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. Etiology is unknown, but autoimmune mechanisms have been implicated. A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor. - An arthritis that results_from an autoimmune disease which attacks healthy cells and tissue located_in joint. - Rheumatoid arthritis is a rheumatologic disorder described as an autoimmune disease that is usually a chronic disease and is characterized especially by pain, stiffness, inflammation, swelling, and sometimes destruction of joints. James Malone Tomasz Adamusiak https://github.com/monarch-initiative/mondo/issues/4521 @@ -66189,7 +66132,7 @@ New Label : Sickle cell anemia - + @@ -66267,7 +66210,7 @@ New Label : Sickle cell anemia - + @@ -66293,7 +66236,7 @@ New Label : Sickle cell anemia - + PMID:10845583 @@ -68095,7 +68038,7 @@ New Label : Sickle cell anemia - + @@ -68195,7 +68138,7 @@ New Label : Sickle cell anemia - + @@ -68209,7 +68152,7 @@ New Label : Sickle cell anemia - + EFO:0000784 @@ -68341,14 +68284,13 @@ New Label : Sickle cell anemia - + - Bleeding into the intracranial or spinal SUBARACHNOID SPACE, most resulting from INTRACRANIAL ANEURYSM rupture. It can occur after traumatic injuries (SUBARACHNOID HEMORRHAGE, TRAUMATIC). Clinical features include HEADACHE; NAUSEA; VOMITING, nuchal rigidity, variable neurological deficits and reduced mental status. Intracranial hemorrhage into the subarachnoid space. James Malone subarachnoid hemorrhage (disease) @@ -68415,7 +68357,7 @@ New Label : Sickle cell anemia - + @@ -68429,7 +68371,7 @@ New Label : Sickle cell anemia - + EFO:0000784 @@ -69097,7 +69039,6 @@ New Label : Sickle cell anemia An inflammatory bowel disease involving the mucosal surface of the large intestine and rectum. It may present with an acute or slow onset and follows an intermittent or continuous course. Signs and symptoms include abdominal pain, diarrhea, fever, weight loss, and intestinal hemorrhage. - Inflammation of the COLON that is predominantly confined to the MUCOSA. Its major symptoms include DIARRHEA, rectal BLEEDING, the passage of MUCUS, and ABDOMINAL PAIN. James Malone Sirarat Sarntivijai Tomasz Adamusiak @@ -73268,9 +73209,7 @@ New Label : Familial leiomyomatosis - A Herpesviridae infectious disease that results_in infection, has_agent Human herpesvirus 4, which is transmitted_by contact with the saliva. An infection that is caused by Epstein-Barr virus. - Infection with human herpesvirus 4 (HERPESVIRUS 4, HUMAN); which may facilitate the development of various lymphoproliferative disorders. These include BURKITT LYMPHOMA (African type), INFECTIOUS MONONUCLEOSIS, and oral hairy leukoplakia (LEUKOPLAKIA, HAIRY). James Malone true DOID:2938 @@ -73860,7 +73799,6 @@ New Label : Familial leiomyomatosis - Infections with bacteria of the species STREPTOCOCCUS PNEUMONIAE. Infections with bacteria of the species streptococcus pneumoniae. James Malone true @@ -74376,14 +74314,13 @@ New Label : Tuberculosis - + - A chronic systemic infection by a gram-positive bacterium, Tropheryma whippelii, mainly affecting the SMALL INTESTINE but also the JOINTS; CARDIOVASCULAR SYSTEM; and the CENTRAL NERVOUS SYSTEM. The disease is characterized by fat deposits in the INTESTINAL MUCOSA and LYMPH NODES, malabsorption, DIARRHEA with fatty stools, MALNUTRITION, and ARTHRITIS. A systemic infection caused by the Gram-positive bacterium Tropheryma whipplei. It affects the small intestine resulting in malabsorption. Other sites or systems affected by the infection are the joints, central nervous system, and the cardiovascular system. James Malone DOID:8476 @@ -74445,7 +74382,7 @@ New Label : Tuberculosis - + @@ -74471,7 +74408,7 @@ New Label : Tuberculosis - + EFO:0000784 @@ -74754,7 +74691,7 @@ New Label : Tuberculosis - + @@ -74793,14 +74730,14 @@ New Label : Tuberculosis - + - + EFO:0000784 Wikipedia:Human_granulocytic_anaplasmosis @@ -75313,7 +75250,7 @@ Leaves of infected Abelmoschus manihot plants are usually chlorotic, and the chl - + @@ -75413,7 +75350,7 @@ Leaves of infected Abelmoschus manihot plants are usually chlorotic, and the chl - + @@ -75432,7 +75369,7 @@ Leaves of infected Abelmoschus manihot plants are usually chlorotic, and the chl - + EFO:0000784 @@ -82165,7 +82102,6 @@ label: penis - A principal or polar form of LEPROSY in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (LEPROSY, LEPROMATOUS), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others. A principal or polar form of leprosy in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (leprosy, lepromatous), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others. James Malone DOID:1025 @@ -82335,7 +82271,6 @@ label: penis - A chronic communicable infection which is a principal or polar form of LEPROSY. This disorder is caused by MYCOBACTERIUM LEPRAE and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage. A chronic communicable infection which is a principal or polar form of leprosy. This disorder is caused by mycobacterium leprae and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage. James Malone DOID:10887 @@ -83146,9 +83081,7 @@ see https://github.com/ebispot/efo/issues/1381 - A Herpesviridae infectious disease that results_in infection in animals and humans, has_agent Cytomegalovirus, which is transmitted_by contact with the infected person's bodily fluids or transmitted_by sexual contact, or transmitted_by blood transfusions. A herpesvirus infection caused by Cytomegalovirus. Healthy individuals generally do not produce symptoms. However, the infection may be life-threatening in affected immunocompromised patients. The virus may cause retinitis, esophagitis, gastritis, and colitis. Morphologically, it is characterized by the presence of intranuclear inclusion bodies. - Infection with CYTOMEGALOVIRUS, characterized by enlarged cells bearing intranuclear inclusions. Infection may be in almost any organ, but the salivary glands are the most common site in children, as are the lungs in adults. James Malone true ICD10:B25 @@ -85145,10 +85078,7 @@ see https://github.com/ebispot/efo/issues/1381 - A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY). An excess of body weight, normally defined as an individual with a body mass index greater than 35 or a body weight greater than one hundred percent of ideal body weight. - Extreme form of obesity where body bass index is 40 or more, which is roughly equivalent to 100 pounds or more over ideal body weight. - The condition of weighing two, three, or more times the ideal weight, so called because it is associated with many serious and life-threatening disorders. In the BODY MASS INDEX, morbid obesity is defined as having a BMI greater than 40.0 kg/m2. James Malone Tomasz Adamusiak DOID:11981 @@ -94279,7 +94209,6 @@ label: ileum An instance of amyotrophic lateral sclerosis that is caused by an inherited modification of the individual's genome. - Familial amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which a family history of the disease exists. James Malone Tomasz Adamusiak @@ -98994,7 +98923,6 @@ label: masseter muscle A control role is borne by a material in a process in which results obtained from an experimental sample and a control sample are compared. - The act of directing or determining; regulation or maintenance of a function or action; a relation of constraint of one entity (thing or person or group) by another. James Malone NCIt:C61299 SNOMEDCT:246106000 @@ -99555,7 +99483,7 @@ A cancer cell line is a cell line. - + @@ -99650,7 +99578,7 @@ A cancer cell line is a cell line. - + @@ -99673,7 +99601,7 @@ A cancer cell line is a cell line. - + EFO:0000784 @@ -100648,7 +100576,6 @@ label: primordium - A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact. An infectious process caused by a human papillomavirus. This infection can cause abnormal tissue growth. James Malone true @@ -100867,7 +100794,6 @@ label: mediastinal lymph node A morphology quality inhering in a bearer by virtue of the bearer's physical magnitude. - Size is a morphology quality which describes a material entity's physical magnitude. James Malone NCIt:C25681 PATO:0000117 @@ -100929,7 +100855,6 @@ label: mediastinal lymph node A 3-D extent quality inhering in a bearer by virtue of the bearer's amount of 3-dimensional space it occupies. - A volume is a size quality which describes the amount of 3-dimensional space an object occupies. James Malone Tomasz Adamusiak NCIt:C25335 @@ -122088,7 +122013,6 @@ A Jiyoye is bearer of a Burkitt's lymphoma. A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths. - Neoplasms which arise from peripheral nerve tissue. This includes NEUROFIBROMAS; SCHWANNOMAS; GRANULAR CELL TUMORS; and malignant peripheral NERVE SHEATH NEOPLASMS. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp1750-1) James Malone Tomasz Adamusiak DOID:1192 @@ -123408,7 +123332,7 @@ label: supraoptic nucleus - + @@ -123424,7 +123348,7 @@ label: supraoptic nucleus EFO:0002498 aggressive insulitis - + @@ -123437,7 +123361,7 @@ label: supraoptic nucleus - + EFO:0000784 @@ -124287,7 +124211,7 @@ label: supraoptic nucleus - + @@ -124306,7 +124230,7 @@ label: supraoptic nucleus Benign insulitis describes the process of benign autoreactive T cells infiltrating islets of langerhans, prior to destructive insulitis. benign insulitis - + @@ -124319,7 +124243,7 @@ label: supraoptic nucleus - + EFO:0000784 @@ -126534,8 +126458,6 @@ label: aorta endothelium - A HIV encephalopathy and is_a brain disease that results_in infection in adults located_in brain, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems. - A brain disease and is_a HIV encephalopathy that results_in infection in adults located_in brain, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems. A neurologic condition associated with the ACQUIRED IMMUNODEFICIENCY SYNDROME and characterized by impaired concentration and memory, slowness of hand movements, ATAXIA, incontinence, apathy, and gait difficulties associated with HIV-1 viral infection of the central nervous system. Pathologic examination of the brain reveals white matter rarefaction, perivascular infiltrates of lymphocytes, foamy macrophages, and multinucleated giant cells. (From Adams et al., Principles of Neurology, 6th ed, pp760-1; N Engl J Med, 1995 Apr 6;332(14):934-40) Ele Holloway Tomasz Adamusiak @@ -128537,7 +128459,7 @@ New Label : Pituitary adenoma - + @@ -128568,14 +128490,14 @@ New Label : Pituitary adenoma - + - + EFO:0000784 @@ -128662,7 +128584,7 @@ New Label : Pituitary adenoma - + Septic peritonitis is an inflammatory condition of the peritoneum that occurs secondary to microbial contamination. This clinically important condition has a wide variety of clinical courses as well as high morbidity and mortality due to secondary multiorgan dysfunction. This article reviews the etiology and pathophysiology of this condition and its diagnosis in small animals; a companion article addresses treatment and prognosis. Ele Holloway Sirarat Sarntivijai @@ -128679,7 +128601,7 @@ New Label : Pituitary adenoma - + @@ -128692,7 +128614,7 @@ New Label : Pituitary adenoma - + EFO:0000784 @@ -129576,7 +129498,6 @@ It may occur in childbearing women of any age, but it is most common after age 3 An dilated cardiomyopathy caused by infection with Viruses. - Viral cardiomyopathy occurs when viral infections cause myocarditis with a resulting thickening of the myocardium and dilation of the ventricles. These viruses include Coxsackie B and adenovirus, echoviruses, influenza H1N1, Epstein-Barr virus, rubella (German measles virus), varicella (chickenpox virus), mumps, measles, parvoviruses, yellow fever, dengue fever, polio, rabies and the viruses that cause hepatitis A and C Sirarat Sarntivijai Tomasz Adamusiak MEDGEN:538852 @@ -133075,7 +132996,6 @@ label: chorion - HL-60 is a cell line which is the bearer of human acute myeloid leukemia established from the peripheral blood of a 35-year-old woman with acute myeloid leukemia (AML FAB M2) in 1976. Human acute myeloid leukemia established from the peripheral blood of a 35-year-old woman with acute myeloid leukemia (AML FAB M2) in 1976. https://www.sigmaaldrich.com/catalog/product/sigma/cb_98070106?lang=en&region=US&gclid=EAIaIQobChMIw-Pa7aCq3wIVEMRkCh2bGA2iEAAYAiAAEgKrzPD_BwE BTO:0000738 @@ -149704,7 +149624,6 @@ New Label : X-linked agammaglobulinemia A high-grade subtype of liposarcoma (LS) that progresses from well-differentiated liposarcoma (WDLS), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS. - Dedifferentiated liposarcoma (DDLS) is a high-grade subtype of liposarcoma (LS) that progresses from well-differentiated liposarcoma (WDLS), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS. https://github.com/monarch-initiative/mondo/issues/6959 DOID:0080531 EFO:0003085 @@ -149757,12 +149676,6 @@ New Label : X-linked agammaglobulinemia A high-grade subtype of liposarcoma (LS) that progresses from well-differentiated liposarcoma (WDLS), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS. Orphanet:99970 - - - - Dedifferentiated liposarcoma (DDLS) is a high-grade subtype of liposarcoma (LS) that progresses from well-differentiated liposarcoma (WDLS), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS. - Orphanet:99970 - @@ -150874,8 +150787,8 @@ Label : adrenal cortex carcinoma - - + + @@ -150945,11 +150858,11 @@ Label : adrenal cortex carcinoma - + - + @@ -150964,13 +150877,13 @@ Label : adrenal cortex carcinoma - + EFO:0000784 - + EFO:0000784 @@ -151125,7 +151038,6 @@ Label : adrenal cortex carcinoma An accumulation of pus in a body cavity, usually the pleural space. - An accumulation of pus, usually in a body cavity Tomasz Adamusiak ICD9:510 MEDGEN:8597 @@ -154791,7 +154703,7 @@ New Label : Nasu-Hakola disease - + @@ -154843,7 +154755,7 @@ New Label : Nasu-Hakola disease - + @@ -154857,7 +154769,7 @@ New Label : Nasu-Hakola disease - + EFO:0000784 @@ -164198,7 +164110,6 @@ Please use: http://purl.obolibrary.org/obo/MONDO_0002009 A brief attack (from a few minutes to an hour) of cerebral dysfunction of vascular origin, with no persistent neurological deficit. - Brief reversible episodes of focal, nonconvulsive ischemic dysfunction of the brain having a duration of less than 24 hours, and usually less than one hour, caused by transient thrombotic or embolic blood vessel occlusion or stenosis. Events may be classified by arterial distribution, temporal pattern, or etiology (e.g., embolic vs. thrombotic). (From Adams et al., Principles of Neurology, 6th ed, pp814-6) Tomasz Adamusiak transient ischemic attack (disease) true @@ -164545,7 +164456,6 @@ Use http://purl.obolibrary.org/obo/HP_0002027 - A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. --2003[accessedResource: NCIt:C3138][accessDate: 05-04-2011] A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. Tomasz Adamusiak true @@ -164710,9 +164620,7 @@ Use http://purl.obolibrary.org/obo/HP_0002027 - Inhaling and exhaling the smoke of tobacco or something similar to tobacco. Physical and psychological dependence on nicotine. - Tobacco used to the detriment of a person's health or social functioning. Tobacco dependence is included. Tomasz Adamusiak https://github.com/monarch-initiative/mondo/issues/4521 @@ -166378,7 +166286,7 @@ Label : Autosomal dominant hyper-IgE syndrome - + @@ -166391,9 +166299,7 @@ Label : Autosomal dominant hyper-IgE syndrome - A autoimmune disease of cardiovascular system and is_a vasculitis that causes chronic inflammation in blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis. A chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations. - Rare chronic inflammatory disease involving the small blood vessels. It is of unknown etiology and characterized by mucocutaneous ulceration in the mouth and genital region and uveitis with hypopyon. The neuro-ocular form may cause blindness and death. SYNOVITIS; THROMBOPHLEBITIS; gastrointestinal ulcerations; RETINAL VASCULITIS; and OPTIC ATROPHY may occur as well. Tomasz Adamusiak @@ -166464,7 +166370,7 @@ Label : Autosomal dominant hyper-IgE syndrome - + @@ -166483,7 +166389,7 @@ Label : Autosomal dominant hyper-IgE syndrome - + EFO:0000784 @@ -167062,7 +166968,6 @@ Label : Autosomal dominant hyper-IgE syndrome - Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089) Neurological disease involving the motor neuron. Tomasz Adamusiak DOID:231 @@ -169045,7 +168950,6 @@ see https://github.com/ebispot/efo/issues/1381 A benign or malignant neoplasm involving the larynx. - Cancers or tumors of the LARYNX or any of its parts: the GLOTTIS; EPIGLOTTIS; LARYNGEAL CARTILAGES; LARYNGEAL MUSCLES; and VOCAL CORDS. Tomasz Adamusiak true DOID:2596 @@ -170165,7 +170069,6 @@ see https://github.com/ebispot/efo/issues/1381 A neoplasm (disease) that involves the eye. - Tumors or cancer of the EYE. Tomasz Adamusiak true ICD10:C69 @@ -170548,14 +170451,13 @@ see https://github.com/ebispot/efo/issues/1381 - + - Blocking of the PULMONARY ARTERY or one of its branches by an EMBOLUS. The obstruction of the pulmonary artery or one of its branches by an embolus, sometimes associated with infarction of the lung. Tomasz Adamusiak pulmonary embolism (disease) @@ -170604,7 +170506,7 @@ see https://github.com/ebispot/efo/issues/1381 - + @@ -170617,7 +170519,7 @@ see https://github.com/ebispot/efo/issues/1381 - + EFO:0000784 @@ -173084,7 +172986,6 @@ see https://github.com/ebispot/efo/issues/1381 A neoplasm (disease) that involves the urethra. - Cancer or tumors of the URETHRA. Benign epithelial tumors of the urethra usually consist of squamous and transitional cells. Primary urethral carcinomas are rare and typically of squamous cells. Urethral carcinoma is the only urological malignancy that is more common in females than in males. Tomasz Adamusiak DOID:734 MEDGEN:12014 @@ -174837,7 +174738,6 @@ Use: http://purl.obolibrary.org/obo/HP_0001249 A rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth. - Persistent flexure or contracture of a joint. (Dorland, 27th ed) Tomasz Adamusiak MEDGEN:2455 MESH:D001176 @@ -174996,7 +174896,6 @@ Use: http://purl.obolibrary.org/obo/HP_0001249 A neoplasm (disease) that involves the uterus. - Tumors of the UTERUS. Tomasz Adamusiak true DOID:363 @@ -176411,7 +176310,6 @@ label: genitourinary system A benign or malignant neoplasm of the breast parenchyma. It can originate from the ducts, lobules or the breast adipose tissue. Breast neoplasms are much more common in females than males. - Abnormal growth located in the breast or mammory gland. Tomasz Adamusiak true HP:0100013 @@ -176619,7 +176517,7 @@ label: genitourinary system - + @@ -176695,7 +176593,7 @@ label: genitourinary system - + @@ -176708,7 +176606,7 @@ label: genitourinary system - + EFO:0000784 @@ -176974,7 +176872,7 @@ label: genitourinary system - + @@ -176990,7 +176888,6 @@ label: genitourinary system - Inflammation of the COLON section of the large intestine (INTESTINE, LARGE), usually with symptoms such as DIARRHEA (often with blood and mucus), ABDOMINAL PAIN, and FEVER. Inflammation of the colon. Tomasz Adamusiak colitis (disease) @@ -177024,7 +176921,7 @@ label: genitourinary system - + @@ -177036,7 +176933,7 @@ label: genitourinary system - + EFO:0000784 @@ -178153,7 +178050,6 @@ label: genitourinary system - Inflammation involving the URETHRA. Similar to CYSTITIS, clinical symptoms range from vague discomfort to painful urination (DYSURIA), urethral discharge, or both. Inflammation of the urethra. Tomasz Adamusiak urethritis (disease) @@ -178606,7 +178502,6 @@ label: aortic valve A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss). - Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis. Tomasz Adamusiak https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 @@ -180934,7 +180829,6 @@ label: metacarpal bone - Broken bones in the vertebral column. Traumatic or pathological injury to the spine in which the continuity of a vertebral bone is broken. Symptoms include back pain and difficulty bending and twisting. Tomasz Adamusiak true @@ -181215,7 +181109,7 @@ New Label : Von Willebrand disease - + @@ -181260,7 +181154,7 @@ New Label : Von Willebrand disease - + @@ -181273,7 +181167,7 @@ New Label : Von Willebrand disease - + EFO:0000784 @@ -181503,7 +181397,6 @@ New Label : Von Willebrand disease - A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA. Build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Tomasz Adamusiak true @@ -182059,7 +181952,7 @@ New Label : Von Willebrand disease - + @@ -182097,14 +181990,14 @@ New Label : Von Willebrand disease - + - + EFO:0000784 @@ -182861,7 +182754,6 @@ Use: http://purl.obolibrary.org/obo/GO_0042697 Infection caused by bacterial overgrowth in the vagina. Most affected women are asymptomatic. When symptoms occur, they include foul-smelling vaginal discharge, vaginal itching, and burning. Risk factors include sexual activity with multiple partners and the use of vaginal douches and intrauterine devices. Up to a third of cases resolve without treatment. Antibiotic treatment is recommended when symptoms are present and for women that are pregnant at the time of infection. - Polymicrobial, nonspecific vaginitis associated with positive cultures of Gardnerella vaginalis and other anaerobic organisms and a decrease in lactobacilli. It remains unclear whether the initial pathogenic event is caused by the growth of anaerobes or a primary decrease in lactobacilli. Tomasz Adamusiak BV DOID:3385 @@ -183082,7 +182974,7 @@ label: mitral valve - + @@ -183131,7 +183023,7 @@ label: mitral valve - + @@ -183144,7 +183036,7 @@ label: mitral valve - + EFO:0000784 @@ -183273,11 +183165,11 @@ label: mitral valve A glycoprotein migrating as a beta-globulin. Its molecular weight, 52,000 or 95,000-115,000, indicates that it exists as a dimer. The protein binds testosterone, dihydrotestosterone, and estradiol in the plasma. Sex hormone-binding protein has the same amino acid sequence as ANDROGEN-BINDING PROTEIN. They differ by their sites of synthesis and post-translational oligosaccharide modifications. - http://en.wikipedia.org/wiki/Sex_hormone-binding_globulin Tomasz Adamusiak http://en.wikipedia.org/wiki/Sex_hormone-binding_globulin MeSH:D012738 NCIt:C17128 + Wikipedia:Sex_hormone-binding_globulin Binding Globulin, Testosterone-Estradiol Globulin, Sex Hormone-Binding Globulin, Testosterone-Estradiol Binding @@ -183326,7 +183218,7 @@ label: mitral valve - + @@ -183359,7 +183251,7 @@ label: mitral valve - + @@ -183373,7 +183265,7 @@ label: mitral valve - + EFO:0000784 @@ -183444,7 +183336,7 @@ label: mitral valve - + @@ -183476,7 +183368,7 @@ label: mitral valve - + @@ -183491,7 +183383,7 @@ label: mitral valve - + EFO:0000784 @@ -184071,7 +183963,6 @@ New Label : Treacher-Collins syndrome Bacterial diseases that are potentially transmitted or propagated by sexual conduct. - Bacterial diseases transmitted or propagated by sexual conduct. Tomasz Adamusiak ICD10:A63 MEDGEN:20728 @@ -184594,14 +184485,13 @@ New Label : Treacher-Collins syndrome - + - Fractures of the FEMUR HEAD; the FEMUR NECK; (FEMORAL NECK FRACTURES); the trochanters; or the inter- or subtrochanteric region. Excludes fractures of the acetabulum and fractures of the femoral shaft below the subtrochanteric region (FEMORAL FRACTURES). Traumatic or pathological injury to the hip in which the continuity of either the femoral head, femoral neck, intertrochanteric or subtrochanteric regions is broken. Symptoms include pain in the hip or groin, bruising and swelling in and around the hip area. The injured hip is turned outward and the leg appears shorter on that side. Tomasz Adamusiak true @@ -184627,7 +184517,7 @@ New Label : Treacher-Collins syndrome - + @@ -184641,7 +184531,7 @@ New Label : Treacher-Collins syndrome - + EFO:0000784 @@ -184734,7 +184624,7 @@ New Label : Treacher-Collins syndrome - + @@ -184810,7 +184700,7 @@ New Label : Treacher-Collins syndrome - + @@ -184824,7 +184714,7 @@ New Label : Treacher-Collins syndrome - + NCIT:C26767 @@ -188173,7 +188063,7 @@ label: perineum - + @@ -188225,7 +188115,7 @@ label: perineum - + @@ -188237,7 +188127,7 @@ label: perineum - + EFO:0004142 @@ -189188,7 +189078,6 @@ New Label : Alagille syndrome A neurological condition affecting the involuntary movements. It is characterized by brief, non-repetitive irregular muscle contractions. It is seen in patients with Huntington's disease. - Chorea is a movement disease characterized by brief, quasi-purposeful, irregular contractions that are not repetitive or rhythmic, but appear to flow from one muscle to the next. DOID:12859 GARD:15152 @@ -189999,7 +189888,6 @@ For instance, physical shearing can be done by probe sonication and nebulization Chronic outflow obstruction of the eye's drainage canals that can lead to increased internal eye pressure and optic nerve damage. - Glaucoma in which the angle of the anterior chamber is open and the trabecular meshwork does not encroach on the base of the iris. Dani Welter https://github.com/monarch-initiative/mondo/issues/2507 true @@ -193072,7 +192960,6 @@ New Label : Keratoconus - Spasm of the large- or medium-sized coronary arteries. Sudden coronary artery smooth muscle contraction leading to lumen constriction and decreased blood flow. Dani Welter true @@ -193196,7 +193083,6 @@ New Label : Keratoconus - A rare transmissible encephalopathy most prevalent between the ages of 50 and 70 years. Affected individuals may present with sleep disturbances, personality changes, ATAXIA; APHASIA, visual loss, weakness, muscle atrophy, MYOCLONUS, progressive dementia, and death within one year of disease onset. A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) have been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS. (From N Engl J Med, 1998 Dec 31;339(27)). A rare transmittable degenerative disorder of the brain caused by prions. Morphologically it is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Signs and symptoms include sleep disturbances, personality changes, aphasia, ataxia, muscle atrophy and weakness, visual loss, and myoclonus. It usually leads to death within a year from the onset of the disease. Dani Welter true @@ -194742,7 +194628,6 @@ label: brachial artery - A general term for the complete or partial loss of the ability to hear from one or both ears. A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central. Dani Welter @@ -195606,7 +195491,7 @@ New Label : Hirschsprung disease - + @@ -195651,7 +195536,7 @@ New Label : Hirschsprung disease - + @@ -195667,7 +195552,7 @@ New Label : Hirschsprung disease - + https://orcid.org/0000-0002-6601-2165 @@ -195802,7 +195687,6 @@ New Label : Hirschsprung disease - An acute, febrile, mucocutaneous condition accompanied by swelling of cervical lymph nodes in infants and young children. The principal symptoms are fever, congestion of the ocular conjunctivae, reddening of the lips and oral cavity, protuberance of tongue papillae, and edema or erythema of the extremities. Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood. Dani Welter true @@ -198689,7 +198573,6 @@ New Label : Moyamoya disease - A disease marked by repeated episodes of increased bone resorption followed by excessive attempts at repair, resulting in weakened, deformed bones of increased mass. The resultant architecture of the bone assumes a mosaic pattern in which the fibers take on a haphazard pattern instead of the normal parallel symmetry. A disease of bone that initially results in the excessive resorption of bone (by osteoclasts) followed by the replacement of normal bone marrow with vascular and fibrous tissue. Dani Welter https://github.com/monarch-initiative/mondo/issues/7006 @@ -198892,7 +198775,6 @@ New Label : Moyamoya disease - A type of anxiety disorder characterized by unexpected panic attacks that last minutes or, rarely, hours. Panic attacks begin with intense apprehension, fear or terror and, often, a feeling of impending doom. Symptoms experienced during a panic attack include dyspnea or sensations of being smothered; dizziness, loss of balance or faintness; choking sensations; palpitations or accelerated heart rate; shakiness; sweating; nausea or other form of abdominal distress; depersonalization or derealization; paresthesias; hot flashes or chills; chest discomfort or pain; fear of dying and fear of not being in control of oneself or going crazy. Agoraphobia may also develop. Similar to other anxiety disorders, it may be inherited as an autosomal dominant trait. An anxiety disorder characterized by multiple unexpected panic attacks with persistent concern of recurring attacks. Panic disorder may or may not be accompanied by agoraphobia. Dani Welter Gautier Koscielny @@ -199224,7 +199106,7 @@ New Label : Moyamoya disease - + A general term used to describe any disease affecting blood vessels]. It includes vascular abnormalities caused by degenerative, metabolic and inflammatory conditions, embolic diseases, coagulative disorders, and functional disorders such as posteri or reversible encephalopathy syndrome. Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body. Dani Welter @@ -199269,7 +199151,7 @@ New Label : Moyamoya disease - + @@ -199286,7 +199168,7 @@ New Label : Moyamoya disease - + NCIT:C35117 @@ -199900,7 +199782,7 @@ New Label : Moyamoya disease - + @@ -199908,7 +199790,6 @@ New Label : Moyamoya disease A chronic, autoimmune inflammatory liver disorder characterized by narrowing and scarring of the lumen of the bile ducts. It is often seen in patients with ulcerative colitis. Signs and symptoms include jaundice, fatigue, and malabsorption. It may lead to cirrhosis and liver failure. - Chronic inflammatory disease of the BILIARY TRACT. It is characterized by fibrosis and hardening of the intrahepatic and extrahepatic biliary ductal systems leading to bile duct strictures, CHOLESTASIS, and eventual BILIARY CIRRHOSIS. Dani Welter sclerosing cholangitis (disease) true @@ -199950,7 +199831,7 @@ New Label : Moyamoya disease - + @@ -199964,7 +199845,7 @@ New Label : Moyamoya disease - + EFO:0000784 @@ -201030,7 +200911,7 @@ New Label : Familial sick sinus syndrome - + @@ -201109,7 +200990,7 @@ New Label : Familial sick sinus syndrome - + @@ -201123,7 +201004,7 @@ New Label : Familial sick sinus syndrome - + EFO:0000784 @@ -205754,13 +205635,13 @@ FL.02 1/2 of flowers open stage, PO:0007053 Hemoglobin measurement is a measure of the quantity of the metallo protein hemoglobin in blood often used in the diagnosis of anaemia. - hemoglobin levels Helen Parkinson true NCIt:C64848 Hb haemoglobin measurement hemoglobin count + hemoglobin levels hemoglobin measurement @@ -206822,7 +206703,7 @@ New Label : Bronchopulmonary dysplasia - + @@ -206830,7 +206711,6 @@ New Label : Bronchopulmonary dysplasia A medical condition characterized by long-term fatigue and other symptoms that limit a person's ability to carry out ordinary daily activities. - A syndrome characterized by persistent or recurrent fatigue, diffuse musculoskeletal pain, sleep disturbances, and subjective cognitive impairment of 6 months duration or longer. Symptoms are not caused by ongoing exertion; are not relieved by rest; and result in a substantial reduction of previous levels of occupational, educational, social, or personal activities. Minor alterations of immune, neuroendocrine, and autonomic function may be associated with this syndrome. There is also considerable overlap between this condition and FIBROMYALGIA. (From Semin Neurol 1998;18(2):237-42; Ann Intern Med 1994 Dec 15;121(12): 953-9) Gautier Koscielny Helen Parkinson D015673 @@ -206870,7 +206750,7 @@ New Label : Bronchopulmonary dysplasia - + @@ -206899,7 +206779,7 @@ New Label : Bronchopulmonary dysplasia - + EFO:0000784 @@ -207239,7 +207119,6 @@ New Label : Bronchopulmonary dysplasia - Cryptorchidism (derived from the Greek κρυπτός, kryptos, meaning hidden and ὄρχις, orchis, meaning testicle) is the absence of one or both testes from the scrotum. It is the most common birth defect regarding male genitalia. In unique cases, cryptorchidism can develop later in life, often as late as young adulthood. About 3% of full-term and 30% of premature infant boys are born with at least one undescended testis. However, about 80% of cryptorchid testes descend by the first year of life (the majority within three months), making the true incidence of cryptorchidism around 1% overall. Cryptorchidism is distinct from monorchism the condition of having only one testicle. The failure of one or both testes of a male fetus to descend from the abdomen into the scrotum during the late part of pregnancy. If not surgically corrected in early childhood, males may be at increased risk for testicular cancer later in life. Helen Parkinson cryptorchidism (disease) @@ -209011,7 +208890,6 @@ see https://github.com/ebispot/efo/issues/1381 Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis. In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosis. The presence of meconium ileus is not related to the severity of the cystic fibrosis. - Cystic fibrosis associated meconium ileus is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis. In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosis The presence of meconium ileus is not related to the severity of the cystic fibrosis. Helen Parkinson http://en.wikipedia.org/wiki/Meconium_ileus#Meconium_ileus @@ -210565,7 +210443,6 @@ see https://github.com/ebispot/efo/issues/1381 - A form of RETINAL DEGENERATION in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision. A form of RETINAL degeneration in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision. D057135 true @@ -211437,7 +211314,6 @@ New Label : Catecholaminergic polymorphic ventricular tachycardia - A deficiency of thyroid hormone. Abnormally low levels of thyroid hormone. Helen Parkinson http://purl.obolibrary.org/obo/HP_0000821 @@ -212135,7 +212011,6 @@ New Label : Catecholaminergic polymorphic ventricular tachycardia - Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. Symptoms often include vaginal discomfort, dyspareunia; urinary stress incontinence; and fecal incontinence. D056887 true @@ -212240,7 +212115,6 @@ New Label : Catecholaminergic polymorphic ventricular tachycardia - Elephantiasis is a result of a complex interplay between several factors: the worm, the symbiotic Wolbachia bacteria within the worm, the host’s immune response, and the numerous opportunistic infections and disorders that arise. Enlargement of an area of the body due to obstruction within the lymphatic system and the resulting accumulation of lymph. DOID:4976 MEDGEN:8582 @@ -212555,7 +212429,7 @@ New Label : Thyrotoxic periodic paralysis - + @@ -212597,7 +212471,7 @@ New Label : Thyrotoxic periodic paralysis - + @@ -212619,7 +212493,7 @@ New Label : Thyrotoxic periodic paralysis - + EFO:0000784 @@ -212715,9 +212589,7 @@ New Label : Thyrotoxic periodic paralysis - An autoimmune blistering disorder. It is characterized by the presence of painful blisters and erosions in the skin and mucous membranes. Pemphigus is a group of chronic autoimmune skin diseases characterized by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterized, of which pemphigus vulgaris is the most frequent (75%). - Pemphigus vulgaris is a rare chronic blistering skin disease and the most common form of pemphigus. Helen Parkinson http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Pemphigus_Vulgaris true @@ -214389,7 +214261,6 @@ CCL2 is reported to be associated with Alzheimer's disease e.g. http://www. - An exfoliative disease of skin seen primarily in adults and characterized by flaccid bullae and spreading erythema so that the skin has the appearance of being scalded. It results primarily from a toxic reaction to various drugs, but occasionally occurs as a result of infection, neoplastic conditions, or other exposure. Toxic epidermal necrolysis (TEN) is an acute and severe skin disease with clinical and histological features characterized by the destruction and detachment of the skin epithelium and mucous membranes. Helen Parkinson true @@ -216089,7 +215960,6 @@ ts main use is in colon cancer, in particular, in combination with other chemoth - Is a quantification of neutrophils in blood. The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter. Helen Parkinson true @@ -219342,7 +219212,6 @@ New Label : Ataxia-telangiectasia - A disorder of neuromuscular transmission characterized by weakness of cranial and skeletal muscles. Autoantibodies directed against acetylcholine receptors damage the motor endplate portion of the neuromuscular junction, impairing the transmission of impulses to skeletal muscles. Clinical manifestations may include diplopia, ptosis, and weakness of facial, bulbar, respiratory, and proximal limb muscles. The disease may remain limited to the ocular muscles. THYMOMA is commonly associated with this condition. (Adams et al., Principles of Neurology, 6th ed, p1459) Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles. true DOID:437 @@ -219653,7 +219522,6 @@ New Label : Ataxia-telangiectasia - An acute or chronic inflammatory process affecting the middle ear. Inflammation of the anatomical structures of the middle ear, which is most often caused by an infectious process. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever. James Malone otitis media (disease) @@ -219851,7 +219719,6 @@ New Label : Ataxia-telangiectasia Any disease of a degenerative nature that affects the intervertebral disk. - lumbar disc degeneration is a degeneration of one or more intervertebral disc(s) of the spine. James Malone https://github.com/monarch-initiative/mondo/issues/5633 @@ -223251,7 +223118,6 @@ Elevated serotonin (hyperserotonemia) is one of the most common biological findi - Quantification of some ceruloplasmin in the blood. Quantification of some ceruloplasmin in the blood. Ceruloplasmin is a copper containing enzyme synthesized in tge liver that plays a role in iron metabolism and Copper ion transport. It is measured in combination with copper tests in the diagnosis of Wilson's disease. Ceruloplasmin is a copper containing enzyme that plays a role in iron metabolism measured in combination with copper tests in the diagnosis of Wilson's disease. Dani Welter http://labtestsonline.org.uk/understanding/analytes/caeruloplasmin @@ -225069,7 +224935,7 @@ Small-inducible cytokine A11. - + A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma. @@ -225107,7 +224973,7 @@ Small-inducible cytokine A11. - + @@ -225119,7 +224985,7 @@ Small-inducible cytokine A11. - + NCIT:C5670 @@ -226045,7 +225911,6 @@ Small-inducible cytokine A11. - bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness. A bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness. Helen Parkinson DOID:11100 @@ -226526,7 +226391,6 @@ Small-inducible cytokine A11. An acute viral respiratory infection caused by a strain of influenza virus which is endemic in swine (pigs). Rarely reported in humans prior to 2009, the disease is caused by a mutated strain of swine influenza A (H1N1) virus. It is highly contagious and spreads mainly through coughing and sneezing. Signs and symptoms include fever, chills, coughing, sore throat headache, muscle ache, and generalized weakness. Antiviral medications are most effective in the first two days of the illness. - An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea. http://en.wikipedia.org/wiki/Swine_influenza DOID:0050211 MEDGEN:1385137 @@ -227538,7 +227402,6 @@ Small-inducible cytokine A11. Calcification of the aortic valve - calcification of the aortic valve Dani Welter aortic valve calcification (disease) true @@ -228287,7 +228150,6 @@ Small-inducible cytokine A11. Drastic decline in blood pressure which happens after eating a meal and most likely due to insufficient compensation in cardiac output by the autonomic nervous system for the diversion of blood to the intestines. - drastic decline in blood pressure which happens after eating a meal and most likely due to insufficient compensation in cardiac output by the autonomic nervous sytem for the diversion of blood to the intestines Dani Welter https://github.com/monarch-initiative/mondo/issues/7700 2024-09-01 @@ -230583,7 +230445,6 @@ see https://github.com/ebispot/efo/issues/1381 A malignant form of polymorphic ventricular tachycardia that is characterized by heart rate between 200 and 250 beats per minute, and qrs complexes with changing amplitude and twisting of the points. The term also describes the syndrome of tachycardia with prolonged ventricular repolarization, long qt intervals exceeding 500 milliseconds or bradycardia. Torsades de pointes may be self-limited or may progress to ventricular fibrillation. - A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG. Dani Welter true HP:0001664 @@ -230866,7 +230727,6 @@ see https://github.com/ebispot/efo/issues/1381 An inflammatory skin condition caused by direct contact between the skin and either an irritating substance or an allergen. - a type of skin inflammation (dermatitis) that results from exposure to allergens (allergic contact dermatitis) or irritants (irritant contact dermatitis) Dani Welter true DOID:2773 @@ -234061,7 +233921,7 @@ Sira's response: seperate out HCA and HCS. This is different from ERO where - + @@ -234069,7 +233929,6 @@ Sira's response: seperate out HCA and HCS. This is different from ERO where Hair loss as a result of chemotherapy treatment. - hair loss as a result of chemotherapy treatment Dani Welter true MEDGEN:1720394 @@ -234087,7 +233946,7 @@ Sira's response: seperate out HCA and HCS. This is different from ERO where - + @@ -234100,7 +233959,7 @@ Sira's response: seperate out HCA and HCS. This is different from ERO where - + EFO:0000784 @@ -234592,7 +234451,6 @@ Sira's response: seperate out HCA and HCS. This is different from ERO where A rare developmental dental anomaly in humans characterized by the absence of six or more teeth. - Failure of some or all of an individual's teeth to develop.It occurs most often in the third molar (wisdom tooth). Dani Welter true DOID:0050591 @@ -237503,7 +237361,6 @@ Sira's response: seperate out HCA and HCS. This is different from ERO where Describes the procedure which dissects biological materials into anatomical sub-components, e.g. specific organs or tissues. - describes the procedure for dissection. Drashtti Vasant dissection protocol @@ -237559,7 +237416,6 @@ Sira's response: seperate out HCA and HCS. This is different from ERO where Stroke caused by the blockage of blood flow in one of the large arteries feeding the brain. - stroke caused by the blockage of blood flow in one of the large arteries feeding the brain true MONDO:0005490 PMID:7678184 @@ -237810,7 +237666,6 @@ Sira's response: seperate out HCA and HCS. This is different from ERO where A vascular reaction of the skin characterized by erythema and wheal formation due to localized increase of vascular permeability. The causative mechanism may be allergy, infection, or stress. - Urticaria is a kind of skin rash notable for pale red, raised, itchy bumps that might also cause a burning or stinging sensation. It is often but not necessarily caused by an allergic reaction. Dani Welter urticaria (disease) true @@ -240417,7 +240272,6 @@ Sira's response: seperate out HCA and HCS. This is different from ERO where A Gram-positive bacterial infection caused by Corynebacterium diphtheriae. It usually involves the oral cavity, pharynx, and nasal cavity. Patients develop pseudomembranes in the affected areas and manifest signs and symptoms of an upper respiratory infection. The diphtheria toxin may cause myocarditis, polyneuritis, and other systemic effects. - A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys. true DOID:11405 GARD:1875 @@ -241484,7 +241338,6 @@ Sira's response: seperate out HCA and HCS. This is different from ERO where - A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity. An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice. Sirarat Sarntivijai https://github.com/monarch-initiative/mondo/issues/4521 @@ -242955,7 +242808,6 @@ Sira's response: seperate out HCA and HCS. This is different from ERO where - An eye disease where one or both eyeballs are abnormally small. Congenital or developmental anomaly in which the eyeballs are abnormally small. Catherine Leroy https://github.com/monarch-initiative/mondo/issues/4626 @@ -244361,7 +244213,6 @@ Sira's response: seperate out HCA and HCS. This is different from ERO where A primary or metastatic malignant neoplasm affecting the pituitary gland. Representative examples include functioning or non-functioning carcinomas arising from the anterior lobe of the pituitary gland, chordomas, chondrosarcomas, and metastatic carcinomas from the breast, lung, and gastrointestinal tract. - An endocrine gland cancer located_in the pituitary gland located at the base of the brain. pituitary gland neoplasm pituitary neoplasm DOID:1785 @@ -245714,9 +245565,6 @@ Sira's response: seperate out HCA and HCS. This is different from ERO where A common benign skin neoplasm usually affecting older individuals. The lesions usually are multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly elevated skin lesions. - seborrheic keratosis is a noncancerous benign skin growth that originates in keratinocytes. Like liver spots, seborrheic keratoses are seen more often as people age. In fact, they are sometimes humorously referred to as the "barnacles of old age". - -The lesions appear in various colors, from light tan to black. They are round or oval, feel flat or slightly elevated (like the scab from a healing wound), and range in size from very small to more than 2.5 centimetres (1 in) across. They can resemble warts,[4] though they have no viral origins. They can also resemble melanoma skin cancer, though they are unrelated to melanoma. Because only the top layers of the epidermis are involved, seborrheic keratoses are often described as having a "pasted on" appearance. Sirarat Sarntivijai https://github.com/monarch-initiative/mondo/issues/4521 true @@ -246936,7 +246784,6 @@ The lesions appear in various colors, from light tan to black. They are round or - A primary bacterial infectious disease that results_in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli. A serious infectious disorder that follows wound contamination by the Gram-positive bacterium Clostridium tetani. The bacteria produce a neurotoxin called tetanospasmin, which causes muscle spasm in the jaw and other anatomic sites. DOID:11338 GARD:5144 @@ -248034,7 +247881,6 @@ The lesions appear in various colors, from light tan to black. They are round or - Crohn's colitis is a type of Crohn's disease that affects the large intestine. Crohn's disease affecting the colon. DOID:0060192 ICD9:555.1 @@ -248279,7 +248125,7 @@ The lesions appear in various colors, from light tan to black. They are round or - + Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon. Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon. true @@ -248301,14 +248147,14 @@ The lesions appear in various colors, from light tan to black. They are round or - + - + EFO:0000784 @@ -248541,7 +248387,7 @@ The lesions appear in various colors, from light tan to black. They are round or - + @@ -248555,7 +248401,6 @@ The lesions appear in various colors, from light tan to black. They are round or An Crohn disease involving a pathogenic inflammatory response in the anal canal. - Perianal Crohn's disease is a type of Crohn's disease affecting the anus. true MEDGEN:574362 MONDO:0005537 @@ -248572,7 +248417,7 @@ The lesions appear in various colors, from light tan to black. They are round or - + @@ -248587,7 +248432,7 @@ The lesions appear in various colors, from light tan to black. They are round or - + EFO:0000784 @@ -248826,7 +248671,6 @@ The lesions appear in various colors, from light tan to black. They are round or An Crohn disease involving a pathogenic inflammatory response in the small intestine. - Small bowel Crohn's disease is a chronic inflammatory bowel disease affecting the small instestine. MEDGEN:57617 MONDO:0005539 NANDO:1200445 @@ -250536,14 +250380,13 @@ A detailed classification of surgical dressings is prepared and maintained by th - + - A disorder characterized by signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction. Signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction. true MEDGEN:215295 @@ -250572,7 +250415,7 @@ A detailed classification of surgical dressings is prepared and maintained by th - + @@ -250591,7 +250434,7 @@ A detailed classification of surgical dressings is prepared and maintained by th - + EFO:0000784 @@ -251064,7 +250907,6 @@ A detailed classification of surgical dressings is prepared and maintained by th Age-related neuropathological condition with severe neuronal cell loss and gliosis in the hippocampus - age-related neuropathological condition with severe neuronal cell loss and gliosis in the hippocampus Dani Welter true MEDGEN:1801569 @@ -255414,7 +255256,6 @@ http://humupd.oxfordjournals.org/content/13/2/103.full A disorder that is caused by pathologic changes in the ocular vasculature. - a disease that occurs in the vasculature of the eye Sirarat Sarntivijai MEDGEN:182689 MONDO:0005552 @@ -256645,7 +256486,7 @@ http://humupd.oxfordjournals.org/content/13/2/103.full - + @@ -256694,7 +256535,7 @@ http://humupd.oxfordjournals.org/content/13/2/103.full - + @@ -256707,7 +256548,7 @@ http://humupd.oxfordjournals.org/content/13/2/103.full - + EFO:0005769-modified @@ -257222,7 +257063,6 @@ http://humupd.oxfordjournals.org/content/13/2/103.full An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision. - Retinal detachment is a disorder of the eye in which the retina peels away from its underlying layer of support tissue. Initial detachment may be localized or broad, but without rapid treatment the entire retina may detach, leading to vision loss and blindness. Helen Parkinson http://en.wikipedia.org/wiki/Retinal_detachment true @@ -258781,7 +258621,7 @@ http://humupd.oxfordjournals.org/content/13/2/103.full - + @@ -258819,7 +258659,7 @@ http://humupd.oxfordjournals.org/content/13/2/103.full - + @@ -258833,7 +258673,7 @@ http://humupd.oxfordjournals.org/content/13/2/103.full - + EFO:0000784 @@ -261616,7 +261456,6 @@ http://purl.obolibrary.org/obo/MONDO_0005575 - A condition characterized by the presence of cryoglobulins in the blood. Cryoglobulins are abnormal proteins that precipitate within the microvasculature on exposure to cold; microvasculature effects of cryoglobulinemia may result in restricted tissue blood flow, tissue hypoxia, and tissue necrosis. --2004 Cryoglobulinemia is a type of vasculitis that is caused by abnormal proteins (antibodies) in the blood called 'cryoglobulins.' At cold temperatures, these proteins become solid or gel-like, which can block blood vessels and cause a variety of health problems. Many people affected by this condition will not experience any unusual signs or symptoms. When present, symptoms vary but may include breathing problems; fatigue; glomerulonephritis ; joint or muscle pain; purpura ; Raynaud's phenomenon ; skin death; and/or skin ulcers. In some cases, the exact underlying cause is unknown; however, cryoglobulinemia can be associated with a variety of conditions including certain types of infection; chronic inflammatory diseases (such as autoimmune disease); and/or cancers of the blood or immune system. Treatment varies based on the severity of the condition, the symptoms present in each person and the underlying cause. Dani Welter true @@ -268133,7 +267972,6 @@ Use: http://purl.obolibrary.org/obo/CHEBI_22676 A group of skin disorders including Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN), drug reaction with eosinophilia and systemic symptoms (DRESS), acute generalized exanthematous pustulosis (AGEP), and generalized bullous fixed drug eruptions (GBFDE). - Group of severe, sometimes life-threatening skin reactions that are often drug-induced. Severe cutaneous adverse reactions (SCARs) include: Erythema multiforme, Stevens-Johnson syndrome, toxic epidermal necrolysis, drug reaction with eosinophilia and systemic symptoms, and acute generalized exanthematous pustulosis. Dani Welter https://github.com/monarch-initiative/mondo/issues/7258 true @@ -270224,7 +270062,6 @@ Use: http://purl.obolibrary.org/obo/CHEBI_22676 A neuroblastoma associated with increased dopamine excretion. - a neuroblastoma associated with increased dopamine excretion. Sirarat Sarntivijai https://github.com/monarch-initiative/mondo/issues/7700 2024-09-01 @@ -275894,7 +275731,7 @@ Use: http://purl.obolibrary.org/obo/CHEBI_22676 - + @@ -275937,7 +275774,7 @@ Use: http://purl.obolibrary.org/obo/CHEBI_22676 - + @@ -275958,7 +275795,7 @@ Use: http://purl.obolibrary.org/obo/CHEBI_22676 - + EFO:0006510-isa @@ -291052,7 +290889,6 @@ her lifetime A bacterial infectious disorder contracted by consumption of food or drink contaminated with Salmonella typhi. This disorder is common in developing countries and can be treated with antibiotics. - A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia. true MONDO:0020486 DOID:13258 @@ -300813,7 +300649,6 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= - A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph. A vaso-occlusive crisis of the pulmonary vasculature occurring in patients with sickle cell disease. It is characterized by the presence of a new radiodensity on a chest radiograph accompanied by fever, cough, sputum production, dyspnea, or hypoxia. Sirarat Sarntivijai DOID:1584 @@ -300946,7 +300781,6 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= Acute disseminated encephalomyelitis (ADEM) is a demyelinating disorder of the central nervous system. - An encephalomyelitis characterized by inflammation located_in brain and located_in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection. Sirarat Sarntivijai https://github.com/monarch-initiative/mondo/issues/6752 https://github.com/monarch-initiative/mondo/issues/7917 @@ -301173,7 +301007,6 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= - A viral infectious disease that results_in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 or has_material_basis_in Human enterovirus 70, which are transmitted_by contaminated fomites or transmitted_by contact with contaminated hands. The infection has_symptom vascular dilation, has_symptom eyelid edema, has_symptom photophobia, has_symptom redness of the eyes, has_symptom watering of the eye, has_symptom conjunctival congestion, and has_symptom superficial punctate epithelial keratitis. Acute conjunctivitis that is characterized by bleeding into the conjunctiva. Sirarat Sarntivijai DOID:11227 @@ -303639,7 +303472,6 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= A parasitic infectious disorder caused by amoebas. The parasite may cause colitis which is manifested with bloody diarrhea, abdominal pain, nausea and fever. In rare cases it may spread to the liver, brain and lungs. - A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs. Sirarat Sarntivijai true DOID:9181 @@ -304231,7 +304063,6 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= A sexually transmitted papillary growth caused by the human papillomavirus. It usually arises in the skin and mucous membranes of the perianal region and external genitalia. - A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, and throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts. Sirarat Sarntivijai DOID:11168 ICD9:078.11 @@ -304833,7 +304664,6 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= - A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Arenaviridae viruses. Virus diseases caused by the arenaviridae. Sirarat Sarntivijai DOID:3944 @@ -306121,14 +305951,13 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= - + - A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies. An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin. Sirarat Sarntivijai true @@ -306183,7 +306012,7 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= - + @@ -306209,7 +306038,7 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= - + EFO:0000784 @@ -306746,7 +306575,6 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= - A parasitic protozoa infectious disease involving infection caused by Balantidium coli. The trophozoites are capable of attacking the intestinal epithelium, creating ulcers and causing bloody diarrhea. The infectiou has_symptom cramping, has_symptom abdominal pain, has_symptom nausea and has_symptom foul breath. Infection by parasites of the genus balantidium. The presence of Balantidium in the large intestine leads to diarrhea; dysentery; and occasionally ulcer. Sirarat Sarntivijai DOID:12386 @@ -307216,7 +307044,6 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= A neurologic syndrome following injury of the spinal sympathetic nerves of the neck. The injury usually results from arthritis or pinching by the adjacent vertebrae. Symptoms include facial pain, chronic allergies, dizziness, neck pain, ear pain and vertigo. - A syndrome that involves occipital head aches, nystagmus on head movement, tinnitus, spasms, blurred vision, corneal hyperaesthesia, and corneal ulcers. Sirarat Sarntivijai DOID:6692 ICD10CM:M53.0 @@ -308501,7 +308328,6 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= A complication of malaria resulting from hemolysis. - A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax. Sirarat Sarntivijai DOID:14068 ICD9:084.8 @@ -308752,7 +308578,6 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= - A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening. Blastomycosis is a rare infection that may develop when people inhale a fungus called Blastomyces dermatitidis, a fungus that is found in moist soil, particularly where there is rotting vegetation. The fungus enters the body through the lungs, infecting them. The fungus then spreads to other areas of the body.The infection may affect the skin, bones and joints, and other areas. The disease usually affects people with weakened immune systems, such as those with HIV or who have had an organ transplant. Sirarat Sarntivijai CSP:1988-4119 @@ -308985,7 +308810,6 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= A disorder affecting the small intestine. It is caused by the stasis of food and subsequent overgrowth of bacteria in a portion of the small intestine that is unintentionally bypassed as a complication of abdominal surgery or as a sequela of gastrointestinal disorders which impede effective motility. Clinical signs include bloating, abdominal pain, diarrhea and weight loss. If untreated, the clinical course progresses to malabsorption of fats, vitamin B12 and calcium, the latter which predisposes to nephrolithiasis and osteoporosis. - An intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption. Sirarat Sarntivijai DOID:10606 ICD9:579.2 @@ -309439,7 +309263,6 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= - A viral infectious disease that results_in infection in sheep and goats, has_material_basis_in Border disease virus, which is transmitted_by congenital method. The infection has_symptom abortion, has_symptom stillbirth, has_symptom hairy fleece in lambs, and has_symptom abnormal body conformation. Congenital disorder of lambs caused by a virus closely related to or identical with certain strains of bovine viral diarrhea virus. Sirarat Sarntivijai @@ -309634,7 +309457,7 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= - + A multifactorial disease of cattle resulting from complex interactions between environmental factors, host factors, and pathogens. The environmental factors act as stressors adversely affecting the immune system and other host defenses and enhancing transmission of infecting agents. A pneumonia which has a multifactorial etiology and develops as a result of complex interactions between environmental factors, host factors, and pathogens leading to pulmonary lesions caused by various micro organisms ( essentially viruses and bacteria). Environmental factors (eg, weaning, transport, commingling, crowding, and inadequate ventilation) serve as stressors that adversely affect the immune and nonimmune defense mechanisms of the host. In addition, certain environmental factors (eg, crowding and inadequate ventilation) can enhance the transmission of infectious agents among animals. Sirarat Sarntivijai @@ -309650,7 +309473,7 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= - + @@ -309663,7 +309486,7 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= - + https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-5002-8648 @@ -309700,8 +309523,7 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= - - A viral infectious disease that results_in infection in cattle, located_in intestine, has_material_basis_in Bovine viral diarrhea virus 1, which is transmitted_by ingestion of infected food, or transmitted_by nasal secretions. The infection has_symptom lesions in the mucosa of digestive tract, has_symptom necrosis of lymphoid tissue, has_symptom hoof inflammation and dermatitis, and has_symptom diarrhea. + Acute disease of cattle caused by the bovine viral diarrhea viruses (diarrhea viruses, bovine viral). Often mouth ulcerations are the only sign but fever, diarrhea, drop in milk yield, and loss of appetite are also seen. Severity of clinical disease varies and is strain dependent. Outbreaks are characterized by low morbidity and high mortality. Sirarat Sarntivijai https://github.com/monarch-initiative/mondo/issues/5294 @@ -309719,7 +309541,7 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= - + @@ -309738,7 +309560,7 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= - + https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-5002-8648 https://www.merckvetmanual.com/ @@ -309987,7 +309809,6 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= A lung disorder that is mainly associated with chronic allograft dysfunction after lung transplantation and that is characterized by inflammation and fibrosis of bronchiolar walls that reduce the diameter of the bronchioles and result in progressive and irreversible airflow obstruction. - A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults. Sirarat Sarntivijai https://github.com/monarch-initiative/mondo/issues/5260 @@ -310266,7 +310087,6 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= - A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses. Acute inflammation of the walls of the terminal bronchioles that spreads into the peribronchial alveoli and alveolar ducts. It results in the creation of foci of consolidation, which are surrounded by normal parenchyma. It affects one or more lobes, and is frequently bilateral and basal. It is usually caused by bacteria (e.g., Staphylococcus, Streptococcus, Haemophilus influenzae). Signs and symptoms include fever, cough with production of brown-red sputum, dyspnea, and chest pain. Sirarat Sarntivijai true @@ -310418,7 +310238,6 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= - A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue. Brucellosis is a bacterial infection that spreads from animals to people via unpasteurized dairy products or by exposure to contaminated animal products or infected animals. Animals that are most commonly infected include sheep, cattle, goats, pigs, and dogs. Brucellosis can cause of range of signs and symptoms, some of which may persist or recur. Initial symptoms may include fever, sweats, malaise, anorexia, headache, fatigue, and/or pain in the muscles, joints, and/or back. Symptoms that may persist or recur include fevers, arthritis, swelling of the testicle and scrotum, swelling of the heart (endocarditis), neurologic symptoms (in up to 5% of cases), chronic fatigue, depression, and/or swelling of the liver or spleen. People who are in jobs or settings that increase exposure to the bacteria are at increased risk for infection. Antibiotics are used to treat brucellosis. Recovery may take a few weeks to several months, and relapses are common. Death from brucellosis is rare, occurring in no more than 2% of cases. Sirarat Sarntivijai DOID:11077 @@ -311157,7 +310976,6 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= - A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Caliciviridae viruses. Virus diseases caused by caliciviridae. They include hepatitis E; vesicular exanthema of swine; acute respiratory infections in felines, rabbit hemorrhagic disease, and some cases of gastroenteritis in humans. Sirarat Sarntivijai DOID:4091 @@ -311271,7 +311089,6 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= - A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Campylobacter jejuni, which is transmitted_by ingestion of contaminated food or water or transmitted_by contact with infected people or animals. The infection has_symptom diarrhea or has_symptom dysentery, has_symptom abdominal cramps and pain, and has_symptom fever. Infections with bacteria of the genus campylobacter. Sirarat Sarntivijai DOID:13622 @@ -313065,7 +312882,6 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= - A toxoplasmosis that occurs in patients with AIDS or weakened immune system, who develop the infection due to reactivation, present with ring-enhancing intracranial mass lesions or encephalitis. The symptoms include headache, altered mental status, seizures, coma, fever, motor or sensory loss, cranial nerve palsies, visual abnormalities, and focal seizures. Infections of the brain caused by the protozoan toxoplasma gondii that primarily arise in individuals with immunologic deficiency syndromes (see also aids-related opportunistic infections). The infection may involve the brain diffusely or form discrete abscesses. Clinical manifestations include seizures, altered mentation, headache, focal neurologic deficits, and intracranial hypertension. (From Joynt, Clinical Neurology, 1998, Ch27, pp41-3) Sirarat Sarntivijai @@ -313453,7 +313269,6 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= - A cervix disease that is characterized by the beginning of dilation and effacement of a pregnant woman's cervix before her pregnancy has reached term. A clinical diagnosis presenting with painless cervical dilatation and spontaneous mid-trimester birth in recurrent pregnancies in the absence of spontaneous membrane rupture, bleeding or clinical chorioamnionitis. Sirarat Sarntivijai DOID:9681 @@ -313569,7 +313384,6 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= A form of actinomycosis characterized by slow-growing inflammatory lesions of the lymph nodes that drain the mouth (lumpy jaw), reddening of the overlying skin, and intraperitoneal abscesses. - An actinomycosis that involves invasion and infiltration located_in head and located_in neck, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of abscesses following oral surgery or in patients with poor dental hygiene. Sirarat Sarntivijai DOID:12633 ICD10CM:A42.2 @@ -313869,7 +313683,6 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= - A commensal Chlamydiaceae infectious disease that is caused by a member of the genus Chlamydia, specifically C. trachomatis. An infection that is caused by Chlamydia trachomatis. Sirarat Sarntivijai DOID:11263 @@ -315623,7 +315436,6 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= A parasitic infection caused by Coccidia. It affects livestock, birds and humans. In humans the parasite infests the intestinal tract and may cause watery diarrhea, abdominal pain, fever, nausea and vomiting. - A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection. Sirarat Sarntivijai DOID:2113 ICD9:007.2 @@ -316839,7 +316651,6 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= - A rubella that results_in infection has_material_basis_in Rubella virus, which is transmitted_by congenital method to the developing fetus of a pregnant woman who has contracted rubella during her first trimester. An infectious embryofetopathy that may present in an infant as a result of maternal infection and subsequent fetal infection with rubella virus. CRS can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects. Sirarat Sarntivijai https://github.com/monarch-initiative/mondo/issues/4069 @@ -317097,7 +316908,6 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= A life-threatening bacterial infection of the newborn caused by Treponema pallidum. It is transmitted to the infant from a mother with syphilis through the placenta during pregnancy. Signs and symptoms include irritability, fever, failure to thrive, saddle nose, cutaneous rash, and pneumonia. - A syphilis that results_in a multisystem infection in the fetus via the placenta. Sirarat Sarntivijai https://github.com/monarch-initiative/mondo/issues/4069 DOID:9856 @@ -317808,7 +317618,6 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= - A Nidovirales infectious disease that results_in infection in animals and humans, has_material_basis_in Coronaviridae viruses, which is transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food. Virus diseases caused by coronaviridae. Sirarat Sarntivijai DOID:2948 @@ -318046,7 +317855,6 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= A heterogeneous group of infections produced by coxsackieviruses, including herpangina, aseptic meningitis (meningitis, aseptic), a common-cold-like syndrome, a non-paralytic poliomyelitis-like syndrome, epidemic pleurodynia (pleurodynia, epidemic) and a serious myocarditis. - An Enterovirus infectious disease that results_in infection, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom paralysis, has_symptom myositis, and has_symptom degeneration of neuronal tissue. Sirarat Sarntivijai https://github.com/monarch-initiative/mondo/issues/3205 DOID:10545 @@ -318136,7 +317944,6 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= - A respiratory system infectious disease that involves inflammation, edema, and subsequent obstruction of the larynx, trachea, and bronchi. The disease is caused by viruses, bacteria, allergies and inhaled irritants. It is marked by episodes of difficult breathing and hoarse metallic cough in infants and young children. Croup is caused by parainfluenza virus (types 1 and 2), Influenza A and B viruses, Measles virus, adenovirus, respiratory syncytial virus, Staphylococcus and Streptococcus. Acute upper respiratory airways infection that results in the swelling of the larynx. It is usually caused by parainfluenza viruses. Signs include a characteristic barking cough and stridor. Sirarat Sarntivijai DOID:9395 @@ -319142,7 +318949,6 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= - A coccidiosis that involves infection of the epithelial cells of the small intestine with Cystoisospora belli, which results in nonbloody diarrhea with crampy abdominal pain, malabsorption and weight loss. An intestinal infection with Isospora belli. Sirarat Sarntivijai DOID:2112 @@ -320252,7 +320058,6 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= - A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia. Bothriocephalosis is a mammalian cosmopolitan intestinal parasitosis. In addition to non-specific digestive problems (nausea, abdominal pain, lack of appetite), bothriocephalosis provokes an anemia caused by vitamin B12 deficiency that resembles Biermer anemia (anemia characterized by abnormally large red blood cells). Sirarat Sarntivijai DOID:10075 @@ -320458,7 +320263,6 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= - A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions. Infection with nematodes of the genus dirofilaria, usually in animals, especially dogs, but occasionally in humans. Sirarat Sarntivijai DOID:1082 @@ -321183,7 +320987,6 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= A viral hemorrhagic fever that is caused by the Ebola virus, which is transmitted by contact with infected animals or humans; it is characterized by high fever, unexplained bleeding, and a high mortality rate. - A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Zaire ebolavirus, has_material_basis_in Sudan ebolavirus, has_material_basis_in Cote d'Ivoire ebolavirus, or has_material_basis_in Bundibugyo ebolavirus, which are transmitted_by contact with the body fluids of an infected animal or person, transmitted_by contaminated fomites, or transmitted_by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding. Sirarat Sarntivijai DOID:4325 GARD:2035 @@ -321919,7 +321722,6 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= - A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain. Infection by flukes of the genus Echinostoma. Sirarat Sarntivijai DOID:1218 @@ -323634,7 +323436,6 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= - A viral infectious disease that results_in necrosis located_in intercostal muscle, has_material_basis_in Human enterovirus B. The infection has_symptom severe chest pain, has_symptom fever, has_symptom malaise, has_symptom pleuritis, and has_symptom headache. An acute, febrile, infectious disease generally occurring in epidemics. It is usually caused by coxsackieviruses B and sometimes by coxsackieviruses A; echoviruses; or other enteroviruses. Sirarat Sarntivijai DOID:10882 @@ -325232,7 +325033,6 @@ Label : Hemophilia A - A bone cancer that is located_in the femur. A cancer involving a femur. Sirarat Sarntivijai femoral neoplasm @@ -325495,7 +325295,6 @@ Label : Hemophilia A - A filariasis that is characterized by the thickening of the skin and underlying tissues, especially in the legs, male genitals and female breasts, caused by thread-like parasitic worms Wuchereria bancrofti, Brugia malayi or Brugia timori, which inhabit the lymphatics. These nematodes are transmitted by mosquitoes. Acute symptoms include fever, lymphadenitis, lymphangitis, funiculitis, and epididymitis. Chronic symptoms include abscesses, hyperkeratosis, polyarthritis, hydroceles, lymphedema, and elephantiasis. Parasitic infestation of the human lymphatic system by wuchereria bancrofti or brugia malayi. It is also called lymphatic filariasis. Sirarat Sarntivijai Elephantiasis @@ -326404,7 +326203,6 @@ Label : Hemophilia A A viral infectious disease that results in infection in cattle and swine, has material basis in foot-and-mouth disease virus, which is transmitted by contaminated fomites, or transmitted by ingestion of food contaminated with infected meat or animal products. The infection results in formation of vesicles in the mouth, or on the feet and has symptom lameness. - A viral infectious disease that results_in infection in cattle and swine, has_material_basis_in Foot-and-mouth disease virus, which is transmitted_by contaminated fomites, or transmitted_by ingestion of food contaminated with infected meat or animal products. The infection results_in_formation_of vesicles in the mouth, or on the feet and has_symptom lameness. Sirarat Sarntivijai @@ -326486,7 +326284,6 @@ Label : Hemophilia A - A lung disease that is a mycosis caused by fungal growth in the lungs. Pulmonary diseases caused by fungal infections, usually through hematogenous spread. Sirarat Sarntivijai DOID:11341 @@ -326663,7 +326460,6 @@ Label : Hemophilia A - A commensal bacterial infectious disease that results_in infection, located_in muscle tissue, has_material_basis_in Clostridium perfringens, which produce gas that becomes trapped in the infected tissue. Gas gangrene usually develops after injuries or surgery. The infection has_symptom large blisters, has_symptom pain in the infected area, has_symptom myonecrosis, has_symptom gas production, and has_symptom sepsis. A severe condition resulting from bacteria invading healthy muscle from adjacent traumatized muscle or soft tissue. The infection originates in a wound contaminated with bacteria of the genus clostridium. C. perfringens accounts for the majority of cases (over eighty percent), while C. noyvi, C. septicum, and C. histolyticum cause most of the other cases. Sirarat Sarntivijai DOID:9159 @@ -327298,7 +327094,6 @@ Label : Hemophilia A - A herpes simplex that results_in infection located_in genital system, or located_in rectum, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which is transmitted_by sexual contact. The infection has_symptom sores, has_symptom fever, and has_symptom swollen glands. Herpes simplex infection of the genitals, most commonly caused by the herpes simplex-2 virus. Sirarat Sarntivijai https://github.com/monarch-initiative/mondo/issues/3348 @@ -327506,7 +327301,6 @@ Label : Hemophilia A A benign condition characterized by the development of irregular patches in the surface of the tongue resulting in a map-like appearance. The patches migrate from day to day and usually resolve without treatment. - An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface. Sirarat Sarntivijai DOID:1455 ICD10CM:K14.1 @@ -328176,7 +327970,6 @@ Label : Hemophilia A - A carbohydrate metabolic disorder that is characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH). An X-linked genetic condition caused by alterations in the gene G6PD that result in moderately to severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Most individuals with G6PD deficiency are asymptomatic throughout their life. Individuals with G6PD variants that cause G6PD deficiency are at risk for severe neonatal jaundice. These individuals are also at risk for acute hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans. Sirarat Sarntivijai https://github.com/monarch-initiative/mondo/issues/6252 @@ -328871,7 +328664,6 @@ Label : Hemophilia A A condition resulting from infection by Klebsiella granulomati, which is characterized by ulcerative lesions of the genitalia. - A primary bacterial infectious disease that results_in infection located_in skin or located_in mucosa of genital tract, has_material_basis_in Klebsiella granulomatis, transmitted by sexual contact or transmitted_by contact with the open sores. The infection has_symptom painless genital ulcers. Sirarat Sarntivijai DOID:9113 ICD10:A58 @@ -329335,7 +329127,6 @@ Label : Hemophilia A - A trichostrongyloidiasis that involves parasitic infection of the ruminant abomasum by nematodes of the genus Haemonchus resulting in anemia, dehydration, diarrhea and accumulation of fluid in the abdomen, gut wall, thoracic cavity and submandibular tissue. Infection with nematodes of the genus haemonchus, characterized by digestive abnormalities and anemia similar to that from hookworm infestation. Sirarat Sarntivijai DOID:3332 @@ -330370,7 +330161,6 @@ Label : Hemophilia A - A Paramyxoviridae infectious disease that results_in infection in domestic animals and humans, has_material_basis_in Henipavirus, which is transmitted_by direct contact with the urine, feces, and nasal secretions of an infected animal. Infections with viruses of the genus henipavirus, family paramyxoviridae. Sirarat Sarntivijai DOID:4393 @@ -331255,7 +331045,6 @@ Label : Hemophilia A - A Simplexvirus infectious disease that results_in inflammation located_in mucosa of mouth, has_material_basis_in Human herpesvirus 1, and has_symptom cold sores, has_symptom bad breath, and has_symptom fever. Stomatitis caused by Herpesvirus hominis. It usually occurs as acute herpetic stomatitis (or gingivostomatitis), an oral manifestation of primary herpes simplex seen primarily in children and adolescents. Sirarat Sarntivijai DOID:9059 @@ -331423,7 +331212,6 @@ Label : Hemophilia A - A Simplexvirus infectious disease that results_in inflammation located_in cornea of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom photophobia, has_symptom blurred vision, has_symptom tearing, has_symptom pain, and has_symptom redness. A superficial, epithelial Herpesvirus hominis infection of the cornea, characterized by the presence of small vesicles which may break down and coalesce to form dendritic ulcers (keratitis, dendritic). (Dictionary of Visual Science, 3d ed) Sirarat Sarntivijai DOID:0080158 @@ -332167,7 +331955,6 @@ Label : Hemophilia A - A renal infectious disease and is_a Human immunodeficiency virus infectious disease that results_in infection located_in kidney, has_material_basis_in has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom nephrotic-range proteinuria (>3.5 g/d), has_symptom azotemia, has_symptom hypoalbuminemia, and has_symptom hyperlipidemia. Renal disease in human immunodeficiency virus (HIV)-infected patients. It is characterized by nephrotic syndrome, azotemia, normal to large kidneys on ultrasound images, and focal segmental glomerulosclerosis on renal biopsy findings. Sirarat Sarntivijai @@ -334225,7 +334012,6 @@ Label : Hemophilia A - A commensal bacterial infectious disease that results_in inflammation, located_in conjunctiva of the eye, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact. The infection has_symptom swollen conjunctiva and eyelids and has_symptom discharge of pus and mucus. Inflammation of the conjunctiva in a newborn due to Chlamydia trachomatis which was acquired during labor and delivery. Sirarat Sarntivijai DOID:13800 @@ -334406,7 +334192,7 @@ Label : Hemophilia A - + @@ -334424,7 +334210,6 @@ Label : Hemophilia A A viral infection of mice, causing edema and necrosis followed by limb loss. - A viral infectious disease that results_in infection located in skin of mice, has_material_basis_in Ectromelia virus. The infection has_symptom swelling of the feet, has_symptom gangrene, and has_symptom lesions on the skin. Sirarat Sarntivijai DOID:3296 MESH:D004482 @@ -334437,7 +334222,7 @@ Label : Hemophilia A infectious ectromelia - + @@ -334450,7 +334235,7 @@ Label : Hemophilia A - + https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-5002-8648 @@ -334670,9 +334455,8 @@ Label : Hemophilia A - + A viral infectious disease that results in infection located in eyes or located in upper respiratory tract of domestic rabbits, has material basis in Myxoma virus, which is transmitted by mosquitos, transmitted by biting flies or transmitted by direct contact. The infection has symptom conjunctivitis with a milky discharge from the inflamed eye and has symptom breathing difficulties. - A viral infectious disease that results_in infection located_in eyes or located_in upper respiratory tract of domestic rabbits, has_material_basis_in Myxoma virus, which is transmitted_by mosquitos, transmitted_by biting flies or transmitted_by direct contact. The infection has_symptom conjunctivitis with a milky discharge from the inflamed eye and has_symptom breathing difficulties. Sirarat Sarntivijai DOID:3297 MESH:D009234 @@ -334684,7 +334468,7 @@ Label : Hemophilia A infectious myxomatosis - + @@ -334697,7 +334481,7 @@ Label : Hemophilia A - + https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-5002-8648 https://www.merckvetmanual.com/ @@ -335846,7 +335630,6 @@ Label : Hemophilia A A disease due to a virus transmitted by an arthropod). - A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus, which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis. Sirarat Sarntivijai DOID:10844 GARD:6797 @@ -336495,7 +336278,7 @@ Label : Klippel-Trénaunay syndrome - + @@ -336548,7 +336331,7 @@ Label : Klippel-Trénaunay syndrome - + @@ -336563,7 +336346,7 @@ Label : Klippel-Trénaunay syndrome - + EFO:0000784 @@ -336841,7 +336624,6 @@ Label : Klippel-Trénaunay syndrome - A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia. Extrapulmonary tuberculosis involving the larynx. Signs and symptoms include hoarseness, cough, and odynophagia. The condition is rare. Sirarat Sarntivijai https://github.com/monarch-initiative/mondo/issues/4143 @@ -337026,7 +336808,6 @@ Label : Klippel-Trénaunay syndrome A viral hemorrhagic fever that is caused by the Lassa virus, which is transmitted by contact with infected rodents; it is characterized by fever, headache, malaise, myalgia, and hearing loss. - A viral infectious disease that results_in infection, has_material_basis_in Lassa virus, which is transmitted_by multimammate rat of the genus Mastomys. The infection has_symptom fever, has_symptom retrosternal pain, has_symptom sore throat, has_symptom back pain, has_symptom cough, has_symptom abdominal pain, has_symptom vomiting, has_symptom diarrhea, has_symptom conjunctivitis, has_symptom facial swelling, has_symptom proteinuria (protein in the urine), and has_symptom mucosal bleeding. Sirarat Sarntivijai DOID:9537 GARD:19688 @@ -337701,7 +337482,6 @@ Label : Leg-Calvé-Perthes disease - A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough. A pneumonia caused by Legionella pneumophila and other Legionella species, which is characterized by fever, cough, progressive respiratory distress, and which is often accompanied by extrapulmonary manifestations. Sirarat Sarntivijai DOID:10457 @@ -338817,7 +338597,6 @@ Label : Leg-Calvé-Perthes disease A poxvirus infection of cattle characterized by the appearance of nodules on all parts of the skin. - A viral infectious disease that results_in infection located_in skin and located_in mucous membrane of cattle, has_material_basis_in Lumpy skin disease virus, which results_in_formation_of nodules on the skin particularly on the head, neck, udder, genitalia, perineum and legs, has_symptom fever, and has_symptom lymphadenopathy. Sirarat Sarntivijai DOID:3293 MEDGEN:9815 @@ -338907,7 +338686,6 @@ Label : Leg-Calvé-Perthes disease - An extrapulmonary tuberculosis that is located_in lymph node, and has_symptom lymphadenopathy, has_symptom fever, has_symptom weight loss, has_symptom fatigue, has_symptom night sweats and has_symptom cough. Tuberculosis of the lymph node. Sirarat Sarntivijai DOID:4889 @@ -339277,7 +339055,6 @@ Label : Leg-Calvé-Perthes disease A disease involving the lymphatic part of lymphoid system. - a disease in lymphatic system Sirarat Sarntivijai true DOID:75 @@ -340384,7 +340161,6 @@ Label : Leg-Calvé-Perthes disease - A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies. A parasitic infection caused by the nematode Mansonella. Signs and symptoms include pruritus, headache, fever, arthralgias, and eosinophilia. Sirarat Sarntivijai DOID:1081 @@ -342094,7 +341870,6 @@ Label : Leg-Calvé-Perthes disease - A kidney cancer that is found in the kidney and is usually found before birth by ultrasound or within the first 3 months of life. A solid, unencapsulated tumor of the kidney composed of spindle mesenchymal cells that resemble fibroblasts or muscle cells. The homogeneous mass typically extends into the renal parenchyma and replaces most of the kidney. In most cases, mesoblastic nephroma is benign and occurs in the fetus or newborn, and rarely in the older child or the adult. Sirarat Sarntivijai DOID:4772 @@ -342216,7 +341991,6 @@ Label : Leg-Calvé-Perthes disease A fungal infection caused by Microsporidia. It occurs in immunocompromised patients, causing diarrhea and wasting. - An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in Microsporidia phylum members. Sirarat Sarntivijai DOID:4271 GARD:3655 @@ -342904,7 +342678,6 @@ Label : Leg-Calvé-Perthes disease - A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia. An autoimmune process characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia. Sirarat Sarntivijai DOID:12889 @@ -345440,7 +345213,6 @@ Label : Leg-Calvé-Perthes disease - A mycoplasmal pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat. Interstitial pneumonia caused by extensive infection of the lungs (lung) and bronchi, particularly the lower lobes of the lungs, by mycoplasma pneumoniae in humans. In sheep, it is caused by mycoplasma ovipneumoniae. In cattle, it may be caused by mycoplasma dispar. Sirarat Sarntivijai DOID:13276 @@ -346702,7 +346474,6 @@ Label : Leg-Calvé-Perthes disease - A schistosomiasis that involves parasitic infection of the brain and spinal cord by Schistosoma haematobium, Schistosoma mansoni or Schistosoma japonicum causing acute or subacute myelopathy, focal central nervous system impairment, seizures and increased intracranial pressure. Schistosomiasis of the brain, spinal cord, or meninges caused by infections with trematodes of the genus schistosoma (primarily schistosoma japonicum; schistosoma mansoni; and schistosoma haematobium in humans). S. japonicum infections of the nervous system may cause an acute meningoencephalitis or a chronic encephalopathy. S. mansoni and S. haematobium nervous system infections are associated with acute transverse myelitis involving the lower portions of the spinal cord. (From Joynt, Clinical Neurology, 1998, Ch27, pp61-2) Sirarat Sarntivijai DOID:13722 @@ -347968,7 +347739,6 @@ Label : Leg-Calvé-Perthes disease - A Varicellovirus infectious disease that results_in infection located_in eye, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection. Virus infection of the Gasserian ganglion and its nerve branches characterized by pain and vesicular eruptions with much swelling. Ocular involvement is usually heralded by a vesicle on the tip of the nose. This area is innervated by the nasociliary nerve. Sirarat Sarntivijai DOID:8535 @@ -348460,7 +348230,6 @@ Label : Leg-Calvé-Perthes disease - A candidiasis that involves fungal infection of the mucous membrane of the mouth by Candida species, which is characterized by thick white or cream-colored deposits on inflamed mucosal membranes. Infection of the mucosal lining of the mouth with the fungus Candida albicans. Sirarat Sarntivijai thrush @@ -348785,7 +348554,6 @@ Label : Leg-Calvé-Perthes disease - A bone cancer that is located_in the area behind the eye and derives_from the orbit or secondarily derives_from an adjacent source (eyelid, paranasal sinus, or intracranial compartment). It results_in the eye pushing forward causing a bulging of the eye called proptosis. A primary or metastatic malignant neoplasm involving the orbit. Sirarat Sarntivijai neoplasm of orbit proper @@ -349752,7 +349520,6 @@ Label : Leg-Calvé-Perthes disease - A non-suppurative otitis media which is a collection of fluid that occurs in the middle ear space as a result of the negative pressure produced by altered Eustachian tube function. This can occur from viral upper respiratory infection or bacterial infection, or it can precede and/or follow acute bacterial otitis media. Otitis media associated with accumulation of fluid in the middle ear. Sirarat Sarntivijai true @@ -351916,7 +351683,6 @@ Label : Leg-Calvé-Perthes disease - A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain. An inflammatory process affecting the pericardium. Sirarat Sarntivijai pericarditis (disease) @@ -352227,7 +351993,6 @@ Label : Leg-Calvé-Perthes disease - A tonsillitis which involves collection of pus beside the tonsil (peritonsillar space). It is caused by both aerobic and anaerobic bacteria. Commonly involved species include streptococci, staphylococci and hemophilus. Progressively worsening unilateral sore throat and pain during swallowing usually are the earliest symptoms. As the abscess develops, persistent pain in the peritonsillar area, fever, malaise, headache and a distortion of vowels informally known as "\hot potato voice\" may appear. Neck pain associated with tender, swollen lymph nodes, referred ear pain and halitosis are also common. An abscess that develops in the space surrounding one or both palatine tonsils. Sirarat Sarntivijai true @@ -353179,7 +352944,6 @@ Label : Leg-Calvé-Perthes disease - A superficial mycosis that is a chronic, superficial fungal infection of the skin caused by Malassezia furfur, which is characterized by well-demarcated white, pink, fawn, or brownish lesions, often coalescing, and covered with thin furfuraceous scales. A yeast infection usually manifested as a superficial skin infection. It may also present as a systemic infection in patients who are receiving total parenteral nutrition. Sirarat Sarntivijai DOID:9060 @@ -354261,7 +354025,6 @@ Label : Leg-Calvé-Perthes disease - A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals. Malaria resulting from infection by Plasmodium vivax. Sirarat Sarntivijai DOID:12978 @@ -354423,7 +354186,6 @@ Label : Leg-Calvé-Perthes disease - An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac. Inflammation of the pleura secondary to an infection with Mycobacterium tuberculosis. Sirarat Sarntivijai DOID:106 @@ -354642,7 +354404,6 @@ Label : Leg-Calvé-Perthes disease - An opportunistic mycosis that has_material_basis_in Pneumocystis jirovecii, located_in lymph node, located_in spleen, located_in liver and located_in bone marrow, results_in_formation_of lesions. Infections with species in the genus pneumocystis, a fungus causing interstitial plasma cell pneumonia (pneumonia, pneumocystis) and other infections in humans and other mammals. Immunocompromised patients, especially those with aids, are particularly susceptible to these infections. Extrapulmonary sites are rare but seen occasionally. Sirarat Sarntivijai DOID:11340 @@ -355361,7 +355122,6 @@ Label : Leg-Calvé-Perthes disease - A Polyomaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomavirus, which cause respiratory symptoms, cystitis or skin cancer. Infections with polyomavirus, which are often cultured from the urine of kidney transplant patients. Excretion of bk virus is associated with ureteral strictures and cystitis, and that of jc virus with progressive multifocal leukoencephalopathy (leukoencephalopathy, progressive multifocal). Sirarat Sarntivijai DOID:647 @@ -355427,9 +355187,7 @@ Label : Leg-Calvé-Perthes disease - A condition caused by one or more episodes of DEEP VEIN THROMBOSIS, usually the blood clots are lodged in the legs. Clinical features include EDEMA; PAIN; aching; heaviness; and MUSCLE CRAMP in the leg. When severe leg swelling leads to skin breakdown, it is called venous STASIS ULCER. A condition characterized by a chronically swollen limb, often a leg with stasis dermatitis and ulcerations. This syndrome can appear soon after phlebitis or years later. Postphlebitic syndrome is the result of damaged or incompetent venous valves in the limbs. Distended, tortuous varicose veins are usually present. Leg pain may occur after long period of standing. - A venous insufficiency that is characterized by aching pain, heaviness, swelling, cramps, itching, or tingling in the affected limb and is a chronic complication of deep venous thrombosis. Sirarat Sarntivijai DOID:2364 ICD10CM:I87.0 @@ -355812,7 +355570,7 @@ Label : Leg-Calvé-Perthes disease - + @@ -355880,7 +355638,7 @@ Label : Leg-Calvé-Perthes disease - + @@ -355894,7 +355652,7 @@ Label : Leg-Calvé-Perthes disease - + EFO:0000784 @@ -357125,7 +356883,6 @@ Label : Leg-Calvé-Perthes disease Infections with nontuberculous mycobacteria (atypical mycobacteria): M. kansasii, M. marinum, M. scrofulaceum, M. flavescens, M. gordonae, M. obuense, M. gilvum, M. duvali, M. szulgai, M. intracellulare (see mycobacterium avium complex;), M. xenopi (littorale), M. ulcerans, M. buruli, M. terrae, M. fortuitum (minetti, giae), M. chelonae. - recurrent pneumonia due to nontuberculous mycobacterium infections Sirarat Sarntivijai recurrent pneumonia (disease) DOID:412 @@ -357234,7 +356991,6 @@ Label : Leg-Calvé-Perthes disease A disorder characterized by episodes of vigorous and often violent motor activity during rem sleep (sleep, rem). The affected individual may inflict self injury or harm others, and is difficult to awaken from this condition. Episodes are usually followed by a vivid recollection of a dream that is consistent with the aggressive behavior. This condition primarily affects adult males. (From Adams et al., Principles of Neurology, 6th ed, p393) - A sleep disorder that involves abnormal behavior including the acting out of violent or dramatic dreams during the sleep phase with rapid eye movement. Sirarat Sarntivijai true @@ -358116,7 +357872,6 @@ Label : Leg-Calvé-Perthes disease - A syndrome characterized by acute brain damage and liver function problems. It has been associated with aspirin consumption by children with viral illness, although it also occurs in the absence of aspirin use. An acute and potentially fatal metabolic disorder characterized by cerebral edema, fatty liver and hypoglycemia. It occurs primarily in children and has been associated with the use of aspirin for the treatment of viral infections. However, it can also occur in the absence of aspirin use. Sirarat Sarntivijai https://github.com/monarch-initiative/mondo/issues/3608 @@ -358758,7 +358513,6 @@ Label : Leg-Calvé-Perthes disease - A pneumonia that is caused by the bacterial genus Rickettsia. This infection results in pleural effusions and pulmonary edema. Pneumonia caused by infection with bacteria of the family rickettsiaceae. Sirarat Sarntivijai DOID:13275 @@ -359664,7 +359418,7 @@ Label : Leg-Calvé-Perthes disease - + @@ -359697,7 +359451,7 @@ Label : Leg-Calvé-Perthes disease - + @@ -359713,7 +359467,7 @@ Label : Leg-Calvé-Perthes disease - + EFO:0000784 @@ -359944,7 +359698,6 @@ Label : Leg-Calvé-Perthes disease - A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted_by trombiculid mites (Leptotrombidium deliense). The infection has_symptom fever, has_symptom headache, has_symptom muscle pain, has_symptom cough, has_symptom maculopapular rash, has_symptom eschar, has_symptom splenomegaly and has_symptom lymphadenopathy. Scrub typhus is a rare dust mite-borne infectious disease caused by the Orientia tsutsugamushi bacterium and characterized clinically by an eruptive fever which is potentially serious. Sirarat Sarntivijai @@ -360503,7 +360256,6 @@ Label : Leg-Calvé-Perthes disease A group of symptoms that are two- to three-fold more common in those who work in large, energy-efficient buildings, associated with an increased frequency of headaches, lethargy, and dry skin. Clinical manifestations include hypersensitivity pneumonitis (alveolitis, extrinsic allergic); allergic rhinitis (rhinitis, allergic, perennial); asthma; infections, skin eruptions, and mucous membrane irritation syndromes. Current usage tends to be less restrictive with regard to the type of building and delineation of complaints. (From Segen, Dictionary of Modern Medicine, 1992) - An extrinsic allergic alveolitis that is characterized by a set of symptoms such as headache, fatigue, eye irritation, and breathing difficulties that affect workers in modern airtight office buildings. The disease is caused by indoor pollutants (as formaldehyde fumes, particulate matter, or microorganisms), and the symptoms tend to disappear when affected individuals leave the building. Sirarat Sarntivijai DOID:2710 MEDGEN:48661 @@ -360601,7 +360353,6 @@ Label : Leg-Calvé-Perthes disease - A pneumoconiosis that is an inflammation and scarring of the uper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles. Silicosis is a respiratory disease caused by breathing in (inhaling) silica dust. There are three types of silicosis: Simple chronic silicosis, the most common type of silicosis, results from long-term exposure (usually more than 20years) to low amounts of silica dust. Simple chronic silicosismay causepeople to have difficulty breathing. Accelerated silicosis occurs after 5 to 15 yearsof exposure of higher levels of silica.Swelling of the lungsand other symptoms occur faster in this type of silicosis than in the simple chronic form. Acute silicosis results from short-term exposure (weeks or months) of large amounts of silica.The lungs become very inflamed and can fill with fluid, causing severe shortness of breath and low blood oxygen levels. A cough, weight loss, and fatigue may also be present. Acute silicosis progresses rapidly and can be fatal within months. People who work in jobs where they are exposed to silica dust (mining, quarrying, construction, sand blasting, stone cutting) are at risk of developing this condition. Sirarat Sarntivijai DOID:10325 @@ -360962,7 +360713,6 @@ Label : Leg-Calvé-Perthes disease - An extrapulmonary tuberculosis that results in formation of lesions located_in bone. Tuberculosis of the bones or joints. Sirarat Sarntivijai DOID:1639 @@ -361082,7 +360832,6 @@ Label : Leg-Calvé-Perthes disease A condition resulting from infection with the second stage larvae of the parasite Spirometra. - A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected. Sirarat Sarntivijai DOID:10080 ICD10CM:B70.1 @@ -362034,7 +361783,6 @@ Label : Leg-Calvé-Perthes disease - A bone structure disease that has_material_basis_in displacement located_in set of vertebrae. A condition in which there is forward displacement of a vertebral bone over the on below it. Sirarat Sarntivijai spondylolisthesis (disease) @@ -362587,7 +362335,6 @@ Label : Leg-Calvé-Perthes disease - A staphylococcal infectious disease that is caused due to the infection by Gram-positive bacterium Staphylococcus aureus, which is an important cause of hospital-acquired infection that results in the formation of abscesses, empyema, pneumothorax, and cyst. Pneumonia caused by infections with bacteria of the genus staphylococcus, usually with staphylococcus aureus. Sirarat Sarntivijai DOID:12608 @@ -364393,7 +364140,6 @@ Label : Leg-Calvé-Perthes disease - A parasitic protozoa infectious disease that involves infection of humans and cattle caused by a genus of parasitic protozoa Theileria, which is transmitted by ixodid ticks. Infection of cattle, sheep, or goats with protozoa of the genus theileria. This infection results in an acute or chronic febrile condition. Sirarat Sarntivijai DOID:3733 @@ -366105,7 +365851,6 @@ Label : Leg-Calvé-Perthes disease - A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted_by body lice (Pediculus humanus corporis). The infection has_symptom relapsing fever, has_symptom headache, has_symptom shin pain, and has_symptom soreness of the muscles of the legs and back. An intermittent fever characterized by intervals of chills, fever, and splenomegaly each of which may last as long as 40 hours. It is caused by bartonella quintana and transmitted by the human louse. Sirarat Sarntivijai DOID:11101 @@ -366401,7 +366146,6 @@ Label : Leg-Calvé-Perthes disease - A Trichomonas vaginalis trichomoniasis that involves inflammation of the vagina caused by Trichomonas vaginalis. The symptoms include foul vaginal odor, burning during urination, vaginal discharge and irritation of the genital area. A sexually transmitted parasitic infection caused by Trichomonas vaginalis. Symptoms include vaginal discharge, vaginal odor, vaginal itching, and discomfort during intercourse. Sirarat Sarntivijai DOID:0050269 @@ -367234,7 +366978,6 @@ Label : Leg-Calvé-Perthes disease - A viral infectious disease that results_in inflammation located_in spinal cord, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, and transmitted_by breast feeding. The infection has_symptom spastic weakness of both legs, has_symptom muscle stiffness, has_symptom sensory disturbance, and has_symptom spasms. Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection. Sirarat Sarntivijai true @@ -368097,7 +367840,6 @@ Label : Leg-Calvé-Perthes disease A general term for mycobacterium infections of any part of the urogenital system in either the male or the female. - An extrapulmonary tuberculosis that is located_in urogenital system. Sirarat Sarntivijai DOID:2149 ICD9:016 @@ -369972,7 +369714,6 @@ Label : Leg-Calvé-Perthes disease A serious disorder characterized by massive adrenal gland hemorrhage secondary to a bacterial infection, most often Neisseria meningitidis infection. It is manifested with decreased blood pressure, shock, disseminated intravascular coagulation, and adrenocortical insufficiency. - An adrenal gland disease that is characterized by failure of the adrenal gland due to bleeding into the gland. Sirarat Sarntivijai DOID:9931 GARD:9449 @@ -372022,7 +371763,6 @@ The main Ensembl Plants site (http://plants.ensembl.org/Triticum_aestivum/Info/I HAP1 is a near-haploid human cell line that was derived from the male chronic myelogenous leukemia (CML) cell line KBM-7. HAP1 cells are adherent with fibroblast-like morphology. - Human chronic myelogenous leukemia cell line Kalpana Panneerselvam Zoe May Pendlington 2024-02-14T16:54:54Z @@ -372031,7 +371771,6 @@ The main Ensembl Plants site (http://plants.ensembl.org/Triticum_aestivum/Info/I RRID:CVCL_Y019 HAP1 HAP-1 - HAP1 @@ -377593,7 +377332,6 @@ of diseased coronary vessels at the time of a catheterization procedure. The var Chronic form of venous insufficiency (disease). - morphological and functional abnormalities of the venous system of long duration manifested either by symptoms and/or signs indicating the need for investigation and/or care Dani Welter true DOID:0050853 @@ -386776,7 +386514,6 @@ label: granulocyte colony-stimulating factor measurement - Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary. Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Secondary hyperparathyroidism is caused by the chronic stimulation of the parathyroid glands in patients with chronic renal failure, rickets, and malabsorption syndromes. Laura Huerta true @@ -389660,7 +389397,6 @@ label: granulocyte colony-stimulating factor measurement A motor neuron disease that affect the muscles, and characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with spinal muscular atrophy (SMA) experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1, BICD2, or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person. - Spinal muscular atrophy is a disorder of spinal motor neurons characterized clinically by the development of muscle weakness and atrophy. Laura Huerta https://doi.org/10.1093/brain/awr229 @@ -391869,7 +391605,6 @@ label: granulocyte colony-stimulating factor measurement A parasitic infection caused by Trypanosoma cruzi. It is transmitted by insect bites. It is characterized by an acute and chronic phase; in the acute phase patients may have fever, malaise, and swelling at the site of the insect bite. In the chronic phase patients develop hepatosplenomegaly, lymphadenopathy, cardiomyopathy and arrhythmias. [ NCI ] - American trypanosomiasis, commonly known as Chagas disease (ChD), is a tropical disease mainly found in latin America and transmitted by triatomine insects (mostly Triatoma infestans and Rhodnius prolixus and Panstrongylus megistus) harboring the hemoflagellate protozoan parasite Trypanosoma cruzi. The disease is characterized by an acute phase which is either asymptomatic or manifest with fever, inflammation at the inoculation site (inoculation chancre or chagoma), unilateral palpebral edema called the Romaña sign (when the triatomine bite occurs near the eye), enlarged lymph nodes, and splenomegaly. The chronic phase is lifelong and development of chagasic cardiomyopathy (30%; complex arrhythmias, heart failure, and thromboembolic events), digestive (10%; megaoesophagus and megacolon), neurological (10%; stroke, peripheral neuropathy and autonomic dysfunction), or mixed alterations (10%) may be observed. These can all lead to high morbidity and mortality rates. [ ORDO ] KEGG:05142 DOID:12140 ICD10:B57.0 @@ -392386,7 +392121,6 @@ label: granulocyte colony-stimulating factor measurement Conjunctivitis resulting from viral infection. - Inflammation, often mild, of the conjunctiva caused by a variety of viral agents. Conjunctival involvement may be part of a systemic infection [MeSH] Zoe May Pendlington ICD10:B30 MEDGEN:3212 @@ -392795,7 +392529,6 @@ label: granulocyte colony-stimulating factor measurement A disease involving the saliva-secreting gland. - A non-neoplastic or neoplastic (benign or malignant) disorder involving a salivary gland. [ NCI ] Zoe May Pendlington true DOID:10854 @@ -393893,7 +393626,6 @@ label: granulocyte colony-stimulating factor measurement An autoimmune disease characterized by blisters on the skin. - Subepidermal autoimmune bullous diseases of the skin and mucosae comprise a large group of chronic diseases, including bullous pemphigoid, pemphigoid gestationis, mucous membrane pemphigoid, linear IgA bullous dermatosis, epidermolysis bullosa acquisita, and anti-p200 pemphigoid. These diseases are characterized by an antibody response toward structural components of the basement membrane zone, resulting in subepidermal blistering. [ PMID:29159697 ] bullous skin disease DOID:8502 GARD:19028 @@ -394211,7 +393943,6 @@ label: granulocyte colony-stimulating factor measurement - Paraneoplastic pemphigus is an autoimmune disorder stemming from an underlying tumor. Pemphigus is a group of chronic autoimmune skin diseases characterized by blisters formation on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterized, of which paraneoplastic pemphigus is extremely rare. DOID:0080852 GARD:18858 @@ -395024,7 +394755,6 @@ label: granulocyte colony-stimulating factor measurement A congenital or acquired kidney disorder characterized by the presence of renal cysts. - A congenital or acquired kidney disorder characterized by the presence of renal cysts. [ NCI ] Zoe May Pendlington true DOID:2975 @@ -395051,7 +394781,7 @@ label: granulocyte colony-stimulating factor measurementrenal cyst EFO:0008615 - Cystic Kidney Disease + cystic kidney disease @@ -405964,7 +405694,6 @@ label: granulocyte colony-stimulating factor measurement Inflammation of a synovial membrane. - Inflammation of the SYNOVIAL MEMBRANE [ MeSH ] Zoe May Pendlington synovitis (disease) DOID:2703 @@ -406899,7 +406628,6 @@ label: granulocyte colony-stimulating factor measurement The inability of the ovaries to function. - The inability of the ovaries to function. [ NCI ] Zoe May Pendlington true DOID:1414 @@ -409375,7 +409103,6 @@ Use: http://purl.obolibrary.org/obo/MONDO_0019289 Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA). - Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD; see this term) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA) (see these terms). Hannah McLaren https://github.com/monarch-initiative/mondo/issues/5507 DOID:0081388 @@ -414003,7 +413730,6 @@ It allows sampling of specific cells under direct microscopic visualization. A f A hypermetabolic syndrome caused by the elevation of thyroid hormone levels in the serum. Signs and symptoms include tachycardia, palpitations, tremor, weight loss, warm weather intolerance, and moist skin. Causes include Graves disease, toxic nodular goiter, toxic thyroid nodule, and lymphocytic thyroiditis. - A hypermetabolic syndrome caused by the elevation of thyroid hormone levels in the serum. Signs and symptoms include tachycardia, palpitations, tremor, weight loss, warm weather intolerance, and moist skin. Causes include Graves disease, toxic nodular goiter, toxic thyroid nodule, and lymphocytic thyroiditis. [ NCI ] Zoe May Pendlington true DOID:7997 @@ -416802,7 +416528,6 @@ It allows sampling of specific cells under direct microscopic visualization. A f A disorder characterized by confusion; inattentiveness; disorientation; illusions; hallucinations; agitation; and in some instances autonomic nervous system overactivity. It may result from toxic/metabolic conditions or structural brain lesions. (From Adams et al., Principles of Neurology, 6th ed, pp411-2) - A state of sudden and severe confusion. true ICD9:293.0 MEDGEN:41445 @@ -418337,7 +418062,6 @@ It allows sampling of specific cells under direct microscopic visualization. A f A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood. - A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood. [ NCIt:C2902 ] Zoe May Pendlington true DOID:1247 @@ -420585,7 +420309,6 @@ to hypernasality and abnormal speech reduction. - Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved. Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions dysplay collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis. https://github.com/monarch-initiative/mondo/issues/6749 @@ -421900,7 +421623,6 @@ to hypernasality and abnormal speech reduction. - Infections with bacteria of the species Yersinia pestis. Plague is a severe bacterial infection caused by the gram-negative bacterium Yersinia pestis. Yersiniosis DOID:3482 @@ -422641,7 +422363,6 @@ to hypernasality and abnormal speech reduction. A disease involving the lower respiratory tract. - A disease that affects the lower respiratory tract. true DOID:0050161 ICD10:J22 @@ -423447,7 +423168,6 @@ to hypernasality and abnormal speech reduction. A corneal disease that is characterized by inflammation of the cornea. - Inflammation of the cornea. [ NCIt:P378 ] true DOID:4677 ICD10:H16 @@ -423787,7 +423507,6 @@ to hypernasality and abnormal speech reduction. - Hypoparathyroidism is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms include abdominal pain, brittle nails, cataracts, dry hair and skin, muscle cramps, tetany, pain in the face, legs, and feet, seizures, tingling sensation, and weakened tooth enamel (in children). It may be caused by injury to the parathyroid glands (e.g. during surgery). Other causes include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism, metabolic alkalosis, DiGeorge syndrome, and type I polyglandular autoimmune syndrome. The goal of treatment is to restore the calcium and mineral balance in the body. [ https://rarediseases.info.nih.gov/diseases/6733/hypoparathyroidism ] Hypoparathyroidism is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms include abdominal pain, brittle nails, cataracts, dry hair and skin, muscle cramps, tetany, pain in the face, legs, and feet, seizures, tingling sensation, and weakened tooth enamel (in children). It may be caused by injury to the parathyroid glands (e.g., during surgery). Other causes, include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism, metabolic alkalosis, DiGeorge syndrome, and type I polyglandular autoimmune syndrome. The goal of treatment is to restore the calcium and mineral balance in the body. DOID:11199 GARD:6733 @@ -424666,7 +424385,6 @@ to hypernasality and abnormal speech reduction. A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus. - A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus. [ NCIt:C26809 ] true DOID:1400 ICD10:H04 @@ -426114,7 +425832,6 @@ Also see: https://github.com/EBISPOT/efo/issues/913 Immunologically mediated adverse reactions to medicinal substances used legally or illegally. - Immunologically mediated adverse reactions to medicinal substances used legally or illegally. [ MESH ] true DOID:0060500 MEDGEN:41663 @@ -429698,7 +429415,6 @@ Also see: https://github.com/EBISPOT/efo/issues/913 A form of Guillain-Barre syndrome (GBS) that occurs in persons or families with a genetic predisposition to the acute or chronic forms of GBS. Note that GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors, and families with clear Mendelian inheritance have been rarely reported: a mutation in the PMP22 gene (601097) on chromosome 17 was identified in a single family with the acute (AIDP) and chronic (CIDP) forms of inflammatory demyelinating polyneuropathy. - Chronic inflammatory demyelinating polyneuropathy (CIDP) is a chronic monophasic, progressive or relapsing symmetric sensorimotor disorder characterized by progressive muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins. https://github.com/monarch-initiative/mondo/issues/3467 https://github.com/monarch-initiative/mondo/issues/4521 @@ -438952,7 +438668,6 @@ Also see: https://github.com/EBISPOT/efo/issues/913 An acute and painful inflammatory process that affects the pharynx. It is usually caused by viruses and less often bacteria. Signs and symptoms include discomfort on swallowing, low-grade fever, headache, and earache. - An acute and painful inflammatory process that affects the pharynx. It is usually caused by viruses and less often bacteria. Signs and symptoms include discomfort on swallowing, low-grade fever, headache, and earache. [database_cross_reference: NCIt:C34355] true ICD10:J02 MEDGEN:114 @@ -440867,7 +440582,7 @@ Also see: https://github.com/EBISPOT/efo/issues/913 - + @@ -440885,7 +440600,6 @@ Also see: https://github.com/EBISPOT/efo/issues/913 A non-neoplastic or neoplastic disorder affecting the inner ear. Causes are inner ear infections, head injuries, and neoplasms (e.g., acoustic schwannoma). Symptoms include dizziness, imbalance, nausea, and vision problems. - A non-neoplastic or neoplastic disorder affecting the inner ear. Causes are inner ear infections, head injuries, and neoplasms (e.g., acoustic schwannoma). Symptoms include dizziness, imbalance, nausea, and vision problems. [database_cross_reference: NCIt:C27166] true DOID:2952 ICD10:H83 @@ -440919,7 +440633,7 @@ Also see: https://github.com/EBISPOT/efo/issues/913 - + @@ -440940,7 +440654,7 @@ Also see: https://github.com/EBISPOT/efo/issues/913 - + NCIT:C27166 @@ -441283,7 +440997,6 @@ Also see: https://github.com/EBISPOT/efo/issues/913 A disease involving the lens of camera-type eye. - A disease involving the lens of camera-type eye. [database_cross_reference: MONDO:DesignPattern] true DOID:110 ICD10:H27 @@ -441980,7 +441693,6 @@ Also see: https://github.com/EBISPOT/efo/issues/913 Complete paralysis of the lower half of the body including both legs, often caused by damage to the spinal cord. - Complete paralysis of the lower half of the body including both legs, often caused by damage to the spinal cord. [database_cross_reference: NCIt:P378] true DOID:607 @@ -443450,7 +443162,6 @@ Also see: https://github.com/EBISPOT/efo/issues/913 A disease involving the urethra. - A disease involving the urethra. [database_cross_reference: MONDO:DesignPattern] true DOID:732 ICD10:N36 @@ -443897,7 +443608,6 @@ Also see: https://github.com/EBISPOT/efo/issues/913 Pathological processes of the vestibular labyrinth which contains part of the balancing apparatus. Patients with vestibular diseases show instability and are at risk of frequent falls. - Pathological processes of the vestibular labyrinth which contains part of the balancing apparatus. Patients with vestibular diseases show instability and are at risk of frequent falls. [database_cross_reference: MeSH:D015837] true DOID:3426 ICD10:H81 @@ -444063,7 +443773,6 @@ Also see: https://github.com/EBISPOT/efo/issues/913 A pathologic process in the larynx that affects the production of speech. Causes include vocal cord paresis, vocal cord nodule, vocal cord polyp, and laryngitis. - A pathologic process in the larynx that affects the production of speech. Causes include vocal cord paresis, vocal cord nodule, vocal cord polyp, and laryngitis. [database_cross_reference: NCIt:C3441] http://purl.obolibrary.org/obo/SYMP_0000559 true ICD10:R49 @@ -444936,7 +444645,6 @@ Also see: https://github.com/EBISPOT/efo/issues/913 A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting five or more separate joints during the first six months of disease, with positive serologic testing for rheumatoid factor. - A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting five or more separate joints during the first six months of disease, with positive serologic testing for rheumatoid factor. [ NCIt:C119034 ] GARD:19064 MEDGEN:855737 MONDO:0019435 @@ -445473,7 +445181,6 @@ Also see: https://github.com/EBISPOT/efo/issues/913 Unspecified juvenile idiopathic arthritis is a rare, pediatric, rheumatologic disease, a subtype of juvenile idiopathic arthritis (JIA) characterized by arthritis of an unknown cause that persists for at least 6 weeks, and does not fulfill the criteria for any of the other JIA subtypes, or fulfills criteria for more than one of the other subtypes. - Unspecified juvenile idiopathic arthritis is a rare, pediatric, rheumatologic disease, a subtype of juvenile idiopathic arthritis (JIA) characterized by arthritis of an unknown cause that persists for at least 6 weeks, and does not fulfill the criteria for any of the other JIA subtypes, or fulfills criteria for more than one of the other subtypes. [ Orphanet:91140 ] GARD:19155 MEDGEN:1842681 MONDO:0019607 @@ -448445,7 +448152,6 @@ Also see: https://github.com/EBISPOT/efo/issues/913 - A disease involving a pathogenic inflammatory response in an anatomical structure. [ MONDO:patterns/inflammatory_disease_by_site ] A disease involving a pathogenic inflammatory response in the anatomical structure. true ICD9:799.89 @@ -469017,7 +468723,7 @@ Use: http://purl.obolibrary.org/obo/CL_0009024 The state of primary insensitivity or greatly reduced sensitivity of a given organism to the action of one or more drugs. zmp - NCIT:C16523 + NCIT:C16523 drug resistance @@ -522915,6 +522621,20 @@ Smart-seq3 is a continuation and improvement of the Smart-seq technology, specif + + + + + Characteristics of a person such as education and occupation, used to describe the person's position in stratification systems, access to services, etc. + Zoe May Pendlington + 2024-11-08T09:52:24Z + class + socioeconomic factors + socioeconomic status + + + + @@ -579467,7 +579187,6 @@ Smart-seq3 is a continuation and improvement of the Smart-seq technology, specif A syndrome typically consisting of angina (cardiac chest pain) at rest that occurs in cycles. It is caused by vasospasm, a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis (buildup of fatty plaque and hardening of the arteries). For a portion of patients Prinzmetal's angina may be a manifestation of vasospastic disorder and is associated with migraine, Raynaud's phenomenon or aspirin-induced asthma. - a syndrome typically consisting of angina (cardiac chest pain) at rest that occurs in cycles. It is caused by vasospasm, a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis (buildup of fatty plaque and hardening of the arteries). Sirarat Sarntivijai DOID:0111151 ICD9:413.1 @@ -580156,7 +579875,6 @@ A syndrome typically consisting of angina (cardiac chest pain) at rest that occu A disease involving the urinary bladder. - A disorder affecting the urinary bladder Laura Huerta true DOID:365 @@ -582931,7 +582649,7 @@ A syndrome typically consisting of angina (cardiac chest pain) at rest that occu - + @@ -582972,7 +582690,7 @@ A syndrome typically consisting of angina (cardiac chest pain) at rest that occu - + @@ -582984,7 +582702,7 @@ A syndrome typically consisting of angina (cardiac chest pain) at rest that occu - + EFO:0000784 @@ -583056,7 +582774,6 @@ A syndrome typically consisting of angina (cardiac chest pain) at rest that occu Metabolic acidosis characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia. - Metabolic disease characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia Laura Huerta DOID:3650 MEDGEN:1717 @@ -585943,7 +585660,6 @@ A syndrome typically consisting of angina (cardiac chest pain) at rest that occu A neoplasm involving a sex cord. - A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary and testis. Sirarat Sarntivijai DOID:192 @@ -587296,7 +587012,7 @@ A syndrome typically consisting of angina (cardiac chest pain) at rest that occu - + @@ -587329,7 +587045,7 @@ A syndrome typically consisting of angina (cardiac chest pain) at rest that occu - + @@ -587342,7 +587058,7 @@ A syndrome typically consisting of angina (cardiac chest pain) at rest that occu - + EFO:0000784 @@ -590199,7 +589915,7 @@ Label : Disorder of carbohydrate metabolism - + @@ -590245,7 +589961,7 @@ Label : Disorder of carbohydrate metabolism - + @@ -590257,7 +589973,7 @@ Label : Disorder of carbohydrate metabolism - + NCIT:C4827 @@ -592219,7 +591935,6 @@ Label : Disorder of carbohydrate metabolism - A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells in a myxoid stroma. A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells, and vascular proliferation in a myxoid stroma. https://github.com/monarch-initiative/mondo/issues/5537 EFO:1000087 @@ -592258,12 +591973,6 @@ Label : Disorder of carbohydrate metabolism NCIT:C3254/inferred - - - - A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells in a myxoid stroma. - NCIT:P378 - @@ -609848,7 +609557,6 @@ Label : Disorder of carbohydrate metabolism Any disorder of the conjunctiva. - Any disorder of the conjunctiva. true DOID:4251 ICD10:H11 @@ -611989,7 +611697,7 @@ Label : Disorder of carbohydrate metabolism - + @@ -612037,7 +611745,7 @@ Label : Disorder of carbohydrate metabolism - + @@ -612049,7 +611757,7 @@ Label : Disorder of carbohydrate metabolism - + NCIT:C36207 @@ -613590,7 +613298,7 @@ Label : Disorder of carbohydrate metabolism - + @@ -613615,7 +613323,7 @@ Label : Disorder of carbohydrate metabolism - + @@ -613628,7 +613336,7 @@ Label : Disorder of carbohydrate metabolism - + EFO:0000784 @@ -617570,7 +617278,7 @@ Label : Disorder of carbohydrate metabolism - + @@ -617603,7 +617311,7 @@ Label : Disorder of carbohydrate metabolism - + @@ -617617,7 +617325,7 @@ Label : Disorder of carbohydrate metabolism - + EFO:0000784 @@ -628523,7 +628231,7 @@ Label : Disorder of carbohydrate metabolism - + @@ -628652,7 +628360,7 @@ Label : Disorder of carbohydrate metabolism - + @@ -628665,7 +628373,7 @@ Label : Disorder of carbohydrate metabolism - + EFO:0000784 @@ -632469,7 +632177,7 @@ Label : Disorder of carbohydrate metabolism - + @@ -632523,7 +632231,7 @@ Label : Disorder of carbohydrate metabolism - + @@ -632538,7 +632246,7 @@ Label : Disorder of carbohydrate metabolism - + EFO:0000784 @@ -632880,7 +632588,7 @@ Label : Disorder of carbohydrate metabolism - + @@ -632922,7 +632630,7 @@ Label : Disorder of carbohydrate metabolism - + @@ -632934,7 +632642,7 @@ Label : Disorder of carbohydrate metabolism - + NCIT:C5907 @@ -635860,7 +635568,6 @@ Label : malignant epithelioid mesothelioma A malignant neoplasm involving the pancreas. - A primary or metastatic malignant tumor involving the pancreas. Representative examples include carcinoma and lymphoma. -- 2003 pancreas neoplasm DOID:1793 ICD9:157.0 @@ -638984,7 +638691,6 @@ Label : malignant epithelioid mesothelioma - A benign or malignant neoplasm that arises from the salivary glands. It is characterized by the presence of epithelial and mesenchymal elements. This category includes pleomorphic adenoma, carcinoma ex pleomorphic adenoma, and carcinosarcoma. A neoplasm (disease) that involves the saliva-secreting gland. MEDGEN:20641 MONDO:0021357 @@ -649395,7 +649101,6 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma A hyperplasia that involves the parathyroid gland. - Parathyroid hyperplasia is the enlargement of all four parathyroid glands. The parathyroid glands are glands in the neck that produce parathyroid hormone (PTH). (https://www.nlm.nih.gov/medlineplus/ency/article/001189.htm) parathyroid hyperplasia (disease) HP:0008208 MEDGEN:75767 @@ -659850,7 +659555,7 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma - + @@ -659898,7 +659603,7 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma - + @@ -659919,7 +659624,7 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma - + EFO:0000784 @@ -661626,7 +661331,7 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma - + @@ -661680,7 +661385,7 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma - + @@ -661694,7 +661399,7 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma - + EFO:0000784 @@ -662734,7 +662439,7 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma - + @@ -662780,7 +662485,7 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma - + @@ -662794,7 +662499,7 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma - + EFO:0000784 @@ -665607,7 +665312,7 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma - + @@ -665661,7 +665366,7 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma - + @@ -665674,7 +665379,7 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma - + EFO:0000784 @@ -679461,7 +679166,6 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma A disease involving the thyroid gland. - A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages. Sirarat Sarntivijai true DOID:50 @@ -680037,7 +679741,6 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma A group of disorders affecting the development of movement and posture, often accompanied by disturbances of sensation, perception, cognition, and behavior. It results from damage to the fetal or infant brain. - Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems. Sirarat Sarntivijai CSP:0723-4729 @@ -681023,7 +680726,6 @@ These disorders are common in people of all ages and races. They are characteriz - A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (BASAL GANGLIA) A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (basal ganglia), such as infarction; hemorrhage; or ischemia in vessels of this brain region including the lateral lenticulostriate arteries. Primary clinical manifestations include involuntary movements (dyskinesias) and muscle weakness (hemiparesis). DOID:10991 MEDGEN:148381 @@ -681132,7 +680834,6 @@ These disorders are common in people of all ages and races. They are characteriz Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in glucose-6-phosphate isomerase; pyruvate kinase; and glucose-6-phosphate dehydrogenase. - Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. In some cases, pyruvate kinase deficiency has been demonstrated; in other cases, glucose-6-phosphate dehydrogenase deficiency has been demonstrated. https://github.com/monarch-initiative/mondo/issues/4069 DOID:2861 ICD9:282.3 @@ -681572,7 +681273,6 @@ These disorders are common in people of all ages and races. They are characteriz - A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart . A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart. https://github.com/obophenotype/human-phenotype-ontology/issues/7613 DOID:0111154 @@ -681975,7 +681675,6 @@ These disorders are common in people of all ages and races. They are characteriz - Genetic defects in the selective or non-selective transport functions of the KIDNEY TUBULES. Genetic defects in the selective or non-selective transport functions of the kidney tubules. DOID:447 @@ -684357,7 +684056,6 @@ These disorders are common in people of all ages and races. They are characteriz - A contact dermititis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign. An inflammatory skin condition caused by an immune response to direct contact between the skin and an allergen. It consists of a delayed type of allergic reaction at the affected site with resulting red, swollen, and blistered skin that may itch or leak. Sirarat Sarntivijai DOID:3042 @@ -685004,7 +684702,6 @@ Use: Orphanet_464 Label: Incontinentia pigmenti A cholesteatoma in the attic - a cholesteatoma in the attic Sirarat Sarntivijai DOID:10963 ICD9:385.31 @@ -685845,7 +685542,6 @@ Use: Orphanet_464 Label: Incontinentia pigmenti An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues. - a rare condition characterized by an almost total lack of fatty (adipose) tissue in the body and a very muscular appearance. Adipose tissue is found in many parts of the body, including beneath the skin and surrounding the internal organs. It stores fat for energy and also provides cushioning. Congenital generalized lipodystrophy is part of a group of related disorders known as lipodystrophies, which are all characterized by a loss of adipose tissue. A shortage of adipose tissue leads to the storage of fat elsewhere in the body, such as in the liver and muscles, which causes serious health problems. Sirarat Sarntivijai congenital generalized lipodystrophy (disease) http://ghr.nlm.nih.gov/condition/congenital-generalized-lipodystrophy @@ -686800,7 +686496,6 @@ Use: Orphanet_464 Label: Incontinentia pigmenti A recurrent eczematous reaction characterized by the development of vesicular eruptions on the palms and soles, particularly along the sides and between the digits. It is accompanied by pruritus, a burning sensation, and hyperhidrosis. The disease is self-limiting, lasting only a few weeks. (Dorland, 27th ed) - a skin condition that is characterized by small blisters on the hands or feet. It is an acute, chronic, or recurrent dermatosis of the fingers, palms, and soles, characterized by a sudden onset of many deep-seated pruritic, clear vesicles; later, scaling, fissures and lichenification occur. Recurrence is common and for many can be chronic. Incidence/prevalence is said to be 1/5,000 in the United States. However, many cases of eczema are diagnosed as garden-variety atopic eczema without further investigation, so it is possible that this figure is misleading.This condition is not contagious to others, but the compromised integument can increase susceptibility to infection, and the accompanying itching can be a source of psychological distress Sirarat Sarntivijai DOID:9230 ICD9:692.9 @@ -686971,7 +686666,6 @@ Use: Orphanet_464 Label: Incontinentia pigmenti Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive. Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool. - a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes, with an incidence of 20 per million newborns in the United States.It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal. Sirarat Sarntivijai DOID:2730 GARD:6359 @@ -687624,7 +687318,6 @@ Use: Orphanet_464 Label: Incontinentia pigmenti A self-limited viral infectious disorder caused by the human parvovirus B19. It affects predominantly children and is characterized by the development of a bright red skin eruption in the cheeks. It is followed by a maculopapular skin eruption in the extremities which eventually fades into a lacey pattern. - usually a benign childhood condition characterized by a classic slapped-cheek appearance (see the image below) and lacy exanthem.It results from infection with human parvovirus (PV) B19, an erythrovirus. Sirarat Sarntivijai http://emedicine.medscape.com/article/1132078-overview DOID:8743 @@ -688489,7 +688182,6 @@ Use: Orphanet_464 Label: Incontinentia pigmenti A benign polypoid lesion of mesodermal origin that arises from the urethra. - Benign urothelial polyp with both epithelial and stromal components. Usually a solitary lesion in bladder and urethra in adults, upper tract in children. Generally scant inflammation and no associated cystitis. Cystoscopic appearance is suggestive of papillary neoplasm rather than cystitis Sirarat Sarntivijai http://surgpathcriteria.stanford.edu/bladder/fibroepithelial-polyp/printable.html @@ -688968,7 +688660,6 @@ Use: Orphanet_464 Label: Incontinentia pigmenti A chronic skin disease most common in women aged 13-35 years.It is characterized by the development of intense itching in the underarm area, the pubic area, and around the nipple of the breast as a result of perspiration which becomes trapped in the sweat gland and surrounding areas. The cause is unknown, but heat, humidity, and stress may play a role. Treatment may include the use of retinoids, antibiotics, and immunosuppressants. - a chronic blockage of the sweat gland ducts with a secondary, non-bacterial inflammatory response to the secretions and cellular debris in the cysts. Hidradenitisis very similar, but tends to have a secondary bacterial infection so that pus-draining sinuses are formed. Sirarat Sarntivijai DOID:1381 ICD10CM:L75.2 @@ -691083,7 +690774,6 @@ Use: Orphanet:435 Label: Ito hypomelanosis Kimura disease is a benign and chronic inflammatory disorder of unknown etiology, occurring mainly in Asian countries (very rarely in Western countries) and predominantly affecting young men, that usually presents with a solitary or multiple non-tender subcutaneous masses in the head and neck region (in particular the preauricular and submandibular area) and/or generalized painless lymphadenopathy, often with salivary gland involvement. Characteristic laboratory findings include blood eosinophilia and markedly elevated serum immunoglobulin E (IgE) levels. It is often associated with autoinflammatory disorders (i.e. ulcerative colitis, bronchial asthma) and a co-existing renal disease. - a benign rare chronic inflammatory disorder. Its primary symptoms are subdermal lesions in the head or neck or painless unilateral inflammation of cervical lymph nodes. Sirarat Sarntivijai https://github.com/monarch-initiative/mondo/issues/3599 @@ -693036,7 +692726,6 @@ Use: Orphanet:435 Label: Ito hypomelanosis A benign, flat, congenital birthmark, with wavy borders and an irregular shape. The color is caused by melanocytes, melanin-containing cells, that are usually located in the surface of the skin (the epidermis), but are in the deeper region (the dermis) in the location of the spot. - congenital dermal melanocytosis, and dermal melanocytosis is a benign, flat, congenital birthmark with wavy borders and irregular shape. Sirarat Sarntivijai DOID:4702 MEDGEN:75591 @@ -694446,7 +694135,6 @@ Use: Orphanet:435 Label: Ito hypomelanosis Inflammation of the subcutaneous adipose tissue. - a group of diseases whose hallmark is inflammation of subcutaneous adipose tissue (the fatty layer under the skin - panniculus adiposus). Symptoms include tender skin nodules, and systemic signs such as weight loss and fatigue. Sirarat Sarntivijai DOID:1526 @@ -694901,9 +694589,7 @@ Use: Orphanet:435 Label: Ito hypomelanosis - Pemphigus is a group of chronic autoimmune skin diseases characterised by blisters formation on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, of which paraneoplastic pemphigus is extremely rare. [ Orphanet:63455 ] Pemphigus is a group of rare autoimmune diseases that cause blistering of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals).This conditioncan occur at any age, but often strikes people in middle or older age. Studies have shown that some populations may be at greater risk for certain types of pemphigus. For instance, people of Jewish descent and those from India, Southeast Europe, and the Middle East are at greater risk for pemphigus vulargis, while pemphigus foliaceus is more common in North America, Turkey, and South America. Pemphigus is a chronic disease which is best controlled by early diagnosis and treatment.Treatment includes steroids to reduce inflammation,drugs that suppress the immune system responseand antibiotics to treat associated infections. There are four main types of pemphigus: Pemphigus vulgaris Pemphigus foliaceus IgA pemphigus Paraneoplastic pemphigus - a rare group of blistering autoimmune diseases that affect the skin and mucous membranes. Sirarat Sarntivijai true DOID:9182 @@ -695204,7 +694890,6 @@ Use: Orphanet:435 Label: Ito hypomelanosis Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy. - Photosensitivity refers to various symptoms, diseases and conditions caused or aggravated by exposure to sunlight. Sirarat Sarntivijai http://www.dermnetnz.org/reactions/photosensitivity.html true @@ -695341,7 +695026,6 @@ Use: Orphanet:435 Label: Ito hypomelanosis Dermatitis caused or precipitated by exposure to ultraviolet sunlight, or by mediating phototoxic or photoallergic material in response to ultraviolet sunlight. - a form of allergic contact dermatitis in which the allergen must be activated by light to sensitize the allergic response, and to cause a rash or other systemic effects on subsequent exposure. The second and subsequent exposures produce photoallergic skin conditions which are often eczematous. In rare cases the victims die. Sirarat Sarntivijai DOID:3818 DOID:4407 @@ -695603,7 +695287,6 @@ Use: Orphanet:435 Label: Ito hypomelanosis A mild, self-limited skin disorder that is most commonly seen in children and young adults. It is characterized by an initial large round spot on the chest, abdomen, or back, often referred to as a herald patch, that is usually followed within a week by a distinctive pattern of similar but smaller papules on the torso, arms, and legs. There may also be itching, especially when overheated. - a skin rash. It is benign but may inflict substantial discomfort in certain cases.Classically, it begins with a single "herald patch" lesion, followed in 1 or 2 weeks by a generalized body rash lasting up to 12 weeks, however usually around 6 - 8. Sirarat Sarntivijai DOID:8892 @@ -696985,7 +696668,6 @@ Use: Orphanet:435 Label: Ito hypomelanosis A chronic, inflammatory skin disorder that affects the scalp, central face and skin folds; it is characterized by scaling and itching. - A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss. Sirarat Sarntivijai seborrheic dermatitis (disease) true @@ -697342,7 +697024,6 @@ Use: Orphanet:435 Label: Ito hypomelanosis The degeneration and thinning of the epidermis and dermis. It is usually a manifestation of aging. - The structural changes and the signs and symptoms of chronologically aged skinand those of corticosteroid induced chronicatrophyof theskinare partially very similar.Thinningof epidermis and laxity as well as dryness, purpura and echymoses occur in both conditions. Sirarat Sarntivijai true DOID:2733 @@ -697500,7 +697181,6 @@ Use: Orphanet:435 Label: Ito hypomelanosis Formation of non-necrotizing granulomas in the skin. It may be a manifestation of systemic sarcoidosis or may also arise in isolation. - Sarcoidosis involves the skin in about 25% of patients. The most common lesions are erythema nodosum, plaques, maculopapular eruptions, subcutaneous nodules, and lupus pernio. Treatment is not required, since the lesions usually resolve spontaneously in two to four weeks. Although it may be disfiguring, cutaneous sarcoidosis rarely causes major problems. Sirarat Sarntivijai DOID:13402 ICD10CM:D86.3 @@ -697744,7 +697424,6 @@ Use: Orphanet:435 Label: Ito hypomelanosis Stromal pigmentation such as that in ochronosis results from chronic irritation. The melanin is in the superficial stroma and the basal layer of the corneal epithelium. - stromal pigmentation such as that in ochronosis results from chronic irritation. The melanin is in the superficial stroma and the basal layer of the corneal epithelium. Sirarat Sarntivijai http://www.cybersight.org/bins/volume_page.asp?cid=1-2897-3505-3510 DOID:12311 @@ -698903,7 +698582,6 @@ Use: Orphanet:435 Label: Ito hypomelanosis - Inverted follicular keratosis of the vulvar skin Seborrheic keratosis that arises from follicular structures in the vulva. It is characterized by the presence of prominent squamous eddies. Sirarat Sarntivijai http://www.ncbi.nlm.nih.gov/pubmed/11109167 @@ -699161,7 +698839,6 @@ Use: Orphanet:435 Label: Ito hypomelanosis - Autoimmune pancreatitis (AIP) is a unique form of chronic pancreatitis characterized by high serum IgG4 concentration and a variety of complicating extra-pancreatic lesions. In particular, lachrymal/salivary gland lesions tend to manifest in a highly active AIP disease state. Type 1 autoimmune pancreatitis is a form of autoimmune pancreatitis seen in elderly males (>60 years) and presenting with abdominal pain, steatorrhea, obstructive jaundice and other organ (bile duct, kidneys and retroperitoneum) involvement. It is thought to be due to an immunoglobulin G4 (IgG4)-associated systemic disease. Dani Welter GARD:21076 @@ -699717,7 +699394,6 @@ Use: Orphanet:435 Label: Ito hypomelanosis - A primary systemic vasculitis of small- and some medium-sized vessels. It is characterized by a tropism for kidneys and lungs, positive association with anti-neutrophil cytoplasmic antibodies (ANCA), and a paucity of immunoglobulin deposits in vessel walls. Microscopic polyangiitis (MPA) is an inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs. Sirarat Sarntivijai https://github.com/monarch-initiative/mondo/issues/5261 @@ -700335,10 +700011,6 @@ Use: Orphanet:435 Label: Ito hypomelanosis Noninflammatory degenerative disease of the hip joint which usually appears in late middle or old age. It is characterized by growth or maturational disturbances in the femoral neck and head, as well as acetabular dysplasia. A dominant symptom is pain on weight-bearing or motion. - Osteoarthritis of the hip is also very common and can affect either one or both hips. -You’re most likely to feel pain deep at the front of your groin, but also at the side and front of your thigh, in your buttock or down to your knee (this is called radiated pain). -If you have severe hip osteoarthritis, you may find your affected leg seems a little shorter than the other because of the bone on either side of your joint being crunched up. - Sirarat Sarntivijai http://www.arthritisresearchuk.org/arthritis-information/conditions/osteoarthritis/which-joints-are-affected/hips.aspx true @@ -700999,7 +700671,6 @@ Ankle osteoarthritis is least common and may cause your heel to move to an unusu - Infections with bacteria of the genus ACINETOBACTER. Infections with bacteria of the genus acinetobacter. Sirarat Sarntivijai DOID:3091 @@ -702070,7 +701741,6 @@ Ankle osteoarthritis is least common and may cause your heel to move to an unusu - Excess production of ADRENAL CORTEX HORMONES such as ALDOSTERONE; HYDROCORTISONE; DEHYDROEPIANDROSTERONE; and/or ANDROSTENEDIONE. Hyperadrenal syndromes include CUSHING SYNDROME; HYPERALDOSTERONISM; and VIRILISM. Excess production of adrenal cortex hormones. Sirarat Sarntivijai https://github.com/monarch-initiative/mondo/issues/3376 @@ -702277,7 +701947,6 @@ Ankle osteoarthritis is least common and may cause your heel to move to an unusu - A complication of gastrojejunostomy (BILLROTH II PROCEDURE), a reconstructive GASTROENTEROSTOMY. It is caused by acute (complete) or chronic (intermittent) obstruction of the afferent jejunal loop due to HERNIA, intussusception, kinking, VOLVULUS, etc. It is characterized by PAIN and VOMITING of BILE-stained fluid. A complication of gastrojejunostomy (billroth II procedure), a reconstructive gastroenterostomy. It is caused by acute (complete) or chronic (intermittent) obstruction of the afferent jejunal loop due to hernia, intussusception, kinking, volvulus, etc. It is characterized by pain and vomiting of bile-stained fluid. Sirarat Sarntivijai DOID:8438 @@ -702574,7 +702243,6 @@ Ankle osteoarthritis is least common and may cause your heel to move to an unusu A dilated cardiomyopathy which is associated with consumption of large amounts of alcohol over a period of years. - Disease of CARDIAC MUSCLE resulting from chronic excessive alcohol consumption. Myocardial damage can be caused by: (1) a toxic effect of alcohol; (2) malnutrition in alcoholics such as THIAMINE DEFICIENCY; or (3) toxic effect of additives in alcoholic beverages such as COBALT. This disease is usually manifested by DYSPNEA and palpitations with CARDIOMEGALY and congestive heart failure (HEART FAILURE). Dani Welter DOID:12935 ICD10:I42.6 @@ -702768,7 +702436,6 @@ Ankle osteoarthritis is least common and may cause your heel to move to an unusu A disorder of the liver characterized by the presence of fibrotic scar tissue instead of healthy liver tissue. This condition is attributed to excessive consumption of alcoholic beverages. - FIBROSIS of the hepatic parenchyma due to chronic excess ALCOHOL DRINKING. Dani Welter true CSP:1754-7677 @@ -703448,7 +703115,6 @@ Ankle osteoarthritis is least common and may cause your heel to move to an unusu Anterior ischemic optic neuropathy (AION) is an eye disease characterized by infarction of the optic disk leading to vision loss. It can be nonarteritic (nonarteritic anterior ischemic optic neuropathy or NAION) or arteritic, the latter being associated with giant cell arteritis (GCA; often termed temporal arteritis). Vision loss with both varieties is typically rapid (over minutes, hours, or days) and painless. Symptoms such as a general feeling of being unwell (malaise), muscle aches and pains, headaches over the temple, pain when combing hair, pain in the jaw after chewing, and tenderness over the temporal artery (one of the major arteries of the head) may be present with giant cell arteritis. At exam, visual acuity is reduced and the optic disk is swollen. In both subtypes, visual field examination is often reduced in the inferior and central visual fields. The visual loss is usually permanent, with some recovery possibly occurring within the first weeks or months. The arteritic variety is treated with corticosteroids. Treatment of the nonarteritic variety withaspirinor corticosteroids has not been helpful. - Ischemic injury to the OPTIC NERVE which usually affects the OPTIC DISK (optic neuropathy, anterior ischemic) and less frequently the retrobulbar portion of the nerve (optic neuropathy, posterior ischemic). The injury results from occlusion of arterial blood supply which may result from TEMPORAL ARTERITIS; ATHEROSCLEROSIS; COLLAGEN DISEASES; EMBOLISM; DIABETES MELLITUS; and other conditions. The disease primarily occurs in the sixth decade or later and presents with the sudden onset of painless and usually severe monocular visual loss. Anterior ischemic optic neuropathy also features optic disk edema with microhemorrhages. The optic disk appears normal in posterior ischemic optic neuropathy. (Glaser, Neuro-Ophthalmology, 2nd ed, p135) Dani Welter DOID:12010 GARD:9790 @@ -703642,7 +703308,6 @@ Ankle osteoarthritis is least common and may cause your heel to move to an unusu - Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with ATHEROSCLEROSIS of the aorta and may result from dissection of an AORTIC ANEURYSM or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50) Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with atherosclerosis of the aorta and may result from dissection of an aortic aneurysm or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50) Sirarat Sarntivijai DOID:6712 @@ -704157,7 +703822,6 @@ Ankle osteoarthritis is least common and may cause your heel to move to an unusu - A form of pneumoconiosis caused by inhalation of dust that contains both CARBON and crystalline SILICON DIOXIDE. These foreign matters induce fibrous nodule formation in the lung. Fibrosis of the lung parenchyma caused by inhalation of carbon and silica dust. It manifests as shortness of breath. Sirarat Sarntivijai CSP:2596-4484 @@ -704287,7 +703951,6 @@ Ankle osteoarthritis is least common and may cause your heel to move to an unusu A chronic lung disorder characterized by deposition of coal dust in the lung parenchyma leading to the formation of black nodules and emphysema. It occurs in coal miners. - A diffuse parenchymal lung disease caused by accumulation of inhaled CARBON or coal dust. The disease can progress from asymptomatic anthracosis to massive lung fibrosis. This lung lesion usually occurs in coal MINERS, but can be seen in urban dwellers and tobacco smokers. Sirarat Sarntivijai DOID:10327 ICD10:J60 @@ -706238,7 +705901,6 @@ Ankle osteoarthritis is least common and may cause your heel to move to an unusu - Defective development of the THYROID GLAND. This concept includes thyroid agenesis (aplasia), hypoplasia, or an ectopic gland. Clinical signs usually are those of CONGENITAL HYPOTHYROIDISM. Tissue degeneration and diminished size of the thyroid gland. Sirarat Sarntivijai DOID:2853 @@ -708094,7 +707756,6 @@ Ankle osteoarthritis is least common and may cause your heel to move to an unusu Blockage of the opening between the bladder and the urethra resulting in the reduction or prevention of the urine flow from the bladder into the urethra. - Blocked urine flow through the bladder neck, the narrow internal urethral opening at the base of the URINARY BLADDER. Narrowing or strictures of the URETHRA can be congenital or acquired. It is often observed in males with enlarged PROSTATE glands. Dani Welter true DOID:13948 @@ -708442,7 +708103,6 @@ Ankle osteoarthritis is least common and may cause your heel to move to an unusu - Infections with bacteria of the genus BORRELIA. Infections with bacteria of the genus borrelia. Dani Welter DOID:11730 @@ -709266,7 +708926,6 @@ Ankle osteoarthritis is least common and may cause your heel to move to an unusu - Tumors or cancer of the BRONCHI. Tumors or cancer of the bronchi. Sirarat Sarntivijai bronchial neoplasm (disease) @@ -709667,7 +709326,6 @@ Ankle osteoarthritis is least common and may cause your heel to move to an unusu - A condition of BRONCHOCONSTRICTION resulting from hypersensitive reaction to inhaled dust during the initial processing of cotton, flax, or hemp in the textile industry. Symptoms include wheezing and tightness in the chest. An occupational lung disorder caused by exposure to cotton dust. It occurs more commonly in workers in the textile industry. Signs and symptoms include chest tightness, cough and wheezing. The symptoms tend to get worse at the beginning of the week and subside by the end of the week. Sirarat Sarntivijai DOID:10323 @@ -710174,7 +709832,6 @@ Ankle osteoarthritis is least common and may cause your heel to move to an unusu - Blood clot formation in any part of the CAROTID ARTERIES. This may produce CAROTID STENOSIS or occlusion of the vessel, leading to TRANSIENT ISCHEMIC ATTACK; CEREBRAL INFARCTION; or AMAUROSIS FUGAX. Blood clot formation in any part of the carotid arteries. This may produce carotid stenosis or occlusion of the vessel, leading to transient ischemic attack; cerebral infarction; or amaurosis fugax. Sirarat Sarntivijai true @@ -710498,7 +710155,6 @@ Ankle osteoarthritis is least common and may cause your heel to move to an unusu An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are called cores, seen usually in the center of the muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation. - An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452) Sirarat Sarntivijai DOID:3529 GARD:6014 @@ -713300,7 +712956,6 @@ Ankle osteoarthritis is least common and may cause your heel to move to an unusu A heart disorder in which the pericardial sac becomes thickened and fibrotic, tightening the myocardium and impeding the normal myocardial function. - Inflammation of the PERICARDIUM that is characterized by the fibrous scarring and adhesion of both serous layers, the VISCERAL PERICARDIUM and the PARIETAL PERICARDIUM leading to the loss of pericardial cavity. The thickened pericardium severely restricts cardiac filling. Clinical signs include FATIGUE, muscle wasting, and WEIGHT LOSS. Sirarat Sarntivijai constrictive pericarditis (disease) DOID:11481 @@ -713642,7 +713297,6 @@ Ankle osteoarthritis is least common and may cause your heel to move to an unusu - New blood vessels originating from the corneal veins and extending from the limbus into the adjacent CORNEAL STROMA. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as TRACHOMA, viral interstitial KERATITIS, microbial KERATOCONJUNCTIVITIS, and the immune response elicited by CORNEAL TRANSPLANTATION. New blood vessels originating from the corneal veins and extending from the limbus into the adjacent corneal stroma. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as trachoma, viral interstitial keratitis, microbial keratoconjunctivitis, and the immune response elicited by corneal transplantation. Sirarat Sarntivijai DOID:11382 @@ -714129,7 +713783,6 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 Abnormal malignant growth of the cells that comprise the cranial nerve. - Benign and malignant neoplasms that arise from one or more of the twelve cranial nerves. Sirarat Sarntivijai DOID:2815 ICD9:192.0 @@ -716559,6 +716212,21 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 + + + + + + + + + + + + + + + @@ -716573,7 +716241,6 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 Diabetic angiopathy is a form of angiopathy associated with diabetic complications. - VASCULAR DISEASES that are associated with DIABETES MELLITUS. Dani Welter DOID:10182 DOID:11713 @@ -716865,7 +716532,6 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 - A congenital abnormality characterized by the elevation of the DIAPHRAGM dome. It is the result of a thinned diaphragmatic muscle and injured PHRENIC NERVE, allowing the intra-abdominal viscera to push the diaphragm upward against the LUNG. A congenital or acquired abnormality characterized by elevation of the hemidiaphragm. Sirarat Sarntivijai diaphragmatic eventration (disease) @@ -720311,7 +719977,6 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 - A condition characterized by the thickening of the ventricular ENDOCARDIUM and subendocardium (MYOCARDIUM), seen mostly in children and young adults in the TROPICAL CLIMATE. The fibrous tissue extends from the apex toward and often involves the HEART VALVES causing restrictive blood flow into the respective ventricles (CARDIOMYOPATHY, RESTRICTIVE). A disease characterized by fibrotic thickening of the endocardium, particularly the right and/or left inflow tracts. The disease often involves the atrioventricular valves, leading to valvular regurgitaion. It most commonly occurs in children living within 15 degrees of the equator. Dani Welter DOID:12932 @@ -720583,7 +720248,6 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 - A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. ELECTROENCEPHALOGRAPHY demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the CEREBRAL CORTEX or from subcortical structures (e.g., BRAIN STEM; BASAL GANGLIA). This condition is associated with Russian Spring and Summer encephalitis (see ENCEPHALITIS, TICK BORNE); Rasmussen syndrome (see ENCEPHALITIS); MULTIPLE SCLEROSIS; DIABETES MELLITUS; BRAIN NEOPLASMS; and CEREBROVASCULAR DISORDERS. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319) A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. electroencephalography demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the cerebral cortex or from subcortical structures (e.g., brain stem; basal ganglia). This condition is associated with Russian Spring and Summer encephalitis (see encephalitis, tick borne); Rasmussen syndrome (see encephalitis); multiple sclerosis; diabetes mellitus; brain neoplasms; and cerebrovascular disorders. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319) Sirarat Sarntivijai DOID:11349 @@ -721881,7 +721545,6 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 - Impairment of bile flow in the large BILE DUCTS by mechanical obstruction or stricture due to benign or malignant processes. Impairment of the bile flow caused by an obstruction in the portion of the bile duct system located outside of the liver. Dani Welter DOID:13619 @@ -722537,7 +722200,7 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 - + @@ -722584,7 +722247,7 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 - + @@ -722597,7 +722260,7 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 - + EFO:0000784 @@ -722909,7 +722572,6 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 - A condition occurring in the female offspring of dizygotic twins (TWIN, DIZYGOTIC) in a mixed-sex pregnancy, usually in CATTLE. Freemartinism can occur in other mammals. When placental fusion between the male and the female FETUSES permits the exchange of fetal cells and fetal hormones, TESTICULAR HORMONES from the male fetus can androgenize the female fetus producing a sterile XX/XY chimeric "female"(CHIMERISM). A condition occurring in the female offspring of dizygotic twins (twin, dizygotic) in a mixed-sex pregnancy, usually in cattle. Freemartinism can occur in other mammals. When placental fusion between the male and the female fetuses permits the exchange of fetal cells and fetal hormones, testicular hormones from the male fetus can androgenize the female fetus producing a sterile xx/xy chimeric 'female'(chimerism). Sirarat Sarntivijai @@ -723320,7 +722982,6 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 - Meningitis caused by fungal agents which may occur as OPPORTUNISTIC INFECTIONS or arise in immunocompetent hosts. Meningitis caused by fungal agents which may occur as opportunistic infections or arise in immunocompetent hosts. Sirarat Sarntivijai DOID:11608 @@ -724167,7 +723828,6 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 - Chronic delayed gastric emptying. Gastroparesis may be caused by motor dysfunction or paralysis of STOMACH muscles or may be associated with other systemic diseases such as DIABETES MELLITUS. Paralysis of the muscles of the stomach wall resulting in delayed emptying of the gastric contents into the small intestine. Dani Welter gastroparesis (disease) @@ -726702,7 +726362,6 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 - A condition in which the hepatic venous outflow is obstructed anywhere from the small HEPATIC VEINS to the junction of the INFERIOR VENA CAVA and the RIGHT ATRIUM. Usually the blockage is extrahepatic and caused by blood clots (THROMBUS) or fibrous webs. Parenchymal FIBROSIS is uncommon. A condition in which the hepatic venous outflow is obstructed anywhere from the small hepatic veins to the junction of the inferior vena cava and the right atrium. Usually the blockage is extrahepatic and caused by blood clots (thrombus) or fibrous webs. Parenchymal fibrosis is uncommon. Sirarat Sarntivijai DOID:11512 @@ -727482,7 +727141,6 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 - Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually GAMMA-GLOBULINS. This syndrome often occurs on the legs of women aged 20 to 40 years. Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually gamma-globulins. This syndrome often occurs on the legs of women aged 20 to 40 years. Sirarat Sarntivijai DOID:3325 @@ -727605,7 +727263,6 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 - Disease of the glandular, anterior portion of the pituitary (PITUITARY GLAND, ANTERIOR) resulting in hypersecretion of ADENOHYPOPHYSEAL HORMONES such as GROWTH HORMONE; PROLACTIN; THYROTROPIN; LUTEINIZING HORMONE; FOLLICLE STIMULATING HORMONE ; and ADRENOCORTICOTROPIC HORMONE. Hyperpituitarism usually is caused by a functional ADENOMA. Disease of the glandular, anterior portion of the pituitary (pituitary gland, anterior) resulting in hypersecretion of adenohypophyseal hormones such as growth hormone; prolactin; thyrotropin; luteinizing hormone; follicle stimulating hormone ; and adrenocorticotropic hormone. Hyperpituitarism usually is caused by a functional adenoma. Sirarat Sarntivijai DOID:2444 @@ -727864,7 +727521,6 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 - Condition characterized by splenomegaly, some reduction in the number of circulating blood cells in the presence of a normal or hyperactive bone marrow, and the potential for reversal by splenectomy. Overactive functioning of the spleen, resulting in excessive destruction of blood cells. Sirarat Sarntivijai hypersplenism (disease) @@ -729175,7 +728831,6 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 - A condition of HYPONATREMIA and renal salt loss attributed to overexpansion of BODY FLUIDS resulting from sustained release of ANTIDIURETIC HORMONES which stimulates renal resorption of water. It is characterized by normal KIDNEY function, high urine OSMOLALITY, low serum osmolality, and neurological dysfunction. Etiologies include ADH-producing neoplasms, injuries or diseases involving the HYPOTHALAMUS, the PITUITARY GLAND, and the LUNG. This syndrome can also be drug-induced. A syndrome characterized by abnormal secretion of antidiuretic hormone in conjunction with neoplastic growth occurring anywhere in the body. Sirarat Sarntivijai DOID:3401 @@ -729413,7 +729068,6 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 - MYOCARDIAL INFARCTION in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery. Myocardial infarction in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery. Sirarat Sarntivijai DOID:5850 @@ -729743,7 +729397,6 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 Angina pectoris (or equivalent type of ischemic discomfort) which has recently changed in frequency, duration, intensity, or occurs at rest. - Precordial pain at rest, which may precede a MYOCARDIAL INFARCTION. Sirarat Sarntivijai DOID:8805 ICD10CM:I20.0 @@ -730129,7 +729782,6 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 A rupture in the wall of the small or large intestine due to traumatic or pathologic processes. - Opening or penetration through the wall of the INTESTINES. Sirarat Sarntivijai true DOID:2074 @@ -730661,7 +730313,6 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 - Reduction of CEREBROSPINAL FLUID pressure characterized clinically by HEADACHE which is maximal in an upright posture and occasionally by an abducens nerve palsy (see ABDUCENS NERVE DISEASES), neck stiffness, hearing loss (see DEAFNESS); NAUSEA; and other symptoms. This condition may be spontaneous or secondary to SPINAL PUNCTURE; NEUROSURGICAL PROCEDURES; DEHYDRATION; UREMIA; trauma (see also CRANIOCEREBRAL TRAUMA); and other processes. Chronic hypotension may be associated with subdural hematomas (see HEMATOMA, SUBDURAL) or hygromas. (From Semin Neurol 1996 Mar;16(1):5-10; Adams et al., Principles of Neurology, 6th ed, pp637-8) Reduction of cerebrospinal fluid pressure characterized clinically by headache which is maximal in an upright posture and occasionally by an abducens nerve palsy (see abducens nerve diseases), neck stiffness, hearing loss (see deafness); nausea; and other symptoms. This condition may be spontaneous or secondary to spinal puncture; neurosurgical procedures; dehydration; uremia; trauma (see also craniocerebral trauma); and other processes. Chronic hypotension may be associated with subdural hematomas (see hematoma, subdural) or hygromas. (From Semin Neurol 1996 Mar;16(1):5-10; Adams et al., Principles of Neurology, 6th ed, pp637-8) Sirarat Sarntivijai DOID:4723 @@ -731239,7 +730890,6 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 - Inflammation of the iris characterized by circumcorneal injection, aqueous flare, keratotic precipitates, and constricted and sluggish pupil along with discoloration of the iris. Inflammation of the iris. Sirarat Sarntivijai iritis (disease) @@ -732314,7 +731964,6 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 - Death of cells in the KIDNEY CORTEX, a common final result of various renal injuries including HYPOXIA; ISCHEMIA; and drug toxicity. Death of cells in the kidney cortex, a common final result of various renal injuries including hypoxia; ischemia; and drug toxicity. Sirarat Sarntivijai DOID:2973 @@ -732886,7 +732535,6 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 - A prion disease found exclusively among the Fore linguistic group natives of the highlands of NEW GUINEA. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773) A prion disease found exclusively among the Fore linguistic group natives of the highlands of new guinea. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773) Sirarat Sarntivijai DOID:648 @@ -733577,7 +733225,6 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 A syndrome caused by an infarct in the vertebral or posterior inferior cerebellar artery. It is characterized by sensory defects affecting the same side of the face as the infarct and the opposite side of the trunk as the infarct. Patients experience difficulty swallowing and/or speaking. - INFARCTION of the dorsolateral aspect of MEDULLA OBLONGATA in the BRAIN STEM. It is caused by occlusion of the VERTEBRAL ARTERY and/or the posterior inferior cerebellar artery. Clinical manifestations vary with the size of infarction, but may include loss of pain and temperature sensation in the ipsilateral face and contralateral body below the chin; ipsilateral HORNER SYNDROME; ipsilateral ATAXIA; DYSARTHRIA; VERTIGO; nausea, hiccup; dysphagia; and VOCAL CORD PARALYSIS. (From Adams et al., Principles of Neurology, 6th ed, p801) Sirarat Sarntivijai DOID:3522 ICD9:437.1 @@ -733777,7 +733424,6 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 - A condition that is characterized by inflammation, ulceration, and perforation of the nose and the PALATE with progressive destruction of midline facial structures. This syndrome can be manifested in several diseases including the nasal type of EXTRANODAL NK-T-CELL LYMPHOMA and GRANULOMATOSIS WITH POLYANGIITIS. An aggressive, progressive, and destructive lesion affecting the nasal cavities, paranasal sinuses, and the palate. The vast majority of cases are malignant lymphoproliferations affecting the midline of the face in patients with nasal type extranodal NK/T-cell lymphoma. Sirarat Sarntivijai DOID:9072 @@ -734270,7 +733916,6 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 A disorder involving the aberrant infiltration and aggregation of leukocytes into the vasculature of the body. Leukostasis is typically detected in the brain and lungs of persons with leukemia. It requires substantial ablative modalities to both reduce the number of cells present and to ensure dispersion of the aggregates. - Abnormal intravascular leukocyte aggregation and clumping often seen in leukemia patients. The brain and lungs are the two most commonly affected organs. This acute syndrome requires aggressive cytoreductive modalities including chemotherapy and/or leukophoresis. It is differentiated from LEUKEMIC INFILTRATION which is a neoplastic process where leukemic cells invade organs. Dani Welter DOID:12986 MEDGEN:84394 @@ -735816,7 +735461,6 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 - A condition characterized by a combination of OSTIUM SECUNDUM ATRIAL SEPTAL DEFECT and an acquired MITRAL VALVE STENOSIS. A condition characterized by a combination of ostium secundum atrial septal defect and an acquired mitral valve stenosis. Sirarat Sarntivijai DOID:1998 @@ -736331,7 +735975,6 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 A hole in the macula of the retina. - Perforations through the whole thickness of the retina including the macula as the result of inflammation, trauma, degeneration, etc. The concept includes retinal breaks, tears, dialyses, and holes. Sirarat Sarntivijai DOID:7633 MEDGEN:6176 @@ -736568,7 +736211,6 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 - MYCOBACTERIUM infections of the male reproductive tract (GENITALIA, MALE). Mycobacterium infections of the male reproductive tract (genitalia, male). Sirarat Sarntivijai DOID:8024 @@ -738028,7 +737670,6 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 - An idiopathic syndrome characterized by one or more of the following; recurrent orofacial swelling, relapsing facial paralysis, and fissured tongue (lingua plicata). The onset is usually in childhood and relapses are common. Cheilitis granulomatosa is a monosymptomatic variant of this condition. (Dermatol Clin 1996 Apr;14(2):371-9; Magalini & Magalini, Dictionary of Medical Syndromes, 4th ed, p531) The Melkersson-Rosenthal syndrome is a rare disorder characterized by a triad of recurrent orofacial swelling, relapsing facial paralysis and fissured tongue and onset in childhood or early adolescence. It has an estimated incidence of 8/10,000. The etiology is unknown but hereditary predisposition is suspected. Sirarat Sarntivijai DOID:1761 @@ -738875,7 +738516,7 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 - + @@ -738921,7 +738562,7 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 - + @@ -738936,7 +738577,7 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 - + EFO:0000784 @@ -739357,7 +738998,7 @@ Label: Moebius syndrome - + A benign or low malignant potential cystic epithelial neoplasm composed of cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung. @@ -739385,7 +739026,7 @@ Label: Moebius syndrome - + @@ -739394,7 +739035,7 @@ Label: Moebius syndrome - + NCIT:C2973 @@ -740236,7 +739877,7 @@ Label: Moebius syndrome - + @@ -740299,7 +739940,7 @@ Label: Moebius syndrome - + @@ -740319,7 +739960,7 @@ Label: Moebius syndrome - + EFO:0000784 @@ -740978,7 +740619,6 @@ Label: Moebius syndrome - A condition characterized by a dry, waxy type of swelling (EDEMA) with abnormal deposits of MUCOPOLYSACCHARIDES in the SKIN and other tissues. It is caused by a deficiency of THYROID HORMONES. The skin becomes puffy around the eyes and on the cheeks. The face is dull and expressionless with thickened nose and lips. A condition characterized by severe hypothyroidism that is caused by autoimmune thyroid gland disorders, surgical reduction of thyroid tissue, radiation exposure, and viral infections. Signs and symptoms include generalized fatigue, lethargy, increased body weight, pale, edematous and thickened skin, low blood pressure, constipation and cold intolerance. Dani Welter true @@ -742302,7 +741942,6 @@ Label: Moebius syndrome - A severe gangrenous process occurring predominantly in debilitated and malnourished children, especially in underdeveloped countries. It typically begins as a small vesicle or ulcer on the gingiva that rapidly becomes necrotic and spreads to produce extensive destruction of the buccal and labial mucosa and tissues of the face, which may result in severe disfigurement and even death. Various bacteria have been implicated in the etiology. (Dorland, 27th ed) Noma is a gangrenous disease that causes severe destruction of the soft and osseous tissues of the face. Sirarat Sarntivijai @@ -742667,7 +742306,6 @@ Label: Moebius syndrome - A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see GAIT DISORDERS, NEUROLOGIC), progressive intellectual decline, and URINARY INCONTINENCE. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of CSF including SUBARACHNOID HEMORRHAGE, chronic MENINGITIS, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3) A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see gait disorders, neurologic), progressive intellectual decline, and urinary incontinence. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of csf including subarachnoid hemorrhage, chronic meningitis, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3) Sirarat Sarntivijai https://github.com/monarch-initiative/mondo/issues/4521 @@ -743760,7 +743398,6 @@ Label: Moebius syndrome - Benign and malignant neoplasms that arise from the optic nerve or its sheath. OPTIC NERVE GLIOMA is the most common histologic type. Optic nerve neoplasms tend to cause unilateral visual loss and an afferent pupillary defect and may spread via neural pathways to the brain. Benign and malignant neoplasms which arise from or metastasize to the optic or second cranial nerve which extends from the optic disk of the eye and joins the optic chiasm. Clinical features may include visual loss, proptosis, and local pain. The majority of optic nerve tumors or optic gliomas. Sirarat Sarntivijai DOID:3419 @@ -746776,7 +746413,6 @@ Label: Moebius syndrome An inflammatory disorder of the cilliary body in the uvea that affects healthy, younger individuals who are often asymptomatic. It has a long clinical course with relapses and remissions. Symptoms include mildly decreased vision and floaters. It may be associated with autoimmune disorders. - Form of granulomatous uveitis occurring in the region of the pars plana. This disorder is a common condition with no detectable focal pathology. It causes fibrovascular proliferation at the inferior ora serrata. Dani Welter DOID:12731 GARD:7339 @@ -748430,7 +748066,6 @@ Label: Moebius syndrome - Inflammation of the connective and adipose tissues surrounding the KIDNEY. Inflammation of the connective and adipose tissues surrounding the kidney. Sirarat Sarntivijai DOID:2982 @@ -748916,7 +748551,6 @@ Label: Moebius syndrome - Disease involving the common PERONEAL NERVE or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with PARALYSIS of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the FIBULA is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31) Paralysis of the nerves located in the legs. Sirarat Sarntivijai DOID:6925 @@ -750564,7 +750198,7 @@ Label: Moebius syndrome - + @@ -750617,7 +750251,7 @@ Label: Moebius syndrome - + @@ -750630,7 +750264,7 @@ Label: Moebius syndrome - + EFO:0000784 @@ -751107,8 +750741,7 @@ Label: Moebius syndrome - - A multisystemic disorder characterized by a sensorimotor polyneuropathy (POLYNEUROPATHIES), organomegaly, endocrinopathy, monoclonal gammopathy, and pigmentary skin changes. Other clinical features which may be present include EDEMA; CACHEXIA; microangiopathic glomerulopathy; pulmonary hypertension (HYPERTENSION, PULMONARY); cutaneous necrosis; THROMBOCYTOSIS; and POLYCYTHEMIA. This disorder is frequently associated with osteosclerotic myeloma. (From Adams et al., Principles of Neurology, 6th ed, p1335; Rev Med Interne 1997;18(7):553-62) + POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels. Dani Welter @@ -751157,7 +750790,7 @@ Label: Moebius syndrome - + @@ -751182,7 +750815,7 @@ Label: Moebius syndrome - + PMID:23398538 @@ -753243,7 +752876,6 @@ Label: Moebius syndrome - A condition marked by raised intracranial pressure and characterized clinically by HEADACHES; NAUSEA; PAPILLEDEMA, peripheral constriction of the visual fields, transient visual obscurations, and pulsatile TINNITUS. OBESITY is frequently associated with this condition, which primarily affects women between 20 and 44 years of age. Chronic PAPILLEDEMA may lead to optic nerve injury (see OPTIC NERVE DISEASES) and visual loss (see BLINDNESS). Idiopathic intracranial hypertension is a neurological disorder characterized by isolated increased intracranial pressure manifesting with recurrent and persistent headaches, nausea, vomiting, progressive and transient obstruction of the visual field, papilledema. Visual loss can be irreversible. Sirarat Sarntivijai true @@ -753787,7 +753419,6 @@ Label: Moebius syndrome - A tumor-like inflammatory lesion of the lung that is composed of PLASMA CELLS and fibrous tissue. It is also known as an inflammatory pseudotumor, often with calcification and measuring between 2 and 5 cm in diameter. A tumor-like inflammatory lesion of the lung that is composed of plasma cells and fibrous tissue. It is also known as an inflammatory pseudotumor, often with calcification and measuring between 2 and 5 cm in diameter. Sirarat Sarntivijai DOID:3677 @@ -754096,7 +753727,6 @@ Label : Lung sclerosing hemangioma - The pathologic narrowing of the orifice of the PULMONARY VALVE. This lesion restricts blood outflow from the RIGHT VENTRICLE to the PULMONARY ARTERY. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete. The pathologic narrowing of the orifice of the pulmonary valve. This lesion restricts blood outflow from the right ventricle to the pulmonary artery. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete. Sirarat Sarntivijai DOID:6420 @@ -754394,7 +754024,6 @@ Label : Lung sclerosing hemangioma - Inflammation of the KIDNEY PELVIS and KIDNEY CALICES where urine is collected before discharge, but does not involve the renal parenchyma (the NEPHRONS) where urine is processed. Inflammation of the renal pelvis. Sirarat Sarntivijai DOID:2744 @@ -755510,7 +755139,6 @@ Label : Lung sclerosing hemangioma - A subtype of epilepsy characterized by seizures that are consistently provoked by a certain specific stimulus. Auditory, visual, and somatosensory stimuli as well as the acts of writing, reading, eating, and decision making are examples of events or activities that may induce seizure activity in affected individuals. (From Neurol Clin 1994 Feb;12(1):57-8) Reflex epilepsy refers to epilepsies where recurrent seizures are provoked by a clearly defined extrinsic (most commonly) or intrinsic triggering stimuli such as flashing lights (photosensitive epilepsy), startling noises (startle epilepsy), urinating (micturition induced seizures), exposure to hot-water (hot water epilepsy), eating, reading, and thinking, while being associated with an enduring abnormal predisposition to have such seizures (thereby meeting the conceptual definition of epilepsy). Sirarat Sarntivijai @@ -760718,7 +760346,6 @@ Label : Sea-blue histiocytosis - Hearing loss due to disease of the AUDITORY PATHWAYS (in the CENTRAL NERVOUS SYSTEM) which originate in the COCHLEAR NUCLEI of the PONS and then ascend bilaterally to the MIDBRAIN, the THALAMUS, and then the AUDITORY CORTEX in the TEMPORAL LOBE. Bilateral lesions of the auditory pathways are usually required to cause central hearing loss. Cortical deafness refers to loss of hearing due to bilateral auditory cortex lesions. Unilateral BRAIN STEM lesions involving the cochlear nuclei may result in unilateral hearing loss. Hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII). Sirarat Sarntivijai true @@ -761626,7 +761253,6 @@ Label : Sea-blue histiocytosis - A form of alveolitis or PNEUMONITIS caused by hypersensitivity to high level of inhaled nitrogen oxides, decomposition products of silage. A form of alveolitis or pneumonitis caused by hypersensitivity to high level of inhaled nitrogen oxides, decomposition products of silage. Sirarat Sarntivijai DOID:4374 @@ -762298,7 +761924,6 @@ Label : Sea-blue histiocytosis - A systemic non-inflammatory arteriopathy primarily of middle-aged females characterized by the association of livedo reticularis, multiple thrombotic CEREBRAL INFARCTION; CORONARY DISEASE, and HYPERTENSION. Elevation of antiphospholipid antibody titers (see also ANTIPHOSPHOLIPID SYNDROME), cardiac valvulopathy, ISCHEMIC ATTACK, TRANSIENT; SEIZURES; DEMENTIA; and chronic ischemia of the extremities may also occur. Pathologic examination of affected arteries reveals non-inflammatory adventitial fibrosis, thrombosis, and changes in the media. (From Jablonski, Dictionary of Syndromes & Eponymic Diseases, 2d ed; Adams et al., Principles of Neurology, 6th ed, p861; Arch Neurol 1997 Jan;54(1):53-60) Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa. Dani Welter https://github.com/monarch-initiative/mondo/issues/6166 @@ -763714,7 +763339,6 @@ Label : Sea-blue histiocytosis Self-limited inflammation of the thyroid gland characterized by the presence of multinucleated giant cells. Patients present with neck pain, often associated with fever and dysphagia. The clinical course includes an initial phase of hyperthyroidism, followed by a phase of hypothyroidism, and eventually a return to normal thyroid function. - Spontaneously remitting inflammatory condition of the THYROID GLAND, characterized by FEVER; MUSCLE WEAKNESS; SORE THROAT; severe thyroid PAIN; and an enlarged damaged gland containing GIANT CELLS. The disease frequently follows a viral infection. Sirarat Sarntivijai DOID:7165 ICD10CM:E06.1 @@ -764081,7 +763705,6 @@ Label : Sea-blue histiocytosis - An intracranial or rarely intraspinal suppurative process invading the space between the inner surface of the DURA MATER and the outer surface of the ARACHNOID. An intracranial or rarely intraspinal suppurative process invading the space between the inner surface of the dura mater and the outer surface of the arachnoid. Sirarat Sarntivijai DOID:11389 @@ -764223,7 +763846,6 @@ Label : Sea-blue histiocytosis - An enlarged THYROID GLAND with at least 50% of the gland situated behind the STERNUM. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the TRACHEA leading to deviation, narrowing, and respiratory symptoms. An enlarged thyroid gland with at least 50% of the gland situated behind the sternum. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the trachea leading to deviation, narrowing, and respiratory symptoms. Dani Welter DOID:13200 @@ -764326,7 +763948,6 @@ Label : Sea-blue histiocytosis - A pathological constriction occurring in the region below the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA. An aortic stenosis caused by fibromuscular stenosis or hypertrophic cardiomyopathy. It may be associated with congenital heart defects. Sirarat Sarntivijai DOID:5805 @@ -764649,7 +764270,6 @@ Label : Sea-blue histiocytosis - Acute or chronic inflammation of tissues surrounding the apical portion of a tooth, associated with the collection of pus, resulting from infection following pulp infection through a carious lesion or as a result of an injury causing pulp necrosis. (Dorland, 27th ed) Localized collection of pus in the tissues that enclose the root of a tooth. Sirarat Sarntivijai DOID:2562 @@ -765356,7 +764976,6 @@ Label : Sea-blue histiocytosis - Cardiovascular manifestations of SYPHILIS, an infection of TREPONEMA PALLIDUM. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the AORTA and the AORTIC VALVE. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic ANEURYSM. Cardiovascular manifestations of syphilis, an infection of treponema pallidum. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the aorta and the aortic valve. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic aneurysm. Sirarat Sarntivijai DOID:11582 @@ -766168,7 +765787,6 @@ Label : Sea-blue histiocytosis A progressive neurological disorder characterized by the limitation of movement of the spinal cord within the spine. It is caused by the presence of congenital or acquired tissue attachments in the spinal cord. Signs and symptoms include low back pain, scoliosis, weakness in the legs, and incontinence. - Congenital defects of closure of one or more vertebral arches, which may be associated with malformations of the spinal cord, nerve roots, congenital fibrous bands, lipomas, and congenital cysts. These malformations range from mild (e.g., SPINA BIFIDA OCCULTA) to severe, including rachischisis where there is complete failure of neural tube and spinal cord fusion, resulting in exposure of the spinal cord at the surface. Spinal dysraphism includes all forms of spina bifida. The open form is called SPINA BIFIDA CYSTICA and the closed form is SPINA BIFIDA OCCULTA. (From Joynt, Clinical Neurology, 1992, Ch55, p34) Sirarat Sarntivijai DOID:1089 ICD9:741 @@ -766819,7 +766437,6 @@ Label : Sea-blue histiocytosis - Disease of the TIBIAL NERVE (also referred to as the posterior tibial nerve). The most commonly associated condition is the TARSAL TUNNEL SYNDROME. However, LEG INJURIES; ISCHEMIA; and inflammatory conditions (e.g., COLLAGEN DISEASES) may also affect the nerve. Clinical features include PARALYSIS of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32) Disease of the tibial nerve (also referred to as the posterior tibial nerve). The most commonly associated condition is the tarsal tunnel syndrome. However, leg injuries; ischemia; and inflammatory conditions (e.g., collagen diseases) may also affect the nerve. Clinical features include paralysis of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32) Sirarat Sarntivijai DOID:1187 @@ -767338,7 +766955,6 @@ Label : Dental ankylosis A disease involving the calcareous tooth. - Any disease of the teeth Dani Welter true DOID:1091 @@ -767783,7 +767399,6 @@ Label : Dental ankylosis - A syndrome characterized by recurrent episodes of excruciating pain lasting several seconds or longer in the sensory distribution of the TRIGEMINAL NERVE. Pain may be initiated by stimulation of trigger points on the face, lips, or gums or by movement of facial muscles or chewing. Associated conditions include MULTIPLE SCLEROSIS, vascular anomalies, ANEURYSMS, and neoplasms. (Adams et al., Principles of Neurology, 6th ed, p187) Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain. The pain may result from a blood vessel pressing against the trigeminal nerve (the nerve that carries pain, feeling, and other sensations from the brain to the skin of theface), as a complication of multiple sclerosis, or due to compression of the nerve by a tumor or cyst. In some cases, the cause is unknown. Treatment options include medicines, surgery, and complementary approaches. Dani Welter true @@ -768244,7 +767859,6 @@ Label : Dental ankylosis - Passage of blood from one fetus to another via an arteriovenous communication or other shunt, in a monozygotic twin pregnancy. It results in anemia in one twin and polycythemia in the other. (Lee et al., Wintrobe's Clinical Hematology, 9th ed, p737-8) Twin twin transfusion syndrome (TTTS) is a rare condition seen in twin monochorionic pregnancies, typically developing during the 15-26 week gestation period and usually due to unbalanced intertwin placental anastomoses, where an unequal exchange of blood between twins causes oligohydramnios in one sac and polyhydramnios in the other which can lead to a high perinatal mortality rate and a high rate of disability in survivors if left untreated Dani Welter DOID:13576 @@ -768681,7 +768295,6 @@ Label : Dental ankylosis - Inflammation of the RECTUM and the distal portion of the COLON. Inflammation of the rectum and the distal portion of the colon. Sirarat Sarntivijai DOID:8775 @@ -769783,7 +769396,6 @@ Label : Dental ankylosis A primary or metastatic malignant neoplasm that affects the choroid, ciliary body, or iris. - Tumors or cancer of the UVEA. Sirarat Sarntivijai uveal tumor uveal tumour @@ -771529,7 +771141,6 @@ Label : Dental ankylosis - An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. THIAMINE DEFICIENCY and chronic ALCOHOLISM are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to KORSAKOFF SYNDROME. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3) An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. thiamine deficiency and chronic alcoholism are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to korsakoff syndrome. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3) Sirarat Sarntivijai DOID:2384 @@ -771893,7 +771504,6 @@ Label : Dental ankylosis - A chronic inflammatory condition of the KIDNEY resulting in diffuse renal destruction, a grossly enlarged and nonfunctioning kidney associated with NEPHROLITHIASIS and KIDNEY STONES. Chronic, destructive infection of the kidney characterized by lipid-laden macrophages in the setting of obstruction secondary to infected renal stones, most commonly caused by Proteus or Escherichia coli. Sirarat Sarntivijai DOID:11401 @@ -774629,7 +774239,6 @@ Label : Birt-Hogg-Dubé syndrome - A syndrome associated with injury to the lateral half of the spinal cord. The condition is characterized by the following clinical features (which are found below the level of the lesion): contralateral hemisensory anesthesia to pain and temperature, ipsilateral loss of propioception, and ipsilateral motor paralysis. Tactile sensation is generally spared. (From Adams et al., Principles of Neurology, 6th ed, p162). Brown-Sequard syndrome is a rare neurological condition that results from an injury or damage to one side of the spinal cord. This condition results in weakness or paralysis on one side of the body (hemiparaplegia) and a loss of sensation on the opposite side (hemianesthesia). Brown-Sequard syndrome most commonly occurs in the the thoracic spine (upper and middle back). There are several causes of Brown-Sequard syndrome, including: a spinal cord tumor, trauma (such as a puncture wound to the neck or back), infectious or inflammatory diseases (tuberculosis or multiple sclerosis), and disk herniation. Treatment for this condition varies depending on the underlying cause. Sirarat Sarntivijai DOID:606 @@ -775877,7 +775486,6 @@ see https://github.com/ebispot/efo/issues/1381 - A subtype of MICROSCOPIC COLITIS, characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. Microscopic examination of biopsy samples taken from the COLON show larger-than-normal band of subepithelial COLLAGEN. A type of microscopic colitis of unknown etiology. It is characterized by the presence of collagen deposits in the lamina propria of the colonic mucosa. Patients present with chronic watery diarrhea. Colonoscopy reveals normal-appearing mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples. Dani Welter true @@ -776199,7 +775807,6 @@ see https://github.com/ebispot/efo/issues/1381 - A condition characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. This syndrome was first described in 1980 by Read and associates. Subtypes include COLLAGENOUS COLITIS and LYMPHOCYTIC COLITIS. Both have similar clinical symptoms and are distinguishable only by histology. Inflammation of the colon that is only apparent by microscopic examination. Dani Welter true @@ -776495,7 +776102,6 @@ see https://github.com/ebispot/efo/issues/1381 - An interstitial lung disease of unknown etiology, occurring between 21-80 years of age. It is characterized by a dramatic onset of a "pneumonia-like" illness with cough, fever, malaise, fatigue, and weight loss. Pathological features include prominent interstitial inflammation without collagen fibrosis, diffuse fibroblastic foci, and no microscopic honeycomb change. There is excessive proliferation of granulation tissue within small airways and alveolar ducts. Cryptogenic organizing pneumonia (COP) is a form of idiopathic interstitial pneumonia characterized pathologically by organizing pneumonia (OP) that presents with non-specific flu-like symptoms, as well as cough and dyspnea and where no etiological agent is found. Sirarat Sarntivijai https://github.com/monarch-initiative/mondo/issues/4417 @@ -777297,7 +776903,6 @@ see https://github.com/ebispot/efo/issues/1381 A disorder of the gastrointestinal tract. It is typically caused by the rapid emptying of undigested food from the stomach to the small intestine following gastroesophageal surgery but may be seen secondary to diabetes or the use of certain medications. Clinical signs may be seen 30-60 minutes after eating (early dumping): cramping, nausea, vomiting and diarrhea or they may be seen 1-3 hours later as a result of hyperinsulinemic hypoglycemia (late dumping): sweating, dizziness, confusion and heart palpitations. Untreated, the clinical course progresses to malnutrition and weight loss. - Gastrointestinal symptoms resulting from an absent or nonfunctioning pylorus. Sirarat Sarntivijai DOID:14495 MEDGEN:8501 @@ -777430,7 +777035,6 @@ see https://github.com/ebispot/efo/issues/1381 - Encephalitis caused by neurotropic viruses that are transmitted via the bite of TICKS. In Europe, the diseases are caused by ENCEPHALITIS VIRUSES, TICK-BORNE, which give rise to Russian spring-summer encephalitis, central European encephalitis, louping ill encephalitis, and related disorders. Powassan encephalitis occurs in North America and Russia and is caused by the Powassan virus. ASEPTIC MENINGITIS and rarely encephalitis may complicate COLORADO TICK FEVER which is endemic to mountainous regions of the western United States. (From Joynt, Clinical Neurology, 1996, Ch26, pp14-5) Tick-borne encephalitis is caused by an arbovirus of the Flaviviridae family (tick-borne encephalitis virus, TBEV), transmitted principally by the bite of the Ixodes ricinus tick. The symptomology is biphasic, with the initial phase being associated with a flu-like illness and the second phase (occurring in less than 10% of patients) with symptoms of meningitis or, more rarely, meningoencephalitis. Sirarat Sarntivijai DOID:0050175 @@ -777756,7 +777360,6 @@ see https://github.com/ebispot/efo/issues/1381 An acute or chronic, usually bacterial infectious process affecting the endometrium. It may extend to the myometrium and parametrial tissues. Symptoms include lower abdominal pain, vaginal discharge, and vaginal bleeding. - Inflammation of the ENDOMETRIUM, usually caused by intrauterine infections. Endometritis is the most common cause of postpartum fever. Sirarat Sarntivijai DOID:1002 MEDGEN:41789 @@ -778461,7 +778064,6 @@ see https://github.com/ebispot/efo/issues/1381 - An acute, short-lived, viral disease of infants and young children characterized by a high fever at onset that drops to normal after 3-4 days and the concomitant appearance of a macular or maculopapular rash that appears first on the trunk and then spreads to other areas. It is the sixth of the classical exanthematous diseases and is caused by HHV-6; (HERPESVIRUS 6, HUMAN). (From Dorland, 27th ed) An infection that is due to human herpesvirus (HHV) types 6 or 7; it is characterized by 3-5 days of high fever followed by the acute onset of a rosy, pink, non-pruritic, macular rash that is predominantly on the neck and trunk. Sirarat Sarntivijai DOID:0050495 @@ -780464,7 +780066,6 @@ Label : noise-induced hearing loss A parasitic infection characterized by the infestation with worms, mainly in the intestine. - Infestation with parasitic worms of the helminth class. Sirarat Sarntivijai DOID:883 ICD10:B66 @@ -782911,7 +782512,6 @@ Label : noise-induced hearing loss - A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (CORONARY ARTERY DISEASE), to obstruction by a thrombus (CORONARY THROMBOSIS), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (MYOCARDIAL INFARCTION). A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (coronary artery disease), to obstruction by a thrombus (coronary thrombosis), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (myocardial infarction). Sirarat Sarntivijai true @@ -785373,7 +784973,7 @@ Label : noise-induced hearing loss - + A disease believed to be caused by a viral illness that triggers degeneration of the nerve cells in the substantia nigra. Overall, this degeneration leads to clinical parkinsonism. Parkinsonism following encephalitis, historically seen as a sequella of encephalitis lethargica (Von Economo Encephalitis). The early age of onset, the rapid progression of symptoms followed by stabilization, and the presence of a variety of other neurological disorders (e.g., sociopathic behavior; TICS; MUSCLE SPASMS; oculogyric crises; hyperphagia; and bizarre movements) distinguish this condition from primary PARKINSON DISEASE. Pathologic features include neuronal loss and gliosis concentrated in the MESENCEPHALON; SUBTHALAMUS; and HYPOTHALAMUS. (From Adams et al., Principles of Neurology, 6th ed, p754) Sirarat Sarntivijai @@ -785411,7 +785011,7 @@ Label : noise-induced hearing loss - + @@ -785432,7 +785032,7 @@ Label : noise-induced hearing loss - + Orphanet:97349 @@ -787133,7 +786733,6 @@ Label : noise-induced hearing loss A neoplasm (disease) that involves the sublingual gland. - Neoplasms of the sublingual glands. Dani Welter MEDGEN:21371 MESH:D013362 @@ -788861,7 +788460,6 @@ Label : noise-induced hearing loss An disease or disorder caused by infection with Tunga penetrans. - An infestation with the flea TUNGA PENETRANS causing inflammation, pruritus, and pain, in both humans and other mammals. There is a high incidence of secondary infections such as BACTEREMIA and TETANUS. Dani Welter DOID:0050266 DOID:50266 @@ -790764,7 +790362,6 @@ http://purl.obolibrary.org/obo/MONDO_0004235 An infection of the upper layers of the skin caused by species of streptococcus. Erysipelas results in a fiery red rash with raised edges that can easily be distinguished from the skin around it. The affected skin may be warm to the touch. - an acute, sometimes recurrent disease caused by a bacterial infection, characterized by large raised red patches on the skin. Gautier Koscielny DOID:11330 @@ -792267,7 +791864,6 @@ http://purl.obolibrary.org/obo/MONDO_0004235 An infectious disease caused by parasitic trematodes of the genus Schistosoma that colonize human blood vessels and release eggs that can cause granulomatous reactions leading to acute (swimmer's itch or acute schistosomiasis syndrome) or chronic disease. Depending on where the eggs lodge, manifestations of chronic schistosomiasis can include diarrhea, abdominal pain, loss of appetite, anemia (intestines), hepatosplenism, periportal fibrosis with portal hypertension (liver), urogenital inflammation and scarring, hematuria and dysuria (genitourinary system). Other patients may be asymptomatic. - Infection with flukes (trematodes) of the genus SCHISTOSOMA. Three species produce the most frequent clinical diseases: SCHISTOSOMA HAEMATOBIUM (endemic in Africa and the Middle East),SCHISTOSOMA MANSONI (in Egypt, northern and southern Africa, some West Indies islands, northern 2/3 of South America), and SCHISTOSOMA JAPONICUM (in Japan, China, the Philippines, Celebes, Thailand, Laos). S. mansoni is often seen in Puerto Ricans living in the United States. Gautier Koscielny DOID:1395 GARD:9687 @@ -792482,7 +792078,6 @@ http://purl.obolibrary.org/obo/MONDO_0004235 Any of the several infectious disorders caused by members of streptococcus, a genus of gram positive bacteria belonging to the family Streptococcaceae. Streptococcal infections are classified into Groups A, B, C, D and G. - Infections with bacteria of the genus STREPTOCOCCUS. Gautier Koscielny ICD9:041.00 ICD9:041.09 @@ -793496,7 +793091,6 @@ Pain Agnosia, also known as analgesia, is related to chronic pain requiring intr Acquired myasthenia gravis (MG) is an autoimmune disorder of the neuromuscular junction characterized by fatigable muscle weakness with frequent ocular signs and/or generalized muscle weakness, and occasionally associated with thymoma. - late-onset myasthenia gravis is a form of MG that occurs in individuals aged 50 years or older Dani Welter true GARD:21623 @@ -793705,7 +793299,6 @@ Pain Agnosia, also known as analgesia, is related to chronic pain requiring intr Autosomal dominant form of polycystic kidney disease. - Autosomal dominant polycystic kidney disease (ADPKD) is an inherited condition that causes small, fluid-filled sacs called cysts to develop in the kidneys. Sirarat Sarntivijai DOID:898 @@ -795133,7 +794726,6 @@ Pain Agnosia, also known as analgesia, is related to chronic pain requiring intr - Heavy metal poisoning is the accumulation of heavy metals, in toxic amounts, in the soft tissues of the body. Symptoms and physical findings associated with heavy metal poisoning vary according to the metal accumulated. Many of the heavy metals, such as zinc, copper, chromium, iron and manganese, are essential to body function in very small amounts. But, if these metals accumulate in the body in concentrations sufficient to cause poisoning, then serious damage may occur. The heavy metals most commonly associated with poisoning of humans are lead, mercury, arsenic and cadmium. Heavy metal poisoning may occur as a result of industrial exposure, air or water pollution, foods, medicines, improperly coated food containers, or the ingestion of lead-based paints. Heavy metal poisoning refers to when excessive exposure to a heavy metal affects the normal function of the body. Examples of heavy metals that can cause toxicity include lead, mercury, arsenic, cadmium, and chromium. Exposure may occur through the diet, from medications, from the environment, or in the course of work or play. Heavy metals can enter the body through the skin, or by inhalation or ingestion. Toxicity can result from sudden, severe exposure, or from chronic exposure over time. Symptoms can vary depending on the metal involved, the amount absorbed, and the age of the person exposed. For example, young children are more susceptible to the effects of lead exposure because they absorb more compared with adults and their brains are still developing. Nausea, vomiting, diarrhea, and abdominal pain are common symptoms of acute metal ingestion. Chronic exposure may cause various symptoms resulting from damage to body organs, and may increase the risk of cancer. Treatment depends on the circumstances of the exposure. Sirarat Sarntivijai https://rarediseases.org/rare-diseases/heavy-metal-poisoning/ @@ -796873,7 +796465,6 @@ Pain Agnosia, also known as analgesia, is related to chronic pain requiring intr A neoplasm (disease) that involves the brainstem. - Benign and malignant intra-axial tumors of the MESENCEPHALON; PONS; or MEDULLA OBLONGATA of the BRAIN STEM. Primary and metastatic neoplasms may occur in this location. Clinical features include ATAXIA, cranial neuropathies (see CRANIAL NERVE DISEASES), NAUSEA, hemiparesis (see HEMIPLEGIA), and quadriparesis. Primary brain stem neoplasms are more frequent in children. Histologic subtypes include GLIOMA; HEMANGIOBLASTOMA; GANGLIOGLIOMA; and EPENDYMOMA. Sirarat Sarntivijai MEDGEN:146207 MONDO:0021228 @@ -798322,7 +797913,6 @@ Pain Agnosia, also known as analgesia, is related to chronic pain requiring intr A complication of rheumatic disease that is caused by excessive activation and uncontrolled proliferation of T lymphocytes and well-differentiated macrophages. It is characterized by fever, pancytopenia, liver insufficiency, coagulopathy and neurologic symptoms. - A serious complication of childhood systemic inflammatory disorders that is thought to be caused by excessive activation and proliferation of T-LYMPHOCYTES and MACROPHAGES. It is seen predominantly in children with systemic onset JUVENILE IDIOPATHIC ARTHRITIS. Sirarat Sarntivijai GARD:12124 @@ -798505,7 +798095,6 @@ Pain Agnosia, also known as analgesia, is related to chronic pain requiring intr Malakoplakia is a chronic multisystem granulomatous inflammatory disease characterized by the presence of single or multiple soft plaques on various organs of the body. - The formation of soft patches on the mucous membrane of a hollow organ, such as the urogenital tract or digestive tract. Sirarat Sarntivijai GARD:6960 MEDGEN:44257 @@ -799608,7 +799197,6 @@ Pain Agnosia, also known as analgesia, is related to chronic pain requiring intr A rare form of myositis that affects only the orbital muscles. - Inflammation of the extraocular muscle of the eye. It is characterized by swelling which can lead to ischemia, fibrosis, or ORBITAL PSEUDOTUMOR. Sirarat Sarntivijai https://github.com/monarch-initiative/mondo/issues/7257 @@ -801194,7 +800782,6 @@ Pain Agnosia, also known as analgesia, is related to chronic pain requiring intr - An adverse drug interaction characterized by altered mental status, autonomic dysfunction, and neuromuscular abnormalities. It is most frequently caused by use of both serotonin reuptake inhibitors and monoamine oxidase inhibitors, leading to excess serotonin availability in the CNS at the serotonin 1A receptor. Serotoninergic syndrome is characterized by an excess of serotonin in the central nervous system, associated with the use of various agents, including selective serotonin reuptake inhibitors (SSRIs). Sirarat Sarntivijai GARD:18828 @@ -801959,7 +801546,6 @@ Pain Agnosia, also known as analgesia, is related to chronic pain requiring intr - A rare disorder consisting of microangiopathy of brain, retina, and inner ear ARTERIOLES. It is characterized by the clinical triad of encephalopathy, BRANCH RETINAL ARTERY OCCLUSION and VERTIGO/hearing loss. Susac syndrome (SS) is a rare disorder characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL). It is presumably due to autoimmune-mediated occlusions of microvessels in the CNS, the retina, and the inner ear. Sirarat Sarntivijai GARD:7713 @@ -804370,7 +803956,7 @@ It is caused by a number of types of infection such as bacteria, viruses, parasi - + Various physiological or molecular disturbances that impair ENDOPLASMIC RETICULUM function. It triggers many responses, including UNFOLDED PROTEIN RESPONSE, which may lead to APOPTOSIS; and AUTOPHAGY. Gautier Koscielny MeSH:D059865 @@ -804403,7 +803989,6 @@ It is caused by a number of types of infection such as bacteria, viruses, parasi - Inflammation of the epicondyles. Inflammation of the lateral epicondyle. Gautier Koscielny DOID:14087 @@ -804608,7 +804193,6 @@ It is caused by a number of types of infection such as bacteria, viruses, parasi An overwhelming, irrational, and persistent fear of traveling in an aircraft. - Fear of flying is a fear of being on an airplane (aeroplane), or other flying vehicle, such as a helicopter, while in flight. It is also referred to as flying phobia, flight phobia, aviophobia or aerophobia (although the last also means a fear of drafts or of fresh air). Gautier Koscielny DOID:605 MEDGEN:83369 @@ -805677,7 +805261,6 @@ It is caused by a number of types of infection such as bacteria, viruses, parasi A specific phobia that involves an irrational fear of contracting a disease. - Nosophobia is the irrational fear of contracting a disease, a type of specific phobia. Primary fears of this kind are fear of contracting pulmonary tuberculosis, venereal diseases, cancer, and heart diseases. Gautier Koscielny DOID:0060048 MEDGEN:637105 @@ -805776,7 +805359,7 @@ It is caused by a number of types of infection such as bacteria, viruses, parasi - + A disturbance in the prooxidant-antioxidant balance in favor of the former, leading to potential damage. Indicators of oxidative stress include damaged DNA bases, protein oxidation products, and lipid peroxidation products (Sies, Oxidative Stress, 1991, pxv-xvi). Gautier Koscielny MeSH:D018384 @@ -805881,7 +805464,6 @@ It is caused by a number of types of infection such as bacteria, viruses, parasi - A pathological anxiety characterized by fear or anxiety triggered by a specific stimulus or situation. An anxiety disorder characterized by an intense, irrational fear of an object, activity, or situation. The individual seeks to avoid the object, activity, or situation. In adults, the individual recognizes that the fear is excessive or unreasonable. Gautier Koscielny true @@ -806189,7 +805771,6 @@ It is caused by a number of types of infection such as bacteria, viruses, parasi An anxiety disorder characterized by recurrent excessive distress due to fear of separation from the home or from major attachment figures; the distress is developmentally inappropriate and causes impairment in social, academic, or other areas of functioning. - Separation anxiety disorder (SAD), is an anxiety disorder in which an individual experiences excessive anxiety regarding separation from home or from people to whom the individual has a strong emotional attachment (e.g. a parent, caregiver, significant other or siblings). Gautier Koscielny DOID:10685 MEDGEN:1999 @@ -806312,7 +805893,6 @@ It is caused by a number of types of infection such as bacteria, viruses, parasi An anxiety disorder characterized by an intense, irrational fear of one or more social or performance situations in which the individual believes that he or she will be scrutinized by others. Exposure to social situations immediately provokes an anxiety response. In adults, the social phobia is recognized as excessive or unreasonable. - Social anxiety disorder (SAD), also known as social phobia, is an anxiety disorder characterized by a significant amount of fear in one or more social situations causing considerable distress and impaired ability to function in at least some parts of daily life. Gautier Koscielny true DOID:11257 @@ -806432,7 +806012,6 @@ It is caused by a number of types of infection such as bacteria, viruses, parasi - A specific phobia is any kind of anxiety disorder that amounts to an unreasonable or irrational fear related to exposure to specific objects or situations. As a result, the affected person tends to actively avoid direct contact with the objects or situations and, in severe cases, any mention or depiction of them. The fear can, in fact, be disabling to their daily lives. An anxiety disorder characterized by an intense, irrational fear cued by the presence or anticipation of a specific object or situation. Exposure to the phobic stimulus immediately provokes an anxiety response. In adults, the specific phobia is recognized as excessive or unreasonable. Gautier Koscielny true @@ -808917,7 +808496,7 @@ It is caused by a number of types of infection such as bacteria, viruses, parasi - + @@ -808965,7 +808544,7 @@ It is caused by a number of types of infection such as bacteria, viruses, parasi - + @@ -808974,7 +808553,7 @@ It is caused by a number of types of infection such as bacteria, viruses, parasi - + NCIT:C3457 @@ -811982,7 +811561,7 @@ It is caused by a number of types of infection such as bacteria, viruses, parasi - + @@ -812050,7 +811629,7 @@ It is caused by a number of types of infection such as bacteria, viruses, parasi - + @@ -812063,7 +811642,7 @@ It is caused by a number of types of infection such as bacteria, viruses, parasi - + NCIT:C36077 @@ -815436,7 +815015,6 @@ It is caused by a number of types of infection such as bacteria, viruses, parasi - A type of 3MC syndrome which is that has material basis in homozygous mutation in the COLEC11 gene on chromosome 2p25. Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene. Gautier Koscielny DOID:0060576 @@ -815639,7 +815217,6 @@ It is caused by a number of types of infection such as bacteria, viruses, parasi - A type of 3MC syndrome which is that has material basis in homozygous mutation in the MASP1 gene on chromosome 3q27. Any 3MC syndrome in which the cause of the disease is a mutation in the MASP1 gene. Gautier Koscielny DOID:0060575 @@ -815828,7 +815405,6 @@ It is caused by a number of types of infection such as bacteria, viruses, parasi A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland. - Subnormal concentration of adrenocorticotropic hormone (ACTH) resulting in decreased secretion of cortisol by the adrenal gland. Gautier Koscielny congenital isolated adrenocorticotropic hormone deficiency (disease) DOID:0080150 @@ -816054,7 +815630,6 @@ It is caused by a number of types of infection such as bacteria, viruses, parasi - A rare disorder caused by mutation in the AMACR gene. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. A rare disorder caused by mutation in the AMACR gene. Racemization is the prerequisite to beta-oxidation for branched chain fatty acids and bile acids. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. AMACR deficiency rarely presents as liver disease in infancy. Gautier Koscielny @@ -816235,7 +815810,6 @@ It is caused by a number of types of infection such as bacteria, viruses, parasi Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms. - Deficiency of the aminoacylase-1 enzyme Gautier Koscielny https://github.com/monarch-initiative/mondo/issues/4985 @@ -818044,7 +817618,6 @@ It is caused by a number of types of infection such as bacteria, viruses, parasi - A chronic disorder marked by hardening and thickening of the skin. Scleroderma can be localized or it can affect the entire body (systemic). Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc). Gautier Koscielny scleroderma (disease) @@ -821085,7 +820658,6 @@ label: chronic childhood arthritis A group of acute infections caused by herpes simplex virus type 1 or type 2 that is characterized by the development of one or more small fluid-filled vesicles with a raised erythematous base on the skin or mucous membrane. It occurs as a primary infection or recurs due to a reactivation of a latent infection. (Dorland, 27th ed.) - A viral infectious disease that results_in_formation_of lesions, located_in mouth, located_in face, located_in genitalia, or located_in hands, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which are transmitted_by direct contact with an active lesion or body fluid of an infected person. [ url:http://en.wikipedia.org/wiki/Herpes_simplex url:http://www.aad.org/public/publications/pamphlets/viral_herpes_simplex.html ] true DOID:8566 ICD10CM:B00 @@ -821423,7 +820995,6 @@ label: chronic childhood arthritis A highly contagious viral infection caused by the measles virus. Symptoms appear 8-12 days after exposure and include a rash, cough, fever and muscle pains that can last 4-7 days. Measles vaccines are available to provide prophylaxis, usually combined with mumps and rubella vaccines (MMR). - A viral infectious disease that results_in infection located_in skin, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom fever, has_symptom cough, has_symptom coryza, has_symptom conjunctivitis, and has_symptom maculopapular, erythematous rash. [ url:http://en.wikipedia.org/wiki/Measles ] true DOID:8622 ICD10CM:B05 @@ -823129,7 +822700,6 @@ see https://github.com/ebispot/efo/issues/1381 Inflammation of renal tissue. - Inflammation of renal tissue. [ NCIt:P378 ] true DOID:10952 ICD10:N05 diff --git a/src/ontology/efo-edit.owl b/src/ontology/efo-edit.owl index d7580426..f292126d 100644 --- a/src/ontology/efo-edit.owl +++ b/src/ontology/efo-edit.owl @@ -267681,7 +267681,7 @@ AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001886 "Gautier Koscielny") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001886 "MeSH:D059865") AnnotationAssertion(oboInOwl:hasExactSynonym efo:EFO_1001886 "ER stress") AnnotationAssertion(rdfs:label efo:EFO_1001886 "Endoplasmic Reticulum Stress") -SubClassOf(efo:EFO_1001886 obo:GO_0044237) +SubClassOf(efo:EFO_1001886 obo:GO_0008152) # Class: efo:EFO_1001887 (epicondylitis) @@ -267917,7 +267917,7 @@ AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001905 "Gautier Koscielny") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001905 "MeSH:D018384") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001905 "MedDRA:10080562") AnnotationAssertion(rdfs:label efo:EFO_1001905 "oxidative stress") -SubClassOf(efo:EFO_1001905 obo:GO_0044237) +SubClassOf(efo:EFO_1001905 obo:GO_0008152) # Class: efo:EFO_1001906 (panic disorder with agoraphobia) diff --git a/src/ontology/imports/chebi_import.owl b/src/ontology/imports/chebi_import.owl index bd33f3c1..d60eceec 100644 --- a/src/ontology/imports/chebi_import.owl +++ b/src/ontology/imports/chebi_import.owl @@ -165,7 +165,6 @@ CHEBI:102718 CHEBI:3717 CHEBI:41638 - Beilstein:3568352 CAS:85721-33-1 DrugBank:DB00537 Drug_Central:659 @@ -203,14 +202,8 @@ - Beilstein:3568352 - Beilstein - - - - - ciprofloxacin - ChEMBL + CAS:85721-33-1 + ChemIDplus @@ -268,12 +261,6 @@ ChemIDplus - - - - CAS:85721-33-1 - ChemIDplus - @@ -281,6 +268,12 @@ ChemIDplus + + + + CAS:85721-33-1 + KEGG COMPOUND + @@ -288,12 +281,6 @@ ChemIDplus - - - - CAS:85721-33-1 - KEGG COMPOUND - @@ -331,6 +318,12 @@ Ciprofloxacin KEGG_COMPOUND + + + + ciprofloxacin + ChEMBL + @@ -348,7 +341,6 @@ 319.13322 CCn1cc(C(O)=O)c(=O)c2cc(F)c(cc12)N1CCNCC1 CHEBI:7629 - Beilstein:567897 CAS:70458-96-7 DrugBank:DB01059 Drug_Central:1967 @@ -385,12 +377,6 @@ norfloxacin - - - - Beilstein:567897 - Beilstein - @@ -534,7 +520,6 @@ C19H16O4 308.333 308.10486 - Beilstein:1293536 CAS:81-81-2 DrugBank:DB00682 FooDB:FDB022750 @@ -613,24 +598,6 @@ warfarin - - - - rac-3-(alpha-phenyl-beta-acetylethyl)-4-hydroxycoumarin - ChemIDplus - - - - - rac-4-hydroxy-3-(3-oxo-1-phenylbutyl)coumarin - ChEBI - - - - - rac-warfarin - ChEBI - @@ -665,12 +632,6 @@ WHO_MedNet - - - - Beilstein:1293536 - Beilstein - @@ -1008,6 +969,24 @@ rac-3-(alpha-acetonylbenzyl)-4-hydroxycoumarin NIST_Chemistry_WebBook + + + + rac-3-(alpha-phenyl-beta-acetylethyl)-4-hydroxycoumarin + ChemIDplus + + + + + rac-4-hydroxy-3-(3-oxo-1-phenylbutyl)coumarin + ChEBI + + + + + rac-warfarin + ChEBI + @@ -1179,7 +1158,6 @@ 414.16133 COc1ccc(cc1)[C@@H]1Sc2ccccc2N(CCN(C)C)C(=O)[C@@H]1OC(C)=O CHEBI:4602 - Beilstein:3573079 CAS:42399-41-7 DrugBank:DB00343 Drug_Central:897 @@ -1215,12 +1193,6 @@ diltiazem - - - - Beilstein:3573079 - Beilstein - @@ -1733,7 +1705,6 @@ 104.04734 CCC(O)C(O)=O CHEBI:675746 - Beilstein:878248 CAS:600-15-7 HMDB:HMDB0000008 KEGG:C05984 @@ -1753,12 +1724,6 @@ 2-hydroxybutyric acid - - - - Beilstein:878248 - Beilstein - @@ -1847,7 +1812,6 @@ 146.09814 146.02262 OC(CCC([O-])=O)C([O-])=O - Beilstein:5736650 MetaCyc:2-HYDROXYGLUTARIC_ACID Reaxys:5736650 2-hydroxypentanedioate @@ -1857,12 +1821,6 @@ 2-hydroxyglutarate(2-) - - - - Beilstein:5736650 - Beilstein - @@ -1899,7 +1857,6 @@ 281.27186 CCCCCCCC\C=C/CCCCCCCC(N)=O CHEBI:42271 - Beilstein:1726539 CAS:301-02-0 HMDB:HMDB0002117 LIPID_MAPS_instance:LMFA08010004 @@ -1925,12 +1882,6 @@ oleamide - - - - Beilstein:1726539 - Beilstein - @@ -2216,7 +2167,6 @@ 131.11006 131.04622 NC(=O)NCCC([O-])=O - Beilstein:3663255 Gmelin:675229 Reaxys:3663255 3-(carbamoylamino)propanoate @@ -2231,12 +2181,6 @@ N-carbamoyl-beta-alaninate - - - - Beilstein:3663255 - Beilstein - @@ -2311,7 +2255,6 @@ CHEBI:190461 CHEBI:47396 CHEBI:4760 - Beilstein:7387333 CAS:154598-52-4 DrugBank:DB00625 Drug_Central:989 @@ -2338,12 +2281,6 @@ efavirenz - - - - Beilstein:7387333 - Beilstein - @@ -2502,7 +2439,6 @@ 211.21610 211.06333 [O-][N+](=O)c1ccc-2c(Cc3ccccc-23)c1 - Beilstein:1877983 CAS:607-57-8 KEGG:C10923 LINCS:LSM-37230 @@ -2519,12 +2455,6 @@ 2-nitrofluorene - - - - Beilstein:1877983 - Beilstein - @@ -4526,7 +4456,6 @@ 101.08070 101.02442 CC(=O)CC([O-])=O - Beilstein:4128534 CAS:141-81-1 KEGG:C00164 MetaCyc:3-KETOBUTYRATE @@ -4542,12 +4471,6 @@ acetoacetate - - - - Beilstein:4128534 - Beilstein - @@ -5574,7 +5497,7 @@ A 2,3,4-trihydroxybutanoate that is the conjugate base of threonic acid. - 0 + -1 C4H7O5 135.096 135.02935 @@ -5672,7 +5595,6 @@ CHEBI:22158 CHEBI:2383 CHEBI:40533 - Beilstein:505984 CAS:75-07-0 Gmelin:779 HMDB:HMDB0000990 @@ -5716,12 +5638,6 @@ acetaldehyde - - - - Beilstein:505984 - Beilstein - @@ -5953,7 +5869,6 @@ CHEBI:22182 CHEBI:2398 CHEBI:40571 - Beilstein:635680 CAS:67-64-1 Gmelin:1466 HMDB:HMDB0001659 @@ -5988,12 +5903,6 @@ acetone - - - - Beilstein:635680 - Beilstein - @@ -6170,7 +6079,6 @@ CHEBI:23212 CHEBI:3665 CHEBI:41524 - Beilstein:1736748 CAS:62-49-7 DrugBank:DB00122 Drug_Central:3097 @@ -6222,12 +6130,6 @@ choline - - - - Beilstein:1736748 - Beilstein - @@ -6468,7 +6370,6 @@ CC(=O)C([O-])=O CHEBI:14987 CHEBI:26462 - Beilstein:3587721 CAS:57-60-3 Gmelin:2502 KEGG:C00022 @@ -6493,12 +6394,6 @@ pyruvate - - - - Beilstein:3587721 - Beilstein - @@ -6628,7 +6523,6 @@ CHEBI:2890 CHEBI:40705 CHEBI:71414 - Beilstein:779271 CAS:50-78-2 DrugBank:DB00945 Drug_Central:74 @@ -6683,12 +6577,6 @@ acetylsalicylic acid - - - - Beilstein:779271 - Beilstein - @@ -6970,7 +6858,6 @@ CHEBI:22169 CHEBI:2387 CHEBI:40486 - Beilstein:506007 CAS:64-19-7 Drug_Central:4211 Gmelin:1380 @@ -7018,12 +6905,6 @@ acetic acid - - - - Beilstein:506007 - Beilstein - @@ -7253,7 +7134,6 @@ CC(\C=C\C1=C(C)CCCC1(C)C)=C/C=C/C(C)=C/C(O)=O CHEBI:45376 CHEBI:8815 - Beilstein:2057223 CAS:302-79-4 DrugBank:DB00755 Drug_Central:2722 @@ -7395,12 +7275,6 @@ all-trans-retinoic acid - - - - Beilstein:2057223 - Beilstein - @@ -8493,7 +8367,6 @@ CHEBI:44701 CHEBI:44819 CHEBI:5585 - Beilstein:3587155 CAS:7732-18-5 Gmelin:117 HMDB:HMDB0002111 @@ -8525,12 +8398,6 @@ water - - - - Beilstein:3587155 - Beilstein - @@ -9048,7 +8915,6 @@ CHEBI:22249 CHEBI:2359 CHEBI:40938 - Beilstein:73010 CAS:56-65-5 DrugBank:DB00171 Drug_Central:91 @@ -9072,18 +8938,6 @@ ATP - - - - H4atp - IUPAC - - - - - Beilstein:73010 - Beilstein - @@ -9145,6 +8999,12 @@ Adenosine triphosphate ChemIDplus + + + + H4atp + IUPAC + @@ -9165,7 +9025,6 @@ CHEBI:24368 CHEBI:42964 CHEBI:5460 - Beilstein:635782 CAS:56-40-6 DrugBank:DB00145 Drug_Central:1319 @@ -9249,126 +9108,6 @@ glycine - - - - Beilstein:635782 - Beilstein - - - - - CAS:56-40-6 - ChemIDplus - - - - - CAS:56-40-6 - KEGG COMPOUND - - - - - CAS:56-40-6 - NIST Chemistry WebBook - - - - - Drug_Central:1319 - DrugCentral - - - - - Gmelin:1808 - Gmelin - - - - - PMID:10930630 - Europe PMC - - - - - PMID:11019925 - Europe PMC - - - - - PMID:11174716 - Europe PMC - - - - - PMID:11542461 - Europe PMC - - - - - PMID:11806864 - Europe PMC - - - - - PMID:12631515 - Europe PMC - - - - - PMID:12754315 - Europe PMC - - - - - PMID:12770151 - Europe PMC - - - - - PMID:12921899 - Europe PMC - - - - - PMID:15331688 - Europe PMC - - - - - PMID:15388434 - Europe PMC - - - - - PMID:15710237 - Europe PMC - - - - - PMID:16105183 - Europe PMC - - - - - PMID:16151895 - Europe PMC - @@ -9683,6 +9422,120 @@ aminoethanoic acid JCBN + + + + CAS:56-40-6 + ChemIDplus + + + + + CAS:56-40-6 + KEGG COMPOUND + + + + + CAS:56-40-6 + NIST Chemistry WebBook + + + + + Drug_Central:1319 + DrugCentral + + + + + Gmelin:1808 + Gmelin + + + + + PMID:10930630 + Europe PMC + + + + + PMID:11019925 + Europe PMC + + + + + PMID:11174716 + Europe PMC + + + + + PMID:11542461 + Europe PMC + + + + + PMID:11806864 + Europe PMC + + + + + PMID:12631515 + Europe PMC + + + + + PMID:12754315 + Europe PMC + + + + + PMID:12770151 + Europe PMC + + + + + PMID:12921899 + Europe PMC + + + + + PMID:15331688 + Europe PMC + + + + + PMID:15388434 + Europe PMC + + + + + PMID:15710237 + Europe PMC + + + + + PMID:16105183 + Europe PMC + + + + + PMID:16151895 + Europe PMC + @@ -10519,7 +10372,6 @@ CHEBI:11066 CHEBI:13140 CHEBI:18784 - Beilstein:4133558 KEGG:C00149 MetaCyc:MAL Reaxys:4133558 @@ -10531,12 +10383,6 @@ (S)-malate(2-) - - - - Beilstein:4133558 - Beilstein - @@ -10579,7 +10425,6 @@ OC(CC([O-])=O)C([O-])=O CHEBI:14556 CHEBI:25114 - Beilstein:3664410 CAS:149-61-1 Gmelin:327305 KEGG:C00711 @@ -10596,12 +10441,6 @@ malate(2-) - - - - Beilstein:3664410 - Beilstein - @@ -10742,7 +10581,6 @@ CHEBI:45531 CHEBI:45614 CHEBI:9029 - Beilstein:1699442 CAS:107-97-1 Gmelin:2018 HMDB:HMDB0000271 @@ -10781,12 +10619,6 @@ sarcosine - - - - Beilstein:1699442 - ChemIDplus - @@ -11261,7 +11093,6 @@ CHEBI:15263 CHEBI:27126 CHEBI:9733 - Beilstein:1734787 CAS:1184-78-7 Gmelin:1839 HMDB:HMDB0000925 @@ -11293,12 +11124,6 @@ trimethylamine N-oxide - - - - Beilstein:1734787 - Beilstein - @@ -11596,7 +11421,6 @@ CHEBI:29889 CHEBI:35978 CHEBI:44952 - Beilstein:607489 CAS:57-10-3 DrugBank:DB03796 Gmelin:190200 @@ -11650,12 +11474,6 @@ hexadecanoic acid - - - - Beilstein:607489 - Beilstein - @@ -11926,7 +11744,6 @@ CHEBI:41871 CHEBI:49933 CHEBI:75987 - Beilstein:2215169 Beilstein:6060047 CAS:59-92-7 COMe:MOL000169 @@ -11978,12 +11795,6 @@ L-dopa - - - - Beilstein:2215169 - Beilstein - @@ -12229,7 +12040,6 @@ CHEBI:14139 CHEBI:23701 CHEBI:4504 - Beilstein:1730800 CAS:75-09-2 Gmelin:1302 HMDB:HMDB0031548 @@ -12260,12 +12070,6 @@ dichloromethane - - - - Beilstein:1730800 - Beilstein - @@ -12555,7 +12359,6 @@ CHEBI:22608 CHEBI:2799 CHEBI:40501 - Beilstein:1913991 CAS:506-32-1 DrugBank:DB04557 Gmelin:58972 @@ -12589,12 +12392,6 @@ arachidonic acid - - - - Beilstein:1913991 - Beilstein - @@ -13223,7 +13020,6 @@ CHEBI:25966 CHEBI:43543 CHEBI:8071 - Beilstein:969616 CAS:108-95-2 DrugBank:DB03255 Drug_Central:4266 @@ -13267,12 +13063,6 @@ phenol - - - - Beilstein:969616 - Beilstein - @@ -13559,7 +13349,6 @@ CHEBI:26852 CHEBI:45877 CHEBI:9406 - Beilstein:1751215 CAS:107-35-7 DrugBank:DB01956 Drug_Central:4486 @@ -13631,12 +13420,6 @@ taurine - - - - Beilstein:1751215 - Beilstein - @@ -14020,7 +13803,6 @@ CHEBI:20511 CHEBI:42107 CHEBI:921 - Beilstein:112496 Beilstein:1851498 CAS:504-07-4 HMDB:HMDB0000076 @@ -14049,12 +13831,6 @@ 5,6-dihydrouracil - - - - Beilstein:112496 - Beilstein - @@ -14316,7 +14092,6 @@ CHEBI:22672 CHEBI:2916 CHEBI:49479 - Beilstein:612020 CAS:1912-24-9 DrugBank:DB07392 HMDB:HMDB0041830 @@ -14346,12 +14121,6 @@ atrazine - - - - Beilstein:612020 - Beilstein - @@ -14481,7 +14250,6 @@ CHEBI:44319 CHEBI:7559 AGR:IND607088605 - Beilstein:109591 CAS:59-67-6 Chemspider:913 DrugBank:DB00627 @@ -14595,12 +14363,6 @@ AGR:IND607088605 Europe PMC - - - - Beilstein:109591 - Beilstein - @@ -15188,7 +14950,6 @@ CHEBI:22884 CHEBI:3108 CHEBI:41236 - Beilstein:86838 CAS:58-85-5 COMe:MOL000144 Chemspider:149962 @@ -15282,12 +15043,6 @@ biotin - - - - Beilstein:86838 - Beilstein - @@ -15785,7 +15540,6 @@ CHEBI:48505 CHEBI:57591 CHEBI:8841 - Beilstein:1720524 CAS:488-81-3 Gmelin:82894 HMDB:HMDB0000508 @@ -15816,12 +15570,6 @@ ribitol - - - - Beilstein:1720524 - ChemIDplus - @@ -15977,7 +15725,6 @@ CHEBI:12848 CHEBI:26705 CHEBI:42793 - Beilstein:1723975 CAS:17989-41-2 KEGG:C00093 KNApSAcK:C00007288 @@ -16006,12 +15753,6 @@ sn-glycerol 3-phosphate - - - - Beilstein:1723975 - Beilstein - @@ -16142,7 +15883,6 @@ CHEBI:20624 CHEBI:2116 CHEBI:44943 - Beilstein:82131 CAS:149-87-1 PMID:17439666 PMID:22770225 @@ -16164,12 +15904,6 @@ 5-oxoproline - - - - Beilstein:82131 - Beilstein - @@ -16394,7 +16128,6 @@ CHEBI:40786 CHEBI:40826 CHEBI:47222 - Beilstein:54612 CAS:61-19-8 COMe:MOL000174 DrugBank:DB00131 @@ -16447,12 +16180,6 @@ adenosine 5'-monophosphate - - - - Beilstein:54612 - Beilstein - @@ -16981,7 +16708,6 @@ CHEBI:23204 CHEBI:3659 CHEBI:41564 - Beilstein:2060565 CAS:57-88-5 DrugBank:DB04540 Gmelin:550297 @@ -17017,12 +16743,6 @@ cholesterol - - - - Beilstein:2060565 - Beilstein - @@ -17185,7 +16905,6 @@ [O-]C(=O)c1ccccc1 CHEBI:13879 CHEBI:22717 - Beilstein:1862486 CAS:766-76-7 Gmelin:2945 HMDB:HMDB0001870 @@ -17206,12 +16925,6 @@ benzoate - - - - Beilstein:1862486 - Beilstein - @@ -17315,7 +17028,6 @@ CHEBI:15135 CHEBI:45687 CHEBI:9335 - Beilstein:3648446 CAS:14808-79-8 Gmelin:2120 HMDB:HMDB0001448 @@ -17375,12 +17087,6 @@ sulfate - - - - Beilstein:3648446 - Beilstein - @@ -17705,7 +17411,6 @@ CHEBI:25664 CHEBI:44741 CHEBI:7741 - Beilstein:1726542 CAS:112-80-1 DrugBank:DB04224 Drug_Central:3400 @@ -17751,12 +17456,6 @@ oleic acid - - - - Beilstein:1726542 - Beilstein - @@ -17981,7 +17680,6 @@ CHEBI:27218 CHEBI:46379 CHEBI:9888 - Beilstein:635724 CAS:57-13-6 DrugBank:DB03904 Drug_Central:4264 @@ -18018,12 +17716,6 @@ urea - - - - Beilstein:635724 - Beilstein - @@ -18185,7 +17877,6 @@ CHEBI:24443 CHEBI:42948 CHEBI:5563 - Beilstein:147911 CAS:73-40-5 DrugBank:DB02377 Gmelin:431879 @@ -18211,12 +17902,6 @@ guanine - - - - Beilstein:147911 - Beilstein - @@ -18330,7 +18015,6 @@ CHEBI:42377 CHEBI:44594 CHEBI:4879 - Beilstein:1718733 CAS:64-17-5 DrugBank:DB00898 Drug_Central:1076 @@ -18439,12 +18123,6 @@ ethanol - - - - Beilstein:1718733 - Beilstein - @@ -19037,7 +18715,6 @@ CHEBI:24637 CHEBI:44812 CHEBI:5586 - Beilstein:3587191 CAS:7722-84-1 Drug_Central:3281 Gmelin:509 @@ -19112,12 +18789,6 @@ hydrogen peroxide - - - - Beilstein:3587191 - Beilstein - @@ -19527,7 +19198,6 @@ CHEBI:26472 CHEBI:45280 CHEBI:8696 - Beilstein:317313 CAS:117-39-5 DrugBank:DB04216 Drug_Central:3514 @@ -19576,12 +19246,6 @@ quercetin - - - - Beilstein:317313 - Beilstein - @@ -20747,7 +20411,6 @@ CHEBI:20223 CHEBI:23210 CHEBI:41494 - Beilstein:2822009 CAS:81-25-4 DrugBank:DB02659 Drug_Central:3096 @@ -20773,12 +20436,6 @@ cholic acid - - - - Beilstein:2822009 - ChemIDplus - @@ -20936,7 +20593,6 @@ CHEBI:207585 CHEBI:26741 CHEBI:9224 - Beilstein:1727294 Beilstein:4676153 CAS:123-78-4 DrugBank:DB03203 @@ -20976,12 +20632,6 @@ sphingosine - - - - Beilstein:1727294 - Beilstein - @@ -21188,7 +20838,6 @@ CHEBI:24802 CHEBI:5905 BPDB:1106 - Beilstein:143358 CAS:87-51-4 DrugBank:DB07950 Gmelin:143197 @@ -21216,12 +20865,6 @@ indole-3-acetic acid - - - - Beilstein:143358 - Beilstein - @@ -21554,7 +21197,6 @@ CHEBI:13748 CHEBI:22277 CHEBI:2539 - Beilstein:635807 CAS:302-72-7 Drug_Central:4306 Gmelin:2449 @@ -21577,12 +21219,6 @@ alanine - - - - Beilstein:635807 - Beilstein - @@ -21758,7 +21394,6 @@ CHEBI:21235 CHEBI:42927 CHEBI:6185 - Beilstein:1725413 CAS:74-79-3 DrugBank:DB00125 Drug_Central:1549 @@ -21819,12 +21454,6 @@ L-arginine - - - - Beilstein:1725413 - ChemIDplus - @@ -22124,7 +21753,6 @@ CHEBI:23963 CHEBI:42475 CHEBI:4864 - Beilstein:1914275 CAS:50-28-2 Chemspider:5554 DrugBank:DB00783 @@ -22168,12 +21796,6 @@ 17beta-estradiol - - - - Beilstein:1914275 - Beilstein - @@ -22392,7 +22014,6 @@ CHEBI:25469 CHEBI:44619 CHEBI:7472 - Beilstein:1421310 CAS:91-20-3 Gmelin:3347 HMDB:HMDB0029751 @@ -22426,12 +22047,6 @@ naphthalene - - - - Beilstein:1421310 - Beilstein - @@ -22598,7 +22213,6 @@ CHEBI:27359 AGR:IND605478333 BPDB:1629 - Beilstein:616241 CAS:1637-39-4 CAS:32771-64-5 KEGG:C00371 @@ -22644,12 +22258,6 @@ AGR:IND605478333 Europe PMC - - - - Beilstein:616241 - Beilstein - @@ -22852,7 +22460,6 @@ CHEBI:21090 CHEBI:42262 CHEBI:4245 - Beilstein:1721403 CAS:312-84-5 DrugBank:DB03929 ECMDB:ECMDB03406 @@ -22892,12 +22499,6 @@ D-serine - - - - Beilstein:1721403 - Beilstein - @@ -23095,7 +22696,6 @@ CHEBI:23011 CHEBI:3283 CHEBI:48829 - Beilstein:1900390 CAS:124-38-9 Drug_Central:4256 Gmelin:989 @@ -23150,12 +22750,6 @@ carbon dioxide - - - - Beilstein:1900390 - Beilstein - @@ -23478,7 +23072,6 @@ CHEBI:21714 CHEBI:5153 CHEBI:7279 - Beilstein:1725218 CAS:4289-98-9 DrugBank:DB04464 HMDB:HMDB0001015 @@ -23499,12 +23092,6 @@ N-formyl-L-methionine - - - - Beilstein:1725218 - Beilstein - @@ -23632,7 +23219,6 @@ CHEBI:26737 CHEBI:549953 CHEBI:9221 - Beilstein:1724230 CAS:764-22-7 HMDB:HMDB0000269 KEGG:C00836 @@ -23664,12 +23250,6 @@ sphinganine - - - - Beilstein:1724230 - Beilstein - @@ -23965,7 +23545,6 @@ CHEBI:15257 CHEBI:27099 CHEBI:9686 - Beilstein:1736782 CAS:79-01-6 Drug_Central:3628 Gmelin:184631 @@ -24008,12 +23587,6 @@ trichloroethene - - - - Beilstein:1736782 - ChemIDplus - @@ -24366,7 +23939,6 @@ CHEBI:26733 CHEBI:45647 CHEBI:9218 - Beilstein:1698591 CAS:124-20-9 DrugBank:DB03566 Gmelin:454510 @@ -24398,12 +23970,6 @@ spermidine - - - - Beilstein:1698591 - ChemIDplus - @@ -24537,7 +24103,6 @@ CHEBI:15301 CHEBI:27277 CHEBI:46315 - Beilstein:6504377 DrugBank:DB08711 KEGG:C06672 PDBeChem:VNL @@ -24551,12 +24116,6 @@ vanillate - - - - Beilstein:6504377 - Beilstein - @@ -24936,7 +24495,6 @@ CHEBI:26418 CHEBI:44529 CHEBI:8663 - Beilstein:137110 CAS:89-00-9 DrugBank:DB01796 Gmelin:201344 @@ -24960,12 +24518,6 @@ quinolinic acid - - - - Beilstein:137110 - Beilstein - @@ -25068,7 +24620,6 @@ CHEBI:22034 CHEBI:45495 CHEBI:8945 - Beilstein:99188 CAS:979-92-0 DrugBank:DB01752 Gmelin:692100 @@ -25123,12 +24674,6 @@ S-adenosyl-L-homocysteine - - - - Beilstein:99188 - Beilstein - @@ -25412,7 +24957,6 @@ CHEBI:12449 CHEBI:21599 CHEBI:7186 - Beilstein:1704093 CAS:3025-95-4 Gmelin:1317687 KEGG:C01073 @@ -25426,12 +24970,6 @@ N-acetyl-beta-alanine - - - - Beilstein:1704093 - Beilstein - @@ -25617,7 +25155,6 @@ CHEBI:46391 CHEBI:46460 CHEBI:9893 - Beilstein:754904 CAS:58-96-8 DrugBank:DB02745 ECMDB:ECMDB00296 @@ -25650,12 +25187,6 @@ uridine - - - - Beilstein:754904 - Beilstein - @@ -25797,7 +25328,6 @@ CHEBI:22236 CHEBI:2470 CHEBI:40579 - Beilstein:608603 CAS:73-24-5 DrugBank:DB00173 Drug_Central:89 @@ -25830,12 +25360,6 @@ adenine - - - - Beilstein:608603 - Beilstein - @@ -25982,7 +25506,6 @@ CHEBI:22703 CHEBI:3025 CHEBI:41187 - Beilstein:969212 CAS:71-43-2 Gmelin:1671 HMDB:HMDB0001505 @@ -26031,12 +25554,6 @@ benzene - - - - Beilstein:969212 - Beilstein - @@ -26316,7 +25833,6 @@ CHEBI:23244 CHEBI:3709 BPDB:1069 - Beilstein:1071571 CAS:14371-10-9 HMDB:HMDB0003441 KEGG:C00903 @@ -26358,12 +25874,6 @@ (E)-cinnamaldehyde - - - - Beilstein:1071571 - ChemIDplus - @@ -26943,7 +26453,6 @@ CHEBI:11440 CHEBI:19350 CHEBI:909 - Beilstein:742467 CAS:120-83-2 Gmelin:261170 HMDB:HMDB0004811 @@ -26960,12 +26469,6 @@ 2,4-dichlorophenol - - - - Beilstein:742467 - Beilstein - @@ -27046,7 +26549,6 @@ CHEBI:25720 CHEBI:44781 CHEBI:7787 - Beilstein:383901 CAS:65-86-1 DrugBank:DB02262 Drug_Central:3402 @@ -27079,12 +26581,6 @@ orotic acid - - - - Beilstein:383901 - Beilstein - @@ -27230,7 +26726,6 @@ CCC(=O)C([O-])=O CHEBI:11636 CHEBI:19741 - Beilstein:3601760 Gmelin:899148 HMDB:HMDB0000005 KEGG:C00109 @@ -27248,12 +26743,6 @@ 2-oxobutanoate - - - - Beilstein:3601760 - Beilstein - @@ -27835,7 +27324,6 @@ [O-]C(=O)CCC(=O)C([O-])=O CHEBI:11638 CHEBI:19748 - Beilstein:3664503 CAS:64-15-3 Gmelin:602479 KEGG:C00026 @@ -27859,12 +27347,6 @@ 2-oxoglutarate(2-) - - - - Beilstein:3664503 - Beilstein - @@ -27981,7 +27463,6 @@ CHEBI:14590 CHEBI:25229 CHEBI:6829 - Beilstein:636185 CAS:59-51-8 Gmelin:3117 KEGG:C01733 @@ -28010,12 +27491,6 @@ methionine - - - - Beilstein:636185 - Beilstein - @@ -28465,7 +27940,6 @@ CHEBI:20043 CHEBI:391 CHEBI:43804 - Beilstein:1769194 CAS:503-49-1 DrugBank:DB04377 Drug_Central:1670 @@ -28497,12 +27971,6 @@ 3-hydroxy-3-methylglutaric acid - - - - Beilstein:1769194 - Beilstein - @@ -28652,7 +28120,6 @@ CHEBI:24077 CHEBI:337763 CHEBI:5142 - Beilstein:1209228 CAS:50-00-0 DrugBank:DB03843 Drug_Central:3244 @@ -28693,12 +28160,6 @@ formaldehyde - - - - Beilstein:1209228 - Beilstein - @@ -29133,7 +28594,6 @@ CHEBI:20318 CHEBI:40483 BPDB:2298 - Beilstein:906818 CAS:56-12-2 DrugBank:DB02530 Drug_Central:1262 @@ -29173,12 +28633,6 @@ gamma-aminobutyric acid - - - - Beilstein:906818 - Beilstein - @@ -29761,7 +29215,6 @@ CHEBI:14966 CHEBI:26370 CHEBI:8619 - Beilstein:52571 CAS:2238-90-6 HMDB:HMDB0000648 KEGG:C01747 @@ -29790,12 +29243,6 @@ psychosine - - - - Beilstein:52571 - Beilstein - @@ -29935,7 +29382,6 @@ CHEBI:24421 CHEBI:42767 CHEBI:5509 - Beilstein:741891 CAS:298-12-4 DrugBank:DB04343 Gmelin:25752 @@ -29966,12 +29412,6 @@ glyoxylic acid - - - - Beilstein:741891 - Beilstein - @@ -30113,7 +29553,6 @@ CHEBI:15100 CHEBI:23767 CHEBI:9222 - Beilstein:6780476 CAS:19794-97-9 FooDB:FDB022594 HMDB:HMDB0001383 @@ -30149,12 +29588,6 @@ sphinganine 1-phosphate - - - - Beilstein:6780476 - Beilstein - @@ -30339,7 +29772,6 @@ CHEBI:21050 CHEBI:44192 CHEBI:6686 - Beilstein:1721898 CAS:69-65-8 DrugBank:DB00742 Drug_Central:935 @@ -30389,12 +29821,6 @@ D-mannitol - - - - Beilstein:1721898 - Beilstein - @@ -30656,7 +30082,6 @@ CHEBI:26597 CHEBI:45521 CHEBI:9006 - Beilstein:774890 CAS:69-72-7 DrugBank:DB00936 Drug_Central:2416 @@ -30691,12 +30116,6 @@ salicylic acid - - - - Beilstein:774890 - Beilstein - @@ -30849,7 +30268,6 @@ CHEBI:23404 CHEBI:3909 CHEBI:41678 - Beilstein:907175 CAS:57-00-1 Chemspider:566 DrugBank:DB00148 @@ -30910,12 +30328,6 @@ creatine - - - - Beilstein:907175 - Beilstein - @@ -31241,7 +30653,6 @@ CHEBI:13999 CHEBI:23321 CHEBI:42563 - Beilstein:1884707 CAS:126-44-3 Gmelin:4239 KEGG:C00158 @@ -31261,12 +30672,6 @@ citrate(3-) - - - - Beilstein:1884707 - Beilstein - @@ -31562,7 +30967,6 @@ CHEBI:12389 CHEBI:22821 CHEBI:41050 - Beilstein:906793 CAS:107-95-9 DrugBank:DB03107 Gmelin:49614 @@ -31604,12 +31008,6 @@ beta-alanine - - - - Beilstein:906793 - Beilstein - @@ -31812,7 +31210,6 @@ CHEBI:14026 CHEBI:23397 CHEBI:3896 - Beilstein:1356062 CAS:53-06-5 HMDB:HMDB0002802 KEGG:C00762 @@ -31846,12 +31243,6 @@ cortisone - - - - Beilstein:1356062 - Beilstein - @@ -32037,7 +31428,6 @@ CHEBI:13898 CHEBI:22870 CHEBI:3099 - Beilstein:74376 CAS:635-65-4 Gmelin:411033 HMDB:HMDB0000054 @@ -32068,12 +31458,6 @@ bilirubin IXalpha - - - - Beilstein:74376 - Beilstein - @@ -32350,7 +31734,6 @@ CHEBI:25730 CHEBI:44583 CHEBI:7811 - Beilstein:385686 CAS:144-62-7 DrugBank:DB03902 Gmelin:2208 @@ -32378,12 +31761,6 @@ oxalic acid - - - - Beilstein:385686 - Beilstein - @@ -32566,7 +31943,6 @@ CHEBI:45214 CHEBI:529204 CHEBI:8843 - Beilstein:97831 CAS:83-88-5 Chemspider:431981 DrugBank:DB00140 @@ -32663,12 +32039,6 @@ riboflavin - - - - Beilstein:97831 - Beilstein - @@ -33187,7 +32557,6 @@ CHEBI:439 CHEBI:45786 CHEBI:8453 - Beilstein:1915950 CAS:57-83-0 DrugBank:DB00396 Drug_Central:2279 @@ -33223,12 +32592,6 @@ progesterone - - - - Beilstein:1915950 - Beilstein - @@ -33477,7 +32840,6 @@ CHEBI:22875 CHEBI:3102 CHEBI:41124 - Beilstein:74351 CAS:114-25-0 DrugBank:DB02073 HMDB:HMDB0001008 @@ -33499,12 +32861,6 @@ biliverdin - - - - Beilstein:74351 - Beilstein - @@ -33718,7 +33074,6 @@ 148.03717 OC(CCC(O)=O)C(O)=O CHEBI:1160 - Beilstein:1723805 CAS:2889-31-8 HMDB:HMDB0059655 KEGG:C02630 @@ -33734,12 +33089,6 @@ 2-hydroxyglutaric acid - - - - Beilstein:1723805 - Beilstein - @@ -34222,7 +33571,6 @@ 318.25588 [H][C@@]1(CC[C@@]2([H])[C@]3([H])CC[C@]4([H])C[C@H](O)CC[C@]4(C)[C@@]3([H])CC[C@]12C)C(C)=O CHEBI:88767 - Beilstein:3211364 CAS:128-20-1 Chemspider:29132 Drug_Central:997 @@ -34263,12 +33611,6 @@ 3alpha-hydroxy-5beta-pregnan-20-one - - - - Beilstein:3211364 - Beilstein - @@ -34651,7 +33993,6 @@ CHEBI:13947 CHEBI:20047 CHEBI:23038 - Beilstein:1866665 CAS:461-06-3 DrugBank:DB02648 KEGG:C00487 @@ -34670,12 +34011,6 @@ carnitine - - - - Beilstein:1866665 - Beilstein - @@ -34741,7 +34076,6 @@ CHEBI:27339 CHEBI:46522 CHEBI:60939 - Beilstein:1720523 CAS:87-99-0 DrugBank:DB01904 Drug_Central:4604 @@ -34793,12 +34127,6 @@ xylitol - - - - Beilstein:1720523 - ChemIDplus - @@ -35067,7 +34395,6 @@ CHEBI:25521 CHEBI:44258 CHEBI:7556 - Beilstein:383619 CAS:98-92-0 DrugBank:DB02701 Drug_Central:1906 @@ -35187,12 +34514,6 @@ nicotinamide - - - - Beilstein:383619 - Beilstein - @@ -35846,7 +35167,6 @@ CHEBI:14599 CHEBI:25303 CHEBI:6875 - Beilstein:906750 CAS:78-98-8 KEGG:C00546 KNApSAcK:C00007562 @@ -35884,12 +35204,6 @@ methylglyoxal - - - - Beilstein:906750 - Beilstein - @@ -36456,7 +35770,6 @@ CHEBI:43611 CHEBI:47501 CHEBI:5849 - Beilstein:630517 CAS:131-99-7 DrugBank:DB04566 Gmelin:528845 @@ -36487,12 +35800,6 @@ IMP - - - - Beilstein:630517 - Beilstein - @@ -36633,7 +35940,6 @@ CHEBI:45100 CHEBI:45159 CHEBI:6286 - Beilstein:80810 CAS:147-85-3 DrugBank:DB00172 Drug_Central:4125 @@ -36700,12 +36006,6 @@ L-proline - - - - Beilstein:80810 - Beilstein - @@ -37057,7 +36357,6 @@ CHEBI:22849 CHEBI:25452 CHEBI:7052 - Beilstein:1719990 CAS:123-35-3 Gmelin:279258 HMDB:HMDB0038169 @@ -37085,12 +36384,6 @@ beta-myrcene - - - - Beilstein:1719990 - ChemIDplus - @@ -37775,7 +37068,6 @@ CHEBI:11340 CHEBI:19173 CHEBI:790 - Beilstein:2062088 CAS:68-96-2 HMDB:HMDB0000374 KEGG:C01176 @@ -37829,12 +37121,6 @@ 17alpha-hydroxyprogesterone - - - - Beilstein:2062088 - ChemIDplus - @@ -38123,7 +37409,6 @@ CHEBI:12831 CHEBI:25451 CHEBI:43559 - Beilstein:1907329 CAS:87-89-8 DrugBank:DB03106 Drug_Central:1444 @@ -38184,12 +37469,6 @@ myo-inositol - - - - Beilstein:1907329 - Beilstein - @@ -38571,7 +37850,6 @@ CHEBI:14813 CHEBI:26053 CHEBI:8145 - Beilstein:1797096 CAS:67-07-2 Drug_Central:3464 HMDB:HMDB0001511 @@ -38602,12 +37880,6 @@ N-phosphocreatine - - - - Beilstein:1797096 - Beilstein - @@ -38761,7 +38033,6 @@ CHEBI:25419 CHEBI:44202 CHEBI:7001 - Beilstein:93704 CAS:57-27-2 DrugBank:DB00295 Drug_Central:1845 @@ -38810,12 +38081,6 @@ morphine - - - - Beilstein:93704 - Beilstein - @@ -39052,7 +38317,6 @@ CHEBI:14568 CHEBI:25144 CHEBI:6668 - Beilstein:1292747 CAS:69-79-4 DrugBank:DB03323 KEGG:C00208 @@ -39096,12 +38360,6 @@ maltose - - - - Beilstein:1292747 - Beilstein - @@ -39500,7 +38758,6 @@ CHEBI:26883 CHEBI:45798 CHEBI:9461 - Beilstein:1915399 Beilstein:3653705 CAS:58-22-0 DrugBank:DB00624 @@ -39535,12 +38792,6 @@ testosterone - - - - Beilstein:1915399 - Beilstein - @@ -39708,7 +38959,6 @@ CHEBI:25047 CHEBI:42395 CHEBI:6479 - Beilstein:1727101 CAS:60-33-3 Drug_Central:3323 Gmelin:57557 @@ -39761,12 +39011,6 @@ linoleic acid - - - - Beilstein:1727101 - Beilstein - @@ -40051,7 +39295,6 @@ CHEBI:19431 CHEBI:40645 CHEBI:981 - Beilstein:2807677 CAS:53-96-3 KEGG:C02778 LINCS:LSM-37153 @@ -40084,12 +39327,6 @@ 2-acetamidofluorene - - - - Beilstein:2807677 - Beilstein - @@ -40259,7 +39496,6 @@ c1ccc2ncccc2c1 CHEBI:15007 CHEBI:8727 - Beilstein:107477 CAS:91-22-5 Gmelin:27201 HMDB:HMDB0033731 @@ -40279,12 +39515,6 @@ quinoline - - - - Beilstein:107477 - Beilstein - @@ -40378,7 +39608,6 @@ CHEBI:24762 CHEBI:43237 CHEBI:5841 - Beilstein:5811 CAS:68-94-0 DrugBank:DB04076 ECMDB:ECMDB00157 @@ -40412,12 +39641,6 @@ hypoxanthine - - - - Beilstein:5811 - Beilstein - @@ -40564,7 +39787,6 @@ CHEBI:14062 CHEBI:23513 CHEBI:4052 - Beilstein:1728091 CAS:923-32-0 Gmelin:83347 KEGG:C01420 @@ -40588,12 +39810,6 @@ cystine - - - - Beilstein:1728091 - Beilstein - @@ -41009,7 +40225,6 @@ CHEBI:1550 CHEBI:20076 CHEBI:39897 - Beilstein:2086506 CAS:621-37-4 HMDB:HMDB0000440 KEGG:C05593 @@ -41035,12 +40250,6 @@ 3-hydroxyphenylacetic acid - - - - Beilstein:2086506 - Beilstein - @@ -41224,7 +40433,6 @@ CHEBI:1325 CHEBI:19827 CHEBI:41588 - Beilstein:52645 CAS:60-92-4 DrugBank:DB02527 HMDB:HMDB0000058 @@ -41251,12 +40459,6 @@ 3',5'-cyclic AMP - - - - Beilstein:52645 - Beilstein - @@ -41774,7 +40976,6 @@ CHEBI:41781 CHEBI:41811 CHEBI:6207 - Beilstein:1721408 CAS:52-90-4 DrugBank:DB00151 Drug_Central:769 @@ -41812,12 +41013,6 @@ L-cysteine - - - - Beilstein:1721408 - Beilstein - @@ -41983,7 +41178,6 @@ CHEBI:27210 CHEBI:46375 CHEBI:9882 - Beilstein:606623 CAS:66-22-8 DrugBank:DB03419 Gmelin:2896 @@ -42030,12 +41224,6 @@ uracil - - - - Beilstein:606623 - Beilstein - @@ -42267,7 +41455,6 @@ CHEBI:24841 CHEBI:44407 CHEBI:5927 - Beilstein:624889 CAS:58-63-9 Drug_Central:3301 ECMDB:ECMDB00195 @@ -42301,12 +41488,6 @@ inosine - - - - Beilstein:624889 - Beilstein - @@ -43717,7 +42898,6 @@ CHEBI:13911 CHEBI:22889 CHEBI:3116 - Beilstein:1890696 CAS:117-81-7 KEGG:C03690 MetaCyc:BIS2-ETHYLHEXYLPHTHALATE @@ -43754,12 +42934,6 @@ bis(2-ethylhexyl) phthalate - - - - Beilstein:1890696 - Beilstein - @@ -43980,7 +43154,6 @@ CHEBI:24370 CHEBI:27128 CHEBI:3073 - Beilstein:3537113 CAS:107-43-7 Drug_Central:347 Gmelin:26434 @@ -44020,12 +43193,6 @@ glycine betaine - - - - Beilstein:3537113 - Beilstein - @@ -44214,7 +43381,6 @@ CHEBI:21874 CHEBI:40659 CHEBI:7409 - Beilstein:1725438 CAS:692-04-6 Gmelin:747339 HMDB:HMDB0000206 @@ -44241,12 +43407,6 @@ N(6)-acetyl-L-lysine - - - - Beilstein:1725438 - Beilstein - @@ -44371,7 +43531,6 @@ CHEBI:24351 CHEBI:42998 CHEBI:5448 - Beilstein:635685 CAS:56-81-5 Chemspider:733 DrugBank:DB04077 @@ -44455,12 +43614,6 @@ glycerol - - - - Beilstein:635685 - Beilstein - @@ -45247,7 +44400,6 @@ 137.03565 [O-]C(=O)\C=C\c1c[nH]cn1 CHEBI:15298 - Beilstein:5735282 Reaxys:5735282 (2E)-3-(1H-imidazol-4-yl)prop-2-enoate trans-urocanate @@ -45257,12 +44409,6 @@ trans-urocanate - - - - Beilstein:5735282 - Beilstein - @@ -45366,7 +44512,6 @@ CHEBI:21556 CHEBI:7154 CHEBI:90094 - Beilstein:1724849 CAS:1188-21-2 Chemspider:1918 Gmelin:985259 @@ -45392,12 +44537,6 @@ N-acetyl-L-leucine - - - - Beilstein:1724849 - Beilstein - @@ -45517,7 +44656,6 @@ CHEBI:44080 CHEBI:44553 CHEBI:6816 - Beilstein:1098229 CAS:67-56-1 Gmelin:449 HMDB:HMDB0001875 @@ -45561,12 +44699,6 @@ methanol - - - - Beilstein:1098229 - Beilstein - @@ -45978,7 +45110,6 @@ CHEBI:15081 CHEBI:26648 CHEBI:9116 - Beilstein:1721402 CAS:302-84-1 Gmelin:26429 KEGG:C00716 @@ -45996,12 +45127,6 @@ serine - - - - Beilstein:1721402 - Beilstein - @@ -46090,7 +45215,6 @@ CHEBI:19209 CHEBI:3307 CHEBI:46435 - Beilstein:2227647 CAS:32222-06-3 DrugBank:DB00136 Drug_Central:466 @@ -46131,12 +45255,6 @@ calcitriol - - - - Beilstein:2227647 - Beilstein - @@ -46529,7 +45647,6 @@ CHEBI:24330 CHEBI:43097 CHEBI:5434 - Beilstein:1209725 CAS:110-94-1 DrugBank:DB03553 Gmelin:26809 @@ -46555,12 +45672,6 @@ glutaric acid - - - - Beilstein:1209725 - Beilstein - @@ -46821,7 +45932,6 @@ CC(C)CC(=O)C([O-])=O CHEBI:12020 CHEBI:20438 - Beilstein:3904096 KEGG:C00233 Reaxys:3904096 4-methyl-2-oxopentanoate @@ -46832,12 +45942,6 @@ 4-methyl-2-oxopentanoate - - - - Beilstein:3904096 - Beilstein - @@ -46886,7 +45990,6 @@ Oc1ccc(cc1)C([O-])=O CHEBI:12003 CHEBI:20397 - Beilstein:3589159 CAS:456-23-5 Gmelin:326508 KEGG:C00156 @@ -46903,12 +46006,6 @@ 4-hydroxybenzoate - - - - Beilstein:3589159 - Beilstein - @@ -47315,7 +46412,6 @@ CHEBI:12625 CHEBI:21798 CHEBI:7356 - Beilstein:4176501 CAS:14278-49-0 HMDB:HMDB0001276 KEGG:C00612 @@ -47331,12 +46427,6 @@ N(1)-acetylspermidine - - - - Beilstein:4176501 - Beilstein - @@ -47755,7 +46845,6 @@ CCCC([O-])=O CHEBI:13924 CHEBI:22946 - Beilstein:3601060 CAS:461-55-2 Gmelin:324289 KEGG:C00246 @@ -47782,12 +46871,6 @@ butyrate - - - - Beilstein:3601060 - Beilstein - @@ -47929,7 +47012,6 @@ CHEBI:26812 CHEBI:45795 CHEBI:9314 - Beilstein:90825 CAS:57-50-1 DrugBank:DB02772 Drug_Central:4610 @@ -47991,12 +47073,6 @@ sucrose - - - - Beilstein:90825 - Beilstein - @@ -48536,7 +47612,6 @@ CHEBI:24124 CHEBI:42743 CHEBI:5190 - Beilstein:605763 CAS:110-17-8 DrugBank:DB01677 Drug_Central:3229 @@ -48573,12 +47648,6 @@ fumaric acid - - - - Beilstein:605763 - Beilstein - @@ -48821,7 +47890,6 @@ CHEBI:42899 CHEBI:42943 CHEBI:6227 - Beilstein:1723797 CAS:56-85-9 DrugBank:DB00130 Drug_Central:1311 @@ -48867,12 +47935,6 @@ L-glutamine - - - - Beilstein:1723797 - ChemIDplus - @@ -49086,7 +48148,6 @@ CHEBI:19028 CHEBI:39590 CHEBI:609 - Beilstein:2076413 CAS:22059-21-8 DrugBank:DB02085 Gmelin:362607 @@ -49109,12 +48170,6 @@ 1-aminocyclopropanecarboxylic acid - - - - Beilstein:2076413 - Beilstein - @@ -50039,7 +49094,6 @@ CHEBI:12343 CHEBI:46509 Beilstein:5300493 - Beilstein:94012 CAS:59-02-9 Chemspider:14265 DrugBank:DB00163 @@ -50090,12 +49144,6 @@ Beilstein:5300493 Beilstein - - - - Beilstein:94012 - Beilstein - @@ -50519,7 +49567,6 @@ CHEBI:24199 AGR:IND605428769 AGR:IND607289207 - Beilstein:93072 CAS:54-28-4 Chemspider:83708 DrugBank:DB15394 @@ -50608,12 +49655,6 @@ AGR:IND607289207 Europe PMC - - - - Beilstein:93072 - Beilstein - @@ -51018,7 +50059,6 @@ CHEBI:15277 CHEBI:27176 CHEBI:9800 - Beilstein:515881 CAS:55520-40-6 CAS:556-03-6 Gmelin:27744 @@ -51040,12 +50080,6 @@ tyrosine - - - - Beilstein:515881 - Beilstein - @@ -51152,7 +50186,6 @@ CHEBI:25866 CHEBI:45073 CHEBI:7962 - Beilstein:44740 CAS:61-33-6 DrugBank:DB01053 Drug_Central:2082 @@ -51204,12 +50237,6 @@ benzylpenicillin - - - - Beilstein:44740 - Beilstein - @@ -51466,7 +50493,6 @@ NC(CCCNC(N)=O)C(O)=O CHEBI:14002 CHEBI:3730 - Beilstein:1725417 Beilstein:2328251 CAS:627-77-0 PMID:11094453 @@ -51505,12 +50531,6 @@ citrulline - - - - Beilstein:1725417 - Beilstein - @@ -51834,7 +50854,6 @@ CHEBI:14467 CHEBI:24892 CHEBI:6013 - Beilstein:157731 CAS:574-12-9 Gmelin:1224833 KEGG:C00799 @@ -51850,12 +50869,6 @@ isoflavone - - - - Beilstein:157731 - Beilstein - @@ -52304,7 +51317,6 @@ 132.08988 NCCCC(N)C(O)=O CHEBI:7784 - Beilstein:1722296 CAS:616-07-9 Gmelin:847696 KEGG:C01602 @@ -52325,12 +51337,6 @@ ornithine - - - - Beilstein:1722296 - Beilstein - @@ -52434,7 +51440,6 @@ CHEBI:19894 CHEBI:45840 CHEBI:9722 - Beilstein:2710227 CAS:6893-02-3 DrugBank:DB00279 Drug_Central:1585 @@ -52442,7 +51447,6 @@ KEGG:C02465 KEGG:D08128 LINCS:LSM-3991 - MetaCyc:CPD-10813 PDBeChem:T3 PMID:11738632 PMID:15206581 @@ -52455,8 +51459,10 @@ 3,5,3'-Triiodothyronine 3,5,3'TRIIODOTHYRONINE 4-(4-hydroxy-3-iodophenoxy)-3,5-diiodo-L-phenylalanine + L-3,3',5-triiodothyronine L-3,5,3'-Triiodothyronine L-T3 + L-triiodothyronine Liothyronine O-(4-hydroxy-3-iodophenyl)-3,5-diiodo-L-tyrosine T3 @@ -52470,12 +51476,6 @@ 3,3',5-triiodo-L-thyronine - - - - Beilstein:2710227 - Beilstein - @@ -52549,6 +51549,12 @@ 4-(4-hydroxy-3-iodophenoxy)-3,5-diiodo-L-phenylalanine IUPAC + + + + L-3,3',5-triiodothyronine + HMDB + @@ -52561,6 +51567,12 @@ L-T3 ChemIDplus + + + + L-triiodothyronine + HMDB + @@ -52652,7 +51664,6 @@ CHEBI:1671 CHEBI:21690 CHEBI:46352 - Beilstein:1705263 CAS:462-88-4 Gmelin:675230 HMDB:HMDB0000026 @@ -52682,12 +51693,6 @@ N-carbamoyl-beta-alanine - - - - Beilstein:1705263 - Beilstein - @@ -52840,7 +51845,6 @@ C(CCCCCCCC)CCC([O-])=O CHEBI:14187 CHEBI:23863 - Beilstein:3588839 Gmelin:333430 KEGG:C02679 MetaCyc:DODECANOATE @@ -52863,12 +51867,6 @@ dodecanoate - - - - Beilstein:3588839 - Beilstein - @@ -53300,7 +52298,6 @@ CHEBI:14495 CHEBI:1841 CHEBI:20378 - Beilstein:147451 CAS:492-27-3 HMDB:HMDB0000715 KEGG:C01717 @@ -53383,12 +52380,6 @@ kynurenic acid - - - - Beilstein:147451 - Beilstein - @@ -53873,7 +52864,6 @@ [O-]C(=O)Cc1ccccc1 CHEBI:14779 CHEBI:25975 - Beilstein:3539899 Gmelin:327522 MetaCyc:PHENYLACETATE Reaxys:3539899 @@ -53889,12 +52879,6 @@ phenylacetate - - - - Beilstein:3539899 - Beilstein - @@ -53973,7 +52957,6 @@ CHEBI:358848 CHEBI:45145 CHEBI:8668 - Beilstein:234749 CAS:54-47-7 COMe:MOL000108 DrugBank:DB00114 @@ -54008,12 +52991,6 @@ pyridoxal 5'-phosphate - - - - Beilstein:234749 - Beilstein - @@ -54820,7 +53797,6 @@ A racemate composed of equimolar amounts of (R)- and (S)-nicotine. - Beilstein:82108 Beilstein:82111 CAS:22083-74-5 DrugBank:DB00184 @@ -54914,12 +53890,6 @@ nicotine - - - - Beilstein:82108 - Beilstein - @@ -55807,7 +54777,6 @@ 311.29408 311.12297 CN(C)c1nc2n(cnc2c(=O)[nH]1)[C@@H]1O[C@H](CO)[C@@H](O)[C@H]1O - Beilstein:47545 CAS:2140-67-2 HMDB:HMDB0004824 PMID:22770225 @@ -55824,12 +54793,6 @@ N(2),N(2)-dimethylguanosine - - - - Beilstein:47545 - Beilstein - @@ -55906,7 +54869,6 @@ 146.20748 146.11756 C[N+](C)(C)CCCC(O)=O - Beilstein:1765273 HMDB:HMDB0001161 KEGG:C01181 PDBeChem:NM2 @@ -55921,12 +54883,6 @@ 4-(trimethylammonio)butanoic acid - - - - Beilstein:1765273 - Beilstein - @@ -56116,7 +55072,6 @@ 104.10452 104.04734 CC(O)CC(O)=O - Beilstein:773861 CAS:300-85-6 HMDB:HMDB0000357 LIPID_MAPS_instance:LMFA01050005 @@ -56143,12 +55098,6 @@ 3-hydroxybutyric acid - - - - Beilstein:773861 - Beilstein - @@ -56557,7 +55506,6 @@ 450.69420 450.37091 [H][C@@]12CC[C@@]3([H])[C@]4([H])CC[C@]([H])([C@H](C)[C@@H](O)[C@H](O)[C@@H](C)C(C)C)[C@@]4(C)CC[C@]3([H])[C@@]1(C)C[C@@H](O)[C@@H](O)C2 - Beilstein:5097016 KEGG:C15802 KNApSAcK:C00000199 LIPID_MAPS_instance:LMST01030127 @@ -56572,12 +55520,6 @@ 6-deoxocastasterone - - - - Beilstein:5097016 - Beilstein - @@ -56631,7 +55573,6 @@ 418.69540 418.38108 [H][C@@]12CC[C@@]3([H])[C@]4([H])CC[C@]([H])([C@H](C)[C@@H](O)C[C@@H](C)C(C)C)[C@@]4(C)CC[C@]3([H])[C@@]1(C)CC[C@H](O)C2 - Beilstein:7878139 KEGG:C15798 KNApSAcK:C00007277 LIPID_MAPS_instance:LMST01030124 @@ -56645,12 +55586,6 @@ 6-deoxycathasterone - - - - Beilstein:7878139 - Beilstein - @@ -56923,7 +55858,6 @@ 175.13940 175.04807 CC(=O)N[C@@H](CC(O)=O)C(O)=O - Beilstein:1726198 CAS:997-55-7 HMDB:HMDB0000812 KEGG:C01042 @@ -56959,12 +55893,6 @@ N-acetyl-L-aspartic acid - - - - Beilstein:1726198 - ChemIDplus - @@ -57172,7 +56100,6 @@ 191.06161 CSCC[C@H](NC(C)=O)C(O)=O CHEBI:40767 - Beilstein:1725552 CAS:65-82-7 DrugBank:DB01646 HMDB:HMDB0011745 @@ -57206,12 +56133,6 @@ N-acetyl-L-methionine - - - - Beilstein:1725552 - ChemIDplus - @@ -57440,7 +56361,6 @@ 207.22586 207.08954 CC(=O)NC(Cc1ccccc1)C(O)=O - Beilstein:2213851 CAS:2901-75-9 Reaxys:2213851 2-(acetylamino)-3-phenylpropanoic acid @@ -57454,12 +56374,6 @@ N-acetylphenylalanine - - - - Beilstein:2213851 - Beilstein - @@ -57828,7 +56742,6 @@ 174.10824 174.01644 OC(=O)CC(=CC(O)=O)C(O)=O - Beilstein:1725828 CAS:499-12-7 Gmelin:185280 PMID:24702026 @@ -57847,12 +56760,6 @@ aconitic acid - - - - Beilstein:1725828 - Beilstein - @@ -58217,7 +57124,6 @@ 132.11800 132.05349 NC(CC(N)=O)C(O)=O - Beilstein:1723525 CAS:3130-87-8 Gmelin:279043 KEGG:C16438 @@ -58240,12 +57146,6 @@ asparagine - - - - Beilstein:1723525 - Beilstein - @@ -58353,7 +57253,6 @@ 133.10272 133.03751 NC(CC(O)=O)C(O)=O - Beilstein:774618 CAS:617-45-8 Gmelin:185140 KEGG:C16433 @@ -58374,12 +57273,6 @@ aspartic acid - - - - Beilstein:774618 - Beilstein - @@ -59067,7 +57960,6 @@ 399.43704 399.16819 COc1cc2CCC(NC(C)=O)c3cc(=O)c(OC)ccc3-c2c(OC)c1OC - Beilstein:2228812 CAS:54192-66-4 DrugBank:DB01394 HMDB:HMDB0015466 @@ -59083,12 +57975,6 @@ colchicine - - - - Beilstein:2228812 - Beilstein - @@ -59586,7 +58472,6 @@ CC(\C=C\[C@@]1(O)C(C)=CC(=O)CC1(C)C)=C\C(O)=O CHEBI:158341 BPDB:2486 - Beilstein:2130328 Beilstein:4190247 CAS:21293-29-8 HMDB:HMDB0035140 @@ -59617,12 +58502,6 @@ (+)-abscisic acid - - - - Beilstein:2130328 - Beilstein - @@ -60055,7 +58934,6 @@ 117.10660 117.05383 CCN(N=O)C(N)=O - Beilstein:1761174 CAS:759-73-9 KEGG:C19178 PMID:11732210 @@ -60085,12 +58963,6 @@ N-ethyl-N-nitrosourea - - - - Beilstein:1761174 - Beilstein - @@ -60318,10 +59190,10 @@ - 0 + -1 C6H9O7 193.132 - 193.03483 + 193.03538 glucuronate chebi_ontology gluconuronate @@ -60471,7 +59343,6 @@ 225.08619 Nc1nc2n(COCCO)cnc2c(=O)[nH]1 CHEBI:40459 - Beilstein:1219402 CAS:59277-89-3 DrugBank:DB00787 Drug_Central:85 @@ -60500,12 +59371,6 @@ acyclovir - - - - Beilstein:1219402 - Beilstein - @@ -60908,7 +59773,6 @@ 161.04768 OC(=O)c1c[nH]c2ccccc12 CHEBI:49657 - Beilstein:129435 CAS:771-50-6 Gmelin:1875411 HMDB:HMDB0003320 @@ -60926,12 +59790,6 @@ indole-3-carboxylic acid - - - - Beilstein:129435 - Beilstein - @@ -61045,7 +59903,6 @@ C6H13NO2 131.175 131.09463 - Beilstein:1721790 CAS:443-79-8 PMID:17190852 Reaxys:1721790 @@ -61057,12 +59914,6 @@ isoleucine - - - - Beilstein:1721790 - Beilstein - @@ -61369,7 +60220,6 @@ 131.17296 131.09463 CC(C)CC(N)C(O)=O - Beilstein:636005 CAS:328-39-2 Gmelin:50203 KEGG:C16439 @@ -61392,12 +60242,6 @@ leucine - - - - Beilstein:636005 - Beilstein - @@ -61610,7 +60454,6 @@ 146.18764 146.10553 NCCCCC(N)C(O)=O - Beilstein:1616991 CAS:70-54-2 Gmelin:279284 KEGG:C16440 @@ -61629,12 +60472,6 @@ lysine - - - - Beilstein:1616991 - Beilstein - @@ -62244,7 +61081,6 @@ C6H11O4 147.151 147.06628 - Beilstein:4383181 Reaxys:4383181 rac-3,5-dihydroxy-3-methylpentanoate chebi_ontology @@ -62258,12 +61094,6 @@ mevalonate - - - - Beilstein:4383181 - Beilstein - @@ -63173,7 +62003,6 @@ 283.26425 C(CCCCCCCCCC)CCCCCCC(=O)[O-] CHEBI:231588 - Beilstein:3590530 CAS:646-29-7 Gmelin:344065 KEGG:C01530 @@ -63194,12 +62023,6 @@ octadecanoate - - - - Beilstein:3590530 - Beilstein - @@ -63301,7 +62124,6 @@ 143.204 143.10775 C(CCCCCC)C(=O)[O-] - Beilstein:3588079 CAS:74-81-7 Gmelin:329219 PMID:11983812 @@ -63323,12 +62145,6 @@ octanoate - - - - Beilstein:3588079 - Beilstein - @@ -63453,7 +62269,6 @@ 249.09600 249.01673 NCCCC(O)(P(O)(O)=O)P(O)(O)=O - Beilstein:2275403 CAS:66376-36-1 DrugBank:DB00630 Drug_Central:112 @@ -63495,12 +62310,6 @@ alendronic acid - - - - Beilstein:2275403 - Beilstein - @@ -65081,7 +63890,6 @@ 585.60272 585.28574 NCC[C@H](O)C(=O)N[C@@H]1C[C@H](N)[C@@H](O[C@H]2O[C@H](CN)[C@@H](O)[C@H](O)[C@H]2O)[C@H](O)[C@H]1O[C@H]1O[C@H](CO)[C@@H](O)[C@H](N)[C@H]1O - Beilstein:5915117 CAS:37517-28-5 DrugBank:DB00479 Drug_Central:157 @@ -65120,12 +63928,6 @@ amikacin - - - - Beilstein:5915117 - Beilstein - @@ -65521,7 +64323,6 @@ 277.40336 277.18305 CN(C)CCC=C1c2ccccc2CCc2ccccc12 - Beilstein:2217885 CAS:50-48-6 DrugBank:DB00321 Drug_Central:180 @@ -65552,12 +64353,6 @@ amitriptyline - - - - Beilstein:2217885 - Beilstein - @@ -65767,7 +64562,6 @@ 58.44247 57.95862 [Na+].[Cl-] - Beilstein:3534976 CAS:7647-14-5 Gmelin:13673 KEGG:C13563 @@ -65793,12 +64587,6 @@ sodium chloride - - - - Beilstein:3534976 - Beilstein - @@ -65982,7 +64770,6 @@ 365.10454 [H][C@]12SC(C)(C)[C@@H](N1C(=O)[C@H]2NC(=O)[C@H](N)c1ccc(O)cc1)C(O)=O CHEBI:133770 - Beilstein:4274654 CAS:26787-78-0 DrugBank:DB01060 Drug_Central:192 @@ -66036,12 +64823,6 @@ amoxicillin - - - - Beilstein:4274654 - Beilstein - @@ -66360,7 +65141,6 @@ [H][C@]12C[C@@H](O[C@@H]3O[C@H](C)[C@@H](O)[C@H](N)[C@@H]3O)\C=C\C=C\C=C\C=C\C=C\C=C\C=C\[C@H](C)[C@@H](O)[C@@H](C)[C@H](C)OC(=O)C[C@H](O)C[C@H](O)CC[C@@H](O)[C@H](O)C[C@H](O)C[C@](O)(C[C@H](O)[C@H]1C(O)=O)O2 CHEBI:106303 CHEBI:566395 - Beilstein:4645978 CAS:1397-89-3 DrugBank:DB00681 Drug_Central:197 @@ -66391,12 +65171,6 @@ amphotericin B - - - - Beilstein:4645978 - Beilstein - @@ -67060,7 +65834,6 @@ 117.14638 117.07898 CC(C)C(N)C(O)=O - Beilstein:506689 CAS:516-06-3 Gmelin:49877 KEGG:C16436 @@ -67079,12 +65852,6 @@ valine - - - - Beilstein:506689 - Beilstein - @@ -67222,10 +65989,10 @@ - 0 + -1 C5H9O6 165.122 - 165.03991 + 165.04046 rel-(2R,3S,4R)-2,3,4,5-tetrahydroxypentanoate xylonate chebi_ontology @@ -67370,7 +66137,6 @@ ClC(Cl)(Cl)Cl CHEBI:23015 CHEBI:3400 - Beilstein:1098295 CAS:56-23-5 Drug_Central:3067 Gmelin:2347 @@ -67397,12 +66163,6 @@ tetrachloromethane - - - - Beilstein:1098295 - Beilstein - @@ -68077,7 +66837,6 @@ CHEBI:10298 CHEBI:22462 CHEBI:43891 - Beilstein:1727693 CAS:463-40-1 DrugBank:DB00132 Drug_Central:4618 @@ -68115,12 +66874,6 @@ alpha-linolenic acid - - - - Beilstein:1727693 - Beilstein - @@ -68611,7 +67364,6 @@ CHEBI:5140 CHEBI:569217 AGR:IND606960789 - Beilstein:100781 CAS:59-30-3 Chemspider:5815 DrugBank:DB00158 @@ -68698,12 +67450,6 @@ AGR:IND606960789 Europe PMC - - - - Beilstein:100781 - Beilstein - @@ -69126,7 +67872,6 @@ CHEBI:1119 CHEBI:24774 CHEBI:5873 - Beilstein:7795 CAS:30581-88-5 Gmelin:464711 KEGG:C05568 @@ -69146,12 +67891,6 @@ 3-(imidazol-5-yl)lactic acid - - - - Beilstein:7795 - Beilstein - @@ -69382,7 +68121,6 @@ C1CO1 CHEBI:24001 CHEBI:4900 - Beilstein:102378 CAS:75-21-8 Gmelin:676 HMDB:HMDB0031305 @@ -69419,12 +68157,6 @@ oxirane - - - - Beilstein:102378 - Beilstein - @@ -69803,7 +68535,6 @@ CHEBI:24598 CHEBI:43118 CHEBI:5733 - Beilstein:84087 CAS:4998-57-6 Gmelin:3656 KEGG:C00768 @@ -69826,12 +68557,6 @@ histidine - - - - Beilstein:84087 - Beilstein - @@ -70031,7 +68756,6 @@ CHEBI:22306 CHEBI:2563 CHEBI:40919 - Beilstein:3224996 CAS:52-39-1 DrugBank:DB04630 Drug_Central:111 @@ -70055,12 +68779,6 @@ aldosterone - - - - Beilstein:3224996 - ChemIDplus - @@ -70547,7 +69265,6 @@ [H][C@]1(C[C@@H](C)C[C@H](C)C1=O)[C@H](O)CC1CC(=O)NC(=O)C1 CHEBI:23484 CHEBI:4015 - Beilstein:88868 CAS:66-81-9 KEGG:C06685 KEGG:D03625 @@ -70583,12 +69300,6 @@ cycloheximide - - - - Beilstein:88868 - Beilstein - @@ -70755,7 +69466,6 @@ CC[C@@]1(O)C(=O)OCc2c1cc1-c3nc4ccccc4cc3Cn1c2=O CHEBI:22997 CHEBI:3343 - Beilstein:6075662 CAS:7689-03-4 DrugBank:DB04690 KEGG:C01897 @@ -70785,12 +69495,6 @@ camptothecin - - - - Beilstein:6075662 - Beilstein - @@ -71329,7 +70033,6 @@ CCCCCCCCCC([O-])=O CHEBI:125804 CHEBI:23570 - Beilstein:3538146 Gmelin:330643 KEGG:C01571 MetaCyc:CPD-3617 @@ -71353,12 +70056,6 @@ decanoate - - - - Beilstein:3538146 - Beilstein - @@ -71756,7 +70453,6 @@ CHEBI:22982 CHEBI:3295 CHEBI:41472 - Beilstein:17705 CAS:58-08-2 DrugBank:DB00201 Drug_Central:463 @@ -71864,12 +70560,6 @@ caffeine - - - - Beilstein:17705 - Beilstein - @@ -72621,7 +71311,6 @@ COc1cc(OC)c2C(=O)[C@]3(Oc2c1Cl)[C@H](C)CC(=O)C=C3OC CHEBI:24429 CHEBI:5546 - Beilstein:95226 CAS:126-07-8 DrugBank:DB00400 Drug_Central:1331 @@ -72669,12 +71358,6 @@ griseofulvin - - - - Beilstein:95226 - Beilstein - @@ -72940,7 +71623,6 @@ OC(=O)Cc1c[nH]c2ccc(O)cc12 CHEBI:20585 CHEBI:2071 - Beilstein:168797 CAS:54-16-0 HMDB:HMDB0000763 KEGG:C05635 @@ -72962,12 +71644,6 @@ (5-hydroxyindol-3-yl)acetic acid - - - - Beilstein:168797 - Beilstein - @@ -73296,7 +71972,6 @@ NC(Cc1c[nH]c2ccccc12)C(O)=O CHEBI:27163 CHEBI:9769 - Beilstein:86196 CAS:54-12-6 Gmelin:4532 KEGG:C00806 @@ -73322,12 +71997,6 @@ tryptophan - - - - Beilstein:86196 - Beilstein - @@ -73802,7 +72471,6 @@ CHEBI:26894 CHEBI:45729 CHEBI:9474 - Beilstein:2230417 CAS:60-54-8 DrugBank:DB00759 Drug_Central:2611 @@ -73859,12 +72527,6 @@ tetracycline - - - - Beilstein:2230417 - Beilstein - @@ -74119,7 +72781,6 @@ OS(=O)(=O)Oc1ccccc1 CHEBI:25967 CHEBI:8072 - Beilstein:2047161 CAS:937-34-8 HMDB:HMDB0060015 KEGG:C02180 @@ -74136,12 +72797,6 @@ phenyl hydrogen sulfate - - - - Beilstein:2047161 - Beilstein - @@ -74223,8 +72878,6 @@ CHEBI:3801 CHEBI:41642 Beilstein:3621912 - Beilstein:5291037 - Beilstein:91034 CAS:50-36-2 DrugBank:DB00907 Drug_Central:723 @@ -74273,18 +72926,6 @@ Beilstein:3621912 Beilstein - - - - Beilstein:5291037 - Beilstein - - - - - Beilstein:91034 - Beilstein - @@ -75239,7 +73880,6 @@ CHEBI:27276 CHEBI:49941 CHEBI:9931 - Beilstein:3132 CAS:1404-90-6 DrugBank:DB00512 Drug_Central:2807 @@ -75316,12 +73956,6 @@ vancomycin - - - - Beilstein:3132 - Beilstein - @@ -75730,7 +74364,6 @@ NC(Cc1ccccc1)C(O)=O CHEBI:25984 CHEBI:8089 - Beilstein:1910407 CAS:150-30-1 Gmelin:50836 KEGG:C02057 @@ -75752,12 +74385,6 @@ phenylalanine - - - - Beilstein:1910407 - Beilstein - @@ -75975,7 +74602,6 @@ CHEBI:26577 CHEBI:45308 CHEBI:8858 - Beilstein:5723476 CAS:13292-46-1 DrugBank:DB01045 HMDB:HMDB0015179 @@ -76036,12 +74662,6 @@ rifampicin - - - - Beilstein:5723476 - Beilstein - @@ -76353,7 +74973,6 @@ CHEBI:24204 CHEBI:42763 CHEBI:5302 - Beilstein:263823 CAS:446-72-0 Chemspider:4444448 DrugBank:DB01645 @@ -76413,12 +75032,6 @@ genistein - - - - Beilstein:263823 - Beilstein - @@ -76884,7 +75497,6 @@ CHEBI:23857 CHEBI:43162 CHEBI:4673 - Beilstein:1715505 CAS:6217-54-5 DrugBank:DB03756 Drug_Central:4289 @@ -76920,12 +75532,6 @@ all-cis-docosa-4,7,10,13,16,19-hexaenoic acid - - - - Beilstein:1715505 - Beilstein - @@ -77187,7 +75793,6 @@ CHEBI:26940 CHEBI:45950 CHEBI:9523 - Beilstein:13463 CAS:58-55-9 DrugBank:DB00277 Drug_Central:2620 @@ -77279,12 +75884,6 @@ theophylline - - - - Beilstein:13463 - Beilstein - @@ -77790,7 +76389,6 @@ CHEBI:26583 CHEBI:8897 BPDB:587 - Beilstein:99070 CAS:83-79-4 DrugBank:DB11457 FooDB:FDB012837 @@ -77833,12 +76431,6 @@ rotenone - - - - Beilstein:99070 - Beilstein - @@ -78150,7 +76742,6 @@ 126.93591 [O-]C(=O)C(Cl)Cl CHEBI:23694 - Beilstein:3903873 CAS:13425-80-4 Gmelin:200685 MetaCyc:CPD-9674 @@ -78166,12 +76757,6 @@ dichloroacetate - - - - Beilstein:3903873 - ChemIDplus - @@ -78571,7 +77156,6 @@ CHEBI:23801 CHEBI:42138 CHEBI:4612 - Beilstein:506008 CAS:67-68-5 Chemspider:659 DrugBank:DB01093 @@ -78642,12 +77226,6 @@ dimethyl sulfoxide - - - - Beilstein:506008 - Beilstein - @@ -79276,7 +77854,6 @@ NC(CCC(N)=O)C(O)=O CHEBI:24316 CHEBI:5432 - Beilstein:1723795 CAS:585-21-7 CAS:6899-04-3 Gmelin:27318 @@ -79298,12 +77875,6 @@ glutamine - - - - Beilstein:1723795 - Beilstein - @@ -79569,7 +78140,6 @@ CHEBI:22360 CHEBI:2603 BPDB:2154 - Beilstein:139956 CAS:2465-59-0 HMDB:HMDB0000786 KEGG:C07599 @@ -79590,12 +78160,6 @@ alloxanthine - - - - Beilstein:139956 - Beilstein - @@ -79738,7 +78302,6 @@ CHEBI:23901 CHEBI:42328 CHEBI:4764 - Beilstein:1714433 CAS:10417-94-4 DrugBank:DB00159 Drug_Central:3174 @@ -79788,12 +78351,6 @@ all-cis-5,8,11,14,17-icosapentaenoic acid - - - - Beilstein:1714433 - Beilstein - @@ -80501,7 +79058,6 @@ BrCCBr CHEBI:18880 CHEBI:496 - Beilstein:605266 CAS:106-93-4 Gmelin:1913 HMDB:HMDB0060334 @@ -80526,12 +79082,6 @@ 1,2-dibromoethane - - - - Beilstein:605266 - Beilstein - @@ -80653,7 +79203,6 @@ C1CNCCN1 CHEBI:26143 CHEBI:8235 - Beilstein:102555 CAS:110-85-0 CAS:142-88-1 Chemspider:13835459 @@ -80694,12 +79243,6 @@ piperazine - - - - Beilstein:102555 - Beilstein - @@ -80880,7 +79423,6 @@ CHEBI:597286 CHEBI:604323 CHEBI:8719 - Beilstein:91866 CAS:56-54-2 DrugBank:DB00908 Drug_Central:2346 @@ -80934,12 +79476,6 @@ quinidine - - - - Beilstein:91866 - Beilstein - @@ -81416,7 +79952,6 @@ Clc1ccc(Cl)cc1 CHEBI:18930 CHEBI:536 - Beilstein:1680023 CAS:106-46-7 Gmelin:49722 HMDB:HMDB0041971 @@ -81442,12 +79977,6 @@ 1,4-dichlorobenzene - - - - Beilstein:1680023 - Beilstein - @@ -81574,7 +80103,6 @@ NC(=O)C=C CHEBI:22215 CHEBI:2441 - Beilstein:605349 CAS:79-06-1 Gmelin:81842 HMDB:HMDB0004296 @@ -81609,12 +80137,6 @@ acrylamide - - - - Beilstein:605349 - Beilstein - @@ -81892,7 +80414,6 @@ CCC(C)C(=O)C([O-])=O CHEBI:1585 CHEBI:20116 - Beilstein:3904281 HMDB:HMDB0000491 KEGG:C03465 Reaxys:3904281 @@ -81903,18 +80424,13 @@ 2-Oxo-3-methylvalerate 2-keto-3-methylvalerate 3-Methyl-2-oxopentanoate + 3-methyl-2-oxopentanoate alpha-keto-beta-methylvalerate alpha-oxo-beta-methylvalerate CHEBI:28654 3-methyl-2-oxovalerate - - - - Beilstein:3904281 - Beilstein - @@ -81958,6 +80474,12 @@ 3-Methyl-2-oxopentanoate HMDB + + + + 3-methyl-2-oxopentanoate + UniProt + @@ -82094,7 +80616,6 @@ CCCCC\C=C/C\C=C/C\C=C/CCCCC(O)=O CHEBI:10573 CHEBI:24197 - Beilstein:1712253 CAS:506-26-3 Drug_Central:1276 HMDB:HMDB0003073 @@ -82131,12 +80652,6 @@ gamma-linolenic acid - - - - Beilstein:1712253 - Beilstein - @@ -82416,7 +80931,6 @@ CHEBI:23532 CHEBI:4074 CHEBI:40824 - Beilstein:89175 CAS:147-94-4 DrugBank:DB00987 Drug_Central:770 @@ -82446,12 +80960,6 @@ cytarabine - - - - Beilstein:89175 - Beilstein - @@ -83655,7 +82163,6 @@ CHEBI:1420 CHEBI:26652 CHEBI:49894 - Beilstein:143524 CAS:50-67-9 Gmelin:1861995 HMDB:HMDB0000259 @@ -83684,12 +82191,6 @@ serotonin - - - - Beilstein:143524 - Beilstein - @@ -83811,7 +82312,6 @@ CCCCCCCC\C=C/CCCCCCCCCCCC(O)=O CHEBI:23275 CHEBI:4836 - Beilstein:1728049 CAS:112-86-7 Gmelin:177365 HMDB:HMDB0002068 @@ -83842,12 +82342,6 @@ erucic acid - - - - Beilstein:1728049 - Beilstein - @@ -84002,7 +82496,6 @@ CHEBI:23402 CHEBI:3906 CHEBI:41552 - Beilstein:383644 CAS:91-64-5 DrugBank:DB04665 Drug_Central:738 @@ -84048,12 +82541,6 @@ coumarin - - - - Beilstein:383644 - Beilstein - @@ -84334,7 +82821,6 @@ CHEBI:12539 CHEBI:21491 CHEBI:7348 - Beilstein:90741 CAS:94-62-2 Gmelin:341351 HMDB:HMDB0029377 @@ -84363,12 +82849,6 @@ piperine - - - - Beilstein:90741 - Beilstein - @@ -84515,7 +82995,6 @@ [H][C@@]1(CC[C@@]2([H])[C@]3([H])CC=C4C[C@@H](O)CC[C@]4(C)[C@@]3([H])CC[C@]12C)[C@H](C)\C=C\[C@@H](CC)C(C)C CHEBI:26774 CHEBI:8195 - Beilstein:2568182 CAS:83-48-7 HMDB:HMDB0000937 KEGG:C05442 @@ -84540,12 +83019,6 @@ stigmasterol - - - - Beilstein:2568182 - Beilstein - @@ -84664,7 +83137,6 @@ CHEBI:5340 AGR:IND44675921 BPDB:371 - Beilstein:54346 CAS:77-06-5 DrugBank:DB07814 HMDB:HMDB0003559 @@ -84705,12 +83177,6 @@ AGR:IND44675921 Europe PMC - - - - Beilstein:54346 - Beilstein - @@ -84901,7 +83367,6 @@ CHEBI:48791 CHEBI:73176 CHEBI:910 - Beilstein:1214242 CAS:94-75-7 Gmelin:51306 HMDB:HMDB0041797 @@ -84938,12 +83403,6 @@ 2,4-D - - - - Beilstein:1214242 - Beilstein - @@ -85173,6 +83632,54 @@ tobramycin + + + + CAS:32986-56-4 + ChemIDplus + + + + + CAS:32986-56-4 + KEGG COMPOUND + + + + + Drug_Central:2684 + DrugCentral + + + + + PMID:11000679 + Europe PMC + + + + + PMID:11072877 + Europe PMC + + + + + PMID:11459219 + Europe PMC + + + + + PMID:11478352 + Europe PMC + + + + + PMID:14961139 + Europe PMC + @@ -85390,54 +83897,6 @@ Tobrex (TN) KEGG_DRUG - - - - CAS:32986-56-4 - ChemIDplus - - - - - CAS:32986-56-4 - KEGG COMPOUND - - - - - Drug_Central:2684 - DrugCentral - - - - - PMID:11000679 - Europe PMC - - - - - PMID:11072877 - Europe PMC - - - - - PMID:11459219 - Europe PMC - - - - - PMID:11478352 - Europe PMC - - - - - PMID:14961139 - Europe PMC - @@ -85455,7 +83914,6 @@ CCC(=O)OC(CC([O-])=O)C[N+](C)(C)C CHEBI:21972 CHEBI:7701 - Beilstein:4137829 HMDB:HMDB0000824 KEGG:C03017 PMID:22770225 @@ -85471,12 +83929,6 @@ O-propanoylcarnitine - - - - Beilstein:4137829 - Beilstein - @@ -85904,7 +84356,6 @@ CHEBI:22936 CHEBI:39632 CHEBI:612 - Beilstein:969148 CAS:71-36-3 DrugBank:DB02145 Gmelin:25753 @@ -85934,12 +84385,6 @@ butan-1-ol - - - - Beilstein:969148 - Beilstein - @@ -86067,7 +84512,6 @@ Nc1cccc(O)c1 CHEBI:10585 CHEBI:19965 - Beilstein:636059 CAS:591-27-5 Gmelin:2913 KEGG:C05058 @@ -86084,12 +84528,6 @@ 3-aminophenol - - - - Beilstein:636059 - Beilstein - @@ -86426,7 +84864,6 @@ CHEBI:21548 CHEBI:2418 CHEBI:45481 - Beilstein:1724426 CAS:616-91-1 DrugBank:DB06151 Drug_Central:66 @@ -86471,12 +84908,6 @@ N-acetyl-L-cysteine - - - - Beilstein:1724426 - Beilstein - @@ -86699,7 +85130,6 @@ CHEBI:10008 CHEBI:23170 CHEBI:46283 - Beilstein:2339331 CAS:67-97-0 DrugBank:DB00169 Drug_Central:2840 @@ -86751,9 +85181,21 @@ - - Beilstein:2339331 - Beilstein + + colecalciferol + ChemIDplus + + + + + oleovitamin D3 + NIST_Chemistry_WebBook + + + + + vitamin D3 + ChEBI @@ -86985,24 +85427,6 @@ activated 7-dehydrocholesterol ChemIDplus - - - - colecalciferol - ChemIDplus - - - - - oleovitamin D3 - NIST_Chemistry_WebBook - - - - - vitamin D3 - ChEBI - @@ -87022,7 +85446,6 @@ CHEBI:26939 CHEBI:39914 CHEBI:9521 - Beilstein:16464 CAS:83-67-0 DrugBank:DB01412 Drug_Central:2618 @@ -87065,12 +85488,6 @@ theobromine - - - - Beilstein:16464 - Beilstein - @@ -87285,7 +85702,6 @@ CHEBI:2683 CHEBI:40648 CHEBI:45042 - Beilstein:4300240 CAS:69-53-4 DrugBank:DB00415 Drug_Central:198 @@ -87347,12 +85763,6 @@ ampicillin - - - - Beilstein:4300240 - Beilstein - @@ -87742,7 +86152,6 @@ CHEBI:23059 CHEBI:3513 CHEBI:446214 - Beilstein:6495519 CAS:73384-59-5 DrugBank:DB01212 Drug_Central:564 @@ -87823,12 +86232,6 @@ ceftriaxone - - - - Beilstein:6495519 - Beilstein - @@ -88267,7 +86670,6 @@ CHEBI:21881 CHEBI:42414 BPDB:1324 - Beilstein:616790 CAS:1214-39-7 Gmelin:145502 HMDB:HMDB0039238 @@ -88298,12 +86700,6 @@ N-benzyladenine - - - - Beilstein:616790 - Beilstein - @@ -88440,7 +86836,6 @@ 266.33610 266.16304 CC(C)NCC(O)COc1ccc(CC(N)=O)cc1 - Beilstein:2739235 CAS:29122-68-7 DrugBank:DB00335 Drug_Central:255 @@ -88467,12 +86862,6 @@ atenolol - - - - Beilstein:2739235 - Beilstein - @@ -88588,7 +86977,6 @@ CHEBI:40892 CHEBI:43473 BPDB:2405 - Beilstein:84272 CAS:50-81-7 DrugBank:DB00126 Drug_Central:4072 @@ -88650,12 +87038,6 @@ L-ascorbic acid - - - - Beilstein:84272 - Beilstein - @@ -89661,7 +88043,6 @@ 748.50853 CC[C@H]1OC(=O)[C@H](C)[C@@H](O[C@H]2C[C@@](C)(OC)[C@@H](O)[C@H](C)O2)[C@H](C)[C@@H](O[C@@H]2O[C@H](C)C[C@@H]([C@H]2O)N(C)C)[C@](C)(O)C[C@@H](C)CN(C)[C@H](C)[C@@H](O)[C@]1(C)O CHEBI:46596 - Beilstein:5387583 CAS:83905-01-5 DrugBank:DB00207 Drug_Central:276 @@ -89695,12 +88076,6 @@ azithromycin - - - - Beilstein:5387583 - Beilstein - @@ -90828,7 +89203,6 @@ CHEBI:14345 CHEBI:24377 CHEBI:58235 - Beilstein:3739464 DrugBank:DB02691 KEGG:C01921 Reaxys:3739464 @@ -90839,12 +89213,6 @@ glycocholate - - - - Beilstein:3739464 - Beilstein - @@ -90884,7 +89252,6 @@ CHEBI:20216 CHEBI:23168 CHEBI:57748 - Beilstein:3915750 Reaxys:3915750 3alpha,7alpha,12alpha-trihydroxy-5beta-cholan-24-oate cholate @@ -90894,12 +89261,6 @@ cholate - - - - Beilstein:3915750 - Beilstein - @@ -90943,7 +89304,6 @@ CHEBI:14284 CHEBI:24122 CHEBI:42511 - Beilstein:1861276 CAS:142-42-7 DrugBank:DB01677 Gmelin:325288 @@ -90967,12 +89327,6 @@ fumarate(2-) - - - - Beilstein:1861276 - Beilstein - @@ -91073,7 +89427,6 @@ 446.364 446.08491 O[C@@H]1[C@@H](O)[C@H](OC2=CC3=C(C(=O)C=C(O3)C3=CC=CC=C3)C(O)=C2O)O[C@@H]([C@H]1O)C(O)=O - Beilstein:70480 CAS:21967-41-9 Drug_Central:4055 HMDB:HMDB0041832 @@ -91130,12 +89483,6 @@ baicalin - - - - Beilstein:70480 - Beilstein - @@ -91418,7 +89765,6 @@ c1ccc2c(c1)cc1ccc3cccc4ccc2c1c34 CHEBI:22716 CHEBI:3045 - Beilstein:1911333 CAS:50-32-8 Gmelin:262573 KEGG:C07535 @@ -91448,12 +89794,6 @@ benzo[a]pyrene - - - - Beilstein:1911333 - Beilstein - @@ -91829,7 +90169,6 @@ CHEBI:15125 CHEBI:22941 CHEBI:26803 - Beilstein:1863859 CAS:56-14-4 Gmelin:240255 MetaCyc:SUC @@ -91845,12 +90184,6 @@ succinate(2-) - - - - Beilstein:1863859 - Beilstein - @@ -91986,7 +90319,6 @@ CHEBI:13704 CHEBI:22165 CHEBI:40480 - Beilstein:1901470 CAS:71-50-1 DrugBank:DB03166 Gmelin:1379 @@ -92012,12 +90344,6 @@ acetate - - - - Beilstein:1901470 - Beilstein - @@ -92314,7 +90640,6 @@ 290.31770 290.13789 CCCCNC(=O)n1c(NC(=O)OC)nc2ccccc12 - Beilstein:825455 CAS:17804-35-2 HMDB:HMDB0031767 KEGG:C10896 @@ -92344,12 +90669,6 @@ benomyl - - - - Beilstein:825455 - Beilstein - @@ -92644,7 +90963,6 @@ CHEBI:12272 CHEBI:14515 CHEBI:20826 - Beilstein:4139597 CAS:1509-85-9 Gmelin:667201 KEGG:C01595 @@ -92663,12 +90981,6 @@ linoleate - - - - Beilstein:4139597 - Beilstein - @@ -92826,7 +91138,6 @@ 156.188 156.06875 C1=CN=C(C=C1)C1=CC=CC=N1 - Beilstein:113089 CAS:366-18-7 Chemspider:13867714 Gmelin:3720 @@ -92867,12 +91178,6 @@ 2,2'-bipyridine - - - - Beilstein:113089 - Beilstein - @@ -93586,7 +91891,6 @@ CHEBI:14702 CHEBI:25729 CHEBI:44820 - Beilstein:1905970 CAS:338-70-5 Gmelin:2207 KEGG:C00209 @@ -93603,12 +91907,6 @@ oxalate(2-) - - - - Beilstein:1905970 - Beilstein - @@ -93775,7 +92073,6 @@ CHEBI:21317 CHEBI:42277 CHEBI:5473 - Beilstein:505945 CAS:107-21-1 Gmelin:943 KEGG:C01380 @@ -93817,12 +92114,6 @@ ethylene glycol - - - - Beilstein:505945 - Beilstein - @@ -94035,7 +92326,6 @@ CHEBI:24959 CHEBI:25734 CHEBI:7812 - Beilstein:1705475 CAS:328-42-7 Gmelin:1042886 HMDB:HMDB0000223 @@ -94071,12 +92361,6 @@ oxaloacetic acid - - - - Beilstein:1705475 - Beilstein - @@ -94246,7 +92530,6 @@ CHEBI:22722 CHEBI:3029 CHEBI:41051 - Beilstein:636131 CAS:65-85-0 DrugBank:DB03793 Drug_Central:4664 @@ -94284,12 +92567,6 @@ benzoic acid - - - - Beilstein:636131 - Beilstein - @@ -94443,7 +92720,6 @@ CHEBI:22578 CHEBI:2757 CHEBI:40980 - Beilstein:471803 CAS:118-92-3 DrugBank:DB04166 Gmelin:3397 @@ -94477,12 +92753,6 @@ anthranilic acid - - - - Beilstein:471803 - Beilstein - @@ -94639,7 +92909,6 @@ Oc1ccccc1C([O-])=O CHEBI:15061 CHEBI:26595 - Beilstein:3605209 CAS:63-36-5 Gmelin:3417 KEGG:C00805 @@ -94658,12 +92927,6 @@ salicylate - - - - Beilstein:3605209 - Beilstein - @@ -94972,7 +93235,6 @@ CHEBI:3727 CHEBI:41523 BPDB:1359 - Beilstein:782061 CAS:77-92-9 DrugBank:DB04272 Drug_Central:666 @@ -95017,12 +93279,6 @@ citric acid - - - - Beilstein:782061 - Beilstein - @@ -95241,7 +93497,6 @@ CHEBI:22948 CHEBI:3234 CHEBI:41208 - Beilstein:906770 CAS:107-92-6 DrugBank:DB03568 Gmelin:26242 @@ -95302,12 +93557,6 @@ butyric acid - - - - Beilstein:906770 - Beilstein - @@ -95624,7 +93873,6 @@ 117.08010 117.01933 OC(=O)CCC([O-])=O - Beilstein:3904279 Gmelin:325292 Reaxys:3904279 3-carboxypropanoate @@ -95636,12 +93884,6 @@ succinate(1-) - - - - Beilstein:3904279 - Beilstein - @@ -95697,7 +93939,6 @@ [O-]C(=O)\C=C/C([O-])=O CHEBI:14559 CHEBI:25118 - Beilstein:3588415 Gmelin:49853 Reaxys:3588415 (2Z)-but-2-enedioate @@ -95708,12 +93949,6 @@ maleate(2-) - - - - Beilstein:3588415 - Beilstein - @@ -95763,7 +93998,6 @@ CHEBI:25132 CHEBI:44060 CHEBI:6660 - Beilstein:1751370 CAS:141-82-2 DrugBank:DB02175 Gmelin:2550 @@ -95787,12 +94021,6 @@ malonic acid - - - - Beilstein:1751370 - Beilstein - @@ -95889,7 +94117,6 @@ 227.20165 C(CCCCCCCC)CCCCC([O-])=O CHEBI:35292 - Beilstein:3589340 Gmelin:335122 KEGG:C06424 Reaxys:3589340 @@ -95906,12 +94133,6 @@ tetradecanoate - - - - Beilstein:3589340 - Beilstein - @@ -95997,7 +94218,6 @@ CCCCCCCC\C=C/CCCCCCCC([O-])=O CHEBI:14684 CHEBI:25663 - Beilstein:1913148 CAS:115-06-0 Gmelin:344067 PMID:12429352 @@ -96013,12 +94233,6 @@ oleate - - - - Beilstein:1913148 - Beilstein - @@ -96098,7 +94312,6 @@ OC(=O)CCCCC(O)=O CHEBI:22268 CHEBI:2489 - Beilstein:1209788 CAS:124-04-9 Drug_Central:3474 FAO/WHO_standards:174 @@ -96131,12 +94344,6 @@ adipic acid - - - - Beilstein:1209788 - Beilstein - @@ -96366,7 +94573,6 @@ CHEBI:14447 CHEBI:14452 CHEBI:24801 - Beilstein:3906817 Gmelin:329972 Reaxys:3906817 1H-indol-3-ylacetate @@ -96377,12 +94583,6 @@ indole-3-acetate - - - - Beilstein:3906817 - Beilstein - @@ -96431,7 +94631,6 @@ OC(C(CC(O)=O)C(O)=O)C(O)=O CHEBI:24886 CHEBI:5998 - Beilstein:1727945 CAS:320-77-4 DrugBank:DB01727 ECMDB:ECMDB04088 @@ -96455,12 +94654,6 @@ isocitric acid - - - - Beilstein:1727945 - Beilstein - @@ -96542,7 +94735,6 @@ 430.370 430.06104 CHEBI:91617 - Beilstein:5364666 CAS:90357-06-5 DrugBank:DB01128 Drug_Central:367 @@ -96597,12 +94789,6 @@ bicalutamide - - - - Beilstein:5364666 - Beilstein - @@ -97094,7 +95280,6 @@ [O-]C(=O)CCCC([O-])=O CHEBI:14322 CHEBI:24327 - Beilstein:3904695 Gmelin:240388 Reaxys:3904695 pentanedioate @@ -97104,12 +95289,6 @@ glutarate(2-) - - - - Beilstein:3904695 - Beilstein - @@ -98597,7 +96776,6 @@ 589.70968 589.24712 CS(O)(=O)=O.CN1CCN(CC1)Cc1ccc(cc1)C(=O)Nc1ccc(C)c(Nc2nccc(n2)-c2cccnc2)c1 - Beilstein:10229624 CAS:220127-57-1 DrugBank:DB00619 HMDB:HMDB0014757 @@ -98643,12 +96821,6 @@ imatinib methanesulfonate - - - - Beilstein:10229624 - Beilstein - @@ -98873,7 +97045,6 @@ 133.14730 133.05276 O=C1Cc2ccccc2N1 - Beilstein:114692 CAS:59-48-3 Gmelin:637057 KEGG:C12312 @@ -98892,12 +97063,6 @@ indolin-2-one - - - - Beilstein:114692 - Beilstein - @@ -99155,7 +97320,6 @@ 157.00790 155.95746 Brc1ccccc1 - Beilstein:1236661 CAS:108-86-1 KEGG:C11036 MetaCyc:BROMOBENZENE @@ -99174,12 +97338,6 @@ bromobenzene - - - - Beilstein:1236661 - Beilstein - @@ -99599,7 +97757,6 @@ 147.05316 CN[C@H](CC(O)=O)C(O)=O CHEBI:164776 - Beilstein:1724431 CAS:6384-92-5 HMDB:HMDB0002393 KEGG:C12269 @@ -99628,12 +97785,6 @@ N-methyl-D-aspartic acid - - - - Beilstein:1724431 - Beilstein - @@ -101164,7 +99315,6 @@ 182.99901 O=C1NS(=O)(=O)c2ccccc12 CHEBI:49717 - Beilstein:6888 CAS:81-07-2 Gmelin:4203 HMDB:HMDB0029723 @@ -101207,12 +99357,6 @@ saccharin - - - - Beilstein:6888 - Beilstein - @@ -102000,7 +100144,6 @@ 239.74086 239.10769 CC(NC(C)(C)C)C(=O)c1cccc(Cl)c1 - Beilstein:2101062 CAS:34841-39-9 CAS:34911-55-2 DrugBank:DB01156 @@ -102021,12 +100164,6 @@ bupropion - - - - Beilstein:2101062 - ChemIDplus - @@ -102092,7 +100229,6 @@ 385.504 385.24778 C=1N=C(N=CC1)N2CCN(CC2)CCCCN3C(CC4(CC3=O)CCCC4)=O - Beilstein:964904 CAS:36505-84-7 DrugBank:DB00490 Drug_Central:437 @@ -102119,12 +100255,6 @@ buspirone - - - - Beilstein:964904 - Beilstein - @@ -102348,7 +100478,6 @@ 129.17692 129.09210 CCCCCCC([O-])=O - Beilstein:3903940 CAS:7563-37-3 Gmelin:327115 MetaCyc:CPD-7619 @@ -102373,12 +100502,6 @@ heptanoate - - - - Beilstein:3903940 - Beilstein - @@ -102934,7 +101057,6 @@ 225.34710 225.18600 CCCC\C=C/CCCCCCCC([O-])=O - Beilstein:6391251 Reaxys:6391251 (9Z)-tetradec-9-enoate chebi_ontology @@ -102949,12 +101071,6 @@ myristoleate - - - - Beilstein:6391251 - Beilstein - @@ -103032,7 +101148,6 @@ 253.40026 253.21730 CCCCCC\C=C/CCCCCCCC([O-])=O - Beilstein:6394065 Gmelin:1789543 Reaxys:6394065 (9Z)-hexadec-9-enoate @@ -103050,12 +101165,6 @@ palmitoleate - - - - Beilstein:6394065 - Beilstein - @@ -103215,7 +101324,6 @@ 276.41370 276.20893 CC\C=C/C\C=C/C\C=C/C\C=C/CCCCC(O)=O - Beilstein:1712973 CAS:20290-75-9 HMDB:HMDB0006547 KEGG:C16300 @@ -103238,12 +101346,6 @@ all-cis-octadeca-6,9,12,15-tetraenoic acid - - - - Beilstein:1712973 - Beilstein - @@ -103420,7 +101522,6 @@ 337.55970 337.31120 CCCCCCCC\C=C/CCCCCCCCCCCC([O-])=O - Beilstein:6116536 Gmelin:385960 MetaCyc:CPD-14292 Reaxys:6116536 @@ -103435,12 +101536,6 @@ erucate - - - - Beilstein:6116536 - Beilstein - @@ -103596,7 +101691,6 @@ 75.13384 75.01427 CC(N)=S - Beilstein:506006 CAS:62-55-5 KEGG:C19302 PMID:20138653 @@ -103625,12 +101719,6 @@ thioacetamide - - - - Beilstein:506006 - Beilstein - @@ -104964,7 +103052,6 @@ CHEBI:31044 CHEBI:44550 BPDB:1330 - Beilstein:1308415 CAS:86-87-3 DrugBank:DB01750 Gmelin:2062516 @@ -104990,12 +103077,6 @@ 1-naphthaleneacetic acid - - - - Beilstein:1308415 - Beilstein - @@ -105115,7 +103196,6 @@ 165.16596 165.05572 O[C@@H](Cc1ccccc1)C([O-])=O - Beilstein:5740554 Reaxys:5740554 (2S)-2-hydroxy-3-phenylpropanoate chebi_ontology @@ -105123,12 +103203,6 @@ (S)-3-phenyllactate - - - - Beilstein:5740554 - Beilstein - @@ -105327,7 +103401,6 @@ 202.25060 202.07825 c1ccc-2c(c1)-c1cccc3cccc-2c13 - Beilstein:1907918 CAS:206-44-0 Gmelin:262216 KEGG:C19425 @@ -105345,12 +103418,6 @@ fluoranthene - - - - Beilstein:1907918 - Beilstein - @@ -106772,7 +104839,6 @@ 440.45424 440.15969 CCOc1nc2cccc(C(O)=O)c2n1Cc1ccc(cc1)-c1ccccc1-c1nnn[nH]1 - Beilstein:6377719 CAS:139481-59-7 DrugBank:DB00796 HMDB:HMDB0014934 @@ -106796,12 +104862,6 @@ candesartan - - - - Beilstein:6377719 - Beilstein - @@ -107018,7 +105078,6 @@ C9H13NO3 183.207 183.08954 - Beilstein:2212160 CAS:329-65-7 Drug_Central:4508 Gmelin:51559 @@ -107043,12 +105102,6 @@ adrenaline - - - - Beilstein:2212160 - ChemIDplus - @@ -107774,7 +105827,6 @@ 236.09496 NC(=O)N1c2ccccc2C=Cc2ccccc12 CHEBI:115086 - Beilstein:1246090 CAS:298-46-4 DrugBank:DB00564 Drug_Central:489 @@ -107860,12 +105912,6 @@ carbamazepine - - - - Beilstein:1246090 - Beilstein - @@ -108313,6 +106359,7 @@ 105.01933 OCC(O)C([O-])=O Reaxys:3602204 + glycerate chebi_ontology CHEBI:33871 @@ -108324,6 +106371,12 @@ Reaxys:3602204 Reaxys + + + + glycerate + UniProt + @@ -108719,7 +106772,6 @@ 320.46628 320.23514 CCCCC\C=C/C[C@H](O)\C=C\C=C/C\C=C/CCCC(O)=O - Beilstein:2656104 CAS:54397-83-0 KEGG:C14777 KNApSAcK:C00000424 @@ -108756,12 +106808,6 @@ 12(S)-HETE - - - - Beilstein:2656104 - Beilstein - @@ -109582,7 +107628,6 @@ 350.58644 348.92628 CCOP(=S)(OCC)Oc1nc(Cl)c(Cl)cc1Cl - Beilstein:1545756 CAS:2921-88-2 HMDB:HMDB0041856 KEGG:C14322 @@ -109627,12 +107672,6 @@ chlorpyrifos - - - - Beilstein:1545756 - Beilstein - @@ -109883,7 +107922,6 @@ 214.03967 CC(C)(Oc1ccc(Cl)cc1)C(O)=O CHEBI:73161 - Beilstein:1874067 CAS:882-09-7 Drug_Central:695 KEGG:C13700 @@ -109926,12 +107964,6 @@ clofibric acid - - - - Beilstein:1874067 - Beilstein - @@ -110158,7 +108190,6 @@ 304.34658 304.10105 CCOP(=S)(OCC)Oc1cc(C)nc(n1)C(C)C - Beilstein:273790 CAS:333-41-5 HMDB:HMDB0032943 KEGG:C14324 @@ -110184,12 +108215,6 @@ diazinon - - - - Beilstein:273790 - Beilstein - @@ -110297,7 +108322,6 @@ 278.15181 CCCCOC(=O)c1ccccc1C(=O)OCCCC CHEBI:535597 - Beilstein:1914064 CAS:84-74-2 Drug_Central:4414 Gmelin:262569 @@ -110342,12 +108366,6 @@ dibutyl phthalate - - - - Beilstein:1914064 - Beilstein - @@ -110793,7 +108811,6 @@ 102.135 102.07931 CCN(CC)N=O - Beilstein:1744991 CAS:55-18-5 KEGG:C14422 PMID:24696076 @@ -110814,12 +108831,6 @@ N-nitrosodiethylamine - - - - Beilstein:1744991 - Beilstein - @@ -110933,7 +108944,6 @@ 301.32000 301.05211 COC(=O)Nc1nc2cc(ccc2[nH]1)C(=O)c1cccs1 - Beilstein:1085978 CAS:31430-18-9 DrugBank:DB08313 KEGG:C13719 @@ -110969,12 +108979,6 @@ nocodazole - - - - Beilstein:1085978 - Beilstein - @@ -111157,7 +109161,6 @@ 186.25304 186.11460 C[n+]1ccc(cc1)-c1cc[n+](C)cc1 - Beilstein:3590305 CAS:4685-14-7 Chemspider:15147 FooDB:FDB011120 @@ -111199,12 +109202,6 @@ paraquat - - - - Beilstein:3590305 - Beilstein - @@ -112823,7 +110820,6 @@ 840.12426 839.48669 [H]N1[C@@H](Cc2ccc(OC)cc2)C(=O)N(C)[C@@H](C)C(=O)N(C)[C@@H]([C@@H](C)CC)C(=O)N2CCC[C@H]2C(=O)O[C@@H](C[C@@H](C)C[C@H](O)[C@H](C)C2=N[C@H](CS2)\C=C(C)\C1=O)C(C)(C)C - Beilstein:9181215 CAS:350791-64-9 PMID:11389621 PMID:18461997 @@ -112839,12 +110835,6 @@ apratoxin A - - - - Beilstein:9181215 - Beilstein - @@ -113295,7 +111285,6 @@ CHEBI:26272 CHEBI:26748 CHEBI:9247 - Beilstein:3542403 CAS:471-87-4 DrugBank:DB04284 HMDB:HMDB0004827 @@ -113317,12 +111306,6 @@ L-proline betaine - - - - Beilstein:3542403 - Beilstein - @@ -115068,7 +113051,6 @@ 514.08340 513.96731 OC(=O)C(F)(F)C(F)(F)C(F)(F)C(F)(F)C(F)(F)C(F)(F)C(F)(F)C(F)(F)C(F)(F)F - Beilstein:1810811 CAS:335-76-2 Gmelin:35659 PMID:24367824 @@ -115087,12 +113069,6 @@ perfluorodecanoic acid - - - - Beilstein:1810811 - ChemIDplus - @@ -115598,7 +113574,6 @@ 69.06200 69.02146 c1cnoc1 - Beilstein:103773 CAS:288-14-2 Gmelin:1041679 Reaxys:103773 @@ -115612,12 +113587,6 @@ isoxazole - - - - Beilstein:103773 - Beilstein - @@ -116188,7 +114157,6 @@ 129.83860 128.87090 [Cl-].[Cl-].[Co++] - Beilstein:3902826 CAS:7646-79-9 Gmelin:9298 LINCS:LSM-5958 @@ -116230,12 +114198,6 @@ cobalt dichloride - - - - Beilstein:3902826 - Beilstein - @@ -117527,7 +115489,6 @@ 505.44700 504.20320 Clc1ccc(NC(=N)NC(=N)NCCCCCCNC(=N)NC(=N)Nc2ccc(Cl)cc2)cc1 - Beilstein:2826432 CAS:55-56-1 DrugBank:DB00878 Drug_Central:597 @@ -117555,12 +115516,6 @@ chlorhexidine - - - - Beilstein:2826432 - Beilstein - @@ -117707,7 +115662,6 @@ 158.15190 158.05901 [O-]C(=O)CCCCCC([O-])=O - Beilstein:3905193 Gmelin:363895 MetaCyc:CPD-205 Reaxys:3905193 @@ -117718,12 +115672,6 @@ pimelate(2-) - - - - Beilstein:3905193 - Beilstein - @@ -117825,7 +115773,6 @@ [H][C@@]12C[C@H](O)CC[C@]1(C)[C@@]1([H])CC[C@]3(C)[C@]([H])(CC[C@@]3([H])[C@]1([H])[C@H](O)C2)[C@H](C)CCC(=O)NCC([O-])=O CHEBI:58664 CHEBI:59452 - Beilstein:3730023 Reaxys:3730023 N-(3alpha,7alpha-dihydroxy-5beta-cholan-24-oyl)glycinate glycochenodeoxycholate @@ -117834,12 +115781,6 @@ glycochenodeoxycholate - - - - Beilstein:3730023 - Beilstein - @@ -117874,7 +115815,6 @@ 514.69610 514.28440 [H][C@@]12C[C@H](O)CC[C@]1(C)[C@@]1([H])C[C@H](O)[C@]3(C)[C@]([H])(CC[C@@]3([H])[C@]1([H])[C@H](O)C2)[C@H](C)CCC(=O)NCCS([O-])(=O)=O - Beilstein:3919947 MetaCyc:CPD-3743 Reaxys:3919947 2-[(3alpha,7alpha,12alpha-trihydroxy-24-oxo-5beta-cholan-24-yl)amino]ethanesulfonate @@ -117884,12 +115824,6 @@ taurocholate - - - - Beilstein:3919947 - Beilstein - @@ -117924,7 +115858,6 @@ 498.69670 498.28948 [H][C@]12CC[C@@]3([H])[C@]4([H])CC[C@]([H])([C@H](C)CCC(=O)NCCS([O-])(=O)=O)[C@@]4(C)[C@@H](O)C[C@]3([H])[C@@]1(C)CC[C@@H](O)C2 - Beilstein:3919126 KEGG:C05463 Reaxys:3919126 2-[(3alpha,12alpha-dihydroxy-24-oxo-5beta-cholan-24-yl)amino]ethanesulfonate @@ -117934,12 +115867,6 @@ taurodeoxycholate - - - - Beilstein:3919126 - Beilstein - @@ -118087,7 +116014,6 @@ 319.87200 319.18153 CCN(CC)CCCC(C)Nc1ccnc2cc(Cl)ccc12 - Beilstein:482809 CAS:54-05-7 DrugBank:DB00608 Drug_Central:607 @@ -118133,12 +116059,6 @@ chloroquine - - - - Beilstein:482809 - Beilstein - @@ -118430,7 +116350,7 @@ C7H7O7 InChI=1S/C7H10O7/c8-4(9)1-2-7(14,6(12)13)3-5(10)11/h14H,1-3H2,(H,8,9)(H,10,11)(H,12,13)/p-3 XKJVEVRQMLKSMO-UHFFFAOYSA-K - 203.12630 + 203.128 203.02082 OC(CCC([O-])=O)(CC([O-])=O)C([O-])=O CHEBI:11593 @@ -118484,7 +116404,7 @@ - 0 + -2 C7H8O7 204.135 204.02700 @@ -118500,7 +116420,7 @@ - 0 + -1 C7H9O7 205.142 205.03483 @@ -118525,7 +116445,6 @@ 318.86400 318.09575 CN(C)CCCN1c2ccccc2Sc2ccc(Cl)cc12 - Beilstein:289793 CAS:50-53-3 DrugBank:DB00477 Drug_Central:621 @@ -118566,12 +116485,6 @@ chlorpromazine - - - - Beilstein:289793 - Beilstein - @@ -118773,7 +116686,6 @@ 276.03354 CCCNC(=O)NS(=O)(=O)c1ccc(Cl)cc1 CHEBI:108516 - Beilstein:2218363 CAS:94-20-2 DrugBank:DB00672 Drug_Central:622 @@ -118805,12 +116717,6 @@ chlorpropamide - - - - Beilstein:2218363 - Beilstein - @@ -118963,7 +116869,6 @@ 624.58453 [H][C@@]1(CC[C@@]2([H])[C@]3([H])CC=C4C[C@H](CC[C@]4(C)[C@@]3([H])CC[C@]12C)OC(=O)CCCCCCCCCCCCCCC)[C@H](C)CCCC(C)C CHEBI:84319 - Beilstein:2342867 CAS:601-34-3 HMDB:HMDB0000885 KEGG:C11251 @@ -118989,12 +116894,6 @@ cholesteryl palmitate - - - - Beilstein:2342867 - Beilstein - @@ -119220,7 +117119,6 @@ 375.42548 375.14840 c1cc2cc3ccc([nH]3)c3ccc(cc4ccc(cc5ccc(cc1n2)[nH]5)n4)[nH]3 - Beilstein:7662683 PMID:22070570 Reaxys:7662683 (6Z,11Z,15Z,20Z)-25,26,27,28,29-pentaazahexacyclo[20.2.1.1(2,5).1(7,10).1(12,15).1(17,20)]nonacosa-1(24),2,4,6,8,10(28),11,13,15,17(26),18,20,22-tridecaene @@ -119230,12 +117128,6 @@ sapphyrin - - - - Beilstein:7662683 - Beilstein - @@ -119831,7 +117723,6 @@ 161.06881 NC(CCCC(O)=O)C(O)=O CHEBI:64698 - Beilstein:1724349 Beilstein:1773077 CAS:542-32-5 HMDB:HMDB0000510 @@ -119855,12 +117746,6 @@ 2-aminoadipic acid - - - - Beilstein:1724349 - Beilstein - @@ -119974,7 +117859,6 @@ 103.09658 103.04007 CC(O)CC([O-])=O - Beilstein:4127635 Reaxys:4127635 3-hydroxybutanoate chebi_ontology @@ -119988,12 +117872,6 @@ 3-hydroxybutyrate - - - - Beilstein:4127635 - Beilstein - @@ -120058,7 +117936,6 @@ 115.06422 115.00368 OC(=O)\C=C\C([O-])=O - Beilstein:1906438 Gmelin:325290 Reaxys:1906438 (2E)-3-carboxyprop-2-enoate @@ -120070,12 +117947,6 @@ fumarate(1-) - - - - Beilstein:1906438 - Beilstein - @@ -120129,7 +118000,6 @@ 115.06422 115.00368 OC(=O)\C=C/C([O-])=O - Beilstein:3537457 Gmelin:325289 Reaxys:3537457 (2Z)-3-carboxyprop-2-enoate @@ -120141,12 +118011,6 @@ maleate(1-) - - - - Beilstein:3537457 - Beilstein - @@ -120196,7 +118060,6 @@ C20H21FN2O 324.393 324.16379 - Beilstein:1397373 CAS:59729-33-8 DrugBank:DB00215 HMDB:HMDB0005038 @@ -120228,12 +118091,6 @@ citalopram - - - - Beilstein:1397373 - Beilstein - @@ -120379,7 +118236,6 @@ CHEBI:41676 CHEBI:442148 CHEBI:670147 - Beilstein:3581974 CAS:81103-11-9 DrugBank:DB01211 Drug_Central:668 @@ -120407,12 +118263,6 @@ clarithromycin - - - - Beilstein:3581974 - Beilstein - @@ -120531,7 +118381,6 @@ [H][C@]12Cc3c([nH]c4cc(O)ccc34)[S@](=O)C[C@]([H])(NC(=O)CNC(=O)[C@@]([H])(NC(=O)CNC1=O)[C@@H](C)CC)C(=O)N[C@@H](CC(N)=O)C(=O)N1C[C@H](O)C[C@@]1([H])C(=O)N[C@@]([H])([C@@H](C)[C@@H](O)CO)C(=O)N2 CHEBI:10207 CHEBI:37414 - Beilstein:1071138 CAS:23109-05-9 KEGG:C08438 KNApSAcK:C00001516 @@ -120554,12 +118403,6 @@ alpha-amanitin - - - - Beilstein:1071138 - Beilstein - @@ -121629,7 +119472,6 @@ CCCCCCCCCCCCC\C=C\[C@@H](O)[C@@H](N)COP(O)(O)=O CHEBI:26742 CHEBI:9225 - Beilstein:5877213 CAS:26993-30-6 HMDB:HMDB0000277 KEGG:C06124 @@ -121727,12 +119569,6 @@ sphingosine 1-phosphate - - - - Beilstein:5877213 - Beilstein - @@ -122380,7 +120216,6 @@ 344.83700 344.10803 Clc1ccccc1C(c1ccccc1)(c1ccccc1)n1ccnc1 - Beilstein:622318 CAS:23593-75-1 DrugBank:DB00257 Drug_Central:719 @@ -122406,12 +120241,6 @@ clotrimazole - - - - Beilstein:622318 - Beilstein - @@ -124857,7 +122686,6 @@ 481.53800 481.16828 CC(C)c1nc(nc(-c2ccc(F)cc2)c1\C=C\[C@@H](O)C[C@@H](O)CC(O)=O)N(C)S(C)(=O)=O - Beilstein:9670765 CAS:287714-41-4 DrugBank:DB01098 Drug_Central:2406 @@ -124902,12 +122730,6 @@ rosuvastatin - - - - Beilstein:9670765 - Beilstein - @@ -126655,11 +124477,12 @@ C33H35FN2O5 InChI=1S/C33H35FN2O5/c1-21(2)31-30(33(41)35-25-11-7-4-8-12-25)29(22-9-5-3-6-10-22)32(23-13-15-24(34)16-14-23)36(31)18-17-26(37)19-27(38)20-28(39)40/h3-16,21,26-27,37-38H,17-20H2,1-2H3,(H,35,41)(H,39,40)/t26-,27-/m1/s1 XUKUURHRXDUEBC-KAYWLYCHSA-N - 558.63988 + 558.650 558.25300 - CC(C)c1c(C(=O)Nc2ccccc2)c(-c2ccccc2)c(-c2ccc(F)cc2)n1CC[C@@H](O)C[C@@H](O)CC(O)=O + CC(C)C1=C(C(=O)NC2=CC=CC=C2)C(=C(N1CC[C@@H](O)C[C@@H](O)CC(O)=O)C1=CC=C(F)C=C1)C1=CC=CC=C1 CHEBI:2910 CHEBI:39538 + CHEBI:94450 Beilstein:8373630 CAS:134523-00-5 DrugBank:DB01076 @@ -127987,7 +125810,6 @@ 261.08544 260.02482 ClCCN(CCCl)P1(=O)NCCCO1 - Beilstein:11744 CAS:50-18-0 DrugBank:DB00531 Drug_Central:758 @@ -128011,12 +125833,6 @@ cyclophosphamide - - - - Beilstein:11744 - Beilstein - @@ -128120,7 +125936,6 @@ Oc1ncnc2[nH]ncc12 CHEBI:2601 CHEBI:40276 - Beilstein:608611 CAS:315-30-0 DrugBank:DB00437 Drug_Central:124 @@ -128156,12 +125971,6 @@ allopurinol - - - - Beilstein:608611 - Beilstein - @@ -128348,7 +126157,6 @@ CC[C@@H]1NC(=O)[C@H]([C@H](O)[C@H](C)C\C=C\C)N(C)C(=O)[C@H](C(C)C)N(C)C(=O)[C@H](CC(C)C)N(C)C(=O)[C@H](CC(C)C)N(C)C(=O)[C@@H](C)NC(=O)[C@H](C)NC(=O)[C@H](CC(C)C)N(C)C(=O)[C@@H](NC(=O)[C@H](CC(C)C)N(C)C(=O)CN(C)C1=O)C(C)C CHEBI:63586 CHEBI:91802 - Beilstein:3647785 CAS:59865-13-3 Chemspider:4447449 DrugBank:DB00091 @@ -128465,12 +126273,6 @@ cyclosporin A - - - - Beilstein:3647785 - Beilstein - @@ -129106,7 +126908,6 @@ 434.28706 433.06478 CC1(C)C(C=C(Cl)Cl)C1C(=O)OC(C#N)c1ccc(F)c(Oc2ccccc2)c1 - Beilstein:2788149 CAS:68359-37-5 Drug_Central:4407 KEGG:C10982 @@ -129126,12 +126927,6 @@ cyfluthrin - - - - Beilstein:2788149 - Beilstein - @@ -129342,7 +127137,6 @@ 178.21058 178.04121 N[C@@H](CS)C(=O)NCC(O)=O - Beilstein:1724689 CAS:19246-18-5 ECMDB:ECMDB00078 Gmelin:83158 @@ -129364,12 +127158,6 @@ L-cysteinylglycine - - - - Beilstein:1724689 - ChemIDplus - @@ -129543,7 +127331,6 @@ 403.38750 403.11682 CO\C=C(\C(=O)OC)c1ccccc1Oc1cc(Oc2ccccc2C#N)ncn1 - Beilstein:8350244 CAS:131860-33-8 KEGG:C18558 PDBeChem:AZO @@ -129576,12 +127363,6 @@ azoxystrobin - - - - Beilstein:8350244 - Beilstein - @@ -132454,7 +130235,6 @@ 410.50120 410.23045 [H][C@@]12[C@H](O)[C@H](OC(C)=O)[C@@]3(C)O[C@](C)(CC(=O)[C@]3(O)[C@@]1(C)[C@@H](O)CCC2(C)C)C=C - Beilstein:4300863 CAS:66428-89-5 CAS:66575-29-9 DrugBank:DB02587 @@ -132502,12 +130282,6 @@ forskolin - - - - Beilstein:4300863 - Beilstein - @@ -133671,7 +131445,6 @@ 171.12593 NCC1(CCCCC1)CC(O)=O CHEBI:5237 - Beilstein:2359739 CAS:60142-96-3 DrugBank:DB00996 Drug_Central:1264 @@ -133724,12 +131497,6 @@ gabapentin - - - - Beilstein:2359739 - ChemIDplus - @@ -139268,7 +137035,6 @@ Cc1c(cc(cc1[N+]([O-])=O)[N+]([O-])=O)[N+]([O-])=O CHEBI:19337 CHEBI:46051 - Beilstein:1887900 CAS:118-96-7 DrugBank:DB01676 KEGG:C16391 @@ -139299,12 +137065,6 @@ 2,4,6-trinitrotoluene - - - - Beilstein:1887900 - Beilstein - @@ -140422,7 +138182,6 @@ 339.47458 339.23106 CC(C)N(CCC(C(N)=O)(c1ccccc1)c1ccccn1)C(C)C - Beilstein:492056 CAS:3737-09-5 DrugBank:DB00280 Drug_Central:926 @@ -140446,12 +138205,6 @@ disopyramide - - - - Beilstein:492056 - Beilstein - @@ -141026,7 +138779,6 @@ 230.15181 OC(=O)CCCCCCCCCCC(O)=O AGR:IND44425877 - Beilstein:1782580 CAS:693-23-2 Gmelin:261693 HMDB:HMDB0000623 @@ -141063,12 +138815,6 @@ AGR:IND44425877 Europe PMC - - - - Beilstein:1782580 - Beilstein - @@ -141432,7 +139178,6 @@ CCCCCCCCCCCCOCCOCCOCCOCCOCCOCCOCCOCCOCCO CHEBI:34927 CHEBI:41445 - Beilstein:1895308 CAS:3055-99-0 KEGG:C13493 PDBeChem:CE9 @@ -141465,12 +139210,6 @@ polidocanol - - - - Beilstein:1895308 - Beilstein - @@ -141833,7 +139572,6 @@ CHEBI:34064 CHEBI:41951 CHEBI:46925 - Beilstein:102551 CAS:123-91-1 DrugBank:DB03316 KEGG:C14440 @@ -141863,12 +139601,6 @@ 1,4-dioxane - - - - Beilstein:102551 - Beilstein - @@ -142008,7 +139740,6 @@ C1(Cl)=CC=CC(=C1NC2=CC=CC=C2CC(=O)O)Cl CHEBI:4507 CHEBI:47380 - Beilstein:2146636 CAS:15307-86-5 DrugBank:DB00586 Drug_Central:865 @@ -142042,12 +139773,6 @@ diclofenac - - - - Beilstein:2146636 - Beilstein - @@ -142191,7 +139916,6 @@ 454.03001 [C@]12(N(C(=C(CS1)CSC3=NN=C(S3)C)C(=O)O)C([C@H]2NC(=O)CN4C=NN=N4)=O)[H] CHEBI:3482 - Beilstein:4169371 CAS:25953-19-9 DrugBank:DB01327 Drug_Central:530 @@ -142228,12 +139952,6 @@ cefazolin - - - - Beilstein:4169371 - Beilstein - @@ -143243,7 +140961,6 @@ CN(C)CCCN1c2ccccc2CCc2ccc(Cl)cc12 CHEBI:3754 CHEBI:47359 - Beilstein:1323477 CAS:303-49-1 DrugBank:DB01242 Drug_Central:701 @@ -143274,12 +140991,6 @@ clomipramine - - - - Beilstein:1323477 - ChemIDplus - @@ -143444,7 +141155,6 @@ 177.290 177.02821 N(=C=S)CCCCS(=O)C - Beilstein:1723237 CAS:4478-93-7 HMDB:HMDB0005792 LINCS:LSM-4919 @@ -143468,12 +141178,6 @@ sulforaphane - - - - Beilstein:1723237 - Beilstein - @@ -143796,7 +141500,6 @@ 436.50214 436.23218 [H][C@]12CCCN1C(=O)[C@H](CCCCCC(=O)C1CO1)NC(=O)[C@@H](C)NC(=O)[C@H](C)NC2=O - Beilstein:4729824 CAS:83209-65-8 KEGG:C15676 PMID:10671527 @@ -143819,12 +141522,6 @@ HC toxin - - - - Beilstein:4729824 - Beilstein - @@ -144361,7 +142058,6 @@ 137.36720 135.90496 FC(Cl)(Cl)Cl - Beilstein:1732469 CAS:75-69-4 PMID:1114326 PMID:24189105 @@ -144386,12 +142082,6 @@ trichlorofluoromethane - - - - Beilstein:1732469 - ChemIDplus - @@ -144605,7 +142295,6 @@ 229.29900 229.08850 C[N+](C)(C)[C@@H](Cc1c[nH]c(S)n1)C([O-])=O - Beilstein:5755696 CAS:497-30-3 HMDB:HMDB0003045 KEGG:C05570 @@ -144664,12 +142353,6 @@ ergothioneine - - - - Beilstein:5755696 - Beilstein - @@ -145048,7 +142731,6 @@ 56.10632 56.06260 CCC=C - Beilstein:1098262 CAS:106-98-9 Gmelin:25205 PMID:24819240 @@ -145067,12 +142749,6 @@ but-1-ene - - - - Beilstein:1098262 - Beilstein - @@ -145408,7 +143084,6 @@ CCCCC1C(=O)N(N(C1=O)c1ccccc1)c1ccccc1 CHEBI:44635 CHEBI:8091 - Beilstein:290080 CAS:50-33-9 DrugBank:DB00812 Drug_Central:2145 @@ -145453,12 +143128,6 @@ phenylbutazone - - - - Beilstein:290080 - Beilstein - @@ -145764,7 +143433,6 @@ CHEBI:133410 CHEBI:659237 CHEBI:678172 - Beilstein:6312870 CAS:74-55-5 DrugBank:DB00330 Drug_Central:1073 @@ -145811,12 +143479,6 @@ ethambutol - - - - Beilstein:6312870 - Beilstein - @@ -146332,7 +143994,6 @@ 166.24448 166.05647 CCc1cc(ccn1)C(N)=S - Beilstein:116474 CAS:536-33-4 DrugBank:DB00609 Drug_Central:1083 @@ -146367,12 +144028,6 @@ ethionamide - - - - Beilstein:116474 - Beilstein - @@ -146948,7 +144603,6 @@ 166.13760 166.04908 Cn1cnc2[nH]c(=O)[nH]c(=O)c12 - Beilstein:171027 CAS:552-62-5 HMDB:HMDB0001991 KEGG:C16353 @@ -146969,12 +144623,6 @@ 7-methylxanthine - - - - Beilstein:171027 - Beilstein - @@ -147133,7 +144781,6 @@ 217.22252 217.10626 CC(=O)NC(CCCNC(N)=O)C(O)=O - Beilstein:2215792 PMID:4107635 Reaxys:2215792 2-acetamido-5-(carbamoylamino)pentanoic acid @@ -147144,12 +144791,6 @@ N-acetylcitrulline - - - - Beilstein:2215792 - Beilstein - @@ -147198,7 +144839,6 @@ 296.40336 296.17763 [H][C@]12CC[C@@]3(C)[C@@]([H])(CC[C@@]3(O)C#C)[C@]1([H])CCc1cc(O)ccc21 - Beilstein:2419975 CAS:57-63-6 DrugBank:DB00977 Drug_Central:1082 @@ -147225,12 +144865,6 @@ 17alpha-ethynylestradiol - - - - Beilstein:2419975 - ChemIDplus - @@ -147343,7 +144977,6 @@ 165.21178 165.04596 CS(=O)CCC(N)C(O)=O - Beilstein:2206690 CAS:62697-73-8 DrugBank:DB02235 HMDB:HMDB0002005 @@ -147358,12 +144991,6 @@ methionine S-oxide - - - - Beilstein:2206690 - Beilstein - @@ -147627,7 +145254,6 @@ 164.08373 COC1=CC(CC=C)=CC=C1O BPDB:2008 - Beilstein:1366759 CAS:97-53-0 Chemspider:13876103 Drug_Central:4648 @@ -147708,12 +145334,6 @@ eugenol - - - - Beilstein:1366759 - Beilstein - @@ -148898,7 +146518,6 @@ 134.45200 132.86730 Cl[Cu]Cl - Beilstein:8128168 CAS:7447-39-4 DrugBank:DB09131 Drug_Central:4530 @@ -148930,12 +146549,6 @@ copper(II) chloride - - - - Beilstein:8128168 - Beilstein - @@ -150813,7 +148426,6 @@ 469.13625 [C@H]12O[C@H]([C@@H]([C@@H]1OP(OC2)(=O)O)OC(=O)CCC)N3C=NC=4C(=NC=NC34)NC(=O)CCC CHEBI:143000 - Beilstein:871714 CAS:362-74-3 Drug_Central:415 KEGG:D07546 @@ -150856,12 +148468,6 @@ bucladesine - - - - Beilstein:871714 - Beilstein - @@ -151841,7 +149447,6 @@ 163.17852 163.10692 NCCN(CCN)N(O)N=O - Beilstein:8139626 CAS:146724-94-9 PMID:10471084 PMID:12924710 @@ -151861,12 +149466,6 @@ 1,1-bis(2-aminoethyl)-2-hydroxy-3-oxotriazane - - - - Beilstein:8139626 - Beilstein - @@ -152689,7 +150288,6 @@ 378.50236 378.24062 [H][C@@]12[C@H](O)[C@H](OC(C)=O)[C@@]3(C)O[C@](C)(CC(=O)[C@]3([H])[C@@]1(C)CCCC2(C)C)C=C - Beilstein:5304980 CAS:64657-18-7 LIPID_MAPS_instance:LMPR0104030009 PMID:16749796 @@ -152704,12 +150302,6 @@ 1,9-dideoxyforskolin - - - - Beilstein:5304980 - Beilstein - @@ -153888,7 +151480,6 @@ 152.17822 152.01567 S=c1[nH]cnc2nc[nH]c12 - Beilstein:132916 CAS:50-44-2 DrugBank:DB01033 KEGG:C02380 @@ -153926,12 +151517,6 @@ mercaptopurine - - - - Beilstein:132916 - Beilstein - @@ -154494,7 +152079,6 @@ [H][C@@]12Cc3c(ccc(O)c3C(=O)C1=C(O)[C@]1(O)C(=O)C(C(N)=O)=C(O)[C@@H](N(C)C)[C@]1([H])C2)N(C)C CHEBI:44053 CHEBI:6939 - Beilstein:3077644 CAS:10118-90-8 Chemspider:16735907 DrugBank:DB01017 @@ -154529,12 +152113,6 @@ minocycline - - - - Beilstein:3077644 - Beilstein - @@ -155261,7 +152839,6 @@ [H][C@@]12[C@@H](C)c3cccc(O)c3C(=O)C1=C(O)[C@]1(O)C(=O)C(C(N)=O)=C(O)[C@@H](N(C)C)[C@]1([H])[C@H]2O CHEBI:42135 CHEBI:4713 - Beilstein:3041790 CAS:564-25-0 Chemspider:10469369 DrugBank:DB00254 @@ -155313,12 +152890,6 @@ doxycycline - - - - Beilstein:3041790 - Beilstein - @@ -155912,7 +153483,6 @@ 289.15386 288.03200 CC(C)(Oc1ccc(cc1)C1CC1(Cl)Cl)C(O)=O - Beilstein:1984981 CAS:52214-84-3 Drug_Central:658 KEGG:D03521 @@ -155930,12 +153500,6 @@ ciprofibrate - - - - Beilstein:1984981 - ChemIDplus - @@ -156235,7 +153799,6 @@ 453.87200 453.05615 [H][C@]12SC(C)(C)[C@@H](N1C(=O)[C@H]2NC(=O)c1c(C)onc1-c1c(F)cccc1Cl)C(O)=O - Beilstein:4771988 CAS:5250-39-5 DrugBank:DB00301 Drug_Central:1183 @@ -156265,12 +153828,6 @@ flucloxacillin - - - - Beilstein:4771988 - Beilstein - @@ -156735,7 +154292,6 @@ 437.17487 OCCN1CCN(CCCN2c3ccccc3Sc3ccc(cc23)C(F)(F)F)CC1 Beilstein:1189506 - Beilstein:61643 CAS:69-23-8 DrugBank:DB00623 Drug_Central:1212 @@ -156784,12 +154340,6 @@ Beilstein:1189506 Beilstein - - - - Beilstein:61643 - Beilstein - @@ -157451,7 +155001,6 @@ 428.14712 [H][C@@]12CCC(=O)[C@@]1(C)C[C@@H](OC(C)=O)C1=C2C(=O)C2=C3C(=CO2)C(=O)O[C@H](COC)[C@]13C CHEBI:43674 - Beilstein:67676 CAS:19545-26-7 DrugBank:DB08059 HMDB:HMDB0259902 @@ -157483,12 +155032,6 @@ wortmannin - - - - Beilstein:67676 - Beilstein - @@ -158157,7 +155700,6 @@ 507.61790 507.26209 [H][C@]12[C@H](Cc3ccccc3)NC(=O)[C@]11[C@H](OC(C)=O)\C=C\[C@@](C)(O)C(=O)[C@@H](C)C\C=C\C1[C@H](O)C(=C)[C@H]2C - Beilstein:1632828 CAS:22144-77-0 PDBeChem:CY9 PMID:20010439 @@ -158179,12 +155721,6 @@ cytochalasin D - - - - Beilstein:1632828 - Beilstein - @@ -158375,7 +155911,6 @@ 186.09740 186.00768 [O-][N+](=O)c1ccc(F)c(c1)[N+]([O-])=O - Beilstein:398632 CAS:70-34-8 Gmelin:564641 MetaCyc:CPD-8983 @@ -158436,12 +155971,6 @@ 1-fluoro-2,4-dinitrobenzene - - - - Beilstein:398632 - Beilstein - @@ -158784,7 +156313,6 @@ Nc1ccc(cc1)\N=C1/C=C(N)\C(\C=C/1N)=N\c1ccc(N)cc1 Beilstein:11464709 Beilstein:2395527 - Beilstein:3038033 CAS:20048-27-5 PMID:10771133 PMID:11981821 @@ -158823,12 +156351,6 @@ Beilstein:2395527 Beilstein - - - - Beilstein:3038033 - Beilstein - @@ -159095,7 +156617,6 @@ 268.31300 CC(C)CCCC(C)CCCC(C)CCCC(C)C CHEBI:77511 - Beilstein:1720538 CAS:1921-70-6 MetaCyc:CPD-15252 PMID:21725847 @@ -159123,18 +156644,6 @@ pristane - - - - Beilstein:1720538 - Beilstein - - - - - Beilstein:1720538 - ChemIDplus - @@ -159275,7 +156784,6 @@ C58H114O26 1226.75977 1226.760 - Beilstein:8973037 CAS:9005-64-5 KEGG:C11624 KEGG:D05565 @@ -159295,12 +156803,6 @@ polysorbate 20 - - - - Beilstein:8973037 - Beilstein - @@ -159396,7 +156898,6 @@ C64H124O26 1308.83802 1308.838 - Beilstein:10149223 Beilstein:8476329 CAS:9005-67-8 KEGG:D05567 @@ -159418,12 +156919,6 @@ polysorbate 60 - - - - Beilstein:10149223 - Beilstein - @@ -159952,7 +157447,6 @@ 306.25588 CCCCC\C=C/C\C=C/C\C=C/CCCCCCC(O)=O CHEBI:43587 - Beilstein:1913514 CAS:1783-84-2 DrugBank:DB00154 HMDB:HMDB0002925 @@ -159990,12 +157484,6 @@ all-cis-icosa-8,11,14-trienoic acid - - - - Beilstein:1913514 - Beilstein - @@ -160314,7 +157802,6 @@ 353.08994 CC(=O)CC(c1ccc(cc1)[N+]([O-])=O)c1c(O)c2ccccc2oc1=O CHEBI:494206 - Beilstein:1269370 CAS:152-72-7 DrugBank:DB01418 KEGG:D07064 @@ -160346,12 +157833,6 @@ acenocoumarol - - - - Beilstein:1269370 - Beilstein - @@ -160849,7 +158330,6 @@ 246.15230 246.05045 OCC(O)COP(O)(=O)OCC(O)CO - Beilstein:1727736 CAS:6418-92-4 KEGG:C03274 Reaxys:1727736 @@ -160859,12 +158339,6 @@ glycerophosphoglycerol - - - - Beilstein:1727736 - Beilstein - @@ -161039,7 +158513,6 @@ 271.422 271.22787 C(CCCCCCCCCCO)CCCCC([O-])=O - Beilstein:7346679 Reaxys:7346679 16-hydroxyhexadecanoate chebi_ontology @@ -161048,12 +158521,6 @@ 16-hydroxyhexadecanoate - - - - Beilstein:7346679 - Beilstein - @@ -161312,8 +158779,8 @@ CC(C)C[C@@H](O)C([O-])=O Beilstein:5245806 (2R)-2-hydroxy-4-methylpentanoate - (R)-2-hydroxy-4-methylpentanoate chebi_ontology + (2R)-hydroxy-4-methylpentanoate (R)-2-hydroxy-4-methylvalerate CHEBI:55535 @@ -161334,8 +158801,8 @@ - - (R)-2-hydroxy-4-methylpentanoate + + (2R)-hydroxy-4-methylpentanoate UniProt @@ -161466,7 +158933,6 @@ 375.86400 375.14013 OC1(CCN(CCCC(=O)c2ccc(F)cc2)CC1)c1ccc(Cl)cc1 - Beilstein:331267 CAS:52-86-8 DrugBank:DB00502 Drug_Central:1353 @@ -161498,12 +158964,6 @@ haloperidol - - - - Beilstein:331267 - Beilstein - @@ -161800,7 +159260,6 @@ 284.78040 281.81312 Clc1c(Cl)c(Cl)c(Cl)c(Cl)c1Cl - Beilstein:1912585 CAS:118-74-1 Gmelin:27278 HMDB:HMDB0032566 @@ -161832,12 +159291,6 @@ hexachlorobenzene - - - - Beilstein:1912585 - Beilstein - @@ -162531,7 +159984,6 @@ 374.90406 374.17611 OCCOCCN1CCN(CC1)C(c1ccccc1)c1ccc(Cl)cc1 - Beilstein:321392 CAS:68-88-2 DrugBank:DB00557 Drug_Central:1400 @@ -162562,12 +160014,6 @@ hydroxyzine - - - - Beilstein:321392 - Beilstein - @@ -163034,7 +160480,6 @@ 206.28082 206.13068 CC(C)Cc1ccc(cc1)C(C)C(O)=O - Beilstein:2049713 CAS:15687-27-1 DrugBank:DB01050 Drug_Central:1407 @@ -163122,12 +160567,6 @@ ibuprofen - - - - Beilstein:2049713 - ChemIDplus - @@ -163762,7 +161201,6 @@ 255.66100 255.05230 [O-][N+](=O)N=C1NCCN1Cc1ccc(Cl)nc1 - Beilstein:5444268 CAS:105827-78-9 CAS:138261-41-3 KEGG:C11110 @@ -163843,12 +161281,6 @@ imidacloprid - - - - Beilstein:5444268 - Beilstein - @@ -164829,7 +162261,6 @@ 241.11749 [H][C@@]1(CNc2nc(N)[nH]c(=O)c2N1)[C@@H](O)[C@H](C)O CHEBI:64242 - Beilstein:4699705 CAS:17528-72-2 CAS:27070-47-9 DrugBank:DB00360 @@ -164887,12 +162318,6 @@ sapropterin - - - - Beilstein:4699705 - Beilstein - @@ -165191,7 +162616,6 @@ 323.85900 323.14408 Cl.CN1CCC(CC1)=C1c2ccccc2C=Cc2ccccc12 - Beilstein:3575322 CAS:969-33-5 Reaxys:3575322 VSDB:2970 @@ -165206,12 +162630,6 @@ cyproheptadine hydrochloride (anhydrous) - - - - Beilstein:3575322 - Beilstein - @@ -165616,7 +163034,6 @@ 137.13930 137.05891 NNC(=O)c1ccncc1 - Beilstein:119374 CAS:54-85-3 DrugBank:DB00951 Drug_Central:1497 @@ -165646,12 +163063,6 @@ isoniazide - - - - Beilstein:119374 - Beilstein - @@ -166019,7 +163430,6 @@ 300.43512 300.20893 CC(\C=C\C1=C(C)CCCC1(C)C)=C/C=C/C(C)=C\C(O)=O - Beilstein:1885770 CAS:4759-48-2 DrugBank:DB00982 Drug_Central:1508 @@ -166059,12 +163469,6 @@ isotretinoin - - - - Beilstein:1885770 - Beilstein - @@ -167575,7 +164979,6 @@ 101.04768 [H][C@]1(CCN1)C(O)=O Beilstein:3648544 - Beilstein:80678 CAS:2133-34-8 KEGG:C08267 KNApSAcK:C00001343 @@ -167599,12 +165002,6 @@ Beilstein:3648544 Beilstein - - - - Beilstein:80678 - Beilstein - @@ -168880,7 +166277,6 @@ C19H24N2O3 328.412 328.17869 - Beilstein:2948416 CAS:36894-69-6 DrugBank:DB00598 Drug_Central:1531 @@ -168920,12 +166316,6 @@ labetalol - - - - Beilstein:2948416 - Beilstein - @@ -175163,7 +172553,6 @@ 90.12100 90.06808 CC(C)(C)OO - Beilstein:1098280 CAS:75-91-2 PMID:21418283 PMID:22037478 @@ -175188,12 +172577,6 @@ tert-butyl hydroperoxide - - - - Beilstein:1098280 - ChemIDplus - @@ -178680,7 +176063,6 @@ 351.43880 351.18344 CC1(C)CCC(C)(C)c2cc(ccc12)C(=O)Nc1ccc(cc1)C(O)=O - Beilstein:3565084 CAS:102121-60-8 KEGG:C15619 LINCS:LSM-2132 @@ -178708,12 +176090,6 @@ 4-{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino}benzoic acid - - - - Beilstein:3565084 - ChemIDplus - @@ -179435,7 +176811,6 @@ 196.19990 196.07356 C[C@]12[C@@H]3CC[C@@H](O3)[C@@]1(C)C(=O)OC2=O - Beilstein:85302 CAS:56-25-7 KEGG:C16778 KNApSAcK:C00010979 @@ -179463,12 +176838,6 @@ cantharidin - - - - Beilstein:85302 - ChemIDplus - @@ -184127,7 +181496,6 @@ 422.91100 422.16219 CCCCc1nc(Cl)c(CO)n1Cc1ccc(cc1)-c1ccccc1-c1nnn[nH]1 - Beilstein:4770867 CAS:114798-26-4 DrugBank:DB00678 Drug_Central:1610 @@ -184162,12 +181530,6 @@ losartan - - - - Beilstein:4770867 - Beilstein - @@ -184602,7 +181964,6 @@ A racemate comprising equimolar amounts of (R) and (S)-malathion. It is a broad spectrum organophosphate proinsecticide used to control a wide range of pests including Coleoptera, Diptera, fruit flies, mosquitos and spider mites. - Beilstein:1804525 CAS:121-75-5 DrugBank:DB00772 Drug_Central:1626 @@ -184636,12 +181997,6 @@ malathion - - - - Beilstein:1804525 - ChemIDplus - @@ -186569,7 +183924,6 @@ 153.13540 153.04259 Nc1ccc(O)c(c1)C(O)=O - Beilstein:2090421 CAS:89-57-6 DrugBank:DB00244 Drug_Central:1710 @@ -186612,12 +183966,6 @@ mesalamine - - - - Beilstein:2090421 - Beilstein - @@ -187223,7 +184571,6 @@ 149.23284 149.12045 CN[C@@H](C)Cc1ccccc1 - Beilstein:2207147 CAS:537-46-2 DrugBank:DB01577 Drug_Central:1732 @@ -187286,12 +184633,6 @@ methamphetamine - - - - Beilstein:2207147 - Beilstein - @@ -187629,7 +184970,6 @@ 261.38688 261.12997 CN(C)CCN(Cc1cccs1)c1ccccn1 - Beilstein:220729 CAS:91-80-5 DrugBank:DB04819 Drug_Central:1738 @@ -187666,12 +185006,6 @@ methapyrilene - - - - Beilstein:220729 - Beilstein - @@ -188696,7 +186030,6 @@ 374.47060 374.20932 C[C@H]1C[C@H]2[C@@H]3CC[C@](O)(C(=O)CO)[C@@]3(C)C[C@H](O)[C@@H]2[C@@]2(C)C=CC(=O)C=C12 - Beilstein:2340300 CAS:83-43-2 DrugBank:DB00959 Drug_Central:1768 @@ -188727,12 +186060,6 @@ 6alpha-methylprednisolone - - - - Beilstein:2340300 - Beilstein - @@ -189003,7 +186330,6 @@ Cc1ncc(n1CCO)[N+]([O-])=O CHEBI:39845 CHEBI:63636 - Beilstein:611683 CAS:443-48-1 DrugBank:DB00916 Drug_Central:1790 @@ -189041,12 +186367,6 @@ metronidazole - - - - Beilstein:611683 - Beilstein - @@ -190755,7 +188075,6 @@ 545.62130 545.26248 [H][C@@]12[C@H](OC(=O)[C@@](O)(CCCC(C)(C)O)CC(=O)OC)C(OC)=C[C@@]11CCCN1CCc1cc3OCOc3cc21 - Beilstein:5687925 CAS:26833-87-4 Drug_Central:4677 KEGG:D08956 @@ -190805,12 +188124,6 @@ omacetaxine mepesuccinate - - - - Beilstein:5687925 - ChemIDplus - @@ -196836,7 +194149,6 @@ 59.03711 [H]C(=O)NC CHEBI:105684 - Beilstein:1098352 CAS:123-39-7 Gmelin:917 HMDB:HMDB0001122 @@ -196859,12 +194171,6 @@ N-methylformamide - - - - Beilstein:1098352 - Beilstein - @@ -197250,7 +194556,6 @@ 274.39780 274.19328 [H][C@]12CCC(=O)C=C1CC[C@]1([H])[C@]2([H])CC[C@]2(C)[C@@H](O)CC[C@@]12[H] - Beilstein:2055849 Beilstein:4690380 CAS:434-22-0 DrugBank:DB00984 @@ -197280,12 +194585,6 @@ nandrolone - - - - Beilstein:2055849 - Beilstein - @@ -201693,7 +198992,6 @@ 403.820 403.08227 C[C@@H]1CC2=C(Cl)C=C(C(=O)N[C@@H](CC3=CC=CC=C3)C(O)=O)C(O)=C2C(=O)O1 - Beilstein:1301486 CAS:303-47-9 HMDB:HMDB0029399 KEGG:C09955 @@ -201743,12 +199041,6 @@ ochratoxin A - - - - Beilstein:1301486 - Beilstein - @@ -202322,7 +199614,6 @@ A racemate comprising equimolar amounts of (R)- and (S)-omeprazole. - Beilstein:3628192 CAS:73590-58-6 DrugBank:DB00338 KEGG:C07324 @@ -202434,12 +199725,6 @@ omeprazole - - - - Beilstein:3628192 - Beilstein - @@ -203196,7 +200481,6 @@ 312.20491 CCOC(=O)C1=C[C@@H](OC(CC)CC)[C@H](NC(C)=O)[C@@H](N)C1 CHEBI:42582 - Beilstein:8003908 CAS:196618-13-0 DrugBank:DB00198 Drug_Central:2001 @@ -203232,12 +200516,6 @@ oseltamivir - - - - Beilstein:8003908 - Beilstein - @@ -204108,7 +201386,6 @@ 255.23295 CCCCCCCCCCCCCCCC([O-])=O CHEBI:231736 - Beilstein:3589907 CAS:143-20-4 Gmelin:344266 HMDB:HMDB0000220 @@ -204129,12 +201406,6 @@ hexadecanoate - - - - Beilstein:3589907 - Beilstein - @@ -204278,7 +201549,6 @@ 219.23502 219.11067 CC(C)(CO)C(O)C(=O)NCCC(O)=O - Beilstein:1727062 CAS:599-54-2 DrugBank:DB01783 HMDB:HMDB0000210 @@ -204295,12 +201565,6 @@ pantothenic acid - - - - Beilstein:1727062 - Beilstein - @@ -204354,7 +201618,6 @@ 329.36540 329.14272 [H][C@]1(CCNC[C@H]1COc1ccc2OCOc2c1)c1ccc(F)cc1 - Beilstein:7467879 CAS:61869-08-7 DrugBank:DB00715 Drug_Central:2068 @@ -204452,12 +201715,6 @@ paroxetine - - - - Beilstein:7467879 - Beilstein - @@ -205006,7 +202263,6 @@ 248.31750 248.14124 [H][C@@]12CC\C(C)=C\CC[C@@]3(C)O[C@]3([H])[C@@]1([H])OC(=O)C2=C - Beilstein:3550011 CAS:20554-84-1 KEGG:C07609 KNApSAcK:C00003345 @@ -205050,12 +202306,6 @@ parthenolide - - - - Beilstein:3550011 - Beilstein - @@ -205290,7 +202540,6 @@ 149.05105 CC(C)(S)[C@@H](N)C(O)=O CHEBI:469179 - Beilstein:1722375 CAS:52-67-5 DrugBank:DB00859 Drug_Central:2081 @@ -205336,12 +202585,6 @@ D-penicillamine - - - - Beilstein:1722375 - Beilstein - @@ -205823,7 +203066,6 @@ 403.96946 403.14851 OCCN1CCN(CCCN2c3ccccc3Sc3ccc(Cl)cc23)CC1 - Beilstein:54730 CAS:58-39-9 DrugBank:DB00850 Drug_Central:2113 @@ -205859,12 +203101,6 @@ perphenazine - - - - Beilstein:54730 - Beilstein - @@ -206626,7 +203862,6 @@ 232.08479 CCC1(C(=O)NC(=O)NC1=O)c1ccccc1 CHEBI:102217 - Beilstein:233363 CAS:50-06-6 DrugBank:DB01174 Drug_Central:2134 @@ -206712,12 +203947,6 @@ phenobarbital - - - - Beilstein:233363 - Beilstein - @@ -207631,7 +204860,6 @@ 252.08988 O=C1NC(=O)C(N1)(c1ccccc1)c1ccccc1 CHEBI:100921 - Beilstein:384532 CAS:57-41-0 DrugBank:DB00252 Drug_Central:2152 @@ -207665,12 +204893,6 @@ phenytoin - - - - Beilstein:384532 - Beilstein - @@ -208036,7 +205258,6 @@ 461.54620 461.22787 Fc1ccc(cc1)C(CCCN1CCC(CC1)n1c2ccccc2[nH]c1=O)c1ccc(F)cc1 - Beilstein:729089 CAS:2062-78-4 DrugBank:DB01100 Drug_Central:2172 @@ -208061,12 +205282,6 @@ pimozide - - - - Beilstein:729089 - Beilstein - @@ -208188,7 +205403,6 @@ 356.43978 356.11946 CCc1ccc(CCOc2ccc(CC3SC(=O)NC3=O)cc2)nc1 - Beilstein:3595485 CAS:111025-46-8 Chemspider:4663 DrugBank:DB01132 @@ -208224,12 +205438,6 @@ pioglitazone - - - - Beilstein:3595485 - Beilstein - @@ -210618,7 +207826,6 @@ 383.40110 383.15935 COc1cc2nc(nc(N)c2cc1OC)N1CCN(CC1)C(=O)c1ccco1 - Beilstein:768345 CAS:19216-56-9 DrugBank:DB00457 Drug_Central:4209 @@ -210644,12 +207851,6 @@ prazosin - - - - Beilstein:768345 - Beilstein - @@ -210744,7 +207945,6 @@ 360.44400 360.19367 [H][C@@]12CCC3=CC(=O)C=C[C@]3(C)[C@@]1([H])[C@@H](O)C[C@@]1(C)[C@@]2([H])CC[C@]1(O)C(=O)CO - Beilstein:1354103 CAS:50-24-8 DrugBank:DB00860 Drug_Central:2245 @@ -210775,12 +207975,6 @@ prednisolone - - - - Beilstein:1354103 - ChemIDplus - @@ -211050,7 +208244,6 @@ 373.13795 CN1CCN(CCCN2c3ccccc3Sc3ccc(Cl)cc23)CC1 CHEBI:59073 - Beilstein:48537 CAS:58-38-8 DrugBank:DB00433 Drug_Central:2274 @@ -211087,12 +208280,6 @@ prochlorperazine - - - - Beilstein:48537 - Beilstein - @@ -211684,7 +208871,6 @@ 284.42018 284.13472 CC(CN1c2ccccc2Sc2ccccc12)N(C)C - Beilstein:88554 CAS:60-87-7 DrugBank:DB01069 Drug_Central:2286 @@ -211713,12 +208899,6 @@ promethazine - - - - Beilstein:88554 - Beilstein - @@ -212498,7 +209678,6 @@ 170.23200 170.05138 CCCc1cc(=O)[nH]c(=S)[nH]1 - Beilstein:130039 CAS:51-52-5 DrugBank:DB00550 Drug_Central:2308 @@ -212553,12 +209732,6 @@ 6-propyl-2-thiouracil - - - - Beilstein:130039 - Beilstein - @@ -216516,7 +213689,6 @@ 314.40400 314.14126 CN\C(NCCSCc1ccc(CN(C)C)o1)=C/[N+]([O-])=O - Beilstein:4327819 CAS:66357-35-5 DrugBank:DB00863 HMDB:HMDB0001930 @@ -216536,12 +213708,6 @@ ranitidine - - - - Beilstein:4327819 - Beilstein - @@ -216919,7 +214085,6 @@ 410.48450 410.21180 Cc1nc2CCCCn2c(=O)c1CCN1CCC(CC1)c1noc2cc(F)ccc12 - Beilstein:4891881 CAS:106266-06-2 DrugBank:DB00734 Drug_Central:2389 @@ -216956,12 +214121,6 @@ risperidone - - - - Beilstein:4891881 - Beilstein - @@ -217517,7 +214676,6 @@ 314.35600 314.06128 CS(=O)(=O)c1ccc(cc1)C1=C(C(=O)OC1)c1ccccc1 - Beilstein:8269007 CAS:162011-90-7 DrugBank:DB00533 Drug_Central:2397 @@ -217545,12 +214703,6 @@ rofecoxib - - - - Beilstein:8269007 - Beilstein - @@ -220479,7 +217631,6 @@ 265.22072 265.09100 CN(N=O)C(=O)N[C@H]1[C@@H](O)O[C@H](CO)[C@@H](O)[C@@H]1O - Beilstein:2060675 CAS:18883-66-4 DrugBank:DB00428 HMDB:HMDB0014572 @@ -220517,12 +217668,6 @@ streptozocin - - - - Beilstein:2060675 - Beilstein - @@ -220682,7 +217827,6 @@ 174.19436 174.08921 OC(=O)CCCCCCC(O)=O - Beilstein:1210161 CAS:505-48-6 HMDB:HMDB0000893 KEGG:C08278 @@ -220710,12 +217854,6 @@ suberic acid - - - - Beilstein:1210161 - Beilstein - @@ -220841,7 +217979,6 @@ 99.08800 99.03203 O=C1CCC(=O)N1 - Beilstein:108440 CAS:123-56-8 Chemspider:10955 DrugBank:DB13376 @@ -220876,12 +218013,6 @@ succinimide - - - - Beilstein:108440 - Beilstein - @@ -221051,7 +218182,6 @@ OC(=O)c1cc(ccc1O)\N=N\c1ccc(cc1)S(=O)(=O)Nc1ccccn1 CHEBI:101223 Beilstein:356241 - Beilstein:8132868 CAS:599-79-1 DrugBank:DB00795 Gmelin:2666050 @@ -221096,12 +218226,6 @@ Beilstein:356241 Beilstein - - - - Beilstein:8132868 - Beilstein - @@ -221407,7 +218531,6 @@ 356.41158 356.08824 CC1=C(CC(O)=O)c2cc(F)ccc2C\1=C/c1ccc(cc1)S(C)=O - Beilstein:2951842 CAS:38194-50-2 DrugBank:DB00605 Drug_Central:2534 @@ -221441,12 +218564,6 @@ sulindac - - - - Beilstein:2951842 - Beilstein - @@ -222362,7 +219479,6 @@ [H][C@@]1(OC(=O)C(\C)=C/C)[C@@H](OC(=O)CCCCCCC)[C@@]2([H])C(=C1C)[C@]1([H])OC(=O)[C@@](C)(O)[C@@]1(O)[C@H](C[C@]2(C)OC(C)=O)OC(=O)CCC CHEBI:363811 CHEBI:45970 - Beilstein:4649293 CAS:67526-95-8 KEGG:C09561 KNApSAcK:C00003375 @@ -222387,12 +219503,6 @@ thapsigargin - - - - Beilstein:4649293 - Beilstein - @@ -222500,7 +219610,6 @@ 370.57500 370.15374 CSc1ccc2Sc3ccccc3N(CCC3CCCCN3C)c2c1 - Beilstein:94457 CAS:50-52-2 DrugBank:DB00679 Drug_Central:2637 @@ -222543,12 +219652,6 @@ thioridazine - - - - Beilstein:94457 - Beilstein - @@ -222868,7 +219971,6 @@ 415.65174 415.34503 [H][C@@]12CC[C@]3([H])[C@]([H])(CC[C@@]4(C)[C@@]3([H])C[C@]3([H])O[C@@]5(CC[C@H](C)CN5)[C@@H](C)[C@]43[H])[C@@]1(C)CC[C@H](O)C2 - Beilstein:91747 CAS:77-59-8 KEGG:C10826 KNApSAcK:C00002267 @@ -222888,12 +219990,6 @@ tomatidine - - - - Beilstein:91747 - Beilstein - @@ -222989,7 +220085,6 @@ 1034.18816 1033.54576 [H][C@@]12CC[C@]3([H])[C@]([H])(CC[C@@]4(C)[C@@]3([H])C[C@]3([H])O[C@@]5(CC[C@H](C)CN5)[C@@H](C)[C@]43[H])[C@@]1(C)CC[C@@H](C2)O[C@@H]1O[C@H](CO)[C@H](O[C@@H]2O[C@H](CO)[C@@H](O)[C@H](O[C@@H]3OC[C@@H](O)[C@H](O)[C@H]3O)[C@H]2O[C@@H]2O[C@H](CO)[C@@H](O)[C@H](O)[C@H]2O)[C@H](O)[C@H]1O - Beilstein:78250 CAS:17406-45-0 HMDB:HMDB0034103 KEGG:C10827 @@ -223018,12 +220113,6 @@ tomatine - - - - Beilstein:78250 - Beilstein - @@ -223778,7 +220867,6 @@ 435.51896 435.22704 CCCCC(=O)N(Cc1ccc(cc1)-c1ccccc1-c1nnn[nH]1)[C@@H](C(C)C)C(O)=O - Beilstein:7754038 CAS:137862-53-4 DrugBank:DB00177 Drug_Central:2806 @@ -223800,12 +220888,6 @@ valsartan - - - - Beilstein:7754038 - Beilstein - @@ -223877,7 +220959,6 @@ 277.40182 277.20418 COc1ccc(cc1)C(CN(C)C)C1(O)CCCCC1 - Beilstein:4234848 CAS:93413-69-5 DrugBank:DB00285 Drug_Central:2813 @@ -223901,12 +220982,6 @@ venlafaxine - - - - Beilstein:4234848 - Beilstein - @@ -224008,7 +221083,6 @@ C27H38N2O4 454.60160 454.28316 - Beilstein:2825000 CAS:52-53-9 DrugBank:DB00661 HMDB:HMDB0001850 @@ -224049,12 +221123,6 @@ verapamil - - - - Beilstein:2825000 - Beilstein - diff --git a/src/ontology/imports/fbbt_import.owl b/src/ontology/imports/fbbt_import.owl index a2bb9c45..40a1bb61 100644 --- a/src/ontology/imports/fbbt_import.owl +++ b/src/ontology/imports/fbbt_import.owl @@ -111,15 +111,11 @@ a core relation that holds between a part and its whole - BFO:0000050 - quality - part_of part of - part_of @@ -2591,7 +2587,7 @@ - Anlage in statu nascendi in the blastoderm embryo that will give rise to the embryonic hypopharynx. + Anlage in statu nascendi in the blastoderm embryo that will give rise to the hypopharynx anlage. Asn HyPh fly_anatomy.ontology FBbt:00016000 @@ -2602,7 +2598,7 @@ - Anlage in statu nascendi in the blastoderm embryo that will give rise to the embryonic hypopharynx. + Anlage in statu nascendi in the blastoderm embryo that will give rise to the hypopharynx anlage. FBC:VH diff --git a/src/ontology/imports/go_import.owl b/src/ontology/imports/go_import.owl index 5ee0f198..86701fdc 100644 --- a/src/ontology/imports/go_import.owl +++ b/src/ontology/imports/go_import.owl @@ -47,12 +47,6 @@ - - - - - - @@ -589,7 +583,6 @@ Any process involved in the development or functioning of the immune system, an organismal system for calibrated responses to potential internal or invasive threats. - Wikipedia:Immune_system biological_process GO:0002376 @@ -1177,7 +1170,8 @@ - Catalysis of the hydrolysis of alpha-L-iduronosidic linkages in dermatan sulfate. + Catalysis of the hydrolysis of alpha-L-iduronosidic linkages in dermatan sulfate. Can also hydrolyze alpha-L-iduronosidic linkages in heparan sulfate. + https://github.com/geneontology/go-ontology/issues/28907 EC:3.2.1.76 MetaCyc:3.2.1.76-RXN Reactome:R-HSA-1678716 @@ -1195,8 +1189,9 @@ - Catalysis of the hydrolysis of alpha-L-iduronosidic linkages in dermatan sulfate. + Catalysis of the hydrolysis of alpha-L-iduronosidic linkages in dermatan sulfate. Can also hydrolyze alpha-L-iduronosidic linkages in heparan sulfate. EC:3.2.1.76 + PMID:35011691 @@ -1333,7 +1328,6 @@ Catalysis of the reaction: adenosine + H2O = inosine + NH3. - EC:3.5.4.4 MetaCyc:ADENODEAMIN-RXN RHEA:24408 Reactome:R-HSA-5693346 @@ -1950,6 +1944,7 @@ Reactome:R-HSA-9829200 Reactome:R-HSA-9830805 Reactome:R-HSA-9830882 + Reactome:R-HSA-9839367 molecular_function blood coagulation factor activity serine elastase activity @@ -2058,7 +2053,7 @@ Reactome:R-HSA-1454843 - E-cadherin degradation by MMP3, MMP7 and plasmin. + E-cadherin degradation by MMP3, MMP7 and plasmin @@ -3044,6 +3039,12 @@ Reactome:R-HSA-9830882 Nascent G signal peptide is cleaved at ER membrane + + + + Reactome:R-HSA-9839367 + TGFBR3_mem cleavage by MMPs + @@ -4033,6 +4034,7 @@ RHEA:13589 Reactome:R-HSA-508308 Reactome:R-HSA-70773 + Reactome:R-HSA-9909466 MCCC activity molecular_function 3-methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming) @@ -4055,7 +4057,7 @@ Reactome:R-HSA-508308 - beta-methylglutaconyl-CoA + ADP + orthophosphate + H2O <=> beta-methylcrotonyl-CoA + ATP + CO2 [MCCA] + beta-methylglutaconyl-CoA + ADP + orthophosphate <=> beta-methylcrotonyl-CoA + ATP + CO2 (MCCA) @@ -4063,6 +4065,12 @@ Reactome:R-HSA-70773 beta-methylcrotonyl-CoA + ATP + CO2 <=> beta-methylglutaconyl-CoA + ADP + orthophosphate + H2O [MCCA] + + + + Reactome:R-HSA-9909466 + MCCC mutants don't synthesize beta-methylglutaconyl-CoA + @@ -4116,8 +4124,6 @@ EC:1.14.14.16 MetaCyc:STEROID-21-MONOOXYGENASE-RXN RHEA:65612 - Reactome:R-HSA-193964 - Reactome:R-HSA-193981 Reactome:R-HSA-5601976 steroid 21-hydroxylase activity cytochrome P450 CYP21A1 @@ -4134,18 +4140,6 @@ Catalysis of the reaction: A C(21) steroid + [reduced NADPH--hemoprotein reductase] + O2 = a 21-hydroxy-C(21)-steroid + [oxidized NADPH--hemoprotein reductase] + H2O. RHEA:65612 - - - - Reactome:R-HSA-193964 - CYP21A2 21-hydroxylates PROG - - - - - Reactome:R-HSA-193981 - CYP21A2 oxidises 17HPROG - @@ -4664,7 +4658,6 @@ https://github.com/geneontology/go-ontology/issues/28526 EC:3.2.1.23 MetaCyc:3.2.1.23-RXN - MetaCyc:BGALACT-PWY Reactome:R-HSA-1605624 Reactome:R-HSA-1606312 Reactome:R-HSA-1630306 @@ -5126,7 +5119,6 @@ EC:2.7.6.1 KEGG_REACTION:R01049 MetaCyc:PRPPSYN-RXN - MetaCyc:PWY0-662 RHEA:15609 Reactome:R-HSA-111215 Reactome:R-HSA-73580 @@ -5300,7 +5292,7 @@ Reactome:R-HSA-1497869 - Salvage - Sepiapterin is reduced to BH2 + Salvage - Sepiapterin is reduced to q-BH2 @@ -5521,7 +5513,7 @@ - An cation channel that opens in response to binding by extracellular glutmate, but only if glycine is also bound and the membrane is depolarized. Voltage gating is indirect, due to ejection of bound magnesium from the pore at permissive voltages. + A cation channel that opens in response to binding by extracellular glutmate, but only if glycine or D-serine is also bound and the membrane is depolarized. Voltage gating is indirect, due to ejection of bound magnesium from the pore at permissive voltages. Wikipedia:NMDA_receptor N-methyl-D-aspartate selective glutamate receptor activity NMDA receptor @@ -5533,9 +5525,10 @@ - An cation channel that opens in response to binding by extracellular glutmate, but only if glycine is also bound and the membrane is depolarized. Voltage gating is indirect, due to ejection of bound magnesium from the pore at permissive voltages. + A cation channel that opens in response to binding by extracellular glutmate, but only if glycine or D-serine is also bound and the membrane is depolarized. Voltage gating is indirect, due to ejection of bound magnesium from the pore at permissive voltages. GOC:mah PMID:10049997 + PMID:7790891 @@ -5681,6 +5674,7 @@ Enables the energy-independent facilitated diffusion of a calcium ion through a transmembrane aqueous pore or channel. + https://github.com/geneontology/go-ontology/issues/27521 Reactome:R-HSA-139854 Reactome:R-HSA-139855 Reactome:R-HSA-210420 @@ -5688,6 +5682,7 @@ Reactome:R-HSA-8949145 Reactome:R-HSA-8949178 Reactome:R-HSA-9663785 + Reactome:R-HSA-9858800 molecular_function GO:0005262 calcium channel activity @@ -5742,6 +5737,12 @@ Reactome:R-HSA-9663785 CHRNA9:CHRNA10:AcCho transports Ca2+ from the extracellular region to the cytosol + + + + Reactome:R-HSA-9858800 + TRPV4 tetramer:CALM1:Ca2+ transports calcium ions (Ca2+) from the extracellular region to the cytosol + @@ -6361,7 +6362,6 @@ A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. - NIF_Subcellular:sao585356902 Wikipedia:Lysosome cellular_component @@ -6857,12 +6857,6 @@ A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. - - - - - - GO:0072372 FMA:67181 NIF_Subcellular:sao787716553 @@ -7048,7 +7042,6 @@ - The chemical reactions and pathways involving organic acids, any acidic compound containing carbon in covalent linkage. organic acid metabolism biological_process @@ -7092,7 +7085,7 @@ - + The chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and any process involved in the liberation of energy from these substances. energy pathways biological_process @@ -7137,7 +7130,7 @@ The formation of glucose from noncarbohydrate precursors, such as pyruvate, amino acids and glycerol. - MetaCyc:GLUCONEO-PWY + https://github.com/geneontology/go-ontology/issues/28953 Wikipedia:Gluconeogenesis glucose biosynthesis glucose biosynthetic process @@ -7571,11 +7564,7 @@ A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of peptidyl-serine, peptidyl-threonine, peptidyl-hydroxylysine, or peptidyl-hydroxyproline, or via the phenol group of peptidyl-tyrosine, forming an O-glycan. GOC:pr ISBN:0879695595 - RESID:AA0153 - RESID:AA0154 - RESID:AA0155 - RESID:AA0157 - RESID:AA0212 + PMID:33775405 @@ -7593,8 +7582,6 @@ - - @@ -7790,7 +7777,6 @@ - The chemical reactions and pathways resulting in the formation of L-serine, the L-enantiomer of serine, i.e. (2S)-2-amino-3-hydroxypropanoic acid. MetaCyc:SERSYN-PWY L-serine anabolism @@ -7862,7 +7848,6 @@ - The chemical reactions and pathways resulting in the breakdown of tyrosine, an aromatic amino acid, 2-amino-3-(4-hydroxyphenyl)propanoic acid. tyrosine breakdown tyrosine catabolism @@ -7926,7 +7911,7 @@ - + The chemical reactions and pathways involving creatine (N-(aminoiminomethyl)-N-methylglycine), a compound synthesized from the amino acids arginine, glycine, and methionine that occurs in muscle. creatine metabolism biological_process @@ -7950,8 +7935,6 @@ - - The chemical reactions and pathways resulting in the formation of creatine, N-[amino(imino)methyl]-N-methylglycine. Creatine is formed by a process beginning with amidino group transfer from L-arginine to glycine to form guanidinoacetate, followed by methyl group transfer from S-adenosyl-L-methionine to guanidinoacetate; it is then is phosphorylated to form a pool that stores high energy phosphate for the replenishment of ATP during periods of high, or fluctuating energy demand. In animals, most creatine is transported to and used in muscle. creatine anabolism creatine biosynthesis @@ -8012,8 +7995,8 @@ - The chemical reactions and pathways involving fatty acids, aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis. + https://github.com/geneontology/go-ontology/issues/28908 Wikipedia:Fatty_acid_metabolism fatty acid metabolism biological_process @@ -8033,7 +8016,6 @@ - The chemical reactions and pathways involving sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid). sphingolipid metabolism biological_process @@ -8109,7 +8091,6 @@ - The chemical reactions and pathways resulting in the formation of bile acids, any of a group of steroid carboxylic acids occurring in bile. bile acid anabolism bile acid biosynthesis @@ -8180,8 +8161,6 @@ - - The chemical reactions and pathways resulting in the formation of ubiquinone, a lipid-soluble electron-transporting coenzyme. MetaCyc:UBISYN-PWY coenzyme Q biosynthesis @@ -8218,7 +8197,6 @@ - The chemical reactions and pathways involving glutathione, the tripeptide glutamylcysteinylglycine, which acts as a coenzyme for some enzymes and as an antioxidant in the protection of sulfhydryl groups in enzymes and other proteins; it has a specific role in the reduction of hydrogen peroxide (H2O2) and oxidized ascorbate, and it participates in the gamma-glutamyl cycle. glutathione metabolism oxidized glutathione reduction @@ -8368,7 +8346,6 @@ - The chemical reactions and pathways involving any of the vitamin A compounds, retinol, retinal (retinaldehyde) and retinoic acid, all of which are derivatives of beta-carotene. vitamin A metabolism biological_process @@ -8410,7 +8387,7 @@ - + The chemical reactions and pathways involving the nonmetallic element sulfur or compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione. Wikipedia:Sulfur_metabolism sulfur metabolism @@ -8438,7 +8415,7 @@ - + The chemical reactions and pathways involving the nonmetallic element phosphorus or compounds that contain phosphorus. phosphorus metabolism biological_process @@ -8626,7 +8603,6 @@ A vesicle-mediated transport process that results in the engulfment of external particulate material by phagocytes and their delivery to the lysosome. The particles are initially contained within phagocytic vacuoles (phagosomes), which then fuse with primary lysosomes to effect digestion of the particles. https://github.com/geneontology/go-ontology/issues/24907 - Wikipedia:Phagocytosis biological_process GO:0006909 @@ -8673,8 +8649,6 @@ A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. - - GO:0006917 GO:0008632 cell suicide @@ -8922,7 +8896,6 @@ The directed movement of substances into, out of or within a lysosome. - biological_process GO:0007041 lysosomal transport @@ -9936,20 +9909,17 @@ - - The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation. + + A cellular process consisting of the biochemical pathways by which a living organism transforms chemical substances. This includes including anabolism (biosynthetic process) and catabolism (catabolic process). Metabolic processes includes the transformation of small molecules, as well macromolecular processes such as DNA repair and replication, protein synthesis and degradation. https://github.com/geneontology/go-ontology/issues/26424 + https://github.com/geneontology/go-ontology/issues/28932 jl 2012-10-17T15:46:40Z GO:0044236 GO:0044710 Wikipedia:Metabolism metabolism - metabolic process resulting in cell growth - metabolism resulting in cell growth - multicellular organism metabolic process biological_process - single-organism metabolic process GO:0008152 @@ -9964,7 +9934,7 @@ - The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation. + A cellular process consisting of the biochemical pathways by which a living organism transforms chemical substances. This includes including anabolism (biosynthetic process) and catabolism (catabolic process). Metabolic processes includes the transformation of small molecules, as well macromolecular processes such as DNA repair and replication, protein synthesis and degradation. GOC:go_curators ISBN:0198547684 @@ -9997,8 +9967,6 @@ The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues. - - cholesterol metabolism biological_process GO:0008203 @@ -10046,9 +10014,7 @@ https://github.com/geneontology/go-ontology/issues/19681 https://github.com/geneontology/go-ontology/issues/28514 EC:3.4.14.10 - EC:3.4.14.9 MetaCyc:3.4.14.10-RXN - MetaCyc:3.4.14.9-RXN molecular_function GO:0008240 tripeptidyl-peptidase activity @@ -10067,7 +10033,6 @@ The multiplication or reproduction of cells, resulting in the expansion of a cell population. - biological_process cell proliferation GO:0008283 @@ -10220,7 +10185,6 @@ https://github.com/geneontology/go-ontology/issues/28526 EC:1.8.3.1 KEGG_REACTION:R00533 - MetaCyc:PWY-5326 MetaCyc:SULFITE-OXIDASE-RXN RHEA:24600 Reactome:R-HSA-1614544 @@ -10322,9 +10286,8 @@ - - The chemical reactions and pathways resulting in the formation of ether lipids, lipids that contain (normally) one lipid alcohol in ether linkage to one of the carbon atoms (normally C-1) of glycerol. + https://github.com/geneontology/go-ontology/issues/28908 ether lipid anabolism ether lipid biosynthesis ether lipid formation @@ -10393,7 +10356,8 @@ - The chemical reactions and pathways resulting in the formation of substances; typically the energy-requiring part of metabolism in which simpler substances are transformed into more complex ones. + A cellular process consisting of the biochemical pathways by which a living organism synthesizes chemical substances. This typically represents the energy-requiring part of metabolism in which simpler substances are transformed into more complex ones. + https://github.com/geneontology/go-ontology/issues/28932 jl 2012-10-17T15:52:18Z GO:0044274 @@ -10416,7 +10380,7 @@ - The chemical reactions and pathways resulting in the formation of substances; typically the energy-requiring part of metabolism in which simpler substances are transformed into more complex ones. + A cellular process consisting of the biochemical pathways by which a living organism synthesizes chemical substances. This typically represents the energy-requiring part of metabolism in which simpler substances are transformed into more complex ones. GOC:curators ISBN:0198547684 @@ -10498,7 +10462,6 @@ - The chemical reactions and pathways resulting in the breakdown of methionine (2-amino-4-(methylthio)butanoic acid), a sulfur-containing, essential amino acid found in peptide linkage in proteins. UM-BBD_pathwayID:met methionine breakdown @@ -10543,9 +10506,9 @@ + - The chemical reactions and pathways resulting in the formation of glycoproteins, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. glycoprotein anabolism @@ -10575,7 +10538,6 @@ - The chemical reactions and pathways resulting in the formation of lipoate, 1,2-dithiolane-3-pentanoate, the anion derived from lipoic acid. GO:0009105 lipoate anabolism @@ -11451,7 +11413,6 @@ - The chemical reactions and pathways resulting in the breakdown of gamma-aminobutyric acid (GABA, 4-aminobutyrate), an amino acid which acts as a neurotransmitter in some organisms. MetaCyc:4AMINOBUTMETAB-PWY 4-aminobutanoate catabolic process @@ -11482,10 +11443,6 @@ A chlorophyll-containing plastid with thylakoids organized into grana and frets, or stroma thylakoids, and embedded in a stroma. - - - - Wikipedia:Chloroplast cellular_component GO:0009507 @@ -11537,12 +11494,6 @@ Any member of a family of organelles found in the cytoplasm of plants and some protists, which are membrane-bounded and contain DNA. Plant plastids develop from a common type, the proplastid. - - - - - - Wikipedia:Plastid cellular_component GO:0009536 @@ -11650,7 +11601,6 @@ The series of molecular signals mediated by the detection of a hormone. - hormone mediated signalling biological_process GO:0009755 @@ -11783,7 +11733,6 @@ - Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). https://github.com/geneontology/go-ontology/issues/22557 @@ -12195,8 +12144,8 @@ Enables the transfer of chloride ions from one side of a membrane to the other. https://github.com/geneontology/go-ontology/issues/20821 + https://github.com/geneontology/go-ontology/issues/27521 GO:0008555 - RHEA:29823 Reactome:R-HSA-5678822 Reactome:R-HSA-5678863 Reactome:R-HSA-5678992 @@ -12344,6 +12293,12 @@ GO:0015171 amino acid transmembrane transporter activity + + + + Reactome:R-HSA-352107 + SLC43A2 (LAT4)-mediated uptake of large neutral amino acids + @@ -12622,12 +12577,6 @@ Reactome:R-HSA-352103 SLC43A1 (LAT3)-mediated uptake of large neutral amino acids - - - - Reactome:R-HSA-352107 - SLC43A2 (LAT4)-mediated uptake of large neutral amino acids - @@ -12674,7 +12623,6 @@ The directed movement of bilirubin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. - biological_process GO:0015723 bilirubin transport @@ -12775,7 +12723,6 @@ - The chemical reactions and pathways involving pantothenate, the anion of pantothenic acid, the amide of beta-alanine and pantoic acid. It is a B complex vitamin that is a constituent of coenzyme A and is distributed ubiquitously in foods. GO:0006770 pantothenate metabolism @@ -12991,7 +12938,6 @@ - The chemical reactions and pathways involving carotenes, hydrocarbon carotenoids. carotene metabolism biological_process @@ -13633,7 +13579,6 @@ - The removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydrogen. https://github.com/geneontology/go-ontology/issues/28388 biological_process @@ -13782,7 +13727,6 @@ - The chemical reactions and pathways resulting in the formation of L-ascorbic acid; L-ascorbic acid ionizes to give L-ascorbate, (2R)-2-[(1S)-1,2-dihydroxyethyl]-4-hydroxy-5-oxo-2,5-dihydrofuran-3-olate, which is required as a cofactor in the oxidation of prolyl residues to hydroxyprolyl, and other reactions. MetaCyc:PWY-882 L-ascorbic acid anabolism @@ -15248,7 +15192,7 @@ Enables the transfer of riboflavin from one side of a membrane to the other. Riboflavin (vitamin B2) is a water-soluble B-complex vitamin, converted in the cell to FMN and FAD, cofactors required for the function of flavoproteins. - RHEA:35015 + https://github.com/geneontology/go-ontology/issues/27521 Reactome:R-HSA-3165230 molecular_function riboflavin transporter activity @@ -15356,10 +15300,6 @@ Any biological process, occurring at the level of a multicellular organism, pertinent to its function. https://github.com/geneontology/go-ontology/issues/27189 - - - - jl 2012-09-19T16:07:47Z GO:0044707 @@ -15558,7 +15498,6 @@ Any constituent part of a host cell. The host is defined as the larger of the organisms involved in a symbiotic interaction. - cellular_component GO:0033643 @@ -15758,8 +15697,6 @@ - - The chemical reactions and pathways resulting in the formation of cortisol, the steroid hormone 11-beta-17,21-trihydroxypregn-4-ene-3,20-dione. Cortisol is synthesized from cholesterol in the adrenal gland and controls carbohydrate, fat and protein metabolism and has anti-inflammatory properties. cortisol biosynthesis cortisol formation @@ -16875,7 +16812,6 @@ - The chemical reactions and pathways involving any of the compounds secreted by the thyroid gland, largely thyroxine and triiodothyronine. thyroid hormone metabolism biological_process @@ -16975,7 +16911,6 @@ The process whose specific outcome is the progression of a tooth or teeth over time, from formation to the mature structure(s). A tooth is any hard bony, calcareous, or chitinous organ found in the mouth or pharynx of an animal and used in procuring or masticating food. - GO:0042477 Wikipedia:Odontogenesis odontogeny @@ -17230,7 +17165,6 @@ A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. - NIF_Subcellular:sao867568886 neuron process neuron protrusion @@ -17280,7 +17214,8 @@ - A enzyme complex of which the core is a heterodimer composed of a light (alpha) and heavy (beta) chain, and requires several other water-soluble proteins of cytosolic origin for activity. Functions in superoxide generation by the NADPH-dependent reduction of O2. + A enzyme complex of which the core is a heterodimer composed of a light (alpha) and heavy (beta) chain, and requires the cytosolic regulatory subunits at least NCF1/p47-phox, NCF2/p67-phox, NCF4/p40-phox and the small GTPase RAC1 or RAC2 for activity. Functions in superoxide generation by the NADPH-dependent reduction of O2. + https://github.com/geneontology/go-ontology/issues/29068 flavocytochrome b558 cellular_component respiratory-burst oxidase @@ -17290,7 +17225,7 @@ - A enzyme complex of which the core is a heterodimer composed of a light (alpha) and heavy (beta) chain, and requires several other water-soluble proteins of cytosolic origin for activity. Functions in superoxide generation by the NADPH-dependent reduction of O2. + A enzyme complex of which the core is a heterodimer composed of a light (alpha) and heavy (beta) chain, and requires the cytosolic regulatory subunits at least NCF1/p47-phox, NCF2/p67-phox, NCF4/p40-phox and the small GTPase RAC1 or RAC2 for activity. Functions in superoxide generation by the NADPH-dependent reduction of O2. GOC:jl PMID:11483596 PMID:12440767 @@ -17553,11 +17488,13 @@ Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane and occurring within the cell. Includes ribosomes, the cytoskeleton and chromosomes. + https://github.com/geneontology/go-ontology/issues/29106 + intracellular non-membrane-bounded organelle intracellular non-membrane-enclosed organelle cellular_component GO:0043232 - intracellular non-membrane-bounded organelle + intracellular membraneless organelle @@ -17698,7 +17635,7 @@ - + Any process that modulates the frequency, rate or extent of RNA splicing, the process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA. biological_process GO:0043484 @@ -17892,21 +17829,21 @@ - - - The chemical reactions and pathways by which individual cells transform chemical substances. + OBSOLETE. The chemical reactions and pathways by which individual cells transform chemical substances. + https://github.com/geneontology/go-ontology/issues/29021 + GO:0008152 cellular metabolism biological_process intermediary metabolism GO:0044237 - - This term should not be used for direct annotation. It should be possible to make a more specific annotation to one of the children of this term. - cellular metabolic process + The reason for obsoletion is that this term is now redundant with GO:0008152, metabolic process + obsolete cellular metabolic process + true - The chemical reactions and pathways by which individual cells transform chemical substances. + OBSOLETE. The chemical reactions and pathways by which individual cells transform chemical substances. GOC:go_curators @@ -17947,24 +17884,23 @@ - - - The chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. + OBSOLETE. The chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. https://github.com/geneontology/go-ontology/issues/27052 + GO:0009058 cellular anabolism cellular biosynthesis cellular formation cellular synthesis biological_process GO:0044249 - - This term should not be used for direct annotation. It should be possible to make a more specific annotation to one of the children of this term. - cellular biosynthetic process + The reason for obsoletion is that this term is now redundant with GO:0009058, biosynthetic process + obsolete cellular biosynthetic process + true - The chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. + OBSOLETE. The chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. GOC:jl @@ -18095,7 +18031,6 @@ Any process evolved to enable an interaction with an organism of a different species. https://github.com/geneontology/go-ontology/issues/20191 - interaction with another species interspecies interaction interspecies interaction between organisms @@ -18597,9 +18532,6 @@ Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. - - - GO:0002226 Wikipedia:Innate_immune_system innate immunity @@ -19139,7 +19071,6 @@ - The chemical reactions and pathways involving folic acid, pteroylglutamic acid. Folic acid is widely distributed as a member of the vitamin B complex and is essential for the synthesis of purine and pyrimidines. folate metabolic process folate metabolism @@ -19317,7 +19248,6 @@ - The chemical reactions and pathways resulting in the breakdown of ketone bodies, any one of the three substances: acetoacetate, D-3-hydroxybutyrate (beta-hydroxybutyrate) or acetone. Ketone bodies can be used as an energy source as an alternative to glucose. Utilization of ketone bodies in peripheral tissues involves conversion of acetoacetate to acetoacetyl-CoA, which is then converted to two molecules of acetyl-CoA. MetaCyc:PWY66-368 ketolysis @@ -20022,7 +19952,6 @@ Any process that modulates the frequency, rate or extent of cell activation, the change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand. - biological_process GO:0050865 regulation of cell activation @@ -21675,7 +21604,6 @@ adenylosuccinase activity adenylosuccinate lyase activity succino AMP-lyase activity - EC:4.3.2.2 KEGG_REACTION:R04559 MetaCyc:AICARSYN-RXN RHEA:23920 diff --git a/src/ontology/imports/obi_import.owl b/src/ontology/imports/obi_import.owl index 0d4e224a..f139585b 100644 --- a/src/ontology/imports/obi_import.owl +++ b/src/ontology/imports/obi_import.owl @@ -243,7 +243,7 @@ A continuant cannot be part of an occurrent: use 'participates in'. An is_realized_by - Relation between a realizable and a process. Reciprocal relation of realizes [GOC:cjm] + Relation between a realizable and a process. Reciprocal relation of realizes [GOC:cjm] replaced by http://purl.obolibrary.org/obo/BFO_0000054: 'is realized by' GROUP:OBI:<http://obi.sourceforge.net> PERSON: Chris Mungall @@ -267,7 +267,7 @@ denotes a function and not a process). We leave open the possibility of defining in future the sub-relations directly_realizes (as bewteen a function and it's functioning) and indirectly_realizes. - Relation between a process and a function, where the unfolding of the + Relation between a process and a function, where the unfolding of the process requires the execution of the function. Class level: P realizes F iff: given any p that instantiates P, there exists some f, t such that f instantiates F at t and p *realizes* f. Here, *realizes* is the primitive @@ -334,7 +334,7 @@ instance level relation [GOC:cjm] mass spectrometer LCQ Fleet Ion Trap MSn manufactured by thermo fisher scientific - A mass spectrometer is an instrument which is used to measure the mass to charge ratio of ions. All mass spectrometers consist of three basic parts: an ion source, a mass analyzer, and a detector system. The stages within the mass spectrometer are: 1. Production of ions from the sample 2. Separation of ions with different masses 3. Detection of the number of ions of each mass produced 4.Collection of data to generate the mass spectrum + A mass spectrometer is an instrument which is used to measure the mass to charge ratio of ions. All mass spectrometers consist of three basic parts: an ion source, a mass analyzer, and a detector system. The stages within the mass spectrometer are: 1. Production of ions from the sample 2. Separation of ions with different masses 3. Detection of the number of ions of each mass produced 4.Collection of data to generate the mass spectrum Frank Gibson http://en.wikipedia.org/wiki/Mass_spectrometry mass spectrometer @@ -540,7 +540,7 @@ that has_part some material entity is a material entity. If we add as equivalent isolation of cell population removing CD4+ cells from PBMCs using magnetic beads. - a process in which a population of cells with certain characteristics is isolated from a larger population + a process in which a population of cells with certain characteristics is isolated from a larger population Person: Bjoern Peters isolation of cell population @@ -553,7 +553,7 @@ that has_part some material entity is a material entity. If we add as equivalent isolation of adherent cells - a material separation process in which cells that stick to the container in which they are grown as a cell culture are separated from those in the liquid component of the culture. The output of this process are adherent cells. + a material separation process in which cells that stick to the container in which they are grown as a cell culture are separated from those in the liquid component of the culture. The output of this process are adherent cells. isolation of adherent cells @@ -568,7 +568,7 @@ that has_part some material entity is a material entity. If we add as equivalent Span PN, Sieuwerts AM, Heuvel JJ, Spyratos F, Duffy MJ, Eppenberger-Castori S, Vacher S, O'Brien K, McKiernan E, Pierce A, Vuaroqueaux V, Foekens JA, Sweep FC, Martens JW. Eur J Cancer. 2009 Jan;45(1):74-81. PMID: 19008094 - reverse transcribe pcr is a process which allow amplification of cDNA during a pcr reaction while the cDNA results from a retrotranscription of messenger RNA isolated from a material entity. + reverse transcribe pcr is a process which allow amplification of cDNA during a pcr reaction while the cDNA results from a retrotranscription of messenger RNA isolated from a material entity. 3/21/10, BP:Modified definition to clarify that this is not the assay, but the material transformation Philippe Rocca-Serra RT-PCR @@ -607,7 +607,7 @@ Eur J Cancer. 2009 Jan;45(1):74-81. PMID: 19008094 specimen collection process drawing blood from a patient for analysis, collecting a piece of a plant for depositing in a herbarium, buying meat from a butcher in order to measure its protein content in an investigation - A planned process with the objective of collecting a specimen. + A planned process with the objective of collecting a specimen. Note: definition is in specimen creation objective which is defined as an objective to obtain and store a material entity for potential use as an input during an investigation. Philly2013: A specimen collection can have as part a material entity acquisition, such as ordering from a bank. The distinction is that specimen collection necessarily involves the creation of a specimen role. However ordering cell lines cells from ATCC for use in an investigation is NOT a specimen collection, because the cell lines already have a specimen role. Philly2013: The specimen_role for the specimen is created during the specimen collection process. @@ -629,7 +629,7 @@ http://sourceforge.net/p/obi/obi-terms/716/ Helicos sequencing assay PMID: 18388294. Single-molecule DNA sequencing of a viral genome. - A DNA sequencing by synthesis assay that identifiies the sequnece of billions of DNA molecules immobilized to a surface using DNA polymerase and fluorescently labeled nucleotides added one at a time. The sequencing process does not require an amplification step and is typically able to produce reads of 25 base pair length. + A DNA sequencing by synthesis assay that identifiies the sequnece of billions of DNA molecules immobilized to a surface using DNA polymerase and fluorescently labeled nucleotides added one at a time. The sequencing process does not require an amplification step and is typically able to produce reads of 25 base pair length. Philippe Rocca-Serra true single molecule sequencing url:https://en.wikipedia.org/wiki/Helicos_single_molecule_fluorescent_sequencing @@ -644,7 +644,7 @@ http://sourceforge.net/p/obi/obi-terms/716/ library preparation PMID: 19570239. Construction and analysis of cotton (Gossypium arboreum L.) drought-related cDNA library. Zhang L, Li FG, Liu CL, Zhang CJ, Zhang XY. BMC Res Notes. 2009 Jul 2;2:120. - is a process which results in the creation of a library from fragments of DNA using cloning vectors or oligonucleotides with the role of adaptors. + is a process which results in the creation of a library from fragments of DNA using cloning vectors or oligonucleotides with the role of adaptors. Philippe Rocca-Serra library construction library preparation @@ -659,7 +659,7 @@ http://sourceforge.net/p/obi/obi-terms/716/ Solexa sequencing assay PMID: 18987734 - A DNA sequencing by synthesis assay that identifies sequence information using DNA polymerase and reversible terminator, requiring immobilization of genomic DNA fragments onto a surface and a specific clonal amplification step known as bridge PCR. Reliance on a reversible terminator allows cycles of DNA chain extension by DNA polymerase and imaging without the need of electrophoretic separation of newly synthesized DNA fragment as with Sanger sequencing. + A DNA sequencing by synthesis assay that identifies sequence information using DNA polymerase and reversible terminator, requiring immobilization of genomic DNA fragments onto a surface and a specific clonal amplification step known as bridge PCR. Reliance on a reversible terminator allows cycles of DNA chain extension by DNA polymerase and imaging without the need of electrophoretic separation of newly synthesized DNA fragment as with Sanger sequencing. Philippe Rocca-Serra reversible terminator sequencing Solexa web site (SS_DNAsequencing.pdf document available on july 2009) @@ -675,7 +675,7 @@ http://sourceforge.net/p/obi/obi-terms/716/ material sample blood drawn from patient to measure his systemic glucose level. A population of humans with HIV enrolled in a study taken to represent patients with HIV in general. - A material entity that has the material sample role + A material entity that has the material sample role OBI: workshop sample population @@ -734,7 +734,7 @@ http://sourceforge.net/p/obi/obi-terms/716/ polyA RNA extract Preparation of polyA RNA by cellulose-bound oligo-dT (Aviv, H., Leder, P. 1972. Purification of biologically active globin messenger RNA by chromatography on oligothymidylic acid-cellulose. Proc. Nat. Acad. Sci. USA 69, 1408-1412.) - A RNA extract that is the output of an extraction process in which RNA molecules with poly A tail at its 3' end are purified. + A RNA extract that is the output of an extraction process in which RNA molecules with poly A tail at its 3' end are purified. PERSON: Chris Stoeckert PERSON: Jie Zheng UPenn Group @@ -753,7 +753,7 @@ http://sourceforge.net/p/obi/obi-terms/716/ frozen specimen Frozen blood plasma - A specimen that has been frozen in order to store it. + A specimen that has been frozen in order to store it. Person:Alan Ruttenberg MO_610 frozen_sample frozen specimen @@ -767,7 +767,7 @@ http://sourceforge.net/p/obi/obi-terms/716/ labeled specimen - A specimen that has been modified in order to be able to detect it in future experiments + A specimen that has been modified in order to be able to detect it in future experiments added during call 3/1/2010 OBI group labeled specimen @@ -784,7 +784,7 @@ http://sourceforge.net/p/obi/obi-terms/716/ paraffin specimen liver tissue embedded in paraffin - a specimen that is output of a paraffin storage process in which specimen is embedded in paraffin + a specimen that is output of a paraffin storage process in which specimen is embedded in paraffin PERSON: Chris Stoeckert PERSON: Jie Zheng MO_990 paraffin_sample @@ -801,7 +801,7 @@ http://sourceforge.net/p/obi/obi-terms/716/ fresh specimen a liver freshly removed from a rat - a specimen that is output of a specimen creation process used for an investigation without storage. + a specimen that is output of a specimen creation process used for an investigation without storage. PERSON: Chris Stoeckert PERSON: Jie Zheng MO_730 fresh_sample @@ -816,7 +816,7 @@ http://sourceforge.net/p/obi/obi-terms/716/ agar stab specimen - a specimen that is output of a process that cell culture inoculated into agar for long term storage. + a specimen that is output of a process that cell culture inoculated into agar for long term storage. PERSON: Chris Stoeckert PERSON: Jie Zheng MO_971 agar_stab @@ -856,7 +856,7 @@ http://sourceforge.net/p/obi/obi-terms/716/ validation by reverse transcription PCR design - a study design in which checks the accuracy or the quality of the result of an assay by comparing with reverse transcription PCR results + a study design in which checks the accuracy or the quality of the result of an assay by comparing with reverse transcription PCR results PERSON: Chris Stoeckert, Jie Zheng MO_986 reverse_transcription_PCR_quality_control validation by reverse transcription PCR design @@ -869,7 +869,7 @@ http://sourceforge.net/p/obi/obi-terms/716/ validation by real time PCR design - a study design in which the accuracy or the quality of the result of an assay is checked by comparing with real time PCR results + a study design in which the accuracy or the quality of the result of an assay is checked by comparing with real time PCR results PERSON: Chris Stoeckert, Jie Zheng MO_434 real_time_PCR_quality_control validation by real time PCR design @@ -903,7 +903,7 @@ http://svitsrv25.epfl.ch/R-doc/library/qvalue.html cell specimen - A specimen primarily composed of a cell or cells collected from a multicellular organism or a cell culture. + A specimen primarily composed of a cell or cells collected from a multicellular organism or a cell culture. Discussed on obi call Jan 23, 2017. To improve cell specimen that include single cell specimen. Details see tracker: https://sourceforge.net/p/obi/obi-terms/828/ PERSON: Chris Stoeckert, Jie Zheng, Alexander Diehl MO_612 cell @@ -918,7 +918,7 @@ http://svitsrv25.epfl.ch/R-doc/library/qvalue.html specimen with known storage state - A specimen for which it is known whether it has been subjected to storage of a specified type. + A specimen for which it is known whether it has been subjected to storage of a specified type. PERSON: Chris Stoeckert, Jie Zheng MO_95 BiosourceType specimen with known storage state @@ -965,7 +965,7 @@ http://svitsrv25.epfl.ch/R-doc/library/qvalue.html in-situ hybridization assay Use of in situ hybridization to examine gene expression in the embryonic, neonatal, and adult urogenital system. PMID:22639265 - An assay that localizes a specific DNA or RNA sequence within a portion or section of tissue using artificially induced nucleic hybridization. + An assay that localizes a specific DNA or RNA sequence within a portion or section of tissue using artificially induced nucleic hybridization. Marcus Chibucos Philippe Rocca-Serra ISH @@ -983,7 +983,7 @@ http://svitsrv25.epfl.ch/R-doc/library/qvalue.html immunoprecipitation assay Determining if a cell is producing a protein using a protein specific antibody to immunoprecipitate the cell lysate. Determining if the serum of a patient contains antibodies against HBV core protein by immunoprecipitating purified HBV core protein with the patients serum. - An analyte assay in which an input material is mixed with antibodies and bound antigen:antibody complexes are separated out using immunoprecipitation. Either the antibody has known specificy, and the antigen mixture is tested for the presence of a specific antigen, or the antigen solution is well defined and the antibody solution is tested for the presence of antigen specific antibodies. + An analyte assay in which an input material is mixed with antibodies and bound antigen:antibody complexes are separated out using immunoprecipitation. Either the antibody has known specificy, and the antigen mixture is tested for the presence of a specific antigen, or the antigen solution is well defined and the antibody solution is tested for the presence of antigen specific antibodies. IEDB IEDB immunoprecipitation assay @@ -996,7 +996,7 @@ http://svitsrv25.epfl.ch/R-doc/library/qvalue.html differential expression analysis data - The results of a differential expression analysis. + The results of a differential expression analysis. differential expression analysis data @@ -1133,7 +1133,7 @@ This issue is outside the scope of OBI. DNA sequencer ABI 377 DNA Sequencer, ABI 310 DNA Sequencer - A DNA sequencer is an instrument that determines the order of deoxynucleotides in deoxyribonucleic acid sequences. + A DNA sequencer is an instrument that determines the order of deoxynucleotides in deoxyribonucleic acid sequences. Trish Whetzel MO DNA sequencer @@ -1147,7 +1147,7 @@ This issue is outside the scope of OBI. array scanner GenePix 4200A, GenePix4000B - An processed material which acquires images of fluorescence (induced with lasers) from labeled molecules on the surface of the microarray chip + An processed material which acquires images of fluorescence (induced with lasers) from labeled molecules on the surface of the microarray chip Trish Whetzel GROUP: MGED Ontology array scanner @@ -1161,7 +1161,7 @@ This issue is outside the scope of OBI. arrayer BioRobotics Microgrid II TAS, Affymetrix GMS 417 - A device which deposits biological material onto a substrate in a defined pattern. + A device which deposits biological material onto a substrate in a defined pattern. Trish Whetzel MO_697 arrayer arrayer @@ -1174,7 +1174,7 @@ This issue is outside the scope of OBI. centrifuge - A device with a rapidly rotating container that applies centrifugal force to its contents + A device with a rapidly rotating container that applies centrifugal force to its contents Melanie Courtot Person: Jennifer Fostel Trish Whetzel @@ -1190,7 +1190,7 @@ This issue is outside the scope of OBI. computer Apple PowerBook, Dell OptiPlex - A computer is an instrument which manipulates (stores, retrieves, and processes) data according to a list of instructions. + A computer is an instrument which manipulates (stores, retrieves, and processes) data according to a list of instructions. Melanie Courtot Trish Whetzel http://en.wikipedia.org/wiki/Computer @@ -1205,7 +1205,7 @@ This issue is outside the scope of OBI. heating block An instrument used to heat and/or maintain material at a set temperature. - A heating block is an instrument or part of an instrument which raises or maintains the temperature of a sample to a defined constant temperature during certain parts of an assay + A heating block is an instrument or part of an instrument which raises or maintains the temperature of a sample to a defined constant temperature during certain parts of an assay Daniel Schober MO heating block @@ -1219,7 +1219,7 @@ This issue is outside the scope of OBI. homogenizer mortar, blender - A homogenizer is an instrument for the homogenization of various types of material, such as tissue, plant, food, soil, and many others. + A homogenizer is an instrument for the homogenization of various types of material, such as tissue, plant, food, soil, and many others. Melanie Courtot Trish Whetzel http://en.wikipedia.org/wiki/Homogenizer @@ -1234,7 +1234,7 @@ This issue is outside the scope of OBI. hybridization chamber Glass Array Hybridization Cassette - A device which is used to maintain constant contact of a liquid on an array. This can be either a glass vial or slide. + A device which is used to maintain constant contact of a liquid on an array. This can be either a glass vial or slide. Trish Whetzel MO_563 hybridization_chamber hybridization chamber @@ -1248,7 +1248,7 @@ This issue is outside the scope of OBI. hybridization station Labnet Problot12 - A device which is used to maintain the temperature of one or more hybridization_chamber(s) at a defined, constant temperature. + A device which is used to maintain the temperature of one or more hybridization_chamber(s) at a defined, constant temperature. Trish Whetzel MO_497 hybridization station hybridization station @@ -1262,7 +1262,7 @@ This issue is outside the scope of OBI. liquid handler Beckman BioMek 2000 - A device that is used for automated liquid transfer and handling. + A device that is used for automated liquid transfer and handling. liquid_handling_instrument MO_868 liquid_handler DS: Is this class justified? Its a unnamed class. If so, put a fluidic_system and the fluidic_subsystem as subclasses. TW: This is required by MO. FG & DS: Capture as function. All: Needs to be reviewed, according to query use case. If we keep it its kept as unnamed owl class. The liquid handling class remains but as an undefined class with are unlikely to have children. It is expected that the reasoner would classifiy appropriate classes under this class that meet the have the liquid_handling function relation. @@ -1278,7 +1278,7 @@ This issue is outside the scope of OBI. oligonucleotide synthesizer Automated Multiplex Oligonucleotide Synthesizer - An instrument used to chemically synthesize oligonucleotides. + An instrument used to chemically synthesize oligonucleotides. Trish Whetzel MO oligonucleotide synthesizer @@ -1292,7 +1292,7 @@ This issue is outside the scope of OBI. sonicator Sonicator 3000 - A device that converts a variable electrical current to mechanical vibration of a metallic probe. The device is used for the lysis of cells, the mixing of compounds or solutions, to framgent molecules of DNA, or to create emulsions. + A device that converts a variable electrical current to mechanical vibration of a metallic probe. The device is used for the lysis of cells, the mixing of compounds or solutions, to framgent molecules of DNA, or to create emulsions. Trish Whetzel MO sonicator @@ -1306,7 +1306,7 @@ This issue is outside the scope of OBI. spectrophotometer Helios Gamma Spectrophotometer - A spectrophotometer is an instrument that measures the intensity of light as a function of the color, or more specifically, the wavelength of light, transmitted by a substance. + A spectrophotometer is an instrument that measures the intensity of light as a function of the color, or more specifically, the wavelength of light, transmitted by a substance. Melanie Courtot Trish Whetzel MO @@ -1321,7 +1321,7 @@ This issue is outside the scope of OBI. thermal cycler Piko(tm) 96-well Thermal Cycler - An instrument that is capable of repeatedly altering and maintaining specific temperatures for defined periods of time. + An instrument that is capable of repeatedly altering and maintaining specific temperatures for defined periods of time. Melanie Courtot Trish Whetzel DNA_amplifier @@ -1340,7 +1340,7 @@ This issue is outside the scope of OBI. vacuum dryer Model 777 Microarray Oven - An instrument which removes liquid by the application of negative pressure, i.e. vacuum. + An instrument which removes liquid by the application of negative pressure, i.e. vacuum. Trish Whetzel MO vacuum dryer @@ -1354,7 +1354,7 @@ This issue is outside the scope of OBI. vortexer VWR Genie 2 - A vortexer is an instrument that mixes small vials of liquid by creating a rotation of the liquid around its own center. It consists of an electric motor with the drive shaft oriented vertically and attached to a cupped rubber piece mounted slightly off-center. As the motor runs the rubber piece oscillates rapidly in a circular motion. When a test tube or other appropriate container is pressed into the rubber cup (or touched to its edge) the motion is transmitted to the liquid inside and a vortex is created. + A vortexer is an instrument that mixes small vials of liquid by creating a rotation of the liquid around its own center. It consists of an electric motor with the drive shaft oriented vertically and attached to a cupped rubber piece mounted slightly off-center. As the motor runs the rubber piece oscillates rapidly in a circular motion. When a test tube or other appropriate container is pressed into the rubber cup (or touched to its edge) the motion is transmitted to the liquid inside and a vortex is created. Melanie Courtot Trish Whetzel vortex_mixer @@ -1370,7 +1370,7 @@ This issue is outside the scope of OBI. water bath A water bath was used to allow for cell incubation at 38 degree centigrade for 8 hours. - A water bath is a temperature control bath in which a water acts as contact medium enabling temperature transfer from the heating element or cooling element to the sample. The temperature can be controlled in the 0 to 100 degree centigrade range (under normal pressure). + A water bath is a temperature control bath in which a water acts as contact medium enabling temperature transfer from the heating element or cooling element to the sample. The temperature can be controlled in the 0 to 100 degree centigrade range (under normal pressure). Daniel Schober PERSON: Daniel Schober water bath @@ -1390,7 +1390,7 @@ This issue is outside the scope of OBI. tumor grading - An assay that determines the grade (severity/stage) of a tumor sample, used in cancer biology to describe abnormalities/qualities of tumor cells or tissues. Values can be described by terms from NCI Thesaurus. + An assay that determines the grade (severity/stage) of a tumor sample, used in cancer biology to describe abnormalities/qualities of tumor cells or tissues. Values can be described by terms from NCI Thesaurus. Compiled by Helen Parkinson for Transcriptomics thanks to Adam Witney grading of tumor OBI branch derived; submitted by MO diff --git a/src/ontology/reports/basic-report.tsv b/src/ontology/reports/basic-report.tsv index 48dfdff7..f8ec0436 100644 --- a/src/ontology/reports/basic-report.tsv +++ b/src/ontology/reports/basic-report.tsv @@ -40,16 +40,15 @@ "The cord of nervous tissue that extends from the brain lengthwise along the back in the vertebral canal, gives off the pairs of spinal nerves, carries impulses to and from the brain, and serves as a center for initiating and coordinating many reflex acts." "ZFA:0000075 SAEL:100 BTO:0001279 MFO:0002860 EMAPA:17577 EHDAA:2863 MA:0000216 EV:0100316 XAO:0000020 MAT:0000183 FMA:7647 TAO:0000075" "A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of neoplastic epithelium that resembles the epithelium of the endocervix or gastrointestinal tract. It includes mucinous adenofibroma, mucinous cystadenofibroma, and mucinous cystadenoma." "NCIt:C40039" "SNOMEDCT:30917009 MeSH:D003017 NCIt:C86298" - "A Varicellovirus infectious disease that results_in infection located_in eye, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection." "DOID:8535 MedDRA:10030865 MESH:D006563 SCTID:87513003 MONDO:0005883 MeSH:D006563 UMLS:C0019364 MEDGEN:9236 ICD9:053.29" "The amount of a DNA damage-inducible transcript 3 protein when measured in blood serum." "Human medulloblastoma cell line" "RRID:CVCL_M137" "DSSTox_Generic_SID:40516 CASRN:102524-44-7" "A benign or malignant neoplasm that affects the rectosigmoid region. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectosigmoid adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms." "MEDGEN:87517 NCIT:C4877 UMLS:C0345873 SCTID:126848003 DOID:2780" - "A dimethylxanthine having the two methyl groups located at positions 1 and 3. It is structurally similar to caffeine and is found in green and black tea." "PMID:15005370 KEGG:D00371 PMID:11200776 PMID:11848250 PMID:15356646 PMID:12531775 Drug_Central:2620 PMID:10893702 KEGG:C07130 PMID:16083514 PMID:16651698 PMID:18800032 PMID:22836872 PMID:14517178 KNApSAcK:C00001510 PMID:14988770 PMID:15829161 PMID:22702215 PMID:11941393 PMID:7656958 PMID:10796631 PMID:22981724 PMID:22909172 PMID:15908149 PMID:22915350 PMID:15483348 PMID:12836095 PMID:15042504 PMID:7302609 PMID:21796703 Gmelin:51226 PMID:22770225 PMID:15317832 PMID:19845735 PMID:19559058 PMID:17207928 MetaCyc:CPD-12479 Beilstein:13463 PMID:11170036 PMID:9256615 DrugBank:DB00277 PMID:19727789 PMID:15202575 PMID:15739418 PMID:7389811 VSDB:1801 PMID:17130682 PMID:8960878 PMID:21467671 PMID:22771369 PMID:22541837 PMID:11949272 PMID:14713563 PMID:10921764 CAS:58-55-9 PMID:22377744 PMID:8730732 PMID:7767539 PMID:11950649 Wikipedia:Theophylline PMID:18307508 PMID:11826912 PMID:21834615 PDBeChem:TEP PMID:11408152 PMID:11261527 HMDB:HMDB0001889 Reaxys:13463 PMID:16930490 PMID:10836323 PMID:15902964 PMID:11126990 PMID:19888960 PMID:22541679" + "A dimethylxanthine having the two methyl groups located at positions 1 and 3. It is structurally similar to caffeine and is found in green and black tea." "PMID:15005370 KEGG:D00371 PMID:11200776 PMID:11848250 PMID:15356646 PMID:12531775 Drug_Central:2620 PMID:10893702 KEGG:C07130 PMID:16083514 PMID:16651698 PMID:18800032 PMID:22836872 PMID:14517178 KNApSAcK:C00001510 PMID:14988770 PMID:15829161 PMID:22702215 PMID:11941393 PMID:7656958 PMID:10796631 PMID:22981724 PMID:22909172 PMID:15908149 PMID:22915350 PMID:15483348 PMID:12836095 PMID:15042504 PMID:7302609 PMID:21796703 Gmelin:51226 PMID:22770225 PMID:15317832 PMID:19845735 PMID:19559058 MetaCyc:CPD-12479 PMID:17207928 PMID:11170036 PMID:9256615 DrugBank:DB00277 PMID:19727789 PMID:15202575 PMID:15739418 PMID:7389811 VSDB:1801 PMID:17130682 PMID:8960878 PMID:21467671 PMID:22771369 PMID:22541837 PMID:11949272 PMID:14713563 PMID:10921764 CAS:58-55-9 PMID:22377744 PMID:8730732 PMID:7767539 PMID:11950649 Wikipedia:Theophylline PMID:18307508 PMID:11826912 PMID:21834615 PDBeChem:TEP PMID:11408152 PMID:11261527 HMDB:HMDB0001889 Reaxys:13463 PMID:16930490 PMID:10836323 PMID:15902964 PMID:11126990 PMID:19888960 PMID:22541679" "Quantification of the amount of complement factor H-related protein 1 in a sample." "PMID:34260947" - "An organic hydroxy compound that consists of benzene bearing a single hydroxy substituent. The parent of the class of phenols." "PMID:19029204 PMID:21689881 KEGG:C15584 Gmelin:2794 UM-BBD_compID:c0128 PMID:17852157 KEGG:D00033 Drug_Central:4266 KEGG:C00146 PMID:12058733 Reaxys:969616 PMID:21809019 PMID:16953321 PDBeChem:IPH DrugBank:DB03255 PMID:20886261 HMDB:HMDB0000228 Wikipedia:Phenol CAS:108-95-2 PMID:21492257 KNApSAcK:C00002664 PMID:21822930 Beilstein:969616 KEGG:D06536" + "An organic hydroxy compound that consists of benzene bearing a single hydroxy substituent. The parent of the class of phenols." "PMID:19029204 PMID:21689881 KEGG:C15584 Gmelin:2794 UM-BBD_compID:c0128 PMID:17852157 KEGG:D00033 Drug_Central:4266 KEGG:C00146 PMID:12058733 Reaxys:969616 PMID:21809019 PMID:16953321 PDBeChem:IPH DrugBank:DB03255 PMID:20886261 HMDB:HMDB0000228 Wikipedia:Phenol CAS:108-95-2 PMID:21492257 KNApSAcK:C00002664 PMID:21822930 KEGG:D06536" "Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee." "icd11.foundation:1756900121 GARD:21208 SCTID:737581000 UMLS:C4545230 MEDGEN:1616659 Orphanet:295028" "A border associated macrophage that is adjacent to a small blood vessel of a brain. A perivascular macrophage expresses the markers CD14, CD16 and CD163. In homeostatic conditions, this central nervous system macrophage has a non-motile cell body with extending and retracting projections through the blood vessel wall." @@ -78,7 +77,7 @@ "Malignant sex cord stromal tumor (SCST) of ovary is a rare ovarian cancer arising from granulosa, theca, sertoli and leydig cells or stromal fibroblasts, occurring at any age and presenting with abdominal or pelvic mass, and characterized (with the exception of fibroma) by the production of sex steroids resulting in manifestations of hormone excess, with a relatively favorable prognosis." "MEDGEN:233667 UMLS:C1334609 NCIT:C8053 Orphanet:35808 GARD:18816" "Inbred Strain." "TGEMO:00106 MGI:2159784" "A pheochromocytoma that metastasizes to other anatomic sites. Common sites of metastasis include lymph nodes, bones, liver, and lung. Morphologic features associated with malignant pheochromocytomas include: atypical mitotic figures, capsular and vascular invasion, tumor cell necrosis, and high mitotic activity." "MONDO:0006288 MEDGEN:87238 UMLS:C0334419 NCIT:C4220 EFO:1000348 ICDO:8700/3 SCTID:21851000119103 DOID:0080347" - "A disease involving the breast." "UMLS:C0006145 MEDGEN:652 ICD9:610-612.99 SCTID:79604008 DOID:3463 NCIT:C26709 ICD9:611.9 MESH:D001941 ICD9:611.8 ICD10:N64 ICD10CM:N60-N65 MONDO:0002657" + "A disease involving the breast." "UMLS:C0006145 MEDGEN:652 ICD9:610-612.99 SCTID:79604008 DOID:3463 NCIT:C26709 ICD9:611.9 MESH:D001941 ICD9:611.8 ICD10:N64 MONDO:0002657 ICD10CM:N60-N65" "A loss of the ability to move the vocal folds." "UMLS:C1854345 SNOMEDCT_US:302912005 UMLS:C0042928" "The amount of a roundabout homolog 4 when measured in blood serum." "MEDGEN:1783778 OMIM:619324 UMLS:C5543398" @@ -98,7 +97,7 @@ "human melanoma established from the lymph node metastasis (groin) of a 26-year-old man with malignant melanoma (primary tumor histology: SSM level IV) (DSMZ catalog number ACC 237)" "CLO:0006670 BTO:0005747 RRID:CVCL_2075" "A neoplasm involving a oculomotor nerve." "NCIT:C6994 MEDGEN:220391 SCTID:126969002 ICD9:239.7 DOID:2817 UMLS:C1263895" - "A red blood cell. In mammals, mature erythrocytes are biconcave disks containing hemoglobin whose function is to transport oxygen." "FMA:81100 NCIt:C12521 CALOHA:TS-0290 BTO:0000424 SNOMEDCT:41898006" + "A red blood cell. In mammals, mature erythrocytes are biconcave disks containing hemoglobin whose function is to transport oxygen." "SNOMEDCT:41898006 FMA:81100 NCIt:C12521 CALOHA:TS-0290 BTO:0000424" "Tip of renal pyramid projecting into a minor calyx." "BTO:0003925 SCTID:362214007 Wikipedia:Renal_papilla galen:RenalPapilla FMA:15622 EMAPA:35727 UMLS:C0022666 MESH:D007679 NCIT:C33460 MA:0002730" "A benign soft tissue lesion arising from the adrenal gland. It is composed of mature adipose and hematopoietic/lymphoid tissues." "MEDGEN:64623 UMLS:C0206635 MESH:D018209 EFO:1000074 SCTID:719049003 MONDO:0006075 NCIT:C3736 ICDO:8870/0" "Quantification of the amount of arachidonoylcholine in a sample." "PMID:35347128" @@ -122,7 +121,6 @@ "The amount of a ADP-ribosylation factor 6 when measured in blood serum." "ICD10:E85.0" "Thomas syndrome is characterized by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive." "MESH:C536514 MEDGEN:419362 UMLS:C2931225 GARD:5175 Orphanet:3316 SCTID:716740009" - "Perianal Crohn's disease is a type of Crohn's disease affecting the anus." "MONDO:0005537 UMLS:C0341395 SCTID:235796008 MEDGEN:574362 SNOMEDCT:235796008" "The amount of a cyclin-H when measured in blood serum." "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the ileum." "GARD:19753 NCIT:C135092 UMLS:C4525628 Orphanet:100078 MEDGEN:1611292" "MEDGEN:1682428 OMIM:618527 UMLS:C5193147" @@ -255,7 +253,6 @@ "NCIt:C77170 MeSH:D002176 SNOMEDCT:53326005" "X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy." "MedDRA:10060360 OMIM:300755 UMLS:C0221026 MeSH:C537409 ICD10:D80.0 OMIM:300310" "OMIM:618505 MEDGEN:1682403 UMLS:C5193134 DOID:0081443" - "A pathological constriction occurring in the region below the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA." "MONDO:0006987 UMLS:C0340375 DOID:5805 NCIt:C85172 NANDO:2200277 NANDO:2100093 NCIT:C85172 SCTID:204368006 GARD:5052 MEDGEN:90950 MedDRA:10042431 MESH:D001020 MeSH:D001020" "The lipid bilayer surrounding a cytoplasmic vesicle." "A benign nodular lesion protruding above the surface of the endometrium. It is composed of a fibrous stroma that contains thick-walled blood vessels and dilated endometrial glands. Polypectomy is the treatment of choice. Only few cases with recurrence have been reported." "UMLS:C1704273 NCIt:C6433 MONDO:0006195 MEDGEN:312370 MedDRA:10014769 NCIT:C6433" @@ -309,6 +306,7 @@ "A form of tachycardia which begins and ends in an acute (or paroxysmal) manner." "SNOMEDCT:12026006 MeSH:D013614 Wikipedia:Paroxysmal_tachycardia HP:0006688 ICD10:I47 UMLS:C0039236 MedDRA:10034047" "A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection." "UMLS:C0031306 DOID:3262 MESH:D010585 MONDO:0005910 MEDGEN:14713 MeSH:D010585" + "A enzyme complex of which the core is a heterodimer composed of a light (alpha) and heavy (beta) chain, and requires the cytosolic regulatory subunits at least NCF1/p47-phox, NCF2/p67-phox, NCF4/p40-phox and the small GTPase RAC1 or RAC2 for activity. Functions in superoxide generation by the NADPH-dependent reduction of O2." "Craniodigital syndrome - intellectual deficit is characterized by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit." "SCTID:763665007 OMIM:312860 GARD:4776 Orphanet:1514 MEDGEN:333293 MESH:C537528 UMLS:C1839311" "OMIM:126190 ICD10:Q87.1" "An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma." "EFO:1000416 MEDGEN:91087 DOID:5828 SCTID:254852002 MONDO:0006335 ONCOTREE:EOV ICD10:C56 NCIT:C7979 UMLS:C0346163 GARD:21893 Orphanet:454723" @@ -327,7 +325,7 @@ "ICD10:Q87.1" - "A non-proteinogenic alpha-amino acid consisting of cyclopropane having amino and carboxy substituents both at the 1-position." "DrugBank:DB02085 Pesticides:acc KNApSAcK:C00007566 Reaxys:2076413 MeSH:C023863 Beilstein:2076413 PDBeChem:1AC Gmelin:362607 CAS:22059-21-8 KEGG:C01234 NCIt:C70618 Wikipedia:1-Aminocyclopropane-1-carboxylic_acid PMID:24495994 MetaCyc:CPD-68 HMDB:HMDB0036458 PMID:24120532" + "A non-proteinogenic alpha-amino acid consisting of cyclopropane having amino and carboxy substituents both at the 1-position." "DrugBank:DB02085 Pesticides:acc KNApSAcK:C00007566 Reaxys:2076413 MeSH:C023863 PDBeChem:1AC Gmelin:362607 CAS:22059-21-8 KEGG:C01234 NCIt:C70618 Wikipedia:1-Aminocyclopropane-1-carboxylic_acid PMID:24495994 MetaCyc:CPD-68 HMDB:HMDB0036458 PMID:24120532" "A diterpenoid that is hexadec-2-en-1-ol substituted by methyl groups at positions 3, 7, 11 and 15." "PMID:24392173 HMDB:HMDB0002019 KNApSAcK:C00003467 PMID:17015885 MetaCyc:PHYTOL PMID:24333358 CAS:150-86-7 CAS:7541-49-3 KEGG:C01389 Reaxys:7855349 PMID:24422895 LIPID_MAPS_instance:LMPR0104010002" "Quantification of an individual's susceptibility to rheumatic fever, arising as a complication of primary infection with Group A Streptococcus" "PMID:28928442" @@ -461,7 +459,7 @@ "CS57521 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=germplasm&id=1005152522" "Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance." "GARD:376 SCTID:177504007 MESH:C536014 MEDGEN:120547 OMIM:200500 DOID:0050603 UMLS:C0265559 Orphanet:931" - "An alpha-amino acid that is phenylalanine bearing a hydroxy substituent at position 4 on the phenyl ring." "KNApSAcK:C00001397 CAS:556-03-6 Reaxys:515881 Beilstein:515881 Gmelin:27744 PMID:17190852 CAS:55520-40-6 KEGG:C01536" + "An alpha-amino acid that is phenylalanine bearing a hydroxy substituent at position 4 on the phenyl ring." "KNApSAcK:C00001397 CAS:556-03-6 Reaxys:515881 Gmelin:27744 PMID:17190852 CAS:55520-40-6 KEGG:C01536" "A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (CDISC)" "MONDO:0004981 SCTID:49436004 MESH:D001281 MedDRA:10003658 NANDO:2100051 MeSH:D001281 DOID:0060224 NANDO:2200226 ICD9:427.31 icd11.foundation:171698302 OMIM:611819 NCIT:C50466 HP:0005110 OMIM:615770 NCIt:C50466 UMLS:C0004238 MEDGEN:445 ICD10:I48 SNOMEDCT:49436004 OMIM:613120" "A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." "UMLS:C0022797 NANDO:2201244 SCTID:62009002 NORD:1341 Orphanet:79262 GARD:10973 icd11.foundation:1460031344 NANDO:1200155 MEDGEN:7230" "A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13." "GARD:15532 DOID:0110460 UMLS:C2678474 MEDGEN:437214 OMIM:611880" @@ -500,7 +498,7 @@ "A rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982." "MEDGEN:384042 GARD:2068 UMLS:C1857040 OMIM:225290 Orphanet:1892 MESH:C565601" "Papillon-Lefevre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." "Orphanet:678 OMIM:245000 GARD:3100 DOID:3389 ICD9:759.89 NORD:1552 SCTID:40158001 UMLS:C0030360 NCIT:C84992 MEDGEN:45306 MESH:D010214" - "A purine nucleobase that consists of purine bearing an oxo substituent at position 6." "PDBeChem:HPA Reaxys:5811 HMDB:HMDB0000157 PMID:23670363 ECMDB:ECMDB00157 Beilstein:5811 DrugBank:DB04076 PMID:23400363 KNApSAcK:C00001502 Gmelin:464558 PMID:1557408 CAS:68-94-0 PMID:8016081 PMID:22735334 Wikipedia:Hypoxanthine PMID:14253484 YMDB:YMDB00555 KEGG:C00262 MetaCyc:HYPOXANTHINE" + "A purine nucleobase that consists of purine bearing an oxo substituent at position 6." "PDBeChem:HPA Reaxys:5811 HMDB:HMDB0000157 PMID:23670363 ECMDB:ECMDB00157 DrugBank:DB04076 PMID:23400363 KNApSAcK:C00001502 Gmelin:464558 PMID:1557408 CAS:68-94-0 PMID:8016081 PMID:22735334 Wikipedia:Hypoxanthine PMID:14253484 YMDB:YMDB00555 KEGG:C00262 MetaCyc:HYPOXANTHINE" "An epithelial cell that has its apical plasma membrane folded into microvilli to provide ample surface for the absorption of nutrients from the intestinal lumen." "BTO:0000398 MESH:D020895 ZFA:0009269 FMA:62122" "One of the repeated divisions of the whole organism." "FBbt:00000003 HAO:0000929 MIAA:0000271 Wikipedia:Segmentation_(biology) MAT:0000271" @@ -510,12 +508,12 @@ "The amount of a small RNA 2'-O-methyltransferase when measured in blood serum." "A mononitrotoluene that consists of toluene bearing a nitro substituent at the 4-position." "PMID:23389716 Gmelin:26926 CAS:99-99-0 Reaxys:1906911 PMID:21895789 KEGG:C14394 PMID:9139924 Beilstein:1906911" - "A one-carbon compound with formula CO2 in which the carbon is attached to each oxygen atom by a double bond. A colourless, odourless gas under normal conditions, it is produced during respiration by all animals, fungi and microorganisms that depend directly or indirectly on living or decaying plants for food." "CAS:124-38-9 PMID:19259576 PMID:8482095 PMID:19043767 KEGG:C00011 PDBeChem:CO2 PMID:17884085 PMID:11802652 PMID:17190796 PPDB:119 PMID:14639145 PMID:23828359 PMID:8818713 PMID:10826146 PMID:19854893 PMID:11094503 MolBase:752 PMID:9611769 PMID:24258718 PMID:15050588 UM-BBD_compID:c0131 HMDB:HMDB0001967 Drug_Central:4256 PMID:11584085 PMID:17448243 Gmelin:989 PMID:16656478 PMID:23384758 Reaxys:1900390 MetaCyc:CARBON-DIOXIDE Wikipedia:Carbon_dioxide PMID:16591971 PMID:17878298 PMID:16659660 PMID:8869828 PMID:9730350 Beilstein:1900390 KEGG:D00004" + "A one-carbon compound with formula CO2 in which the carbon is attached to each oxygen atom by a double bond. A colourless, odourless gas under normal conditions, it is produced during respiration by all animals, fungi and microorganisms that depend directly or indirectly on living or decaying plants for food." "CAS:124-38-9 PMID:19259576 PMID:8482095 PMID:19043767 KEGG:C00011 PDBeChem:CO2 PMID:17884085 PMID:11802652 PMID:17190796 PPDB:119 PMID:14639145 PMID:23828359 PMID:8818713 PMID:10826146 PMID:19854893 PMID:11094503 MolBase:752 PMID:9611769 PMID:24258718 PMID:15050588 UM-BBD_compID:c0131 HMDB:HMDB0001967 Drug_Central:4256 PMID:11584085 PMID:17448243 Gmelin:989 PMID:16656478 PMID:23384758 Reaxys:1900390 MetaCyc:CARBON-DIOXIDE Wikipedia:Carbon_dioxide PMID:16591971 PMID:17878298 PMID:16659660 PMID:8869828 PMID:9730350 KEGG:D00004" "A rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age." "Orphanet:98808" "The central nervous system is that part of the nervous system that consists of the brain and spinal cord. The central nervous system (CNS) is one of the two major divisions of the nervous system. The other is the peripheral nervous system (PNS) which is outside the brain and spinal cord." "ZFA:0000012 EMAPA:16470 BTO:0000227 FMA:55675 EHDAA:828 MAT:0000457 NIFSTD:birnlex_1099 EV:0100163 TAO:0000012 MA:0000167" "A painful blister of the periungual skin that is caused by herpes simplex virus type 1 or 2." "ICD9:054.6 DOID:8607 SCTID:43891009 MEDGEN:509122 UMLS:C0153042 NCIT:C128402" "Infections with bacteria of the family anaplasmataceae." "MESH:D000711 MeSH:D000711 MONDO:0006922 SCTID:422167001 DOID:4351" - "An inflammatory process affecting the spinal cord. Causes include viral infections, autoimmune disorders, vascular disorders, and toxic agents. Symptoms include weakness, paresthesia, sensory loss, pain, and incontinence." "SCTID:41370002 MONDO:0002565 MESH:D009187 NCIT:C26832 icd11.foundation:1993728609 UMLS:C0026975 ICD9:323.9 DOID:322 MEDGEN:10230 MedDRA:10028524" + "An inflammatory process affecting the spinal cord. Causes include viral infections, autoimmune disorders, vascular disorders, and toxic agents. Symptoms include weakness, paresthesia, sensory loss, pain, and incontinence." "SCTID:41370002 MONDO:0002565 MESH:D009187 NCIT:C26832 icd11.foundation:1993728609 UMLS:C0026975 DOID:322 ICD9:323.9 MEDGEN:10230 MedDRA:10028524" "Quantification of alpha-(1,6)-fucosyltransferase in a sample." "PMID:29875488" "A length unit which is equal to 10^[-12] m." "NCIt:C69148" "Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, weight deficiency, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and a sister and an autosomal recessive mode of inheritance has been suggested. There have been no further description in the literature since 1977." "ICD10:Q87.8" @@ -642,6 +640,7 @@ "Quantification of the amount of myristate 14:0 in a sample." "PMID:24816252" "A biopsy in which a device consisting of a wire with a polyester probe at the tip is used to collect bronchial epithelial lining fluid with bronchoscopy." "The determination of the amount of rna-binding protein 39 in a sample" "PMID:28240269" + "A planned process with the objective of collecting a specimen."@en "A planned process with the objective of collecting a specimen." "Any process that activates or increases the frequency, rate or extent of platelet aggregation. Platelet aggregation is the adhesion of one platelet to one or more other platelets via adhesion molecules." @@ -703,7 +702,6 @@ "LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol." "SCTID:49227001 MEDGEN:1830326 Orphanet:650 UMLS:C5779633 GARD:16539 NANDO:1200852" "MAT:0000002" - "A viral infectious disease that results_in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 or has_material_basis_in Human enterovirus 70, which are transmitted_by contaminated fomites or transmitted_by contact with contaminated hands. The infection has_symptom vascular dilation, has_symptom eyelid edema, has_symptom photophobia, has_symptom redness of the eyes, has_symptom watering of the eye, has_symptom conjunctival congestion, and has_symptom superficial punctate epithelial keratitis." "MeSH:D003232 NCIT:C34505 UMLS:C0009765 MESH:D003232 DOID:11227 SCTID:398264003 MONDO:0005634 MEDGEN:1094 ICD9:077.4 MedDRA:10067818" "The amount of a cyclin-dependent kinase 20 when measured in blood serum." "The determination of the amount of retinoblastoma-associated protein in a sample" "PMID:28240269" "The largest nerve of the body: origin, sacral plexus-L4-S3; it leaves the pelvis through the greater sciatic foramen; branches, divides into the tibial and common peroneal nerves, usually in lower third of thigh; distribution-see individual branches, in this table; modality, general sensory and motor." "NCIt:C52810 FMA:19034 BTO:0001221" @@ -820,7 +818,6 @@ "Quantification of epididymal-specific lipocalin-8 in a sample." "PMID:29875488" "An agent that binds to but does not activate adrenergic receptors thereby blocking the actions of endogenous or exogenous adrenergic agonists." "MeSH:D018674 NCIt:C72900" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RPS6KA3 gene." "MEDGEN:208676 UMLS:C0796225 DOID:0112019 OMIM:300844 GARD:22687 MESH:C563141" - "A curved elongated ridge that extends over the floor of the descending horn of each lateral ventricle of the brain and consists of gray matter covered on the ventricular surface with white matter;nThe hippocampus is a part of the temporal lobe, which has a well established role in learning, memory and emotion." "NCIt:C12444 MA:0000191 MAT:0000114 EV:0100180 FMA:62493 EMAPA:19148 NIFSTD:birnlex_721 MeSH:D006624 BTO:0000601 SAEL:51 NIFSTD:birnlex_726" "OMIM:613735 ICD10:Q93.5" "Echocardiography applying the Doppler effect, with velocity detection combined with range discrimination. Short bursts of ultrasound are transmitted at regular intervals and the echoes are demodulated as they return." "MeSH:D018619" "Porencephaly is characterized by a circumscribed intracerebral cavity of variable size that may be bordered by abnormal polymicrogyric gray matter. In extreme cases, this cavity may result in a communication between the pial surface and the ventricle; this is termed schizencephaly." "Orphanet:2940 MESH:D065708 UMLS:C4082173 GARD:7430 DOID:0060263 MedDRA:10036172 HP:0002132 MEDGEN:901502 NANDO:1201074 icd11.foundation:137059367" @@ -832,7 +829,7 @@ "The amount of a protein-glutamine gamma-glutamyltransferase K when measured in blood serum." "Either of a pair of complex endocrine organs near the anterior medial border of the kidney consisting of a mesodermal cortex that produces glucocorticoid, mineralocorticoid, and androgenic hormones and an ectodermal medulla that produces epinephrine and norepinephrine[BTO]." "NCIT:C12666 GAID:446 CALOHA:TS-0016 AAO:0010551 XAO:0000164 MESH:D000311 UMLS:C0001625 MAT:0000071 Wikipedia:Adrenal_gland EV:0100135 BTO:0000047 FMA:9604 galen:AdrenalGland SCTID:181127006 EFO:0000238 MIAA:0000071 EMAPA:18426 MA:0000116" "The amount of a apoptosis-related protein 3 when measured in blood." "PMID:37794183" - "A HETE having a (12S)-hydroxy group and (5Z)-, (8Z)-, (10E)- and (14Z)-double bonds." "PMID:7688315 PMID:12697425 CAS:54397-83-0 PMID:7511046 KEGG:C14777 PMID:11726629 PMID:11158968 Beilstein:2656104 LIPID_MAPS_instance:LMFA03060007 PMID:7593207 PMID:2517876 PMID:7540838 PMID:17963719 PMID:7683691 KNApSAcK:C00000424 PMID:11756509 PMID:25449650 PMID:7492988 Reaxys:2656104 PMID:15105833 PMID:3026490 PMID:10952974" + "A HETE having a (12S)-hydroxy group and (5Z)-, (8Z)-, (10E)- and (14Z)-double bonds." "PMID:7688315 PMID:12697425 CAS:54397-83-0 PMID:7511046 KEGG:C14777 PMID:11726629 PMID:11158968 LIPID_MAPS_instance:LMFA03060007 PMID:7593207 PMID:2517876 PMID:7540838 PMID:17963719 PMID:7683691 KNApSAcK:C00000424 PMID:11756509 PMID:25449650 PMID:7492988 Reaxys:2656104 PMID:15105833 PMID:3026490 PMID:10952974" "A neoplasm (disease) that involves the major salivary gland." "UMLS:C0345599 NCIT:C4407 SCTID:126787005 MEDGEN:83383" "The amount of a fibrinogen alpha chain when measured in blood." "PMID:37794183" "Quantification of sphingomyelin (d18:1/25:0, d19:0/24:1, d20:1/23:0, d19:1/24:0) in a sample." @@ -902,7 +899,6 @@ "Quantification of the amount of Taurocholic acid sodium salt hydrate in a sample." "PMID:33634981" "quantification of an individual's base metabolic rate, the minimum amount of energy required to sustain life while at complete rest, including the body being in a post-absorptive state (ie the digestive system is inactive). BMR differs from RMR because BMR measurements must meet total physiological equilibrium whereas RMR conditions of measurement can be altered and defined by the contextual limitations." - "Tumors of the UTERUS." "NCIT:C3435 MeSH:D014594 DOID:363 UMLS:C0042138 ONCOTREE:UTERUS NCIt:C3435 ICD10:D26 SCTID:126908007 MEDGEN:12030 MedDRA:10046803 ICD9:239.5 MONDO:0021353" "An abnormality of the soft palate." "UMLS:C4021984" "Infections of the respiratory tract with fungi of the genus ASPERGILLUS. Infections may result in allergic reaction (ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS), colonization in pulmonary cavities as fungus balls (MYCETOMA), or lead to invasion of the lung parenchyma (INVASIVE PULMONARY ASPERGILLOSIS)." "SNOMEDCT:6042001 MedDRA:10059259 UMLS:C2350529 MESH:D055732 MEDGEN:390019 DOID:0050153 MONDO:0000266 MeSH:D055732" "Single nucleus exome sequencing (SNES)" "PMID:25853327" @@ -911,9 +907,8 @@ "The determination of the amount of glia-derived nexin in a sample" "PMID:28240269" "The amount of a sulfhydryl oxidase 2 when measured in blood serum." - "The part of the stomach attached to the esophagus. The cardia begins immediately distal to the z-line of the gastroeosphageal junction, where the squamous epithelium of the esophagus gives way to the columnar epithelium of the gastrointestinal tract[WP]." "MESH:D002299 FMA:14561 SCTID:362138004 GAID:319 NCIT:C12256 EMAPA:35811 Wikipedia:Cardia BTO:0000198 UMLS:C0007144 MA:0001609" + "The part of the stomach attached to the esophagus. The cardia begins immediately distal to the z-line of the gastroeosphageal junction, where the squamous epithelium of the esophagus gives way to the columnar epithelium of the gastrointestinal tract[WP]." "MESH:D002299 FMA:14561 SCTID:362138004 GAID:319 NCIT:C12256 EMAPA:35811 BTO:0000198 Wikipedia:Cardia UMLS:C0007144 MA:0001609" - "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults." "MedDRA:10049202 UMLS:C0006272 NANDO:1200745 MONDO:0015265 NANDO:2200209 MeSH:D001989 DOID:2799 SCTID:40100001 icd11.foundation:592711730 Orphanet:1303 ICD9:466.19 ICD9:491.8 GARD:5961 HP:0011946 NANDO:2100039 MEDGEN:665" "CS57875 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158899&type=germplasm" "The quantification of diacylglycerol 30:1 levels in a sample, typically blood " "PMID:34503513" "Quantification of the amount of gamma-glutamylglutamate in a sample." "PMID:24816252" @@ -943,7 +938,7 @@ "Chronic form of otomycosis." "UMLS:C0155396 MEDGEN:509951 ICD9:380.15 SCTID:111898002 DOID:10519" "MESH:C563745 UMLS:C1836437 OMIM:609296 MEDGEN:332208" "A carcinoma with apocrine differentiation arising from the sweat glands. It presents as single or multiple nodular lesions which may be ulcerated or hemorrhagic and is usually in the axilla and less often in the anogenital region. It grows in the dermis and infiltrates subcutaneous tissues. It is characterized by the presence of large cells with abundant eosinophilic cytoplasm and large often vesicular nuclei. Most cases are slow growing tumors and have a prolonged course." "MEDGEN:569650 UMLS:C0334346 ICDO:8401/3 NCIT:C4169 DOID:4933" - "A straight-chain saturated fatty acid that is butane in which one of the terminal methyl groups has been oxidised to a carboxy group." "Reaxys:906770 Wikipedia:Butyric_acid PMID:21699495 PMID:11305323 PMID:22322557 PMID:22038864 KNApSAcK:C00001180 PMID:14962641 PMID:22466881 PMID:11238216 PMID:15938880 PMID:10956204 PMID:13678314 PMID:10736622 HMDB:HMDB0000039 PMID:19703412 PMID:22339023 Beilstein:906770 PDBeChem:BUA DrugBank:DB03568 LIPID_MAPS_instance:LMFA01010004 PMID:15810631 PMID:19318247 PMID:22194341 Gmelin:26242 CAS:107-92-6 MetaCyc:BUTYRIC_ACID PMID:11208715 KEGG:C00246 PMID:12068484 PMID:15809727 PMID:1542095 PMID:19366864 PMID:11201044" + "A straight-chain saturated fatty acid that is butane in which one of the terminal methyl groups has been oxidised to a carboxy group." "Reaxys:906770 Wikipedia:Butyric_acid PMID:21699495 PMID:11305323 PMID:22322557 PMID:22038864 KNApSAcK:C00001180 PMID:14962641 PMID:22466881 PMID:11238216 PMID:15938880 PMID:10956204 PMID:13678314 PMID:10736622 HMDB:HMDB0000039 PMID:19703412 PMID:22339023 PDBeChem:BUA DrugBank:DB03568 LIPID_MAPS_instance:LMFA01010004 PMID:15810631 PMID:19318247 PMID:22194341 Gmelin:26242 CAS:107-92-6 MetaCyc:BUTYRIC_ACID PMID:11208715 KEGG:C00246 PMID:12068484 PMID:15809727 PMID:1542095 PMID:19366864 PMID:11201044" "Quantification of 1-eicosapentaenoylglycerophosphocholine (20:5n3) in a sample." "Human ovarian teratocarcinoma cell line derived from metastasis in ascites (ATCC catalog number CRL-1572)" "CLO:0008350 RRID:CVCL_0479 BTO:0001591" @@ -1039,7 +1034,7 @@ "A B220-positive CD38-positive unswitched memory B cell is a CD38-positive unswitched memory B cell that has the phenotype B220-positive, CD38-positive, IgD-positive, CD138-negative, and IgG-negative." "The determination of the amount of neural cell adhesion molecule L1 in a sample" "PMID:28240269" - "Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine)." "Reactome:R-HSA-1604752 Reactome:R-HSA-1604690 Reactome:R-HSA-140599 Reactome:R-HSA-9023196 Reactome:R-HSA-1602488 Reactome:R-HSA-9666383 Reactome:R-HSA-2129357 Reactome:R-HSA-2514823 Reactome:R-HSA-140700 Reactome:R-HSA-2471842 Reactome:R-HSA-9673223 Reactome:R-HSA-1604722 Reactome:R-HSA-9710106 Reactome:R-HSA-183130 Reactome:R-HSA-9023633 Reactome:R-HSA-183122 Reactome:R-HSA-1602458 Reactome:R-HSA-1912369 Reactome:R-HSA-8865275 Reactome:R-HSA-9770187 Reactome:R-HSA-9023626 Reactome:R-HSA-1604359 Reactome:R-HSA-1474197 Reactome:R-HSA-9023178 Reactome:R-HSA-174551 Reactome:R-HSA-8874145 Reactome:R-HSA-140777 Reactome:R-HSA-1592314 Reactome:R-HSA-3785684 Reactome:R-HSA-140769 Reactome:R-HSA-381135 Reactome:R-HSA-2214330 Reactome:R-HSA-1602473 Reactome:R-HSA-8874212 Reactome:R-HSA-2534206 Reactome:R-HSA-8855825 Reactome:R-HSA-158311 Reactome:R-HSA-140664 Reactome:R-HSA-1454843 Reactome:R-HSA-3814820 Reactome:R-HSA-171288 Reactome:R-HSA-8874186 Reactome:R-HSA-9694287 Reactome:R-HSA-158747 Reactome:R-HSA-9033530 EC:3.4.21.- Reactome:R-HSA-5210912 Reactome:R-HSA-2168923 Reactome:R-HSA-6800200 Reactome:R-HSA-6800299 Reactome:R-HSA-2514772 Reactome:R-HSA-5691512 Reactome:R-HSA-2534160 Reactome:R-HSA-1602466 Reactome:R-HSA-158137 Reactome:R-HSA-265301 Reactome:R-HSA-1592371 Reactome:R-HSA-9686731 Reactome:R-HSA-9668365 Reactome:R-HSA-173680 Reactome:R-HSA-976743 Reactome:R-HSA-1566981 Reactome:R-HSA-166753 Reactome:R-HSA-3788061 Reactome:R-HSA-158925 Reactome:R-HSA-186785 Reactome:R-HSA-400496 Reactome:R-HSA-1604731 Reactome:R-HSA-1799329 Reactome:R-HSA-977371 Reactome:R-HSA-9670874 Reactome:R-HSA-5210935 Reactome:R-HSA-8874205 Reactome:R-HSA-1655842 Reactome:R-HSA-1592398 Reactome:R-HSA-9710263 Reactome:R-HSA-173745 Reactome:R-HSA-173631 Reactome:R-HSA-382061 Reactome:R-HSA-381446 Reactome:R-HSA-159771 Reactome:R-HSA-9655046 Reactome:R-HSA-158419 Reactome:R-HSA-9033529 Reactome:R-HSA-977615 Reactome:R-HSA-381798 Reactome:R-HSA-1604368 Reactome:R-HSA-3928657 Reactome:R-HSA-2471621 Reactome:R-HSA-163843 Reactome:R-HSA-159796 Reactome:R-HSA-1566962 Reactome:R-HSA-166817 Reactome:R-HSA-140823 Reactome:R-HSA-1592297 Reactome:R-HSA-8874206 Reactome:R-HSA-8865276 Reactome:R-HSA-3266557 Reactome:R-HSA-159728 Reactome:R-HSA-9023627 Reactome:R-HSA-5591040 Reactome:R-HSA-9830882 Reactome:R-HSA-422051 Reactome:R-HSA-170844 Reactome:R-HSA-8850831 Reactome:R-HSA-163798 Reactome:R-HSA-9694661 Reactome:R-HSA-1604712 Reactome:R-HSA-9033515 Reactome:R-HSA-6801687 Reactome:R-HSA-9829200 Reactome:R-HSA-140736 Reactome:R-HSA-1592270 Reactome:R-HSA-5578783 Reactome:R-HSA-9699007 Reactome:R-HSA-141040 Reactome:R-HSA-8849857 Reactome:R-HSA-1604763 Reactome:R-HSA-158942 Reactome:R-HSA-2022411 Reactome:R-HSA-159773 Reactome:R-HSA-2482180 Reactome:R-HSA-9662786 Reactome:R-HSA-9033524 Reactome:R-HSA-1592316 Reactome:R-HSA-159868 Reactome:R-HSA-9023632 Reactome:R-HSA-8849826 Reactome:R-HSA-1592362 Reactome:R-HSA-1592436 Reactome:R-HSA-422021 Reactome:R-HSA-1592278 Reactome:R-HSA-9829030 Reactome:R-HSA-187020 Reactome:R-HSA-9033520 Reactome:R-HSA-158313 Reactome:R-HSA-1912372 Reactome:R-HSA-381461 Reactome:R-HSA-158164 Reactome:R-HSA-9686710 Reactome:R-HSA-1604360 Reactome:R-HSA-2534260 Reactome:R-HSA-6800198 Reactome:R-HSA-2168960 Reactome:R-HSA-8852716 Reactome:R-HSA-166792 Reactome:R-HSA-2172405 Reactome:R-HSA-1604732 Reactome:R-HSA-140840 Reactome:R-HSA-173626 Reactome:R-HSA-5607002 Reactome:R-HSA-9033490 Reactome:R-HSA-9698988 Reactome:R-HSA-400459 Reactome:R-HSA-158750 Reactome:R-HSA-114697 Reactome:R-HSA-9769949 Reactome:R-HSA-158300 Reactome:R-HSA-141026 Reactome:R-HSA-140696 Reactome:R-HSA-381500 Reactome:R-HSA-400492 Reactome:R-HSA-1604741 Reactome:R-HSA-381466 Reactome:R-HSA-1566979 Reactome:R-HSA-9708859 Reactome:R-HSA-9830805 Reactome:R-HSA-158766 Reactome:R-HSA-158333 Reactome:R-HSA-140870 Reactome:R-HSA-9033506 Reactome:R-HSA-139893 Reactome:R-HSA-1181152 Reactome:R-HSA-159733 Reactome:R-HSA-158744 Reactome:R-HSA-9668253 Reactome:R-HSA-1602484 Reactome:R-HSA-8874204 Reactome:R-HSA-158982 Reactome:R-HSA-6807224 Reactome:R-HSA-9653249" + "Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine)." "Reactome:R-HSA-1604752 Reactome:R-HSA-1604690 Reactome:R-HSA-140599 Reactome:R-HSA-9023196 Reactome:R-HSA-1602488 Reactome:R-HSA-9666383 Reactome:R-HSA-2129357 Reactome:R-HSA-2514823 Reactome:R-HSA-140700 Reactome:R-HSA-2471842 Reactome:R-HSA-9673223 Reactome:R-HSA-1604722 Reactome:R-HSA-9710106 Reactome:R-HSA-183130 Reactome:R-HSA-9023633 Reactome:R-HSA-183122 Reactome:R-HSA-1602458 Reactome:R-HSA-1912369 Reactome:R-HSA-8865275 Reactome:R-HSA-9770187 Reactome:R-HSA-9023626 Reactome:R-HSA-1604359 Reactome:R-HSA-1474197 Reactome:R-HSA-9023178 Reactome:R-HSA-174551 Reactome:R-HSA-8874145 Reactome:R-HSA-140777 Reactome:R-HSA-1592314 Reactome:R-HSA-3785684 Reactome:R-HSA-140769 Reactome:R-HSA-381135 Reactome:R-HSA-2214330 Reactome:R-HSA-1602473 Reactome:R-HSA-8874212 Reactome:R-HSA-2534206 Reactome:R-HSA-8855825 Reactome:R-HSA-158311 Reactome:R-HSA-140664 Reactome:R-HSA-1454843 Reactome:R-HSA-3814820 Reactome:R-HSA-171288 Reactome:R-HSA-8874186 Reactome:R-HSA-9694287 Reactome:R-HSA-158747 Reactome:R-HSA-9033530 EC:3.4.21.- Reactome:R-HSA-5210912 Reactome:R-HSA-2168923 Reactome:R-HSA-6800200 Reactome:R-HSA-6800299 Reactome:R-HSA-2514772 Reactome:R-HSA-5691512 Reactome:R-HSA-2534160 Reactome:R-HSA-1602466 Reactome:R-HSA-158137 Reactome:R-HSA-265301 Reactome:R-HSA-1592371 Reactome:R-HSA-9686731 Reactome:R-HSA-9668365 Reactome:R-HSA-173680 Reactome:R-HSA-9839367 Reactome:R-HSA-976743 Reactome:R-HSA-1566981 Reactome:R-HSA-166753 Reactome:R-HSA-3788061 Reactome:R-HSA-158925 Reactome:R-HSA-186785 Reactome:R-HSA-400496 Reactome:R-HSA-1604731 Reactome:R-HSA-1799329 Reactome:R-HSA-977371 Reactome:R-HSA-9670874 Reactome:R-HSA-5210935 Reactome:R-HSA-8874205 Reactome:R-HSA-1655842 Reactome:R-HSA-1592398 Reactome:R-HSA-9710263 Reactome:R-HSA-173745 Reactome:R-HSA-173631 Reactome:R-HSA-382061 Reactome:R-HSA-381446 Reactome:R-HSA-159771 Reactome:R-HSA-9655046 Reactome:R-HSA-158419 Reactome:R-HSA-9033529 Reactome:R-HSA-977615 Reactome:R-HSA-381798 Reactome:R-HSA-1604368 Reactome:R-HSA-3928657 Reactome:R-HSA-2471621 Reactome:R-HSA-163843 Reactome:R-HSA-159796 Reactome:R-HSA-1566962 Reactome:R-HSA-166817 Reactome:R-HSA-140823 Reactome:R-HSA-1592297 Reactome:R-HSA-8874206 Reactome:R-HSA-8865276 Reactome:R-HSA-3266557 Reactome:R-HSA-159728 Reactome:R-HSA-9023627 Reactome:R-HSA-5591040 Reactome:R-HSA-9830882 Reactome:R-HSA-422051 Reactome:R-HSA-170844 Reactome:R-HSA-8850831 Reactome:R-HSA-163798 Reactome:R-HSA-9694661 Reactome:R-HSA-1604712 Reactome:R-HSA-9033515 Reactome:R-HSA-6801687 Reactome:R-HSA-9829200 Reactome:R-HSA-140736 Reactome:R-HSA-1592270 Reactome:R-HSA-5578783 Reactome:R-HSA-9699007 Reactome:R-HSA-141040 Reactome:R-HSA-8849857 Reactome:R-HSA-1604763 Reactome:R-HSA-158942 Reactome:R-HSA-2022411 Reactome:R-HSA-159773 Reactome:R-HSA-2482180 Reactome:R-HSA-9662786 Reactome:R-HSA-9033524 Reactome:R-HSA-1592316 Reactome:R-HSA-159868 Reactome:R-HSA-9023632 Reactome:R-HSA-8849826 Reactome:R-HSA-1592362 Reactome:R-HSA-1592436 Reactome:R-HSA-422021 Reactome:R-HSA-1592278 Reactome:R-HSA-9829030 Reactome:R-HSA-187020 Reactome:R-HSA-9033520 Reactome:R-HSA-158313 Reactome:R-HSA-1912372 Reactome:R-HSA-381461 Reactome:R-HSA-158164 Reactome:R-HSA-9686710 Reactome:R-HSA-1604360 Reactome:R-HSA-2534260 Reactome:R-HSA-6800198 Reactome:R-HSA-2168960 Reactome:R-HSA-8852716 Reactome:R-HSA-166792 Reactome:R-HSA-2172405 Reactome:R-HSA-1604732 Reactome:R-HSA-140840 Reactome:R-HSA-173626 Reactome:R-HSA-5607002 Reactome:R-HSA-9033490 Reactome:R-HSA-9698988 Reactome:R-HSA-400459 Reactome:R-HSA-158750 Reactome:R-HSA-114697 Reactome:R-HSA-9769949 Reactome:R-HSA-158300 Reactome:R-HSA-141026 Reactome:R-HSA-140696 Reactome:R-HSA-381500 Reactome:R-HSA-400492 Reactome:R-HSA-1604741 Reactome:R-HSA-381466 Reactome:R-HSA-1566979 Reactome:R-HSA-9708859 Reactome:R-HSA-9830805 Reactome:R-HSA-158766 Reactome:R-HSA-158333 Reactome:R-HSA-140870 Reactome:R-HSA-9033506 Reactome:R-HSA-139893 Reactome:R-HSA-1181152 Reactome:R-HSA-159733 Reactome:R-HSA-158744 Reactome:R-HSA-9668253 Reactome:R-HSA-1602484 Reactome:R-HSA-8874204 Reactome:R-HSA-158982 Reactome:R-HSA-6807224 Reactome:R-HSA-9653249" "OMIM:300534 ICD10:Q87.8" "The amount of a phosphatidylcholine 16:0_18:0 when measured in blood serum." "NCIt:C29159 MeSH:D017706 SNOMEDCT:108575001 PDBeChem:LPR Wikipedia:Lisinopril SNOMEDCT:386873009 Drug_Central:1587 Beilstein:4276619 LINCS:LSM-5756 CAS:76547-98-3 DrugBank:DB00722" @@ -1138,7 +1133,7 @@ "The amount of a putative deoxyribonuclease TATDN3 when measured in blood serum." "MEDGEN:1842739 GARD:20067 Orphanet:165985 UMLS:C5679570" - "A device with a rapidly rotating container that applies centrifugal force to its contents" "MO:476 SNOMEDCT:705223003" + "A device with a rapidly rotating container that applies centrifugal force to its contents"@en "MO:476 SNOMEDCT:705223003" "A narcotic or opioid substance, synthetic or semisynthetic agent producing profound analgesia, drowsiness, and changes in mood." "Quantification of the amount of X-24027 in a sample." "PMID:35050183" @@ -1343,7 +1338,6 @@ "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" "The ability to identify and manipulate individual sounds of spoken words." "Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation ; easy bruising; recurrent anemia ; and abnormal bleeding after surgery, dental work or childbirth. Platelet storage pool deficiencies may be genetic or acquired (non-genetic). They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Treatment is symptomatic." "SCTID:234474009 OMIM:185050 MedDRA:10084190 MONDO:0008495 MEDGEN:19351 SNOMEDCT:128099001 DOID:2223 MeSH:D010981 GARD:5034 Orphanet:734 MESH:D010981 UMLS:C0032197" - "Crohn's colitis is a type of Crohn's disease that affects the large intestine." "MONDO:0005532 ICD9:555.1 NANDO:1200446 DOID:0060192 UMLS:C0156147 MEDGEN:57618 MedDRA:10011400 NCIT:C35211" "The upper central lobe of the cerebral hemisphere, separated from the temporal lobe below by the lateral sulcus, but continuous at the posterior end of that sulcus, and separated from the frontal lobe by the central sulcus. Behind, it is continuous with the occipital lobe on the lateral surface, but separated from it by the parietooccipital sulcus on the medial surface." "EV:0100166 FMA:61826 MAT:0000506 BTO:0001001" "DOID:0050540 NCIT:C133087 OMIM:145900 GARD:9204 MEDGEN:3710 Orphanet:64748 SCTID:111499002 NORD:1037 UMLS:C0011195" "Component of the frontal lobe, lateral aspect. The rostral boundary is the first appearance of the superior frontal sulcus whereas the caudal boundary is the midpoint of the paracentral sulcus on the 'inflated' surface. The medial and lateral boundaries are the medial aspect of the frontal lobe and the superior frontal sulcus respectively (Christine Fennema-Notestine)." "DHBA:12115 Wikipedia:Superior_frontal_gyrus BAMS:SFG EFO:0001991 NCIT:C33674 HBA:4021 BTO:0004836 SCTID:279166005 UMLS:C0152296 BIRNLEX:1303 FMA:61857 neuronames:83" @@ -1353,7 +1347,7 @@ "Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure." "NANDO:1201036 MESH:C537699 UMLS:C1855681 NANDO:2200140 DOID:0111112 NCIT:C74998 OMIM:256100 Orphanet:93592 MEDGEN:343406 SCTID:444830001 GARD:18645" "The determination of the amount of complement component C9 in a sample" "PMID:28240269" "Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." "DOID:0060376 SCTID:721873007 MESH:C536531 Orphanet:2754 MEDGEN:411200 NCIT:C124841 GARD:4412 UMLS:C2745997 OMIM:277170" - "Renal fibrosis is the inevitable consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease. The pathogenesis of renal fibrosis is a progressive process that ultimately leads to end-stage renal failure, a devastating disorder that requires dialysis or kidney transplantation." "DOID:0050855 SNOMEDCT:197660000 MONDO:0000494 HP:0030760 SCTID:197660000 MEDGEN:508798 MP:0003985 PMID:16408108 UMLS:C0151650" + "Renal fibrosis is the inevitable consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease. The pathogenesis of renal fibrosis is a progressive process that ultimately leads to end-stage renal failure, a devastating disorder that requires dialysis or kidney transplantation." "DOID:0050855 SNOMEDCT:197660000 HP:0030760 MONDO:0000494 SCTID:197660000 MEDGEN:508798 MP:0003985 PMID:16408108 UMLS:C0151650" "Quantification of the amount of amphoterin-induced protein 2 measurement in a sample." "PMID:36168886" "quantification of the amount of [Pyruvate dehydrogenase acetyl-transferring] kinase isozyme 1, mitochondrial in a sample" "A tuberculosis that involves the ureter." "ICD9:016.20 DOID:827 SCTID:81359005 UMLS:C0152800 ICD9:016.2 MEDGEN:509076" @@ -1375,7 +1369,6 @@ "A hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques." "Orphanet:659 DOID:0112011 MEDGEN:590661 GARD:4075 UMLS:C0406761 OMIMPS:614594 MedDRA:10068842" "Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; autonomic nervous system diseases; sleep disorders; behavioral symptoms related to dysfunction of the limbic system; and neuroendocrine disorders." "UMLS:C0020655 DOID:1931 MEDGEN:6988 SCTID:399100005 MESH:D007027 ICD9:253.9" "The amount of a cyclic AMP-responsive element-binding protein 3 when measured in blood." "PMID:37794183" - "Inflammation of the cornea. [ NCIt:P378 ]" "ICD9:370 ICD9:370.8 MedDRA:10023332 UMLS:C0022568 DOID:4677 MedDRA:10023346 MESH:D007634 MEDGEN:44013 ICD10:H16 NCIT:C26805 MONDO:0003085 ICD9:370.9 ICD10CM:H16 SCTID:5888003" "Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated." "UMLS:C4706503 NORD:951 NCIT:C41377 MEDGEN:1643555 OMIM:613792 Orphanet:1620 MESH:C536804 GARD:3750 SCTID:763528002 DOID:0060417" "The determination of the amount of protein 4.1 in a sample" "PMID:28240269" "Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." "NANDO:2200469 Orphanet:28378 GARD:3105 NANDO:1200789 UMLS:C0268487 NCIT:C129032 MEDGEN:75687 DOID:0050725 MedDRA:10069463 OMIM:276600 icd11.foundation:1900229795 SCTID:4887000" @@ -1389,7 +1382,7 @@ "The amount of a BAG family molecular chaperone regulator 4 when measured in blood serum." "Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include CONFUSION; HALLUCINATIONS; and an extrapyramidal syndrome (PARKINSON DISEASE, SECONDARY) that includes rigidity; DYSTONIA; retropulsion; and TREMOR. (Adams, Principles of Neurology, 6th ed, p1213)" "MONDO:0017638 Orphanet:306682 MedDRA:10058951 GARD:21264 SCTID:88687001 ICD9:503 ORDO:Orphanet_306682 MESH:D020149 MeSH:D020149" "The amount of a zinc finger and BTB domain-containing protein 10 when measured in blood serum." - "A benign or malignant neoplasm that affects the wall of the jejunum. Representative examples include adenoma, carcinoma, and lymphoma." "DOID:3218 NCIT:C8401 MEDGEN:7187 UMLS:C0022374 SCTID:126834003 MESH:D007580" + "A benign or malignant neoplasm that affects the wall of the jejunum. Representative examples include adenoma, carcinoma, and lymphoma." "DOID:3218 NCIT:C8401 MEDGEN:7187 UMLS:C0022374 MESH:D007580 SCTID:126834003" "An IgG memory B cell is a class switched memory B cell that is class switched and expresses IgG on the cell surface." "The smooth stratified squamous epithelium that covers the outer surface of the cornea." "EFO:0001917 FMA:58263 ZFA:0001683 TAO:0002187 UMLS:C0459875 MESH:D019573 GAID:895 SCTID:368825001 EMAPA:17162 Wikipedia:Corneal_epithelium BTO:0000287 NCIT:C12928 MA:0001243 CALOHA:TS-0173 EHDAA2:0000319" "Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency." "NANDO:2200441 Orphanet:404553 UMLS:C3887654 MEDGEN:854497 OMIM:615688 GARD:12383 NANDO:2200450 NANDO:1200995" @@ -1444,7 +1437,6 @@ "A primary amyloidosis characterized by localized cutaneous amyloid deposition. This condition usually presents with itching (especially on the lower legs) and visible changes of skin hyperpigmentation and thickening that may be exacerbated by chronic scratching and rubbing. Primary localized cutaneous amyloidosis is often divided into macular and lichen subtypes although many affected individuals often show both variants coexisting. Lichen amyloidosis characteristically presents as a pruritic eruption of grouped hyperkeratotic papules with a predilection for the shins, calves, ankles and dorsa of feet and thighs. Papules may coalesce to form hyperkeratotic plaques that can resemble lichen planus, lichen simplex or nodular prurigo. Macular amyloidosis is characterized by small pigmented macules that may merge to produce macular hyperpigmentation, sometimes with a reticulate or rippled pattern. In macular and lichen amyloidosis, amyloid is deposited in the papillary dermis in association with grouped colloid bodies, thought to represent degenerate basal keratinocytes. The amyloid deposits probably reflect a combination of degenerate keratin filaments, serum amyloid P component, and deposition of immunoglobulins. PLCA3 inheritance is autosomal recessive.\n\nAmyloidosis cutis dyschromia is a rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare. [Orphanet_319635]" "OMIM:617920" "Virus diseases caused by the poxviridae." "SCTID:27240009 MONDO:0005850 UMLS:C0026143 MeSH:D011213 ICD9:051.1 ICD9:051.9 MEDGEN:44449 DOID:8729 MESH:D011213" "OBSOLETE. Chronic form of acquired peripheral neuropathy." "Orphanet:208974" - "Analyte role is a role borne by a molecular entity and realized in an analyte assay which achieves the objective to measure the magnitude/concentration/amount of the analyte in the entity bearing evaluant role" "The amount of a death-associated protein kinase 1 when measured in blood serum." @@ -1540,7 +1532,7 @@ "A cell within a host organism. Includes the host plasma membrane and any external encapsulating structures such as the host cell wall and cell envelope." "NCIt:C93037" "RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1)." "GARD:12394 SCTID:733084000 OMIM:612015 UMLS:C2677590 MESH:C567437 MEDGEN:383145 DOID:0080566 Orphanet:244310" - "A tetrahydropterin that is 2-amino-5,6,7,8-tetrahydropteridin-4(3H)-one in which a hydrogen at position 6 is substituted by a 1,2-dihydroxypropyl group (6R,1'R,2'S-enantiomer)." "Drug_Central:2612 PMID:10333495 PMID:21466737 PMID:23266371 PMID:4004257 PMID:23462988 PMID:22388642 PMID:23705856 PMID:22832064 Reaxys:4699705 PMID:23235653 PMID:23436109 Beilstein:4699705 KNApSAcK:C00018229 PMID:22112818 PMID:22310224 DrugBank:DB00360 CAS:27070-47-9 PMID:21646032 HMDB:HMDB0000787 PMID:23743404 PMID:22575621 Patent:US4713454 PDBeChem:H4B PMID:23430527 PMID:16510994 PMID:23690520 KEGG:D08505 PMID:22391997 PMID:23430545 KEGG:C00272 Patent:EP191335 MetaCyc:CPD-14053 CAS:17528-72-2 PMID:19627172 PMID:22110560 PMID:1297822 Wikipedia:Sapropterin PMID:23712020" + "A tetrahydropterin that is 2-amino-5,6,7,8-tetrahydropteridin-4(3H)-one in which a hydrogen at position 6 is substituted by a 1,2-dihydroxypropyl group (6R,1'R,2'S-enantiomer)." "Drug_Central:2612 PMID:10333495 PMID:21466737 PMID:23266371 PMID:4004257 PMID:23462988 PMID:22388642 PMID:23705856 PMID:22832064 Reaxys:4699705 PMID:23235653 PMID:23436109 KNApSAcK:C00018229 PMID:22112818 PMID:22310224 DrugBank:DB00360 CAS:27070-47-9 PMID:21646032 HMDB:HMDB0000787 PMID:23743404 PMID:22575621 Patent:US4713454 PDBeChem:H4B PMID:23430527 PMID:16510994 PMID:23690520 KEGG:D08505 PMID:22391997 PMID:23430545 KEGG:C00272 Patent:EP191335 MetaCyc:CPD-14053 CAS:17528-72-2 PMID:19627172 PMID:22110560 PMID:1297822 Wikipedia:Sapropterin PMID:23712020" "UMLS:C2931516 OMIM:300064 ICD10:Q87.0" "SV40-transformed skin fibroblast cell line derived from an FA-N patient with biallelic mutations in PALB2, a nonsense mutation (c.1802T>A, p.Y551*) on one allele and a loss of the other allele due to a genomic deletion, which result in the expression of a truncated PALB2 protein lacking the ability to bind BRCA2 and recruit BRCA2-RAD51 following DNA damage." "RRID:CVCL_D7EG PMID:35853885" "Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days." "SNOMEDCT_US:386692008 NCIt:C26829 ICD10:N92 SNOMEDCT:386692008 UMLS:C0025323" @@ -1573,7 +1565,6 @@ "Infections with bacteria of the genus FUSOBACTERIUM." "DOID:3758 ICD9:041.84 MONDO:0006765 SCTID:712657002 UMLS:C4039413 MeSH:D005674 MEDGEN:872278" "Quantification of ubiquilin-4 in a sample." "PMID:29875488" - "A disease involving the lens of camera-type eye. [database_cross_reference: MONDO:DesignPattern]" "MONDO:0001176 ICD9:379.39 ICD10:H27 NCIT:C26812 MEDGEN:892382 SCTID:10810001 ICD10CM:H25-H28 UMLS:C0549651 MESH:D007905 DOID:110" "Flowcell reverse transcription sequencing (FRT-seq) for strand-specific RNA-Seq" "PMID:22015844" "The amount of a pepsin A-4 when measured in blood serum." "Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies." "MEDGEN:477585 UMLS:C3275954 SCTID:721976003 OMIM:601612 Orphanet:1120 GARD:3378 MESH:C535708" @@ -1582,7 +1573,7 @@ "The amount of a fatty acid-binding protein 5 when measured in blood." "PMID:37794183" "Quantification of the amount of azelate (C9-DC) in a sample." "PMID:35347128" - "A 1,1-bis(phosphonic acid) that is methanebis(phosphonic acid) in which the two methylene hydrogens are replaced by hydroxy and 3-aminopropyl groups." "SNOMEDCT:391730008 PMID:25639838 PMID:25603732 KEGG:C07752 PMID:25445446 MetaCyc:ALENDRONATE Drug_Central:112 PMID:25636638 PMID:25619515 KEGG:D07119 Patent:US4705651 PMID:25595570 PMID:25577217 PMID:19630066 PDBeChem:AHD PMID:25442070 PMID:24676887 MeSH:D019386 CAS:66376-36-1 PMID:12657258 PMID:25592133 DrugBank:DB00630 PMID:25315260 HMDB:HMDB0001915 Wikipedia:Alendronic_acid Beilstein:2275403 SNOMEDCT:421552005 NCIt:C61625 PMID:16626694 Reaxys:2275403 LINCS:LSM-5831 Patent:BE903519 PMID:25461393" + "A 1,1-bis(phosphonic acid) that is methanebis(phosphonic acid) in which the two methylene hydrogens are replaced by hydroxy and 3-aminopropyl groups." "SNOMEDCT:391730008 PMID:25639838 PMID:25603732 KEGG:C07752 PMID:25445446 MetaCyc:ALENDRONATE Drug_Central:112 PMID:25636638 PMID:25619515 KEGG:D07119 Patent:US4705651 PMID:25595570 PMID:25577217 PMID:19630066 PDBeChem:AHD PMID:25442070 PMID:24676887 MeSH:D019386 CAS:66376-36-1 PMID:12657258 PMID:25592133 DrugBank:DB00630 PMID:25315260 HMDB:HMDB0001915 Wikipedia:Alendronic_acid SNOMEDCT:421552005 NCIt:C61625 PMID:16626694 Reaxys:2275403 LINCS:LSM-5831 Patent:BE903519 PMID:25461393" "Quantification of the ratio of 3-Indolepropionic acid to Kynurenic acid ratio in a sample." "PMID:33634981" "A (2R)-2-hydroxy monocarboxylic acid anion resulting from the removal of a proton from the carboxylic acid group of (R)-3-phenyllactic acid." "The widespread involvement of the skin by a scaly, erythematous dermatitis occurring either as a secondary or reactive process to an underlying cutaneous disorder (e.g., atopic dermatitis, psoriasis, etc.), or as a primary or idiopathic disease. It is often associated with the loss of hair and nails, hyperkeratosis of the palms and soles, and pruritus. (From Dorland, 27th ed)" "ICD10:L26 MESH:D003873 MONDO:0043233 UMLS:C0011606 SCTID:399992009 MEDGEN:3767 MedDRA:10015665 NCIT:C39646" @@ -1672,7 +1663,7 @@ "human skin melanoma cell line from a 78 year old Caucasian male" "This syndrome is characterized by the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism." "SCTID:720981000 MEDGEN:321990 Orphanet:1014 MESH:C563370 UMLS:C1832593 OMIM:601217 GARD:16553" - "A cinchona alkaloid consisting of cinchonine with the hydrogen at the 6-position of the quinoline ring substituted by methoxy." "Beilstein:91866 PMID:14971904 PMID:23861085 PMID:12699389 PMID:16570918 DrugBank:DB00908 Drug_Central:2346 CAS:56-54-2 Reaxys:91866 PMID:15225721 PMID:14973303 PMID:24130427 PMID:8337232 PMID:15328252 LINCS:LSM-3325 KEGG:D08458 PMID:15089813 PMID:18395298 PMID:18788725 PMID:9864343 PMID:12477351 PMID:18324762 PMID:15270556 PMID:445303 PMID:17870541 PMID:17228875 KEGG:C06527 PMID:17132069 PMID:17249648" + "A cinchona alkaloid consisting of cinchonine with the hydrogen at the 6-position of the quinoline ring substituted by methoxy." "PMID:14971904 PMID:23861085 PMID:12699389 PMID:16570918 DrugBank:DB00908 Drug_Central:2346 CAS:56-54-2 Reaxys:91866 PMID:15225721 PMID:14973303 PMID:24130427 PMID:8337232 PMID:15328252 LINCS:LSM-3325 KEGG:D08458 PMID:15089813 PMID:18395298 PMID:18788725 PMID:9864343 PMID:12477351 PMID:18324762 PMID:15270556 PMID:445303 PMID:17870541 PMID:17228875 KEGG:C06527 PMID:17132069 PMID:17249648" "A transitional stage B cell that expresses surface IgM and IgD, and CD62L. This cell type appears to be an anergic B cell that does not proliferate upon BCR signaling, is found in the spleen and lymph nodes, and has the phenotype surface IgM-positive, surface IgD-positive, CD21-positive, CD23-positive, CD62L-positive, and CD93-positive. This cell type has also been described as IgM-low, CD19-positive, B220-positive, AA4-positive, and CD23-positive (i.e. this cell-type is distinguished from T2 cells by surface expression of IgM)." @@ -1883,7 +1874,7 @@ "A method used for finding which RNA species interact with a particular RNA-binding protein. It involves immunoprecipitation with antibodies for the protein and then isolation of the RNAs associated with the protein. Unlike CLIP-seq, no cross-linking of RNAs and proteins is carried out prior to immunoprecipitation." "The volume of the caudate nucleus, a brain structure implicated in many common neurological and psychiatric disorders" - "A dibenzoazepine that is 10,11-dihydro-5H-dibenzo[b,f]azepine which is substituted by chlorine at position 3 and in which the hydrogen attached to the nitrogen is replaced by a 3-(dimethylamino)propyl group. One of the more sedating tricyclic antidepressants, it is used as the hydrochloride salt for the treatment of depression as well as obsessive-compulsive disorder and phobias." "CAS:303-49-1 KEGG COMPOUND:303-49-1 ChemIDplus:1323477 Wikipedia:Clomipramine PMID:19747949 PMID:12007764 SNOMEDCT:96209002 KEGG COMPOUND:C06918 ChEMBL:100996 CiteXplore:12084414 PMID:19810911 KEGG:D07727 Beilstein:1323477 Reaxys:1323477 SNOMEDCT:372903001 PMID:17471183 PDBeChem:CXX Patent:CH371799 LINCS:LSM-3171 Patent:US3467650 CiteXplore:16085036 CiteXplore:17471183 CiteXplore:19810911 PMID:16085036 NIST Chemistry WebBook:303-49-1 KEGG:C06918 NCIt:C61608 DrugBank:DB01242 MeSH:D002997 Drug_Central:701 PMID:12084414 ChemIDplus:303-49-1 CiteXplore:12007764" + "A dibenzoazepine that is 10,11-dihydro-5H-dibenzo[b,f]azepine which is substituted by chlorine at position 3 and in which the hydrogen attached to the nitrogen is replaced by a 3-(dimethylamino)propyl group. One of the more sedating tricyclic antidepressants, it is used as the hydrochloride salt for the treatment of depression as well as obsessive-compulsive disorder and phobias." "CAS:303-49-1 KEGG COMPOUND:303-49-1 ChemIDplus:1323477 Wikipedia:Clomipramine PMID:19747949 PMID:12007764 SNOMEDCT:96209002 KEGG COMPOUND:C06918 ChEMBL:100996 CiteXplore:12084414 PMID:19810911 KEGG:D07727 Reaxys:1323477 SNOMEDCT:372903001 PMID:17471183 PDBeChem:CXX Patent:CH371799 LINCS:LSM-3171 Patent:US3467650 CiteXplore:16085036 CiteXplore:17471183 CiteXplore:19810911 PMID:16085036 NIST Chemistry WebBook:303-49-1 KEGG:C06918 NCIt:C61608 DrugBank:DB01242 MeSH:D002997 Drug_Central:701 PMID:12084414 ChemIDplus:303-49-1 CiteXplore:12007764" "UMLS:C1851583" "The amount of a pre-mRNA-splicing regulator WTAP when measured in blood serum." "Quantification of ADP-ribosylation factor-binding protein GGA1 in a sample." "PMID:29875488" @@ -1946,7 +1937,6 @@ "A rigid yet dynamic structure surrounding the plasma membrane that affords protection from stresses and contributes to cell morphogenesis, consisting of extensively cross-linked glycoproteins and carbohydrates. The glycoproteins may be modified with N- or O-linked carbohydrates, or glycosylphosphatidylinositol (GPI) anchors; the polysaccharides are primarily branched glucans, including beta-linked and alpha-linked glucans, and may also include chitin and other carbohydrate polymers, but not cellulose or pectin. Enzymes involved in cell wall biosynthesis are also found in the cell wall. Note that some forms of fungi develop a capsule outside of the cell wall under certain circumstances; this is considered a separate structure." "a line of neuroblasts along the sides of fish and amphibia that detect vibrations and pressure changes" "AAO:0000269 ZFA:0000034 MFO:0003620 XAO:0000095 TAO:0000282 MAT:0000249" "Any type 1 interferonopathies in which the cause of the disease is a variation in the IFIH1 gene. Individuals with variants in IFIH1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and singleton-Merten syndrome." - "A Herpesviridae infectious disease that results_in infection in animals and humans, has_agent Cytomegalovirus, which is transmitted_by contact with the infected person's bodily fluids or transmitted_by sexual contact, or transmitted_by blood transfusions." "MedDRA:10011831 NCIT:C53649 MEDGEN:8239 ICD9:078.5 NCIt:C112314 MESH:D003586 MeSH:D003586 SCTID:28944009 MONDO:0005132 UMLS:C0010823 SNOMEDCT:28944009 ICD10:B25" "The amount of a ubiquitin-conjugating enzyme E2 N when measured in blood serum." "Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees." "MEDGEN:854768 DOID:0111569 icd11.foundation:96951767 Orphanet:3086 SCTID:711162004 MESH:C536352 ICD10CM:H35.5 UMLS:C3888099 OMIM:193220 GARD:5507" "OMIM:618436 MEDGEN:1676839 DOID:0111602 UMLS:C5193098" @@ -2025,7 +2015,6 @@ "The amount of a ADAM DEC1 when measured in blood serum." "Orphanet:99853" "The amount of a regulator of chromosome condensation when measured in blood." "PMID:37794183" - "a form of allergic contact dermatitis in which the allergen must be activated by light to sensitize the allergic response, and to cause a rash or other systemic effects on subsequent exposure. The second and subsequent exposures produce photoallergic skin conditions which are often eczematous. In rare cases the victims die." "MESH:D017484 MedDRA:10034972 UMLS:C0162830 MEDGEN:58188 SCTID:53597009 MONDO:0006598 DOID:3818 DOID:4407 NCIT:C4816 Wikipedia:Photodermatitis" "Virus diseases caused by the hepadnaviridae." "MESH:D018347 MONDO:0005786 MEDGEN:64649 UMLS:C0206746 MeSH:D018347 DOID:5497" "Anaplastic large cell lymphoma (ALCL) is a rare and aggressive peripheral T-cell non-Hodgkin lymphoma, belonging to the group of CD30-positive lymphoproliferative disorders, which affects lymph nodes and extranodal sites. It is comprised of two sub-types, based on the expression of a protein called anaplastic lymphoma kinase (ALK): ALK positive and ALK negative ALCL." "ONCOTREE:ALCL MESH:D017728 HGNC:427 ICD9:200.60 UMLS:C0206180 NANDO:2200021 NCIT:C3720 ICDO:9714/3 ICD10:C84.7 SCTID:277637000 MONDO:0020325 EFO:0003032 GARD:0003112 ICD10:C84.6 COHD:441235 DOID:0050744 Orphanet:98841 GARD:3112 MEDGEN:61533 ICD9:200.6" "The amount of a transaldolase when measured in blood." "PMID:37794183" @@ -2168,7 +2157,7 @@ "The determination of the amount of matrilin-3 in a sample" "PMID:28240269" "An axonal neuropathy of peripheral sensory nerves." "UMLS:C1842587 UMLS:C1970883" - "A device which deposits biological material onto a substrate in a defined pattern." "MO:697" + "A device which deposits biological material onto a substrate in a defined pattern."@en "MO:697" "OBSOLETE. Duchenne and Becker muscular dystrophies (DMD and BMD) are neuromuscular diseases characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle." "Orphanet:262" "A severe degree of muscular hypotonia characterized by markedly reduced muscle tone." "UMLS:C1839630" @@ -2285,7 +2274,6 @@ "Quantification of ERO1-like protein alpha in a sample." "PMID:29875488" "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus with rifampicin, an antibiotic used to fight several types of bacterial infections, including tuberculosis, leprosy and Legionnaire's disease" "The amount of a X-box-binding protein 1 when measured in blood serum." - "Precordial pain at rest, which may precede a MYOCARDIAL INFARCTION." "MONDO:0006805 UMLS:C0002965 MedDRA:10022554 MESH:D000789 ICD10CM:I20.0 DOID:8805 MeSH:D000789 MEDGEN:296 ICD9:411.1" "OMIM:300491 ICD10:Q87.8" "A diffuse malignant mesothelioma arising from the pleura and less often the peritoneum. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen." "MONDO:0006407 DOID:4488 MEDGEN:137774 UMLS:C0334513 NCIT:C45655 EFO:1000521" @@ -2459,7 +2447,7 @@ "OBSOLETE. An instance of avascular necrosis that is caused by a modification of the individual's genome." "Orphanet:399388" "A pulmonary alveolar epithelial cell that modulates the fluid surrounding the alveolar epithelium by secreting and recycling surfactants. This cell type also contributes to tissue repair and can differentiate after injury into a pulmonary alveolar type 1 cell. This cuboidal cell is thicker than squamous alveolar cells, have a rounded apical surface that projects above the level of surrounding epithelium. The free surface is covered by short microvilli." "BTO:0000538 FMA:62501" "The determination of the amount of calcium/calmodulin-dependent protein kinase type II subunit alpha in a sample" "PMID:28240269" - "A phosphorodiamide that is 1,3,2-oxazaphosphinan-2-amine 2-oxide substituted by two 2-chloroethyl groups at the amino nitrogen atom." "NCIt:C405 PMID:7850793 SNOMEDCT:387420009 HMDB:HMDB0014672 DrugBank:DB00531 MeSH:D003520 KEGG:D07760 KEGG:C07888 Drug_Central:758 CAS:50-18-0 Beilstein:11744 SNOMEDCT:74470007 Reaxys:11744 Wikipedia:Cyclophosphamide PMID:15711186 LINCS:LSM-4961" + "A phosphorodiamide that is 1,3,2-oxazaphosphinan-2-amine 2-oxide substituted by two 2-chloroethyl groups at the amino nitrogen atom." "NCIt:C405 PMID:7850793 SNOMEDCT:387420009 HMDB:HMDB0014672 DrugBank:DB00531 MeSH:D003520 KEGG:D07760 KEGG:C07888 Drug_Central:758 CAS:50-18-0 SNOMEDCT:74470007 Reaxys:11744 Wikipedia:Cyclophosphamide PMID:15711186 LINCS:LSM-4961" "Genome-wide mapping of uncapped transcripts (GMUCT)" "PMID:23867340" "The result of a measurement of circulating antibodies specific to a staphylococcus phage virus antigen." "PMID:37164013" "A glycerophosphocholine that is an alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 38 carbons and 0 double bonds." @@ -2526,7 +2514,6 @@ "Quantification of the amount of X-12850 in a sample." "PMID:24816252" "Wide continuum of associated cognitive and neurobehavioral disorders, including, but not limited to, three core-defining features: impairments in socialization, impairments in verbal and nonverbal communication, and restricted and repetitive patterns of behaviors. (DSM, 1994)" "OMIMPS:209850 MEDGEN:307153 OMIM:606053 icd11.foundation:437815624 OMIM:209850 MONDO:0005258 UMLS:C1510586 SCTID:231536004 NCIT:C88412 Orphanet:106 DOID:0060041 SCTID:408856003 MedDRA:10063844 NCIt:C88412 MeSH:D002659" "quantification of the volume of the nucleus accumbens, a region of the basal forebrain rostral to the preoptic area of the hypothalamus and which together with the olfactory tubercle forms the ventral striatum" - "A subtype of MICROSCOPIC COLITIS, characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. Microscopic examination of biopsy samples taken from the COLON show larger-than-normal band of subepithelial COLLAGEN." "MeSH:D046729 ICD9:558.9 MESH:D046729 icd11.foundation:1322041450 ICD10CM:K52.831 ORDO:Orphanet_36205 Orphanet:36205 MONDO:0000703 SCTID:19311003 NCIT:C27021 MedDRA:10048928 DOID:0060183 UMLS:C0238067 MEDGEN:65945 DOID:60183" "Chromosome 1q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on thelong arm (q) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." "UMLS:C5679674 GARD:8669 MEDGEN:1825942 icd11.foundation:296620919 Orphanet:262001" "The amount of a Leu-Glu when measured in blood." "PMID:37253714" "A benign or malignant, usually non-functioning, extra-adrenal paraganglioma that arises from paraganglia located along the parasympathetic nerves. Representative examples include aorticopulmonary, carotid body, jugulotympanic, and mediastinal paragangliomas." "MEDGEN:90779 NCIT:C4217 UMLS:C0334416 ICDO:8682/1" @@ -2661,7 +2648,7 @@ "Simple, dry, indehiscent fruit with a single seed that is fused to the ovary wall, example: wheat." "SNOMEDCT:264331002 NCIt:C48497 BTO:0000208" - "A saturated organic heteromonocyclic parent that is a three-membered heterocycle of two carbon atoms and one oxygen atom." "Beilstein:102378 HMDB:HMDB0031305 CAS:75-21-8 PMID:11437638 Wikipedia:Oxirane KEGG:D03474 KEGG:C06548 PMID:3932500 PMID:25005741 Gmelin:676 PMID:24882394 PMID:24313866 Reaxys:102378 UM-BBD_compID:c0527" + "A saturated organic heteromonocyclic parent that is a three-membered heterocycle of two carbon atoms and one oxygen atom." "HMDB:HMDB0031305 CAS:75-21-8 PMID:11437638 Wikipedia:Oxirane KEGG:D03474 KEGG:C06548 PMID:3932500 PMID:25005741 Gmelin:676 PMID:24882394 PMID:24313866 Reaxys:102378 UM-BBD_compID:c0527" "The monocarboxylic acid anion formed from (2-hydroxyphenyl)acetic acid by loss of a proton from the carboxy group; major microspecies at pH 7.3." "PMID:5125336 Reaxys:3665522 PMID:5475034 MetaCyc:CPD-11495 PMID:12750" "Quantification of the levels of antibodies against biotherapeutic agents. Such antibodies can reduce treatment efficacy by neutralizing circulating immune-biologicals and/or promoting their clearance." "PMID:31600487" "Quantification of the amount of isoleucylglycine in a sample." "PMID:35347128" @@ -2699,7 +2686,6 @@ "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CRB1 gene." "MEDGEN:374019 UMLS:C1838647 MESH:C563999 GARD:10376 ICD10CM:H35.5 DOID:0110358 OMIM:600105" "An immature natural killer cell that is NK1.1-positive, DX5-positive, Ly49-positive, CD27-low and CD11b-low. This cell type is found in high numbers in the liver." - "A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted_by trombiculid mites (Leptotrombidium deliense). The infection has_symptom fever, has_symptom headache, has_symptom muscle pain, has_symptom cough, has_symptom maculopapular rash, has_symptom eschar, has_symptom splenomegaly and has_symptom lymphadenopathy." "MONDO:0019365 ICD9:081.2 DOID:13371 SCTID:271425001 MeSH:D012612 MedDRA:10039766 Orphanet:83317 MESH:D012612 MEDGEN:48591 GARD:19035 icd11.foundation:1695340384 UMLS:C0036472" "An indirect measurement of the average concentration of hemoglobin per reticulocyte in a biological specimen, calculated as the ratio of hemoglobin to hematocrit. [ NCI ]" "NCIt:C138970" "Quantification of the amount of X-12717 in a sample." "PMID:24816252" "GARD:4680 SCTID:715240000 UMLS:C4275241 OMIM:312550 Orphanet:1852 MEDGEN:909011" @@ -2714,7 +2700,7 @@ "DOID:0111232 UMLS:C4225291 OMIM:616538 GARD:16134 MEDGEN:902513" "22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." "NANDO:2200712 DECIPHER:16 GARD:10299 icd11.foundation:1868156761 NANDO:1200339 Orphanet:567 MedDRA:10012979 NANDO:1200688 MedDRA:10066430" - "A dibenzoazepine that is 5H-dibenzo[b,f]azepine carrying a carbamoyl substituent at the azepine nitrogen, used as an anticonvulsant." "PMID:10411478 Reaxys:1246090 PMID:16538175 Patent:US2011177136 PMID:11240598 PMID:18163657 PMID:17873967 PMID:18415623 PMID:14581052 PMID:11891095 KEGG:C06868 Patent:US2011245283 PMID:12957643 PMID:7602118 PMID:19473818 PMID:16562645 PMID:12799799 KEGG:D00252 PMID:15557493 PMID:11129121 PMID:14572037 PMID:11888243 PMID:19741433 Patent:US2004220187 PMID:19921623 PMID:15683742 PMID:17582711 Beilstein:1246090 PMID:16245817 PMID:17027750 HMDB:HMDB0014704 PMID:17028629 NCIt:C341 PMID:14160216 PMID:17949959 PMID:15665743 PMID:12228880 PMID:18652684 PMID:14713026 Drug_Central:489 PMID:18656520 PMID:16033627 Patent:US2007167446 LINCS:LSM-3610 PMID:22322005 CAS:298-46-4 PMID:16394456 PMID:18969759 DrugBank:DB00564 PMID:11475584 PMID:11071486 SNOMEDCT:387222003 PMID:16616830 PMID:11595204 PMID:12073283 PMID:16380297 MeSH:D002220 PMID:16990009 PMID:12475188 PMID:19135617 PMID:27967303 PMID:15850602 PMID:15165631 PMID:14723323 Wikipedia:Carbamazepine PMID:15739418 SNOMEDCT:40820003 PMID:17207414 PMID:15820347 PMID:12749779 PMID:16150575 Patent:US2948718 PMID:18637155 PMID:16437428" + "A dibenzoazepine that is 5H-dibenzo[b,f]azepine carrying a carbamoyl substituent at the azepine nitrogen, used as an anticonvulsant." "PMID:10411478 Reaxys:1246090 PMID:16538175 Patent:US2011177136 PMID:11240598 PMID:18163657 PMID:17873967 PMID:18415623 PMID:14581052 PMID:11891095 KEGG:C06868 Patent:US2011245283 PMID:12957643 PMID:7602118 PMID:19473818 PMID:16562645 PMID:12799799 KEGG:D00252 PMID:15557493 PMID:11129121 PMID:14572037 PMID:11888243 PMID:19741433 Patent:US2004220187 PMID:19921623 PMID:15683742 PMID:17582711 PMID:16245817 PMID:17027750 HMDB:HMDB0014704 PMID:17028629 NCIt:C341 PMID:14160216 PMID:17949959 PMID:15665743 PMID:12228880 PMID:18652684 PMID:14713026 Drug_Central:489 PMID:18656520 PMID:16033627 Patent:US2007167446 LINCS:LSM-3610 PMID:22322005 CAS:298-46-4 PMID:16394456 PMID:18969759 DrugBank:DB00564 PMID:11475584 PMID:11071486 SNOMEDCT:387222003 PMID:16616830 PMID:11595204 PMID:12073283 PMID:16380297 MeSH:D002220 PMID:16990009 PMID:12475188 PMID:19135617 PMID:27967303 PMID:15850602 PMID:15165631 PMID:14723323 Wikipedia:Carbamazepine PMID:15739418 SNOMEDCT:40820003 PMID:17207414 PMID:15820347 PMID:12749779 PMID:16150575 Patent:US2948718 PMID:18637155 PMID:16437428" "The amount of a neurocan core protein when measured in blood." "PMID:37794183" "Genome-wide mapping of PTB-RNA interactions (PTB-Seq)" "PMID:20064465" @@ -2797,10 +2783,9 @@ "Crossed polysyndactyly is a rare, genetic, congenital limb malformation disorder characterized by unilateral or bilateral postaxial polydactyly in the hands and preaxial polydactyly in the feet, associated with bilateral cutaneous syndactyly of first, second and third toes. Cutaneous syndactyly in hands has also been reported in some patients. There have been no further descriptions in the literature since 1994." "OMIM:175690 icd11.foundation:1884305247 GARD:1617 MESH:C566773 UMLS:C1867999 MEDGEN:358112 Orphanet:2935" "Orphanet:79154 MEDGEN:395350 DOID:0111453 OMIM:204750 GARD:16708 OMIM:245130 UMLS:C1859817 MESH:C565453" "Noninherited ichthyosis associated with malignancy; autoimmune, inflammatory, nutritional, metabolic, infectious, and neurologic diseases; or medications." "SCTID:8691004 icd11.foundation:1504032289 ICD10CM:L85.0 Orphanet:454 UMLS:C0263386 MEDGEN:78092 MESH:C538175 NCIT:C112831 GARD:476" - "The monophosphate ester obtained by condensation of phosphoric acid with the primary hydroxy group of pyridoxal." "PMID:14651974 PMID:7284379 Wikipedia:Pyridoxal_phosphate KNApSAcK:C00007503 PMID:6339724 Gmelin:465416 Reaxys:234749 CAS:54-47-7 COMe:MOL000108 HMDB:HMDB0001491 PMID:16277678 PDBeChem:PLP Drug_Central:3506 PMID:18491919 Beilstein:234749 PMID:9866693 KEGG:C00018 DrugBank:DB00114" + "The monophosphate ester obtained by condensation of phosphoric acid with the primary hydroxy group of pyridoxal." "PMID:14651974 PMID:7284379 Wikipedia:Pyridoxal_phosphate KNApSAcK:C00007503 PMID:6339724 Gmelin:465416 Reaxys:234749 CAS:54-47-7 COMe:MOL000108 HMDB:HMDB0001491 PMID:16277678 PDBeChem:PLP Drug_Central:3506 PMID:18491919 PMID:9866693 KEGG:C00018 DrugBank:DB00114" "MEDGEN:1841226 UMLS:C5830590 OMIM:620425" "Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization." "MeSH:D002128 UMLS:C0006705 SCTID:71638002 MONDO:0005557 MEDGEN:714 ICD9:275.4 MESH:D002128 ICD9:275.49 SNOMEDCT:71638002 ICD9CM:275.40 DOID:10575 ICD9CM:275.4 SNOMEDCT:190863003 SNOMEDCT:267442002 SNOMEDCT:190874007 ICD9:275.40" - "Inflammation of the SYNOVIAL MEMBRANE [ MeSH ]" "MESH:D013585 MeSH:D013585 NCIT:C50766 MONDO:0002400 NCIt:C50766 UMLS:C0039103 DOID:2703 HP:0100769 MEDGEN:21051 MedDRA:10042868 SCTID:416209007" "An adenocarcinoma arising from Barrett metaplastic epithelium in the esophagus. There is evidence supporting the idea that the Barrett adenocarcinomas develop through a stepwise progression through intestinal metaplastic epithelium to epithelial dysplasia to malignancy. Adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. In terms of grading, they are well or moderately differentiated adenocarcinomas. -- 2002" "SCTID:721617001 EFO:1001939 MONDO:0004405 DOID:7941 MEDGEN:272350 NCIT:C7027 UMLS:C1332460 icd11.foundation:1934528268" "COG7-CDG is a congenital disorder of glycosylation characterized by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex." "Orphanet:79333 DOID:0070257 MESH:C535754 OMIM:608779 MEDGEN:419311 GARD:9842 SCTID:717773005 UMLS:C2931010" @@ -2844,7 +2829,7 @@ "An abscess that develops in the space surrounding one or both palatine tonsils." "ICD10CM:J36 SCTID:15033003 UMLS:C0031157 icd11.foundation:1782446047 MedDRA:10034686 ICD9:475 MONDO:0005906 DOID:12765 MeSH:D000039 MESH:D000039 MEDGEN:45819 ICD10:J36 NCIT:C128322" "A disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length." "MONDO:0013878 MEDGEN:766531 OMIM:614742 UMLS:C3553617" "quantification of the surface area of the visual cortex. The visual cortex is located in the occipital lobe at the back of the brain. It is variable and heritable, and is correlated with visual acuity and visual perception." "PMID:22343285" - "A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage." "MEDGEN:83414 NCIT:C8106 EFO:1000414 MONDO:0003481 ONCOTREE:ODYS DOID:5511 SCTID:254874008 icd11.foundation:208782658 UMLS:C0346185" + "A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage." "UMLS:C0346185 MEDGEN:83414 NCIT:C8106 EFO:1000414 MONDO:0003481 ONCOTREE:ODYS DOID:5511 SCTID:254874008 icd11.foundation:208782658" "Quantification of triglycerides in very large HDL." "An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation." "DOID:0111240 MEDGEN:461761 GARD:15624 UMLS:C3150411 NCIT:C126742 OMIM:613150" "Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities." "SCTID:719395001 MEDGEN:414129 OMIM:612946 GARD:17116 UMLS:C2751878 MESH:C567850 Orphanet:217026" @@ -2859,7 +2844,6 @@ "SNOMEDCT:243235006 NCIt:C86498" "The amount of a tripartite motif-containing protein 5 when measured in blood." "PMID:37794183" "The amount of a visinin-like protein 1 when measured in blood serum." - "a skin rash. It is benign but may inflict substantial discomfort in certain cases.Classically, it begins with a single \"herald patch\" lesion, followed in 1 or 2 weeks by a generalized body rash lasting up to 12 weeks, however usually around 6 - 8." "Wikipedia:Pityriasis_rosea NCIT:C26855 ICD10CM:L42 MedDRA:10035114 ICD10:L42 MONDO:0006601 MEDGEN:18492 icd11.foundation:919892859 SCTID:77252004 UMLS:C0032026 DOID:8892 ICD9:696.3 MESH:D017515" "OBSOLETE. A group of rare skeletal muscle ion-channel disorders caused by genetic mutations in the sodium and chloride channel genes. It is characterized by altered membrane excitability resulting in skeletal muscle stiffness. This group of myotonias is distinct from myotonic dystrophy because of the absence of systemic features or progressive weakness." "SCTID:424795008 NCIT:C122787 Orphanet:206656 NANDO:1200496" "CS57785 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158809&type=germplasm" "OMIM:619420 MEDGEN:1779703 UMLS:C5543626" @@ -2884,7 +2868,6 @@ "CRISPR droplet sequencing (CROP-seq)" "PMID:28099430" "Quantification of the ratio of 3-Indolepropionic acid to 2-(dimethylamino) guanosine ratio in a sample." "PMID:33634981" "Disorders stemming from the misuse and abuse of alcohol." "MESH:D020751 MEDGEN:65935 SCTID:719848005 UMLS:C0236970" - "A sleep disorder that involves abnormal behavior including the acting out of violent or dramatic dreams during the sleep phase with rapid eye movement." "ICD10CM:G47.52 DOID:9091 ICD9:327.42 MESH:D020187 MEDGEN:199730 UMLS:C0751772 MONDO:0005937 ICD9:780.59 SCTID:415238003 MeSH:D020187 MedDRA:10078725" "The amount of a armadillo repeat-containing protein 8 when measured in blood serum." "A dilation of the duodenal papilla that is the opening of the juncture of the common bile duct and the main pancreatic duct." "MESH:D014670 FMA:15076 CALOHA:TS-2348 GAID:283 SCTID:362200007 galen:AmpullaOfVater NCIT:C13011 Wikipedia:Ampulla_of_Vater TAO:0005167 ZFA:0005167 UMLS:C0042425" "A viral infectious disease that results_in infection, has_material_basis_in Colorado tick fever virus, which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever for 2-3 days, followed by an afebrile period of similar duration and then another 2-3 days of fever, has_symptom headache, has_symptom myalgia, and has_symptom fatigue." "ICD10CM:A93.2 MeSH:D003121 SCTID:6452009 MESH:D003121 DOID:4885 MedDRA:10010022 MedDRA:100MedDRA:10022 Orphanet:83595 ICD9:066.1 NORD:989 UMLS:C0009400 MEDGEN:40398 MONDO:0005708 GARD:19042 icd11.foundation:951357413" @@ -2912,14 +2895,13 @@ "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an oxygen stimulus." "A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG." "UMLS:C0023211 SNOMEDCT_US:63467002" "A broad classification for humoral immunodeficiencies. These disorders may be caused by inadequate activation of progenitor B cells, defective class-switching or the effects of medications. Despite the potential for increased susceptibility to infection, these disorders are self-limited with eventual normalization of serum antibody levels." "MEDGEN:167815 UMLS:C0859960 NCIT:C27319 DOID:625" - "A 3-oxo Delta(4)-steroid that is estr-4-en-3-one substituted by a beta-hydroxy group at position 17." "KEGG:C07254 CAS:434-22-0 Wikipedia:Nandrolone Beilstein:4690380 PMID:11888015 NCIt:C29279 SNOMEDCT:126171003 KEGG:D08250 Drug_Central:1879 Gmelin:1228044 MeSH:D009277 Beilstein:2055849 Reaxys:2055849 HMDB:HMDB0002725 PMID:19055689 DrugBank:DB00984 VSDB:1861 PMID:24405322 PMID:20020363" + "A 3-oxo Delta(4)-steroid that is estr-4-en-3-one substituted by a beta-hydroxy group at position 17." "KEGG:C07254 CAS:434-22-0 Wikipedia:Nandrolone Beilstein:4690380 PMID:11888015 NCIt:C29279 SNOMEDCT:126171003 KEGG:D08250 Drug_Central:1879 Gmelin:1228044 MeSH:D009277 Reaxys:2055849 HMDB:HMDB0002725 PMID:19055689 DrugBank:DB00984 VSDB:1861 PMID:24405322 PMID:20020363" "Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria." "MESH:D017074 icd11.foundation:1908371517 MedDRA:10021449 NCIT:C26725 GARD:6140 NANDO:1200344 Orphanet:1572 SCTID:23238000 MEDGEN:40407 ICD9:279.06 OMIMPS:607594 UMLS:C0009447 NORD:990 NANDO:2200717 DOID:12177" "Quantification of signal-regulatory protein beta-2 in a sample." "PMID:29875488" "Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps." "Orphanet:602 NANDO:1200218 DOID:0080718 NORD:2011 MEDGEN:381298 GARD:9493 UMLS:C1853926 OMIM:605820 SCTID:702382000" "Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate." "GARD:16674 Orphanet:66637 OMIM:608022 icd11.foundation:508093071 MEDGEN:374993 MESH:C564305 SCTID:721094006 UMLS:C1842691" "quantification of the amount of stem Cell Growth Factor beta in a sample" "ICD10:H35.5 OMIM:500004 UMLS:C1568248 OMIM:276902 OMIM:614504" - "A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue." "NORD:877 ICD9:023.9 SCTID:75702008 DOID:11077 ICD9:023 ICD10CM:A23 MedDRA:10006500 MeSH:D002006 icd11.foundation:730510331 Orphanet:1304 MONDO:0005683 MEDGEN:674 NCIT:C84602 UMLS:C0006309 MESH:D002006 MedDRA:10006501 GARD:5966" "A disorder of the skin, the oral mucosa, and the gingiva, that usually presents as a solitary polypoid capillary hemangioma often resulting from trauma. It is manifested as an inflammatory response with similar characteristics to those of a granuloma." "UMLS:C0085653 MEDGEN:39085 SCTID:200722003 MESH:D017789" "The amount of a eukaryotic-type lysine--tRNA ligase when measured in blood serum." @@ -2998,7 +2980,7 @@ "Bilateral clubfoot deformity." "UMLS:C1837835" "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of taxane, an antineoplastic agent." - "A hyperplasia that involves the parathyroid gland." "HP:0008208 UMLS:C0271844 NCIT:C3989 NCIt:C3989 MONDO:0006354 MEDGEN:75767 SCTID:9092004 MedDRA:10079611" + "A hyperplasia that involves the parathyroid gland." "HP:0008208 UMLS:C0271844 NCIT:C3989 NCIt:C3989 MEDGEN:75767 MONDO:0006354 SCTID:9092004 MedDRA:10079611" "Imaginal disc that, in the adults, gives rise to the eye, antenna, head capsule (including all bristles and external membranes) and the maxillary palps (Cohen, 1993)." "UBERON:6001766" "A myofibroblastoma arising from the inguinal lymph nodes. It is characterized by the presence of nuclear palisading." "MEDGEN:757257 UMLS:C3164851 NCIT:C6584 DOID:8304" "UMLS:C1864975" @@ -3093,7 +3075,7 @@ "A neuroendocrine tumor arising from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss." "NCIt:C95595" "Fibular dimelia-diplopodia syndrome is a rare developmental anomaly." "SCTID:720953006 GARD:18746 UMLS:C4303758 Orphanet:1757 MEDGEN:929427" - "a study design in which the accuracy or the quality of the result of an assay is checked by comparing with real time PCR results" + "a study design in which the accuracy or the quality of the result of an assay is checked by comparing with real time PCR results"@en "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" "Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects." "MESH:C536388 UMLS:C0795936 SCTID:723333000 Orphanet:1973 OMIM:227280 GARD:2230 MEDGEN:208649" "A squamous cell carcinoma that involves the lip." "NCIT:C4042 Orphanet:502366 UMLS:C0280302 SCTID:255071008 GARD:17933 icd11.foundation:1635251327 MEDGEN:79099" @@ -3108,12 +3090,12 @@ "A selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin A (IgA), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract." "DOID:11701 Orphanet:69127 MeSH:D017098 UMLS:C4049006 MESH:D017098 SCTID:29260007 NANDO:1200347 NCIT:C26964 NANDO:2200720 MONDO:0001341 MEDGEN:883982 DOID:0060025 Wikipedia:Selective_immunoglobulin_A_deficiency" "The amount of a phosphatidylcholine 16:0_16:0 when measured in blood serum." - "is a process which results in the creation of a library from fragments of DNA using cloning vectors or oligonucleotides with the role of adaptors." + "is a process which results in the creation of a library from fragments of DNA using cloning vectors or oligonucleotides with the role of adaptors."@en "A syndrome associated with inflammation of the BRACHIAL PLEXUS. Clinical features include severe pain in the shoulder region which may be accompanied by MUSCLE WEAKNESS and loss of sensation in the upper extremity. This condition may be associated with VIRUS DISEASES; IMMUNIZATION; SURGERY; heroin use (see HEROIN DEPENDENCE); and other conditions. The term brachial neuralgia generally refers to pain associated with brachial plexus injury. (From Adams et al., Principles of Neurology, 6th ed, pp1355-6)" "MONDO:0006682 ICD9:723.4 SCTID:26609002 NCIt:C84600 NCIT:C84600 MEDGEN:113170 MeSH:D020968 MESH:D020968 MedDRA:10073002 SCTID:72893007 DOID:3689 UMLS:C0221759" "OMIM:128980" "ATM-/- fibroblast cell line GM09607" "CLO:0026603" "An acyl chloride obtained by substitution of both hydrogens of formaldehyde by chlorine." "PMID:21222562 PMID:21293301 PMID:21031186 PMID:21309662 CAS:75-44-5 Reaxys:1098367" - "An O-acylcarnitine compound having propanoyl as the acyl substituent." "Beilstein:4137829 Reaxys:4137829 HMDB:HMDB0000824 PMID:22770225 KEGG:C03017" + "An O-acylcarnitine compound having propanoyl as the acyl substituent." "Reaxys:4137829 HMDB:HMDB0000824 PMID:22770225 KEGG:C03017" "Quantification of the volume of the pars triangularis." "PMID:31530798" "Nervous structures including ganglia outside of the central nervous system." "FMA:9906 EV:0100374 ZFA:0000142 XAO:0000211 EMAPA:16985 MA:0000225 TAO:0001576 BTO:0001832 MAT:0000100 EHDAA:3769" @@ -3138,7 +3120,7 @@ "An anomaly of the rhythm or depth of breathing." "UMLS:C1837388" "SNOMEDCT:14982007" "The bladder-like rectum is bounded by a layer of circular muscle fibres and by sparser longitudinal fibres." "BTO:0001158 TGMA:0001028 TADS:0000166 EHDAA:5836 EV:0100081 XAO:0000238 FMA:14544 MAT:0000050 SAEL:88 EMAPA:17896 WBbt:0005773 FBbt:00005756 MA:0000336" - "A monocarboxylic acid that is propionic acid in which one of the hydrogens at position 2 is substituted by a 4-(2-methylpropyl)phenyl group." "PMID:25915907 PMID:29756342 PMID:18697608 Wikipedia:Ibuprofen Patent:US3385886 PMID:12723739 KEGG:D00126 PMID:21368281 Patent:GB971700 Drug_Central:1407 CAS:15687-27-1 HMDB:HMDB0001925 LINCS:LSM-1354 Patent:US3228831 PMID:16176022 PMID:15506544 PMID:25521617 Reaxys:2049713 PMID:24168233 Beilstein:2049713 Patent:US5215755 DrugBank:DB01050 PMID:18335846 PMID:11433218 PMID:14562167 PMID:25708941 Patent:US6727286 KEGG:C01588" + "A monocarboxylic acid that is propionic acid in which one of the hydrogens at position 2 is substituted by a 4-(2-methylpropyl)phenyl group." "PMID:25915907 PMID:29756342 PMID:18697608 Wikipedia:Ibuprofen Patent:US3385886 PMID:12723739 KEGG:D00126 PMID:21368281 Patent:GB971700 Drug_Central:1407 CAS:15687-27-1 HMDB:HMDB0001925 LINCS:LSM-1354 Patent:US3228831 PMID:16176022 PMID:15506544 PMID:25521617 Reaxys:2049713 PMID:24168233 Patent:US5215755 DrugBank:DB01050 PMID:18335846 PMID:11433218 PMID:14562167 PMID:25708941 Patent:US6727286 KEGG:C01588" "The amount of a cytokine receptor-like factor 1 when measured in blood serum." "The determination of the amount of very long-chain saturated fatty acids present in a sample. VLSFAs are fatty acids with 20 or more carbons." @@ -3196,7 +3178,6 @@ "The amount of a semaphorin-6C when measured in blood serum." "MEDGEN:1841010 UMLS:C5830374 OMIM:620300" - "A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy) (MeSH)." "MESH:D004827 MONDO:0005027 ICD10WHO:G40 UMLS:C0014544 ICD9:345.80 ICD9:345.8 DOID:1826 ICD10:G40 MedDRA:10015048 SCTID:84757009 MedDRA:10015052 NIFSTD:birnlex_12718 NCIt:C3020 ICD9:345 ICD9:345.9 MedDRA:10015037 MedDRA:10015046 SNOMEDCT:84757009 NCIT:C3020 MeSH:D004827 ICD10CM:G40 ICD9:345.91 ICD9:345.90 MedDRA:10015047 MEDGEN:4506" "Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds." "ICD10:D69.1 OMIM:601709 UMLS:C1866423 MeSH:C536260" "A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis." "MedDRA:10033768 ICD10CM:B41 DOID:12662 MedDRA:10061906 Orphanet:73260 icd11.foundation:268777657 SCTID:36866003 ICD9:116.1 GARD:7323 MEDGEN:14601 UMLS:C0030409 MONDO:0005894 MeSH:D010229 MESH:D010229 NCIT:C34891 NORD:1553" "A recessive X-linked defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation." "MeSH:D006105 SNOMEDCT:387759001 DOID:3265 NCIt:C26788 SNOMEDCT:191352003" @@ -3306,7 +3287,6 @@ "The amount of a a disintegrin and metalloproteinase with thrombospondin motifs 16 when measured in blood." "PMID:37794183" "The determination of the amount of trans fatty acids with 16 carbons and 1 double bond at the seventh N-terminal carbon present in a sample." "Quantification of the amount of X-12221 in a sample." "PMID:35347128" - "Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." "MeSH:D001523 DOID:2468 ICD10:F99 NIFSTD:birnlex_12669 NCIT:C2893 ICD9:290-299.99 SCTID:74732009 SNOMEDCT:5464005 MedDRA:10004204 UMLS:C0004936 ICD9:298.8 ICD9:V11.9 SNOMEDCT:74732009 MESH:D001523 NCIt:C2893 MedDRA:10013190 MeSH:D011618 DOID:150 MONDO:0005084 MedDRA:10061284 MEDGEN:14047 SNOMEDCT:69322001" "C3H/HeJ is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/000659.html" "JAX:000659" "An infiltrating transitional cell carcinoma that arises from the renal pelvis and exhibits sarcomatoid features." "NCIT:C6186 DOID:6844 MEDGEN:233403 UMLS:C1335752" "MeSH:D012475 NCIt:C76380 SNOMEDCT:27268008" @@ -3373,7 +3353,7 @@ "OMIM:613679 ICD10:D68.2" "Any azoospermia in which the cause of the disease is a mutation in the SEPT12 gene." "MEDGEN:766707 DOID:0070178 OMIM:614822 UMLS:C3553793 GARD:18401" "UMLS:C5680835 Orphanet:209196 MEDGEN:1842345 GARD:20437" - "A 5-[2-(dimethylamino)ethyl]-2-(4-methoxyphenyl)-4-oxo-2,3,4,5-tetrahydro-1,5-benzothiazepin-3-yl acetate in which both stereocentres have S configuration. A calcium-channel blocker and vasodilator, it is used as the hydrochloride in the management of angina pectoris and hypertension." "KEGG:C06958 CAS:42399-41-7 VSDB:1863 Beilstein:3573079 PMID:19167257 Patent:US3562257 KEGG:D07845 PMID:16651034 PMID:11937779 PMID:25122162 Patent:DE3415035 Reaxys:3573079 HMDB:HMDB0014487 PMID:24261918 PMID:23687551 Wikipedia:Diltiazem LINCS:LSM-2523 Patent:DE1805714 Drug_Central:897 Patent:US4552695 PMID:8369596 DrugBank:DB00343" + "A 5-[2-(dimethylamino)ethyl]-2-(4-methoxyphenyl)-4-oxo-2,3,4,5-tetrahydro-1,5-benzothiazepin-3-yl acetate in which both stereocentres have S configuration. A calcium-channel blocker and vasodilator, it is used as the hydrochloride in the management of angina pectoris and hypertension." "KEGG:C06958 CAS:42399-41-7 VSDB:1863 PMID:19167257 Patent:US3562257 KEGG:D07845 PMID:16651034 PMID:11937779 PMID:25122162 Patent:DE3415035 Reaxys:3573079 HMDB:HMDB0014487 PMID:24261918 PMID:23687551 Wikipedia:Diltiazem LINCS:LSM-2523 Patent:DE1805714 Drug_Central:897 Patent:US4552695 PMID:8369596 DrugBank:DB00343" "Quantification of the ratio of 5-Methyluridine to 3-Indolepropionic acid ratio in a sample." "PMID:33634981" "Orphanet:271853" "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the breast." "MEDGEN:231970 UMLS:C1332637 DOID:4060 NCIT:C5190" @@ -3443,7 +3423,6 @@ "A Weill-Marchesani syndrome characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome." "OMIM:608328 UMLS:C1869115 SCTID:722450007 Orphanet:2084 MEDGEN:358388 GARD:2452" "MEDGEN:82800 ICD9:277.39 GARD:17741 icd11.foundation:503091580 SCTID:45639009 ICD10EXP:E85.4+ UMLS:C0268393 Orphanet:439254 ICD10EXP:I68.0*" - "A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus. [ NCIt:C26809 ]" "ICD9:375.89 MEDGEN:5994 MONDO:0001854 UMLS:C0022904 ICD9:375 ICD10:H04 ICD9:375.69 NCIT:C26809 SCTID:31053003 MESH:D007766 ICD9:375.9 DOID:1400" "Quantification of the amount of X-11818 in a sample." "PMID:24816252" "An overwhelming, irrational, and persistent fear of animals." "UMLS:C0233711 DOID:600 NCIT:C35273 MONDO:0003727 NCIt:C35273 MEDGEN:65440 MedDRA:10002518" @@ -3487,7 +3466,6 @@ "A layer of the ovarian follicle that consists of theca cells." "SCTID:361385000 Wikipedia:Theca_of_follicle MA:0001712 EFO:0003629 EMAPA:35636 ZFA:0001113 TAO:0001113 BTO:0002853 FMA:18656" "Quantification of the amount of 1-palmitoyl-2-palmitoleoyl-GPC (16:0/16:1) in a sample." "PMID:35050183" "MeSH:D048191 SNOMEDCT:14332009" - "An cation channel that opens in response to binding by extracellular glutmate, but only if glycine is also bound and the membrane is depolarized. Voltage gating is indirect, due to ejection of bound magnesium from the pore at permissive voltages." "Wikipedia:NMDA_receptor" "DOID:0080716 GARD:17820 UMLS:C5681094 Orphanet:464724 OMIMPS:615438 MEDGEN:1813021" "This is an adherent cell line derived from a hepatic rhabdoid tumor. Hepatic rhabdoid tumors are extremely rare. This cell line has a large deletion on 22q, which indicates numerous genes in addition to SNF5 are deleted." "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" @@ -3655,7 +3633,7 @@ "A disease involving the heart and/or pericardium." "SCTID:56265001 ICD10:I51 MedDRA:10019276 UMLS:C0018799 MONDO:0005267 DOID:114 MESH:D006331 MEDGEN:5458 NCIT:C3079 ICD10:I24 SNOMEDCT:56265001 ICD9:V47.2 ICD9:429.89 MeSH:D006331 ICD9:429.9" "The paired air-filled cavities surrounded by the bones of the face that are lined by mucous membranes and are continuous with the nasal cavity." "MESH:D010256 MA:0000431 Wikipedia:Paranasal_sinuses NCIT:C12763 GAID:355 UMLS:C0030471 FMA:59679 SCTID:181203001 CALOHA:TS-2082 EV:0100038 EHDAA:6489 EMAPA:35662" - "A 3-oxo monocarboxylic acid anion that is the conjugate base of acetoacetic acid, arising from deprotonation of the carboxy group." "Reaxys:4128534 UM-BBD_compID:c0069 Beilstein:4128534 CAS:141-81-1 NCIt:C70618 KEGG:C00164 MetaCyc:3-KETOBUTYRATE SNOMEDCT:115377001 MeSH:D003181" + "A 3-oxo monocarboxylic acid anion that is the conjugate base of acetoacetic acid, arising from deprotonation of the carboxy group." "Reaxys:4128534 UM-BBD_compID:c0069 CAS:141-81-1 NCIt:C70618 KEGG:C00164 MetaCyc:3-KETOBUTYRATE SNOMEDCT:115377001 MeSH:D003181" "The amount of a occludin when measured in blood serum." "Discontinuation of the habit of smoking, the inhaling and exhaling of tobacco smoke." "NCIt:C17427 MeSH:D016540" "CLO:0009015 RRID:CVCL_0019 BTO:0000793" @@ -3676,7 +3654,7 @@ "The amount of a N-myristoylsphingosine-1-phosphocholine when measured in blood." "PMID:37253714" "The amount of a keratin, type II cytoskeletal 1 when measured in blood serum." "A member of the class of phosphocholines that is the choline ester of sn-glycero-3-phosphate. It is one of the major osmolyte in the renal medullary cells." "PMID:6420466 MetaCyc:L-1-GLYCERO-PHOSPHORYLCHOLINE Wikipedia:Alpha-GPC PMID:22677751 CAS:28319-77-9 Reaxys:3908444 PMID:23268258 PMID:21195433 PMID:22959283 PDBeChem:CH5 PMID:23314552 PMID:24166560 PMID:23244432 HMDB:HMDB0000086 PMID:22191561 PMID:23528493 PMID:21165396 KEGG:C00670 PMID:22679745 Drug_Central:627 PMID:24156263 PMID:23013274 Beilstein:6062450 KEGG:D07349 DrugBank:DB04660 PMID:23387341" - "An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life. [url:http://www.forensicpsychiatry.ca/impulse/gambling.htm ]" "NCIt:C94335 MedDRA:10034158 OMIM:606349 SCTID:18085000 ICD9:312.31 MEDGEN:14632 MONDO:0011662 MeSH:D005715 ICD10CM:F63.0 UMLS:C0030662 MESH:D005715 NCIT:C94335 DOID:12399 ICD9CM:312.31" + "An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life. [url:http://www.forensicpsychiatry.ca/impulse/gambling.htm ]" "NCIt:C94335 MedDRA:10034158 OMIM:606349 SCTID:18085000 ICD9:312.31 MEDGEN:14632 MONDO:0011662 UMLS:C0030662 MeSH:D005715 ICD10CM:F63.0 MESH:D005715 NCIT:C94335 DOID:12399 ICD9CM:312.31" "The amount of a cytosolic phospholipase A2 when measured in blood serum." @@ -3767,6 +3745,7 @@ "The amount of a treacle protein when measured in blood." "PMID:37794183" "Quantification of metenamine in blood plasma." "HMDB:0029598" "Quantification of the amount of N1-methyladenosine in a sample." "PMID:24816252" + "A cellular process consisting of the biochemical pathways by which a living organism transforms chemical substances. This includes including anabolism (biosynthetic process) and catabolism (catabolic process). Metabolic processes includes the transformation of small molecules, as well macromolecular processes such as DNA repair and replication, protein synthesis and degradation." "MeSH:Q000378 Wikipedia:Metabolism NCIt:C19536 GO:0008152 MeSH:D008660" "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX5 gene." "Mild to severe infections of the eye and its adjacent structures (adnexa) by adult or larval protozoan or metazoan parasites." "SCTID:312418006 MEDGEN:8752 ICD9:136.9 UMLS:C0015406 MESH:D015822" "Quantification of the amount of 1-(1-enyl-palmitoyl)-2-myristoyl-GPC (P-16:0/14:0) in a sample." "PMID:35347128" @@ -3774,7 +3753,7 @@ "A benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic adenomas of the thyroid gland, parathyroid gland, and pituitary gland." "ICDO:8290/0 MedDRA:10048757 DOID:5389 MONDO:0003424 NCIT:C3759 MEDGEN:307150 SNOMEDCT:89439007 MeSH:D018249 UMLS:C1510502" "Quantification of the volume of the dentate gyrus." "Wikipedia:Dentate_gyrus PMID:31155012" - "A chlorophenoxyacetic acid that is phenoxyacetic acid in which the ring hydrogens at postions 2 and 4 are substituted by chlorines." "PMID:15198722 LINCS:LSM-19988 PMID:11165716 CAS:94-75-7 MeSH:D015084 Gmelin:51306 HMDB:HMDB0041797 PMID:12231832 Pesticides:2,4-d PPDB:4 PMID:11423340 PMID:18969687 MeSH:C056848 Reaxys:1214242 NCIt:C26311 PMID:6362003 KEGG:C03664 SNOMEDCT:18344000 PMID:11566291 PMID:10794133 PMID:16785163 Wikipedia:2,4-Dichlorophenoxyacetic_acid PDBeChem:CFA PMID:17568655 MetaCyc:CPD-9009 Beilstein:1214242" + "A chlorophenoxyacetic acid that is phenoxyacetic acid in which the ring hydrogens at postions 2 and 4 are substituted by chlorines." "PMID:15198722 LINCS:LSM-19988 PMID:11165716 CAS:94-75-7 MeSH:D015084 Gmelin:51306 HMDB:HMDB0041797 PMID:12231832 Pesticides:2,4-d PPDB:4 PMID:11423340 PMID:18969687 MeSH:C056848 Reaxys:1214242 NCIt:C26311 PMID:6362003 KEGG:C03664 SNOMEDCT:18344000 PMID:11566291 PMID:10794133 PMID:16785163 Wikipedia:2,4-Dichlorophenoxyacetic_acid PDBeChem:CFA PMID:17568655 MetaCyc:CPD-9009" "An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23." "OMIM:616546 UMLS:C4225286 MEDGEN:901479 GARD:18467 DOID:0110096" @@ -3792,7 +3771,7 @@ "A maximal portion of nutritive plant tissue in a seed." - "A trinitrotoluene having the nitro groups at positions 2, 4 and 6." "PMID:20219247 KEGG:C16391 DrugBank:DB01676 PDBeChem:TNL Reaxys:1887900 PMID:19427119 PMID:28845964 Wikipedia:Trinitrotoluene Beilstein:1887900 CAS:118-96-7" + "A trinitrotoluene having the nitro groups at positions 2, 4 and 6." "PMID:20219247 KEGG:C16391 DrugBank:DB01676 PDBeChem:TNL Reaxys:1887900 PMID:19427119 PMID:28845964 Wikipedia:Trinitrotoluene CAS:118-96-7" "Human acute lymphoblastic leukemia cell line" "RRID:CVCL_GX97" "Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities." "MEDGEN:1646607 SCTID:764627005 Orphanet:100071 UMLS:C4707012 GARD:5342" "ICD10:E72.3" @@ -3848,7 +3827,7 @@ "A fully differentiated eosinophil, a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin. Cells are also differentiated from other granulocytes by a small nuclear-to-cytoplasm ratio (1:3). This cell type is CD49d-positive." "The parasympathetic nervous system is one of the two divisions of the vertebrate autonomic nervous system. Parasympathetic nerves emerge cranially as pre ganglionic fibers from oculomotor, facial, glossopharyngeal and vagus and from the sacral region of the spinal cord. Most neurons are cholinergic and responses are mediated by muscarinic receptors. The parasympathetic system innervates, for example: salivary glands, thoracic and abdominal viscera, bladder and genitalia[GO]." "MAT:0000101 BIRNLEX:2517 TAO:0001575 EHDAA:4655 MESH:D010275 UMLS:C1305770 ZFA:0001575 AAO:0010488 BTO:0001833 EMAPA:17270 SCTID:362496006 CALOHA:TS-2094 GAID:708 Wikipedia:Parasympathetic_nervous_system MA:0000223 EFO:0000894 FMA:9907 NCIT:C12764 MIAA:0000101 EHDAA2:0001402 VHOG:0000755 UMLS:C0030510 EHDA:10096" - "A hydroxy fatty acid anion that is the conjugate base of 3-hydroxybutyric acid, obtained by deprotonation of the carboxy group; major species at pH 7.3." "Reaxys:4127635 Beilstein:4127635" + "A hydroxy fatty acid anion that is the conjugate base of 3-hydroxybutyric acid, obtained by deprotonation of the carboxy group; major species at pH 7.3." "Reaxys:4127635" "Quantification of hyodeoxycholate levels in a sample." "PMID:23823483" "A glomerular disease characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improve in the first weeks of life." "GARD:18896 SCTID:725592009 UMLS:C4511239 Orphanet:69063 MEDGEN:1384031" @@ -3865,7 +3844,7 @@ "An organic anion obtained by deprotonation of 1,3,7-trimethyluric acid." "Quantification of protein GPR107 in a sample." "PMID:29875488" - "An octadec-9-enoic acid in which the double bond at C-9 has Z (cis) stereochemistry." "DrugBank:DB04224 Gmelin:109551 SNOMEDCT:427281002 PMID:5332408 PMID:25584012 MeSH:D019301 Reaxys:1726542 PMID:23844805 CAS:112-80-1 KEGG:C00712 Wikipedia:Oleic_acid PMID:25794012 HMDB:HMDB0000207 Beilstein:1726542 PMID:19761868 KEGG:D02315 PMID:18772370 PMID:6205897 PMID:15325315 Drug_Central:3400 KNApSAcK:C00001232 PMID:11304127 Gmelin:57556 PMID:24819471 NCIt:C68405 PDBeChem:OLA PMID:15723125 LIPID_MAPS_instance:LMFA01030002 ECMDB:ECMDB21348" + "An octadec-9-enoic acid in which the double bond at C-9 has Z (cis) stereochemistry." "DrugBank:DB04224 Gmelin:109551 SNOMEDCT:427281002 PMID:5332408 PMID:25584012 MeSH:D019301 Reaxys:1726542 PMID:23844805 CAS:112-80-1 KEGG:C00712 Wikipedia:Oleic_acid PMID:25794012 HMDB:HMDB0000207 PMID:19761868 KEGG:D02315 PMID:18772370 PMID:6205897 PMID:15325315 Drug_Central:3400 KNApSAcK:C00001232 PMID:11304127 Gmelin:57556 PMID:24819471 NCIt:C68405 PDBeChem:OLA PMID:15723125 LIPID_MAPS_instance:LMFA01030002 ECMDB:ECMDB21348" "Quantification of the amount of 2-Aminoethanesulfonic acid in a sample." "PMID:33634981" "The amount of a D-ribitol-5-phosphate cytidylyltransferase when measured in blood serum." "Inflammation of the anatomical structures of the inner ear secondary to an infectious process. Symptoms include severe vertigo, nausea, vomiting, anxiety, and pain. Viral etiology is most common, and recent history of an upper respiratory infection is common. In rare cases an infection of the middle ear can spread to the inner ear, resulting in a bacterial or fungal etiology." "MEDGEN:217000 NCIT:C27339 UMLS:C1168225" @@ -3980,11 +3959,10 @@ "The chemical reactions and pathways involving biotin, cis-tetrahydro-2-oxothieno(3,4-d)imidazoline-4-valeric acid; the (+) enantiomer is very widely distributed in cells and serves as a carrier in a number of enzymatic beta-carboxylation reactions." "Wikipedia:Biotin" "NANDO:1200487 GARD:2031 MEDGEN:1826053 UMLS:C5679787 Orphanet:207085" - "A pyrimidine nucleoside in which cytosine is attached to D-arabinofuranose via a beta-N(1)-glycosidic bond. Used mainly in the treatment of leukaemia, especially acute non-lymphoblastic leukaemia, cytarabine is an antimetabolite antineoplastic agent that inhibits the synthesis of DNA. It also has antiviral and immunosuppressant properties." "HMDB:HMDB0015122 CAS:147-94-4 Reaxys:89175 KEGG:D00168 LINCS:LSM-5470 KEGG:C02961 Beilstein:89175 PMID:15492802 DrugBank:DB00987 Wikipedia:Cytarabine MeSH:D003561 SNOMEDCT:387511003 NCIt:C408 PDBeChem:AR3 SNOMEDCT:89265009 Drug_Central:770" + "A pyrimidine nucleoside in which cytosine is attached to D-arabinofuranose via a beta-N(1)-glycosidic bond. Used mainly in the treatment of leukaemia, especially acute non-lymphoblastic leukaemia, cytarabine is an antimetabolite antineoplastic agent that inhibits the synthesis of DNA. It also has antiviral and immunosuppressant properties." "HMDB:HMDB0015122 CAS:147-94-4 Reaxys:89175 KEGG:D00168 LINCS:LSM-5470 KEGG:C02961 PMID:15492802 DrugBank:DB00987 Wikipedia:Cytarabine MeSH:D003561 SNOMEDCT:387511003 NCIt:C408 PDBeChem:AR3 SNOMEDCT:89265009 Drug_Central:770" "A benign neoplasm that involves the endocardium." "UMLS:C0347254 MEDGEN:83863 icd11.foundation:1776419379 SCTID:92083007 NCIT:C4608" - "A superficial mycosis that is a chronic, superficial fungal infection of the skin caused by Malassezia furfur, which is characterized by well-demarcated white, pink, fawn, or brownish lesions, often coalescing, and covered with thin furfuraceous scales." "NCIT:C82981 UMLS:C0040262 MONDO:0005915 MESH:D014010 ICD9:111.0 icd11.foundation:67108853 SCTID:56454009 MEDGEN:11826 DOID:9060 ICD10CM:B36.0 MedDRA:10035117 MeSH:D014010" - "An intracranial or rarely intraspinal suppurative process invading the space between the inner surface of the dura mater and the outer surface of the arachnoid." "DOID:11389 UMLS:C0038539 MONDO:0006984 MedDRA:10042360 MESH:D013354 SNOMEDCT:37660004 MeSH:D013354 SCTID:37660004 MEDGEN:52531" + "An intracranial or rarely intraspinal suppurative process invading the space between the inner surface of the dura mater and the outer surface of the arachnoid." "DOID:11389 UMLS:C0038539 MONDO:0006984 MedDRA:10042360 MESH:D013354 SNOMEDCT:37660004 SCTID:37660004 MeSH:D013354 MEDGEN:52531" "The lateral area of the two branches of a horseshoe-shaped mesenchymal swelling in the future nasal region of the embryo; it separates the olfactory pit from the developing eye and the ala of the nose/snout develops from it." "EHDAA2:0000916 FMA:295864 Wikipedia:Lateral_nasal_prominence SCTID:308880000 EMAPA:16805 EHDAA:4786" "SNOMEDCT:75806004" @@ -4045,10 +4023,9 @@ "Quantification of MRNA-capping enzyme in a sample." "PMID:29875488" "A measure of how fast cancer cells are dividing and growing. To find the mitotic rate, the number of cells dividing in a certain amount of cancer tissue is counted. Mitotic rate is used to help find the stage of melanoma (a type of skin cancer) and other types of cancer. Higher mitotic rates are linked with lower survival rates." - "A fatty acid anion 18:0 that is the conjugate base of octadecanoic acid (stearic acid). Stearates have a variety of uses in the pharmaceutical industry." "Gmelin:344065 PMID:7452460 CAS:646-29-7 PMID:16401590 Beilstein:3590530 Reaxys:3590530 MetaCyc:STEARIC_ACID PMID:3180776 KEGG:C01530 PMID:19184617" + "A fatty acid anion 18:0 that is the conjugate base of octadecanoic acid (stearic acid). Stearates have a variety of uses in the pharmaceutical industry." "Gmelin:344065 PMID:7452460 CAS:646-29-7 PMID:16401590 Reaxys:3590530 MetaCyc:STEARIC_ACID PMID:3180776 KEGG:C01530 PMID:19184617" "OMIM:165095 CASRN:106956-32-5 MeSH:D053683 DSSTox_Generic_SID:37070" "The amount of a lithostathine-1-alpha when measured in blood serum." - "The structural changes and the signs and symptoms of chronologically aged skinand those of corticosteroid induced chronicatrophyof theskinare partially very similar.Thinningof epidermis and laxity as well as dryness, purpura and echymoses occur in both conditions." "NCIT:C35163 Wikipedia:Steroid_atrophy SCTID:400190005 DOID:2733 ICD9:701.8 MedDRA:10040799 MEDGEN:101793 UMLS:C0151514 MONDO:0006610 ICD10:L90" "Orphanet:2156 MESH:C536705 MEDGEN:163202 UMLS:C0795976 OMIM:142625" "HGNC:10806 Orphanet:207063 GARD:20391 MEDGEN:418943 MESH:C535435 UMLS:C2930900" "Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound." "OMIM:614654 MEDGEN:766288 DOID:0070242 UMLS:C3553374 GARD:17470 Orphanet:319678" @@ -4078,7 +4055,6 @@ "Cells are targeted for either removal (negative selection and depletion) or selection (positive selection) using antibody complexes directed to specific cell surface antigens. The antibody complexes link targeted cells to EasySep™ magnetic particles. Labeled cells are pulled to the sides of the tube when the sample is placed in an EasySep™ magnet. Magnetically labeled cells will remain in the tube while the untouched cells can be simply poured or pipetted off into a new tube." "Cells (completely cleaved), located at the surface of the blastodisc, above the deep blastomeres." "ZFA:0001484" "A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure." "DOID:0080092 DOID:0110286 MEDGEN:330449 OMIM:601419 UMLS:C1832370 GARD:16870 Orphanet:363543 OMIM:615325 Orphanet:98909" - "Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis." "OMIM:166710 MeSH:D010024 DOID:11476 ICD9:733.0 NCIT:C3298 MedDRA:10031289 ICD10:M80 ICD9:733.09 ICD10:M81 MONDO:0005298 MESH:D010024 GARD:11932 ICD9:733.00 ICD10:M82 MedDRA:10031282 MEDGEN:14535 SCTID:64859006 NCIt:C3298 icd11.foundation:2113001430 ICD10CM:M81 SNOMEDCT:64859006 UMLS:C0029456" "The amount of a stomatin-like protein 2 when measured in blood." "PMID:37794183" "OMIM:618371 UMLS:C5193060 MEDGEN:1683283" "The amount of a phosphopantothenoylcysteine decarboxylase when measured in blood serum." @@ -4107,7 +4083,7 @@ "OMIM:214450 OMIM:609227 ICD10:E70.3 OMIM:607624" "The presence of developmental dysplasia of the nail." "UMLS:C1834405" "The determination of the amount of nervonic acid present in a sample." - "The conjugate base of 4-hydroxybenzoic acid, comprising a 4-hydroxybenzoic acid core with a proton missing to give a charge of -1." "Reaxys:3589159 PMID:36161690 KEGG:C00156 CAS:456-23-5 UM-BBD_compID:c0104 Gmelin:326508 PMID:35585492 Beilstein:3589159 MetaCyc:4-hydroxybenzoate" + "The conjugate base of 4-hydroxybenzoic acid, comprising a 4-hydroxybenzoic acid core with a proton missing to give a charge of -1." "Reaxys:3589159 PMID:36161690 KEGG:C00156 CAS:456-23-5 UM-BBD_compID:c0104 Gmelin:326508 PMID:35585492 MetaCyc:4-hydroxybenzoate" "An epithelium that is part of a small intestine [Automatically generated definition]." "FMA:62017 SCTID:45480009 EMAPA:35778 MA:0001553 BTO:0001258 CALOHA:TS-2104 TAO:0005127 ZFA:0005127" @@ -4158,7 +4134,6 @@ "Tubular aggregate myopathy is a disorder that affects the skeletal muscles. Signs and symptoms typically begin in childhood and worsen over time. The leg muscles are most often affected, but the arm muscles may also be involved. Symptoms include muscle pain, cramping, weakness or stiffness; and exercise-induced muscle fatigue. Affected individuals may have an unusual walking style (gait) or difficulty running, climbing stairs, or getting up from a squatting position. Some individuals develop contractures. This condition may be caused by mutations in the STIM1 or ORAI1 genes. It is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has also been reported." "GARD:3884 Orphanet:2593 MEDGEN:98050 DOID:0080089 UMLS:C0410207 OMIMPS:160565" "Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated." "MEDGEN:1388343 GARD:18733 Orphanet:1643 SCTID:726733007 UMLS:C4512072" - "A Polyomaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomavirus, which cause respiratory symptoms, cystitis or skin cancer." "MEDGEN:215447 MeSH:D027601 UMLS:C0949804 MESH:D027601 DOID:647 MONDO:0005927" "The region of the mantle layer of the neural tube that lies ventral to the sulcus limitans and contains primarily motor neurons and interneurons." "NCIT:C34111 UMLS:C1511061 AAO:0010561 Wikipedia:Basal_plate_(neural_tube) neuronames:1372 EFO:0001904" "Quantification of anthrallic acid levels in a sample." "PMID:23823483" "A rare benign smooth muscle neoplasm arising from the wall of the stomach. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. Unlike gastrointestinal stromal tumors, gastric leiomyomas are by definition negative for CD34 and CD117 (C-KIT)." "DOID:10087 NCIT:C3876 SCTID:276812001 UMLS:C0238440 MEDGEN:116062" @@ -4276,7 +4251,7 @@ "Quantification of the amount of syringol sulfate in a sample." "PMID:35347128" "The amount of a guanylyl cyclase-activating protein 2 when measured in blood serum." - "A racemate composed of equimolar amounts of (R)- and (S)-nicotine." "SNOMEDCT:68540007 PMID:22589423 PMID:22448647 PMID:17942810 CAS:22083-74-5 PMID:11719700 PMID:15960296 PMID:16950410 PMID:7564279 PMID:11860617 PMID:22218403 DrugBank:DB00184 PMID:7896575 Reaxys:82108 PMID:23108361 PMID:22129149 PMID:9203638 PMID:22930863 Beilstein:82111 PMID:20338106 PMID:7097594 Wikipedia:Nicotine PMID:18311975 MeSH:D009538 PMID:17498149 PMID:22935730 PMID:19287496 PMID:9450943 NCIt:C691 PMID:22855884 PMID:21636612 PMID:21822688 PMID:12700710 PMID:15961264 SNOMEDCT:323283001 PMID:22792725 PMID:7566693 PMID:21945235 PMID:19100331 PMID:8156919 PMID:18922921 PMID:19389046 KEGG:C16150 PMID:14715938 PMID:15458549 PMID:16496293 PMID:10751565 PMID:22770225 PMID:9621392 Beilstein:82108 PMID:22585541 PMID:22529223 HMDB:HMDB0014330 PMID:15894687 PMID:18380035 PMID:12965231 PMID:11801622 PMID:15251917 PMID:22377934 PMID:12197757 PMID:18077004 PMID:18383130 PMID:8764340 PMID:17167832 PMID:20528766 PMID:11471991 PMID:7807214 PMID:22331007 PMID:11818389 PMID:22573728 PMID:23117126 PMID:11559179 PMID:22459798 PMID:15707677 PMID:19465085 PMID:15313135 PMID:11192937 PMID:17438652 KNApSAcK:C00002057 PMID:11682702 PMID:15183514 PMID:18651995 PMID:8545712 UM-BBD_compID:c0468 PMID:11714820 PMID:17206646" + "A racemate composed of equimolar amounts of (R)- and (S)-nicotine." "SNOMEDCT:68540007 PMID:22589423 PMID:22448647 PMID:17942810 CAS:22083-74-5 PMID:11719700 PMID:15960296 PMID:16950410 PMID:7564279 PMID:11860617 PMID:22218403 DrugBank:DB00184 PMID:7896575 Reaxys:82108 PMID:23108361 PMID:22129149 PMID:9203638 PMID:22930863 Beilstein:82111 PMID:20338106 PMID:7097594 Wikipedia:Nicotine PMID:18311975 MeSH:D009538 PMID:17498149 PMID:22935730 PMID:19287496 PMID:9450943 NCIt:C691 PMID:22855884 PMID:21636612 PMID:21822688 PMID:12700710 PMID:15961264 SNOMEDCT:323283001 PMID:22792725 PMID:7566693 PMID:21945235 PMID:19100331 PMID:8156919 PMID:18922921 PMID:19389046 KEGG:C16150 PMID:14715938 PMID:15458549 PMID:16496293 PMID:10751565 PMID:22770225 PMID:9621392 PMID:22585541 PMID:22529223 HMDB:HMDB0014330 PMID:15894687 PMID:18380035 PMID:12965231 PMID:11801622 PMID:15251917 PMID:22377934 PMID:12197757 PMID:18077004 PMID:18383130 PMID:8764340 PMID:17167832 PMID:20528766 PMID:11471991 PMID:7807214 PMID:22331007 PMID:11818389 PMID:22573728 PMID:23117126 PMID:11559179 PMID:22459798 PMID:15707677 PMID:19465085 PMID:15313135 PMID:11192937 PMID:17438652 KNApSAcK:C00002057 PMID:11682702 PMID:15183514 PMID:18651995 PMID:8545712 UM-BBD_compID:c0468 PMID:11714820 PMID:17206646" "Common occlusive arterial disease which is caused by ATHEROSCLEROSIS. It is characterized by lesions in the innermost layer (ARTERIAL INTIMA) of arteries including the AORTA and its branches to the extremities. Risk factors include smoking, HYPERLIPIDEMIA, and HYPERTENSION." "MEDGEN:13915 UMLS:C0003851 MeSH:D001162 ICD9:440.8 MedDRA:10065418 SNOMEDCT:361133006 MONDO:0006659 DOID:5160 SCTID:361133006 MESH:D001162" "A rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionally, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described." "UMLS:C4707858 Orphanet:319192 MEDGEN:1641855 OMIMPS:251280 GARD:21407" "Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia, tremor and cognitive impairment." "GARD:10477 MESH:C564685 DOID:0050966 Orphanet:98769 SCTID:716724006 MEDGEN:338301 Orphanet:98770 NCIT:C150250 DOID:0050965 UMLS:C1847725 OMIM:606658" @@ -4302,8 +4277,6 @@ "An uneasy psychological state; the anxious feeling you have when you have the jitters." "quantification of some aspect of job-related exhaustion such as severity or duration" "PMID:27748236" "An abnormality of the liver." "ICD10:Q44 UMLS:C4021780 SNOMEDCT_US:235856003 UMLS:C0023895" - "A picomole is a substance unit equal to 10^-12 mol." "MO:688 SNOMEDCT:258721003 NCIt:C65045" - "Catalysis of the hydrolysis of alpha-L-iduronosidic linkages in dermatan sulfate." "Reactome:R-HSA-9036037 MetaCyc:3.2.1.76-RXN Reactome:R-HSA-1678716 Reactome:R-HSA-9036041 Reactome:R-HSA-1793186 Reactome:R-HSA-2090037 EC:3.2.1.76 Reactome:R-HSA-2206299" "Is a quantification of frontal theta event related oscillations, determined by target processing in an oddball paradigm." "C. elegans stage right after a larva recovered from dauer but has not started transformation to L4 larva yet." "WBls:0000052" @@ -4570,7 +4543,7 @@ "The use of 10x Genomics feature barcode technology with the purpose of multiplexing single-cell samples from different sources." "A mild or intermediate form of a genetic disease." "A benign neoplasm that involves the mouth floor." "UMLS:C0153934 icd11.foundation:1774137950 ICD9:210.3 MEDGEN:102295 NCIT:C3593 ICD10CM:D10.2 SCTID:92109005" - "A bile acid that is 5beta-cholan-24-oic acid bearing three alpha-hydroxy substituents at position 3, 7 and 12." "MeSH:D019826 NCIt:C91035 HMDB:HMDB0000619 Reaxys:2822009 LINCS:LSM-5541 KEGG:C00695 SNOMEDCT:17147002 MetaCyc:CHOLATE LIPID_MAPS_instance:LMST04010001 PMID:22770225 Drug_Central:3096 Beilstein:2822009 PDBeChem:CHD CAS:81-25-4 Wikipedia:Cholic_Acid DrugBank:DB02659" + "A bile acid that is 5beta-cholan-24-oic acid bearing three alpha-hydroxy substituents at position 3, 7 and 12." "MeSH:D019826 NCIt:C91035 HMDB:HMDB0000619 Reaxys:2822009 LINCS:LSM-5541 KEGG:C00695 SNOMEDCT:17147002 MetaCyc:CHOLATE LIPID_MAPS_instance:LMST04010001 PMID:22770225 Drug_Central:3096 PDBeChem:CHD CAS:81-25-4 Wikipedia:Cholic_Acid DrugBank:DB02659" "Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties." "DOID:0050980 MESH:C566146 Orphanet:217012 MEDGEN:348439 NCIT:C176901 GARD:9975 icd11.foundation:250956064 UMLS:C1861736 OMIM:117210 SCTID:715826005 NANDO:1200044" @@ -4604,7 +4577,6 @@ "The amount of a synaptosomal-associated protein 29 when measured in blood serum." "The amount of a cobalamin binding intrinsic factor when measured in blood serum." "The amount of a urotensin-2 receptor when measured in blood serum." - "a disease in lymphatic system" "UMLS:C4021976 MEDGEN:892707 NCIT:C50764 ICD10:J35 MONDO:0005833 MESH:D008206 ICD10:I89 DOID:75 SCTID:362971004" "RRID:CVCL_1472 CLO:0007997 BTO:0003244" "The chemical reactions and pathways resulting in the breakdown of ketone bodies, any one of the three substances: acetoacetate, D-3-hydroxybutyrate (beta-hydroxybutyrate) or acetone. Ketone bodies can be used as an energy source as an alternative to glucose. Utilization of ketone bodies in peripheral tissues involves conversion of acetoacetate to acetoacetyl-CoA, which is then converted to two molecules of acetyl-CoA." "MetaCyc:PWY66-368" "An electrocardiographic finding of a myocardial infarction that does not produce elevations in the ST segment of the EKG. [ NCI ]" "NCIt:C80383" @@ -4678,7 +4650,7 @@ "A cell line derived from a lymphatic system plasma cell neoplasm." "A disease involving leukocytes." "ICD9:288 DOID:9500 SCTID:54097007 MEDGEN:7325 UMLS:C0023510 MESH:D007960 ICD9:288.9" "Quantification of sphingomyeline C16:0 measurement in a sample." "PMID:26068415" - "A member of the class of ethylenediamine derivatives that is ethylenediamine in which one of the nitrogens is substituted by two methyl groups, and the other nitrogen is substituted by a 2-pyridyl group and a (2-thienyl)methyl group." "Patent:US2581868 CAS:91-80-5 Reaxys:220729 PMID:22015589 SNOMEDCT:59338009 Beilstein:220729 NCIt:C81143 Wikipedia:Methapyrilene DrugBank:DB04819 KEGG:C11114 PMID:24486436 LINCS:LSM-5582 MeSH:D008701 PMID:11137066 Drug_Central:1738" + "A member of the class of ethylenediamine derivatives that is ethylenediamine in which one of the nitrogens is substituted by two methyl groups, and the other nitrogen is substituted by a 2-pyridyl group and a (2-thienyl)methyl group." "Patent:US2581868 CAS:91-80-5 Reaxys:220729 PMID:22015589 SNOMEDCT:59338009 NCIt:C81143 Wikipedia:Methapyrilene DrugBank:DB04819 KEGG:C11114 PMID:24486436 LINCS:LSM-5582 MeSH:D008701 PMID:11137066 Drug_Central:1738" "OMIM:615735 ICD10:Q82.8" "ICD9:535.61 UMLS:C0341245 MEDGEN:137951 SCTID:95531001" "A group of pathological conditions characterized by sudden, non-convulsive loss of neurological function due to BRAIN ISCHEMIA or INTRACRANIAL HEMORRHAGES. Stroke is classified by the type of tissue NECROSIS, such as the anatomic location, vasculature involved, etiology, age of the affected individual, and hemorrhagic vs. non-hemorrhagic nature. (From Adams et al., Principles of Neurology, 6th ed, pp777-810)" "MESH:D020521 SNOMEDCT:422504002 MedDRA:10042244 MEDGEN:52522 OMIM:601367 NIFSTD:birnlex_12783 MeSH:D020521 NCIt:C3390 ICD10:I64 MONDO:0005098 NCIT:C3390 HP:0001297 UMLS:C0038454 SCTID:230690007 SNOMEDCT:230690007" @@ -4687,13 +4659,12 @@ "The amount of a protein TMED8 when measured in blood." "PMID:37794183" "OMIM:615771 OMIM:615763 OMIM:615412 OMIM:615411 OMIM:615282" "Lymphoblastoid cell line from an Esan male from Nigeria" "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03280&Product=CC" - "Enables the transfer of chloride ions from one side of a membrane to the other." "Reactome:R-HSA-5678822 RHEA:29823 Reactome:R-HSA-5678992 Reactome:R-HSA-5678863" + "Enables the transfer of chloride ions from one side of a membrane to the other." "Reactome:R-HSA-5678822 Reactome:R-HSA-5678992 Reactome:R-HSA-5678863" "A arteriosclerosis disorder that involves the retina." "MEDGEN:573178 UMLS:C0339478 ICD9:440.8 SCTID:95691008" "Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene." "NCIT:C153290 Orphanet:353277 UMLS:C4551859 MEDGEN:1639327 GARD:17534 OMIM:180849" "Quantification of UPF0577 protein KIAA1324-like in a sample." "PMID:29875488" "Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes." "OMIM:100100 UMLS:C0033770 MEDGEN:18718 MESH:C536477 DOID:0060889 NCIT:C85033 icd11.foundation:1393408621 SCTID:5187006 MESH:D011535 GARD:7479 NORD:1623 Orphanet:2970 ICD9:756.71 NANDO:2200185 MedDRA:10051025" - "An idiopathic syndrome characterized by one or more of the following; recurrent orofacial swelling, relapsing facial paralysis, and fissured tongue (lingua plicata). The onset is usually in childhood and relapses are common. Cheilitis granulomatosa is a monosymptomatic variant of this condition. (Dermatol Clin 1996 Apr;14(2):371-9; Magalini & Magalini, Dictionary of Medical Syndromes, 4th ed, p531)" "GARD:7010 NCIt:C84886 MeSH:D008556 UMLS:C0025235 MEDGEN:6291 MESH:D008556 MedDRA:10027166 Orphanet:2483 NORD:1429 NCIT:C84886 OMIM:155900 DOID:1761 MONDO:0007969" "GARD:20388 UMLS:C5680807 MEDGEN:1842598 Orphanet:207049" "Tumors or cancer of the anal gland." "MeSH:D000694 DOID:4550" @@ -4745,7 +4716,7 @@ "Orphanet:97945" "SNOMEDCT:103586001" "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the UBQLN2 gene." "DOID:0060206 UMLS:C3275459 OMIM:300857 MEDGEN:477090 GARD:15269" - "A member of the class of phenothiazines that is 10H-phenothiazine having a trifluoromethyl subsitituent at the 2-position and a 3-[4-(2-hydroxyethyl)piperazin-1-yl]propyl group at the N-10 position." "Patent:US3058979 PMID:5128930 DrugBank:DB00623 Gmelin:1231182 Patent:GB829246 Patent:US3194733 Wikipedia:Fluphenazine PMID:16117689 KEGG:D07977 PMID:13950763 LINCS:LSM-3226 Patent:GB833474 PMID:25595294 KEGG:C07010 PMID:1650428 Beilstein:1189506 CAS:69-23-8 Reaxys:61643 PMID:16839522 Beilstein:61643 HMDB:HMDB0014761 Drug_Central:1212" + "A member of the class of phenothiazines that is 10H-phenothiazine having a trifluoromethyl subsitituent at the 2-position and a 3-[4-(2-hydroxyethyl)piperazin-1-yl]propyl group at the N-10 position." "Patent:US3058979 PMID:5128930 DrugBank:DB00623 Gmelin:1231182 Patent:GB829246 Patent:US3194733 Wikipedia:Fluphenazine PMID:16117689 KEGG:D07977 PMID:13950763 LINCS:LSM-3226 Patent:GB833474 PMID:25595294 KEGG:C07010 PMID:1650428 Beilstein:1189506 CAS:69-23-8 Reaxys:61643 PMID:16839522 HMDB:HMDB0014761 Drug_Central:1212" "Human B-cell lymphoma cell line from a 67-year-old male patient" "An inherited susceptibility or predisposition to developing age related macular degeneration in which the cause of the disease is a mutation in the CFI gene." "UMLS:C3809523 MEDGEN:815853 OMIM:615439 DOID:0110025" @@ -5089,12 +5060,11 @@ "Skeletal muscle derived from cranial mesoderm and controls eye movements." "CALOHA:TS-0305 MESH:D009801 BTO:0001579 EHDAA2:0000482 ZFA:0000511 EFO:0001921 SCTID:181150000 EHDAA:5729 EMAPA:18234 VHOG:0000549 AAO:0010028 FMA:49033 TAO:0000511 Wikipedia:Extraocular_muscles MA:0001271" "A group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features." "Orphanet:93973 OMIM:309580 UMLS:C4759781 MEDGEN:1676827 Orphanet:93972 Orphanet:93971 SCTID:717763008 Orphanet:73220 SCTID:719212004 DOID:0080982 MESH:C537445 Orphanet:93974 Orphanet:93970 GARD:3521" "The determination of the amount of calcineurin subunit B type 1 in a sample" "PMID:28240269" - "An organosulfonate oxoanion that is the conjugate base of taurodeoxycholic acid." "KEGG:C05463 Reaxys:3919126 Beilstein:3919126" + "An organosulfonate oxoanion that is the conjugate base of taurodeoxycholic acid." "KEGG:C05463 Reaxys:3919126" "quantification of the amount of complement factor H-related protein 5 in a sample" "The amount of a high affinity immunoglobulin epsilon receptor subunit alpha when measured in blood serum." - "A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. --2003[accessedResource: NCIt:C3138][accessDate: 05-04-2011]" "MedDRA:10021184 MESH:D015212 OMIM:618077 OMIM:612245 ICD9:558.9 OMIMPS:266600 OMIM:612261 MEDGEN:43877 UMLS:C0021390 SCTID:24526004 OMIM:612278 MedDRA:10021972 OMIM:611081 NCIt:C3138 OMIM:608448 OMIM:612244 NCIT:C3138 DOID:0050589 SNOMEDCT:24526004 NANDO:2100259 MONDO:0005265 MeSH:D015212" "CS57901 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158925&type=germplasm" "Quantification of the amount of X-10429 in a sample." "PMID:24816252" "The amount of a Rap guanine nucleotide exchange factor 2 when measured in blood." "PMID:37794183" @@ -5231,7 +5201,7 @@ "A benzodiazepine that is 10H-thieno[2,3-b][1,5]benzodiazepine substituted by a methyl group at position 2 and a 4-methylpiperazin-1-yl group at position 4." "PMID:18504690 Reaxys:7655141 CAS:132539-06-1 PMID:18022155 DrugBank:DB00334 SNOMEDCT:386849001 Patent:US5229382 KEGG:C07322 Patent:EP454436 NCIt:C47639 KEGG:D00454 Wikipedia:Olanzapine Drug_Central:1982 MeSH:C076029 PMID:18792627 SNOMEDCT:108441004" "Quantification of the amount of 3-Methylcrotonyl glycine in a sample." "PMID:33634981" "Benign infantile focal epilepsy with midline spikes and waves during sleep is a rare infantile epilepsy syndrome characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region." "GARD:20075 UMLS:C4749346 Orphanet:166308 MEDGEN:1663004" - "Epithelial tube that transports milk[GO]." "CALOHA:TS-2385 UMLS:C0222613 SCTID:361719004 MA:0000791 NCIT:C32910 EMAPA:35538 BTO:0002845 Wikipedia:Lactiferous_duct FMA:58006" + "Epithelial tube that transports milk[GO]." "CALOHA:TS-2385 UMLS:C0222613 SCTID:361719004 NCIT:C32910 MA:0000791 EMAPA:35538 BTO:0002845 Wikipedia:Lactiferous_duct FMA:58006" "Mature CD8_alpha-low Langerhans cell is a CD8_alpha-low Langerhans cell that that is CD80-high, CD86-high, MHCII-high and is CD83-positive." "An instance of cutis laxa that is acquired during the lifetime of the individual." "GARD:20586 icd11.foundation:807277512 SCTID:19726003 Orphanet:228285 MEDGEN:590500 UMLS:C0406549" @@ -5297,11 +5267,10 @@ "Quantification of the ratio of isoleucine to X-11529 in a sample." "PMID:24816252" "PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" - "A non-neoplastic or neoplastic disorder affecting the inner ear. Causes are inner ear infections, head injuries, and neoplasms (e.g., acoustic schwannoma). Symptoms include dizziness, imbalance, nausea, and vision problems." "NCIt:C27166 MESH:D007759 MEDGEN:141671 MONDO:0002467 SCTID:232297009 ICD10CM:H80-H83 ICD10:H83 DOID:2952 NCIT:C27166 UMLS:C0494559" + "A non-neoplastic or neoplastic disorder affecting the inner ear. Causes are inner ear infections, head injuries, and neoplasms (e.g., acoustic schwannoma). Symptoms include dizziness, imbalance, nausea, and vision problems." "NCIt:C27166 MONDO:0002467 ICD10CM:H80-H83 NCIT:C27166 SCTID:232297009 MEDGEN:141671 DOID:2952 ICD10:H83 UMLS:C0494559 MESH:D007759" "A carcinoma that arises from epithelial cells of the anus" "DOID:4908 SCTID:448315008 MEDGEN:76006 NCIT:C9291 UMLS:C0279637" "Quantification of the amount of Inositol in a sample." "PMID:33634981" "The Illumina NextSeq 500 is a benchtop high-throughput sequencing machine developed by Illumina." - "A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. ELECTROENCEPHALOGRAPHY demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the CEREBRAL CORTEX or from subcortical structures (e.g., BRAIN STEM; BASAL GANGLIA). This condition is associated with Russian Spring and Summer encephalitis (see ENCEPHALITIS, TICK BORNE); Rasmussen syndrome (see ENCEPHALITIS); MULTIPLE SCLEROSIS; DIABETES MELLITUS; BRAIN NEOPLASMS; and CEREBROVASCULAR DISORDERS. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319)" "MedDRA:10015035 MESH:D017036 MEDGEN:39303 MedDRA:10015034 SCTID:241006 MONDO:0006748 MedDRA:10015036 ICD9:345.70 MeSH:D017036 ICD9:345.7 DOID:11349 icd11.foundation:669338526 UMLS:C0085543 SNOMEDCT:241006" "A group of viral illnesses that are vectored by mosquitoes, and that are characterized by increased susceptibility to bleeding diatheses. [ NCI ]" "NCIt:C35174 ICD10:A92" "A recorded follow-up status noting that a patient is alive." "CS57770 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158794&type=germplasm" @@ -5594,7 +5563,7 @@ "Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed." "UMLS:C5574965 MEDGEN:1803615 Orphanet:391474 GARD:12642 OMIM:136760 NCIT:C129028 DOID:0081045" "This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis." "MEDGEN:928487 Orphanet:178377 SCTID:722117000 GARD:20147 UMLS:C4302818" - "Catalysis of the reaction: 3-methylbut-2-enoyl-CoA + ATP + bicarbonate = trans-3-methylglutaconyl-CoA + ADP + 2 H+ + phosphate." "EC:6.4.1.4 KEGG_REACTION:R04138 Reactome:R-HSA-70773 MetaCyc:METHYLCROTONYL-COA-CARBOXYLASE-RXN RHEA:13589 Reactome:R-HSA-508308" + "Catalysis of the reaction: 3-methylbut-2-enoyl-CoA + ATP + bicarbonate = trans-3-methylglutaconyl-CoA + ADP + 2 H+ + phosphate." "Reactome:R-HSA-9909466 EC:6.4.1.4 KEGG_REACTION:R04138 Reactome:R-HSA-70773 MetaCyc:METHYLCROTONYL-COA-CARBOXYLASE-RXN RHEA:13589 Reactome:R-HSA-508308" "A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin lymphoma and Kaposi sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood." "NANDO:2100212 MedDRA:10001509 SCTID:62479008 MONDO:0012268 NCIT:C2851 SNOMEDCT:62479008 MeSH:D000163 NANDO:2200809 UMLS:C0001175 DOID:635 NCIt:C2851 MEDGEN:99 MESH:D000163 ICD10:B20" "A rare entity characterized by localized but destructive growth of a tumor consisting of highly atypical, immature mast cells.(WHO, 2001)" "MEDGEN:11322 icd11.foundation:1993363632 icd11.foundation:233404891 ICD10:C96.2 UMLS:C0036221 NCIT:C9348 ICDO:9740/3 ONCOTREE:MCSL EFO:1000364 GARD:18870 MESH:D012515 ICD9:202.6 Orphanet:66661 SCTID:118615008 MONDO:0019024 DOID:355" @@ -5618,7 +5587,6 @@ "UMLS:C5543616 OMIM:619402 MEDGEN:1779612" "SNOMEDCT:415101005 MeSH:D000458" "A mass unit which is equal to one millionth of a gram or 10^[-6] g." "NCIt:C48152 SNOMEDCT:258685003 MO:438" - "A syndrome characterized by recurrent episodes of excruciating pain lasting several seconds or longer in the sensory distribution of the TRIGEMINAL NERVE. Pain may be initiated by stimulation of trigger points on the face, lips, or gums or by movement of facial muscles or chewing. Associated conditions include MULTIPLE SCLEROSIS, vascular anomalies, ANEURYSMS, and neoplasms. (Adams et al., Principles of Neurology, 6th ed, p187)" "ICD9:350.1 icd11.foundation:1803581281 MedDRA:10044652 NORD:1791 ICD10:G50.0 MEDGEN:21683 MeSH:D014277 Orphanet:221091 MONDO:0008599 UMLS:C0040997 DOID:12098 GARD:7805 SNOMEDCT:31681005 OMIM:190400 MESH:D014277 SCTID:31681005 ICD10CM:G50.0" "Quantification of the amount of S-methylcysteine in a sample." "PMID:35347128" "Isolated scaphocephaly is a form of nonsyndromic craniosynostosis characterized by premature fusion of the sagittal suture." "Orphanet:35093" @@ -5687,7 +5655,6 @@ "The amount of a protein S100-Z when measured in blood serum." "MEDGEN:333550 GARD:18073 DOID:0111373 OMIM:145250 UMLS:C1840392" - "A viral infectious disease that results_in infection in cattle and swine, has_material_basis_in Foot-and-mouth disease virus, which is transmitted_by contaminated fomites, or transmitted_by ingestion of food contaminated with infected meat or animal products. The infection results_in_formation_of vesicles in the mouth, or on the feet and has_symptom lameness." "MeSH:D005536 MESH:D005536 icd11.foundation:1008730501 MedDRA:10016961 DOID:11261 MONDO:0005765" "OMIM:304350" "Vascular anomalies are abnormalities or disorders of the vascular system, either in veins or arteries. Vascular anomalies are classified as either a vascular tumor or a vascular malformation." "Orphanet:68419" @@ -5820,7 +5787,7 @@ "UMLS:C3280296 SCTID:703369003 OMIM:614261 Orphanet:294016 GARD:17354 ICD9:759.89 MEDGEN:481926" "The amount of a protein DPCD when measured in blood serum." "MEDGEN:1794200 UMLS:C5561990 OMIM:619534" - "A member of the class of formamides having a N-methyl substituent." "Wikipedia:N-Methylformamide NCIt:C1163 HMDB:HMDB0001122 Beilstein:1098352 KEGG:C11489 CAS:123-39-7 PMID:24473177 MeSH:C002950 PMID:19634900 SNOMEDCT:117186002 Gmelin:917 PMID:3712373 Reaxys:1098352" + "A member of the class of formamides having a N-methyl substituent." "Wikipedia:N-Methylformamide NCIt:C1163 HMDB:HMDB0001122 KEGG:C11489 CAS:123-39-7 PMID:24473177 MeSH:C002950 PMID:19634900 SNOMEDCT:117186002 Gmelin:917 PMID:3712373 Reaxys:1098352" "A specific learning disability involving mathematics and arithmetic." "UMLS:C1411876 SNOMEDCT_US:47916000 UMLS:C4280576" "human myelodysplasic cell line established from the peripheral blood of a 76-year-old Japanese man with acute monoblastic leukemia (AML M5) in 1989 following myelodysplastic syndromes (DSMZ catalog number ACC 547)" "BTO:0006520 CLO:0037289 RRID:CVCL_0098" @@ -6013,7 +5980,7 @@ "A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Rhabditida, characterized by oral aperture with 2, 3 or 6 lips." "MEDGEN:57950 MESH:D017196 MONDO:0005943 MeSH:D017196 UMLS:C0162631 DOID:2906" "MEDGEN:1734133 MESH:C537871 NANDO:2200737 GARD:18311 UMLS:C5435698 Orphanet:220465 DOID:0080836 OMIM:245590 SCTID:724179008" "UMLS:C5561968 MEDGEN:1794178 OMIM:619489" - "Unspecified juvenile idiopathic arthritis is a rare, pediatric, rheumatologic disease, a subtype of juvenile idiopathic arthritis (JIA) characterized by arthritis of an unknown cause that persists for at least 6 weeks, and does not fulfill the criteria for any of the other JIA subtypes, or fulfills criteria for more than one of the other subtypes." "MEDGEN:1842681 PMID:14760812 UMLS:C5680196 Orphanet:91140 GARD:19155 MONDO:0019607 NANDO:2201061" + "Unspecified juvenile idiopathic arthritis is a rare, pediatric, rheumatologic disease, a subtype of juvenile idiopathic arthritis (JIA) characterized by arthritis of an unknown cause that persists for at least 6 weeks, and does not fulfill the criteria for any of the other JIA subtypes, or fulfills criteria for more than one of the other subtypes." "MEDGEN:1842681 PMID:14760812 Orphanet:91140 UMLS:C5680196 GARD:19155 MONDO:0019607 NANDO:2201061" "A hypogammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells. Patients with common variable immunodeficiency have marked reduction in serum levels of both immunoglobulin G (IgG) and immunoglobulin A (IgA); about half of these patients also have reduced immunoglobulin M (IgM)." "SNOMEDCT:23238000 MeSH:D017074 DOID:12177 NCIt:C26725 ICD9:279.06 OMIM:607594" @@ -6066,7 +6033,7 @@ "GARD:18297 SCTID:720576001 Orphanet:178506 UMLS:C5436276 OMIM:618007 OMIM:613658 MEDGEN:1750003" "The amount of a smad5 when measured in blood serum." "Quantification of p53 and DNA damage-regulated protein 1 in a sample." "PMID:29875488" - "A final common manifestation of a wide variety of chronic kidney diseases characterized by glomerulosclerosis and tubulointerstitial fibrosis." "DOID:0050855 SNOMEDCT:197660000 MONDO:0000494 HP:0030760 SCTID:197660000 MEDGEN:508798 MP:0003985 PMID:16408108 UMLS:C0151650" + "A final common manifestation of a wide variety of chronic kidney diseases characterized by glomerulosclerosis and tubulointerstitial fibrosis." "DOID:0050855 SNOMEDCT:197660000 HP:0030760 MONDO:0000494 SCTID:197660000 MEDGEN:508798 MP:0003985 PMID:16408108 UMLS:C0151650" "The amount of a CDGSH iron-sulfur domain-containing protein 1 when measured in blood serum." "The amount of a plastin-1 when measured in blood serum." @@ -6167,7 +6134,7 @@ "Aphalangy-syndactyly-microcephaly is an extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability." "MEDGEN:324958 GARD:748 Orphanet:1113 UMLS:C1838161 MESH:C563942 OMIM:600384" - "A L-histidine derivative that is N(alpha),N(alpha),N(alpha)-trimethyl-L-histidine in which the hydrogen at position 2 on the imdazole ring is replaced by a mercapto group. A naturally occurring metabolite of histidine synthesized by bacteria and fungi with antioxidant properties. It is found ubiquitously in plants and animals and is present in many human foodstuffs." "PMID:19911007 PMID:20420449 PMID:26338495 PMID:27134772 PMID:7144630 PMID:26542137 PMID:26079795 KEGG:C05570 CAS:497-30-3 PMID:26229105 PMID:19660151 PMID:23418129 PMID:23494799 PMID:25154712 PMID:18841979 PMID:25736892 PMID:27444382 PMID:26774486 PMID:26149121 PMID:15030958 PMID:27101740 HMDB:HMDB0003045 Wikipedia:Ergothioneine PMID:26713511 Beilstein:5755696 PMID:23922985 Reaxys:8411606 PMID:26579093 PMID:15744438 PMID:26921894 PMID:26412552 Reaxys:5755696 MetaCyc:CPD-15276 PMID:18670092 PMID:26772879 PMID:26634964 PMID:27306320 PMID:24392160 PMID:17616140 PMID:26994919" + "A L-histidine derivative that is N(alpha),N(alpha),N(alpha)-trimethyl-L-histidine in which the hydrogen at position 2 on the imdazole ring is replaced by a mercapto group. A naturally occurring metabolite of histidine synthesized by bacteria and fungi with antioxidant properties. It is found ubiquitously in plants and animals and is present in many human foodstuffs." "PMID:19911007 PMID:20420449 PMID:26338495 PMID:27134772 PMID:7144630 PMID:26542137 PMID:26079795 KEGG:C05570 CAS:497-30-3 PMID:26229105 PMID:19660151 PMID:23418129 PMID:23494799 PMID:25154712 PMID:18841979 PMID:25736892 PMID:27444382 PMID:26774486 PMID:26149121 PMID:15030958 PMID:27101740 HMDB:HMDB0003045 Wikipedia:Ergothioneine PMID:26713511 PMID:23922985 Reaxys:8411606 PMID:26579093 PMID:15744438 PMID:26921894 PMID:26412552 Reaxys:5755696 MetaCyc:CPD-15276 PMID:18670092 PMID:26772879 PMID:26634964 PMID:27306320 PMID:24392160 PMID:17616140 PMID:26994919" "A spondyloepimetaphyseal dysplasia characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly." "Orphanet:93352 GARD:4980 MEDGEN:400703 SCTID:719201004 icd11.foundation:1389783101 MESH:C566523 UMLS:C1865185 OMIM:602557" "α-B-Crystallin (CryAB, gene map locus: 11q22.3-q23.1) is a member of the small heat shock protein (HSP) family, a group of proteins that prevent protein aggregation upon exposure of a cell to heat and/or restore the biological activity of cell substrates. The missense mutation and the deletion mutation of CryAB can cause various forms of muscular disorder, including restrictive, hypertrophic, and dilated cardiomyopathies, heart failure, and skeletal muscle weakness. Collectively, these diseases constitute a rare autosomal-dominant inherited disorder called α-crystallinopathy (crystallinopathy), also known as desmin-related cardiomyopathy." "Orphanet:98910" "Quantification of interferon alpha-4 in a sample." "PMID:29875488" @@ -6303,7 +6270,7 @@ "A calculated measurement in which the number of neutrophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. A neutrophil is, or is in the process of becoming, a granular leucocyte having a nucleus with three to five lobes connected by threads of chromatin, cytoplasm containing very fine granules, and which is readily stainable with neutral dyes." "CMO:0000370" "Quantification of the amount of X-23756 in a sample." "PMID:35050183" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ELP2 gene." "UMLS:C4310641 OMIM:617270 GARD:13361 DOID:0081220 MEDGEN:934608" - "An alpha-amino acid that consists of propionic acid bearing an amino substituent at position 2." "CAS:302-72-7 Gmelin:2449 SNOMEDCT:58753009 Wikipedia:Alanine NCIt:C29605 MeSH:D000409 Beilstein:635807 Reaxys:635807 Drug_Central:4306 PMID:17439666 PMID:22264337 KEGG:C01401" + "An alpha-amino acid that consists of propionic acid bearing an amino substituent at position 2." "CAS:302-72-7 Gmelin:2449 SNOMEDCT:58753009 Wikipedia:Alanine NCIt:C29605 MeSH:D000409 Reaxys:635807 Drug_Central:4306 PMID:17439666 PMID:22264337 KEGG:C01401" "DOID:0081378 UMLS:C4693523 MEDGEN:1632999 OMIM:617892" "Idiopathic syringomyelia is a rare, non-syndromic central nervous system malformation characterized by a longitudinally oriented fluid-filled cavity inside the spinal cord parenchyma or the central canal, without any readily identifiably cause. It is usually associated with pain, sensory and/or musculoskeletal disturbances, but it can also be an incidental and asymptomatic finding." "icd11.foundation:1218010255 SCTID:725001004 GARD:19693 UMLS:C4511700 MEDGEN:1378771 Orphanet:99858" "Seborrheic keratosis that arises from follicular structures in the vulva. It is characterized by the presence of prominent squamous eddies." "NCIT:C40291 DOID:6943 MEDGEN:274414 UMLS:C1520084 MONDO:0006621" @@ -6378,7 +6345,6 @@ "A carcinoma that arises from the major or minor salivary glands. Representative examples include carcinoma ex pleomorphic adenoma, adenocarcinoma, adenoid cystic carcinoma, and mucoepidermoid carcinoma." "MEDGEN:215302 NANDO:2200076 NCIT:C9272 DOID:0050904 ONCOTREE:SACA UMLS:C0948750" "A cellular quality inhering in a bearer by virtue of the bearer's number of homologous sets of chromosomes in the nucleus or primary chromosome-containing compartment of the cell, each set essentially coding for all the biological traits of the organism. [ Wikipedia:http://en.wikipedia.org/wiki/Ploidy ] " "Wikipedia:Ploidy NCIt:C17001 MO:220 SNOMEDCT:88183001" "OMIM:619575 MEDGEN:1794214 UMLS:C5562004" - "A chronic disorder marked by hardening and thickening of the skin. Scleroderma can be localized or it can affect the entire body (systemic)." "MEDGEN:3770 NCIt:C0011644 NCIT:C26746 MeSH:D012594 MedDRA:10039710 MONDO:0019340 MedDRA:10027979 DOID:419 Orphanet:801 GARD:18705 UMLS:C0011644 HP:0100324" "The amount of a phytanoyl-CoA hydroxylase-interacting protein when measured in blood serum." "Quantification of synaptotagmin-7 in a sample." "PMID:29875488" "The amount of a TGF-beta 1 when measured in blood." "PMID:37794183" @@ -6405,7 +6371,7 @@ "OMIM:613795" "Blockage of the normal flow of contents of the urinary tract." "NANDO:2200178 DOID:5200 MONDO:0003330 NCIT:C3675 NCIt:C3675 UMLS:C0178879 ICD10:N13.9 SCTID:7163005 ICD10:N13 MedDRA:10061574 ICD9:599.6 MEDGEN:64247 ICD9:599.60" "The amount of a Ras-related protein Rab-14 when measured in blood serum." - "A gamma-amino acid that is cyclohexane substituted at position 1 by aminomethyl and carboxymethyl groups. Used for treatment of neuropathic pain and restless legs syndrome." "PMID:22048285 PMID:23053645 Patent:US2009292138 Patent:WO2005037784 PMID:22279347 Patent:US2008269326 PMID:22464746 Patent:US2012046272 PMID:22296650 PMID:22419014 PMID:22612015 PMID:22575516 PMID:22422817 Reaxys:2359739 CAS:60142-96-3 PMID:22556282 Wikipedia:Gabapentin PMID:22352861 LINCS:LSM-5716 DrugBank:DB00996 PMID:22240839 PMID:22865488 PMID:22240859 Patent:US2008103334 KEGG:D00332 VSDB:2975 Patent:WO2008060572 PMID:22946876 Beilstein:2359739 PMID:22467888 Patent:WO2010023694 PMID:22345405 Patent:EP1140793 PDBeChem:GBN PMID:22144034 Drug_Central:1264 Patent:US2009043126 PMID:23018586 PMID:22934077 PMID:22888801 HMDB:HMDB0005015" + "A gamma-amino acid that is cyclohexane substituted at position 1 by aminomethyl and carboxymethyl groups. Used for treatment of neuropathic pain and restless legs syndrome." "PMID:22048285 PMID:23053645 Patent:US2009292138 Patent:WO2005037784 PMID:22279347 Patent:US2008269326 PMID:22464746 Patent:US2012046272 PMID:22296650 PMID:22419014 PMID:22612015 PMID:22575516 PMID:22422817 Reaxys:2359739 CAS:60142-96-3 PMID:22556282 Wikipedia:Gabapentin PMID:22352861 LINCS:LSM-5716 DrugBank:DB00996 PMID:22240839 PMID:22865488 PMID:22240859 Patent:US2008103334 KEGG:D00332 VSDB:2975 Patent:WO2008060572 PMID:22946876 PMID:22467888 Patent:WO2010023694 PMID:22345405 Patent:EP1140793 PDBeChem:GBN PMID:22144034 Drug_Central:1264 Patent:US2009043126 PMID:23018586 PMID:22934077 PMID:22888801 HMDB:HMDB0005015" "An infection caused by the human immunodeficiency virus." "SNOMEDCT:86406008 NANDO:2200810 NCIt:C3108 SNOMEDCT:19030005 MEDGEN:5583 SCTID:86406008 NCIT:C3108 ICD9:042 SNOMEDCT:72621000119104 MONDO:0005109 MESH:D015658 ICD10:B24 UMLS:C0019693 MedDRA:10020161 DOID:526 ICD9:042-042.99 MeSH:D015658 ICD10CM:B20-B20" @@ -6488,7 +6454,6 @@ "RRID:CVCL_1577 BTO:0003013 CLO:0008103" "A white patch or plaque on the oral mucosa that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition." "NCIT:C3187 ICD9:528.6 UMLS:C0023532 MESH:D007972 MEDGEN:9738 SCTID:414603003 DOID:9655" "GARD:5898 DOID:0081337 UMLS:C0270960 DOID:0080100 MEDGEN:124381 OMIMPS:117000 icd11.foundation:1185572073 NANDO:2100234 Orphanet:97245 MedDRA:10062547 NANDO:1200477" - "An endocrine gland cancer located_in the pituitary gland located at the base of the brain." "NCIT:C4769 UMLS:C0496842 MEDGEN:96922 NCIt:C3330 DOID:1785 SCTID:363482009 MONDO:0002109" "Orphanet:295227 MEDGEN:1757455 icd11.foundation:1454955344 GARD:21224 UMLS:C5437776" "X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems." "UMLS:C2678048 GARD:17439 SCTID:766818009 MEDGEN:394718 DOID:0111833 OMIM:300703 Orphanet:314978 MESH:C567478" "An anterior projection of each cerebral hemisphere that is continuous anteriorly with the olfactory nerve;nA term applied to the olfactory apparatus on the lower surface of the frontal lobe of the brain. It consists of the olfactory bulb, tract, and trigone." "ZFA:0000402 EMAPA:17778 MAT:0000116 FMA:77624 SAEL:75 BTO:0001362 NCIt:C22619 EHDAA:5480 EV:0100173" @@ -6501,7 +6466,6 @@ "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the PFN1 gene." "OMIM:614808 DOID:0060209 GARD:15841 MEDGEN:766633 UMLS:C3553719" "A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the face, upper middle back, and sternal region. It is associated with adrenocortical steroid therapy or an increase in endogenous adrenocortical hormone." "UMLS:C1336506 MONDO:0006612 MEDGEN:234364 DOID:3925 NCIT:C27487" "An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery." "UMLS:C0034065 SNOMEDCT_US:59282003" - "A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax." "SCTID:56625005 MedDRA:10004984 ICD9:084.8 UMLS:C0005681 MEDGEN:2277 MeSH:D001742 MONDO:0005670 MESH:D001742 DOID:14068 NCIT:C34426" "Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive." "OMIM:251250 SCTID:715462003 MEDGEN:208663 MESH:C537325 Orphanet:2522 UMLS:C0796066 GARD:3610" "icd11.foundation:1964514438 Orphanet:295221" @@ -6578,7 +6542,6 @@ "A maleate salt that is the dimaleate salt of 4-(4-methylpiperazin-1-yl)-7-(trifluoromethyl)pyrrolo[1,2-a]quinoxaline. A 5-hydroxytryptamine receptor 1B (5-HT1B) full agonist, 10-fold selective over 5-HT1A and 1000-fold selective over 5-HT2C receptors. Centrally active following systemic administration." "ChemIDplus:109028-10-6 CAS:109028-10-6 MeSH:C052561" "Colletotrichum graminicola (teleomorph Glomerella graminicola) is a filamentous ascomycete that causes anthracnose disease of maize." "MEDGEN:1776945 UMLS:C5438980 icd11.foundation:1331627150 GARD:21220 Orphanet:295215" - "Sarcoidosis involves the skin in about 25% of patients. The most common lesions are erythema nodosum, plaques, maculopapular eruptions, subcutaneous nodules, and lupus pernio. Treatment is not required, since the lesions usually resolve spontaneously in two to four weeks. Although it may be disfiguring, cutaneous sarcoidosis rarely causes major problems." "UMLS:C0036203 ICD10CM:D86.3 DOID:13402 Wikipedia:Cutaneous_manifestations_of_sarcoidosis SCTID:55941000 NCIT:C34996 MONDO:0006611 MEDGEN:19872" "A multisubunit tethering complex of the CATCHR family (complexes associated with tethering containing helical rods) that has a role in tethering vesicles to the Golgi prior to fusion. Composed of 8 subunits COG1-8." @@ -6592,7 +6555,7 @@ "The determination of the amount of protein-tyrosine kinase 6 in a sample" "PMID:28240269" "The amount of a corrinoid adenosyltransferase MMAB when measured in blood serum." - "A triol with a structure of propane substituted at positions 1, 2 and 3 by hydroxy groups." "PDB:2AJS PMID:19548674 PMID:7392035 PMID:24643482 PMID:12689633 Gmelin:26279 PMID:17336832 PMID:6299616 UM-BBD_compID:c0066 PMID:14563847 PMID:16319039 PMID:15026783 LINCS:LSM-37180 PMID:16651733 PDBeChem:GOL PMID:7031247 Chemspider:733 Reaxys:635685 PMID:17439666 PMID:16901854 PMID:17979222 Beilstein:635685 DrugBank:DB04077 KEGG:D00028 PMID:19184438 PMID:16349488 PMID:22705534 PMID:19956799 Wikipedia:Glycerol FooDB:FDB000756 HMDB:HMDB0000131 PMID:25108762 PMID:19460032 PMID:19231894 PMID:12672239 PMID:15342117 Drug_Central:1316 KEGG:C00116 PPDB:1317 PMID:558160 PDB:2D03 PMID:12687625 PMID:16244855 PMID:11958517 CAS:56-81-5 PMID:14559393 PMID:16664750 MetaCyc:GLYCEROL PMID:16475911 PMID:15786693 PMID:23747440 PMID:24835191 ECMDB:ECMDB00131 PMID:16258193 PMID:11302662 PMID:19795216 PMID:11994365 PMID:15983192 PMID:23562176 KNApSAcK:C00001163 YMDB:YMDB00283 PMID:12713573" + "A triol with a structure of propane substituted at positions 1, 2 and 3 by hydroxy groups." "PDB:2AJS PMID:19548674 PMID:7392035 PMID:24643482 PMID:12689633 Gmelin:26279 PMID:17336832 PMID:6299616 UM-BBD_compID:c0066 PMID:14563847 PMID:16319039 PMID:15026783 LINCS:LSM-37180 PMID:16651733 PDBeChem:GOL PMID:7031247 Chemspider:733 Reaxys:635685 PMID:17439666 PMID:16901854 PMID:17979222 DrugBank:DB04077 KEGG:D00028 PMID:19184438 PMID:16349488 PMID:22705534 PMID:19956799 Wikipedia:Glycerol FooDB:FDB000756 HMDB:HMDB0000131 PMID:25108762 PMID:19460032 PMID:19231894 PMID:12672239 PMID:15342117 Drug_Central:1316 KEGG:C00116 PPDB:1317 PMID:558160 PDB:2D03 PMID:12687625 PMID:16244855 PMID:11958517 CAS:56-81-5 PMID:14559393 PMID:16664750 MetaCyc:GLYCEROL PMID:16475911 PMID:15786693 PMID:23747440 PMID:24835191 ECMDB:ECMDB00131 PMID:16258193 PMID:11302662 PMID:19795216 PMID:11994365 PMID:15983192 PMID:23562176 KNApSAcK:C00001163 YMDB:YMDB00283 PMID:12713573" "Tyrosine hydroxylase (TH) deficiency is an autosomal recessive disorder characterized by a spectrum of phenotypic features, based on severity and response to levodopa. It can be broadly categorized into TH-deficient dopa-responsive dystonia (mild, with dramatic and sustained response to levodopa), TH-deficiency infantile parkinsonism with motor delay (severe, with incomplete response to levodopa), and TH-deficiency infantile encephalopathy (very severe, with little to no response to levodopa)." "NANDO:2200595 NCIT:C157158 MEDGEN:1814581 UMLS:C5700309 icd11.foundation:247698609" "OMIM:615517 ICD10:E83.1" @@ -6615,10 +6578,9 @@ "Hypertension caused by the kidney's hormonal response to narrowing or occlusion of the renal arteries." "NANDO:2100016 ICD10:I12 DOID:1073 NANDO:2200141 SCTID:28119000 MONDO:0001105 UMLS:C0020544 MEDGEN:5700 MedDRA:10038464 MESH:D006977" "Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests." "UMLS:C3714796 SNOMEDCT_US:2109003" "A lysosomal glycogen storage disease characterized by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit." "Orphanet:34587 NORD:1033 ICD9:759.89 DOID:0050437 OMIM:300257 MeSH:D052120 SCTID:419097006 GARD:9730 MEDGEN:209235 DOID:50437 UMLS:C0878677 MESH:D052120 MONDO:0010281 NANDO:1200222 NCIt:C84735 NANDO:1200145 NCIT:C84735 icd11.foundation:1233188442" - "A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph." "MEDGEN:196643 DOID:1584 UMLS:C0742343 MeSH:D056586 SCTID:372146004 NCIT:C138179 MedDRA:10051895 MESH:D056586 ICD9:517.3 MONDO:0005632" "Multiple bent (flexed) finger joints that cannot be straightened actively or passively." "UMLS:C1393871" "NANDO:2200602 SCTID:398036000 MEDGEN:152875 OMIM:143890 UMLS:C0745103" - "An alpha-amino acid that is propanoic acid bearing an amino substituent at position 2 and a 1H-imidazol-4-yl group at position 3." "PMID:29286160 KEGG:C00768 Wikipedia:Histidine Reaxys:84087 PMID:17190852 CAS:4998-57-6 PMID:22770225 Beilstein:84087 KNApSAcK:C00001363 Gmelin:3656 PMID:22264337" + "An alpha-amino acid that is propanoic acid bearing an amino substituent at position 2 and a 1H-imidazol-4-yl group at position 3." "PMID:29286160 KEGG:C00768 Wikipedia:Histidine Reaxys:84087 PMID:17190852 CAS:4998-57-6 PMID:22770225 KNApSAcK:C00001363 Gmelin:3656 PMID:22264337" "A neoplastic sample derived from a primary tumor (not from a cancer metastasis)." "http://orcid.org/0000-0002-9903-4248" @@ -6987,7 +6949,6 @@ "An abnormality of the skin." "SNOMEDCT_US:95320005 UMLS:C0037268 ICD10:R23 UMLS:C0037274 SNOMEDCT_US:199879009" "Quantification of deoxyadenosine monophosphate in blood plasma." "KEGG COMPOUND:C00360 HMDB:0000905" - "A respiratory system infectious disease that involves inflammation, edema, and subsequent obstruction of the larynx, trachea, and bronchi. The disease is caused by viruses, bacteria, allergies and inhaled irritants. It is marked by episodes of difficult breathing and hoarse metallic cough in infants and young children. Croup is caused by parainfluenza virus (types 1 and 2), Influenza A and B viruses, Measles virus, adenovirus, respiratory syncytial virus, Staphylococcus and Streptococcus." "MONDO:0005722 MESH:D003440 ICD9:464.4 NCIT:C26735 MedDRA:10011415 MeSH:D003440 UMLS:C0010380 DOID:9395 SCTID:71186008 MEDGEN:3668" "quanitifcation of the itch intensity of a mosquito bite reaction, generally through the use of a standardised questionnaire" "PMID:28199695" "An EC 1.14.14.* (oxidoreductase acting on paired donors, incorporating of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor) inhibitor which interferes with the action of aromatase (EC 1.14.14.14) and so reduces production of estrogenic steroid hormones." "Wikipedia:Aromatase_inhibitor" "An aminonucleoside antibiotic, derived from the Streptomyces alboniger bacterium, that causes premature chain termination during translation taking place in the ribosome." "Reaxys:70234 KEGG:D05653 KEGG:C01610 Wikipedia:Puromycin PMID:13945541 CAS:53-79-2 DrugBank:DB08437 PMID:323854 NCIt:C787 PMID:15843471 LINCS:LSM-2788 KNApSAcK:C00001507 MeSH:D011691 PMID:18322149" @@ -7012,7 +6973,7 @@ "A syndromic intellectual disability disorder that is characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Most distinctive features are neurodevelopmental with invariably severely limited speech, cleft or high arched palate, dental anomalies (crowding, macrodontia, abnormal shape), and behavioral issues with or without bone or brain anomalies." "Orphanet:576278 GARD:22326" "A viral ear infection caused by the spread of varicella-zoster virus to the facial nerves. It is characterized by intense otalgia and a cutaneous vesicular eruption." "ICD10EXP:G53.0* UMLS:C0017409 MeSH:D016697 Orphanet:3020 NCIT:C84763 DOID:9210 ICD9:351.8 ICD9:053.11 MedDRA:10018141 MEDGEN:6581 SCTID:95670000 NORD:1647 MONDO:0005769 GARD:7525 ICD10EXP:B02.2+" "LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." "ICD10:Q81.8 OMIM:245660" - "A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland." "EFO:1000344 MONDO:0006284 NCIT:C5907 MEDGEN:235287 UMLS:C1334549" + "A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland." "EFO:1000344 MONDO:0006284 NCIT:C5907 UMLS:C1334549 MEDGEN:235287" "Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation)." "GARD:13774 DOID:0070067 MEDGEN:897984 OMIM:616364 UMLS:C4225351 Orphanet:468678" @@ -7049,7 +7010,6 @@ "The amount of a myb proto-oncogene protein when measured in blood serum." "The amount of a coiled-coil domain-containing protein 97 when measured in blood serum." "A teratoma that arises from the testis or ovary." "UMLS:C3273942 NCIT:C98291 EFO:1000282 MONDO:0006233 MEDGEN:475575" - "An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface." "MedDRA:10018201 NCIT:C84588 DOID:1455 MeSH:D005929 ICD10CM:K14.1 MONDO:0005771 ICD9:529.1 SCTID:59032001 UMLS:C0017677 MEDGEN:6619 icd11.foundation:1460387786" "The amount of a 1-O-(1Z-eicosenyl)-sn-glycero-3-phospho-1D-myo-inositol when measured in blood serum." "Quantification of the amount of fibroblast growth factor 21 in a sample" "PMID:32641083" @@ -7165,7 +7125,6 @@ "Catalysis of the reaction: 4 ATP + 2 phosphorylase b = 4 ADP + phosphorylase a." "EC:2.7.11.19 Reactome:R-HSA-71541 MetaCyc:2.7.11.19-RXN Reactome:R-HSA-453337 Reactome:R-HSA-71588" "Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas." "Orphanet:3110 UMLS:C1867147 GARD:0004738 OMIM:180730 MESH:C535870 SCTID:721904001 ICD10:L98.8" "Alpha thalassemia caused by variation in three of the four copies of the alpha hemoglobin genes (e.g., large deletion in HBA1 and HBA2 genes in trans with a variant in either HBA1 or HBA2)." "MedDRA:10063435 OMIM:613978 UMLS:C3161174 icd11.foundation:9436211 ICD9:282.49 MEDGEN:468531 DOID:0110031 GARD:16829 NCIT:C95504 Orphanet:93616 SCTID:48553001" - "A diffuse parenchymal lung disease caused by accumulation of inhaled CARBON or coal dust. The disease can progress from asymptomatic anthracosis to massive lung fibrosis. This lung lesion usually occurs in coal MINERS, but can be seen in urban dwellers and tobacco smokers." "SCTID:29422001 NCIt:C34390 MeSH:D055008 MedDRA:10073051 SNOMEDCT:29422001 MESH:D055008 UMLS:C0003165 DOID:10327 NCIT:C34390 MONDO:0006654 ICD9:500 ICD10:J60 MEDGEN:8107" @@ -7239,12 +7198,11 @@ "A non-neoplastic or neoplastic disorder that affects the pleura. Representative examples include pleural infection, pleural mesothelioma, and pleural solitary fibrous tumor." "MEDGEN:10804 ICD9:518.89 MESH:D010995 SCTID:88075009 DOID:1532 NCIT:C26859 UMLS:C0032226" "Inbred Strain." "TGEMO:00035 MGI:2165020" "DOID:0050387 OMIM:144700" - "A non-neoplastic polypoid swelling of the vocal cord mucosa. It is usually unilateral and caused by excessive use of the voice. [ NCIT ]" "icd11.foundation:1351291002 MEDGEN:21887 UMLS:C0042929 SCTID:9078005 NCIT:C3440 MONDO:0021420 MedDRA:10047675" + "A non-neoplastic polypoid swelling of the vocal cord mucosa. It is usually unilateral and caused by excessive use of the voice. [ NCIT ]" "icd11.foundation:1351291002 MEDGEN:21887 UMLS:C0042929 SCTID:9078005 MONDO:0021420 MedDRA:10047675 NCIT:C3440" "A sexually transmitted parasitic infection caused by Trichomonas vaginalis. Symptoms include vaginal discharge, vaginal odor, vaginal itching, and discomfort during intercourse." "ICD9:131.00 SCTID:35089004 DOID:0050269 MeSH:D014247 ICD9:131.09 MONDO:0005993 DOID:11943 MESH:D014247 NCIT:C35083 ICD10CM:A59.0" "SNOMEDCT:29576004" "The amount of a sex-determining region Y protein when measured in blood serum." - "A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)." "SCTID:83911000119104 MeSH:D009767 DOID:11981 NIFSTD:nlx_dys_20090303 ICD9:278.01 NCIt:C34858 MONDO:0005139 MEDGEN:18128 MedDRA:10027966 UMLS:C0028756 SNOMEDCT:238136002 MESH:D009767" "The amount of a SRA stem-loop-interacting RNA-binding protein, mitochondrial when measured in blood." "PMID:37794183" "A specimen-collecting procedure in which a needle or catheter is inserted into the peritoneal cavity to obtain ascitic fluid for diagnostic or therapeutic purposes. Ascitic fluid may be used to help determine the etiology of ascites, as well as to evaluate for infection or presence of cancer." @@ -7263,14 +7221,14 @@ "The amount of a cystic fibrosis transmembrane conductance regulator when measured in blood serum." "A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)." "ICD9:278.00 NIFSTD:nlx_dys_20090302 SCTID:414916001 MEDGEN:18127 NCIt:C3283 MONDO:0011122 DOID:9970 OMIM:601665 MedDRA:10029883 MeSH:D009765 HP:0001513 Orphanet:521399 SNOMEDCT:414916001 UMLS:C0028754 NCIT:C3283 MedDRA:10029885 ICD10:E66 ICD9:278.0" - "An alpha-tocopherol that has R,R,R configuration. The naturally occurring stereoisomer of alpha-tocopherol, it is found particularly in sunflower and olive oils." "PMID:31013594 PMID:19663978 PMID:28694484 PMID:20209471 PMID:23599266 SNOMEDCT:116776001 LIPID_MAPS_instance:LMPR02020001 Chemspider:14265 SNOMEDCT:37237003 KNApSAcK:C00007366 PMID:14657365 KEGG:C02477 Reaxys:94012 NCIt:C2832 Wikipedia:Alpha-Tocopherol MetaCyc:ALPHA-TOCOPHEROL PMID:16512933 PMID:17031012 PMID:19389964 PMID:33197771 PDBeChem:VIV PMID:21591326 PMID:17310859 PMID:11427352 DrugBank:DB00163 HMDB:HMDB0001893 Beilstein:94012 Drug_Central:4280 CAS:59-02-9 FooDB:FDB000565 PMID:12899840 Beilstein:5300493 MeSH:D014810" + "An alpha-tocopherol that has R,R,R configuration. The naturally occurring stereoisomer of alpha-tocopherol, it is found particularly in sunflower and olive oils." "PMID:31013594 PMID:19663978 PMID:28694484 PMID:20209471 PMID:23599266 SNOMEDCT:116776001 LIPID_MAPS_instance:LMPR02020001 Chemspider:14265 SNOMEDCT:37237003 KNApSAcK:C00007366 PMID:14657365 KEGG:C02477 Reaxys:94012 NCIt:C2832 Wikipedia:Alpha-Tocopherol MetaCyc:ALPHA-TOCOPHEROL PMID:16512933 PMID:17031012 PMID:19389964 PMID:33197771 PDBeChem:VIV PMID:21591326 PMID:17310859 PMID:11427352 DrugBank:DB00163 HMDB:HMDB0001893 Drug_Central:4280 CAS:59-02-9 FooDB:FDB000565 PMID:12899840 Beilstein:5300493 MeSH:D014810" "Autosomal dominant brachyolmia is a relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood." "SCTID:717264003 UMLS:C0432227 GARD:10429 MEDGEN:96583 OMIM:113500 Orphanet:93304" "Rapid whole-genome sequencing (STATseq)" "PMID:25937001" "Inbred Strain." "TGEMO:00052 MGI:2162087" "MESH:C564168 OMIM:144755 GARD:17753 HP:0005890 MEDGEN:327093 UMLS:C1840404 Orphanet:443098" "ICD10:G12.0 OMIM:253300" "Delayed psychomotor development and mild to severe intellectual disability. Common features include hypotonia, delayed walking, delayed speech, and behavioral abnormalities, including autistic features." "OMIM:617799 DOID:0080230" - "An indole-3-carboxylic acid carrying a carboxy group at position 3." "PDBeChem:ICO PMID:23116603 PMID:16664264 Beilstein:129435 HMDB:HMDB0003320 Gmelin:1875411 PMID:13905029 PMID:1262308 PMID:4844607 CAS:771-50-6 Reaxys:129435" + "An indole-3-carboxylic acid carrying a carboxy group at position 3." "PDBeChem:ICO PMID:23116603 PMID:16664264 HMDB:HMDB0003320 Gmelin:1875411 PMID:13905029 PMID:1262308 PMID:4844607 CAS:771-50-6 Reaxys:129435" "The amount of a ataxin-3 when measured in blood serum." "human plasmacytoma cell line from a 64 year old female patient (DSMZ catalog number ACC 583)" @@ -7402,7 +7360,7 @@ "Behavior-response patterns that characterize the individual." "MeSH:D010551 NCIt:C38002 SNOMEDCT:71565002" "Quantification of the amount of X-25420 in a sample." "PMID:35347128" - "Catalysis of the reaction: A C(21) steroid + [reduced NADPH--hemoprotein reductase] + O2 = a 21-hydroxy-C(21)-steroid + [oxidized NADPH--hemoprotein reductase] + H2O." "RHEA:65612 MetaCyc:STEROID-21-MONOOXYGENASE-RXN Reactome:R-HSA-193981 Reactome:R-HSA-5601976 EC:1.14.14.16 Reactome:R-HSA-193964" + "Catalysis of the reaction: A C(21) steroid + [reduced NADPH--hemoprotein reductase] + O2 = a 21-hydroxy-C(21)-steroid + [oxidized NADPH--hemoprotein reductase] + H2O." "RHEA:65612 MetaCyc:STEROID-21-MONOOXYGENASE-RXN Reactome:R-HSA-5601976 EC:1.14.14.16" "Quantification of CDGSH iron-sulfur domain-containing protein 2 in a sample." "PMID:29875488" "Quantification of the amount of 2-methylbutyroylcarnitine in a sample." "PMID:24816252" @@ -7467,7 +7425,7 @@ "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 42 carbons in total with 0 double bonds." "The amount of a Ras-related protein Rab-1B when measured in blood serum." "A highly aggressive carcinoma, histologically resembling small cell lung carcinoma. In most cases it is associated with carcinoma in situ." "ICD10:C67.8 ICD10:C67.6 GARD:11923 DOID:7132 ICD10:C67.4 ICD10:C67.2 ICD10:C67.9 MONDO:0004114 ICD10:C67.7 UMLS:C1332564 GARD:0011923 NCIT:C9461 ICD10:C67.0 MEDGEN:231950 ICD10:C67.5 ICD10:C67.3 UMLS:CN202866 EFO:1000129 ICD10:C67.1 ONCOTREE:SCBC Orphanet:284400" - "A 17alpha-hydroxy steroid that is the 17alpha-hydroxy derivative of progesterone." "PMID:25301938 PMID:4678211 PMID:5061166 PMID:5065810 PMID:518278 KEGG:C01176 MetaCyc:17-ALPHA-HYDROXYPROGESTERONE PMID:8496956 CAS:68-96-2 PMID:14999215 PMID:1167988 PMID:4628727 LIPID_MAPS_instance:LMST02030161 Beilstein:2062088 PMID:17066953 Reaxys:2062088 Wikipedia:Hydroxyprogesterone PMID:28539365 PMID:28980354 PMID:5571099 PMID:17128559 PDBeChem:3QZ PMID:17096820 PMID:15863951 KEGG:D08052 HMDB:HMDB0000374 PMID:9931518 PMID:19390483 PMID:4678212 PMID:72488 PMID:4339047 PMID:5098538 PMID:12915667 PMID:4343782 PMID:6632812 PMID:18573861 Wikipedia:17-Hydroxyprogesterone" + "A 17alpha-hydroxy steroid that is the 17alpha-hydroxy derivative of progesterone." "PMID:25301938 PMID:4678211 PMID:5061166 PMID:5065810 PMID:518278 KEGG:C01176 MetaCyc:17-ALPHA-HYDROXYPROGESTERONE PMID:8496956 CAS:68-96-2 PMID:14999215 PMID:1167988 PMID:4628727 LIPID_MAPS_instance:LMST02030161 PMID:17066953 Reaxys:2062088 Wikipedia:Hydroxyprogesterone PMID:28539365 PMID:28980354 PMID:5571099 PMID:17128559 PDBeChem:3QZ PMID:17096820 PMID:15863951 KEGG:D08052 HMDB:HMDB0000374 PMID:9931518 PMID:19390483 PMID:4678212 PMID:72488 PMID:4339047 PMID:5098538 PMID:12915667 PMID:4343782 PMID:6632812 PMID:18573861 Wikipedia:17-Hydroxyprogesterone" "The amount of a protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2 when measured in blood serum." "OMIM:619472 UMLS:C5561955 MEDGEN:1794165" "Quantification of docking protein 2 in a sample." "PMID:29875488" @@ -7631,7 +7589,7 @@ "Quantification of DNA-binding protein SATB2 in a sample." "PMID:29875488" "Quantification of sperm motility, measured as the percentage of motile sperm in ejaculated sperms ([number of motile sperm in the ejaculate]/[number of sperm in the ejaculate])×100." "PMID:29453196" - "A tertiary amine oxide resulting from the oxidation of the amino group of trimethylamine." "PMID:1453985 Gmelin:1839 Reaxys:1734787 PMID:19425246 CAS:1184-78-7 KEGG:C01104 PMID:3170512 PMID:17697669 PDBeChem:TMO PMID:3674879 HMDB:HMDB0000925 PMID:12683801 PMID:22770225 MetaCyc:TRIMENTHLAMINE-N-O Beilstein:1734787 Wikipedia:Trimethylamine_oxide" + "A tertiary amine oxide resulting from the oxidation of the amino group of trimethylamine." "PMID:1453985 Gmelin:1839 Reaxys:1734787 PMID:19425246 CAS:1184-78-7 KEGG:C01104 PMID:3170512 PMID:17697669 PDBeChem:TMO PMID:3674879 HMDB:HMDB0000925 PMID:12683801 PMID:22770225 MetaCyc:TRIMENTHLAMINE-N-O Wikipedia:Trimethylamine_oxide" "Quantification of sphingomyelin (d18:0/20:0, d16:0/22:0) in a sample." "UMLS:C0023138 MedDRA:10056710 MeSH:D007849 OMIM:245800 ICD10:Q87.8" "Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present." "MEDGEN:1641555 UMLS:C4551625 Orphanet:2387 SCTID:763792009 MESH:C535889 GARD:9759" @@ -8078,7 +8036,6 @@ "Quantification of polyethylene oxidized in blood plasma." "HMDB:0032472" "MEDGEN:1841075 UMLS:C5830439 OMIM:620331" - "Inflammation of the PERICARDIUM that is characterized by the fibrous scarring and adhesion of both serous layers, the VISCERAL PERICARDIUM and the PARIETAL PERICARDIUM leading to the loss of pericardial cavity. The thickened pericardium severely restricts cardiac filling. Clinical signs include FATIGUE, muscle wasting, and WEIGHT LOSS." "MedDRA:10010783 MeSH:D010494 NANDO:2100064 NANDO:2200239 MONDO:0006711 UMLS:C0031048 icd11.foundation:1722995229 HP:0002563 NCIT:C78246 ICD9:423.2 SNOMEDCT:85598007 MEDGEN:18378 DOID:11481 SCTID:85598007 NCIt:C78246 MESH:D010494" "Fin that is the most posterior median fin. It is composed of a complex of three modified centra and modified neural and hemal arches and spines." "ZFA:0001058" @@ -8108,7 +8065,6 @@ "A non-neoplastic or neoplastic disorder that affects the anal canal or anal margin. Representative examples of non-neoplastic disorders include hemorrhoids and anal ulcer. Representative examples of neoplastic disorders include carcinoma, lymphoma, and melanoma." "SCTID:32110003 MEDGEN:359 ICD10:K62 MONDO:0002519 MESH:D001004 UMLS:C0003462 NCIT:C26695 NCIt:C26695 DOID:3128" - "Tumors or cancer of the UVEA." "DOID:3479 MONDO:0002659 UMLS:C3665670 MeSH:D014604 NCIT:C6105 MEDGEN:1772018" "Orphanet:98141 icd11.foundation:599695253" "Enables the transfer of iron (Fe) ions from one side of a membrane to the other." "Reactome:R-HSA-5655733 Reactome:R-HSA-5623558 Reactome:R-HSA-904830 Reactome:R-HSA-917936 Reactome:R-HSA-435349" "UMLS:C0175703 OMIM:274000 MedDRA:10071719 ICD10:Q87.2" @@ -8154,7 +8110,6 @@ "Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise." "Orphanet:439897 GARD:17743 MEDGEN:864138 OMIM:616258 UMLS:C4015701" "Severe, intractable vomiting during pregnancy (usually the first trimester) accompanied by dehydration, weight loss, and electrolyte imbalances." "SNOMEDCT:14094001 MONDO:0006791 MeSH:D006939 MESH:D006939 SCTID:14094001 HP:0012188 MEDGEN:43776 MedDRA:10020614 DOID:9357 UMLS:C0020450 ICD10:O21 NCIt:C87084" "The amount of a angiomotin-like protein 2 when measured in blood." "PMID:37794183" - "A principal or polar form of LEPROSY in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (LEPROSY, LEPROMATOUS), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others." "UMLS:C0023351 ICD9:030.1 DOID:1025 SCTID:70143003 icd11.foundation:310697776 MeSH:D015441 MESH:D015441 ICD10CM:A30.1 MedDRA:10044729 MEDGEN:6050 MONDO:0005126 SNOMEDCT:70143003" "Chronic pain that is felt all over the body." "Quantification of the ratio of lysine to glutaroyl carnitine in a sample." "PMID:24816252" @@ -8233,13 +8188,12 @@ "A class of gastroenterological diseases involving the stomch and or esophagus." "UMLS:CN197468 Orphanet:101936" "The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls." "UMLS:C2132198 UMLS:C2220104 UMLS:C0241054" - "a chronic blockage of the sweat gland ducts with a secondary, non-bacterial inflammatory response to the secretions and cellular debris in the cysts. Hidradenitisis very similar, but tends to have a secondary bacterial infection so that pus-draining sinuses are formed." "UMLS:C0016632 DOID:1381 MONDO:0006553 NCIT:C84716 MEDGEN:42092 SCTID:65038009 Wikipedia:Fox-Fordyce_disease ICD10CM:L75.2 MESH:D005588 ICD9:705.82" "Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum." "UMLS:C4021791" "Quantification of the amount of X-11540 in a sample." "PMID:24816252" - "A monocarboxylic acid consisting of phenylacetic acid having a (2,6-dichlorophenyl)amino group at the 2-position." "Patent:NL6604752 PMID:11322639 PMID:1502708 DrugBank:DB00586 PDBeChem:DIF LINCS:LSM-2160 Beilstein:2146636 KEGG:C01690 PMID:27967303 NCIt:C28985 SNOMEDCT:7034005 CAS:15307-86-5 PMID:7838674 VSDB:1933 Reaxys:2146636 HMDB:HMDB0014724 Drug_Central:865 MeSH:D004008 Wikipedia:Diclofenac PMID:23777257 KEGG:D07816 Patent:US3558690" + "A monocarboxylic acid consisting of phenylacetic acid having a (2,6-dichlorophenyl)amino group at the 2-position." "Patent:NL6604752 PMID:11322639 PMID:1502708 DrugBank:DB00586 PDBeChem:DIF LINCS:LSM-2160 KEGG:C01690 PMID:27967303 NCIt:C28985 SNOMEDCT:7034005 CAS:15307-86-5 PMID:7838674 VSDB:1933 Reaxys:2146636 HMDB:HMDB0014724 Drug_Central:865 MeSH:D004008 Wikipedia:Diclofenac PMID:23777257 KEGG:D07816 Patent:US3558690" "The perception of facial expression" "DOID:0070454 OMIM:620323" "Adipose tissue that is located in the abdominal region. This includes any subcutaneous fat, visceral fat or encapsulated adipose tissue depots." "EFO:0003771 CALOHA:TS-0002" @@ -8317,7 +8271,6 @@ "An assay in which one or more metabolites are analysed." "Decreased density/number of eyebrow hairs." - "The chemical reactions and pathways by which individual cells transform chemical substances." "An umbrella term for diseases which have chronic muscle inflammation and weakness of unknown etiology. The types of idiopathic inflammatory myopathy are further defined by either clinicopathologic criteria or by the presence of certain autoantibodies." "ICD9:359.79 GARD:9128 Orphanet:98482 icd11.foundation:464294586" "CS57646 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158670&type=germplasm" "A spondyloepimetaphyseal dysplasia characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood." "GARD:10618 SCTID:719171005 Orphanet:93356 UMLS:C1865832 MEDGEN:355563 OMIM:602111 DOID:0080030 icd11.foundation:1593289281" @@ -8368,7 +8321,7 @@ "icd11.foundation:1161028858 OMIM:174810 UMLS:C0432292 DOID:0111542 MEDGEN:96593 SCTID:254153009 MESH:C536335 Orphanet:85195 ICD9:756.9 GARD:9168" "A skin hemangioma characterized by the presence of epidermal hyperplasia." "UMLS:C0334540 ICDO:9142/0 DOID:470 Orphanet:464318 MEDGEN:90802 GARD:21927 NCIT:C4299" "Quantification of the amount of 4-hydroxyglutamate in a sample." "PMID:35347128" - "An aminobenzoic acid that is benzoic acid having a single amino substituent located at position 2. It is a metabolite produced in L-tryptophan-kynurenine pathway in the central nervous system." "PMID:11680877 CAS:118-92-3 PMID:28166217 PDBeChem:BE2 MetaCyc:ANTHRANILATE Wikipedia:Anthranilic_acid DrugBank:DB04166 PMID:22784643 PMID:20511543 KNApSAcK:C00007382 PMID:9784247 Beilstein:471803 PMID:22321994 HMDB:HMDB0001123 PMID:19745702 PMID:22341575 Reaxys:471803 Gmelin:3397 KEGG:C00108" + "An aminobenzoic acid that is benzoic acid having a single amino substituent located at position 2. It is a metabolite produced in L-tryptophan-kynurenine pathway in the central nervous system." "PMID:11680877 CAS:118-92-3 PMID:28166217 PDBeChem:BE2 MetaCyc:ANTHRANILATE Wikipedia:Anthranilic_acid DrugBank:DB04166 PMID:22784643 PMID:20511543 KNApSAcK:C00007382 PMID:9784247 PMID:22321994 HMDB:HMDB0001123 PMID:19745702 PMID:22341575 Reaxys:471803 Gmelin:3397 KEGG:C00108" "UMLS:C5676962 MEDGEN:1809945 OMIM:619828 DOID:0070569" "MEDGEN:233658 DOID:7639 UMLS:C1334575 NCIT:C5614" @@ -8384,7 +8337,7 @@ "OMIM:618048 GARD:18447 UMLS:C4747989 DOID:0060914 MEDGEN:1648482" - "The 17beta-isomer of estradiol." "PMID:14681337 KEGG:D00105 PMID:10585175 PMID:11703424 Wikipedia:Estradiol PMID:17124377 KEGG:C00951 Drug_Central:1057 LIPID_MAPS_instance:LMST02010001 DrugBank:DB00783 CAS:50-28-2 LINCS:LSM-2421 PMID:8098802 PMID:10438974 PMID:24449492 PMID:24134630 Reaxys:1914275 PMID:10843196 PDBeChem:EST PMID:8567793 Beilstein:1914275 PMID:16313478 HMDB:HMDB0000151 Gmelin:290805 PMID:3621671 PMID:1777462 PMID:23901460 Chemspider:5554" + "The 17beta-isomer of estradiol." "PMID:14681337 KEGG:D00105 PMID:10585175 PMID:11703424 Wikipedia:Estradiol PMID:17124377 KEGG:C00951 Drug_Central:1057 LIPID_MAPS_instance:LMST02010001 DrugBank:DB00783 CAS:50-28-2 LINCS:LSM-2421 PMID:8098802 PMID:10438974 PMID:24449492 PMID:24134630 Reaxys:1914275 PMID:10843196 PDBeChem:EST PMID:8567793 PMID:16313478 HMDB:HMDB0000151 Gmelin:290805 PMID:3621671 PMID:1777462 PMID:23901460 Chemspider:5554" "MeSH:C538076 OMIM:169100 UMLS:C1868570 ICD10:Q87.8" "Systemic mastocytosis (SM) comprises a heterogeneous group of rare acquired and chronic hematological malignancies that are related to an abnormal proliferation of mast cells in tissue, including bone marrow, with or without skin involvement." "icd11.foundation:1144812971 SCTID:397016004 NCIT:C9235 Orphanet:2467 GARD:8616 MEDGEN:67436 UMLS:C0221013 ONCOTREE:SM DOID:349 MedDRA:10042949" "A neoplasm composed of spindle to ovoid cells which have morphologic and immunophenotypic characteristics of follicular dendritic cells. It affects lymph nodes and other sites including the tonsils, gastrointestinal tract, spleen, liver, soft tissues, skin, and oral cavity. It usually behaves as a low grade sarcoma. Treatment options include complete surgical removal of the tumor with or without adjuvant chemotherapy or radiotherapy. Recurrences have been reported in up to half of the cases." "NANDO:2200034 MESH:D054740 ICD10:C96.4 DOID:6262 MONDO:0005764 ICDO:9758/1 Orphanet:86902 EFO:0007276 MEDGEN:220355 NCIT:C9281 ICDO:9758/3 GARD:19081 UMLS:C1260325 icd11.foundation:149373156 icd11.foundation:15445528 ONCOTREE:FDCS" @@ -8406,12 +8359,12 @@ "A body tissue consisting of long cells that contract when stimulated and produce motion." "BTO:0000887" "Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." "SCTID:49601007 MONDO:0004995 MEDGEN:2848 MESH:D002318 ICD9:424 NCIT:C2931 ICD9:429.7 ICD9:429 SNOMEDCT:49601007 ICD10:I99 MedDRA:10007648 ICD9:459.9 UMLS:C0007222 ICD9:429.81 SNOMEDCT:105980002 ICD9:423 ICD9:429.2 ICD9:459.89 ICD9:390-459.99 ICD10:I98 NCIt:C2931 ICD9:420-429.99 MeSH:D002318 NANDO:1100005 ICD9:423.8 ICD9:429.8 DOID:1287 ICD9:429.89" - "Any of the ducts that form the biliary tree, carrying bile from the liver to the small intestine." "MA:0000354 NCIT:C12376 MESH:D001652 GAID:280 XAO:0000134 Wikipedia:Bile_duct BTO:0000122 SCTID:276157007 ZFA:0001100 EMAPA:35171 CALOHA:TS-0075 AAO:0011019 VHOG:0000212 EV:0100091 TAO:0001100 UMLS:C0005400 FMA:9706" + "Any of the ducts that form the biliary tree, carrying bile from the liver to the small intestine." "MA:0000354 NCIT:C12376 MESH:D001652 GAID:280 XAO:0000134 Wikipedia:Bile_duct SCTID:276157007 BTO:0000122 ZFA:0001100 EMAPA:35171 CALOHA:TS-0075 AAO:0011019 VHOG:0000212 EV:0100091 TAO:0001100 UMLS:C0005400 FMA:9706" "The time period elapsed since an identifiable point in the life cycle of an organism. If a developmental stage is specified, the identifiable point would be the beginning of that stage." "ICD10:Q10.3 OMIM:167730 UMLS:C1868660" - "The N-acetyl derivative of beta-alanine." "Gmelin:1317687 CAS:3025-95-4 MetaCyc:CPD-580 Reaxys:1704093 Beilstein:1704093 KEGG:C01073" + "The N-acetyl derivative of beta-alanine." "Gmelin:1317687 CAS:3025-95-4 MetaCyc:CPD-580 Reaxys:1704093 KEGG:C01073" "A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it." "NCIt:C12749 Wikipedia:Transmembrane_protein Wikipedia:Biological_membrane" "Quantification of free cholesterol to total lipids in medium HDL." "Is a quantification of thyroid-stimulating hormone, a glycoprotein and hormone secreted from the pituitary which regulates the thryoid." "NCIt:C64813 SNOMEDCT:61167004" @@ -8510,7 +8463,6 @@ "Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare, multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (i.e. sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970." "Orphanet:1548 UMLS:C4707233 MEDGEN:1647147 GARD:860" "A neoplastic proliferation of basal cells in the epidermis (part of the skin) or other anatomic sites (most frequently the salivary glands). The basal cell neoplastic proliferation in the epidermis results in basal cell carcinomas. The basal cell neoplastic proliferation in the salivary glands can be benign, resulting in basal cell adenomas or malignant, resulting in basal cell adenocarcinomas." "UMLS:C0206710 MONDO:0020799 ICDO:8090/1 MEDGEN:104921 NCIT:C3784 SCTID:127570002 MESH:D018295" - "A condition marked by raised intracranial pressure and characterized clinically by HEADACHES; NAUSEA; PAPILLEDEMA, peripheral constriction of the visual fields, transient visual obscurations, and pulsatile TINNITUS. OBESITY is frequently associated with this condition, which primarily affects women between 20 and 44 years of age. Chronic PAPILLEDEMA may lead to optic nerve injury (see OPTIC NERVE DISEASES) and visual loss (see BLINDNESS)." "ICD9:348.2 MEDGEN:18732 MedDRA:10037149 GARD:4561 UMLS:C0033845 DOID:11459 MESH:D011559 NCIt:C85035 NCIT:C85035 Orphanet:238624 OMIM:243200 NORD:1294 MONDO:0009468 MeSH:D011559 SCTID:68267002" "Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis." "icd11.foundation:588435239 GARD:4610 OMIM:265880 MEDGEN:337844 UMLS:C1849523 Orphanet:3003 SCTID:719258003 MESH:C536251" "OMIM:600268" "MEDGEN:1809253 UMLS:C5676931 OMIM:619775" @@ -8578,7 +8530,6 @@ "Area of the parietal lobe concerned with receiving general sensations. It lies posterior to the central sulcus." "BTO:0004353 GAID:681 EFO:0001391 MBA:453 FMA:242642 SCTID:279252006 BAMS:SS MESH:D013003 neuronames:3241" "MEDGEN:1741594 icd11.foundation:3040646 Orphanet:295177 UMLS:C5437916" "Quantification of the amount of ATP synthase subunit O; mitochondrial measurement in a sample." "PMID:36168886" - "Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with ATHEROSCLEROSIS of the aorta and may result from dissection of an AORTIC ANEURYSM or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50)" "MeSH:D020759 MONDO:0006650 UMLS:C0221069 DOID:6712 ICD9:433.80 SNOMEDCT:14363008 MedDRA:10002703 SCTID:2972007 MEDGEN:65125 MESH:D020759" "The amount of a guanylate-binding protein 1 when measured in blood serum." "An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB)." "MESH:C535334 Orphanet:918 UMLS:C1838099 MEDGEN:333014 DOID:0050600 OMIM:600501" @@ -8688,7 +8639,6 @@ "A thickened white patch on the oral mucosa that cannot be rubbed off." "SNOMEDCT:50978000 SNOMEDCT_US:9187004 UMLS:C0023532 MeSH:D007972 SNOMEDCT_US:414603003 UMLS:C1704317" "The determination of the amount of ligand-dependent nuclear receptor corepressor-like protein in a sample" "PMID:28240269" - "Rare chronic inflammatory disease involving the small blood vessels. It is of unknown etiology and characterized by mucocutaneous ulceration in the mouth and genital region and uveitis with hypopyon. The neuro-ocular form may cause blindness and death. SYNOVITIS; THROMBOPHLEBITIS; gastrointestinal ulcerations; RETINAL VASCULITIS; and OPTIC ATROPHY may occur as well." "NCIt:C34416 UMLS:C0004943 NCIT:C34416 SCTID:310701003 MedDRA:10004213 NANDO:1200284 SNOMEDCT:310701003 MEDGEN:2568 OMIM:109650 NANDO:2200422 icd11.foundation:1668927157 MeSH:D001528 GARD:848 DOID:13241 MESH:D001528 ICD9:136.1 Orphanet:117 MONDO:0007191" "The quantification of sphingomyelin 24:1 levels in a sample." "PMID:23823483" "Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." "ICD10:G11.3 OMIM:208920" "Is a quantification of tissue plasminogen activator, an enzyme which converts the abundant, but inactive, zymogen plasminogen to plasmin by hydrolyzing a single Arg-Val bond in plasminogen. By controlling plasmin-mediated proteolysis, it plays an important role in tissue remodeling and degradation, in cell migration and many other physiopathological events. Play a direct role in facilitating neuronal migration." @@ -8792,7 +8742,7 @@ "Necrosis of the myocardium, as a result of interruption of the blood supply to the area. It is characterized by a severe and rapid onset of symptoms that may include chest pain, often radiating to the left arm and left side of the neck, dyspnea, sweating, and palpitations. [ NCI ]" "MedDRA:10000916 MedDRA:10000926 NCIt:C35204 ICD9:410.80 NCIT:C35204 MedDRA:10000923 MedDRA:10000913 MedDRA:10000893 MedDRA:10000917 MedDRA:10000903 MedDRA:10000910 MedDRA:10000920 MedDRA:10000907 MEDGEN:57611 MedDRA:10000927 ICD9:410.91 MedDRA:10000897 MedDRA:10000898 MedDRA:10000930 MedDRA:10000894 MedDRA:10000900 MedDRA:10000931 MedDRA:10000918 MedDRA:10000928 ICD9:410.81 MedDRA:10000914 MedDRA:10000924 MedDRA:10000921 ICD9:410 MedDRA:10000911 MedDRA:10000891 MedDRA:10000908 ICD9:410.92 MedDRA:10000904 MedDRA:10066641 DOID:9408 MedDRA:10000901 MedDRA:10000899 ICD9:410.82 MedDRA:10000925 MedDRA:10000915 MedDRA:10000895 MONDO:0004781 MedDRA:10000929 ICD10CM:I21.9 MedDRA:10000919 ICD9:410.9 MedDRA:10000892 ICD10:I21 MedDRA:10000905 MedDRA:10000912 MedDRA:10000922 MedDRA:10000909 MedDRA:10000906 icd11.foundation:1334938734 UMLS:C0155626 ICD9:410.90 MedDRA:10000896 MedDRA:10000902 SCTID:57054005" "\nSubset of helper-inducer T-lymphocytes which synthesize and secrete the interleukins IL-4, IL-5, IL-6, and IL-10. These cytokines influence B-cell development and antibody production as well as augmenting humoral responses.\n" - "A monocyclic heteroarene with a structure consisting of a 5-membered ring containing three carbon atoms and an oxygen and nitrogen atom adjacent to each other. It is the parent of the class of isoxazoles." "Beilstein:103773 Gmelin:1041679 Reaxys:103773 CAS:288-14-2 Wikipedia:Isoxazole" + "A monocyclic heteroarene with a structure consisting of a 5-membered ring containing three carbon atoms and an oxygen and nitrogen atom adjacent to each other. It is the parent of the class of isoxazoles." "Gmelin:1041679 Reaxys:103773 CAS:288-14-2 Wikipedia:Isoxazole" "RRID:CVCL_1697 BTO:0004216 CLO:0009031" "Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism." "NANDO:2200534 UMLS:C0751161 SCTID:8849004 OMIM:230350 MEDGEN:199598 Orphanet:79238 DOID:0111458 GARD:5392" "The amount of a testis-specific chromodomain protein Y 1 when measured in blood serum." @@ -8861,7 +8811,7 @@ "MEDGEN:1842526 icd11.foundation:2123428798 Orphanet:295201 GARD:21217 UMLS:C5681089" "A failure to collect oocytes after an apparently normal controlled ovarian hyperstimulation cycle for in vitro fertilization." "Quantification of the amount of 1-(1-enyl-stearoyl)-2-arachidonoyl-GPE (P-18:0/20:4) in a sample." "PMID:35347128" - "A purine ribonucleoside 5'-monophosphate having adenine as the nucleobase." "Drug_Central:92 Wikipedia:Adenylic_acid KEGG:C00020 PMID:16091942 PMID:11307758 COMe:MOL000174 LINCS:LSM-5914 PMID:2559771 PMID:15946677 PMID:16250233 Reaxys:54612 DrugBank:DB00131 PMID:22215671 Beilstein:54612 MetaCyc:AMP PMID:17439666 PMID:12181610 Gmelin:38561 PMID:15148540 CAS:61-19-8 HMDB:HMDB0000045 KEGG:D02769 KNApSAcK:C00019347 PDBeChem:AMP PMID:16295522 PMID:22624049 PMID:12020809" + "A purine ribonucleoside 5'-monophosphate having adenine as the nucleobase." "Drug_Central:92 Wikipedia:Adenylic_acid KEGG:C00020 PMID:16091942 PMID:11307758 COMe:MOL000174 LINCS:LSM-5914 PMID:2559771 PMID:15946677 PMID:16250233 Reaxys:54612 DrugBank:DB00131 PMID:22215671 MetaCyc:AMP PMID:17439666 PMID:12181610 Gmelin:38561 PMID:15148540 CAS:61-19-8 HMDB:HMDB0000045 KEGG:D02769 KNApSAcK:C00019347 PDBeChem:AMP PMID:16295522 PMID:22624049 PMID:12020809" "Non-heritable difficulty in distinguishing colors." "SCTID:71676008 ICD10CM:H53.52 DOID:13912 MEDGEN:57828 NCIT:C118712 UMLS:C0155018 ICD9:368.55" "This syndrome is characterized by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria." "MEDGEN:377572 SCTID:720598005 GARD:16739 MESH:C565089 Orphanet:85192 DOID:0080721 UMLS:C1852022 OMIM:126550" @@ -8880,7 +8830,7 @@ "NCI Metathesaurus: C0037658" "OMIM:300835 ICD10:D64.4" - "Enables the transfer of riboflavin from one side of a membrane to the other. Riboflavin (vitamin B2) is a water-soluble B-complex vitamin, converted in the cell to FMN and FAD, cofactors required for the function of flavoproteins." "Reactome:R-HSA-3165230 RHEA:35015" + "Enables the transfer of riboflavin from one side of a membrane to the other. Riboflavin (vitamin B2) is a water-soluble B-complex vitamin, converted in the cell to FMN and FAD, cofactors required for the function of flavoproteins." "Reactome:R-HSA-3165230" "The amount of a protein kinase C-binding protein NELL1 when measured in blood serum." "Anatomical system that consists of the glands and parts of glands that produce endocrine secretions and help to integrate and control bodily metabolic activity." "MA:0000012 GAID:439 EFO:0002969 TAO:0001158 FMA:9668 Wikipedia:Endocrine_system UMLS:C0014136 FBbt:00005068 NCIT:C12705 AAO:0010279 VHOG:0000098 XAO:0000158 MESH:D004703 EMAPA:35306 SCTID:278876000 ZFA:0001158 CALOHA:TS-1301 EHDAA2:0002224 EV:0100128" "MN1 is a cholinergic motor neuron cell line derived from a fusion of N18TG2 with embryonic mouse spinal cord motor neurons (clone 2F1.10.14.7)" @@ -8888,7 +8838,7 @@ "UMLS:C1839129 OMIM:314300 MeSH:C536970 ICD10:Q87.8" "Clinical manifestations that can be either objective when observed by a physician, or subjective when perceived by the patient." "MeSH:D012816 NCIt:C100104 NCIt:C3367 ICD10:R68" "Catalysis of the reaction: methanethiol + O2 + H2O = formaldehyde + hydrogen sulfide + hydrogen peroxide." "UM-BBD_reactionID:r0209 EC:1.8.3.4 RHEA:11812 MetaCyc:METHANETHIOL-OXIDASE-RXN" - "A complication of rheumatic disease that is caused by excessive activation and uncontrolled proliferation of T lymphocytes and well-differentiated macrophages. It is characterized by fever, pancytopenia, liver insufficiency, coagulopathy and neurologic symptoms." "SCTID:430478003 Orphanet:158061 SNOMEDCT:430478003 MEDGEN:242753 ORDO:Orphanet_158061 MedDRA:10053867 NCIt:C114471 NCIT:C114471 MONDO:0015545 MeSH:D055501 GARD:12124 UMLS:C1096155 MESH:D055501" + "A complication of rheumatic disease that is caused by excessive activation and uncontrolled proliferation of T lymphocytes and well-differentiated macrophages. It is characterized by fever, pancytopenia, liver insufficiency, coagulopathy and neurologic symptoms." "Orphanet:158061 SCTID:430478003 GARD:12124 MONDO:0015545 MeSH:D055501 SNOMEDCT:430478003 UMLS:C1096155 NCIt:C114471 MEDGEN:242753 ORDO:Orphanet_158061 MESH:D055501 NCIT:C114471 MedDRA:10053867" "The amount of a netrin receptor UNC5B when measured in blood serum." "The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech." "OMIM:613509 ICD10:Q93.5" "Orphanet:102012 NANDO:1200053 UMLS:C0393555 MEDGEN:581445 GARD:19822 SCTID:230260007" @@ -8962,7 +8912,6 @@ "human stomach adenocarcinoma cell line from a 63 year old Japanese male with moderately differentiated adenocarcinoma of stomach" "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrofurantoin stimulus. Nitrofurantoin is an antibiotic used to treat bladder infections." "ZFA:0001302" - "Infections with bacteria of the genus STREPTOCOCCUS." "UMLS:C0038395 NCIT:C87062 MedDRA:10061372 SCTID:85769006 MONDO:0021680 MESH:D013290 ICD9:041.09 ICD9:041.00 Wikipedia:Streptococcus MeSH:D013290 MEDGEN:20963" "A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective)." "UMLS:C1848673" "Is a quantification of any of the alpha globulin class of proteins, typically in serum." @@ -9114,7 +9063,6 @@ "The amount of a succinate-semialdehyde dehydrogenase, mitochondrial when measured in blood serum." "NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" - "Benign and malignant intra-axial tumors of the MESENCEPHALON; PONS; or MEDULLA OBLONGATA of the BRAIN STEM. Primary and metastatic neoplasms may occur in this location. Clinical features include ATAXIA, cranial neuropathies (see CRANIAL NERVE DISEASES), NAUSEA, hemiparesis (see HEMIPLEGIA), and quadriparesis. Primary brain stem neoplasms are more frequent in children. Histologic subtypes include GLIOMA; HEMANGIOBLASTOMA; GANGLIOGLIOMA; and EPENDYMOMA." "MeSH:D020295 MONDO:0021228 UMLS:C0677866 MEDGEN:146207 SNOMEDCT:126961004 Orphanet:36414 NCIt:C4869 NCIT:C4869" "The amount of a netrin receptor DCC when measured in blood serum." "Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae." "SNOMEDCT_US:249321001 UMLS:C0426421" "A thick plate of cells derived from the neural ectoderm in the head region of the embryo that develops into the olfactory region of the nasal cavity." "EMAPA:16543 ZFA:0000048 Wikipedia:Nasal_placode AAO:0011076 EFO:0003420 XAO:0000005 EHDAA2:0001232 FMA:293971 TAO:0000048 VHOG:0000186 EHDAA:1504 BTO:0006222" @@ -9156,7 +9104,6 @@ "Gr1-high monocyte that has a MHC-II receptor complex." "A self-limited viral infectious disorder caused by the human parvovirus B19. It affects predominantly children and is characterized by the development of a bright red skin eruption in the cheeks. It is followed by a maculopapular skin eruption in the extremities which eventually fades into a lacey pattern." "MONDO:0006544 NCIT:C84695 SCTID:34730008 UMLS:C0085273 MedDRA:10015214 MEDGEN:43142 icd11.foundation:352375140 DOID:8743 MESH:D016731 ICD9:057.0" - "The formation of soft patches on the mucous membrane of a hollow organ, such as the urogenital tract or digestive tract." "SCTID:716766007 MeSH:D008287 UMLS:C0024525 SNOMEDCT:50707001 MedDRA:10080344 GARD:6960 MEDGEN:44257 MONDO:0018913 MedDRA:10058484 Orphanet:556 NCIT:C84833 MESH:D008287" "MEDGEN:1842874 GARD:19438 Orphanet:98260 UMLS:C5681525" "A squamous cell carcinoma characterized by the presence of cells with hyperchromatic nuclei, scant amount of cytoplasm, and peripheral nuclear palisading." "MEDGEN:266085 DOID:5522 icd11.foundation:1738201981 UMLS:C1266005 NCIT:C54244 ICDO:8083/3 MONDO:0003486" @@ -9226,7 +9173,6 @@ - "A form of pneumoconiosis caused by inhalation of dust that contains both CARBON and crystalline SILICON DIOXIDE. These foreign matters induce fibrous nodule formation in the lung." "MeSH:D000874 NCIT:C34389 SNOMEDCT:33548005 NCIt:C34389 DOID:10324 UMLS:C0003164 SCTID:33548005 CSP:2596-4484 MedDRA:10050363 MEDGEN:1958 MESH:D000874 MONDO:0006653" "A very rare breast adenocarcinoma with sebaceous differentiation." "UMLS:C1519207 DOID:5760 MEDGEN:276789 NCIT:C40369" "Quantification of ribonucleoside-diphosphate reductase subunit M2 B in a sample." "PMID:29875488" @@ -9270,7 +9216,6 @@ "A form of hypertension with early onset relative to normal range for a given population." "MONDO:0005430" - "Chronic or recurrent gastrointestinal disorders without an identifiable structural or biochemical explanation by the routine diagnostic tests. Functional gastrointestinal disorders are classified according to the presumed site of the disorder, such as IRRITABLE BOWEL SYNDROME, non-ulcer DYSPEPSIA, and non-cardiac CHEST PAIN." "MEDGEN:892790 ICD9:569.49 MESH:D005767 ICD9:570-579.99 ICD10CM:K00-K95 NCIT:C2990 ICD9:569 UMLS:C4023588 DOID:5295 ICD9:575 ICD9:V47.3 ICD9:520-579.99 ICD10:K91 MeSH:D005767 DOID:77 SCTID:53619000 ICD9:569.4 ICD9:564 MeSH:D007410 NANDO:1100013 MONDO:0004335 ICD9:560-569.99 ICD10:K31 SNOMEDCT:53619000 ICD10:K92 ICD9:564.4 MeSH:D004066" "quantification of the amount of the clusterin in a sample of blood plasma" "A non-mucous, epithelial secretory cell that is part of the tracheobronchial tree. A club cell has short microvilli but no cilia. A club cell is able to multiply and differentiate into ciliated cells to regenerate the bronchiolar epithelium and it also protects the tracheobronchial epithelium." "BTO:0004811 FMA:14119" "Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia." "UMLS:C0472777 Orphanet:231249 MEDGEN:632783 GARD:20609" @@ -9387,7 +9332,6 @@ "A chronic, recurrent, pruritic inflammatory disorder of unknown etiology that affects the skin and mucus membranes. It presents with rashes and papules that tend to resolve spontaneously. It may be associated with hepatitis C. Certain drugs that contain arsenic or bismuth are associated with reactions mimicking lichen planus." "ICD9:697.0 DOID:9201 MONDO:0006572 SCTID:4776004 ICD10:L43 UMLS:C0023646 NCIT:C3189 MedDRA:10024429 MEDGEN:9753 ICD10CM:L43 icd11.foundation:1402978031 MESH:D008010" "19p13.13 microdeletion syndrome is a rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation)." "UMLS:C3150894 OMIM:613638 GARD:17542 DOID:0060426 MEDGEN:462244 SCTID:764440006 Orphanet:357001" "Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredictable course with spontaneous remission occurring in some and recurrence of attacks in others." "DOID:1278 NCIT:C85193 NORD:1774 Orphanet:64686 MedDRA:10051526 SCTID:95794005 GARD:7777 MESH:D020333 icd11.foundation:969826782 MEDGEN:21197 UMLS:C0040381" - "Diseases in any part of the GASTROINTESTINAL TRACT or the accessory organs (LIVER; BILIARY TRACT; PANCREAS)." "MEDGEN:892790 ICD9:569.49 MESH:D005767 ICD9:570-579.99 ICD10CM:K00-K95 NCIT:C2990 ICD9:569 UMLS:C4023588 DOID:5295 ICD9:575 ICD9:V47.3 ICD9:520-579.99 ICD10:K91 MeSH:D005767 DOID:77 SCTID:53619000 ICD9:569.4 ICD9:564 MeSH:D007410 NANDO:1100013 MONDO:0004335 ICD9:560-569.99 ICD10:K31 SNOMEDCT:53619000 ICD10:K92 ICD9:564.4 MeSH:D004066" "A speech disorder characterized by frequent sound or syllable repetitions, sound prolongations, or other dysfluencies that are inappropriate for the individual's age." "DOID:0060243 UMLS:C0038131 MEDGEN:20932 NCIT:C35043 OMIMPS:184450" "The determination of the amount of tartrate-resistant acid phosphatase type 5 in a sample" "PMID:28240269" @@ -9428,7 +9372,7 @@ "The presence of an abnormally short lingual frenulum." "SNOMEDCT_US:249388005 UMLS:C0426501 UMLS:C4280673" "Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM)." "Orphanet:99898 MESH:C535530" "OMIM:619787 UMLS:C2608084 MEDGEN:382015" - "A 3',5'-cyclic purine nucleotide having having adenine as the nucleobase." "Beilstein:52645 PMID:16295522 CAS:60-92-4 KEGG:C00575 PMID:22770225 DrugBank:DB02527 PDBeChem:CMP Wikipedia:Cyclic_AMP HMDB:HMDB0000058 KNApSAcK:C00001497 PMID:18372334 Reaxys:52645 MetaCyc:CAMP" + "A 3',5'-cyclic purine nucleotide having having adenine as the nucleobase." "PMID:16295522 CAS:60-92-4 KEGG:C00575 PMID:22770225 DrugBank:DB02527 PDBeChem:CMP Wikipedia:Cyclic_AMP HMDB:HMDB0000058 KNApSAcK:C00001497 PMID:18372334 Reaxys:52645 MetaCyc:CAMP" "A pineoblastoma occurring in adults." "NCIT:C8292 UMLS:C0281332 MEDGEN:83794 DOID:6648" "SNOMEDCT:86096008" @@ -9468,7 +9412,7 @@ "Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay." "DOID:0080543 SCTID:717181004 MedDRA:10058512 MESH:C538385 Orphanet:79101 MEDGEN:419175 MedDRA:10058514 UMLS:C2931835 GARD:6710 OMIM:239510" "An autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc)." "MEDGEN:450547 Orphanet:779 OMIM:613471 GARD:4697 SCTID:715401008 icd11.foundation:1409844299 UMLS:C0748397" "A T cell that has not completed T cell selection." "CALOHA:TS-1042 BTO:0001372" - "An alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane." "MetaCyc:CPD0-1264 KNApSAcK:C00001204 HMDB:HMDB0000893 KEGG:C08278 Reaxys:1210161 LIPID_MAPS_instance:LMFA01170001 Beilstein:1210161 PMID:22770225 PDBeChem:OCE CAS:505-48-6 Wikipedia:Suberic_acid" + "An alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane." "MetaCyc:CPD0-1264 KNApSAcK:C00001204 HMDB:HMDB0000893 KEGG:C08278 Reaxys:1210161 LIPID_MAPS_instance:LMFA01170001 PMID:22770225 PDBeChem:OCE CAS:505-48-6 Wikipedia:Suberic_acid" "OMIMPS:239300 MEDGEN:383800 Orphanet:247262 UMLS:C1855923 DOID:0070431 GARD:17188 SCTID:33982008" "Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline." "MedDRA:10054030 NORD:143373 DOID:3534 NANDO:2200881 Orphanet:501 MEDGEN:155631 MESH:D020192 GARD:8214 NANDO:1200955 NCIT:C84804 OMIMPS:254780 SCTID:230425004 UMLS:C0751783" @@ -9485,7 +9429,7 @@ "Quantification of the amount of 2-hydroxyacetaminophen sulfate in a sample." "PMID:24816252" "OMIM:614105 ICD10:E71.1" - "A thiocarboxamide that is pyridine-4-carbothioamide substituted by an ethyl group at position 2. A prodrug that undergoes metabolic activation by conversion to the corresponding S-oxide." "PMID:14651620 Reaxys:116474 PMID:15673755 KEGG:C07665 Beilstein:116474 Patent:GB800250 LINCS:LSM-5620 HMDB:HMDB0014747 KEGG:D00591 Wikipedia:Ethionamide CAS:536-33-4 Drug_Central:1083 DrugBank:DB00609 PMID:15850780" + "A thiocarboxamide that is pyridine-4-carbothioamide substituted by an ethyl group at position 2. A prodrug that undergoes metabolic activation by conversion to the corresponding S-oxide." "PMID:14651620 Reaxys:116474 PMID:15673755 KEGG:C07665 Patent:GB800250 LINCS:LSM-5620 HMDB:HMDB0014747 KEGG:D00591 Wikipedia:Ethionamide CAS:536-33-4 Drug_Central:1083 DrugBank:DB00609 PMID:15850780" "A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. Partial seizures that feature alterations of consciousness are referred to as complex partial seizures (epilepsy, complex partial)." "DOID:3330 MESH:D020937 UMLS:C0544645 MEDGEN:107460 MeSH:D020937 MONDO:0006892" "The consumption of the recreational drug cannabis (also known as marijuna and a number of other colloquial names). Cannabis use is illegal in some countries but not in others." "MedDRA:10070996" @@ -9520,7 +9464,7 @@ "The amount of a aspartyl aminopeptidase when measured in blood serum." "Chornic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow." - "A bile acid anion that is the conjugate base of cholic acid." "Beilstein:3915750 Reaxys:3915750" + "A bile acid anion that is the conjugate base of cholic acid." "Reaxys:3915750" "A lipoprotein concentration assay that measures the concentration of small low-density lipoprotein in a specimen." "The amount of a smad1 when measured in blood." "PMID:37794183" "RWPE-2 cells were derived from RWPE-1 cells (ATCC CRL-11609) by transformation with Ki-ras using the Kirsten murine sarcoma virus (Ki-MuSV)." "ATCC:CRL-11610" @@ -9705,7 +9649,7 @@ "Malocclusion in which the mandible is anterior to the maxilla as reflected by the first relationship of the first permanent molar (mesioclusion)." "UMLS:C0399526 OMIM:176700 Orphanet:2964 MEDGEN:98316 GARD:10319 MESH:D008313" "RRID:CVCL_2206" - "A retinoic acid in which the exocyclic double bonds have 7E,9Z,11E,13E geometry." "PMID:7670094 PMID:12611604 PMID:16144296 CiteXplore:15292987 Drug_Central:3862 CiteXplore:12611604 Reaxys:2057222 KEGG COMPOUND:C15493 CiteXplore:15519497 CiteXplore:15217968 CiteXplore:18404486 HMDB:HMDB02369 PMID:11978340 PMID:19678713 PMID:17019405 MeSH:C103303 CiteXplore:16144296 SNOMEDCT:409488005 PMID:18404486 KEGG:D02815 CiteXplore:11978340 PMID:15217968 SNOMEDCT:116086005 PMID:12882648 CiteXplore:19678713 DrugBank:DB00523 CiteXplore:7670094 ChemIDplus:5300-03-8 CiteXplore:12882648 PMID:10684759 HMDB:HMDB0002369 CAS:5300-03-8 KEGG:C15493 Wikipedia:Alitretinoin NCIt:C1574 LIPID_MAPS_instance:LMPR01090022 PMID:15519497 CiteXplore:10684759 KEGG DRUG:D02815 ChEMBL:133216 PMID:18400206 CiteXplore:17019405 CiteXplore:18400206 PMID:15292987" + "A retinoic acid in which the exocyclic double bonds have 7E,9Z,11E,13E geometry." "PMID:7670094 PMID:12611604 PMID:16144296 CiteXplore:15292987 Drug_Central:3862 CiteXplore:12611604 Reaxys:2057222 KEGG COMPOUND:C15493 CiteXplore:15519497 CiteXplore:15217968 CiteXplore:18404486 HMDB:HMDB02369 PMID:11978340 PMID:19678713 PMID:17019405 MeSH:C103303 CiteXplore:16144296 SNOMEDCT:409488005 PMID:18404486 KEGG:D02815 CiteXplore:11978340 PMID:15217968 SNOMEDCT:116086005 PMID:12882648 CiteXplore:19678713 DrugBank:DB00523 CiteXplore:7670094 ChemIDplus:5300-03-8 CiteXplore:12882648 PMID:10684759 HMDB:HMDB0002369 KEGG:C15493 CAS:5300-03-8 Wikipedia:Alitretinoin NCIt:C1574 LIPID_MAPS_instance:LMPR01090022 PMID:15519497 CiteXplore:10684759 KEGG DRUG:D02815 ChEMBL:133216 PMID:18400206 CiteXplore:17019405 CiteXplore:18400206 PMID:15292987" "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Orf virus, which is transmitted_by contact with infected or recently vaccinated animals, or transmitted_by fomites carrying the virus. The infection has_symptom lesions on the finger, hand, arm, face, and penis." "UMLS:C0013570 MedDRA:10010806 SCTID:74050005 MESH:D004474 MONDO:0005717 ICD9:051.2 MeSH:D004474 MEDGEN:41702 DOID:8771" "Bleeding at irregular intervals." "SNOMEDCT_US:237130006 UMLS:C0025874 SNOMEDCT_US:64996003 SNOMEDCT_US:19155002" "OMIM:611597 ICD10:Q12.0" @@ -9727,7 +9671,7 @@ "The Illumina HiSeq X is an ultra-high-throughput sequencing machine developed by Illumina. Sets of 5 or 10 HiSeq X instruments make up the Illumina HiSeq X Five and Illumina HiSeq X Ten systems, respectively." "CS57731 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158755&type=germplasm" "The amount of a cytochrome c oxidase subunit 7A-related protein, mitochondrial when measured in blood serum." - "The glycosyloxyflavone which is the 7-O-glucuronide of baicalein. It is an active ingredient of Chinese herbal medicine Scutellaria baicalensis." "PMID:33008383 PMID:34044073 HMDB:HMDB0041832 KNApSAcK:C00001024 PMID:34053448 PMID:32795339 Wikipedia:Baicalin LIPID_MAPS_instance:LMPK12111081 CAS:21967-41-9 Drug_Central:4055 PMID:34029124 PMID:33815110 PMID:22467027 PMID:33224035 PMID:33269624 PMID:33352232 PMID:10724177 PMID:25847243 Patent:CN102584918 PMID:33595821 PMID:33992597 PMID:23354080 PMID:23142347 PMID:23302221 PMID:32707128 PMID:33923637 Patent:WO2012119458 PMID:18650094 Reaxys:70480 PMCID:PMC8165801 PMID:33955315 PMID:33921971 PMID:23523628 PMID:33891262 MetaCyc:CPD-12725 PMID:21087019 PMID:33493657 PMID:33801847 PDBeChem:0XE KEGG:C10025 PMID:33732310 Beilstein:70480 PMID:33652818 PMID:33935719 PMID:33781030" + "The glycosyloxyflavone which is the 7-O-glucuronide of baicalein. It is an active ingredient of Chinese herbal medicine Scutellaria baicalensis." "PMID:33008383 PMID:34044073 HMDB:HMDB0041832 KNApSAcK:C00001024 PMID:34053448 PMID:32795339 Wikipedia:Baicalin LIPID_MAPS_instance:LMPK12111081 CAS:21967-41-9 Drug_Central:4055 PMID:34029124 PMID:33815110 PMID:22467027 PMID:33224035 PMID:33269624 PMID:33352232 PMID:10724177 PMID:25847243 Patent:CN102584918 PMID:33595821 PMID:33992597 PMID:23354080 PMID:23142347 PMID:23302221 PMID:32707128 PMID:33923637 Patent:WO2012119458 PMID:18650094 Reaxys:70480 PMCID:PMC8165801 PMID:33955315 PMID:33921971 PMID:23523628 PMID:33891262 MetaCyc:CPD-12725 PMID:21087019 PMID:33493657 PMID:33801847 PDBeChem:0XE KEGG:C10025 PMID:33732310 PMID:33652818 PMID:33935719 PMID:33781030" "ICD10:Q21.0" @@ -9898,7 +9842,6 @@ "A renal cell carcinoma that occurs during childhood." "UMLS:C1333001 DOID:4454 MEDGEN:232070 NCIT:C6568" "Orphanet:98045" - "INFARCTION of the dorsolateral aspect of MEDULLA OBLONGATA in the BRAIN STEM. It is caused by occlusion of the VERTEBRAL ARTERY and/or the posterior inferior cerebellar artery. Clinical manifestations vary with the size of infarction, but may include loss of pain and temperature sensation in the ipsilateral face and contralateral body below the chin; ipsilateral HORNER SYNDROME; ipsilateral ATAXIA; DYSARTHRIA; VERTIGO; nausea, hiccup; dysphagia; and VOCAL CORD PARALYSIS. (From Adams et al., Principles of Neurology, 6th ed, p801)" "MONDO:0006827 MESH:D014854 MedDRA:10024033 NCIt:C84807 MeSH:D014854 MEDGEN:53057 icd11.foundation:1606151456 UMLS:C0043019 ICD9:437.1 DOID:3522 NCIT:C84807 SCTID:78569004" "A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present." "ICD-10:Q21.3 NCIt:C84505 ICD9:745.2 UMLS:C0039685 OMIM:187500 SNOMEDCT:86299006 SNOMEDCT_US:86299006 DOID:6419" "The amount of a brain-specific angiogenesis inhibitor 1-associated protein 2 when measured in blood serum." "Ability to walk or cycle unaided for 10 minutes, as reported by an individual." @@ -9995,7 +9938,6 @@ "The amount of a MANSC domain-containing protein 1 when measured in blood serum." "A neoplasm that arises from SCHWANN CELLS of the cranial, peripheral, and autonomic nerves. Clinically, these tumors may present as a cranial neuropathy, abdominal or soft tissue mass, intracranial lesion, or with spinal cord compression. Histologically, these tumors are encapsulated, highly vascular, and composed of a homogenous pattern of biphasic fusiform-shaped cells that may have a palisaded appearance. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp964-5)" "SNOMEDCT:126949007 MedDRA:10029234 ONCOTREE:SCHW MedDRA:10029235 OMIM:162091 SNOMEDCT:985004 Orphanet:252164 NANDO:2200103 DOID:3192 SNOMEDCT:404023006 MONDO:0002546 SNOMEDCT:404022001 DOID:955 NCIT:C3269 NIFSTD:birnlex_12603 MedDRA:10039667 DOID:12689 SCTID:404022001 MeSH:D009442 MEDGEN:45053 ICDO:9560/0 NCIt:C3269 ICD9:215.9 SNOMEDCT:253086004 DOID:3196 SNOMEDCT:77418004 DOID:3206 SNOMEDCT:409704009 SNOMEDCT:253087008 SNOMEDCT:253088003 GARD:4767 UMLS:C0027809" "An infiltrating bladder transitional cell carcinoma exhibiting micropapillary growth pattern. -- 2003" "EFO:0008512 NCIT:C27202 https://doi.org/10.4103/1742-6413.107986 UMLS:C1517579 DOID:6976" - "A pathological anxiety characterized by fear or anxiety triggered by a specific stimulus or situation." "MeSH:D010698 MedDRA:10034919 ICD9:300.2 ICD9:300.20 NCIT:C35420 SCTID:386810004 MEDGEN:83881 UMLS:C0349231 MESH:D010698 NCIt:C35420 MONDO:0003699 DOID:591 ICD10:F40 Wikipedia:Phobia" "An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy." "MedDRA:10021534 DOID:8503" @@ -10060,7 +10002,7 @@ "Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation." "DOID:0060006 DOID:0090012 Orphanet:275 GARD:9987 UMLS:C1865370 OMIM:602450 MEDGEN:355454 SCTID:715982006" "Quantification of phosphatidylcholine diacyl C42:1 measurement in a sample." "PMID:26068415" - "The collecting duct is a portion of the nephron through which water flows, moving passively down its concentration gradient." "CALOHA:TS-0860 ZFA:0005294 GAID:434 TAO:0005294 FMA:15628 BTO:0000761 Wikipedia:Collecting_tubule MESH:D007685 MA:0000371 SCTID:28202009 EMAPA:28407 EV:0100391" + "The collecting duct is a portion of the nephron through which water flows, moving passively down its concentration gradient." "EV:0100391 CALOHA:TS-0860 ZFA:0005294 GAID:434 TAO:0005294 FMA:15628 BTO:0000761 Wikipedia:Collecting_tubule MESH:D007685 MA:0000371 SCTID:28202009 EMAPA:28407" "A benign or malignant neoplasm arising from the sweat glands." "MeSH:D013544 ICD9:239.2 MESH:D013544 ICDO:8400/1 DOID:2664 UMLS:C0038987 SCTID:126490003 MONDO:0002381 MEDGEN:21039 NCIT:C3398 NCIt:C3398 SNOMEDCT:126490003" "Constitutional type in traditional Korean medicine. Individuals classed under this type are supposed to have a large spleen, and small kidneys. They have whitish skin. Like So-Eum, many of this type are skinny." "Wikipedia:Sasang_typology PMID:25888059" @@ -10079,13 +10021,13 @@ "A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes. (WHO)" "ICDO:9391/3 MESH:D004806 DOID:4844 MedDRA:10014967 NCIT:C3017 ICD10:D43.2 NANDO:2200088 MEDGEN:41825 GARD:6353 ONCOTREE:EPM UMLS:CN201941 UMLS:C0014474 GARD:0006353 Orphanet:251636 MONDO:0016698" "A fruit formation stage (PO:0025501) that begins when the plant cells (PO:0009002) in a fruit (PO:0009001) begin to divide or expand, and ends when the fruit has reached 10% of its final size." "An animal or plant or part thereof that nourishes and supports a parasite either in a lab or natural environment." "NCIt:C66819 MO:101" - "A member of the class of furans used to treat peptic ulcer disease (PUD) and gastroesophageal reflux disease." "DrugBank:DB00863 Patent:FR2384765 Wikipedia:Ranitidine PMID:19694603 KEGG:D00422 Patent:US4128658 HMDB:HMDB0001930 PMID:18609122 Beilstein:4327819 CAS:66357-35-5 Reaxys:4327819" + "A member of the class of furans used to treat peptic ulcer disease (PUD) and gastroesophageal reflux disease." "DrugBank:DB00863 Patent:FR2384765 Wikipedia:Ranitidine PMID:19694603 KEGG:D00422 Patent:US4128658 HMDB:HMDB0001930 PMID:18609122 CAS:66357-35-5 Reaxys:4327819" "The amount of a ubiquitin-like modifier-activating enzyme 5 when measured in blood serum." "A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans." "NCIt:C3293 DOID:8398 HP:0002758 ICD10:M19 ICD10:M15 SNOMEDCT:396275006 OMIM:607850 MedDRA:10031161 OMIM:612400 MeSH:D010003 OMIM:165720 OMIM:140600 EV:0400132" "A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3)." "MESH:C535749 GARD:9838 Orphanet:79327 DOID:0080563 SCTID:720941007 MEDGEN:419308 UMLS:C2931005 OMIM:608540" "Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported." "UMLS:C5568837 GARD:17842 Orphanet:468661 OMIM:616451 DOID:0110819 MEDGEN:1800260" - "A labdane diterpenoid isolated from the Indian Coleus plant." "CAS:66575-29-9 PMID:15135319 Patent:US4088659 KNApSAcK:C00003416 KEGG:D03584 PMID:15380183 KEGG:C09076 CAS:66428-89-5 Patent:DE2557784 PDBeChem:FOK PMID:9828101 Patent:US4476140 Beilstein:4300863 PMID:8489512 PMID:14691682 PMID:11816015 PMID:7755573 PMID:7929167 Reaxys:4300863 PMID:7875530 PMID:12676767 PMID:8985363 PMID:17570033 PMID:16644480 PMID:9478958 Wikipedia:Forskolin DrugBank:DB02587 PMID:19831022 PMID:12836714 PMID:7898427 PMID:1547891 PMID:15525467" + "A labdane diterpenoid isolated from the Indian Coleus plant." "CAS:66575-29-9 PMID:15135319 Patent:US4088659 KNApSAcK:C00003416 KEGG:D03584 PMID:15380183 KEGG:C09076 CAS:66428-89-5 Patent:DE2557784 PDBeChem:FOK PMID:9828101 Patent:US4476140 PMID:8489512 PMID:14691682 PMID:11816015 PMID:7755573 PMID:7929167 Reaxys:4300863 PMID:7875530 PMID:12676767 PMID:8985363 PMID:17570033 PMID:16644480 PMID:9478958 Wikipedia:Forskolin DrugBank:DB02587 PMID:19831022 PMID:12836714 PMID:7898427 PMID:1547891 PMID:15525467" "A rare lymphoma that arises from the trachea. Signs and symptoms include dyspnea, cough, wheezing, and stridor." "NCIT:C6248 MEDGEN:277825 UMLS:C1336773 DOID:12001" "Human cortical neuronal cell line, established from a 18 months old female patient that suffered from unilateral megalencephaly." "BTO:0003261 RRID:CVCL_3283 CLO:0003663" "Quantification of alpha/beta hydrolase domain-containing protein 14A in a sample." "PMID:29875488" @@ -10094,7 +10036,6 @@ "Quantification of phosphocreatine levels in a sample." "PMID:23823483" "All tumors in the GASTROINTESTINAL TRACT arising from mesenchymal cells (MESODERM) except those of smooth muscle cells (LEIOMYOMA) or Schwann cells (SCHWANNOMA)." "MeSH:D046152 OMIM:606764 DOID:9253" - "A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening." "UMLS:C0005716 ICD9:116.0 NCIT:C34429 ICD10CM:B40 MESH:D001759 CSP:1988-4119 DOID:12663 ICD9:116 MEDGEN:597 MeSH:D001759 icd11.foundation:1968108845 MedDRA:10005098 SCTID:191950004 NCIT:C34428 MONDO:0005672" "A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine." "ICD9:721.6 DOID:6652 GARD:842 MedDRA:10080059 Orphanet:2206 UMLS:C0020498 NORD:1053 SCTID:31487001 MESH:D004057 NCIT:C84671 ICD9:733.99 MONDO:0007127 MeSH:D004057 MEDGEN:5695" "The amount of a polypeptide N-acetylgalactosaminyltransferase 1 when measured in blood serum." "Quantification of the change in serum albumin levels in an individual over time, e.g. over the course of several hours after a high-fat meal." "PMID:34610981" @@ -10136,7 +10077,7 @@ "A benign or malignant neoplasm arising during childhood." "NCIT:C6283 MEDGEN:237153 UMLS:C1368871" "Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect." "Orphanet:2847 UMLS:C4510305 GARD:18780 MEDGEN:1373904" - "A cyclohexenecarboxylate ester that is the ethyl ester of oseltamivir acid. An antiviral prodrug (it is hydrolysed to the active free carboxylic acid in the liver), it is used to slow the spread of influenza." "PMID:11825310 PMID:19439487 Patent:US5763483 SNOMEDCT:386142008 NCIt:C62061 Reaxys:8003908 CAS:196618-13-0 Wikipedia:Oseltamivir MeSH:D053139 PMID:11075941 KEGG:D08306 KEGG:C08092 PMID:11270942 SNOMEDCT:412261005 PMID:18936828 Drug_Central:2001 PMID:19884755 Beilstein:8003908 HMDB:HMDB0014343 DrugBank:DB00198 PMID:19355841 PMID:17912363 PMID:18559644 PMID:19557131" + "A cyclohexenecarboxylate ester that is the ethyl ester of oseltamivir acid. An antiviral prodrug (it is hydrolysed to the active free carboxylic acid in the liver), it is used to slow the spread of influenza." "PMID:11825310 PMID:19439487 Patent:US5763483 SNOMEDCT:386142008 NCIt:C62061 Reaxys:8003908 CAS:196618-13-0 Wikipedia:Oseltamivir MeSH:D053139 PMID:11075941 KEGG:D08306 KEGG:C08092 PMID:11270942 SNOMEDCT:412261005 PMID:18936828 Drug_Central:2001 PMID:19884755 HMDB:HMDB0014343 DrugBank:DB00198 PMID:19355841 PMID:17912363 PMID:18559644 PMID:19557131" "The amount of a BPI fold-containing family B member 1 when measured in blood serum." "The amount of a erbin when measured in blood." "PMID:37794183" "Quantification of 26S proteasome non-ATPase regulatory subunit 11 in a sample." "PMID:29875488" @@ -10187,7 +10128,7 @@ "Quantification of the amount of NMMA in a sample." "PMID:35995766" "SNOMEDCT:114004008 MeSH:D064411" "The determination of the amount of non-histone chromosomal protein HMG-14 in a sample" "PMID:34814699" - "A device that converts a variable electrical current to mechanical vibration of a metallic probe. The device is used for the lysis of cells, the mixing of compounds or solutions, to framgent molecules of DNA, or to create emulsions." "MO:477" + "A device that converts a variable electrical current to mechanical vibration of a metallic probe. The device is used for the lysis of cells, the mixing of compounds or solutions, to framgent molecules of DNA, or to create emulsions."@en "MO:477" "OMIM:185020 ICD10:D58.8" "quantification of the amount of cathepsin S in a sample" "RRID:CVCL_0076 CLO:0009095 BTO:0004987" @@ -10387,7 +10328,7 @@ "Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive physical exertion." "SCTID:12694001 SNOMEDCT:12694001 DOID:3933 MeSH:D000868 UMLS:C0003152 NCIt:C118422 MONDO:0006648 MEDGEN:1569 MESH:D000868" "A disorder of the vasculature of the cornea." "DOID:10989 NCIT:C35116 ICD9:372.74 MEDGEN:12052 SCTID:74100001 UMLS:C0042370" "The amount of a hepatoma-derived growth factor-like protein 1 when measured in blood serum." - "A member of the class of barbiturates, the structure of which is that of barbituric acid substituted at C-5 by ethyl and phenyl groups." "Gmelin:336231 Drug_Central:2134 PMID:16789751 PMID:17481896 PMID:12873507 PMID:6716399 Reaxys:233363 PMID:8691481 PMID:15324906 PMID:3950916 PMID:1681105 PMID:10891117 PMID:1495012 PMID:16793262 PMID:1875341 PMID:16190747 PMID:3654008 PMID:3950919 PMID:2061925 PMID:12361404 PMID:8246220 CAS:50-06-6 PMID:2724304 Beilstein:233363 PMID:3820228 Wikipedia:Phenobarbital PMID:9016327 PMID:9544213 PMID:8035421 PMID:4032429 PMID:7562939 Patent:US1025872 PMID:7799408 PMID:2296016 PMID:17827020 PMID:8230125 PMID:17870541 PMID:2308142 SNOMEDCT:51073002 PMID:3735320 PMID:3336019 PMID:10866370 PMID:3783590 PMID:3572984 PMID:7381857 DrugBank:DB01174 PMID:17300161 NCIt:C739 PMID:2579237 MeSH:D010634 PMID:6864729 PMID:11311072 PMID:16139502 PMID:1992141 KEGG:D00506 PMID:2308141 PMID:3599019 PMID:3016269 HMDB:HMDB0015305 KEGG:C07434 PMID:6737420 PMID:8627613 PMID:15857133 PMID:7205879 PMID:2170646 SNOMEDCT:373505007 PMID:3783589" + "A member of the class of barbiturates, the structure of which is that of barbituric acid substituted at C-5 by ethyl and phenyl groups." "Gmelin:336231 Drug_Central:2134 PMID:16789751 PMID:17481896 PMID:12873507 PMID:6716399 Reaxys:233363 PMID:8691481 PMID:15324906 PMID:3950916 PMID:1681105 PMID:10891117 PMID:1495012 PMID:16793262 PMID:1875341 PMID:16190747 PMID:3654008 PMID:3950919 PMID:2061925 PMID:12361404 PMID:8246220 CAS:50-06-6 PMID:2724304 PMID:3820228 Wikipedia:Phenobarbital PMID:9016327 PMID:9544213 PMID:8035421 PMID:4032429 PMID:7562939 Patent:US1025872 PMID:7799408 PMID:2296016 PMID:17827020 PMID:8230125 PMID:17870541 PMID:2308142 SNOMEDCT:51073002 PMID:3735320 PMID:3336019 PMID:10866370 PMID:3783590 PMID:3572984 PMID:7381857 DrugBank:DB01174 PMID:17300161 NCIt:C739 PMID:2579237 MeSH:D010634 PMID:6864729 PMID:11311072 PMID:16139502 PMID:1992141 KEGG:D00506 PMID:2308141 PMID:3599019 PMID:3016269 HMDB:HMDB0015305 KEGG:C07434 PMID:6737420 PMID:8627613 PMID:15857133 PMID:7205879 PMID:2170646 SNOMEDCT:373505007 PMID:3783589" "An abnormally decreased level of immunoglobulin in blood." "SNOMEDCT_US:119250001 UMLS:C4048270 UMLS:C0086438" "Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis." "MEDGEN:1637079 UMLS:C4706585 GARD:21762 Orphanet:423894" @@ -10401,7 +10342,6 @@ "Quantification of the amount of N-acetylphenylalanine in a sample." "PMID:35347128" "The determination of the amount of synaptosomal-associated protein 25 in a sample" "PMID:34814699" - "An extrapulmonary tuberculosis that is located_in lymph node, and has_symptom lymphadenopathy, has_symptom fever, has_symptom weight loss, has_symptom fatigue, has_symptom night sweats and has_symptom cough." "MESH:D014388 MONDO:0005831 SCTID:10893003 UMLS:C0041316 MeSH:D014388 MEDGEN:11946 DOID:4889 NCIT:C26896 MedDRA:10025183" "C. elegans strain with phenotypes; solitary feeding increased, foraging behavior variant." "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" @@ -10426,7 +10366,7 @@ "A measurement of some aspect of psychological systems for social processes e.g. those that mediate responses in interpersonal settings of various types, including perception and interpretation of others’ actions. Based on the NIH NIMH's research domain criteria (RDoC). https://www.nimh.nih.gov/research-priorities/rdoc/definitions-of-the-rdoc-domains-and-constructs.shtml" "Frequency of chromatid-type chromosomal aberrations in human peripheral blood (typically resulting in damage to a single chromatid)." "PMID:30368896" - "An anxiety disorder characterized by recurrent excessive distress due to fear of separation from the home or from major attachment figures; the distress is developmentally inappropriate and causes impairment in social, academic, or other areas of functioning." "icd11.foundation:830200631 SCTID:11806006 DOID:10685 UMLS:C1527281 Wikipedia:Separation_anxiety_disorder MESH:D001010 MedDRA:10040045 MeSH:D001010 UMLS:C0003477 NCIT:C35014 NCIt:C35014 MEDGEN:1999 MONDO:0001098" + "An anxiety disorder characterized by recurrent excessive distress due to fear of separation from the home or from major attachment figures; the distress is developmentally inappropriate and causes impairment in social, academic, or other areas of functioning." "MeSH:D001010 Wikipedia:Separation_anxiety_disorder MONDO:0001098 SCTID:11806006 MedDRA:10040045 MESH:D001010 UMLS:C1527281 NCIt:C35014 icd11.foundation:830200631 DOID:10685 UMLS:C0003477 MEDGEN:1999 NCIT:C35014" "An adenomyoma characterized by the presence of marked glandular architectural complexity." "MEDGEN:266248 NCIT:C6895 UMLS:C1300347 DOID:4993" "Aortic valve stenosis is a aortic valve disease caused by the incomplete opening of the aortic valve. The aortic valve controls the direction of blood flow from the left ventricle to the aorta. When in good working order, the aortic valve does not impede the flow of blood between these two spaces. Under some circumstances, the aortic valve becomes narrower than normal, impeding the flow of blood. This is known as aortic valve stenosis, or aortic stenosis, often abbreviated AS." "MeSH:D001024 DOID:1712 SNOMEDCT:420503003 NCIt:C64938 OMIM:109730 MedDRA:10002906 SNOMEDCT:60573004 NCIt:C50462" @@ -10509,7 +10449,7 @@ "A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level." "SCTID:725408001 MESH:C537308 GARD:12860 Orphanet:64753 MEDGEN:340052 NCIT:C165500 DOID:0050755 OMIM:606002 UMLS:C1853761" "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene." "UMLS:C2673257 MEDGEN:388595 SCTID:783064000 OMIM:611726 icd11.foundation:383417276 GARD:2167 MESH:C567095 Orphanet:263516 DOID:0111446" - "An sn-glycerol 3-phosphate having unsubstituted hydroxy groups." "PDBeChem:GP9 Reaxys:1723975 Beilstein:1723975 PMID:1694860 PMID:16745347 PMID:19049970 CAS:17989-41-2 PDBeChem:G3P KEGG:C00093 KNApSAcK:C00007288 MetaCyc:GLYCEROL-3P" + "An sn-glycerol 3-phosphate having unsubstituted hydroxy groups." "PDBeChem:GP9 Reaxys:1723975 PMID:1694860 PMID:16745347 PMID:19049970 CAS:17989-41-2 PDBeChem:G3P KEGG:C00093 KNApSAcK:C00007288 MetaCyc:GLYCEROL-3P" "A carcinoma that involves the duodenum." "NCIT:C4803 SCTID:254570009 MEDGEN:107442 UMLS:C0541912 icd11.foundation:220022932" "Quantification of the amount of X-13431 in a sample." "PMID:35347128" "Quantification of the amount of X-12734 in a sample." "PMID:24816252" @@ -10524,7 +10464,6 @@ "SNOMEDCT:439180005" "A gonadal or extragonadal malignant neoplasm that arises from germ cells. Representative examples include embryonal carcinoma, yolk sac tumor, and seminoma." "MEDGEN:890580 GARD:3360 SCTID:145831000119103 MedDRA:10061184 MONDO:0006290 EFO:1000352 NCIT:C4925 UMLS:C4048549 GARD:0003360" - "Inflammation of the RECTUM and the distal portion of the COLON." "MEDGEN:540639 MeSH:D011350 MONDO:0007005 DOID:8775 UMLS:C0267390 SCTID:52506002 ICD9:556.3" "Quantification of the amount of N2-methylguanosine in a sample." "PMID:35347128" "Quantification of the amount of 1-palmitoleoyl-GPC (16:1) in a sample." "PMID:35347128" "A NK1.1-positive T cell that is Ly49H-positive." @@ -10580,7 +10519,7 @@ "A carotid body paraganglioma that is confined to the site of origin, without metastatic potential." "UMLS:C2698359 EFO:1000108 MEDGEN:396868 NCIT:C79950 MONDO:0006104" "SNOMEDCT:449509004" "quantification of the amount of low molecular weight phosphotyrosine protein phosphatase in a sample" - "A broad-spectrum polyketide antibiotic produced by the Streptomyces genus of actinobacteria." "Patent:US2712517 PMID:19136803 PMID:1650428 PMID:11061623 Patent:US2699054 Patent:US3005023 PMID:16443056 KEGG:C06570 Reaxys:2230417 DrugBank:DB00759 Patent:US3019173 Patent:US3301899 PMID:12934399 Beilstein:2230417 PMID:11550419 PMID:18406588 PMID:17251127 PMID:19032078 PMID:26876942 Drug_Central:2611 PDBeChem:TAC PMID:16749547 CAS:60-54-8 NCIt:C865 Wikipedia:Tetracycline PMID:11744940 PMID:25286144 MeSH:D013752 SNOMEDCT:66261008 Gmelin:1103368 PMID:14585720 PMID:15913752 PMID:18326855 PMID:19112759 PMID:15825421 PMID:17260506 KEGG:D00201 SNOMEDCT:372809001 Patent:US2886595 VSDB:1739 MetaCyc:CPD0-1414" + "A broad-spectrum polyketide antibiotic produced by the Streptomyces genus of actinobacteria." "Patent:US2712517 PMID:19136803 PMID:1650428 PMID:11061623 Patent:US2699054 Patent:US3005023 PMID:16443056 KEGG:C06570 Reaxys:2230417 DrugBank:DB00759 Patent:US3019173 Patent:US3301899 PMID:12934399 PMID:11550419 PMID:18406588 PMID:17251127 PMID:19032078 PMID:26876942 Drug_Central:2611 PDBeChem:TAC PMID:16749547 CAS:60-54-8 NCIt:C865 Wikipedia:Tetracycline PMID:11744940 PMID:25286144 MeSH:D013752 SNOMEDCT:66261008 Gmelin:1103368 PMID:14585720 PMID:15913752 PMID:18326855 PMID:19112759 PMID:15825421 PMID:17260506 KEGG:D00201 SNOMEDCT:372809001 Patent:US2886595 VSDB:1739 MetaCyc:CPD0-1414" "The amount of a gap junction alpha-1 protein when measured in blood serum." "An osteosarcoma arising from the soft tissue." "ICD9:170.9 UMLS:C0855052 DOID:3357 NCIT:C8810 SCTID:404077005 MEDGEN:163186" @@ -10598,7 +10537,6 @@ "Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome that affects the connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility." "GARD:2088 Orphanet:287 NANDO:1200646 SCTID:715318006 MEDGEN:909864 UMLS:C4225429 NANDO:2201256" "Quantification of the amount of L-Threonine in a sample." "PMID:33634981" "UMLS:C2750442 OMIM:613280" - "A state of sudden and severe confusion." "icd11.foundation:897917531 NCIT:C2981 MONDO:0045057 MedDRA:10012218 MESH:D003693 SCTID:2776000 NCIt:C2981 MedDRA:10012226 MEDGEN:41445 ICD9:293.0 UMLS:C0011206" "A phytohormone that promote cell division, or cytokinesis, in plant roots and shoots." "Wikipedia:Cytokinin MeSH:D003583 SNOMEDCT:88074008" "Volume of hippocampal tail." @@ -10639,7 +10577,7 @@ "Human mantle cell lymphoma cell line" "RRID:CVCL_1872" "MEDGEN:1805172 UMLS:C5676955 OMIM:619814 DOID:0070387" "Cardiac manifestation of systemic rheumatological conditions, such as RHEUMATIC FEVER. Rheumatic heart disease can involve any part the heart, most often the HEART VALVES and the ENDOCARDIUM." "NCIT:C34882 ICD9:398.90 MESH:D012214 MedDRA:10062110 MEDGEN:20565 DOID:9814 UMLS:C0035439 DOID:0050827 MeSH:D012214 ICD10:I09 MedDRA:10039061 ICD9:398.99 NCIt:C34882 MONDO:0006955 MedDRA:10039060 SCTID:23685000 ICD10:I01 SNOMEDCT:23685000" - "The 6-O-methyl ether of erythromycin A, clarithromycin is a macrolide antibiotic used in the treatment of respiratory-tract, skin and soft-tissue infections. It is also used to eradicate Helicobacter pylori in the treatment of peptic ulcer disease. It prevents bacteria from growing by interfering with their protein synthesis." "Patent:EP41355 Reaxys:3581974 PMID:16387493 CAS:81103-11-9 DrugBank:DB01211 KEGG:C06912 LINCS:LSM-5606 KEGG:D00276 Drug_Central:668 Beilstein:3581974 Patent:US4331803 PDBeChem:CTY LIPID_MAPS_instance:LMPK04000014" + "The 6-O-methyl ether of erythromycin A, clarithromycin is a macrolide antibiotic used in the treatment of respiratory-tract, skin and soft-tissue infections. It is also used to eradicate Helicobacter pylori in the treatment of peptic ulcer disease. It prevents bacteria from growing by interfering with their protein synthesis." "CAS:81103-11-9 Reaxys:3581974 KEGG:D00276 LIPID_MAPS_instance:LMPK04000014 LINCS:LSM-5606 Drug_Central:668 KEGG:C06912 Patent:US4331803 PDBeChem:CTY Patent:EP41355 PMID:16387493 DrugBank:DB01211" "Postpoliomyelitis syndrome (PPS) is a neurologic disorder characterized by the development of new neuromuscular symptoms such as progressive muscular weakness or abnormal muscle fatigability occurring in survivors of the acute paralytic form of poliomyelitis, 15-40 years after recovery from the disease, and that is unexplained by other medical causes. Other manifestations that can occur gradually include generalized fatigue, muscle atrophy, muscle and joint pain, intolerance to cold, and difficulties sleeping, swallowing or breathing." "MESH:D016262 MEDGEN:36363 DOID:4952 SCTID:31097004 UMLS:C0080040 MeSH:D016262 MONDO:0017416 icd11.foundation:2018885243 NORD:1600 GARD:4454 Orphanet:2942 ICD10:G14" "A carcinoma that arises from epithelial cells of the urinary bladder" "HP:0002862 SCTID:255108000 DOID:4007 NCIT:C4912 EFO:0000292 UMLS:C0699885 OMIM:109800" @@ -10805,7 +10743,6 @@ "Orphanet:98098 MEDGEN:1842627 UMLS:C5681515 GARD:19415" "UMLS:C0410648 SNOMEDCT_US:240220009" - "Form of granulomatous uveitis occurring in the region of the pars plana. This disorder is a common condition with no detectable focal pathology. It causes fibrovascular proliferation at the inferior ora serrata." "MedDRA:10034052 GARD:7339 MESH:D015868 MeSH:D015868 SCTID:314428001 MEDGEN:14623 UMLS:C0030593 OMIM:606177 NCIT:C34903 MONDO:0011644 SNOMEDCT:45688009 DOID:12731 icd11.foundation:127977237 ICD9:363.21 NCIt:C34903" "Quantification of uranyl acetate in blood plasma." "T3DB:T3D1177" "Is a measurement of the T-peak to T-end (TPE) interval on an electrocardiogram, is a measure of myocardial dispersion of repolarization and is associated with an increased risk of ventricular arrhythmias." "ICD10:Q82" @@ -10882,11 +10819,11 @@ "EHDAA:5923 TAO:0000632 FMA:7160 EMAPA:17381 SAEL:89 EV:0100100 MAT:0000305 FBbt:00004857 XAO:0000142" - "A phenylalanine derivative resulting from the formal condensation of the amino group of L-phenylalanine with the carboxy group of (3R)-5-chloro-8-hydroxy-3-methyl-1-oxo-3,4-dihydro-1H-2-benzopyran-7-carboxylic acid (ochratoxin alpha). It is among the most widely occurring food-contaminating mycotoxins, produced by Aspergillus ochraceus, Aspergillus carbonarius and Penicillium verrucosum." "PMID:33078253 PMID:16781114 PMID:16293235 PMID:18680942 Reaxys:1301486 PMID:17195275 PMID:29950703 PMID:16332622 LINCS:LSM-5521 PMID:33138019 Wikipedia:Ochratoxin_A PMID:9894829 PMID:17218050 PMID:15056805 Beilstein:1301486 PMID:23358140 CAS:303-47-9 PMID:11513689 MeSH:C025589 PMID:16332628 PMID:33171643 PMID:23296271 PMID:18638518 NCIt:C44427 PMID:16022500 PMID:11899122 HMDB:HMDB0029399 PMID:16097797 PMID:17580629 PMID:33338836 PMID:23282670 PMID:8941986 PMID:20201966 KEGG:C09955 PMID:19919898 PMID:23369011 PMID:8956233 KNApSAcK:C00003008" + "A phenylalanine derivative resulting from the formal condensation of the amino group of L-phenylalanine with the carboxy group of (3R)-5-chloro-8-hydroxy-3-methyl-1-oxo-3,4-dihydro-1H-2-benzopyran-7-carboxylic acid (ochratoxin alpha). It is among the most widely occurring food-contaminating mycotoxins, produced by Aspergillus ochraceus, Aspergillus carbonarius and Penicillium verrucosum." "PMID:33078253 PMID:16781114 PMID:16293235 PMID:18680942 Reaxys:1301486 PMID:17195275 PMID:29950703 PMID:16332622 LINCS:LSM-5521 PMID:33138019 Wikipedia:Ochratoxin_A PMID:9894829 PMID:17218050 PMID:15056805 PMID:23358140 CAS:303-47-9 PMID:11513689 MeSH:C025589 PMID:16332628 PMID:33171643 PMID:23296271 PMID:18638518 NCIt:C44427 PMID:16022500 PMID:11899122 HMDB:HMDB0029399 PMID:16097797 PMID:17580629 PMID:33338836 PMID:23282670 PMID:8941986 PMID:20201966 KEGG:C09955 PMID:19919898 PMID:23369011 PMID:8956233 KNApSAcK:C00003008" "A chronic inflammatory disorder of unknown etiology that affects the vulva. It is characterized by the development of white elevated plaques in the vulva. Histologically there is marked subepithelial fibrosis. Clinical manifestations include pruritus, dysuria, and dyspareunia." "UMLS:C0022783 NCIT:C27723 MONDO:0006491 NCIt:C27723 MESH:D007724 MEDGEN:7228" "Quantification of levels of pain." "Unilateral focal polymicrogyria (BFPP) is the mildest sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement." "DOID:0080919 MEDGEN:1842371 Orphanet:268947 GARD:20981 icd11.foundation:1006662041 UMLS:C5680773" - "Inflammation of the conjunctiva in a newborn due to Chlamydia trachomatis which was acquired during labor and delivery." "UMLS:C0009770 DOID:13800 ICD9:077.0 ICD9:077.98 NCIT:C116817 MEDGEN:1095 MONDO:0005808 MeSH:D003235 MedDRA:10021629 MESH:D003235 ICD10CM:A74.0 SCTID:231861005" + "Inflammation of the conjunctiva in a newborn due to Chlamydia trachomatis which was acquired during labor and delivery." "ICD9:077.0 MEDGEN:1095 ICD9:077.98 MedDRA:10021629 NCIT:C116817 MeSH:D003235 ICD10CM:A74.0 MONDO:0005808 UMLS:C0009770 DOID:13800 SCTID:231861005 MESH:D003235" "An autosomal recessive disorder characterized by global developmental delay, severe-to-profound intellectual disability, muscular hypotonia, seizures, brain anomalies, including thin corpus callosum and cerebellar atrophy, scoliosis, and mild facial dysmorphism." "OMIM:618590" "A death that can't be attributed to any precise cause." "NCIt:C82466 ICD10:R99" @@ -10934,7 +10871,6 @@ "Any process that activates or increases the frequency, rate or extent of ovulation, the release of a mature ovum/oocyte from an ovary." "An experiment where chromatin immunoprecipitation (ChIP) is used in combination with microarray technology." - "A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity." "MONDO:0007745 MeSH:D005878 ICD10CM:E80.4 MEDGEN:4891 SCTID:27503000 NCIt:C84729 Orphanet:357 icd11.foundation:1947520963 UMLS:C0017551 NCIT:C84729 DOID:2739 OMIM:143500 MESH:D005878" "A benign or malignant neoplasm affecting the nasopharynx. Representative examples of benign neoplasms include angiofibroma and squamous papilloma. Representative examples of malignant neoplasms include keratinizing squamous cell carcinoma and nonkeratinizing carcinoma." "MONDO:0005375 SCTID:126680004 OMIM:617075 EFO:0004252 UMLS:C0027439 NCIT:C3257 MESH:D009303 MEDGEN:6526" "mouse embryo stage at age 13.5 days" @@ -11119,14 +11055,13 @@ "Volcano-shaped lateral line sensory organ located in characteristic positions within the skin epithelium and containing hair cells and their support elements." "AAO:0001004 TAO:0000243 EFO:0003513 ZFA:0000243 BTO:0006219" "A polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism." "OMIM:602501 SCTID:703370002 GARD:6950 Orphanet:60040 NANDO:2200823 ICD9:759.89 NORD:1423 MESH:C536142 MEDGEN:355421 UMLS:C1865285" "Quantification of the amount of X-14374 in a sample." "PMID:24816252" - "Inflammation of the COLON section of the large intestine (INTESTINE, LARGE), usually with symptoms such as DIARRHEA (often with blood and mucus), ABDOMINAL PAIN, and FEVER." "MedDRA:10009887 NCIT:C26723 MedDRA:10009902 MESH:D003092 ICD9:558.9 MEDGEN:40385 HP:0002583 MONDO:0005292 DOID:0060180 SNOMEDCT:64226004 UMLS:C0009319 NCIt:C26723 SCTID:64226004 MeSH:D003092" "A cardiac ventricle that is in the left side of the heart." "BTO:0001629 EMAPA:17337 Wikipedia:Left_ventricle EHDAA2:0002178 galen:LeftVentricle NCIT:C12871 SCTID:244385005 MA:0000092 UMLS:C0225897 CALOHA:TS-0439 VHOG:0000718 FMA:7101" "A dicarboxylic acid dianion obtained by deprotonation of both carboxy groups of dodecanedioic acid; major species at pH 7.3." "Reaxys:4313813 PMID:21886157 MetaCyc:CPD-10670" "An extranodal lymphoma that arises from the esophagus with the bulk of the mass located in the esophagus. Dysphagia may be the presenting symptom. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue." "MEDGEN:234231 DOID:1106 UMLS:C1333459 NCIT:C5687" - "A phthalate ester that is the bis(2-ethylhexyl) ester of benzene-1,2-dicarboxylic acid." "PMID:28199414 Reaxys:1890696 KEGG:C03690 Beilstein:1890696 MetaCyc:BIS2-ETHYLHEXYLPHTHALATE PMID:17286146 PMID:28763719 PMID:19840837 CAS:117-81-7 PMID:12963402 PMID:16874505 Wikipedia:Bis(2-ethylhexyl)_phthalate PMID:19211671" + "A phthalate ester that is the bis(2-ethylhexyl) ester of benzene-1,2-dicarboxylic acid." "PMID:28199414 Reaxys:1890696 KEGG:C03690 MetaCyc:BIS2-ETHYLHEXYLPHTHALATE PMID:17286146 PMID:28763719 PMID:19840837 CAS:117-81-7 PMID:12963402 PMID:16874505 Wikipedia:Bis(2-ethylhexyl)_phthalate PMID:19211671" "The amount of a microtubule-associated protein RP/EB family member 2 when measured in blood serum." "MEDGEN:1806298 UMLS:C5676945 OMIM:619799 DOID:0070565" @@ -11219,7 +11154,7 @@ "A 17alpha-hydroxy-C21-steroid that is pregn-4-ene substituted by oxo groups at positions 3 and 20 and hydroxy groups at positions 11, 17 and 21. Cortisol is a corticosteroid hormone or glucocorticoid produced by zona fasciculata of the adrenal cortex, which is a part of the adrenal gland. It is usually referred to as the \"stress hormone\" as it is involved in response to stress and anxiety, controlled by corticotropin-releasing hormone (CRH). It increases blood pressure and blood sugar, and reduces immune responses." "LIPID_MAPS_instance:LMST02030001 Wikipedia:Hydrocortisone CAS:50-23-7 LINCS:LSM-5980 DrugBank:DB00741 SNOMEDCT:396458002 KEGG:D00088 Beilstein:1354819 Drug_Central:1388 KEGG:C00735 PMID:2268561 PDBeChem:HCY MeSH:D006854 Patent:US2602769 PMID:10438974 NCIt:C2290" "Miyoshi myopathy (MM) is a distal myopathy (see this term) characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and is associated with difficulties in standing on tip toes." "MeSH:C537480 OMIM:613318 OMIM:254130 UMLS:C1850808 ICD10:G71.0" - "An oxo dicarboxylate obtained by deprotonation of both carboxy groups of 2-oxoglutaric acid." "KEGG:C00026 CAS:64-15-3 PMID:17190852 PMID:24828042 MetaCyc:2-KETOGLUTARATE PMID:21791173 PMID:11913971 Beilstein:3664503 Reaxys:3664503 PMID:21184277 PMID:15612731 PMID:21196226 Gmelin:602479 PMID:19376872" + "An oxo dicarboxylate obtained by deprotonation of both carboxy groups of 2-oxoglutaric acid." "KEGG:C00026 CAS:64-15-3 PMID:17190852 PMID:24828042 MetaCyc:2-KETOGLUTARATE PMID:21791173 PMID:11913971 Reaxys:3664503 PMID:21184277 PMID:15612731 PMID:21196226 Gmelin:602479 PMID:19376872" "A steroid sulfate that is the 3-sulfate of epiandrosterone." "PMID:11711114 PMID:1926228 PMID:2171821 PMID:8987136 Reaxys:2225705" "GARD:5697 ICD9:710.8 OMIM:228800 SCTID:111210001 ICD10CM:M35.5 UMLS:C0494949 MEDGEN:105414 MESH:C537375" "Quantification of diamine acetyltransferase 1 in a sample." "PMID:29875488" @@ -11267,7 +11202,6 @@ "UMLS:C5680934 Orphanet:238654 icd11.foundation:1090144962 GARD:20642 MEDGEN:1843330" "A 5-formylcytosine-selective chemical labeling (fC-Seal) approach for genome-wide profiling of 5fC" "PMID:23602153" "A collection or collectivity of microorganisms." "NCIt:C68564" - "A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." "MESH:D013959 ICD9:246.8 SCTID:14304000 ICD10:E07 Wikipedia:Thyroid_disease MedDRA:10043785 ICD10CM:E00-E07 MedDRA:10043778 UMLS:C4317107 ICD10:E06 NCIT:C26893 ICD9:240-246.99 MEDGEN:1378579 DOID:50 MONDO:0003240 ICD9:246.9" "human lung adenocarcinoma cell line established from a surgical lung specimen of a 57-year-old Caucasian man who underwent surgery for undifferentiated squamous cell carcinoma of the lung (without having received prior radiation or chemotherapy) in 1986 (DSMZ catalog number ACC 383)" "ICD10:E77.1 UMLS:C0023806 OMIM:256550" "Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations." "MeSH:D008382 MedDRA:10026829 OMIM:610168 OMIM:154700 ICD10:Q87.4 UMLS:C0024796" @@ -11283,7 +11217,6 @@ "MeSH:D052201 SNOMEDCT:113798001" "The amount of a codanin-1 when measured in blood." "PMID:37794183" "A concretion in the prostate." "SCTID:85324003 MEDGEN:57431 UMLS:C0149525 DOID:13689 ICD9:602.0 ICD10CM:N42.0" - "Polymicrobial, nonspecific vaginitis associated with positive cultures of Gardnerella vaginalis and other anaerobic organisms and a decrease in lactobacilli. It remains unclear whether the initial pathogenic event is caused by the growth of anaerobes or a primary decrease in lactobacilli." "UMLS:C0085166 NCIT:C116973 SCTID:419760006 DOID:3385 MONDO:0005316 MESH:D016585 NCIt:C116973 MedDRA:10004055 MEDGEN:43118 icd11.foundation:63323819 MeSH:D016585 SNOMEDCT:419760006" "Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis." "GARD:93 icd11.foundation:415074833 DOID:0050472 SCTID:69488000 UMLS:C0546966 MEDGEN:108185 NORD:1454 NCIT:C84894 MESH:D056734 OMIM:158000 OMIM:252200 Orphanet:573" "a group of diseases affecting the color of skin" "ICD10:L81 DOID:10123" "A cystic and dysplastic dilation of the distal ureter within the bladder that may extend into the bladder neck and urethra." "HP:0000070 MedDRA:10056433 UMLS:C0041960 NANDO:2200183 MONDO:0008628 SCTID:12818004 ICD9:593.89 OMIM:191650 icd11.foundation:408801251 MESH:D014518 MEDGEN:21778 DOID:4022 SNOMEDCT:12818004 NCIT:C123159 MeSH:D014518" @@ -11356,8 +11289,8 @@ "An assay that measures the ability of platelets to aggregate and promote clotting in a sample of blood." "SNOMEDCT:80329005 PMID:34904537" "Selective 2’-hydroxyl acylation analyzed by primer extension sequencing (SHAPE-Seq)" "PMID:21642531" "An atrioventricular valve that is part of the outflow part of the right atrium." "EHDAA:7427 FMA:7234 EHDAA2:0004029 SCTID:181288007 RETIRED_EHDAA2:0002081 MESH:D014261 VHOG:0000816 NCIT:C12805 Wikipedia:Tricuspid_valve EMAPA:17873 GAID:567 UMLS:C0040960 MA:0000090 galen:TricuspidValve" - "A 2-oxo aldehyde derived from propanal." "KNApSAcK:C00007562 PMID:19202315 PMID:23543734 Wikipedia:Methylglyoxal PMID:11504881 PMID:23845007 Reaxys:906750 PMID:17103372 PMID:26861824 PMID:10373458 PMID:24168114 KEGG:C00546 PMID:10723098 Beilstein:906750 PMID:20096340 PMID:24040205 CAS:78-98-8 PMID:9506998 PMID:22983866 PMID:15520007" - "A 2-aminooctadecane-1,3-diol having (2S,3R)-configuration." "LIPID_MAPS_instance:LMSP01020001 PMID:7654391 HMDB:HMDB0000269 PMID:17085324 CAS:764-22-7 PMID:7819132 Beilstein:1724230 Reaxys:1724230 KEGG:C00836 KNApSAcK:C00007540 PMID:1817037 MetaCyc:CPD-13612" + "A 2-oxo aldehyde derived from propanal." "KNApSAcK:C00007562 PMID:19202315 PMID:23543734 Wikipedia:Methylglyoxal PMID:11504881 PMID:23845007 Reaxys:906750 PMID:17103372 PMID:26861824 PMID:10373458 PMID:24168114 KEGG:C00546 PMID:10723098 PMID:20096340 PMID:24040205 CAS:78-98-8 PMID:9506998 PMID:22983866 PMID:15520007" + "A 2-aminooctadecane-1,3-diol having (2S,3R)-configuration." "LIPID_MAPS_instance:LMSP01020001 PMID:7654391 HMDB:HMDB0000269 PMID:17085324 CAS:764-22-7 PMID:7819132 Reaxys:1724230 KEGG:C00836 KNApSAcK:C00007540 PMID:1817037 MetaCyc:CPD-13612" "The thin layer of flat cells that line the aorta and form a barrier between circulating blood in the lumen and the rest of the vessel wall." "EFO:0002597 BTO:0000394 MA:0000701 NCIT:C49190 CALOHA:TS-0047 UMLS:C1706824 EMAPA:35134" "The amount of a cytochrome c oxidase assembly factor 7 when measured in blood serum." "The amount of a lysosomal cobalamin transporter ABCD4 when measured in blood serum." @@ -11402,7 +11335,6 @@ "OMIM:114100 MEDGEN:396262 UMLS:C1861967 GARD:9598 MESH:C536276" "derived from Swiss3T3 fibroblasts" "Quantification of the amount of 4-acetylcatechol sulfate (1) in a sample." "PMID:35347128" - "a rare group of blistering autoimmune diseases that affect the skin and mucous membranes." "ICD10CM:L10 MONDO:0006594 ICD10:L10 UMLS:C0030807 Wikipedia:Pemphigus NANDO:1200228 MedDRA:10034280 NCIT:C34909 NCIt:C34909 icd11.foundation:191659986 MEDGEN:45369 ICD9:694.4 GARD:7352 MESH:D010392 MeSH:D010392 DOID:9182 SCTID:65172003" "Quantification of the amount of n-Butyl Oleate in a sample." "PMID:24816252" "A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an organelle within a cell. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane." @@ -11421,7 +11353,6 @@ "46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumors are frequently associated." "Orphanet:325345 SCTID:763683004 GARD:21469 MEDGEN:394582 UMLS:C2697358" "An array reporter created by directly spotting single stranded oligonucleotides on to the array surface." "MO:579" - "Size is a morphology quality which describes a material entity's physical magnitude." "SNOMEDCT:246115007 PATO:0000117 NCIt:C25681" "Quantification of some aspect of lymphocytes, such as function, quantity or composition." "PMID:37596262" "Quantification of the amount of palmitoleoyl-linoleoyl-glycerol (16:1/18:2) [1] in a sample." "PMID:35347128" @@ -11467,7 +11398,7 @@ "A rare squamous cell carcinoma that arises from the scrotum. It has been associated with exposure to environmental and industrial carcinogens. The prognosis depends on the extent of lymph node involvement." "DOID:13159 UMLS:C0349551 SCTID:276860003 MEDGEN:138101 NCIT:C4643" "Any overgrowth syndrome where the cause of the disease is a gain-of-function variant in the AKT3 gene." - "A non-neoplastic polypoid swelling of the vocal cord mucosa. It is usually unilateral and caused by excessive use of the voice." "icd11.foundation:1351291002 MEDGEN:21887 UMLS:C0042929 SCTID:9078005 NCIT:C3440 MONDO:0021420 MedDRA:10047675" + "A non-neoplastic polypoid swelling of the vocal cord mucosa. It is usually unilateral and caused by excessive use of the voice." "icd11.foundation:1351291002 MEDGEN:21887 UMLS:C0042929 SCTID:9078005 MONDO:0021420 MedDRA:10047675 NCIT:C3440" "A male infertility characterized by dirsuption of the process of sperm development from diploid cells into mature haploid spermatozoa." "DOID:0111910 NCIt:C80076 MEDGEN:766708 OMIM:618152 SNOMEDCT:48188009 OMIM:618433 OMIM:618091 OMIM:618420 MONDO:0004983 OMIM:618112 OMIM:618110 DOID:14227 UMLS:C3553794 SNOMEDCT:425558002 OMIM:618086 OMIM:618115 MeSH:D053713 ICD9:606.0 MedDRA:10003883 OMIM:618153 OMIM:618429 OMIM:618341 OMIMPS:258150" "A polychromatiic erythroblast that is Gly-A-positive and CD71-low." "Quantification of GTP cyclohydrolase 1 in a sample." "PMID:29875488" @@ -11512,7 +11443,7 @@ "A dipeptide formed from glycine and L-tryptophan residues." "HMDB:HMDB0028852 Reaxys:92130 CAS:2390-74-1" "Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." "MESH:C535679 NCIT:C131001 MEDGEN:501192 ICD9:743.44 GARD:5701 Orphanet:782 OMIMPS:180500 MedDRA:10059255 UMLS:C3495488 DOID:14686 NORD:1670 SCTID:47507006" "The amount of a anthrax toxin receptor 1 when measured in blood serum." - "A glycosylglucose consisting of two D-glucopyranose units connected by an alpha-(1->4)-linkage." "KNApSAcK:C00001140 PMID:22469630 PMID:22573161 PMID:22246222 PMID:22669197 PMID:22094343 DrugBank:DB03323 PMID:22185612 KEGG:D00044 KEGG:C00208 Reaxys:1292747 PMID:22411612 Beilstein:1292747 KEGG:G00275 PMID:22424089 PMID:22252265 PMID:22529943 PMID:22451670 Wikipedia:Maltose PMID:16332759 PMID:17723085 CAS:69-79-4" + "A glycosylglucose consisting of two D-glucopyranose units connected by an alpha-(1->4)-linkage." "KNApSAcK:C00001140 PMID:22469630 PMID:22573161 PMID:22246222 PMID:22669197 PMID:22094343 DrugBank:DB03323 PMID:22185612 KEGG:D00044 KEGG:C00208 Reaxys:1292747 PMID:22411612 KEGG:G00275 PMID:22424089 PMID:22252265 PMID:22529943 PMID:22451670 Wikipedia:Maltose PMID:16332759 PMID:17723085 CAS:69-79-4" "Inflammation of arteries in the central nervous system that occurs in patients with acquired immunodeficiency syndrome or aids-related opportunistic infections." "MESH:D020943 UMLS:C0752330 MEDGEN:156263 MONDO:0005695 DOID:524 MeSH:D020943" "An infectious disease produced by bacteria of the genus Bartonella." "ICD10CM:A44 UMLS:C0004771 MONDO:0005664 MEDGEN:504 SCTID:266123003 DOID:11102 ICD9:088.0 NCIT:C84586 MESH:D001474 MedDRA:10004145 icd11.foundation:1938462328 MeSH:D001474" "OBSOLETE. A renal or urinary tract malformation that is part of a larger syndrome." "Orphanet:93547" @@ -11539,7 +11470,7 @@ "The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove." "UMLS:C1135812 SNOMEDCT_US:263029007" "Quantification of the amount of 4-acetylcatechol sulfate (2) in a sample." "PMID:35347128" - "An amino sulfonic acid that is the 2-amino derivative of ethanesulfonic acid. It is a naturally occurring amino acid derived from methionine and cysteine metabolism. An abundant component of fish- and meat-based foods, it has been used as an oral supplement in the treatment of disorders such as cystic fibrosis and hypertension." "PMID:16444816 KNApSAcK:C00048188 PMID:11162030 PMID:27334436 PMID:11842876 PMID:9635063 PMID:17053427 PMID:15780050 PMID:19309105 PMID:19074966 DrugBank:DB01956 PMID:10098958 PMID:11931837 PMID:2370482 PMID:17081118 PMID:3106924 HMDB:HMDB0000251 PDBeChem:TAU PMID:10827156 MetaCyc:TAURINE PMID:19940987 PMID:17997039 PMID:12297216 PMID:2122710 Drug_Central:4486 PMID:27291853 PMID:27345710 PMID:15911239 Reaxys:1751215 PMID:6198473 PMID:27471162 PMID:8818047 PMID:14992292 PMID:8692051 PMID:10349454 PMID:16923232 KEGG:C00245 CAS:107-35-7 PMID:18171928 PMID:12834252 PMID:16169526 PMID:27380030 PMID:12499349 KEGG:D00047 Wikipedia:Taurine PMID:15503229 PMID:27412799 PMID:11918831 PMID:7588651 PMID:21761941 PMID:17875433 PMID:24027187 PMID:3393260 PMID:27535560 PMID:18060526 PMID:2494044 PMID:22770225 Gmelin:82121 Beilstein:1751215 PMID:10325611 PMID:19212411" + "An amino sulfonic acid that is the 2-amino derivative of ethanesulfonic acid. It is a naturally occurring amino acid derived from methionine and cysteine metabolism. An abundant component of fish- and meat-based foods, it has been used as an oral supplement in the treatment of disorders such as cystic fibrosis and hypertension." "PMID:16444816 KNApSAcK:C00048188 PMID:11162030 PMID:27334436 PMID:11842876 PMID:9635063 PMID:17053427 PMID:15780050 PMID:19309105 PMID:19074966 DrugBank:DB01956 PMID:10098958 PMID:11931837 PMID:2370482 PMID:17081118 PMID:3106924 HMDB:HMDB0000251 PDBeChem:TAU PMID:10827156 MetaCyc:TAURINE PMID:19940987 PMID:17997039 PMID:12297216 PMID:2122710 Drug_Central:4486 PMID:27291853 PMID:27345710 PMID:15911239 Reaxys:1751215 PMID:6198473 PMID:27471162 PMID:8818047 PMID:14992292 PMID:8692051 PMID:10349454 PMID:16923232 KEGG:C00245 CAS:107-35-7 PMID:18171928 PMID:12834252 PMID:16169526 PMID:27380030 PMID:12499349 KEGG:D00047 Wikipedia:Taurine PMID:15503229 PMID:27412799 PMID:11918831 PMID:7588651 PMID:21761941 PMID:17875433 PMID:24027187 PMID:3393260 PMID:27535560 PMID:18060526 PMID:2494044 PMID:22770225 Gmelin:82121 PMID:10325611 PMID:19212411" "Fusarium graminearum (teleomorph Gibberella zeae) is a plant pathogen which causes fusarium head blight and affects many cereal crops." "SNOMEDCT:11090009" "The amount of a fibroblast growth factor 3 when measured in blood serum." "The amount of a formylglycine-generating enzyme when measured in blood." "PMID:37794183" @@ -11622,7 +11553,6 @@ "Percentage of immature platelets" "A basal ganglia disorder characterized by Parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter." "OMIM:311510 UMLS:C0796195 MEDGEN:208674 GARD:3203 SCTID:716107009 DOID:0111781 icd11.foundation:937544163 MESH:C537179 Orphanet:2379" - "Dedifferentiated liposarcoma (DDLS) is a high-grade subtype of liposarcoma (LS) that progresses from well-differentiated liposarcoma (WDLS), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS." "GARD:19720 DOID:0080531 Orphanet:99970 MONDO:0020563 ONCOTREE:DDLS NCIT:C3704 ICD10:C49.9 EFO:0003085 SCTID:404072004 ICD9:171.9 MEDGEN:60028 ICDO:8858/3 UMLS:C0205824" "DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM, see this term) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes." "ICD10:P70.2 OMIM:606176" "Autosomal recessive form of spondyloepiphyseal dysplasia tarda." "MESH:C564797 GARD:15237 MEDGEN:338604 DOID:0112293 UMLS:C1849054 OMIM:271600" "The determination of the amount of ATP-dependent rna helicase ddx19b in a sample" "PMID:28240269" @@ -11807,7 +11737,6 @@ "A dicarboxylic acid monoanion that is the conjugate base of 2-(2-carboxyethyl)-4-methyl-5-propylfuran-3-carboxylic acid." "A epithelial neoplasm that involves the anal canal." "Orphanet:424010 GARD:21771 MEDGEN:1842505 UMLS:C5681209" - "Inflammation of the GASTRIC MUCOSA, a lesion observed in a number of unrelated disorders." "HP:0005263 MONDO:0004966 MEDGEN:4843 UMLS:C0017152 ICD9:535.40 MESH:D005756 SNOMEDCT:4556007 icd11.foundation:1871672644 ICD9:535.00 SCTID:4556007 ICD9:535.01 ICD9:535.41 MedDRA:10017853 ICD9:535.4 ICD9:535.0 NCIt:C26780 MeSH:D005756 DOID:4029 NCIT:C26780 ICD10:K29" "An inherited susceptibility or predisposition to developing migraines without aura." "NCIT:C117004 MESH:D020326 OMIM:607501 ICD9:346.1 MEDGEN:336040 SCTID:56097005 HP:0002083 UMLS:C1843773" "Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet)." "MESH:C537446 SCTID:763743003 Orphanet:1891 UMLS:C1855501 OMIM:246555 MEDGEN:340888 GARD:3523" "A disorder characterized by recurrent episodes of binge-eating over which the individual feels a lack of control; these episodes of binge-eating are followed by recurrent compensatory behavior to prevent weight gain, usually self-induced vomiting. In addition, self-evaluation is unduly influenced by body image." "SCTID:78004001 DOID:12129 OMIM:610269 MESH:D052018 ICD10CM:F50.2 MESH:D002032 NCIT:C34440 icd11.foundation:509381842 MONDO:0005452 NCIT:C97162 ICD9:307.51 SNOMEDCT:78004001 MedDRA:10006550 MEDGEN:389218 UMLS:C2267227 NCIt:C34440 MeSH:D052018" @@ -11824,6 +11753,7 @@ "A carcinoma which has spread from the original site of growth to another anatomic site." "NCIT:C3482 ICDO:8010/6 MEDGEN:235141 UMLS:C1384494" "The process in which D-glucose is transported across a membrane." + "A computer is an instrument which manipulates (stores, retrieves, and processes) data according to a list of instructions."@en "NCIt:C16464 MO:510 SNOMEDCT:706692004" "A computer is an instrument which manipulates (stores, retrieves, and processes) data according to a list of instructions." "NCIt:C16464 MO:510 SNOMEDCT:706692004" "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a camptothecin stimulus." "An adenocarcinoma arising from the thyroid gland showing only limited evidence of follicular cell differentiation. Microscopically, the adenocarcinoma cells are arranged in insular, solid, and trabecular patterns. There is associated necrosis, and vascular invasion. The prognosis depends on the tumor stage, complete or partial surgical removal of the tumor, and the degree of response to radioactive iodine therapy (adapted from WHO Tumors of Endocrine Organs, IARC Press, Lyon 2004)" "MONDO:0006382 MEDGEN:266094 UMLS:C1266050 ICDO:8337/3 ONCOTREE:THPD NCIT:C6040 EFO:1000489" @@ -11857,7 +11787,7 @@ "This condition is caused by diffuse hypertrophy and hyperplasia of the smooth muscle of the antrum of the stomach and pylorus. It usually occurs in infants aged 2-8 weeks. The pyloric muscle hypertrophy results in narrowing of the pyloric canal, which can then become easily obstructed. Genetic studies have identified susceptibility loci for infantile hypertrophic pyloric stenosis (IHPS) and molecular studies have concluded that smooth muscle cells are not properly innervated in this condition." "MESH:D046248 DOID:12638 NCIT:C98952 ICD9:750.5 SCTID:48644003 ICD10CM:Q40.0 MONDO:0001560" "A posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality." "MEDGEN:68625 MeSH:D006551 Orphanet:2140 MONDO:0005711 DOID:3827 NCIT:C98893 NANDO:1200911 MESH:D065630 MedDRA:10019914 UMLS:C0235833 MedDRA:10010439 GARD:1481 MESH:D006551 NANDO:2200210 OMIMPS:142340 MedDRA:10020024 NANDO:2100040 icd11.foundation:1414428936" "Bruck syndrome is characterized by the association of osteogenesis imperfecta and congenital joint contractures." "GARD:1029 icd11.foundation:1783996418 OMIMPS:259450 MedDRA:10063718 DOID:0060231 ICD9:733.99 Orphanet:2771 MEDGEN:609420 UMLS:C0432253 SCTID:254113006" - "Inflammation of the colon." "MedDRA:10009887 NCIT:C26723 MedDRA:10009902 MESH:D003092 ICD9:558.9 MEDGEN:40385 HP:0002583 MONDO:0005292 DOID:0060180 SNOMEDCT:64226004 UMLS:C0009319 NCIt:C26723 SCTID:64226004 MeSH:D003092" + "Inflammation of the colon." "HP:0002583 MedDRA:10009902 UMLS:C0009319 SNOMEDCT:64226004 SCTID:64226004 MESH:D003092 MONDO:0005292 NCIt:C26723 NCIT:C26723 ICD9:558.9 MeSH:D003092 MEDGEN:40385 MedDRA:10009887 DOID:0060180" "Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated." "OMIM:613444 UMLS:C3150701 GARD:17244 SCTID:733521003 DOID:0060398 MEDGEN:462051 Orphanet:261222" "Intrinsic membrane that arises from embryonic germ layers and grow to surround the developing embryo." "SCTID:362840007 FMA:305915 EHDAA2:0004714 MESH:D005321" "An infectious disease involving a pathogenic inflammatory response in the intestinal mucosa." "DOID:100 ICD10CM:A00-A09 SCTID:266071000 ICD9:008.8 UMLS:C0178238 ICD9:001-009.99 MEDGEN:511728" @@ -11878,8 +11808,6 @@ "White matter structure containing massive numbers of commissural fibers connecting cortical areas in the two cerebral hemispheres. It is subdivided into a genu, a rostrum, a body, and a splenium. (MM)." "FMA:86464 NCIT:C12446 EMAPA:35253 neuronames:191 GAID:683 MESH:D003337 MBA:776 MAT:0000286 UMLS:C0010090 DHBA:10561 BAMS:CC VHOG:0001608 EV:0100305 EFO:0001390 MA:0000188 BIRNLEX:1087 Wikipedia:Corpus_callosum CALOHA:TS-0180 BAMS:cc SCTID:362354006 MIAA:0000286 BTO:0000615 BM:Tel-CC HBA:9222" "Spastic paraplegia-neuropathy-poikiloderma syndrome is a complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992." "MESH:C536870 UMLS:C1866851 MEDGEN:355814 Orphanet:2821 GARD:4921 OMIM:182815" "ICD10:Q87.8" - "A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies." "SCTID:240849009 UMLS:C0024759 MONDO:0005838 DOID:1081 MESH:D008368 icd11.foundation:1504434405 MEDGEN:6213 Orphanet:2459 ICD10CM:B74.4 NCIT:C84882 GARD:8216 MeSH:D008368" - "A schistosomiasis that involves parasitic infection of the brain and spinal cord by Schistosoma haematobium, Schistosoma mansoni or Schistosoma japonicum causing acute or subacute myelopathy, focal central nervous system impairment, seizures and increased intracranial pressure." "UMLS:C0752191 DOID:13722 icd11.foundation:446216876 MESH:D020818 MEDGEN:155718 MONDO:0005874 MeSH:D020818" "Inflammation of the plantar fascia (aponeurosis) on the bottom of the foot causing heel pain. The etiology of plantar fasciitis remains controversial but is likely to involve a biomechanical imbalance. Though often presenting along with HEEL SPUR, they do not appear to be causally related." "MedDRA:10035155 MeSH:D036981" "Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications." "GARD:21394 MEDGEN:1842780 Orphanet:314889 UMLS:C5679902" @@ -11915,7 +11843,7 @@ "Orphanet:3323 UMLS:C2931364 MESH:C536898 MEDGEN:419058" "UMLS:C2749936 OMIM:611225 ICD10:G11.4" "An occlusion of the retinal vasculature." "NCIT:C34980 ICD10CM:H34 SCTID:73757007 UMLS:C0035326 ICD9:362.30 MEDGEN:19762 ICD9:362.3 DOID:1729" - "An N-acetyl-amino acid that is the N(alpha)-acetyl derivative of citrulline." "Reaxys:2215792 PMID:4107635 Beilstein:2215792" + "An N-acetyl-amino acid that is the N(alpha)-acetyl derivative of citrulline." "Reaxys:2215792 PMID:4107635" "The amount of a RING finger protein 141 when measured in blood serum." "OMIM:619094 UMLS:C5436791 DOID:0112163 MEDGEN:1776221" "ICD10:Q87.8" @@ -11927,7 +11855,7 @@ "A syndrome characterized by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localized to the q1-21 region of the X chromosome." "MESH:C564495 SCTID:721087008 MEDGEN:375620 GARD:16750 UMLS:C1845285 OMIM:300519 Orphanet:85321 DOID:0060830" "A rare benign adipose tissue neoplasm of the liver." "NCIT:C5750 UMLS:C1333970 MEDGEN:232277 DOID:10190" - "A homodetic cyclic tetrapeptide made up from L-alanyl, D-alanyl, L-prolyl and 2-amino-8-oxo-9,10-epoxydecanoyl residues." "PMID:3918884 PMID:9917303 PMID:12297630 PMID:10671527 PMID:15283467 Reaxys:4729824 PMID:19737099 CAS:83209-65-8 PMID:18230731 PMID:16839576 Beilstein:4729824 Patent:EP2194061 KEGG:C15676 PMID:18074352 PMID:18262346 MeSH:C037654" + "A homodetic cyclic tetrapeptide made up from L-alanyl, D-alanyl, L-prolyl and 2-amino-8-oxo-9,10-epoxydecanoyl residues." "PMID:3918884 PMID:9917303 PMID:12297630 PMID:10671527 PMID:15283467 Reaxys:4729824 PMID:19737099 CAS:83209-65-8 PMID:18230731 PMID:16839576 Patent:EP2194061 KEGG:C15676 PMID:18074352 PMID:18262346 MeSH:C037654" "A B cell of distinct lineage and surface marker expression. B-1 B cells are thought to be the primary source of natural IgM immunoglobulin, that is, IgM produced in large quantities without prior antigenic stimulation and generally reactive against various microorganisms, as well as the source of T-independent IgA immunoglobulin in the mucosal areas. These cells are CD43-positive." "Quantification of hephaestin-like protein 1 in a sample." "PMID:29875488" "A benign, borderline, or malignant epithelial tumor of the female reproductive system characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells." "DOID:3001 MONDO:0002480 UMLS:C0474809" @@ -11940,7 +11868,7 @@ "Human B-lymphoblastoid cell line" "RRID:CVCL_A612 BTO:0003106" "A rare adenoma of the adrenal cortex that produces androgens or estrogens." "UMLS:C1710067 MEDGEN:328025 MONDO:0006408 NCIT:C48452 EFO:1000523" "quantification of the amount of C-X-C motif chemokine 11 in a sample" - "A usually aggressive malignant neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." "UMLS:C1333966 MEDGEN:232274 DOID:8022 NCIT:C5832" + "A usually aggressive malignant neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." "UMLS:C1333966 MEDGEN:232274 NCIT:C5832 DOID:8022" "The amount of a COP9 signalosome complex subunit 7b when measured in blood serum." "DOID:0112164 MEDGEN:1726728 OMIM:619095 UMLS:C5436799" @@ -12079,7 +12007,7 @@ "A form of dwarfism caused by complete or partial GROWTH HORMONE deficiency, resulting from either the lack of GROWTH HORMONE-RELEASING FACTOR from the HYPOTHALAMUS or from the mutations in the growth hormone gene (GH1) in the PITUITARY GLAND. It is also known as Type I pituitary dwarfism. Human hypophysial dwarf is caused by a deficiency of HUMAN GROWTH HORMONE during development." "MedDRA:10035083 MONDO:0006909 MEDGEN:8506 SNOMEDCT:367460001 DOID:9405 SCTID:367460001 MeSH:D004393 NCIt:C34555 UMLS:C0013338 MESH:D004393 ICD9:253.3" "OMIM:620732" "SNOMEDCT:63724009" - "A pentitol (five-carbon sugar alcohol) having meso-configuration, being derived from ribose by reduction of the carbonyl group. It occurs naturally in the plant Adonis vernalis." "PMID:24643482 CAS:488-81-3 PMID:17979222 KNApSAcK:C00001171 Wikipedia:Ribitol PMID:16901854 KEGG:C00474 MetaCyc:RIBITOL HMDB:HMDB0000508 Reaxys:1720524 PMID:25108762 PMID:17336832 PMID:23564164 Gmelin:82894 PMID:16664320 PMID:15234337 Beilstein:1720524" + "A pentitol (five-carbon sugar alcohol) having meso-configuration, being derived from ribose by reduction of the carbonyl group. It occurs naturally in the plant Adonis vernalis." "PMID:24643482 CAS:488-81-3 PMID:17979222 KNApSAcK:C00001171 Wikipedia:Ribitol PMID:16901854 KEGG:C00474 MetaCyc:RIBITOL HMDB:HMDB0000508 Reaxys:1720524 PMID:25108762 PMID:17336832 PMID:23564164 Gmelin:82894 PMID:16664320 PMID:15234337" "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy." "GARD:9442 MedDRA:10053250 NANDO:2200539 MESH:D006010 NANDO:1201019 UMLS:C0017922 MEDGEN:6641 NANDO:1200826 DOID:2748 Orphanet:366 SCTID:66937008 NCIT:C84736 OMIM:232400 NANDO:1200844" "Any azoospermia in which the cause of the disease is a mutation in the SLC26A8 gene." "UMLS:C4721889 DOID:0070168 OMIM:606766 GARD:18399 MEDGEN:1648302 MESH:C564665" @@ -12181,7 +12109,7 @@ "The determination of the amount of methyl-cpg-binding domain protein 4 in a sample" "PMID:28240269" - "A DNA sequencing by synthesis assay that identifiies the sequnece of billions of DNA molecules immobilized to a surface using DNA polymerase and fluorescently labeled nucleotides added one at a time. The sequencing process does not require an amplification step and is typically able to produce reads of 25 base pair length." + "A DNA sequencing by synthesis assay that identifiies the sequnece of billions of DNA molecules immobilized to a surface using DNA polymerase and fluorescently labeled nucleotides added one at a time. The sequencing process does not require an amplification step and is typically able to produce reads of 25 base pair length."@en "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" "Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip." "SNOMEDCT_US:710234009 UMLS:C0264169" "The amount of a ubiquitin-conjugating enzyme E2 G1 when measured in blood serum." @@ -12318,7 +12246,7 @@ "The determination of the amount of fatty acid-binding protein, epidermal in a sample" "PMID:28240269" "BBS7 is an autosomal recessive disorder characterized by retinitis pigmentosa, postaxial polydactyly, intellectual disability, obesity, renal anomalies, and hypogenitalism (Harville et al., 2010). Zaghloul and Katsanis (2009) estimated the contribution of BBS7 gene mutations to the total BBS mutational load to be 1.50%." "Orphanet:118990 OMIM:615984" "The amount of a PH and SEC7 domain-containing protein 1 when measured in blood serum." - "A heart disorder in which the pericardial sac becomes thickened and fibrotic, tightening the myocardium and impeding the normal myocardial function." "MedDRA:10010783 MeSH:D010494 NANDO:2100064 NANDO:2200239 MONDO:0006711 UMLS:C0031048 icd11.foundation:1722995229 HP:0002563 NCIT:C78246 ICD9:423.2 SNOMEDCT:85598007 MEDGEN:18378 DOID:11481 SCTID:85598007 NCIt:C78246 MESH:D010494" + "A heart disorder in which the pericardial sac becomes thickened and fibrotic, tightening the myocardium and impeding the normal myocardial function." "NANDO:2100064 HP:0002563 UMLS:C0031048 MeSH:D010494 ICD9:423.2 MEDGEN:18378 NCIT:C78246 icd11.foundation:1722995229 MONDO:0006711 DOID:11481 SNOMEDCT:85598007 MedDRA:10010783 NCIt:C78246 NANDO:2200239 MESH:D010494 SCTID:85598007" "Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium." "SNOMEDCT_US:30425001 SNOMEDCT_US:203522001 UMLS:C0221204" "Orphanet:325529 UMLS:C5680948 GARD:21474 MEDGEN:1842170" @@ -12504,7 +12432,6 @@ "The amount of a casein kinase I isoform gamma-2 when measured in blood serum." "A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)" "icd11.foundation:470731247 MESH:D008342 GARD:19980 Orphanet:155899 MedDRA:10051456" - "A hypermetabolic syndrome caused by the elevation of thyroid hormone levels in the serum. Signs and symptoms include tachycardia, palpitations, tremor, weight loss, warm weather intolerance, and moist skin. Causes include Graves disease, toxic nodular goiter, toxic thyroid nodule, and lymphocytic thyroiditis. [ NCI ]" "UMLS:C0040156 SCTID:90739004 ICD9:242 ICD9:242.90 NCIt:C61469 MESH:D013971 MedDRA:10043789 MEDGEN:11814 NCIT:C61469 DOID:7997 icd11.foundation:1470387017 MONDO:0010138 ICD9:242.80" "An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism." "MEDGEN:151769 MeSH:D050031 Orphanet:855 UMLS:C0677607 MedDRA:10019167 NCIT:C27191 NANDO:2200335 MESH:D050031 DOID:7188 ICD9:245.2 NCIt:C38766 MONDO:0007699 NCIt:C27191 icd11.foundation:972507934 ICD10CM:E06.3 OMIM:140300 SNOMEDCT:21983002 Wikipedia:Hashimoto's_thyroiditis OMIM:608175" "MeSH:C535301 OMIM:605253 ICD10:G60.0" "An embryonic structure that is the internal layer of the embryonic gut, formed by the recruitment of epiblast cells through the primitive streak." "VHOG:0000751 FMA:85519 EFO:0002574 EHDAA2:0000337 EMAPA:16070 EHDAA:218" @@ -12662,7 +12589,7 @@ "MEDGEN:414420 GARD:15609 MESH:C567802 UMLS:C2751607 OMIM:613055" - "A carbohydrazide obtained by formal condensation between pyridine-4-carboxylic acid and hydrazine." "LINCS:LSM-6682 PMID:445303 Drug_Central:1497 KEGG:C07054 Wikipedia:Isoniazid Reaxys:119374 Gmelin:82804 PMID:18220565 Beilstein:119374 PMID:15013786 DrugBank:DB00951 PMID:19183459 KEGG:D00346 MetaCyc:ISONIAZIDE CAS:54-85-3" + "A carbohydrazide obtained by formal condensation between pyridine-4-carboxylic acid and hydrazine." "LINCS:LSM-6682 PMID:445303 Drug_Central:1497 KEGG:C07054 Wikipedia:Isoniazid Reaxys:119374 Gmelin:82804 PMID:18220565 PMID:15013786 DrugBank:DB00951 PMID:19183459 KEGG:D00346 MetaCyc:ISONIAZIDE CAS:54-85-3" "A cell in vitro that is or has been maintained or propagated as part of a cell culture." "NCIt:C16403 MeSH:D002460 MESH:D002478 MO:562" "Quantification of transferrin receptor protein 1 in a sample." "PMID:29875488" @@ -12884,7 +12811,7 @@ "EV:0300051 MAT:0000402 XAO:1000010" "A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells." "MEDGEN:233228 EFO:1000393 MONDO:0006316 NCIT:C6963 UMLS:C1334953" - "A subdivision of the pectoral complex consisting of the structures in the region of the shoulder joint (which connects the humerus, scapula and clavicle)." "EHDAA2:0001834 SCTID:361103004 EMAPA:17421 GAID:60 MA:0000038 NCIT:C25203 UMLS:C0037004 CALOHA:TS-2229 galen:Shoulder Wikipedia:Shoulder EHDAA:4180 FMA:25202 VHOG:0000342 MESH:D012782 EFO:0003068 EHDAA:6228" + "A subdivision of the pectoral complex consisting of the structures in the region of the shoulder joint (which connects the humerus, scapula and clavicle)." "SCTID:361103004 EMAPA:17421 GAID:60 MA:0000038 NCIT:C25203 UMLS:C0037004 CALOHA:TS-2229 galen:Shoulder Wikipedia:Shoulder EHDAA:4180 FMA:25202 VHOG:0000342 MESH:D012782 EFO:0003068 EHDAA:6228 EHDAA2:0001834" "UMLS:C3806467" "Inflammation of the DENTAL PULP, usually due to bacterial infection in dental caries, tooth fracture, or other conditions causing exposure of the pulp to bacterial invasion. Chemical irritants, thermal factors, hyperemic changes, and other factors may also cause pulpitis." "MESH:D011671 UMLS:C0034103 SNOMEDCT:32620007 ICD10CM:K04.0 MONDO:0006937 icd11.foundation:576344431 MEDGEN:19580 NCIt:C52595 MedDRA:10037463 ICD10:K04.0 SCTID:32620007 ICD9:522.0 MeSH:D011671 DOID:11121" "A rare, aggressive carcinoma that arises from the salivary glands. It is characterized by the presence of a squamous and a glandular epithelial component." "MONDO:0006401 UMLS:C1335894 MEDGEN:277627 NCIT:C35737 EFO:1000514" @@ -13085,7 +13012,7 @@ "The amount of a DnaJ homolog subfamily A member 2 when measured in blood serum." "Aplastic anemia is defined as pancytopenia with a hypocellular marrow." "SNOMEDCT_US:304132006 SNOMEDCT:306058006 ICD10:D61 SNOMEDCT_US:306058006 DOID:12449 NCIt:C2870 OMIM:609135 UMLS:C0002874" "UMLS:C3277849 MEDGEN:479479" - "A choline that is the parent compound of the cholines class, consisting of ethanolamine having three methyl substituents attached to the amino function." "PMID:23733158 PMID:22770225 MetaCyc:CHOLINE PMID:17344490 PMID:12946691 PMID:6420466 CAS:62-49-7 KNApSAcK:C00007298 PMID:23616508 PMID:7590654 KEGG:C00114 PMID:18230680 PMID:18786517 PMID:18204095 PMID:9517478 Beilstein:1736748 PMID:23637565 HMDB:HMDB0000097 ECMDB:ECMDB00097 PMID:23095202 Reaxys:1736748 PMID:17087106 YMDB:YMDB00227 PMID:16210714 Drug_Central:3097 PMID:20446114 PMID:22961562 Wikipedia:Choline PMID:14972364 PMID:10930630 PMID:20038853 PMID:19246089 PMID:12826235 PMID:18786520 PMID:17283071 PDBeChem:CHT Gmelin:324597 DrugBank:DB00122 KEGG:D07690" + "A choline that is the parent compound of the cholines class, consisting of ethanolamine having three methyl substituents attached to the amino function." "PMID:23733158 PMID:22770225 MetaCyc:CHOLINE PMID:17344490 PMID:12946691 PMID:6420466 CAS:62-49-7 KNApSAcK:C00007298 PMID:23616508 PMID:7590654 KEGG:C00114 PMID:18230680 PMID:18786517 PMID:18204095 PMID:9517478 PMID:23637565 HMDB:HMDB0000097 ECMDB:ECMDB00097 PMID:23095202 Reaxys:1736748 PMID:17087106 YMDB:YMDB00227 PMID:16210714 Drug_Central:3097 PMID:20446114 PMID:22961562 Wikipedia:Choline PMID:14972364 PMID:10930630 PMID:20038853 PMID:19246089 PMID:12826235 PMID:18786520 PMID:17283071 PDBeChem:CHT Gmelin:324597 DrugBank:DB00122 KEGG:D07690" "A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has material basis in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO)." "SCTID:720507006 Orphanet:435988 DOID:0060339 GARD:12281 OMIM:616201 UMLS:C4015474 MEDGEN:863911" "Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of NKX2.5 (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment." "MESH:C537647 Orphanet:1627 MEDGEN:419838 SCTID:721158009 GARD:18730 UMLS:C2931574" "Quantification of phenylmethanesulfonyl fluoride in blood plasma." "KEGG COMPOUND:C06747" @@ -13245,7 +13172,7 @@ "A complex fatty acid induction media for yeast. It contains yeast extract, peptone, Tween 40, complete synthetic medium, ammonium sulfate, distilled water and oleic acid as carbon source." "MEDGEN:1763505 OMIM:619058 GARD:16411 UMLS:C5436710 DOID:0070499" - "Portion of primordial embryonic connective tissue of the developing head, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to head connective tissue, bone and musculature in conjunction with cranial neural crest cells." "TAO:0000113 FMA:76622 EHDAA2:0000732 EMAPA_RETIRED:16269 ZFA:0000113 EHDAA:179 EMAPA:16098 EFO:0003492 VHOG:0000332" + "Portion of primordial embryonic connective tissue of the developing head, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to head connective tissue, bone and musculature in conjunction with cranial neural crest cells." "FMA:76622 EHDAA2:0000732 EMAPA_RETIRED:16269 ZFA:0000113 EHDAA:179 EMAPA:16098 EFO:0003492 VHOG:0000332 TAO:0000113" "A glycerophosphocholine that is an alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 36 carbons and 2 double bonds." "Orphanet:268766 GARD:20963" "Prion protein (PrP) systemic amyloidosis, previously known as chronic diarrhea with hereditary sensory and autonomic neuropathy is an extremely rare autosomal dominant disorder reported in three British families, a Japanese and an Italian family (about 16 cases in total). Onset is usually in the fourth decade of life and the course lasts about 20 years. Reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. The disorder is caused by truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid." "UMLS:C4518776 SCTID:733422008 MEDGEN:1377371 Orphanet:397606 GARD:21632" @@ -13253,7 +13180,6 @@ "Beta-thalassemia (BT) major is a severe early-onset form of BT characterized by severe anemia requiring regular red blood cell transfusions." "SCTID:26682008 MEDGEN:283 UMLS:C0002875 GARD:17162 Orphanet:231214 NCIT:C129699 DOID:0080771 ICD9:282.49" "Quantification of the ratio of omega-6 polyunsaturated fatty acid to omega-3 polyunsaturated fatty acid." "PMID:31991592" "Orphanet:268752 GARD:20960" - "Meristem is a plant component consisting of undifferentiated plant issue - the botanical equivalent of animal stem cells." "MAT:0000006 PO:0009013 BTO:0000852 MeSH:D018519" "ICD10:Q82.8" "Quantification of integrin beta-7 in a sample." "PMID:29875488" "Orphanet:1795 UMLS:C4721502 MEDGEN:1648357 GARD:2015 OMIM:170700" @@ -13300,6 +13226,7 @@ "OMIM:619079 UMLS:C5436750 MEDGEN:1737985 DOID:0112154" "The amount of a plexin-B3 when measured in blood serum." "Quantification of BET1-like protein in a sample." "PMID:29875488" + "Characteristics of a person such as education and occupation, used to describe the person's position in stratification systems, access to services, etc." "The amount of a small integral membrane protein 24 when measured in blood serum." "ICD10:L98.8" @@ -13373,7 +13300,6 @@ "Orphanet:544488 UMLS:C5436741 OMIM:619075 GARD:17987 MEDGEN:1775930" "The amount of a GTPase HRas when measured in blood serum." - "A centrifuge is an instrument, generally driven by a motor, that puts an object in rotation around a fixed axis, applying force perpendicular to the axis. The centrifuge works using the sedimentation principle, where the centripetal acceleration is used to separate substances of greater and lesser density." "MO:476 SNOMEDCT:705223003" "A low-grade malignant blood vessel neoplasm. It is characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma." "MEDGEN:569676 SCTID:403981003 Orphanet:157791 NORD:124536 DOID:0080190 GARD:20014 UMLS:C0334538 MESH:D018323 ICDO:9133/1 ICDO:9133/3 SCTID:54124005 NCIT:C3800 ONCOTREE:EHAE ICDO:9130/3" "Congenital bilateral absence of the vas deferens (CAVD) is a condition in which the two vas deferens, male reproductive organs, fail to form properly prior to birth." "the quantification of hydroxy-leucine, a metabolite significantly associated with increased risk of heart failure" @@ -13473,7 +13399,6 @@ "The amount of a macoilin when measured in blood serum." "Quantification of actin-binding LIM protein 3 in a sample." "PMID:29875488" "SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage." "Orphanet:238459 UMLS:C1970344 SCTID:723624008 DOID:0070258 OMIM:603585 GARD:12409 MEDGEN:370234 MESH:C567040" - "A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies." "NANDO:2200645 NCIT:C3446 Orphanet:3002 MeSH:D016553 ICD9:287.31 GARD:5194 MedDRA:10083842 icd11.foundation:364346400 NANDO:1200315 UMLS:C0398650 MedDRA:10021245 MONDO:0008558 MEDGEN:584986 OMIM:188030 DOID:8924 SCTID:2897005" "mouse embryo stage at age 12.5 days" "Quantification of the amount of ursocholate in a sample." "PMID:35347128" "Quantification of the amount of palmitoleoyl-oleoyl-glycerol (16:1/18:1) [2] in a sample." "PMID:35347128" @@ -13538,7 +13463,7 @@ "MEDGEN:98046 DOID:0060946 NANDO:1200215 OMIM:254090 UMLS:C0410179" "Any abnormality of the large intestine." "UMLS:C4025715" "NIH-3T3 cell line stably transfected with insulin receptor cDNA" "BTO:0004245 RRID:CVCL_L990" - "Organ with organ cavity which connects the cavity of the middle ear to the cavity of the pharynx. Examples: There are only two pharyngotympanic tubes, the right and the left pharyngotympanic tubes.[FMA]." "AAO:0000146 VHOG:0001145 MA:0000255 GAID:869 EMAPA:17601 EV:0100359 FMA:9705 Wikipedia:Eustachian_tube XAO:0000213 UMLS:C0015183 AAO:0011016 NCIT:C12500 MESH:D005064" + "Organ with organ cavity which connects the cavity of the middle ear to the cavity of the pharynx. Examples: There are only two pharyngotympanic tubes, the right and the left pharyngotympanic tubes.[FMA]." "AAO:0000146 MA:0000255 GAID:869 EMAPA:17601 EV:0100359 VHOG:0001145 FMA:9705 Wikipedia:Eustachian_tube XAO:0000213 UMLS:C0015183 AAO:0011016 NCIT:C12500 MESH:D005064" "SCTID:710010005 MEDGEN:873772 UMLS:C4040907 GARD:19677 Orphanet:99228" "Quantification of the amount of X-11786--methylcysteine in a sample." "PMID:24816252" "Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation." "MESH:D018981 DOID:5212 SCTID:238049009 ICD9:271.8 GARD:10307 NCIT:C84615 UMLS:C0282577 MEDGEN:76469 Orphanet:137" @@ -13574,10 +13499,10 @@ "Quantification of hepatocyte nuclear factor 4-alpha in a sample." "PMID:29875488" - "Catalysis of the reaction: (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate = fumarate + 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide." "KEGG_REACTION:R04559 Reactome:R-HSA-73828 RHEA:23920 Reactome:R-HSA-73800 MetaCyc:AICARSYN-RXN EC:4.3.2.2" + "Catalysis of the reaction: (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate = fumarate + 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide." "KEGG_REACTION:R04559 Reactome:R-HSA-73828 RHEA:23920 Reactome:R-HSA-73800 MetaCyc:AICARSYN-RXN" "A rare, severe, genetic form of hypophosphatasia (HPP) characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization." "Orphanet:247651 OMIM:241500 UMLS:C0268412 DOID:0110914" - "A tricarboxylic acid trianion, obtained by deprotonation of the three carboxy groups of citric acid." "CAS:126-44-3 KEGG:C00158 Gmelin:4239 Reaxys:1884707 Beilstein:1884707 PDBeChem:FLC" + "A tricarboxylic acid trianion, obtained by deprotonation of the three carboxy groups of citric acid." "CAS:126-44-3 KEGG:C00158 Gmelin:4239 Reaxys:1884707 PDBeChem:FLC" "Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly." "Orphanet:1782 UMLS:C0432262 SCTID:254123002 MEDGEN:98150 MESH:C562973 icd11.foundation:1853176074 ICD9:756.9 GARD:2012 OMIM:224300 NANDO:2201365" "MEDGEN:1841161 UMLS:C5830525 OMIM:620376" @@ -13587,16 +13512,14 @@ "Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations." "ICD9:758.89 icd11.foundation:1182006735 SCTID:698849002 OMIM:614290 UMLS:C0795868 MESH:C538306 Orphanet:3307 GARD:35 MEDGEN:167079" "A type of hyponatremia related to ingestion of the diuretic thiazide" - "Inhaling and exhaling the smoke of tobacco or something similar to tobacco." "DOID:0050742 NCIT:C54203 SNOMEDCT:56294008 ICD9:305.1 NCIt:C54203 icd11.foundation:1699574100 ICD10CM:F17 ICD10:F17 MeSH:D014029 UMLS:C0028043 MESH:D014029 MONDO:0008575 MEDGEN:45086 MedDRA:10057852 MeSH:D012907 SCTID:56294008" "MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" - "An Enterovirus infectious disease that results_in infection, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom paralysis, has_symptom myositis, and has_symptom degeneration of neuronal tissue." "UMLS:C0010246 MESH:D003384 MeSH:D003384 MONDO:0005721 DOID:10545 MEDGEN:1159" "A benign neoplasm that involves the lacrimal gland." "SCTID:92169007 icd11.foundation:1163790602 NCIT:C3621 UMLS:C0154024 MEDGEN:57813 ICD9:224.2" "The presence of stenosis of the renal artery." "SNOMEDCT_US:302233006 SNOMEDCT_US:282664001 Fyler:2634 UMLS:C0035067" "Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities." "OMIM:213980 ICD10:Q87.5" - "Well differentiated human gastric adenocarcinoma cell line." "CLO:0037142 BTO:0002381 RRID:CVCL_1416" + "Well differentiated human gastric adenocarcinoma cell line." "BTO:0002381 RRID:CVCL_1416 CLO:0037142" "OBSOLETE. Adult hypophosphatasia (A-HPP) is a mildform of hypophosphatasia characterized by osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures duringmiddle age, and dental anomalies." "SCTID:20756002 ICD10CM:E83.3 DOID:0110913 Orphanet:247676 OMIM:146300" @@ -13633,7 +13556,7 @@ "The amount of a Rab-interacting lysosomal protein when measured in blood serum." "The amount of a protein NDRG3 when measured in blood serum." - "A non-neoplastic or neoplastic disorder which results from exposure to radiation. Examples of non-neoplastic disorders include dermatitis, enteritis, stomatitis, pneumonitis, and cerebritis. Examples of neoplastic disorders include myelodysplastic syndromes, leukemias, and sarcomas." "UMLS:C1527225 NCIt:C26684 ICD10:L57 MeSH:D000016 Orphanet:521132 MESH:D000016 SCTID:85983004 MEDGEN:734320 GARD:22139 MONDO:0043459 NCIT:C26684" + "A non-neoplastic or neoplastic disorder which results from exposure to radiation. Examples of non-neoplastic disorders include dermatitis, enteritis, stomatitis, pneumonitis, and cerebritis. Examples of neoplastic disorders include myelodysplastic syndromes, leukemias, and sarcomas." "UMLS:C1527225 NCIt:C26684 MeSH:D000016 ICD10:L57 Orphanet:521132 MESH:D000016 SCTID:85983004 MEDGEN:734320 GARD:22139 MONDO:0043459 NCIT:C26684" "MEDGEN:338135 OMIM:254100 MESH:C564983 UMLS:C1850840" "The amount of a myocilin when measured in blood." "PMID:37794183" @@ -13646,7 +13569,7 @@ "Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X." "UMLS:C4025649 UMLS:C3494187 SNOMEDCT_US:234440005" "Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated." "MEDGEN:766784 OMIM:614851 DOID:0070011 UMLS:C3553870 GARD:17469 Orphanet:319675" "Immortalized mouse embryonic stem cell line" - "A disease involving the prostate gland." "ICD9:602.8 MEDGEN:10964 ICD9:602.9 ICD10:N42 UMLS:C0033575 MESH:D011469 DOID:47 NCIT:C26865 SCTID:30281009 MONDO:0003105" + "A disease involving the prostate gland." "ICD9:602.8 MEDGEN:10964 ICD9:602.9 ICD10:N42 UMLS:C0033575 DOID:47 MESH:D011469 NCIT:C26865 SCTID:30281009 MONDO:0003105" "Quantification of the amount of X-21285 in a sample." "PMID:35347128" @@ -13673,7 +13596,7 @@ "ICD10:E77.8" "SNOMEDCT:114444007 MeSH:D044082" - "A hexadec-9-enoate that is the conjugate base of palmitoleic acid; major species at pH 7.3." "Gmelin:1789543 Reaxys:6394065 Beilstein:6394065" + "A hexadec-9-enoate that is the conjugate base of palmitoleic acid; major species at pH 7.3." "Gmelin:1789543 Reaxys:6394065" "X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals." "DOID:0110208 MESH:C535302 SCTID:763457000 OMIM:302801 Orphanet:101076 GARD:1243 MEDGEN:336803 UMLS:C1844873" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene." "DOID:0110434 OMIM:611879 UMLS:C2678475 MEDGEN:395631 GARD:15531 MESH:C567506" "UMLS:C1866850 OMIM:182820 MeSH:C536874" @@ -13753,7 +13676,6 @@ "The amount of a ubiquitin-conjugating enzyme E2 Z when measured in blood serum." "UMLS:C5679702 GARD:20880 Orphanet:262905 MEDGEN:1826034" - "Immunologically mediated adverse reactions to medicinal substances used legally or illegally. [ MESH ]" "MeSH:D004342 MESH:D004342 DOID:0060500 MedDRA:10013661 UMLS:C0013182 MEDGEN:41663 MONDO:0000775" "Any disease caused by infection with organisms of the genus Bordetella." "MESH:D001885 MEDGEN:637 ICD9:041.85 SCTID:26484003 UMLS:C0006015" "The amount of a E3 ubiquitin/ISG15 ligase TRIM25 when measured in blood." "PMID:37794183" @@ -13770,7 +13692,6 @@ "DOID:0111238 UMLS:C3809042 MEDGEN:815372 GARD:15938 OMIM:615287" - "Autosomal dominant polycystic kidney disease (ADPKD) is an inherited condition that causes small, fluid-filled sacs called cysts to develop in the kidneys." "OMIM:618061 MONDO:0004691 NANDO:2200153 MeSH:D016891 MedDRA:10036046 ICD9:753.13 OMIM:600666 icd11.foundation:91220434 NORD:828 DOID:898 NCIt:C84578 MEDGEN:88404 UMLS:C0085413 MESH:D016891 GARD:10413 SCTID:765330003 SNOMEDCT:28728008 NANDO:1200368 NCIT:C84578 ICD9:753.12 Orphanet:730" "Skeletal tissue with a collagen-rich extracellular matrix vascularized, mineralized with hydroxyapatite and typically including osteocytes located in lacunae that communicate with one another by cell processes (in canaliculi). Bone is deposited by osteoblasts." "ZFA:0005621 EMAPA:35179 MA:0002780 MESH:D001842 UMLS:C0391978 NCIT:C13076 XAO:0004040 Wikipedia:Bone_tissue VSAO:0000047 FMA:224804 galen:BoneTissue CALOHA:TS-2011" "Medulloblastoma (aka D721), surgical resection from a patient with medulloblastoma as described by Darrell Bigner (1997)" @@ -13873,9 +13794,7 @@ "OMIM:618356 MEDGEN:1674767 UMLS:C5193049" "icd11.foundation:679333287 Orphanet:156252" - "A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (BASAL GANGLIA)" "MeSH:D020144 UMLS:C0751739 MEDGEN:148381 MONDO:0006505 DOID:10991 MESH:D020144" "Quantification of palmitoyl-arachidonoyl-glycerophosphocholine (2) in a sample." - "A unit which is a standard measure of the flow of electric charge." "A carcinoma that arises from epithelial cells of the exocrine pancreas" "SCTID:372142002 UMLS:C0235974 DOID:4905 OMIM:260350 NCIT:C3850 MONDO:0005192 EFO:0002618 MEDGEN:65917" "The result of a measurement of circulating antibodies specific to a streptococcus antigen." "PMID:37164013" "The result of a measurement of circulating antibodies specific to a lactobacillus antigen." "PMID:37164013" @@ -13932,7 +13851,7 @@ "icd11.foundation:151252460 Orphanet:268392 MEDGEN:743641 GARD:20955 UMLS:C1960883 ICD9:741.91 SCTID:425687007" "The amount of a plexin-B1 when measured in blood." "PMID:34857772" - "An ethanolamine compound having a (4-carbamoylmethylphenoxy)methyl group at the 1-position and an N-isopropyl substituent." "Wikipedia:Atenolol PMID:9813739 CAS:29122-68-7 Patent:DE2007751 Patent:US3836671 DrugBank:DB00335 Reaxys:2739235 LINCS:LSM-4355 VSDB:2965 Drug_Central:255 HMDB:HMDB0001924 PMID:23581644 Patent:US3663607 KEGG:D00235 Gmelin:2179742 Beilstein:2739235" + "An ethanolamine compound having a (4-carbamoylmethylphenoxy)methyl group at the 1-position and an N-isopropyl substituent." "Wikipedia:Atenolol PMID:9813739 CAS:29122-68-7 Patent:DE2007751 Patent:US3836671 DrugBank:DB00335 Reaxys:2739235 LINCS:LSM-4355 VSDB:2965 Drug_Central:255 HMDB:HMDB0001924 PMID:23581644 Patent:US3663607 KEGG:D00235 Gmelin:2179742" "The amount of a smad nuclear-interacting protein 1 when measured in blood serum." "Human pancreatic tubular adenocarcinoma derived from metastasis in the liver of a 73-year-old male Japanese patient." "RRID:CVCL_3172 CLO:0037114 BTO:0003493" @@ -13997,7 +13916,7 @@ "Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." "OMIM:216411 OMIM:610758 ICD10:Q87.1 DOID:2962 UMLS:C0009207 MedDRA:10009835 MeSH:D003057 OMIM:610756 OMIM:133540 OMIM:214150 OMIM:216400 OMIM:278780" "Quantification of 39S ribosomal protein L52, mitochondrial in a sample." "PMID:29875488" "An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement." "MedDRA:10020718 MEDGEN:43784 SNOMEDCT:76197007 UMLS:C0020507 NCIt:C3113 MONDO:0005043 MeSH:D006965 NCIT:C3113 MESH:D006965" - "A carcinoma that arises from glandular epithelial cells of the prostate gland" "NCIT:C2919 OMIM:176807 DOID:2526 MONDO:0005082 SCTID:399490008 EFO:0000673 UMLS:C0007112 ONCOTREE:PRAD MEDGEN:764" + "A carcinoma that arises from glandular epithelial cells of the prostate gland" "OMIM:176807 NCIT:C2919 DOID:2526 MONDO:0005082 SCTID:399490008 EFO:0000673 UMLS:C0007112 ONCOTREE:PRAD MEDGEN:764" "MeSH:D012763 SNOMEDCT:85729005 NCIt:C86746 ICD9:004.1" "Peripartum cardiomyopathy is a rare disorder in which a pregnant woman's heart becomes weakened and enlarged. It develops during the last month of pregnancy, or within 5 months after the baby is born. Cardiomyopathy occurs when there is damage to the heart. As a result, the heart muscle becomes weak and does not pump well. This affects the lungs, liver, and other body systems.\n\nPeripartum cardiomyopathy is a form of dilated cardiomyopathy in which no other cause of heart weakening can be found.\n\nIt may occur in childbearing women of any age, but it is most common after age 30." "DOID:9997 ICD10CM:O90.3 UMLS:C0877208 SNOMEDCT:62377009 ICD9:674.5 SCTID:62377009 ICD9:674.54 GARD:220 NCIT:C171602 MedDRA:10049430 MEDGEN:163756 Orphanet:563 MONDO:0018920 icd11.foundation:1218807936" "OMIM:620369 UMLS:C5830501 DOID:0081355 MEDGEN:1841137" @@ -14048,7 +13967,7 @@ "An autosomal dominant disorder characterized by intellectual disability, developmental delay, impaired language development, and dysmorphic features including telecanthus, epicanthus, arched eyebrows and low-set ears. Additional features include feeding difficulties, mild cardiac or genitourinary defects, and distal skeletal anomalies." "OMIM:618653" "The determination of the amount of tumor necrosis factor receptor superfamily member 3 in a sample" "PMID:28240269" "An inherited susceptibility or predisposition to developing accelerated tumor formation." "OMIM:614401" - "An organic heterotricyclic compound that is a hexa-oxygenated 6,7-guaianolide isolated fron the roots of Thapsia garganica L., Apiaceae. A potent skin irritant, it is used in traditional medicine as a counter-irritant. Thapsigargin inhibits Ca(2+)-transporting ATPase mediated uptake of calcium ions into sarcoplasmic reticulum and is used in experimentation examining the impacts of increasing cytosolic calcium concentrations." "PMID:10477042 PMID:16874404 PMID:12410314 Reaxys:4649293 Wikipedia:Thapsigargin LIPID_MAPS_instance:LMPR0103410001 KNApSAcK:C00003375 PDBeChem:TG1 CAS:67526-95-8 PMID:20357004 Beilstein:4649293 PMID:24598360 PMID:9014219 PMID:17825049 KEGG:C09561" + "An organic heterotricyclic compound that is a hexa-oxygenated 6,7-guaianolide isolated fron the roots of Thapsia garganica L., Apiaceae. A potent skin irritant, it is used in traditional medicine as a counter-irritant. Thapsigargin inhibits Ca(2+)-transporting ATPase mediated uptake of calcium ions into sarcoplasmic reticulum and is used in experimentation examining the impacts of increasing cytosolic calcium concentrations." "PMID:10477042 PMID:16874404 PMID:12410314 Reaxys:4649293 Wikipedia:Thapsigargin LIPID_MAPS_instance:LMPR0103410001 KNApSAcK:C00003375 PDBeChem:TG1 CAS:67526-95-8 PMID:20357004 PMID:24598360 PMID:9014219 PMID:17825049 KEGG:C09561" "A bony prominence near the extremity of the femur that normally serves as attachment points for hip and thigh muscles[MP,modified]." "Wikipedia:Trochanter FMA:82513 UMLS:C0162370 MA:0002821 NCIT:C33814 AAO:0000897 SCTID:182047004" "ICD10:Q87.8" "A condition of markedly elevated BLOOD PRESSURE with DIASTOLIC PRESSURE usually greater than 120 mm Hg. Malignant hypertension is characterized by widespread vascular damage, PAPILLEDEMA, retinopathy, HYPERTENSIVE ENCEPHALOPATHY, and renal dysfunction." "NCIt:C3118 UMLS:C0020540 MEDGEN:9374 MESH:D006974 MONDO:0006846 MedDRA:10025600 SNOMEDCT:70272006 MeSH:D006974 DOID:10824 SCTID:70272006" @@ -14172,7 +14091,6 @@ "A process whereby a stress state is applied parallel or tangential to a face of the material." "Quantification of the amount of 3-hydroxysebacate in a sample." "PMID:35347128" "Sequencing is restricted to only a relatively short nucleotide sequence from the 3 prime end of the target molecule." - "Reduction of CEREBROSPINAL FLUID pressure characterized clinically by HEADACHE which is maximal in an upright posture and occasionally by an abducens nerve palsy (see ABDUCENS NERVE DISEASES), neck stiffness, hearing loss (see DEAFNESS); NAUSEA; and other symptoms. This condition may be spontaneous or secondary to SPINAL PUNCTURE; NEUROSURGICAL PROCEDURES; DEHYDRATION; UREMIA; trauma (see also CRANIOCEREBRAL TRAUMA); and other processes. Chronic hypotension may be associated with subdural hematomas (see HEMATOMA, SUBDURAL) or hygromas. (From Semin Neurol 1996 Mar;16(1):5-10; Adams et al., Principles of Neurology, 6th ed, pp637-8)" "MESH:D019585 UMLS:C0524812 icd11.foundation:363695674 MedDRA:10049977 SCTID:433691000124104 SNOMEDCT:433691000124104 ICD9:349.89 MEDGEN:141851 MeSH:D019585 DOID:4723 MONDO:0006811" "A progressive neurodegenerative disorder caused by a disruption in the connection between the striatum and the substantia nigra. It is a type of multiple system atrophy (MSA). Signs and symptoms include rigidity, instability, impaired speech, and slow movements." "ICD10CM:G23.2 ICD9:333.0 icd11.foundation:195535779 NCIT:C125695 SCTID:29618004 MEDGEN:124366 OMIMPS:271930 UMLS:C0270733 MESH:D020955 DOID:4751" "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a bupropion stimulus" @@ -14239,7 +14157,6 @@ "The amount of a RNA-binding protein 3 when measured in blood serum." "Nuclear divisions 3-8. The egg cytoplasm contracts producing a clear separation from the vitelline membrane and empty spaces at the anterior and posterior. The cleavage nuclei migrate towards the periphery. Duration at 25 degrees C approximately 40 minutes (25-65 minutes AEL). Temporal ordering number - 70." "FBdv:00005293" "Any syndromic craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene." "Orphanet:672979 OMIM:615314 GARD:18047 UMLS:C3715051 MEDGEN:811568" - "Fractures of the FEMUR HEAD; the FEMUR NECK; (FEMORAL NECK FRACTURES); the trochanters; or the inter- or subtrochanteric region. Excludes fractures of the acetabulum and fractures of the femoral shaft below the subtrochanteric region (FEMORAL FRACTURES)." "MeSH:D006620 MedDRA:10020MedDRA:100 SCTID:263225007 NCIt:C26794 MESH:D006620 MONDO:0005327" "The amount of a retinol-binding protein 2 when measured in blood serum." "The amount of a centrosomal protein 20 when measured in blood serum." "MEDGEN:167111 OMIM:309541 UMLS:C0796208 GARD:13137 MESH:C563136 Orphanet:369962 DOID:0111814" @@ -14335,7 +14252,7 @@ "Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantars are frequently associated." "MEDGEN:1627807 Orphanet:306669 UMLS:C4545231 icd11.foundation:193784690 GARD:21262" "Quantification of beta-defensin 119 in a sample." "PMID:29875488" "Quantification of diethylenetriamine crosslinked with epichlorohydrin in blood plasma." "HMDB:0032216" - "A compound comprising a benzene ring core carrying a carboxylic acid substituent." "DrugBank:DB03793 SNOMEDCT:387350000 PMID:16728954 PMID:17439666 KEGG:C00539 MeSH:D019817 PDBeChem:BEZ Reaxys:636131 Wikipedia:Benzoic_Acid CAS:65-85-0 PPDB:1475 Gmelin:2946 KNApSAcK:C00000207 NCIt:C61646 LINCS:LSM-37118 KEGG:C00180 SNOMEDCT:63318000 YMDB:YMDB02301 Drug_Central:4664 Beilstein:636131 KEGG:D00038 HMDB:HMDB0001870 MetaCyc:BENZOATE PMID:18314336" + "A compound comprising a benzene ring core carrying a carboxylic acid substituent." "DrugBank:DB03793 SNOMEDCT:387350000 PMID:16728954 PMID:17439666 KEGG:C00539 MeSH:D019817 PDBeChem:BEZ Reaxys:636131 Wikipedia:Benzoic_Acid CAS:65-85-0 PPDB:1475 Gmelin:2946 KNApSAcK:C00000207 NCIt:C61646 LINCS:LSM-37118 KEGG:C00180 SNOMEDCT:63318000 YMDB:YMDB02301 Drug_Central:4664 KEGG:D00038 HMDB:HMDB0001870 MetaCyc:BENZOATE PMID:18314336" "An undesired harmful effect resulting from a medication or other intervention such as surgery." "Wikipedia:Adverse_effect MedDRA:10060933 ICD10:T78" "EBV-transformed human lymphoblastoid cell line" "RRID:CVCL_E813" @@ -14354,7 +14271,7 @@ "A malignant germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary." "MEDGEN:235292 DOID:4717 NCIT:C8881 UMLS:C1334581" "Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum FUSOBACTERIA." "MESH:D045825 MeSH:D045825 UMLS:C1258222 MEDGEN:263530 DOID:563 MONDO:0006925" "The amount of a glutathione-specific gamma-glutamylcyclotransferase 2 when measured in blood serum." - "A medium-chain fatty acid anion that is the conjugate base of dodecanoic acid (lauric acid); major species at pH 7.3." "MetaCyc:DODECANOATE KEGG:C02679 Beilstein:3588839 Reaxys:3588839 Gmelin:333430" + "A medium-chain fatty acid anion that is the conjugate base of dodecanoic acid (lauric acid); major species at pH 7.3." "MetaCyc:DODECANOATE KEGG:C02679 Reaxys:3588839 Gmelin:333430" "The amount of a 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase FUT3 when measured in blood." "PMID:37794183" @@ -14394,7 +14311,6 @@ "A primary or metastatic malignant neoplasm that affects the major or minor salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma." "ICD10CM:C08 ICD9:142.8 NCIT:C3811 MEDGEN:65079 UMLS:C0220636 DOID:8850 SCTID:255072001 MESH:D012468" "SCTID:197718007 MEDGEN:226779 UMLS:C1260911" "OMIM:620276 UMLS:C5830326 MEDGEN:1840962" - "Reverse transcription PCR is a process which allow amplification of cDNA during a pcr reaction while the cDNA results from a retrotranscription of messenger RNA isolated from a material entity." "Orphanet:331193" "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. The mitotic count is more than 20 per 10 HPF. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma." "DOID:1798 SCTID:254612002 ICDO:8150/3 ICD10:C25.4 MEDGEN:233070 MONDO:0005893 EFO:0007416 Orphanet:506098 MESH:D018273 UMLS:C1328479 NCIT:C3770 ICD9:157.4 GARD:22056 ICD10CM:C25.4" @@ -14437,7 +14353,7 @@ "Macular coloboma-cleft palate-hallux valgus syndrome is characterized by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive." "MESH:C565686 MEDGEN:341812 OMIM:216800 UMLS:C1857619 Orphanet:91494 GARD:16802 SCTID:722463001" "UMLS:C4751007 Orphanet:324416 MEDGEN:1665387 GARD:21441" "Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia." "DOID:0080778 Orphanet:217371 UMLS:C3278664 MEDGEN:480294 GARD:10593 OMIM:613070" - "An ischemic condition of the brain, producing a persistent focal neurological deficit in the area of distribution of the cerebral arteries." "DOID:3526 ICD9:433.81 ICD9:433.01 ICD9:433.31 MESH:D002544 SCTID:20059004 UMLS:C0007785 SCTID:432504007 MEDGEN:3321 ICD9:434.91 ICD9:433.21 NCIT:C50486" + "An ischemic condition of the brain, producing a persistent focal neurological deficit in the area of distribution of the cerebral arteries." "DOID:3526 ICD9:433.81 ICD9:433.01 ICD9:433.31 MESH:D002544 SCTID:20059004 UMLS:C0007785 SCTID:432504007 MEDGEN:3321 ICD9:433.21 ICD9:434.91 NCIT:C50486" "Death within the first 24 months of life." "UMLS:C1858430 UMLS:C1844947" "A condition characterized by a pattern of right bundle branch block (RBBB) and ST-segment elevation within electrocardiogram (ECG) leads V1-V3. This pattern emerges as a result of a defect in ion channel genes, resulting in abnormal electrophysiological activity in the right ventricle and a propensity to malignant tachyarrhythmias." "DOID:0081340 UMLS:C5830333 MEDGEN:1840969 OMIM:620278" @@ -14532,7 +14448,7 @@ "The amount of a MHC class I histocompatibility antigen, alpha chain E when measured in blood." "PMID:37794183" "Quantification of translation initiation factor eIF-2B subunit alpha in a sample." "PMID:29875488" "The whole period of embryogenesis, from the formation of an egg till its hatch. [ http://www.wormbase.org/db/gene/gene?name=wjc ] " - "The organofluorine compound that is benzene with a fluoro substituent at the 1-position and two nitro substituents in the 2- and 4-positions." "PMID:2420897 PMID:23076500 PMID:15328335 PMID:2176869 Reaxys:398632 PMID:2807957 PMID:10910205 PMID:9326394 Gmelin:564641 PMID:23529340 CAS:70-34-8 Beilstein:398632 PMID:15801672 PMID:23474456 PMID:15696100 PMID:12093520 Wikipedia:1-Fluoro-2,4-dinitrobenzene PMID:3121792 PMID:8248333 PMID:8466279 PMID:17517538 PMID:1854019 PMID:15307184 PMID:10868578 PMID:7900773 PMID:7994925 PMID:24399719 PMID:18827366 PMID:14630357 PMID:18965207 PMID:23286949 PMID:11733853 PMID:17917283 MetaCyc:CPD-8983 PMID:23395695 PMID:23190882 PMID:23199096 PMID:11739495 PMID:2100626 PMID:10570824" + "The organofluorine compound that is benzene with a fluoro substituent at the 1-position and two nitro substituents in the 2- and 4-positions." "PMID:2420897 PMID:23076500 PMID:15328335 PMID:2176869 Reaxys:398632 PMID:2807957 PMID:10910205 PMID:9326394 Gmelin:564641 PMID:23529340 CAS:70-34-8 PMID:15801672 PMID:23474456 PMID:15696100 PMID:12093520 Wikipedia:1-Fluoro-2,4-dinitrobenzene PMID:3121792 PMID:8248333 PMID:8466279 PMID:17517538 PMID:1854019 PMID:15307184 PMID:10868578 PMID:7900773 PMID:7994925 PMID:24399719 PMID:18827366 PMID:14630357 PMID:18965207 PMID:23286949 PMID:11733853 PMID:17917283 MetaCyc:CPD-8983 PMID:23395695 PMID:23190882 PMID:23199096 PMID:11739495 PMID:2100626 PMID:10570824" "A primary or metastatic malignant tumor involving the leptomeninges." "MEDGEN:233153 DOID:6086 NCIT:C8506 UMLS:C1334596" "An autoinflammatory condition following an infection with Group A Beta Hemolytic Streptococcus (GABHS), in which the heart is attacked by antibodies formed in reaction to a recent GABHS infection. Chief anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords, all of which can result in valvular dysfunction." "NCIT:C34882 ICD9:398.90 MESH:D012214 MedDRA:10062110 MEDGEN:20565 DOID:9814 UMLS:C0035439 DOID:0050827 MeSH:D012214 ICD10:I09 MedDRA:10039061 ICD9:398.99 NCIt:C34882 MONDO:0006955 MedDRA:10039060 SCTID:23685000 ICD10:I01 SNOMEDCT:23685000" "Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the KCTD17 gene." "UMLS:C4225341 GARD:16103 MEDGEN:904244 OMIM:616398 DOID:0090036" @@ -14584,7 +14500,6 @@ "a form of allergic contact dermatitis that results from exposure to nickel" "UMLS:C0684345 SNOMEDCT:93419003 SCTID:93419003 MEDGEN:671387 MONDO:0005481" "A moderately firm, benign, encapsulated tumor resulting from proliferation of SCHWANN CELLS and FIBROBLASTS that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of NEUROFIBROMATOSIS 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands (MeSH)." "DOID:962 SNOMEDCT:404029005 SNOMEDCT:89084002 MeSH:D009455 NIFSTD:birnlex_12604 MedDRA:10029267 NCIt:C3272" - "Hypoparathyroidism is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms include abdominal pain, brittle nails, cataracts, dry hair and skin, muscle cramps, tetany, pain in the face, legs, and feet, seizures, tingling sensation, and weakened tooth enamel (in children). It may be caused by injury to the parathyroid glands (e.g. during surgery). Other causes include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism, metabolic alkalosis, DiGeorge syndrome, and type I polyglandular autoimmune syndrome. The goal of treatment is to restore the calcium and mineral balance in the body. [ https://rarediseases.info.nih.gov/diseases/6733/hypoparathyroidism ]" "GARD:6733 icd11.foundation:1708733050 MONDO:0001220 MedDRA:10021041 MEDGEN:6985 ICD10CM:E20 NCIT:C78350 NANDO:2200345 DOID:11199 ICD9:252.1 NANDO:2100124 UMLS:C0020626 NANDO:1200775 SCTID:36976004 MESH:D007011 ICD10:E20" "NCIt:C86861 MeSH:D015011 SNOMEDCT:90530002" "human melanoma cell line from a 56 year old Caucasian male (ATCC HTB-140)" "BTO:0003467 CLO:0003917 RRID:CVCL_0331" "UMLS:C5830312 OMIM:620269 MEDGEN:1840948 DOID:0070403" @@ -14842,13 +14757,12 @@ "The amount of a ATPase GET3 when measured in blood serum." "Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies." "UMLS:CN204041 Orphanet:3231" "Either of the two primary divisions of the trachea that lead respectively into the right and the left lung." "EHDAA:3072 MA:0000436 SAEL:14 BTO:0001340 FMA:7409 XAO:0000121 MAT:0000133 EV:0100041 EMAPA:16849" - "A 2-oxo monocarboxylic acid anion that is the conjugate base of 3-methyl-2-oxovaleric acid, arising from deprotonation of the carboxy group; major species at pH 7.3." "HMDB:HMDB0000491 Reaxys:3904281 KEGG:C03465 Beilstein:3904281" + "A 2-oxo monocarboxylic acid anion that is the conjugate base of 3-methyl-2-oxovaleric acid, arising from deprotonation of the carboxy group; major species at pH 7.3." "HMDB:HMDB0000491 Reaxys:3904281 KEGG:C03465" "MEDGEN:1805655 UMLS:C5676889" "The quantification of sphingomyelin 14:0 levels in a sample." "PMID:23823483" "The amount of a progonadoliberin-1 when measured in blood serum." "The determination of the amount of transketolase in a sample" "PMID:28240269" "DOID:0070501 UMLS:C5436714 GARD:16413 OMIM:619060 MEDGEN:1762514" - "A Nidovirales infectious disease that results_in infection in animals and humans, has_material_basis_in Coronaviridae viruses, which is transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food." "UMLS:C0010078 MEDGEN:40491 MeSH:D003333 DOID:2948 MONDO:0005718" "RGD:1581618" "The amount of a transcription factor Sp6 when measured in blood serum." "Fluorescence-activated cell sorting and deep sequencing" "PMID:26816383" @@ -14869,12 +14783,11 @@ "A disease involving the external ear." "SCTID:49130001 ICD9:380 ICD9:744.47 ICD10CM:H60-H62 DOID:379 ICD9:380.9 MEDGEN:57606 ICD10:H61 UMLS:C0155388 MONDO:0002776 NCIT:C26972" "Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM)." "Orphanet:319547 MEDGEN:928740 UMLS:C4303071" "MEDGEN:1847761 OMIM:620712 UMLS:C5882754" - "Social anxiety disorder (SAD), also known as social phobia, is an anxiety disorder characterized by a significant amount of fear in one or more social situations causing considerable distress and impaired ability to function in at least some parts of daily life." "NCIT:C34927 DOID:11257 MESH:D000072861 MEDGEN:19254 NCIt:C34927 MONDO:0001247 Wikipedia:Social_anxiety_disorder ICD9:300.23 UMLS:C0031572 UMLS:C34927 SCTID:25501002 MeSH:D000072861 MedDRA:10041242" "NCIt:C86294 SNOMEDCT:41468005" "Punched out lesions in the pigmented layer of the retina." "UMLS:C4072866 UMLS:C1844751" "quantification of the parietal cortex, a part of the brain situated in the medial aspect of the cerebral cortex" "PMID:28924203" "An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of an obstruction at any location within the ventricular system that prevents cerebrospinal fluid flowing into the subarachnoid space." "UMLS:C0549423 ICD10CM:G91.1 DOID:14159 NCIT:C116347 ICD9:331.4 MEDGEN:108198 SCTID:230746009" - "An processed material which acquires images of fluorescence (induced with lasers) from labeled molecules on the surface of the microarray chip" "MO:824" + "An processed material which acquires images of fluorescence (induced with lasers) from labeled molecules on the surface of the microarray chip"@en "MO:824" "Head circumference below 2 standard deviations below the mean for age and gender at birth." "UMLS:C2677180 UMLS:C4020749" "MEDGEN:1752734 DOID:0070503 UMLS:C5436720 GARD:16415 OMIM:619062" @@ -14934,7 +14847,6 @@ "The part of the stomodeum between the mouth and the oesophagus." "TGMA:0000132 SAEL:82 EMAPA:16706 WBbt:0003681 EV:0100065 FMA:46688 MFO:0003080 FBbt:00005380 MAT:0000049 TAO:0000056 TADS:0000042 EHDAA:2947 MA:0000432 BTO:0001049" "ICD10:Q87.8 OMIM:600501 OMIM:613266 OMIM:613265 OMIM:277580" "Orphanet:157808 GARD:20015 MESH:C535762 UMLS:C5190522 MEDGEN:1680202" - "Inflammation involving the URETHRA. Similar to CYSTITIS, clinical symptoms range from vague discomfort to painful urination (DYSURIA), urethral discharge, or both." "MESH:D014526 MeSH:D014526 MedDRA:10046492 DOID:1343 SNOMEDCT:31822004 MONDO:0005297 UMLS:C0041976 ICD10:N34 NCIt:C26904 MedDRA:10046480 MEDGEN:52934 ICD9:597.80 NCIT:C26904 SCTID:84619001 HP:0500006 MedDRA:10046491 ICD9:099.40" "A hormonal disorder that occurs when the adrenal glands fail to release adequate amounts of glucocorticoids (cortisol), mineralocorticoids (aldosterone, 11-deoxycorticosterone), and androgens (dehydroepiandrosterone) to meet physiologic needs, despite release of ACTH from the pituitary." "GARD:19802 NCIT:C113172 Orphanet:101958 MedDRA:10052381 UMLS:C3887896 MEDGEN:854614" "UMLS:C0027806 icd11.foundation:172158971 GARD:20975 Orphanet:268865 MEDGEN:14343" "The amount of a meprin A subunit beta when measured in blood." "PMID:37794183" @@ -14955,7 +14867,6 @@ "An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production." "GARD:21314 ICD9:272.8 DOID:3146 MedDRA:10061227 NCIT:C97092 ICD9:272.9 SCTID:267431006 SCTID:402788005 UMLS:C0154251 MEDGEN:57587 Orphanet:309005" "icd11.foundation:1787577133 GARD:20976 Orphanet:268868" "A rare, genetic, syndromic intellectual disability characterized by global developmental delay, early-onset seizures, cerebellar atrophy, osteopenia, nystagmus and dysmorphic facial features, including bitemporal narrowing, prominent forehead, anteverted nares. Dysarthria, dysmetria, ataxic gait, spasticity and dysmorphic features have also been associated." "OMIM:617810 UMLS:C4540520 GARD:17969 MEDGEN:1615160 Orphanet:529665" - "Spontaneously remitting inflammatory condition of the THYROID GLAND, characterized by FEVER; MUSCLE WEAKNESS; SORE THROAT; severe thyroid PAIN; and an enlarged damaged gland containing GIANT CELLS. The disease frequently follows a viral infection." "MEDGEN:21549 NCIT:C35828 MedDRA:10042298 ICD9:245.1 NCIT:C35071 SCTID:428041004 MeSH:D013968 icd11.foundation:1320394379 ICD10CM:E06.1 MESH:D013968 UMLS:C0040149 DOID:7165 MONDO:0006982 NCIt:C35071 SNOMEDCT:38727009" "Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kobner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction." "DOID:0080511 UMLS:C5561924 MEDGEN:1794134 OMIM:131900 ICD9:757.39 Orphanet:79399 SCTID:90496008 GARD:2147" "SNOMEDCT:113796002" @@ -15112,22 +15023,21 @@ "An autosomal recessive disease characterized by multiple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation" "ICD10CM:Q87.8 OMIM:236680 DOID:0050779 OMIM:614120" "Orphanet:99706" - "Primordium of the circular visceral muscle of the trunk. Becomes distinct from the rest of the trunk mesoderm by stage 11 when 2 distinct layers of trunk mesoderm are apparent, the inner of which is the circular visceral muscle primordium. By stage 12, these cells form a palisade consisting of a dorsal row an a ventral row of tightly packed cells. These cells adhere to the anterior and posterior midgut rudiments as they extend. During dorsal closure they spread out to encircle the midgut." "FBbt:00017015" "The amount of a coiled-coil domain-containing glutamate-rich protein 2 (human) when measured in blood." "PMID:37794183" "An immature alpha-beta T-cell that express Egr2. These cells give rise to T cells expressing NK markers." "A condition in which a person loses the ability to hear due to exposure to high intensity sound." "UMLS:C0018781 MESH:D006317 NCIT:C34664 MedDRA:10029500 SNOMEDCT:73415002 MONDO:0013098 SCTID:73415002 ICD9:388.12 MeSH:D006317 MEDGEN:5455" "A filariasis that involves parasitic infection of the skin and eyes caused by the nematode Loa loa, which is transmitted through the bite of a deer fly or mango fly. The disease is characterized by episodic angioedema in the arms and legs, and cyst-like enlargements of the connective tissue around the sheaths of muscle tendons. Dead worms may cause chronic abscesses, which may lead to the formation of granulomatous reactions and fibrosis." "GARD:3283 MedDRA:10024797 ICD9:125.2 MEDGEN:6132 MONDO:0016566 Orphanet:2404 icd11.foundation:709184369 NCIT:C34784 MESH:D008118 ICD10CM:B74.3 SCTID:44250009 DOID:13523 UMLS:C0023968" - "A dipeptide consisting of glycine having an L-cysteinyl attached to its alpha-amino group. It is an intermediate metabolite in glutathione metabolism." "CAS:19246-18-5 KEGG:C01419 PMID:24500895 YMDB:YMDB00690 ECMDB:ECMDB00078 PMID:7492739 Reaxys:1724689 MetaCyc:CYS-GLY HMDB:HMDB0000078 Beilstein:1724689 Gmelin:83158" + "A dipeptide consisting of glycine having an L-cysteinyl attached to its alpha-amino group. It is an intermediate metabolite in glutathione metabolism." "CAS:19246-18-5 KEGG:C01419 PMID:24500895 YMDB:YMDB00690 ECMDB:ECMDB00078 PMID:7492739 Reaxys:1724689 MetaCyc:CYS-GLY HMDB:HMDB0000078 Gmelin:83158" "MEDGEN:1774807 DOID:0050588 OMIM:613155 UMLS:C5436962" "Quantification of dynactin-associated protein in a sample." "PMID:29875488" "A chronic inflammatory process affecting the skin. It is characterized by the presence of white, indurated plaques, epidermal atrophy, and fibrosis of the upper dermis. It usually appears in the vulva and penis." "OMIM:151590 MESH:D018459 Orphanet:33409 UMLS:C0023652 SCTID:25674000 NCIT:C26817 MEDGEN:7338 ICD10CM:L90.0" "An inability to digest lactose." "SNOMEDCT_US:700094005 SNOMEDCT_US:267425008 UMLS:C0022951" - "Inflammation of the gallbladder in the absence of gallstones." "SCTID:19968009 MeSH:D042101 DOID:2828 MEDGEN:82762 NCIT:C35578 MONDO:0006633 MESH:D042101 NCIt:C35578 MedDRA:10000347 UMLS:C0267841" + "Inflammation of the gallbladder in the absence of gallstones." "MeSH:D042101 SCTID:19968009 DOID:2828 MEDGEN:82762 NCIT:C35578 MONDO:0006633 MESH:D042101 NCIt:C35578 MedDRA:10000347 UMLS:C0267841" "Quantification of the amount of down syndrome cell adhesion molecule measurement in a sample." "PMID:36168886" - "A methanesulfonate (mesylate) salt that is the monomesylate salt of imatinib. Used for treatment of chronic myelogenous leukemia and gastrointestinal stromal tumours." "PMID:21333826 PMID:17212133 PMID:19542718 HMDB:HMDB0014757 PMID:16805961 PMID:23462796 PMID:12616857 PMID:15161340 CAS:220127-57-1 Patent:WO2004106326 Patent:WO9903854 Patent:RU2365587 PMID:15727903 PMID:12975485 PMID:19568828 PMID:19508953 PMID:14760091 PMID:18422477 PMID:15601563 PMID:19073506 PMID:15250677 PMID:12669406 Beilstein:10229624 PMID:16570351 Patent:WO2011161689 DrugBank:DB00619 PMID:12047970 PMID:19258052 KEGG:D01441 PMID:16835496 PMID:15059881 Reaxys:10229624 PMID:21084823 PMID:15206509" + "A methanesulfonate (mesylate) salt that is the monomesylate salt of imatinib. Used for treatment of chronic myelogenous leukemia and gastrointestinal stromal tumours." "PMID:21333826 PMID:17212133 PMID:19542718 HMDB:HMDB0014757 PMID:16805961 PMID:23462796 PMID:12616857 PMID:15161340 CAS:220127-57-1 Patent:WO2004106326 Patent:WO9903854 Patent:RU2365587 PMID:15727903 PMID:12975485 PMID:19568828 PMID:19508953 PMID:14760091 PMID:18422477 PMID:15601563 PMID:19073506 PMID:15250677 PMID:12669406 PMID:16570351 Patent:WO2011161689 DrugBank:DB00619 PMID:12047970 PMID:19258052 KEGG:D01441 PMID:16835496 PMID:15059881 Reaxys:10229624 PMID:21084823 PMID:15206509" "a disease located in the placenta" "MONDO:0005917 DOID:780 MeSH:NoID MESH:D010922 SCTID:125586008 ICD9:646.9 UMLS:C0032045 MEDGEN:10781 ICD9:656.70 NCIT:C26857" "A stromal cell found in the lamina propria of the small intestine." "http://orcid.org/0000-0003-4183-8865" "The fibrous, electron-dense layer lying on the nucleoplasmic side of the inner membrane of a cell nucleus, composed of lamin filaments. The polypeptides of the lamina are thought to be concerned in the dissolution of the nuclear envelope and its re-formation during mitosis. The lamina is composed of lamin A and lamin C filaments cross-linked into an orthogonal lattice, which is attached via lamin B to the inner nuclear membrane through interactions with a lamin B receptor, an IFAP, in the membrane." "Wikipedia:Nuclear_lamina NIF_Subcellular:sao1455996588" @@ -15164,7 +15074,6 @@ "ESC derived cell line is a cell line that derives from an embryonic stem cell." "Disorders or diseases associated with puerperium, the six-to-eight-week period immediately after parturition in humans. [database_cross_reference: MeSH:D011644]" "MeSH:D011644 UMLS:C0034040 MESH:D011644 MONDO:0044013 MEDGEN:18758 SCTID:362973001 ICD10:O89 ICD10:O90" - "stromal pigmentation such as that in ochronosis results from chronic irritation. The melanin is in the superficial stroma and the basal layer of the corneal epithelium." "MEDGEN:509791 DOID:12311 SCTID:55031000 ICD9:371.12 UMLS:C0155105 MONDO:0006613" "A tumor derived from branchial epithelium or branchial rests. (Dorland, 27th ed)" "SNOMEDCT:42362005 MeSH:D001935" "Quantification of some aspect of motor function." "PMID: 32355309" "A genetic modification in which a transgene has been inserted into an individual" @@ -15185,7 +15094,7 @@ "Orphanet:530313" "Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective)." "UMLS:C1839758" "UMLS:C5882726 MEDGEN:1847831 OMIM:620636" - "A hydroxycalciol that is calcidiol in which the pro-S hydrogen of calcidiol is replaced by a hydroxy group. It is the active form of vitamin D3, produced fom calciol via hydoxylation in the liver to form calcidiol, which is subsequently oxidised in the kidney to give calcitriol." "DrugBank:DB00136 Reaxys:2227647 PMID:19429426 PMID:23103122 LIPID_MAPS_instance:LMST03020258 PMID:22905919 PMID:6687801 KEGG:C01673 PDBeChem:VDX PMID:20599255 PMID:23144765 KEGG:D00129 Drug_Central:466 PMID:10217585 Wikipedia:Calcitriol MeSH:D002117 NCIt:C330 Beilstein:2227647 MetaCyc:CALCITRIOL PMID:15928596 CAS:32222-06-3" + "A hydroxycalciol that is calcidiol in which the pro-S hydrogen of calcidiol is replaced by a hydroxy group. It is the active form of vitamin D3, produced fom calciol via hydoxylation in the liver to form calcidiol, which is subsequently oxidised in the kidney to give calcitriol." "DrugBank:DB00136 Reaxys:2227647 PMID:19429426 PMID:23103122 LIPID_MAPS_instance:LMST03020258 PMID:22905919 PMID:6687801 KEGG:C01673 PDBeChem:VDX PMID:20599255 PMID:23144765 KEGG:D00129 Drug_Central:466 PMID:10217585 Wikipedia:Calcitriol MeSH:D002117 NCIt:C330 MetaCyc:CALCITRIOL PMID:15928596 CAS:32222-06-3" "A dilated cardiomyopathy which is associated with consumption of large amounts of alcohol over a period of years." "MedDRA:10001616 MeSH:D002310 MESH:D002310 ICD10CM:I42.6 SCTID:83521008 SNOMEDCT:83521008 ICD9:425.5 MEDGEN:2879 MONDO:0006643 NCIT:C53653 ICD10:I42.6 DOID:12935 UMLS:C0007192 NCIt:C53653" "1: The cartilaginous and membranous tube descending from the larynx and branching into the right and left main bronchi. It is kept patent by a series of about twenty transverse horseshoe-shaped cartilages. Called also windpipe.n2: One of a system of minute tubes ramifying throughout the body of a terrestrial arthropod and delivering air to the tissues. Called also tracheal tubule." "FMA:7394 FBbt:00005043 SAEL:111 XAO:0000118 EMAPA:16853 MAT:0000137 EV:0100040 BTO:0001388 EHDAA:3078 MA:0000441 TADS:000315" @@ -15289,6 +15198,7 @@ "A central nervous system embryonal tumor, not otherwise specified arising from the supratentorial region." "NCIT:C6968 SCTID:699318007 UMLS:C1336538 ICD9:209.30 DOID:4791 MEDGEN:234914" "The amount of a Phosphatidylcholine (O-16:1_16:0) when measured in blood serum." "A homogenizer is an instrument for the homogenization of various types of material, such as tissue, plant, food, soil, and many others." "MO:714" + "A homogenizer is an instrument for the homogenization of various types of material, such as tissue, plant, food, soil, and many others."@en "MO:714" "Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." "GARD:12440 MEDGEN:905419 DOID:0050541 UMLS:C4082197 SCTID:715795005 Orphanet:64749" "Chromosomal disorder in which chromosome 6 is affected." "A substance unit equal to a millionth of a mol or 10^[-6] mol." "NCIt:C48509 MO:752 SNOMEDCT:258719008" @@ -15409,7 +15319,7 @@ "quantification of the volume of grey matter in the brain, usuallly through an MRI scan. Grey matter volume is associated with schizophrenia." "A precursor cell destined to differentiate into smooth muscle myocytes." "FMA:84798 NCIt:C33516 ZFA:0009235" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB2 gene." "GARD:9933 MEDGEN:436512 DOID:0110564 MESH:C567277 UMLS:C2675750 OMIM:601544" - "A purine ribonucleoside 5'-monophosphate having hypoxanthine as the nucleobase." "Reaxys:630517 CAS:131-99-7 KNApSAcK:C00007224 KEGG:C00130 MetaCyc:IMP HMDB:HMDB0000175 Gmelin:528845 Beilstein:630517 DrugBank:DB04566 PMID:7877593 PDBeChem:IMP Wikipedia:Inosinic_acid" + "A purine ribonucleoside 5'-monophosphate having hypoxanthine as the nucleobase." "Reaxys:630517 CAS:131-99-7 KNApSAcK:C00007224 KEGG:C00130 MetaCyc:IMP HMDB:HMDB0000175 Gmelin:528845 DrugBank:DB04566 PMID:7877593 PDBeChem:IMP Wikipedia:Inosinic_acid" "OMIM:619303 GARD:16441 DOID:0112330 MEDGEN:1788285 UMLS:C5543328" "Quantification of CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase in a sample." "PMID:29875488" @@ -15433,7 +15343,6 @@ "UMLS:C4280575 UMLS:C1838578" "The amount of a kinesin-like protein KIF1C when measured in blood serum." - "A subtype of epilepsy characterized by seizures that are consistently provoked by a certain specific stimulus. Auditory, visual, and somatosensory stimuli as well as the acts of writing, reading, eating, and decision making are examples of events or activities that may induce seizure activity in affected individuals. (From Neurol Clin 1994 Feb;12(1):57-8)" "MeSH:D020195 UMLS:C0270857 DOID:2548 SCTID:79745005 ICD9:345.10 GARD:18688 NCIt:C85041 MONDO:0017768 icd11.foundation:276807111 NCIT:C85041 MESH:D020195 Orphanet:310 SNOMEDCT:79745005 MEDGEN:75726" "The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome)." "icd11.foundation:1539226250 NCIT:C85053 MedDRA:10056886 NANDO:2201168 NORD:1462 GARD:10335 MEDGEN:44171 NANDO:2200547 Orphanet:579 SCTID:75610003 UMLS:C0023786 DOID:12802" "The amount of a Sterol ester (27:1/18:3) when measured in blood serum." @@ -15519,7 +15428,6 @@ "The amount of a deoxycytidylate deaminase when measured in blood serum." "Quantification of carcinoembryonic antigen-related cell adhesion molecule 1 in a sample." "PMID:29875488" - "A HIV encephalopathy and is_a brain disease that results_in infection in adults located_in brain, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems." "MONDO:0020689 MedDRA:10001510 MEDGEN:177 GARD:8250 MESH:D015526 UMLS:C0001849 ICD9:294.8 SCTID:421529006 NCIT:C2864 MeSH:D015526 NCIt:C2864" "Thymic neuroendocrine carcinoma is a type of thymic epithelial neoplasm displaying evidence of neuroendocrine differentiation." "icd11.foundation:381956131 UMLS:C2210965 SCTID:716653001 GARD:19696 NCIT:C171031 MEDGEN:900590 Orphanet:99869" "A cholesterol ester in which the acyl group contains 20 carbons and 4 double bonds." @@ -15590,14 +15498,14 @@ "A protuberance in front of the gential pore and behind the vent. Mature females have a well developed urogenital papillae whilst in mature males it is poorly developed. Brion et al, 2004." "ZFA:0001118" "Quantification of kelch-like protein 12 in a sample." "PMID:29875488" "The directed movement of substances into, out of or within a lysosome." - "A material entity that has the material sample role" + "A material entity that has the material sample role"@en "ICD10:E78.5 ICD10:E78.4 ICD10:E78.3 ICD10:E78.2 ICD10:E78.1 ICD10:E78.0" "UMLS:C3279774 MEDGEN:481404 OMIM:614079" "Forms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein." "UMLS:C4552294 DOID:0080939 Orphanet:528623 MEDGEN:1812520 OMIM:106100 GARD:22194" "Paralysis of the muscles of the stomach wall resulting in delayed emptying of the gastric contents into the small intestine." "NCIt:C80512 UMLS:C0152020 SCTID:196753007 DOID:11914 MONDO:0006769 MeSH:D018589 MedDRA:10018043 HP:0002578 icd11.foundation:598423727 MEDGEN:101809 SNOMEDCT:235675006 ICD9:536.3 ICD10CM:K31.84 MESH:D018589" "MEDGEN:220902 OMIMPS:209880 UMLS:C1275808" - "KEGG:C15181 HMDB:HMDB0259902 LINCS:LSM-3947 PMID:22056625 Wikipedia:Wortmannin Reaxys:67676 KNApSAcK:C00023672 PMID:28000865 PMID:22524784 PMID:30036994 MetaCyc:CPD-11924 CAS:19545-26-7 PMID:34306363 Beilstein:67676 PMID:25449276 PMID:18703838 PMID:11090628 PMID:28474885 PDBeChem:KWT DrugBank:DB08059 PMID:19805105 PMID:32052028 PMID:22003059 PMID:27375631 PMID:20017609" + "KEGG:C15181 HMDB:HMDB0259902 LINCS:LSM-3947 PMID:22056625 Wikipedia:Wortmannin Reaxys:67676 KNApSAcK:C00023672 PMID:28000865 PMID:22524784 PMID:30036994 MetaCyc:CPD-11924 CAS:19545-26-7 PMID:34306363 PMID:25449276 PMID:18703838 PMID:11090628 PMID:28474885 PDBeChem:KWT DrugBank:DB08059 PMID:19805105 PMID:32052028 PMID:22003059 PMID:27375631 PMID:20017609" "X-linked intellectual disability, Stoll type is characterized by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked." "GARD:19059 UMLS:C4305075 MEDGEN:930744 Orphanet:85326 SCTID:718911005" "The chemical reactions and pathways involving a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar." "UMLS:C0596070" @@ -15666,7 +15574,6 @@ "ICD10:N46" "Diabetic cardiomyopathy is a disorder of the heart muscle in people with diabetes. It can lead to inability of the heart to circulate blood through the body effectively, a state known as heart failure, with accumulation of fluid in the lungs (pulmonary edema) or legs (peripheral edema). Most heart failure in people with diabetes results from coronary artery disease, and diabetic cardiomyopathy is only said to exist if there is no coronary artery disease to explain the heart muscle disorder." "Wikipedia:Diabetic_cardiomyopathy MedDRA:10012647 MeSH:D058065" "DOID:0112063 OMIM:301051 UMLS:C5435745 MEDGEN:1768360" - "Congenital defects of closure of one or more vertebral arches, which may be associated with malformations of the spinal cord, nerve roots, congenital fibrous bands, lipomas, and congenital cysts. These malformations range from mild (e.g., SPINA BIFIDA OCCULTA) to severe, including rachischisis where there is complete failure of neural tube and spinal cord fusion, resulting in exposure of the spinal cord at the surface. Spinal dysraphism includes all forms of spina bifida. The open form is called SPINA BIFIDA CYSTICA and the closed form is SPINA BIFIDA OCCULTA. (From Joynt, Clinical Neurology, 1992, Ch55, p34)" "MONDO:0006995 MeSH:D016135 UMLS:C0080218 MESH:D016135 DOID:1089 ICD9:756.19 NCIT:C99080 SCTID:67531005 NCIT:C101214 NCIt:C99080 ICD9:741 MEDGEN:36387 SCTID:249491000119100" "The amount of a vacuolar protein sorting-associated protein 4B when measured in blood serum." "Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder." "SNOMEDCT_US:249671009 UMLS:C0426790" "OBSOLETE. The directed movement of a cofactor into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A cofactor is a substance that is required for the activity of an enzyme or other protein." @@ -15676,7 +15583,6 @@ "The amount of a glycogen phosphorylase, liver form when measured in blood serum." "Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported." "GARD:19307 Orphanet:96074 UMLS:C4706364 SCTID:763276000 MEDGEN:1641655" - "A enzyme complex of which the core is a heterodimer composed of a light (alpha) and heavy (beta) chain, and requires several other water-soluble proteins of cytosolic origin for activity. Functions in superoxide generation by the NADPH-dependent reduction of O2." "A malignant neoplasm arising from the transitional epithelium, usually affecting the urinary bladder, ureter, or renal pelvis. It may or may not have a papillary configuration. It is graded 1 to 3 or 4 according to the degree of cellular differentiation and architectural patterns. Grade 1 transitional cell carcinoma is histologically benign but it may recur. Transitional cell carcinomas may also affect the upper respiratory tract and the ovaries." "MONDO:0006474 MESH:D002295 DOID:2671 ICDO:8120/3 GARD:7794 NCIT:C6783 MEDGEN:2875 EFO:1000601 UMLS:C0007138 NCIT:C2930 GARD:0007794" "quantification of some aspect of the structure of the left cardiac ventricle such as wall thickness, mass or atrial atero-posterior diameter" "The amount of a endothelial cell-specific chemotaxis regulator when measured in blood." "PMID:37794183" @@ -15733,7 +15639,6 @@ "The determination of the amount of importin subunit alpha-1 in a sample" "PMID:28240269" "A biexponential transformation is a data transformation that, for each (one dimensional) real number input x, outputs an approximation (found, e.g. with the Newton's method) to a solution y of the equation B(y)-x=0, where B denotes a b transformation."@en - "A biexponential transformation is a data transformation that, for each (one dimensional) real number input x, outputs an approximation (found, e.g. with the Newton's method) to a solution y of the equation B(y)-x=0, where B denotes a b transformation." "The amount of a histatin-3 when measured in blood serum." "Quantification of the amount of Sphingomyelin (d18:2/24:1, d18:1/24:2) in a sample." "PMID:35050183" "Dermatocardioskeletal syndrome, Borrone type, is a malformation syndrome characterized by a coarse facies with full lips, severe acne (acne conglobata), mitral valve prolapse, brachydactyly and vertebral abnormalities. The onset of debilitating dermato-cardio-skeletal manifestations has been reported at around puberty. With age and the progression of this disorder, osteolysis, flexion contractures of large joints, gingival hypertrophy and thick skin have been reported." "OMIM:211170 ICD10:Q87.8" @@ -15774,7 +15679,6 @@ "Quantification of the amount of arecaidine in a sample." "PMID:35995766" "The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification)." "Orphanet:262191 UMLS:C4518488 SCTID:726338000 GARD:20842 MEDGEN:1379629" - "An autoimmune blistering disorder. It is characterized by the presence of painful blisters and erosions in the skin and mucous membranes." "GARD:7355 MedDRA:10052802 ICD10CM:L10.0 SCTID:49420001 NCIt:C34910 NANDO:1200229 MESH:C536645 UMLS:C0030809 SNOMEDCT:49420001 MONDO:0008219 MEDGEN:10621 OMIM:169610 DOID:0060851 Wikipedia:Pemphigus_vulgaris NCIT:C34910 Orphanet:704 icd11.foundation:278358681" "The amount of a CMRF35-like molecule 7 when measured in blood serum." "The amount of a tyrosine-protein kinase transmembrane receptor ROR2 when measured in blood serum." @@ -15786,8 +15690,7 @@ "A disease involving the sebaceous gland." "MEDGEN:48599 MONDO:0006607 ICD9:706.1 MESH:D012625 DOID:9098 UMLS:C0036502 SCTID:3441005" "X-linked form of spondyloepimetaphyseal dysplasia." "Orphanet:93349 OMIM:300106 GARD:4979 UMLS:C1848097 MESH:C564714 MEDGEN:376281 DOID:0112150" - "A Paramyxoviridae infectious disease that results_in infection in domestic animals and humans, has_material_basis_in Henipavirus, which is transmitted_by direct contact with the urine, feces, and nasal secretions of an infected animal." "MONDO:0005785 MeSH:D045464 DOID:4393 MESH:D045464" - "A 1,2-benzisothiazole having a keto-group at the 3-position and two oxo substituents at the 1-position. It is used as an artificial sweetening agent." "CAS:81-07-2 PMID:24780866 PMID:24456165 PMID:24549104 Wikipedia:Saccharin Reaxys:6888 MetaCyc:CPD-5581 Beilstein:6888 Gmelin:4203 HMDB:HMDB0029723 PDBeChem:LSA KEGG:D01085 PMID:24739358" + "A 1,2-benzisothiazole having a keto-group at the 3-position and two oxo substituents at the 1-position. It is used as an artificial sweetening agent." "CAS:81-07-2 PMID:24780866 PMID:24456165 PMID:24549104 Wikipedia:Saccharin Reaxys:6888 MetaCyc:CPD-5581 Gmelin:4203 HMDB:HMDB0029723 PDBeChem:LSA KEGG:D01085 PMID:24739358" "A carcinoma without evidence of differentiation arising from the gallbladder. The most common variant is the spindle and giant cell type which resembles a sarcoma." "EFO:1000604 MEDGEN:76010 UMLS:C0279653 MONDO:0006476 NCIT:C9167" "A developmental anomaly characterized by abnormal smallness of both eyes." "UMLS:C1843496 UMLS:C4280421 UMLS:C4280422" "The CH12.LX B cell line derived from the murine CH12 B cell lymphoma." @@ -15931,13 +15834,12 @@ "MEDGEN:419136 UMLS:C2931671 SCTID:726347008 GARD:20849 Orphanet:262638 MESH:C537941" "Mouse embryonic fibroblast cell" - "An acetylspermidine having the acetyl group at the N1-position." "KEGG:C00612 PMID:22770225 CAS:14278-49-0 HMDB:HMDB0001276 Reaxys:4176501 MetaCyc:CPD-568 PMID:8446047 Beilstein:4176501" + "An acetylspermidine having the acetyl group at the N1-position." "KEGG:C00612 PMID:22770225 CAS:14278-49-0 HMDB:HMDB0001276 Reaxys:4176501 MetaCyc:CPD-568 PMID:8446047" "A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis." "GARD:994 MEDGEN:463613 Orphanet:263482 OMIM:184095 SCTID:719204007 DOID:0111553 UMLS:C3159322" "A blood cell of the circulatory system of arthropods." "FBbt:00005063 BTO:0000571" "The amount of a glutathione reductase, mitochondrial when measured in blood." "PMID:37794183" "The chemical reactions and pathways involving ribose phosphate, any phosphorylated ribose sugar." - "Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" "MESH:D008659 NCIt:C3235 MONDO:0005066 DOID:0014667 MEDGEN:44376 SNOMEDCT:75934005 ICD9:277.9 ICD10WHO:E70-E90 SCTID:75934005 ICD10CM:E70-E88 NANDO:1100002 NCIT:C3235 MeSH:D008659 UMLS:C0025517 ICD9:277.8" "Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb)." "MeSH:D017086 NCIt:C34375 UMLS:C0005283 OMIM:613985 ICD10:D56.1 MedDRA:10043391 DOID:12241" "Linear atrophoderma of Moulin (LAM) is characterized by mildly atrophic and hyperpigmented band-like lesions that follow the lines of Blaschko on the trunk or limbs. Since its initial description in 1992, less than 30 cases have been reported in the literature. Onset occurs during childhood or adolescence and the disease is non-progressive. There is no prior inflammation or subsequent scleroderma. The etiology is unknown but as LAM follows the lines of Blaschko it has been suggested that the disease is caused by mosaicism of a predisposing gene." "Orphanet:140933 GARD:19932 icd11.foundation:1116101506 UMLS:C1274753 MEDGEN:698076 SCTID:403395007" @@ -15982,7 +15884,6 @@ "The amount of a MAP6 domain-containing protein 1 when measured in blood serum." "Any process that modulates the frequency, rate or extent of reductions in the diameter of blood vessels." "Kaler-Garrity-Stern syndrome is a rare syndrome, described in two sisters of Mennonite descent, characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992." "SCTID:732954002 GARD:354 UMLS:C1850140 Orphanet:2324 MEDGEN:337979 OMIM:259690 MESH:C537706" - "Chronic inflammatory demyelinating polyneuropathy (CIDP) is a chronic monophasic, progressive or relapsing symmetric sensorimotor disorder characterized by progressive muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins." "ICD10:G61 SCTID:716723000 NANDO:2200905 GARD:18211 SCTID:40956001 MONDO:0007691 Orphanet:2932 MedDRA:10077384 MedDRA:10057645 NANDO:2100251 MEDGEN:901636 UMLS:C4083008 ICD10:G61.8 OMIM:139393 NANDO:1200030" "OMIM:616170 MEDGEN:863808 UMLS:C4015371" "Quantification of some high level aspect of a metabolic network." "PMID:30852652" @@ -15994,7 +15895,7 @@ "Quantification of protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2 in a sample." "PMID:29875488" "The amount of a selenoprotein W when measured in blood serum." "Quantification of rieske domain-containing protein in a sample." "PMID:29875488" - "A member of the class of imidazoles substituted at C-1, -2 and -5 with 2-hydroxyethyl, nitro and methyl groups respectively. It has activity against anaerobic bacteria and protozoa, and has a radiosensitising effect on hypoxic tumour cells. It may be given by mouth in tablets, or as the benzoate in an oral suspension. The hydrochloride salt can be used in intravenous infusions. Metronidazole is a prodrug and is selective for anaerobic bacteria due to their ability to intracellularly reduce the nitro group of metronidazole to give nitroso-containing intermediates. These can covalently bind to DNA, disrupting its helical structure, inducing DNA strand breaks and inhibiting bacterial nucleic acid synthesis, ultimately resulting in bacterial cell death." "DrugBank:DB00916 VSDB:1826 KEGG:D00409 PMID:16304169 PMID:22252819 CAS:443-48-1 HMDB:HMDB0015052 PMID:19485831 PMID:11906111 Beilstein:611683 LINCS:LSM-5628 PMID:14702395 PMID:15739364 PMID:18397330 Patent:US2944061 Wikipedia:Metronidazole PMID:16901452 PDBeChem:2MN Reaxys:611683 PMID:22226009 Drug_Central:1790" + "A member of the class of imidazoles substituted at C-1, -2 and -5 with 2-hydroxyethyl, nitro and methyl groups respectively. It has activity against anaerobic bacteria and protozoa, and has a radiosensitising effect on hypoxic tumour cells. It may be given by mouth in tablets, or as the benzoate in an oral suspension. The hydrochloride salt can be used in intravenous infusions. Metronidazole is a prodrug and is selective for anaerobic bacteria due to their ability to intracellularly reduce the nitro group of metronidazole to give nitroso-containing intermediates. These can covalently bind to DNA, disrupting its helical structure, inducing DNA strand breaks and inhibiting bacterial nucleic acid synthesis, ultimately resulting in bacterial cell death." "DrugBank:DB00916 VSDB:1826 KEGG:D00409 PMID:16304169 PMID:22252819 CAS:443-48-1 HMDB:HMDB0015052 PMID:19485831 PMID:11906111 LINCS:LSM-5628 PMID:14702395 PMID:15739364 PMID:18397330 Patent:US2944061 Wikipedia:Metronidazole PMID:16901452 PDBeChem:2MN Reaxys:611683 PMID:22226009 Drug_Central:1790" "quantification of openness, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)" "PMID:27918536" "The amount of a follitropin subunit beta when measured in blood." "PMID:37794183" "A benign neoplasm that involves the optic choroid." "icd11.foundation:809005353 MEDGEN:57581 NCIT:C3625 SCTID:92059004 UMLS:C0154028 ICD9:224.6" @@ -16067,14 +15968,13 @@ "A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable." "NANDO:2201361 GARD:8754 DOID:0111588 MEDGEN:418969 SCTID:389261002 Orphanet:1426 OMIM:215140 icd11.foundation:1858458540 UMLS:C2931048 MESH:C535858" "The amount of a programmed cell death protein 4 when measured in blood serum." - "Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD but that responds positively to treatment with thiamine." "MEDGEN:199627 NANDO:2201081 UMLS:C0751285 GARD:17266 Orphanet:268184" + "Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD but that responds positively to treatment with thiamine." "MEDGEN:199627 NANDO:2201081 GARD:17266 UMLS:C0751285 Orphanet:268184" "An instance of neuroendocrine neoplasm that is caused by an inherited modification of the individual's genome." "Orphanet:271847 UMLS:CN202530" "A C-nitro compound that is nitrobenzene in which every hydrogen has been replaced by a chlorine. A fungicide used on a variety of crops, including cotton, rice and seed grains, it is no longer approved for use within the European Union." "CiteXplore:IND86085618 SNOMEDCT:83672008 CiteXplore:20022079 CiteXplore:19959285 ChemIDplus:82-68-8 ChEMBL:542755 CiteXplore:7445521 AGR:IND86085618 Wikipedia:Pentachloronitrobenzene PPDB:581 PMID:22112041 Patent:US7629159 NIST Chemistry WebBook:82-68-8 CiteXplore:19298997 KEGG COMPOUND:C14338 PMID:19298997 KEGG:C14338 PMID:3311683 Pesticides:quintozene CiteXplore:20560598 PMID:20131084 PMID:22074892 CAS:82-68-8 Reaxys:1914324 PMID:23454455 PMID:7027636 CiteXplore:22112041 CiteXplore:3311683 PMID:20560598 MeSH:C005805 CiteXplore:19429557 CiteXplore:22074892 PMID:19959285 PMID:18294675 PMID:23474338 CiteXplore:20131084 CiteXplore:18294675 KEGG COMPOUND:82-68-8 PMID:20022079 PMID:7445521 PMID:19429557 CiteXplore:7027636" "A localization-related (focal) form of epilepsy characterized by seizures which arise in the frontal lobe. A variety of clinical syndromes exist depending on the exact location of the seizure focus. Frontal lobe seizures may be idiopathic (cryptogenic) or caused by an identifiable disease process such as traumatic injuries, neoplasms, or other macroscopic or microscopic lesions of the frontal lobes (symptomatic frontal lobe seizures). (From Adams et al., Principles of Neurology, 6th ed, pp318-9)" "UMLS:C0085541 MEDGEN:39074 DOID:3331 SCTID:230394006 MESH:D017034" "Abnormal fluid filled sac within the kidney, either acquired or congenital." "NCIt:C3970" "The amount of a nuclear factor of activated T-cells, cytoplasmic 1 when measured in blood." "PMID:37794183" "A malignant, clinically aggressive astrocytic tumor (glioma) localized in the brain stem. -- 2003" "NCIt:C5097" - "MYCOBACTERIUM infections of the male reproductive tract (GENITALIA, MALE)." "UMLS:C0041317 MONDO:0006845 MedDRA:10061234 MESH:D014389 MeSH:D014389 SNOMEDCT:240379005 MEDGEN:52886 SCTID:240379005 DOID:8024" "SCTID:254221009 GARD:17069 MEDGEN:96594 icd11.foundation:467492754 MESH:C563639 UMLS:C0432335 Orphanet:171719 OMIM:614100" "Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities." "HP:0002748 SCTID:68295002 UMLS:C0035579 MedDRA:10039125 NCIT:C26878 MONDO:0005520 SCTID:41345002 MedDRA:10039124 MeSH:D012279 MedDRA:10039119 MESH:D012279 SNOMEDCT:41345002 DOID:10609 NCIt:C26878 ICD9:268.0 GARD:5700 MEDGEN:48470" @@ -16085,7 +15985,7 @@ "Malignant tumour cell of lymphoblasts derived from B-lymphocytes. Most commonly affects children in tropical Africa: both Epstein-Barr virus and immunosuppression due to malarial infection are involved." "ICD10:N46" - "An optically active form of dopa having L-configuration. Used to treat the stiffness, tremors, spasms, and poor muscle control of Parkinson's disease" "KEGG:C00355 Beilstein:2215169 MetaCyc:L-DIHYDROXY-PHENYLALANINE PMID:23196068 PMID:23206800 PMID:22592937 Drug_Central:1567 Wikipedia:L-DOPA PMID:23389938 LINCS:LSM-5481 PMID:23127496 Reaxys:2215169 PMID:23211937 PDBeChem:DAH_LFOH HMDB:HMDB0000181 PMID:23390548 COMe:MOL000169 DrugBank:DB01235 PMID:8301021 PMID:23357114 Beilstein:6060047 Wikipedia:Levodopa CAS:59-92-7 PMID:18690870 PMID:22491024 PMID:29438107 KNApSAcK:C00001357 PMID:23389842 PMID:23038403 Gmelin:365846 KEGG:D00059" + "An optically active form of dopa having L-configuration. Used to treat the stiffness, tremors, spasms, and poor muscle control of Parkinson's disease" "KEGG:C00355 MetaCyc:L-DIHYDROXY-PHENYLALANINE PMID:23196068 PMID:23206800 PMID:22592937 Drug_Central:1567 Wikipedia:L-DOPA PMID:23389938 LINCS:LSM-5481 PMID:23127496 Reaxys:2215169 PMID:23211937 PDBeChem:DAH_LFOH HMDB:HMDB0000181 PMID:23390548 COMe:MOL000169 DrugBank:DB01235 PMID:8301021 PMID:23357114 Beilstein:6060047 Wikipedia:Levodopa CAS:59-92-7 PMID:18690870 PMID:22491024 PMID:29438107 KNApSAcK:C00001357 PMID:23389842 PMID:23038403 Gmelin:365846 KEGG:D00059" "AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term). It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA; see these terms) restricted to a single organ." "OMIM:254500 UMLS:C0268381 MedDRA:10036673 MeSH:C531616 ICD10:E85.8" "The amount of a calretinin when measured in blood." "PMID:37794183" "The smooth muscle coat of the uterus, which forms the main mass of the organ." "NCIt:C12314 BTO:0000907" @@ -16160,7 +16060,7 @@ "MedDRA:10007982 ICD10:G47.3 MedDRA:10066131 OMIM:209880 UMLS:C1275808" "An atrial heart septal defect type 1 associated with variation in the region 5p." "UMLS:C1862389 MEDGEN:349495 OMIM:108800 DOID:0110106" - "A dioxane with oxygen atoms at positions 1 and 4." "CAS:123-91-1 KEGG:C14440 PMID:20598439 PDBeChem:DIO LINCS:LSM-37087 Reaxys:102551 PMID:18044507 PMID:14550759 Beilstein:102551 Wikipedia:1,4-Dioxane PPDB:1638 DrugBank:DB03316" + "A dioxane with oxygen atoms at positions 1 and 4." "CAS:123-91-1 KEGG:C14440 PMID:20598439 PDBeChem:DIO LINCS:LSM-37087 Reaxys:102551 PMID:18044507 PMID:14550759 Wikipedia:1,4-Dioxane PPDB:1638 DrugBank:DB03316" "A benign or malignant neoplasm that affects the colon. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colonic adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms." "EFO:0004288 MEDGEN:3165 NCIT:C2953 MESH:D003110 UMLS:C0009375 MONDO:0005401" "Inflammation of the periosteum. The condition is generally chronic, and is marked by tenderness and swelling of the bone and an aching pain. Acute periostitis is due to infection, is characterized by diffuse suppuration, severe pain, and constitutional symptoms, and usually results in necrosis. (Dorland, 27th ed)" "HP:0040165 UMLS:C0031111 MESH:D010522 icd11.foundation:505688542 NCIT:C13184 MEDGEN:45816 DOID:9957 SCTID:41910004" @@ -16267,7 +16167,6 @@ "Quantification of retinoblastoma-like protein 1 in a sample." "PMID:29875488" "MEDGEN:1673021 UMLS:C5191008 GARD:20947 Orphanet:268261" "local accumulation of fluid, plasma proteins, and leukocytes in the vagina" "SNOMEDCT:30800001 ICD10:N76 MedDRA:10046916 NCIt:C26911 MP:0003541 MedDRA:10046950 DOID:2170 MeSH:D014627" - "Illumina sequencing is a DNA sequencing which allows sequence identification by relying on use of DNA polymerase and reversible terminator. The methods requires immobilization of genomic DNA fragment onto a surface and a specific clonal amplification step known as bridge PCR. Reliance on reversible terminator allow cycles of DNA chain extension by DNA polymerase and imaging without the need of electrophoretic separation of newly synthesized DNA fragment as with Sanger sequencing." "The amount of a glycodelin when measured in blood." "PMID:37794183" @@ -16326,15 +16225,14 @@ "An abnormality of the pulmonary veins." "UMLS:C0265914 SNOMEDCT_US:199113001 SNOMEDCT_US:111322000 SNOMEDCT_US:128585006" "An assay in which DNA is the input molecule derived from an antibody based selection process using antibodies targeting methylated DNA, which is then sequenced using high throughput sequencing technology." "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" - "A bipyridine in which the two pyridine moieties are linked by a bond between positions C-2 and C-2'." "PMID:32672448 Chemspider:13867714 PMID:24061243 PDBeChem:0BP PMID:20050605 PMID:15998024 PMID:28640600 PMID:32326057 PMID:17744054 PMID:32871080 Gmelin:936807 PMID:33117818 PMID:11749322 PMID:24816017 PMID:31683694 PMID:17497019 Gmelin:3720 Beilstein:113089 MetaCyc:CPD-8819 Wikipedia:2,2%27-Bipyridine PMID:24816007 Reaxys:113089 PMID:33544614 PMID:11564534 CAS:366-18-7" + "A bipyridine in which the two pyridine moieties are linked by a bond between positions C-2 and C-2'." "PMID:32672448 Chemspider:13867714 PMID:24061243 PDBeChem:0BP PMID:20050605 PMID:15998024 PMID:28640600 PMID:32326057 PMID:17744054 PMID:32871080 Gmelin:936807 PMID:33117818 PMID:11749322 PMID:24816017 PMID:31683694 PMID:17497019 Gmelin:3720 MetaCyc:CPD-8819 Wikipedia:2,2%27-Bipyridine PMID:24816007 Reaxys:113089 PMID:33544614 PMID:11564534 CAS:366-18-7" "ICD10:E23.0" "An adenocarcinoma of the stomach arising on a background of intestinal metaplasia. Microscopically, it is characterized by a glandular pattern and it closely resembles a colonic adenocarcinoma. Grossly, it tends to be nodular, polypoid or ulcerated." "NCIT:C9157 UMLS:C0279633 MEDGEN:79017 EFO:0000504 MONDO:0005037 ONCOTREE:ISTAD" "Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia." "Orphanet:18 MEDGEN:853429 NORD:1969 MedDRA:10045224 HP:0008341 OMIMPS:179800 UMLS:C1704380 GARD:4667 ICD9:588.89 SCTID:236461000" "An Alveolata infectious disease that involves infection caused by the members of the phylum Ciliophora, which are characterized by the presence of hair-like organelles called cilia." "MeSH:D016770 MEDGEN:88379 UMLS:C0085308 MONDO:0005704 MESH:D016770 DOID:2788" "Hearing loss resulting from disorders of the central nervous system auditory pathways." "UMLS:C0018776 NCIT:C34662 icd11.foundation:1513090105 MEDGEN:9162" - "Inflammation of the connective and adipose tissues surrounding the KIDNEY." "SCTID:111404004 MeSH:D010501 MONDO:0006900 DOID:2982 UMLS:C0031065 MESH:D010501 SNOMEDCT:111404004 MEDGEN:10656 MedDRA:10072058" - "A glycerophosphoglycerol where both glycerol moieties are attached at primary positions." "CAS:6418-92-4 Reaxys:1727736 KEGG:C03274 Beilstein:1727736" + "A glycerophosphoglycerol where both glycerol moieties are attached at primary positions." "CAS:6418-92-4 Reaxys:1727736 KEGG:C03274" "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" "Human peripheral blood cutaneous T-cell lymphoma cell line" "RRID:CVCL_3526 CLO:0004303" "Mseleni joint disease (MJD) is a rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short staure and brachydactyly have been reported in a few patients with MJD." "OMIM:613342 SCTID:715470008 UMLS:C2931420 GARD:960 Orphanet:2619 MEDGEN:419408 MESH:C537086 icd11.foundation:419953164" @@ -16429,7 +16327,7 @@ "MEDGEN:1808950 UMLS:C5676996 OMIM:619902" "Quantification of interleukin-1 receptor-like 2 in a sample." "PMID:29875488" - "A tricarboxylic acid that is prop-1-ene substituted by carboxy groups at positions 1, 2 and 3." "CAS:499-12-7 Reaxys:1725828 Beilstein:1725828 PMID:25011271 PMID:24702026 PMID:24710945 Gmelin:185280 Wikipedia:Aconitic_acid" + "A tricarboxylic acid that is prop-1-ene substituted by carboxy groups at positions 1, 2 and 3." "CAS:499-12-7 Reaxys:1725828 PMID:25011271 PMID:24702026 PMID:24710945 Gmelin:185280 Wikipedia:Aconitic_acid" "Respiratory system disorder that occurs in non-human animals." "The amount of a Rab9 effector protein with Kelch motifs when measured in blood serum." "Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies." "ICD9:759.89 OMIM:134780 UMLS:C0265263 MEDGEN:120523 SCTID:13280000 icd11.foundation:505576809 MESH:C537916 GARD:61 Orphanet:1988 NORD:1136" @@ -16466,7 +16364,6 @@ "The amount of a sodium channel subunit beta-3 when measured in blood serum." "The amount of a ADP-sugar pyrophosphatase when measured in blood serum." "Quantification of SHC-transforming protein 4 in a sample." "PMID:29875488" - "A Simplexvirus infectious disease that results_in inflammation located_in mucosa of mouth, has_material_basis_in Human herpesvirus 1, and has_symptom cold sores, has_symptom bad breath, and has_symptom fever." "MeSH:D013283 SCTID:57920007 DOID:9059 MONDO:0005792 MESH:D013283" "The determination of the amount of mitogen-activated protein kinase 8 in a sample" "PMID:28240269" "A milligram per milliliter is a density unit which is equal to mass of an object in milligrams divided by the volume in milliliters." "SNOMEDCT:258798001" @@ -16522,7 +16419,7 @@ "Intellectual or mental process whereby an organism becomes aware of or obtains knowledge." "NCIt:C16446 MeSH:D003071" "The amount of a promotilin when measured in blood serum." "quantification of the amount of basal Cell Adhesion Molecule in a sample" - "An alpha,omega-dicarboxylic acid that is a linear five-carbon dicarboxylic acid." "Reaxys:1209725 PMID:24587932 LIPID_MAPS_instance:LMFA01170046 Wikipedia:Glutaric_acid PMID:24297153 HMDB:HMDB0000661 PDBeChem:GUA KNApSAcK:C00001184 Gmelin:26809 CAS:110-94-1 KEGG:C00489 DrugBank:DB03553 PMID:24900967 Beilstein:1209725" + "An alpha,omega-dicarboxylic acid that is a linear five-carbon dicarboxylic acid." "Reaxys:1209725 PMID:24587932 LIPID_MAPS_instance:LMFA01170046 Wikipedia:Glutaric_acid PMID:24297153 HMDB:HMDB0000661 PDBeChem:GUA KNApSAcK:C00001184 Gmelin:26809 CAS:110-94-1 KEGG:C00489 DrugBank:DB03553 PMID:24900967" "The amount of a meiosis 1 arrest protein when measured in blood serum." "MEDGEN:1759100 UMLS:C5436652 OMIM:619036" @@ -16537,7 +16434,6 @@ "A fibromatosis of the palmar fascia characterized by thickening and contracture of the fibrous bands on the palmar surfaces of the hand and fingers. It arises most commonly in men between the ages of 30 and 50." "SNOMEDCT:274142002 MeSH:D004387 SNOMEDCT:410812005" "The determination of the amount of galectin-8 in a sample" "PMID:28240269" "Osteoarthritis of the foot generally affects the joint at the base of your big toe. It can cause your toe to:\n- become stiff over time, which can make it difficult and painful to walk – this is called hallux rigidus\n- become bent, which can lead to painful bunions (bony lumps at the base of your big toe) – this is called hallux valgus.\n\nOsteoarthritis of the mid-foot is also quite common, especially in older people, and may cause an obvious bony swelling (osteophyte) on the top of your mid-foot.\n\nAnkle osteoarthritis is least common and may cause your heel to move to an unusual angle." "MEDGEN:592722 UMLS:C0409929 MONDO:0006631" - "A bone cancer that is located_in the area behind the eye and derives_from the orbit or secondarily derives_from an adjacent source (eyelid, paranasal sinus, or intracranial compartment). It results_in the eye pushing forward causing a bulging of the eye called proptosis." "MONDO:0002889 MeSH:D009918 SCTID:127003006 MEDGEN:56314 UMLS:C0153626 NCIT:C3290 ICD9:239.89 DOID:4143 NCIT:C3562 ICD9:190.1" "The series of events required for an organism to receive a gustatory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Gustation involves the direct detection of chemical composition, usually through contact with chemoreceptor cells. This is a neurological process." "Wikipedia:Taste NCIt:C20620" "Infarctions that occur in the brain stem which is comprised of the midbrain; pons; and medulla oblongata. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury." "MeSH:D020526 MESH:D020526 MedDRA:10006147 UMLS:C0521542 DOID:3523 SCTID:95457000 MONDO:0006686 ICD9:434.91 MEDGEN:101068" "UMLS:C5436647 OMIM:619033 MEDGEN:1776566 DOID:0081397" @@ -16603,7 +16499,6 @@ "DOID:0112138 GARD:16403 MEDGEN:1740444 UMLS:C5436638 OMIM:619028" "OMIM:619026 GARD:10447 MESH:C567853 MEDGEN:1736667 Orphanet:641353 OMIM:603513 UMLS:C5436628" - "recurrent pneumonia due to nontuberculous mycobacterium infections" "DOID:412 MEDGEN:195802 HP:0006532 SCTID:699014000 MONDO:0005936 UMLS:C0694550 MeSH:D009165" "The amount of a scrapie-responsive protein 1 when measured in blood." "PMID:37794183" "A resting mature B cell that has the phenotype IgM-positive, IgD-positive, CD23-positive and CD21-positive, and found in the B cell follicles of the white pulp of the spleen or the corticol areas of the peripheral lymph nodes. This cell type is also described as being CD19-positive, B220-positive, AA4-negative, CD43-negative, and CD5-negative." @@ -16611,7 +16506,7 @@ "The amount of a methylated-DNA--protein-cysteine methyltransferase when measured in blood serum." "A medical history of exposure of the mother of a child or fetus to a teratogenic substance during pregnancy." "UMLS:C4023357" "quantification of the presence or absence of C9orf72 mutations in a tissue sample or an individual" - "A labdane diterpenoid that is the 1,9-dideoxy derivative of forskolin." "CAS:64657-18-7 PMID:16749796 LIPID_MAPS_instance:LMPR0104030009 Beilstein:5304980 Reaxys:5304980 PMID:19831022" + "A labdane diterpenoid that is the 1,9-dideoxy derivative of forskolin." "CAS:64657-18-7 PMID:16749796 LIPID_MAPS_instance:LMPR0104030009 Reaxys:5304980 PMID:19831022" "Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome is characterized by severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance." "GARD:18776 UMLS:C4302825 MEDGEN:928494 SCTID:722108000 Orphanet:2653" @@ -16735,7 +16630,7 @@ "A chronic pain phenotype that originates in the neck" "A hydrobromide obtained by reaction of NAN 190 with one equivalent of hydrobromic acid." "CAS:115338-32-4 ChemIDplus:115338-32-4 Reaxys:4775818 ChEMBL:805692" "Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." "ICD10:Q82.1 OMIM:278780" - "Pemphigus is a group of rare autoimmune diseases that cause blistering of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals).This conditioncan occur at any age, but often strikes people in middle or older age. Studies have shown that some populations may be at greater risk for certain types of pemphigus. For instance, people of Jewish descent and those from India, Southeast Europe, and the Middle East are at greater risk for pemphigus vulargis, while pemphigus foliaceus is more common in North America, Turkey, and South America. Pemphigus is a chronic disease which is best controlled by early diagnosis and treatment.Treatment includes steroids to reduce inflammation,drugs that suppress the immune system responseand antibiotics to treat associated infections. There are four main types of pemphigus: Pemphigus vulgaris Pemphigus foliaceus IgA pemphigus Paraneoplastic pemphigus" "ICD10CM:L10 MONDO:0006594 ICD10:L10 UMLS:C0030807 Wikipedia:Pemphigus NANDO:1200228 MedDRA:10034280 NCIT:C34909 NCIt:C34909 icd11.foundation:191659986 MEDGEN:45369 ICD9:694.4 GARD:7352 MESH:D010392 MeSH:D010392 DOID:9182 SCTID:65172003" + "Pemphigus is a group of rare autoimmune diseases that cause blistering of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals).This conditioncan occur at any age, but often strikes people in middle or older age. Studies have shown that some populations may be at greater risk for certain types of pemphigus. For instance, people of Jewish descent and those from India, Southeast Europe, and the Middle East are at greater risk for pemphigus vulargis, while pemphigus foliaceus is more common in North America, Turkey, and South America. Pemphigus is a chronic disease which is best controlled by early diagnosis and treatment.Treatment includes steroids to reduce inflammation,drugs that suppress the immune system responseand antibiotics to treat associated infections. There are four main types of pemphigus: Pemphigus vulgaris Pemphigus foliaceus IgA pemphigus Paraneoplastic pemphigus" "MONDO:0006594 MESH:D010392 ICD10:L10 Wikipedia:Pemphigus NCIt:C34909 DOID:9182 ICD9:694.4 UMLS:C0030807 NANDO:1200228 GARD:7352 MedDRA:10034280 MEDGEN:45369 ICD10CM:L10 icd11.foundation:191659986 MeSH:D010392 NCIT:C34909 SCTID:65172003" "A form of bronchial disorder with three distinct components: airway hyper-responsiveness (RESPIRATORY HYPERSENSITIVITY), airway INFLAMMATION, and intermittent AIRWAY OBSTRUCTION. It is characterized by spasmodic contraction of airway smooth muscle, WHEEZING, and dyspnea (DYSPNEA, PAROXYSMAL)." "OMIM:608584 SNOMEDCT:195967001 OMIM:611960 OMIM:607277 MedDRA:10003553 MeSH:D001249 ICD9:493 MedDRA:10003562 OMIM:600807 ICD10:J45 OMIM:611064 DOID:2841 MedDRA:10003561 MedDRA:10003563 NCIt:C28397" "A Nematoda infectious disease that involves infection by parasitic worms of the class Enoplea, characterized by no body annules, no elaborate amphids, and five or more esophageal glands." "MeSH:D017189 MONDO:0005745 MESH:D017189 DOID:1253" @@ -16802,7 +16697,6 @@ "A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate." "MONDO:0006389 UMLS:C1335518 MEDGEN:233356 EFO:1000498 NCIT:C5522 DOID:3252" "Any of six small voluntary muscles that pass between the eyeball and the orbit and control the movement of the eyeball in relation to the orbit." "BTO:0001579 FMA:49033" - "a benign rare chronic inflammatory disorder. Its primary symptoms are subdermal lesions in the head or neck or painless unilateral inflammation of cervical lymph nodes." "Orphanet:482 GARD:6835 MESH:D000796 Wikipedia:Kimura's_disease MESH:D000082242 MEDGEN:46183 NCIT:C26867 icd11.foundation:1229046951 UMLS:C0033838 DOID:7365 MedDRA:10048640 MONDO:0018830" "Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective)." "SNOMEDCT_US:275478007 UMLS:C1855285 UMLS:C1305420" "A rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most of cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent." "GARD:17444 OMIMPS:614937 SCTID:763770005 Orphanet:319189" "MEDGEN:488986 ICD9:746.89 icd11.foundation:664625334 SCTID:40272001 UMLS:C2063331 GARD:10697 Orphanet:99104" @@ -16832,7 +16726,6 @@ "The amount of a alpha-(1,3)-fucosyltransferase 7 when measured in blood serum." "Caudal is a geometric modifier which indicates a position towards the tail." "SNOMEDCT:3583002 NCIt:C73851" - "A viral infectious disease that results_in infection, has_material_basis_in Lassa virus, which is transmitted_by multimammate rat of the genus Mastomys. The infection has_symptom fever, has_symptom retrosternal pain, has_symptom sore throat, has_symptom back pain, has_symptom cough, has_symptom abdominal pain, has_symptom vomiting, has_symptom diarrhea, has_symptom conjunctivitis, has_symptom facial swelling, has_symptom proteinuria (protein in the urine), and has_symptom mucosal bleeding." "ICD9:078.89 NCIT:C128418 MESH:D007835 MedDRA:10023927 GARD:19688 icd11.foundation:515020316 UMLS:C0023092 ICD10CM:A96.2 Orphanet:99824 DOID:9537 MONDO:0005820 MEDGEN:7276 SCTID:19065005 MeSH:D007835" "The amount of a proline-rich transmembrane protein 2 when measured in blood." "PMID:37794183" "A hemangioma arising from the brain." "UMLS:C0238814 MEDGEN:116075 DOID:5393 NCIT:C7739" @@ -16860,7 +16753,7 @@ "neural stem cells experimentally derived from ES cells" - "An isothiocyanate having a 4-(methylsulfinyl)butyl group attached to the nitrogen." "Reaxys:1723237 Wikipedia:Sulforaphane Patent:WO2013179056 PMID:18090122 Patent:CA2839972 LINCS:LSM-4919 PMID:16442570 CAS:4478-93-7 Patent:WO2013179057 Beilstein:1723237 PMID:17134937 Patent:CN103229711 HMDB:HMDB0005792 Patent:US2013323225" + "An isothiocyanate having a 4-(methylsulfinyl)butyl group attached to the nitrogen." "Reaxys:1723237 Wikipedia:Sulforaphane Patent:WO2013179056 PMID:18090122 Patent:CA2839972 LINCS:LSM-4919 PMID:16442570 CAS:4478-93-7 Patent:WO2013179057 PMID:17134937 Patent:CN103229711 HMDB:HMDB0005792 Patent:US2013323225" "OMIM:252920 ICD10:E76.2" "Quantification of the amount of X-24494 in a sample." "PMID:35347128" @@ -16901,11 +16794,10 @@ "Quantification of the amount of malonic acid in a sample." "PMID:35995766" - "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain." "MESH:D004451 icd11.foundation:342249036 DOID:1218 MONDO:0005739 MeSH:D004451 ICD9:121.8 SCTID:52918004 MEDGEN:3956 UMLS:C0013514" "SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21)." "UMLS:C3809910 MEDGEN:816240 OMIM:615553 GARD:17604 Orphanet:370943" "The amount of a cyclic AMP-dependent transcription factor ATF-1 when measured in blood serum." "Disorder in which the cause of disease is a variation in the POLR3B gene." - "An oxygen hydride consisting of an oxygen atom that is covalently bonded to two hydrogen atoms" "CAS:7732-18-5 MetaCyc:WATER Gmelin:117 KEGG:D00001 MolBase:1 MeSH:D014867 MO:380 PDBeChem:HOH NCIt:C65147 Reaxys:3587155 Wikipedia:Water HMDB:HMDB0002111 KEGG:C00001 Beilstein:3587155 SNOMEDCT:11713004" + "An oxygen hydride consisting of an oxygen atom that is covalently bonded to two hydrogen atoms" "CAS:7732-18-5 MetaCyc:WATER Gmelin:117 KEGG:D00001 MolBase:1 MeSH:D014867 MO:380 PDBeChem:HOH NCIt:C65147 Reaxys:3587155 Wikipedia:Water HMDB:HMDB0002111 KEGG:C00001 SNOMEDCT:11713004" "GARD:20868 UMLS:C5679716 MEDGEN:1825972 Orphanet:262785" "Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications." "GARD:604 OMIM:104100 icd11.foundation:1745113656 DOID:0111244 Orphanet:1010 UMLS:C4304669 SCTID:719518004 MEDGEN:930338" @@ -16942,6 +16834,7 @@ "The amount of a lymphocyte-specific protein 1 when measured in blood." "PMID:37794183" + "An assay that localizes a specific DNA or RNA sequence within a portion or section of tissue using artificially induced nucleic hybridization."@en "PMID:9021518" "An assay that localizes a specific DNA or RNA sequence within a portion or section of tissue using artificially induced nucleic hybridization." "PMID:9021518" "Quantification of the amount of pyroglutamylglutamine in a sample." "PMID:35347128" "Mouse skin melanoma cell line from mouse strain C57BL/6" "BTO:0002014 CLO:0001794 RRID:CVCL_0159" @@ -16951,8 +16844,6 @@ "OMIM:263700 ICD10:E80.0" - "A stomach disease that is an inflammation of the lining of the stomach." "HP:0005263 MONDO:0004966 MEDGEN:4843 UMLS:C0017152 ICD9:535.40 MESH:D005756 SNOMEDCT:4556007 icd11.foundation:1871672644 ICD9:535.00 SCTID:4556007 ICD9:535.01 ICD9:535.41 MedDRA:10017853 ICD9:535.4 ICD9:535.0 NCIt:C26780 MeSH:D005756 DOID:4029 NCIT:C26780 ICD10:K29" - "Excess production of ADRENAL CORTEX HORMONES such as ALDOSTERONE; HYDROCORTISONE; DEHYDROEPIANDROSTERONE; and/or ANDROSTENEDIONE. Hyperadrenal syndromes include CUSHING SYNDROME; HYPERALDOSTERONISM; and VIRILISM." "UMLS:C0001622 MeSH:D000308 MEDGEN:7899 MESH:D000308 SCTID:275437005 MONDO:0006640 DOID:3947 ICD9:255.3 HP:0003118" "A 1,4-benzodiazepinone that is 1,3-dihydro-2H-1,4-benzodiazepin-2-one substituted by a chloro group at position 7, a hydroxy group at position 3 and phenyl group at position 5." "PMID:9811432 Patent:CN1543961 Reaxys:754065 DrugBank:DB00842 Wikipedia:Oxazepam KEGG:C07359 MeSH:D010076 CAS:604-75-1 SNOMEDCT:79225003 NCIt:C47642 KEGG:D00464 SNOMEDCT:387455006 Drug_Central:2015 PMID:17456431 HMDB:HMDB0014980" "A cell that specializes in controlled release of one or more substances." "NCIt:C13055 FMA:86916 BTO:0003659" @@ -16984,7 +16875,7 @@ "A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis." "SCTID:254863004 NCIT:C6261 MEDGEN:277970 UMLS:C1370419 MESH:C537296" "Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism." "OMIM:613451 MEDGEN:462053 DOID:0081046 Orphanet:228390 SCTID:725029001 UMLS:C3150703 GARD:12641" "The amount of a coiled-coil domain-containing protein 134 when measured in blood." "PMID:37794183" - "A carboxylic ester obtained by formal condensation between 3-(2,2-dichloroethenyl)-2,2-dimethylcyclopropanecarboxylic acid and (4-fluoro-3-phenoxyphenyl)(hydroxy)acetonitrile." "Patent:US4218469 Patent:US4287208 Drug_Central:4407 KEGG:D07761 Beilstein:2788149 NCIt:C80599 KEGG:C10982 PPDB:192 PMID:17912691 PMID:18383791 Reaxys:2788149 Patent:DE2709264 CAS:68359-37-5 MeSH:C052570" + "A carboxylic ester obtained by formal condensation between 3-(2,2-dichloroethenyl)-2,2-dimethylcyclopropanecarboxylic acid and (4-fluoro-3-phenoxyphenyl)(hydroxy)acetonitrile." "Patent:US4218469 Patent:US4287208 Drug_Central:4407 KEGG:D07761 NCIt:C80599 KEGG:C10982 PPDB:192 PMID:17912691 PMID:18383791 Reaxys:2788149 Patent:DE2709264 CAS:68359-37-5 MeSH:C052570" "A triglyceride in which the three acyl groups contain a total of 60 carbons and 12 double bonds." "A white patch or plaque on a mucous membrane that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition." "UMLS:C0023531 SCTID:274134003 MESH:D007971 NCIT:C3186 MEDGEN:44133" "NCIt:C44085" @@ -17024,7 +16915,7 @@ "The amount of a C-X-C motif chemokine 14 when measured in blood serum." "NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" - "A member of the class of chloromethanes that is methane in which two of the hydrogens have been replaced by chlorine. A dense, non-flammible colourless liquid at room temperature (b.p. 40degreeC, d = 1.33) which is immiscible with water, it is widely used as a solvent, a paint stripper, and for the removal of caffeine from coffee and tea." "Wikipedia:Dichloromethane CAS:75-09-2 Patent:US2792435 PMID:8465711 Patent:US3126419 Reaxys:1730800 KEGG:C02271 UM-BBD_compID:c0233 MetaCyc:CPD-681 PMID:11884241 Patent:US2979541 KEGG:D02330 HMDB:HMDB0031548 Gmelin:1302 Beilstein:1730800 PMID:19091298" + "A member of the class of chloromethanes that is methane in which two of the hydrogens have been replaced by chlorine. A dense, non-flammible colourless liquid at room temperature (b.p. 40degreeC, d = 1.33) which is immiscible with water, it is widely used as a solvent, a paint stripper, and for the removal of caffeine from coffee and tea." "Wikipedia:Dichloromethane CAS:75-09-2 Patent:US2792435 PMID:8465711 Patent:US3126419 Reaxys:1730800 KEGG:C02271 UM-BBD_compID:c0233 MetaCyc:CPD-681 PMID:11884241 Patent:US2979541 KEGG:D02330 HMDB:HMDB0031548 Gmelin:1302 PMID:19091298" "UMLS:C5231394 OMIM:301032 MEDGEN:1684820 DOID:0111838" "Quantification of the amount of pigement epithleium-derived factor in a sample." "PMID:35264221 NCIT:C101645" "An acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin." "MESH:D052683 FMA:83095" @@ -17087,7 +16978,7 @@ "The amount of a late cornified envelope protein 3C when measured in blood serum." "An infection of the upper layers of the skin caused by species of streptococcus. Erysipelas results in a fiery red rash with raised edges that can easily be distinguished from the skin around it. The affected skin may be warm to the touch." "UMLS:C0014733 SCTID:44653001 MedDRA:10015145 MESH:D004886 DOID:11330 ICD9:035 icd11.foundation:1651247891 ICD10CM:A46 MEDGEN:41855 HP:0001055 MONDO:0001266" "UMLS:C0018553 DOID:6457 MESH:D006223 ICD10:Q85.8 GARD:0006202 Orphanet:201 MedDRA:10051906 OMIMPS:158350 SCTID:58037000 NCIT:C3076" - "The trans-isomer of zeatin." "KEGG:C00371 PMID:16998071 PMID:21964459 PDBeChem:ZEA SNOMEDCT:85822005 PMID:23656869 BPDB:1629 CAS:1637-39-4 PMID:29630775 CAS:32771-64-5 MeSH:D015026 PMID:12595714 PMID:23280040 PMID:29764985 Beilstein:616241 NCIt:C72219 MetaCyc:CPD-4210 PMID:28737742 PMID:27613625 PMID:33999454 PMID:23187681 PMID:15321719 PMID:33178280 Wikipedia:Zeatin PMID:31682013 PMID:18718563 NCIt:C95164 KNApSAcK:C00000091 Reaxys:616241 PMID:24311578 AGR:IND605478333" + "The trans-isomer of zeatin." "KEGG:C00371 PMID:16998071 PMID:21964459 PDBeChem:ZEA SNOMEDCT:85822005 PMID:23656869 BPDB:1629 CAS:1637-39-4 PMID:29630775 CAS:32771-64-5 MeSH:D015026 PMID:12595714 PMID:23280040 PMID:29764985 NCIt:C72219 MetaCyc:CPD-4210 PMID:28737742 PMID:27613625 PMID:33999454 PMID:23187681 PMID:15321719 PMID:33178280 Wikipedia:Zeatin PMID:31682013 PMID:18718563 NCIt:C95164 KNApSAcK:C00000091 Reaxys:616241 PMID:24311578 AGR:IND605478333" "Quantification of interleukin-15 receptor subunit alpha in a sample." "PMID:29875488" "The amount of a glycine N-acyltransferase when measured in blood serum." @@ -17107,7 +16998,7 @@ "EHDAA:257 ZFA:0001178 RETIRED_EHDAA2:0001273 XAO:0004091 EMAPA:16074 VHOG:0001372 TAO:0001178 EFO:0003643" "UMLS:C5393302 OMIM:301039 MEDGEN:1716269" "SNOMEDCT:77601007 NCIt:C17201" - "A guanosine where the hydrogens of the amine group at C-2 are substituted by methyl groups." "HMDB:HMDB0004824 Reaxys:47545 CAS:2140-67-2 Beilstein:47545 PMID:22770225" + "A guanosine where the hydrogens of the amine group at C-2 are substituted by methyl groups." "HMDB:HMDB0004824 Reaxys:47545 CAS:2140-67-2 PMID:22770225" "Quantification of the amount of 1-(1-enyl-stearoyl)-2-oleoyl-GPE (P-18:0/18:1) in a sample." "PMID:35347128" "SNOMEDCT:87596005" "A data set containing clinical information." @@ -17174,7 +17065,6 @@ "Insulin-producing neuron with a cell body in the pars intercerebralis. These cells coexpress the genes Insulin-like peptide (Ilp) 2, Ilp3 and Ilp5. There are approximately seven of these cells per hemisphere and they fasciculate with the nervus corporis cardiaci (Reinhard et al., 2023)." "VFB:FBbt_00004011 FBbt:00004011" "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" "An Arabidopsis ecotype." - "Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems." "MESH:D002547 MedDRA:10008129 ICD9:343.9 ICD10CM:G80 ICD9:343.8 SCTID:128188000 HP:0100021 icd11.foundation:76906748 MONDO:0006497 MEDGEN:854 DOID:1969 UMLS:C0007789 CSP:0723-4729 NCIT:C34460" "The amount of a cartilage oligomeric matrix protein when measured in blood serum." "A non-neoplastic hamartomatous polyp that arises from the colon and rectum. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." "UMLS:C1377708 MONDO:0006161 EFO:1000194 MEDGEN:235116 NCIT:C5681" @@ -17224,7 +17114,7 @@ "Quantification of the amount of X-21815 in a sample." "PMID:35347128" "The amount of a formin-like protein 1 when measured in blood." "PMID:37794183" "A malignant mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant mesenchymal component and a benign or atypical mullerian-type epithelial component." "NCIT:C40277 UMLS:C1519914 MEDGEN:274378 DOID:4117" - "A condition resulting from infection by Klebsiella granulomati, which is characterized by ulcerative lesions of the genitalia." "icd11.foundation:764124124 MESH:D006100 MONDO:0005777 MeSH:D006100 MEDGEN:42291 SCTID:28867007 ICD10CM:A58 UMLS:C0018190 ICD9:099.2 MedDRA:10018693 ICD10:A58 DOID:9113 NCIT:C3065" + "A condition resulting from infection by Klebsiella granulomati, which is characterized by ulcerative lesions of the genitalia." "icd11.foundation:764124124 MEDGEN:42291 UMLS:C0018190 ICD10CM:A58 DOID:9113 MONDO:0005777 MeSH:D006100 MESH:D006100 ICD10:A58 SCTID:28867007 MedDRA:10018693 NCIT:C3065 ICD9:099.2" "Orphanet:183487" "Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy (PEBEL) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions (summary by Kremer et al., 2016)." "OMIMPS:617186 OMIM:618321 UMLS:C4310675 MONDO:0014960 OMIM:617186" "Quantification of bifunctional polynucleotide phosphatase/kinase in a sample." "PMID:29875488" @@ -17335,7 +17225,6 @@ "Chronic ESOPHAGITIS characterized by esophageal mucosal EOSINOPHILIA. It is diagnosed when an increase in EOSINOPHILS are present over the entire esophagus. The reflux symptoms fail to respond to PROTON PUMP INHIBITORS treatment, unlike in GASTROESOPHAGEAL REFLUX DISEASE. The symptoms are associated with IgE-mediated hypersensitivity to food or inhalant allergens." "MedDRA:10064212 MeSH:D057765 MONDO:0005361 NCIT:C27105 UMLS:C0341106 Orphanet:73247 SCTID:235599003 NCIt:C27105 MedDRA:10064220 ICD9:530.13 ICD10CM:K20.0 SNOMEDCT:235599003 DOID:13922 NANDO:1200456 MEDGEN:83318 MESH:D057765" - "Pemphigus vulgaris is a rare chronic blistering skin disease and the most common form of pemphigus." "GARD:7355 MedDRA:10052802 ICD10CM:L10.0 SCTID:49420001 NCIt:C34910 NANDO:1200229 MESH:C536645 UMLS:C0030809 SNOMEDCT:49420001 MONDO:0008219 MEDGEN:10621 OMIM:169610 DOID:0060851 Wikipedia:Pemphigus_vulgaris NCIT:C34910 Orphanet:704 icd11.foundation:278358681" "Rheumatoid lung disease is a group of lung problems related to rheumatoid arthritis." "SCTID:398726004 MEDGEN:681135 DOID:849 ICD9:714.81 UMLS:C0994344" "A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." "DOID:0110726 GARD:3045 Orphanet:228349 NCIT:C85864 UMLS:C1876161 NANDO:1200153 OMIM:204500 MEDGEN:406281 NANDO:2201242" "46C is an embryonic stem cell line, constructed in the laboratory of Austin Smith, in which a drug resistance gene is placed under the control of a Sox1 promoter. Cells were isolated from the 129a mouse strain. [PMID: 12524553]" "PMID:12524553 RRID:CVCL_Y482" @@ -17422,7 +17311,7 @@ "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an anthracycline-based chemotherapy stimulus." "The amount of a zinc finger protein 566 when measured in blood serum." - "A diamino-1,3,5-triazine that is 1,3,5-triazine-2,4-diamine substituted by a chloro group at position 6 while one of hydrogens of each amino group is replaced respectively by an ethyl and a propan-2-yl group." "LINCS:LSM-18990 NCIt:C26311 HMDB:HMDB0041830 MetaCyc:ATRAZINE PMID:24246238 PMID:24211529 DrugBank:DB07392 PPDB:43 MeSH:D001280 SNOMEDCT:85612002 Reaxys:612020 UM-BBD_compID:c0002 PDBeChem:ATZ PMID:24239819 KEGG:C06551 CAS:1912-24-9 Beilstein:612020 Wikipedia:Atrazine" + "A diamino-1,3,5-triazine that is 1,3,5-triazine-2,4-diamine substituted by a chloro group at position 6 while one of hydrogens of each amino group is replaced respectively by an ethyl and a propan-2-yl group." "NCIt:C26311 HMDB:HMDB0041830 MetaCyc:ATRAZINE PMID:24246238 PMID:24211529 DrugBank:DB07392 PPDB:43 MeSH:D001280 SNOMEDCT:85612002 Reaxys:612020 UM-BBD_compID:c0002 PDBeChem:ATZ PMID:24239819 KEGG:C06551 CAS:1912-24-9 Wikipedia:Atrazine LINCS:LSM-18990" "Genome-wide, unbiased identification of DSBs enabled by sequencing (GUIDE-seq), to profile off-target cleavage by CRISPR-Cas nucleases" "PMID:25513782" "An oval area in the retina, usually located temporal to the posterior pole of the eye and slightly below the level of the optic disk. It is characterized by the presence of a yellow pigment diffusely permeating the inner layers, contains the fovea centralis in its center, and provides the best phototopic visual acuity. It is devoid of retinal blood vessels, except in its periphery, and receives nourishment from the choriocapillaris of the choroid. (From Cline et al., Dictionary of Visual Science, 4th ed)." "NCIT:C26464 EMAPA:36516 BTO:0003015 EV:0100349 MA:0001306 MESH:D008266 GAID:909 UMLS:C1284755 NCIT:C33044 FMA:58637 Wikipedia:Macula_of_retina SCTID:362517001 UMLS:C0450295 BIRNLEX:2540" "UMLS:C5676928 MEDGEN:1802903 OMIM:619769" @@ -17483,7 +17372,6 @@ "The determination of the amount of collagen alpha-1(XXIII) chain in a sample" "PMID:28240269" "The amount of a KIF-binding protein when measured in blood serum." "The amount of a dynamin-1-like protein when measured in blood serum." - "Group of severe, sometimes life-threatening skin reactions that are often drug-induced. Severe cutaneous adverse reactions (SCARs) include: Erythema multiforme, Stevens-Johnson syndrome, toxic epidermal necrolysis, drug reaction with eosinophilia and systemic symptoms, and acute generalized exanthematous pustulosis." "MEDGEN:1843455 MedDRA:20000020 UMLS:C5554042 SNOMEDCT:12402003 NCIt:C34483 MONDO:0005594 SNOMEDCT:275322007" "Aspiration of immature hematopoietic elements and blood from the bone marrow. It is done for the evaluation of hematopoietic disorders and for the evaluation of infectious diseases and cytogenetic studies. The procedure is usually done on the hip bone, breastbone, or thigh bone. A small area of skin and the surface of the bone underneath are numbed with an anesthetic. Then, a special wide needle is pushed into the bone. A sample of liquid bone marrow is removed with a syringe attached to the needle. The bone marrow is sent to a laboratory to be looked at under a microscope. This procedure may be done at the same time as a bone marrow biopsy." "NCIt:C15644" "A mature or immature teratoma that affects the central nervous system." "GARD:20735 NCIT:C5441 UMLS:C1332895 NANDO:2200104 DOID:3640 Orphanet:252018 MEDGEN:234105" @@ -17514,7 +17402,7 @@ "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." "ICD10:G24 UMLS:C4020871 UMLS:C0013421" "OMIM:106100 MeSH:D054179" "An aggressive malignant smooth muscle neoplasm, arising from the lung. It is characterized by a proliferation of neoplastic spindle cells." "NCIT:C5667 UMLS:C1334448 DOID:5265 MEDGEN:232711" - "An amidobenzoic acid obtained by formal condensation of the carboxy group of (5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)benzoic acid with the anilino group of 4-aminobenzoic acid. A selective RARalpha agonist." "PMID:21150871 Reaxys:3565084 ChemIDplus:3565084 CiteXplore:21715427 CiteXplore:20453882 PMID:19700416 ChEMBL:209312 CiteXplore:21150871 CiteXplore:18416830 ChemIDplus:102121-60-8 CAS:102121-60-8 PDB:3KMR PMID:22353356 PMID:20453882 PMID:22258322 MeSH:C068073 CiteXplore:19700416 CiteXplore:20147703 KEGG:C15619 PMID:21715427 PMID:18271925 PMID:19790202 CiteXplore:22258322 PMID:18416830 CiteXplore:19790202 PMID:20147703 PMID:21310893 CiteXplore:21310893 CiteXplore:22353356 Beilstein:3565084 CiteXplore:18271925 LINCS:LSM-2132" + "An amidobenzoic acid obtained by formal condensation of the carboxy group of (5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)benzoic acid with the anilino group of 4-aminobenzoic acid. A selective RARalpha agonist." "PMID:21150871 Reaxys:3565084 ChemIDplus:3565084 CiteXplore:21715427 CiteXplore:20453882 PMID:19700416 ChEMBL:209312 CiteXplore:21150871 CiteXplore:18416830 ChemIDplus:102121-60-8 CAS:102121-60-8 PDB:3KMR PMID:22353356 PMID:20453882 PMID:22258322 MeSH:C068073 CiteXplore:19700416 CiteXplore:20147703 KEGG:C15619 PMID:21715427 PMID:18271925 PMID:19790202 CiteXplore:22258322 PMID:18416830 CiteXplore:19790202 PMID:20147703 PMID:21310893 CiteXplore:21310893 CiteXplore:22353356 CiteXplore:18271925 LINCS:LSM-2132" "A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns." "NCIt:C4333" "MEDGEN:1616061 UMLS:C4540293 OMIM:617744" "Quantification of Fc receptor-like protein 2 in a sample." "PMID:29875488" @@ -17685,7 +17573,7 @@ "Quantification of interleukin-2 in a sample." "PMID:29875488" "Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this disorder may also develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Chest pain that worsens when coughing, sneezing, or taking deep breaths is another common feature. People with pulmonary alveolar microlithiasismay also develop calcium phosphate deposits in other organs and tissue of the body. Though the course of the disease can be variable,many casesslowly progress to lung fibrosis, respiratory failure, or cor pulmonale. The only effective therapy is lung transplantation. In some cases, pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene and inherited in an autosomal recessive manner." "MedDRA:10037315 GARD:11894 MEDGEN:56374 UMLS:C0155912 ICD10CM:J84.02 DOID:12117 SCTID:87153008 ICD9:516.2 icd11.foundation:1220010076 OMIM:265100 MESH:C562405 Orphanet:60025 NANDO:2200202" - "A purine nucleoside in which hypoxanthine is attached to ribofuranose via a beta-N(9)-glycosidic bond." "KEGG:D00054 Gmelin:489332 CAS:58-63-9 Reaxys:624889 PMID:22770225 KNApSAcK:C00019692 ECMDB:ECMDB00195 Drug_Central:3301 YMDB:YMDB00510 Wikipedia:Inosine HMDB:HMDB0000195 MetaCyc:INOSINE KEGG:C00294 Beilstein:624889 PDBeChem:NOS" + "A purine nucleoside in which hypoxanthine is attached to ribofuranose via a beta-N(9)-glycosidic bond." "KEGG:D00054 Gmelin:489332 CAS:58-63-9 Reaxys:624889 PMID:22770225 KNApSAcK:C00019692 ECMDB:ECMDB00195 Drug_Central:3301 YMDB:YMDB00510 Wikipedia:Inosine HMDB:HMDB0000195 MetaCyc:INOSINE KEGG:C00294 PDBeChem:NOS" "One of two or more scientists working together on a research project. A person that equally contributes to the preparation of the protocol, and shares the responsibilities of this position, including medical monitoring (particularly toxicity/safety), liaison with statisticians over analysis, and the generation of a report containing the results. [ NCI ]" "NCIt:C51812" "A system of neurons that has the specialized function to produce and secrete hormones, and that constitutes, in whole or in part, an endocrine organ or system." "BTO:0002106 TADS:0000245" @@ -17730,7 +17618,7 @@ "Quantification of the amount of 4E-BP1 protein in a sample" "PMID:32641083" "Quantification of methylsuccinoylcarnitine in a sample." "A parathyroid gland adenoma composed predominantly or entirely of neoplastic cells with abundant granular eosinophilic cytoplasm." "MEDGEN:233845 NCIT:C27393 UMLS:C1335351 DOID:7611" - "A 2-oxo monocarboxylic acid anion that is the conjugate base of 4-methyl-2-oxopentanoic acid." "Reaxys:3904096 Beilstein:3904096 KEGG:C00233" + "A 2-oxo monocarboxylic acid anion that is the conjugate base of 4-methyl-2-oxopentanoic acid." "Reaxys:3904096 KEGG:C00233" "The amount of a nephronectin when measured in blood serum." "Quantification of the amount of X-11315 in a sample." "PMID:24816252" "MEDGEN:1648360 OMIM:618272 UMLS:C4748924 Orphanet:404476 GARD:17676" @@ -17793,7 +17681,7 @@ "The amount of a Ser-Leu when measured in blood." "PMID:37253714" "quantification of some aspect of air pollution in the home, eg from coal burning for cooking and heating, used as an environmental risk factor for lung cancer" "Enlargement of the anterior fontanelle with respect to age-dependent norms." "UMLS:C1866134" - "A 7-hydroxyisoflavone with additional hydroxy groups at positions 5 and 4'. It is a phytoestrogenic isoflavone with antioxidant properties." "PMID:15853412 PMID:26322379 PMID:17979711 PDBeChem:GEN PMID:24023812 PMID:22303062 Beilstein:263823 DrugBank:DB01645 PMID:28166217 KEGG:C06563 LIPID_MAPS_instance:LMPK12050218 NCIt:C1113 PMID:24297371 MetaCyc:CPD-3141 PMID:16166295 PMID:15576033 Chemspider:4444448 PMID:18815740 PMID:18490856 PMID:19107852 PMID:19402570 MeSH:D019833 PMID:18413741 PMID:34314575 FooDB:FDB011828 PMID:24379139 PMID:18344977 PMID:11564287 PMID:10741415 Reaxys:263823 PMID:20211733 CAS:446-72-0 PMID:10912792 PMID:12629420 Wikipedia:Genistein KEGG:D11680 PMID:17004897 PMID:15196699 HMDB:HMDB0003217 PMID:14654166 PMID:15288519 PMID:25593647 PMID:15772566 PMID:28259640 KNApSAcK:C00002526 LINCS:LSM-5549 PMID:15833883 PMID:10469641 PMID:16061678" + "A 7-hydroxyisoflavone with additional hydroxy groups at positions 5 and 4'. It is a phytoestrogenic isoflavone with antioxidant properties." "PMID:15853412 PMID:26322379 PMID:17979711 PDBeChem:GEN PMID:24023812 PMID:22303062 DrugBank:DB01645 PMID:28166217 KEGG:C06563 LIPID_MAPS_instance:LMPK12050218 NCIt:C1113 PMID:24297371 MetaCyc:CPD-3141 PMID:16166295 PMID:15576033 Chemspider:4444448 PMID:18815740 PMID:18490856 PMID:19107852 PMID:19402570 MeSH:D019833 PMID:18413741 PMID:34314575 FooDB:FDB011828 PMID:24379139 PMID:18344977 PMID:11564287 PMID:10741415 Reaxys:263823 PMID:20211733 CAS:446-72-0 PMID:10912792 PMID:12629420 Wikipedia:Genistein KEGG:D11680 PMID:17004897 PMID:15196699 HMDB:HMDB0003217 PMID:14654166 PMID:15288519 PMID:25593647 PMID:15772566 PMID:28259640 KNApSAcK:C00002526 LINCS:LSM-5549 PMID:15833883 PMID:10469641 PMID:16061678" "Abnormally diminished capacity to sweat." "UMLS:C0020620 SNOMEDCT_US:45004005 MEDDRA:10021013" "A malignant epithelial neoplasm characterized by the presence of a trabecular glandular architectural pattern." "DOID:3965 ICDO:8190/3 ICDO:8332/3 MEDGEN:86214 UMLS:C0302182 NCIT:C4068" @@ -17801,7 +17689,6 @@ "A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines. It arises from the chromaffin cells of the adrenal medulla. Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor. Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen. Other growth patterns including trabecular pattern may also be present." "OMIM:171300 MEDGEN:1636437 DOID:0050892 UMLS:C4551683 NCIT:C3326 EFO:0000239 ICDO:8700/0 MONDO:0004974 NANDO:2200078" "The amount of a actin nucleation-promoting factor WASL when measured in blood." "PMID:37794183" - "Meningitis caused by fungal agents which may occur as OPPORTUNISTIC INFECTIONS or arise in immunocompetent hosts." "UMLS:C0085438 SNOMEDCT:24321005 ICD9:117.9 ICD9:321.1 MedDRA:10017538 SCTID:24321005 MONDO:0006764 MEDGEN:39285 icd11.foundation:1137081791 DOID:11608 MeSH:D016921 MESH:D016921" "Human embryonic lung fibroblast cell line." "RRID:CVCL_E939 BTO:0006282" "An Arabidopsis ecotype." @@ -18062,7 +17949,6 @@ "A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur." "icd11.foundation:916773262 Orphanet:164 UMLS:C2919945 DOID:0060669 MEDGEN:418825 NCIT:C84626" "quantification of some aspect of alcohol consumption over a long period of time (typically several years)" "PMID:26081443" "OMIM:220110 ICD10:E88.8" - "Bleeding into the intracranial or spinal SUBARACHNOID SPACE, most resulting from INTRACRANIAL ANEURYSM rupture. It can occur after traumatic injuries (SUBARACHNOID HEMORRHAGE, TRAUMATIC). Clinical features include HEADACHE; NAUSEA; VOMITING, nuchal rigidity, variable neurological deficits and reduced mental status." "MEDGEN:11625 NCIt:C50757 HP:0002138 MESH:D013345 ICD9:430 SNOMEDCT:21454007 MeSH:D013345 SCTID:21454007 MedDRA:10042320 ICD10:I60 MONDO:0005099 UMLS:C0038525" "High-throughput sequencing: fluorescent ligand interaction profiling (HiTS-FLIP)" "PMID:21706015" "Any sense organ (FBbt:00005155) that has function 'detection of chemical stimulus involved in sensory perception (GO:0050907)'." "FMA:46472 ZFA:0001149 MFO:0003640 EHDAA:1502 BTO:0000840 XAO:0003033 EV:0100037 SAEL:72 XAO:0000201 TAO:0001149 FBbt:00005157 MA:0000281 EMAPA:16542 AAO:0000334" "GARD:18001 Orphanet:565858 MEDGEN:1648372 OMIM:618265 UMLS:C4748872" @@ -18123,7 +18009,7 @@ "Contact dermatitis associated with allergens or irritants found in the workplace." "MedDRA:10030012 UMLS:C0028796 ICD9:692.9 NCIT:C34859 MESH:D009783 MEDGEN:14449 MONDO:0006589 SCTID:402587003 DOID:4404" "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a phenylephrine stimulus" - "Catalysis of the reaction: H2O + O2 + sulfite = H2O2 + H+ + sulfate." "KEGG_REACTION:R00533 MetaCyc:SULFITE-OXIDASE-RXN MetaCyc:PWY-5326 RHEA:24600 EC:1.8.3.1 Reactome:R-HSA-1614544" + "Catalysis of the reaction: H2O + O2 + sulfite = H2O2 + H+ + sulfate." "KEGG_REACTION:R00533 MetaCyc:SULFITE-OXIDASE-RXN RHEA:24600 EC:1.8.3.1 Reactome:R-HSA-1614544" "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." "UMLS:C0018965 SNOMEDCT_US:53298000 SNOMEDCT_US:34436003" "A basal ganglia disease characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration." "HP:0002135 ICD9:333.0 NORD:1127 MESH:C536275 ICD9:348.89 SCTID:230311004 DOID:0060230 Orphanet:1980 SCTID:110997000 GARD:6406 MedDRA:10059626 NANDO:1200207 OMIMPS:213600 icd11.foundation:1081370436" "Quantification of somniferine in blood plasma." "HMDB:0038585" @@ -18131,7 +18017,7 @@ - "A branched-chain amino acid that consists of glycine in which one of the hydrogens attached to the alpha-carbon is substituted by an isobutyl group." "CAS:328-39-2 PMID:17439666 KEGG:C16439 Wikipedia:Leucine LIPID_MAPS_instance:LMFA01100048 Reaxys:636005 Beilstein:636005 Gmelin:50203" + "A branched-chain amino acid that consists of glycine in which one of the hydrogens attached to the alpha-carbon is substituted by an isobutyl group." "CAS:328-39-2 PMID:17439666 KEGG:C16439 Wikipedia:Leucine LIPID_MAPS_instance:LMFA01100048 Reaxys:636005 Gmelin:50203" "Orphanet:183666" @@ -18164,7 +18050,7 @@ "MEDGEN:1618052 UMLS:C4540232 DOID:0112004 OMIM:617718" "A penicillin compound having a 6beta-[3-(2-chloro-6-fluorophenyl)-5-methyl-1,2-oxazole-4-carboxamido] side-chain." "Drug_Central:1183 PMID:15773973 KEGG COMPOUND:C11748 NCIt:C80591 MeSH:D005436 PMID:23032409 PMID:23542420 ChemIDplus:5250-39-5 PMID:25998949 KEGG:C11748 CiteXplore:12569987 DrugBank:DB00301 PMID:5481218 Beilstein:4771988 KEGG DRUG:D04196 SNOMEDCT:96067005 Reaxys:4771988 PMID:29017833 KEGG:D04196 CAS:5250-39-5 KEGG COMPOUND:5250-39-5 PMID:12569987 SNOMEDCT:387544009 Wikipedia:Flucloxacillin" "The amount of a PWWP domain-containing DNA repair factor 3A when measured in blood serum." - "A pyrimidine obtained by formal addition of hydrogen across the 5,6-position of uracil." "PMID:20926004 MetaCyc:DI-H-URACIL Beilstein:112496 KEGG:C00429 PMID:18619742 CAS:504-07-4 PMID:15724255 PDBeChem:DUC Beilstein:1851498 Wikipedia:Dihydrouracil Reaxys:112496 HMDB:HMDB0000076 PMID:22770225" + "A pyrimidine obtained by formal addition of hydrogen across the 5,6-position of uracil." "PMID:20926004 MetaCyc:DI-H-URACIL KEGG:C00429 PMID:18619742 CAS:504-07-4 PMID:15724255 PDBeChem:DUC Beilstein:1851498 Wikipedia:Dihydrouracil Reaxys:112496 HMDB:HMDB0000076 PMID:22770225" "The cell-free portion of the blood from which the fibrinogen has been separated in the process of clotting." "Any renal principal cell that is part of some collecting duct of renal tubule." "https://cellxgene.cziscience.com/cellguide/CL_1001431 KUPO:0001128" "Hairy cell leukemia that is resistant to treatment." "MEDGEN:1639342 DOID:711 NCIT:C8030 UMLS:C4551546" @@ -18191,7 +18077,6 @@ "The result of a measurement of circulating antibodies specific to a salmonella antigen." "PMID:37164013" "The amount of a polypeptide N-acetylgalactosaminyltransferase 10 when measured in blood serum." - "A non-suppurative otitis media which is a collection of fluid that occurs in the middle ear space as a result of the negative pressure produced by altered Eustachian tube function. This can occur from viral upper respiratory infection or bacterial infection, or it can precede and/or follow acute bacterial otitis media." "NCIT:C34886 UMLS:C0456498 MeSH:D010034 ICD9:381.29 ICD9:381.20 MedDRA:10081113 ICD10:H65 DOID:11179 MONDO:0005892 MESH:D010034 SCTID:78868004 MEDGEN:629314" "A form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment." "Orphanet:93359 OMIMPS:271640 UMLS:C0432243 SCTID:254100000 MEDGEN:98148 ICD9:719.80 ICD9:756.9 DOID:0112197 MESH:C562968 GARD:4982" "An endogenous depression that involves intense, sustained and sometimes disabling depression experienced by women after giving birth." "SCTID:279225001 MONDO:0005929 UMLS:C0221074 ICD10CM:F53 MESH:D019052 DOID:9478 MEDGEN:66359 NCIT:C92852 MedDRA:10056393 MeSH:D019052" @@ -18325,7 +18210,6 @@ "Disease caused by the liberation of exotoxins of CLOSTRIDIUM PERFRINGENS in the intestines of sheep, goats, cattle, foals, and piglets. Type B enterotoxemia in lambs is lamb dysentery; type C enterotoxemia in mature sheep produces \"struck\", and in calves, lambs and piglets it produces hemorrhagic enterotoxemia; type D enterotoxemia in sheep and goats is pulpy-kidney disease or overeating disease." "MONDO:0006747 DOID:3583 SCTID:370514003 MESH:D004767 ICD9:799.89 SNOMEDCT:370514003 MeSH:D004767" - "hair loss as a result of chemotherapy treatment" "MEDGEN:1720394 MONDO:0005483 NCIT:C164162 UMLS:C5236021" "The amount of a prolyl 4-hydroxylase subunit alpha-1 when measured in blood serum." "Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI, see this term) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis." "OMIM:304900 ICD10:E23.2 OMIM:125700" @@ -18360,7 +18244,6 @@ "Quantification of serpin I2 in a sample." "PMID:29875488" - "A gram is a mass unit which is equal to one-thousanth of a kilogram." "MO:825 SNOMEDCT:258682000 NCIt:C48155" "This syndrome, associating familial adult medullary cystic disease with spastic quadriparesis has been described in two cases so far. Renal transplantation was successful in those two patients." "GARD:18777 UMLS:C4518090 Orphanet:2666 MEDGEN:1385988" "A population or type of organisms that is geneticaly different from others of the same species and possessing a set of defined characteristics." "MO:859" @@ -18382,7 +18265,6 @@ "X-linked intellectual disability-plagiocephaly syndrome is characterized by severe intellectual deficit, brachycephaly, plagiocephaly, prominent forehead and coarse facial features. It has been described in two males from one family. Two females belonging to the same family displayed moderate intellectual deficit but no craniofacial dysmorphism." "MEDGEN:419824 Orphanet:2898 SCTID:719812008 MESH:C537512 GARD:2765 UMLS:C2931516 OMIM:300064" "The amount of a piRNA biogenesis protein EXD1 when measured in blood serum." "Chemspider:24823203 LIPID_MAPS_instance:LMSP00000003" - "A disease marked by repeated episodes of increased bone resorption followed by excessive attempts at repair, resulting in weakened, deformed bones of increased mass. The resultant architecture of the bone assumes a mosaic pattern in which the fibers take on a haphazard pattern instead of the normal parallel symmetry." "MEDGEN:10493 DOID:5408 OMIM:616833 ICD10:M88 Orphanet:280110 OMIM:167250 OMIM:602080 UMLS:C0029401 MedDRA:10031151 OMIMPS:167250 MeSH:D010001 SNOMEDCT:2089002 SCTID:2089002 NCIT:C3292 MONDO:0005382" "OMIM:618254 MEDGEN:1648363 UMLS:C4748841 DOID:0111854" "Quantification of matrix-remodeling-associated protein 8 in a sample." "PMID:29875488" @@ -18401,7 +18283,6 @@ "Quantification of the amount of palmitoyl dihydrosphingomyelin (d18:0/16:0) in a sample." "PMID:35347128" "UMLS:C1859301 OMIM:213002 MeSH:C535353 ICD10:Q87.8" "An autosomal recessive immunologic disorder characterized by the onset of recurrent sinopulmonary infections in early childhood. Laboratory studies reveal hypogammaglobulinemia with decreased memory B cells that show impaired class-switch recombination (CSR) and decreased somatic hypermutation (SHM). Due to abnormal antibody production and impaired self-tolerance, patients may develop autoimmune cytopenias, such as thrombocytopenia, or autoimmune features, such as vitiligo. There are also defects in the T-cell compartment." "OMIM:619846 UMLS:C5676971 MEDGEN:1801342" - "Subnormal concentration of adrenocorticotropic hormone (ACTH) resulting in decreased secretion of cortisol by the adrenal gland." "SCTID:237692001 DOID:0080150 Orphanet:199296 MedDRA:10073179 UMLS:C0342388 MEDGEN:137968 MeSH:C535668 GARD:5727 HP:0011748 MONDO:0008720 ICD9:255.41 NCIt:C120433 OMIM:201400 MESH:C535668" "Quantification of symptom associated with nicotine withdrawal." "PMID:29532581" @@ -18522,7 +18403,7 @@ "ddRAD optimized for plants (middRAD)" "PMID:27493679" - "A bromoalkane that is ethane carrying bromo substituents at positions 1 and 2. It is produced by marine algae." "PMID:11312844 KEGG:C11088 Reaxys:605266 PPDB:1484 PMID:10088182 Beilstein:605266 HMDB:HMDB0060334 Gmelin:1913 CAS:106-93-4 MetaCyc:12-DIBROMOETHANE Wikipedia:1,2-Dibromoethane" + "A bromoalkane that is ethane carrying bromo substituents at positions 1 and 2. It is produced by marine algae." "PMID:11312844 KEGG:C11088 Reaxys:605266 PPDB:1484 PMID:10088182 HMDB:HMDB0060334 Gmelin:1913 CAS:106-93-4 MetaCyc:12-DIBROMOETHANE Wikipedia:1,2-Dibromoethane" "\nEstablished melanoma cell line from the Skin Cancer Unit at the German Cancer Research Center, Heidelberg.\n" "Quantification of cholesteryl ester 20:1 in a sample." "PMID:35668104" @@ -18601,7 +18482,7 @@ "Orphanet:183601" "Portion of tissue that is part of the anterior neural keel and will form the optic vesicle[ZFA]. A paired ectodermal placode that becomes invaginated to form the embryonic lens vesicles." "EHDAA2:0004431 AAO:0011038 XAO:0004090 ZFA:0000570 TAO:0000570 XAO:0000227 EFO:0003541" - "A tetracycline analogue having a dimethylamino group at position 7 and lacking the methyl and hydroxy groups at position 5." "PMID:22330257 Beilstein:3077644 DrugBank:DB01017 Patent:WO2008104734 Drug_Central:1813 PMID:31733348 LIPID_MAPS_instance:LMPK07000002 PMID:31719236 PMID:34232283 CAS:10118-90-8 KNApSAcK:C00018686 PMID:28709717 Chemspider:16735907 Reaxys:3077644 KEGG:C07225 HMDB:HMDB0015152 PDBeChem:MIY Patent:US3226436 PMID:34636517 KEGG:D05045 PMID:31630007 PMID:33568043" + "A tetracycline analogue having a dimethylamino group at position 7 and lacking the methyl and hydroxy groups at position 5." "PMID:22330257 DrugBank:DB01017 Patent:WO2008104734 Drug_Central:1813 PMID:31733348 LIPID_MAPS_instance:LMPK07000002 PMID:31719236 PMID:34232283 CAS:10118-90-8 KNApSAcK:C00018686 PMID:28709717 Chemspider:16735907 Reaxys:3077644 KEGG:C07225 HMDB:HMDB0015152 PDBeChem:MIY Patent:US3226436 PMID:34636517 KEGG:D05045 PMID:31630007 PMID:33568043" "OBSOLETE. A hyperopia that is part of a larger syndrome." "Orphanet:98622" "MESH:C562798 SCTID:237933007 GARD:4522 MEDGEN:90993 UMLS:C0342700 Orphanet:2967 OMIM:193090" "ICD10:Q69.2" @@ -18672,7 +18553,7 @@ "MEDGEN:863950 UMLS:C4015513 DOID:0081357 OMIM:616209 GARD:17794 Orphanet:457050" - "Excess production of adrenal cortex hormones." "UMLS:C0001622 MeSH:D000308 MEDGEN:7899 MESH:D000308 SCTID:275437005 MONDO:0006640 DOID:3947 ICD9:255.3 HP:0003118" + "Excess production of adrenal cortex hormones." "HP:0003118 MeSH:D000308 MESH:D000308 MONDO:0006640 SCTID:275437005 DOID:3947 ICD9:255.3 UMLS:C0001622 MEDGEN:7899" "A benign, well circumscribed neoplasm that arises from the breast. Representative examples include apocrine adenoma, tubular adenoma, and pleomorphic adenoma." "NCIT:C40382 DOID:1625 UMLS:C1328385 MEDGEN:231286" "GARD:12829 Orphanet:411703 icd11.foundation:1798822437 MEDGEN:758704 UMLS:C3472679 NORD:1887" "A benign neoplasm that arises from the vulva and is characterized by the presence of nests of monomorphic basaloid cells forming small cysts that contain keratin." "UMLS:C1520100 DOID:2080 NCIT:C40314 MEDGEN:274418" @@ -18763,7 +18644,6 @@ "A benign, partly cystic, epithelial tumor of the sellar region, presumably derived from Rathke pouch epithelium. It affects mainly children and young adults. There are two clinicopathological forms: adamantinomatous craniopharyngioma and papillary craniopharyngioma. The most significant factor associated with recurrence is the extent of surgical resection, with lesions greater than 5 cm in diameter carrying a markedly worse prognosis. (Adapted from WHO)" "NANDO:2200091 NCIT:C2964 GARD:0010486 NORD:1996 MONDO:0018907 DOID:3840 Orphanet:54595 SCTID:189179009 UMLS:C0010276 MedDRA:10011318 MESH:D003397 EFO:1000209 ICD10:D44.4 GARD:10486 ICDO:9350/1 MEDGEN:41339 ICD9:237.0" - "A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)" "SNOMEDCT:1212005 MESH:C538250 MedDRA:10078425 GARD:6805 OMIM:160750 MEDGEN:120486 icd11.foundation:1428089375 MESH:C000598745 DOID:14203 Orphanet:93672 NCIT:C27576 UMLS:C0263666 NCIt:C27576 MONDO:0008054 NANDO:2200418 MedDRA:10008521 SCTID:1212005" "A small cell sarcoma that is characterized by the absence of EWSR1 rearrangement and the presence of small round malignant cells with a small amount of cytoplasm." "DOID:0081249 MEDGEN:1714743 NCIT:C165671 UMLS:C5237359" "A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase." "UMLS:C0494475 SNOMEDCT_US:54200006" "The thickening of the wall of the small arteries and arterioles. It is caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy. It results in lumen narrowing and tissue ischemia. [ NCI ]" "MEDGEN:209223 ICD10CM:I70 MESH:D050379 SNOMEDCT:17941002 NCIt:C35543 MeSH:D050379 UMLS:C0878486 MONDO:0006658 DOID:5162 NCIT:C35543" @@ -18788,7 +18668,7 @@ "A condition that is caused by infection with Variola, and that is characterized by small, raised bumps." "UMLS:C0037354 MESH:D012899 ICD9:050 NCIT:C35027 ICD10CM:B03 ICD9:050.9 icd11.foundation:2054716425 SCTID:67924001 MEDGEN:20785 DOID:8736" - "A racemate comprising of equal amounts of (R)-bicalutamide and (S)-bicalutamide. It is an oral non-steroidal antiandrogen used in the treatment of prostate cancer and hirsutism." "PMID:31099426 Beilstein:5364666 PMID:18062751 KEGG:C08160 PMID:12421104 HMDB:HMDB0015260 PMID:23527766 Patent:EP100172 MeSH:C053541 Drug_Central:367 PMID:12017896 PMID:30784326 SNOMEDCT:386908000 SNOMEDCT:108766001 Patent:US4636505 PMID:17313204 LINCS:LSM-1437 KEGG:D00961 DrugBank:DB01128 PMID:11915584 PMID:12015321 PMID:15509184 PMID:19194583 CAS:90357-06-5 Wikipedia:Bicalutamide PMID:12959312 Reaxys:5364666 NCIt:C1599" + "A racemate comprising of equal amounts of (R)-bicalutamide and (S)-bicalutamide. It is an oral non-steroidal antiandrogen used in the treatment of prostate cancer and hirsutism." "PMID:31099426 PMID:18062751 KEGG:C08160 PMID:12421104 HMDB:HMDB0015260 PMID:23527766 Patent:EP100172 MeSH:C053541 Drug_Central:367 PMID:12017896 PMID:30784326 SNOMEDCT:386908000 SNOMEDCT:108766001 Patent:US4636505 PMID:17313204 LINCS:LSM-1437 KEGG:D00961 DrugBank:DB01128 PMID:11915584 PMID:12015321 PMID:15509184 PMID:19194583 CAS:90357-06-5 Wikipedia:Bicalutamide PMID:12959312 Reaxys:5364666 NCIt:C1599" "A neoplasm (disease) that involves the brainstem." "MeSH:D020295 MONDO:0021228 UMLS:C0677866 MEDGEN:146207 SNOMEDCT:126961004 Orphanet:36414 NCIt:C4869 NCIT:C4869" "The amount of a PC(14:0_18:1) when measured in blood serum." "A rare benign or malignant mesenchymal neoplasm arising from cells that resemble the modified smooth muscle cells of the glomus body. The majority of glomus tumors occur in the distal extremities." "ICD9:239.7 GARD:21626 ICDO:8711/0 MESH:D005918 Orphanet:391651 MEDGEN:4903 DOID:2431 UMLS:C0017653 NCIT:C3060 SCTID:403969002" @@ -18824,7 +18704,6 @@ "MeSH:D048168" - "A primary systemic vasculitis of small- and some medium-sized vessels. It is characterized by a tropism for kidneys and lungs, positive association with anti-neutrophil cytoplasmic antibodies (ANCA), and a paucity of immunoglobulin deposits in vessel walls." "MEDGEN:389393 UMLS:C2347126 ICD10:M31.7 MESH:D055953 Orphanet:727 icd11.foundation:999231798 GARD:3652 NCIT:C70549 NANDO:1200262 ICD10CM:M31.7 MeSH:D055953 NANDO:2200426 SCTID:239928004 MedDRA:10063344 MONDO:0019124" "MeSH:D002607 MeSH:D015417 OMIM:118220 DOID:10595 OMIM:118200" "The amount of a uncharacterized protein C19orf18 (human) when measured in blood serum." @@ -18932,7 +18811,7 @@ "A form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." "Orphanet:75496 DOID:0050802 SCTID:720861000 GARD:9991 MESH:C536201" "Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB) occurring in childhood or young adulthood." "MEDGEN:930393 UMLS:C4304724 SCTID:719432000 Orphanet:79406 GARD:12921" "Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age." "DOID:0112320 UMLS:C5437471 NANDO:1200137 icd11.foundation:1639349183 SCTID:880066000 GARD:3903 MEDGEN:1772900 Orphanet:79281" - "An aryloxypyrimidine having a 4,6-diphenoxypyrimidine skeleton in which one of the phenyl rings is cyano-substituted at C-2 and the other carries a 2-methoxy-1-(methoxycarbonyl)vinyl substituent, also at C-2. An inhibitor of mitochondrial respiration by blocking electron transfer between cytochromes b and c1, it is used widely as a fungicide in agriculture." "PMID:25090100 PMID:24125711 PMID:24405376 PMID:21884765 Pesticides:azoxystrobin PMID:25011117 PMID:21671616 PMID:24726979 Wikipedia:Azoxystrobin PMID:24700092 PMID:25196149 Beilstein:8350244 PDBeChem:AZO PPDB:54 CAS:131860-33-8 PMID:22278367 PMID:22092932 KEGG:C18558 PMID:22224459 PMID:20818521 PMID:21777591 Patent:US5395837 PMID:21153804 Reaxys:8350244 Patent:EP382375" + "An aryloxypyrimidine having a 4,6-diphenoxypyrimidine skeleton in which one of the phenyl rings is cyano-substituted at C-2 and the other carries a 2-methoxy-1-(methoxycarbonyl)vinyl substituent, also at C-2. An inhibitor of mitochondrial respiration by blocking electron transfer between cytochromes b and c1, it is used widely as a fungicide in agriculture." "PMID:25090100 PMID:24125711 PMID:24405376 PMID:21884765 Pesticides:azoxystrobin PMID:25011117 PMID:21671616 PMID:24726979 Wikipedia:Azoxystrobin PMID:24700092 PMID:25196149 PDBeChem:AZO PPDB:54 CAS:131860-33-8 PMID:22278367 PMID:22092932 KEGG:C18558 PMID:22224459 PMID:20818521 PMID:21777591 Patent:US5395837 PMID:21153804 Reaxys:8350244 Patent:EP382375" "Human melanoma cell line" "The amount of a UL16-binding protein 2 when measured in blood." "PMID:37794183" @@ -18996,7 +18875,6 @@ "Any of the immature forms of a neutrophil in which neutrophilic specific granules are present but other phenotypic features of the mature form may be lacking." "ZFA:0009328" "Lymphoblastoid cell line from a Mende female from Sierra Leone" "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03097&Product=CC" "The amount of a DNA polymerase epsilon subunit 3 when measured in blood serum." - "A picogram is a mass unit which is equal to 1 gram x 10^-12" "MO:363 NCIt:C64551 SNOMEDCT:258687006" "Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy." "GARD:9198 icd11.foundation:1498789307 SCTID:717014003 MESH:C535417 MEDGEN:375107 Orphanet:99943 DOID:0110157 OMIM:607736 UMLS:C1843153" "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has_material_basis_in compound heterozygous mutation in the CENPF gene on chromosome 1q41." "GARD:17945 DOID:0110595 Orphanet:444069 UMLS:C1855705 MEDGEN:340938 MONDO:0009477 OMIM:243605 OMIM:616369 Orphanet:506307 MeSH:C565460 ICD10:Q87.8 MESH:C565460" @@ -19028,7 +18906,7 @@ "A cavernous hemangioma arising from the face." "MEDGEN:234097 EFO:1000152 MONDO:0003645 NCIT:C7053 UMLS:C1332863 HP:0007486 DOID:5776" "Quantification of the ratio of 3-Indolepropionic acid to 3,3',5-Triiodo-L-thyronine ratio in a sample." "PMID:33634981" "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA (see this term) characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages." "OMIM:605714 ICD10:I68.0* ICD10:E85.4+" - "The aldehyde formed from acetic acid by reduction of the carboxy group. It is the most abundant carcinogen in tobacco smoke." "PMID:5526694 PMID:4239189 Gmelin:779 PMID:2233695 PMID:24326678 PDBeChem:ACE PMID:16485909 PMID:19396661 PMID:11290854 PMID:24503565 KEGG:C00084 PMID:9171333 HMDB:HMDB0000990 PMID:24282063 LINCS:LSM-37193 PMID:15239123 PMID:11058591 PMID:11087437 PMID:15833031 Reaxys:505984 PMID:110589 PMID:7163973 PMID:16404561 UM-BBD_compID:c0160 PMID:18001279 Wikipedia:Acetaldehyde PMID:6036728 KNApSAcK:C00007392 Beilstein:505984 CAS:75-07-0" + "The aldehyde formed from acetic acid by reduction of the carboxy group. It is the most abundant carcinogen in tobacco smoke." "PMID:5526694 PMID:4239189 Gmelin:779 PMID:2233695 PMID:24326678 PDBeChem:ACE PMID:16485909 PMID:19396661 PMID:11290854 PMID:24503565 KEGG:C00084 PMID:9171333 HMDB:HMDB0000990 PMID:24282063 LINCS:LSM-37193 PMID:15239123 PMID:11058591 PMID:11087437 PMID:15833031 Reaxys:505984 PMID:110589 PMID:7163973 PMID:16404561 UM-BBD_compID:c0160 PMID:18001279 Wikipedia:Acetaldehyde PMID:6036728 KNApSAcK:C00007392 CAS:75-07-0" "Quantification of ras-related protein Rab-39B in a sample." "PMID:29875488" "CS57705 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158729&type=germplasm" @@ -19049,7 +18927,7 @@ "GARD:18670 MEDGEN:1648429 UMLS:C4748269 OMIM:618120 DOID:0070463" "A malignant neoplasm that has spread to the brain from another anatomic site." "MEDGEN:113095 UMLS:C0220650" - "A member of the class of benzimidazoles that is 1,3-dihydro-2H-benzimidazol-2-one in which one of the nitrogens is substituted by a piperidin-4-yl group, which in turn is substituted on the nitrogen by a 4,4-bis(p-fluorophenyl)butyl group." "HMDB:HMDB0015232 KEGG:D00560 LINCS:LSM-2001 CAS:2062-78-4 MeSH:D010868 KEGG:C07566 Wikipedia:Pimozide SNOMEDCT:108438008 Beilstein:729089 SNOMEDCT:386848009 DrugBank:DB01100 Reaxys:729089 NCIt:C47672 Drug_Central:2172" + "A member of the class of benzimidazoles that is 1,3-dihydro-2H-benzimidazol-2-one in which one of the nitrogens is substituted by a piperidin-4-yl group, which in turn is substituted on the nitrogen by a 4,4-bis(p-fluorophenyl)butyl group." "HMDB:HMDB0015232 KEGG:D00560 LINCS:LSM-2001 CAS:2062-78-4 MeSH:D010868 KEGG:C07566 Wikipedia:Pimozide SNOMEDCT:108438008 SNOMEDCT:386848009 DrugBank:DB01100 Reaxys:729089 NCIt:C47672 Drug_Central:2172" "The amount of a DNA topoisomerase 2-binding protein 1 when measured in blood serum." "OMIM:618109 GARD:22578 MEDGEN:1648401 DOID:0081226 UMLS:C4748219" @@ -19059,13 +18937,11 @@ "A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts (MeSH)." "OMIM:616208 MedDRA:10002026 OMIM:105400 OMIM:617839 MedDRA:10052889 OMIM:617921 NCIt:C34373 SNOMEDCT:86044005 MeSH:D000690 OMIM:617892 DOID:332 ORDO:Orphanet_803 ICD9:335.20 NIFSTD:birnlex_12566 OMIM:105500" - "A base unit which is a standard measure of the wavelength-weighted power emitted by a light source in a particular direction." "Abnormal (non-physiological) constriction of the pupil." "UMLS:C0026205 SNOMEDCT_US:63251006" "The amount of a max-interacting protein 1 when measured in blood serum." "Hearing loss caused by impaired transmission of signals from the external auditory canal or middle ear to the cochlea." "NCIT:C27645 MEDGEN:9163 UMLS:C0018777 SCTID:44057004" "LP/J mice display a high susceptibility to audiogenic seizures. This strain is also reported to have a fairly high incidence of tumors that develop later in life, including mammary tumors, lymphoma, lung and soft-tissue sarcomas. LP/J mice are also homozygous for the spontaneous mutation piebald in the endothelin receptor type B gene (Ednrbs). The piebald spontaneous mutation is the result of a mutation in the endothelin receptor type B gene, Ednrb. Mice show irregular white spotting, the amount of which is greatly influenced by minor modifying genes. They also have dark eyes. The white areas of the coat are completely lacking in neural crest-derived melanocytes, and there is a reduction in the number of melanocytes in the choroid layer of the eye." - "Infections with bacteria of the genus BORRELIA." "MedDRA:10061591 MEDGEN:2325 UMLS:C0006035 MeSH:D001899 MESH:D001899 DOID:11730 MONDO:0006681" "A congenic strain in which the donor allele transferred to the host strain background is a minor histocompatibility gene." "human breast carcinoma cell line human breast carcinoma cell line established from the pleural effusion of the left side from a 46-year-old Caucasian woman with metastasizing breast adenocarcinoma in 1985 (DSMZ catalog number ACC 258)" @@ -19116,7 +18992,7 @@ "A cardinal organ part that is the central column of a plant axis that consists of the primary vascular tissue and associated ground tissue." "Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease." "ICD10:H35.0 OMIM:617341 OMIM:612199" - "An arrangement of nerve fibers, running from the spine where it proceeds through the neck then the axilla and into the arm where it innervates skin and muscle. [WP,modified]." "UMLS:C0006090 EHDAA:3782 FMA:5906 VHOG:0000372 NCIT:C12682 MA:0001180 GAID:842 EMAPA:16988 EHDAA2:0000180 SCTID:181002002 MESH:D001917 Wikipedia:Brachial_plexus" + "An arrangement of nerve fibers, running from the spine where it proceeds through the neck then the axilla and into the arm where it innervates skin and muscle. [WP,modified]." "UMLS:C0006090 EHDAA:3782 FMA:5906 VHOG:0000372 NCIT:C12682 MA:0001180 GAID:842 EMAPA:16988 EHDAA2:0000180 MESH:D001917 SCTID:181002002 Wikipedia:Brachial_plexus" "The autosomal dominant form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported." "MEDGEN:541286 DOID:14756 UMLS:C0268339 OMIM:130050" "A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. Radiation exposure is a risk factor and it is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries. Diagnostic procedures include thyroid ultrasound and fine needle biopsy. Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei. The nuclei also display clearing or have a ground glass appearance." "MEDGEN:66773 ONCOTREE:THPA NCIT:C4035 UMLS:C0238463 DOID:3969 HP:0002895 GARD:0012027 EFO:0000641 OMIM:188550 MONDO:0005075 SCTID:255029007" "UMLS:C0796123 OMIM:212710 MeSH:C538283" @@ -19145,7 +19021,7 @@ "The downward displacement of the cuspal or pointed end of the trileaflet aortic valve causing misalignment of the cusps. Severe valve distortion can cause leakage and allow the backflow of blood from the ascending aorta back into the left ventricle, leading to aortic regurgitation." "MEDGEN:1619 MONDO:0006655 MedDRA:10057454 DOID:5232 MESH:D001023 MeSH:D001023 UMLS:C0003505" "Quantification of the amount of erythrose in a sample." "PMID:24816252" "A Pseudomonas aeruginosa CF5 infection is a Pseudomonas infection of strain CF5." "MONDO:0005142" - "A member of the class of pyrazolidines that is 1,2-diphenylpyrazolidine-3,5-dione carrying a butyl group at the 4-position." "PMID:22245664 PMID:13048452 LINCS:LSM-2219 PMID:21668837 PMID:19614844 PMID:20176071 VSDB:1775 PMID:23525812 PMID:13010905 Wikipedia:Phenylbutazone KEGG:D00510 PDBeChem:P1Z PMID:26808199 PMID:25287371 Reaxys:290080 Beilstein:290080 PMID:12692637 PMID:22180948 PMID:23369749 Drug_Central:2145 DrugBank:DB00812 KEGG:C07440 PMID:13747451 CAS:50-33-9 PMID:3425858 PMID:11264893 PMID:7655439 PMID:26090772 HMDB:HMDB0014950 PMID:22082440" + "A member of the class of pyrazolidines that is 1,2-diphenylpyrazolidine-3,5-dione carrying a butyl group at the 4-position." "PMID:22245664 PMID:13048452 LINCS:LSM-2219 PMID:21668837 PMID:19614844 PMID:20176071 VSDB:1775 PMID:23525812 PMID:13010905 Wikipedia:Phenylbutazone KEGG:D00510 PDBeChem:P1Z PMID:26808199 PMID:25287371 Reaxys:290080 PMID:12692637 PMID:22180948 PMID:23369749 Drug_Central:2145 DrugBank:DB00812 KEGG:C07440 PMID:13747451 CAS:50-33-9 PMID:3425858 PMID:11264893 PMID:7655439 PMID:26090772 HMDB:HMDB0014950 PMID:22082440" "A hemangioma with cavernous vascular spaces arising from the liver. It is the most frequent benign tumor of the liver and usually affects young females." "NCIt:C96839" "The amount of a telethonin when measured in blood serum." @@ -19224,7 +19100,6 @@ "An aggressive granulosa cell tumor that arises from the ovary and metastasizes to other anatomic sites." "SCTID:254861002 NCIT:C8403 icd11.foundation:148207042 UMLS:C0346175 Orphanet:99915 MEDGEN:138043 GARD:19707" "The amount of a signal-regulatory protein beta-2 when measured in blood serum." - "A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus, which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis." "ICD9:062.0 Orphanet:79139 MeSH:D004672 MEDGEN:4032 MedDRA:10014596 NORD:1088 MONDO:0019209 MedDRA:10023123 MESH:D004672 DOID:10844 NCIT:C34577 UMLS:C0014057 GARD:6797 icd11.foundation:961032639 SCTID:52947006" "UMLS:C1839783 UMLS:C4280583 UMLS:C4280584" "KEGG:C16453 CAS:64091-91-4 Beilstein:3548355" @@ -19279,7 +19154,7 @@ "This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss." "UMLS:C1834579 MESH:C563549 GARD:3873 MEDGEN:331780 OMIM:159800 Orphanet:2589" "A abnormal increase in the inflammatory response to injury or infection." "UMLS:C4022803" - "A tertiary amino compound that is N,N-dimethylethanamine substituted at position 1 by a 1-hydroxycyclohexyl and 4-methoxyphenyl group." "PMID:11098420 HMDB:HMDB0005016 Drug_Central:2813 PMID:12409680 Wikipedia:Venlafaxine KEGG:C07187 KEGG:D08670 Beilstein:4234848 PMID:18321472 Reaxys:4234848 LINCS:LSM-1616 DrugBank:DB00285 CAS:93413-69-5" + "A tertiary amino compound that is N,N-dimethylethanamine substituted at position 1 by a 1-hydroxycyclohexyl and 4-methoxyphenyl group." "PMID:11098420 HMDB:HMDB0005016 Drug_Central:2813 PMID:12409680 Wikipedia:Venlafaxine KEGG:C07187 KEGG:D08670 PMID:18321472 Reaxys:4234848 LINCS:LSM-1616 DrugBank:DB00285 CAS:93413-69-5" "Inbred strain." "TGEMO:00114 MGI:2159897" @@ -19445,7 +19320,7 @@ "OMIM:619773 MEDGEN:1802205 UMLS:C5676929" "Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur." "OMIM:615095 Orphanet:329228 SCTID:724141003 MEDGEN:767413 DOID:0070294 GARD:17498 UMLS:C3554499" "A cholesteatoma (disease) that involves the external ear." "ICD10CM:H60.4 UMLS:C0155398 MONDO:0006532 MEDGEN:509952 DOID:9462 ICD9:380.21 MedDRA:10008644 SCTID:35247001" - "An alkaloid that is a carbotricyclic compound comprising 5,6,7,9-tetrahydrobenzo[a]heptalene having four methoxy substituents at the 1-, 2-, 3- and 10-positions as well as an oxo group at the 9-position and an acetamido group at the 7-position. It has been isolated from the plants belonging to genus Colchicum." "CAS:54192-66-4 LINCS:LSM-6449 PMID:10680067 SNOMEDCT:387413002 Reaxys:2228812 HMDB:HMDB0015466 PMID:9819133 SNOMEDCT:73133000 NCIt:C385 MeSH:D003078 Beilstein:2228812 DrugBank:DB01394 PMID:7200520 PMID:24074178" + "An alkaloid that is a carbotricyclic compound comprising 5,6,7,9-tetrahydrobenzo[a]heptalene having four methoxy substituents at the 1-, 2-, 3- and 10-positions as well as an oxo group at the 9-position and an acetamido group at the 7-position. It has been isolated from the plants belonging to genus Colchicum." "CAS:54192-66-4 LINCS:LSM-6449 PMID:10680067 SNOMEDCT:387413002 Reaxys:2228812 HMDB:HMDB0015466 PMID:9819133 SNOMEDCT:73133000 NCIt:C385 MeSH:D003078 DrugBank:DB01394 PMID:7200520 PMID:24074178" "A disorder characterized by aching or burning sensations in the lower and rarely the upper extremities that occur prior to sleep or may awaken the patient from sleep. Complying with an irresistible urge to move the affected limbs brings temporary relief. Sleep may become disrupted, resulting in excessive daytime hypersomnolence. This condition may be associated with UREMIA; DIABETES MELLITUS; and rheumatoid arthritis. Restless Legs Syndrome differs from NOCTURNAL MYOCLONUS SYNDROME in that in the latter condition the individual does not report adverse sensory stimuli and it is primarily a sleep-associated movement disorder. (Adams et al., Principles of Neurology, 6th ed, p387; Schweiz Rundsch Med Prax 1997 Apr 30;86(18):732-736)." "MeSH:D012148 NCIT:C84501 MedDRA:10058920 ICD9:333.99 MONDO:0005391 SNOMEDCT:32914008 DOID:0050425 SCTID:32914008 icd11.foundation:1254916765 OMIM:611185 OMIM:612853 ICD9:333.94 MEDGEN:48427 UMLS:C0035258 MESH:D012148 ICD10CM:G25.81" "2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism." "SCTID:719658006 GARD:3746 Orphanet:1617 UMLS:C2931816 MESH:C538316 MEDGEN:419168" @@ -19499,7 +19374,6 @@ "The amount of a small ribosomal subunit protein eS12 when measured in blood serum." "The amount of a collagen alpha-1(I) chain when measured in blood serum." "Stage II follicles (140-340 microns) are cortical alveolus stage. Selman et al, 1993." "ZFA:0001265" - "Inflammation of the extraocular muscle of the eye. It is characterized by swelling which can lead to ischemia, fibrosis, or ORBITAL PSEUDOTUMOR." "UMLS:C2350476 NCIt:C117296 SNOMEDCT:80698001 MedDRA:10031050 NCIT:C117296 ICD10:H05.12 SCTID:80698001 MeSH:D055622 MONDO:0100550 ICD9:376.12 MEDGEN:389999" "A primary or metastatic malignant neoplasm involving the vagina. Representative examples include carcinomas and sarcomas." "MESH:D014625 DOID:119 NCIT:C7410 SCTID:363445000 ICD9:184.0 MEDGEN:12040 UMLS:C0042237" "The amount of a protein MTSS 1 when measured in blood." "PMID:37794183" "Tumors or cancer of the SKIN." "UMLS:C0037286 ONCOTREE:SKIN ICD10:C44 DOID:3165 SCTID:126488004 ICD10:D04 NCIT:C3372 ICD10:D23 MESH:D012878 ICD9:239.2 MONDO:0002531 DOID:4159 MeSH:D012878 MEDGEN:19993 NCIt:C3372" @@ -19575,7 +19449,6 @@ "Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia." "OMIM:239800 ICD10:Q87.0 UMLS:C0220742" "A malignant neoplasm involving the ureter" "MEDGEN:102281 MESH:D014516 ICD10CM:C66 ICD9:189.2 DOID:11819 OMIM:191600 NCIT:C7543 SCTID:363458004 UMLS:C0153619" - "A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia." "UMLS:C0041466 icd11.foundation:1528414070 NCIT:C35089 MeSH:D014435 MedDRA:10045275 ICD9:002.0 Orphanet:99745 GARD:9564 MEDGEN:11973 NCIt:C35089 MESH:D014435 MONDO:0005619 SNOMEDCT:4834000 SCTID:4834000 DOID:13258" "A methanesulfonate ester resulting from the formal condensation of methanesulfonic acid with methanol." "PMID:22907509 MeSH:D008741 PMID:14761437 PMID:11016630 Wikipedia:Methyl_methanesulfonate PMID:23117069 PMID:23483329 CAS:66-27-3 KEGG:C19181 NCIt:C44399 PMID:21353429 PMID:16764919 Reaxys:1098586 PMID:23384783 PMID:21860482 MetaCyc:CPD-7038" "Quantification of lysyl oxidase homolog 2 in a sample." "PMID:29875488" "BTO:0000736 CLO:0002334 RRID:CVCL_0207" @@ -19629,7 +19502,7 @@ "The terminal part of the intestine from the sigmoid flexure to the anus." "BTO:0001158 TGMA:0001028 TADS:0000166 EHDAA:5836 EV:0100081 XAO:0000238 FMA:14544 MAT:0000050 SAEL:88 EMAPA:17896 WBbt:0005773 FBbt:00005756 MA:0000336" "UMLS:C5680524 MEDGEN:1843283 Orphanet:189466 GARD:17088" - "A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis." "MEDGEN:458884 Orphanet:497188 NCIT:C94764 GARD:0013075 MONDO:0006033 GARD:13075 ONCOTREE:DIPG EFO:1000026 UMLS:C2986658 MESH:D000080443" + "A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis." "Orphanet:497188 MEDGEN:458884 NCIT:C94764 GARD:0013075 MONDO:0006033 GARD:13075 ONCOTREE:DIPG EFO:1000026 UMLS:C2986658 MESH:D000080443" "Quantification of 26S proteasome non-ATPase regulatory subunit 4 in a sample." "PMID:29875488" "The familial amyloid neuropathies are a rare group of autosomal dominant neuropathies of autonomic and peripheral nerves." "NCIT:C84554 SCTID:42295001 ICD10EXP:G63.3* MESH:C567782 icd11.foundation:807065795 ICD10EXP:E85.1+ ICD9:277.39 MONDO:0007100 NANDO:1200214 UMLS:C0206245 DOID:0050761 OMIM:105210 GARD:21017 DOID:0050638 NCIt:C84554 MEDGEN:104815 OMIMPS:105210 NANDO:1201060 Orphanet:271861" @@ -19643,7 +19516,6 @@ "A unit which is a standard measure of physical quantity consisting of only a numerical number without any units." "The treatment involving growing plants and exposing them to soil growth media with varying contents." "ICD9:277.6 Orphanet:440713 SCTID:124309005 OMIM:617213 UMLS:C1291373 GARD:18652 MEDGEN:713680" - "A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see GAIT DISORDERS, NEUROLOGIC), progressive intellectual decline, and URINARY INCONTINENCE. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of CSF including SUBARACHNOID HEMORRHAGE, chronic MENINGITIS, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)" "SCTID:30753002 MESH:D006850 MedDRA:10029773 SNOMEDCT:30753002 OMIM:236690 Orphanet:314928 MeSH:D006850 ICD9:331.5 DOID:1572 MONDO:0009366 UMLS:C0020258 MEDGEN:42526" "Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips." "icd11.foundation:11235593 GARD:19675 UMLS:C4274470 Orphanet:99176 SCTID:715769008 MEDGEN:894858" "Denotes the inhabitants of Japan, a person from there, or their descendants elsewhere." "SNOMEDCT:414551003 NCIt:C43392" "An N-monoacetylalkane-alpha,omega-diamine that is the N-monoacetyl derivative of putrescine." "PMID:10198034 PMID:7663691 PMID:3627168 PMID:7092834 PMID:7406885 PMID:7817785 PMID:8441357 PMID:894508 Reaxys:1749697 CAS:5699-41-2 PMID:8955325 PMID:16232710 PMID:6257381 PMID:2775189 CAS:18233-70-0 PMID:197226 PMID:7630314 PMID:15073218 PMID:23081916 HMDB:HMDB0002064 PMID:2320051 MetaCyc:CPD-569 PMID:22770225 KEGG:C02714" @@ -19660,7 +19532,7 @@ "Quantification of the ratio of 3-Indolepropionic acid to L-Ornithine ratio in a sample." "PMID:33634981" "Birt-Hogg-Dube (BHD) syndrome is characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. It is a rare clinicopathologic condition named after the three Canadian physicians who reported the syndrome in 1977." "ICD9:704.8 OMIM:135150 Orphanet:122 SCTID:110985001 MedDRA:10067736 NCIT:C28244 GARD:0002322 MESH:D058249 UMLS:C0346010 EFO:1001273 DOID:0050676" "Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces." "MedDRA:10041552 MeSH:D013119" - "A device that is used for automated liquid transfer and handling." "MO:868" + "A device that is used for automated liquid transfer and handling."@en "MO:868" "The amount of a chymotrypsin-like elastase family member 3B when measured in blood serum." "The amount of a MIT domain-containing protein 1 when measured in blood." "PMID:37794183" @@ -19668,7 +19540,7 @@ "The transparent part of the coat of the eyeball that covers the iris and pupil and admits light to the interior." "MeSH:D003315 BTO:0000286 NCIt:C12342" "A common myeloid progenitor that is Kit-positive and CD34-positive, Il7ra-negative, and is SCA1-low and Fcgr2-low and Fcgr3-low." "This melanoma cell line was derived from a metastatic axillary node of the skin of a 24 year old female. It is a hyperpentaploid human cell line with the modal chromosome number of 120, occurring in 9% of cells. [PMID: 1067619]" "BTO:0002134 PMID:12828737 NCIt:C117190 CLO:0009047 RRID:CVCL_0527" - "A dicarboxylic acid monoanion resulting from the removal of a proton from one of the carboxy groups of succinic acid." "Reaxys:3904279 Gmelin:325292 Beilstein:3904279" + "A dicarboxylic acid monoanion resulting from the removal of a proton from one of the carboxy groups of succinic acid." "Reaxys:3904279 Gmelin:325292" "Quantification of inosine levels in a sample." "PMID:23823483" "The amount of a septin-11 when measured in blood serum." "Organic aromatic compounds having one or more hydroxy groups attached to a benzene or other arene ring." "KEGG:C15584 MetaCyc:Phenols Wikipedia:Phenols" @@ -19825,7 +19697,7 @@ "The end-stage of CHRONIC RENAL INSUFFICIENCY. It is characterized by the severe irreversible kidney damage (as measured by the level of PROTEINURIA) and the reduction in GLOMERULAR FILTRATION RATE to less than 15 ml per min (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002). These patients generally require HEMODIALYSIS or KIDNEY TRANSPLANTATION." "ICD10:N18 ICD9:585 NCIt:C80078 UMLS:C1561643 icd11.foundation:412389819 DOID:784 NCIT:C80078 MESH:D007676 MeSH:D007676 MONDO:0005300 MEDGEN:473458 NANDO:2100023 SCTID:709044004 MedDRA:10038444 SNOMEDCT:90688005 ICD9:585.6 ICD10CM:N18.9 SNOMEDCT:46177005 MedDRA:10064848 MeSH:D051436 NANDO:2100008" "The amount of a copine-7 when measured in blood serum." "The process in which a myeloid precursor cell acquires specializes features of an erythrocyte." "Wikipedia:Erythropoiesis" - "An oxodicarboxylic acid that is succinic acid bearing a single oxo group." "PMID:4014670 MetaCyc:OXALACETIC_ACID LIPID_MAPS_instance:LMFA01170061 PMID:28322963 Beilstein:1705475 CAS:328-42-7 Gmelin:1042886 KEGG:C00036 Reaxys:1705475 PMID:15710237 PMID:21825143 PMID:19793063 PMID:17190852 HMDB:HMDB0000223 Patent:US2011064679 Wikipedia:Oxaloacetic_acid PMID:8422384 PMID:22451473 KNApSAcK:C00001197 PDBeChem:OAA" + "An oxodicarboxylic acid that is succinic acid bearing a single oxo group." "PMID:4014670 MetaCyc:OXALACETIC_ACID LIPID_MAPS_instance:LMFA01170061 PMID:28322963 CAS:328-42-7 Gmelin:1042886 KEGG:C00036 Reaxys:1705475 PMID:15710237 PMID:21825143 PMID:19793063 PMID:17190852 HMDB:HMDB0000223 Patent:US2011064679 Wikipedia:Oxaloacetic_acid PMID:8422384 PMID:22451473 KNApSAcK:C00001197 PDBeChem:OAA" "UMLS:C5676926 MEDGEN:1804752 OMIM:619764" "SCTID:23876003 GARD:21209 icd11.foundation:1926945459 ICD9:755.59 UMLS:C0265562 MEDGEN:539331 Orphanet:295030" "This primordium first becomes distinct at around stage 11 as a group of cells at the posterior tip of the visceral mesoderm (the tail end of the germ-band). During germ-band retraction these cells migrate anteriorly and split into two clusters - one on either side of the posterior midgut primordium. When these cell reach the anterior tip of the posterior midgut primordium they disperse anteriorly as two rows along the germband. Finally, during midgut closure these cells spread regularly over the underlying circular visceral muscle primordium." "FBbt:00017008" @@ -19862,9 +19734,7 @@ "OMIM:250800 ICD10:D74.0" "An abnormality of the concentration of glucose in the blood." "UMLS:C4023597" "Duane syndrome type 3 is a disorder of eye movement.The affected eye, or eyes, has limited ability to move both inward toward the nose and outward toward the ears. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. About 15 percent of all cases of Duane syndrome are type 3. Most cases occur without other signs and symptoms.In most people with Duane syndrome type 3, the cause is unknown; but it can sometimes be caused by mutations in the CHN1 gene and inherited in an autosomal dominant fashion." "GARD:10691 OMIM:617041 MEDGEN:934719 UMLS:C4310752" - "Elephantiasis is a result of a complex interplay between several factors: the worm, the symbiotic Wolbachia bacteria within the worm, the host’s immune response, and the numerous opportunistic infections and disorders that arise." "NCIt:C34569 MESH:D004604 MEDGEN:8582 SCTID:240820001 DOID:4976 MONDO:0005424 MedDRA:10014472 UMLS:C0013882 MeSH:D004604" "The amount of a galactoside alpha-(1,2)-fucosyltransferase 1 when measured in blood." "PMID:37794183" - "a disease that occurs in the vasculature of the eye" "NCIt:C35664 MONDO:0005552 NCIT:C35664 MEDGEN:182689 UMLS:C0948522" "The amount of a ferroxidase HEPHL1 when measured in blood serum." "A tetracarboxylic acid anion formed by deprotonation of all four carboxy groups in ethylenediaminetetraacetic acid (EDTA)." "PMID:34152137 PMID:11370764 Beilstein:3914756 AGR:IND605249959 PMID:22116197 PMID:31704581 AGR:IND601129247 PMID:33811400 Gmelin:144943 CAS:150-43-6 PMID:16472851 PMID:23587055 PMID:34277313 PMID:32821617 PMID:22232891" "Increased size of the vestibular aqueduct." "UMLS:C1863752" @@ -19931,7 +19801,6 @@ "The determination of the amount of vascular cell adhesion protein 1 in a sample" "PMID:28240269" - "A volume is a size quality which describes the amount of 3-dimensional space an object occupies." "PATO:0000918 NCIt:C43320 NCIt:C25335 NIFSTD:sao196989303 NIFSTD:birnlex_2391 SNOMEDCT:118565006" "Surface structure that will develop into one of the median fins. Extends from dorsal surface of fish, caudal to the 8th somite, to the ventral surface ending at the caudal side of the vent." "ZFA:0000040" "Includes the spectrum of human immunodeficiency virus infections that range from asymptomatic seropositivity, thru AIDS-related complex (ARC), to acquired immunodeficiency syndrome (AIDS)." "SNOMEDCT:86406008 NANDO:2200810 NCIt:C3108 SNOMEDCT:19030005 MEDGEN:5583 SCTID:86406008 NCIT:C3108 ICD9:042 SNOMEDCT:72621000119104 MONDO:0005109 MESH:D015658 ICD10:B24 UMLS:C0019693 MedDRA:10020161 DOID:526 ICD9:042-042.99 MeSH:D015658 ICD10CM:B20-B20" @@ -19976,8 +19845,7 @@ "A mature cell of the conventional dendritic cell lineage, characterized by a high capacity for antigen presentation and typically found in a lymph node." "FMA:83038" "Quantification of E3 ubiquitin-protein ligase RNF8 in a sample." "PMID:29875488" "CS57663 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158687&type=germplasm" - "Subepidermal autoimmune bullous diseases of the skin and mucosae comprise a large group of chronic diseases, including bullous pemphigoid, pemphigoid gestationis, mucous membrane pemphigoid, linear IgA bullous dermatosis, epidermolysis bullosa acquisita, and anti-p200 pemphigoid. These diseases are characterized by an antibody response toward structural components of the basement membrane zone, resulting in subepidermal blistering. [ PMID:29159697 ]" "GARD:19028 ICD9:694.9 ICD9:694.8 DOID:8502 MONDO:0019337 UMLS:C5681494 SCTID:7231009 MEDGEN:1842418 Orphanet:79669" - "A urocanate obtained by deprotonation of the carboxy group of trans-urocanic acid; major species at pH 7.3." "Reaxys:5735282 Beilstein:5735282" + "A urocanate obtained by deprotonation of the carboxy group of trans-urocanic acid; major species at pH 7.3." "Reaxys:5735282" "A gamma-delta receptor that expresses Vgamma1.1 but does not express Vdelta6.3 chains in the T-cell receptor." "Disease that occurs as a consequence of immunosuppression in a recipient of a solid organ or bone marrow transplant, or as a consequence of the transplantation." "GARD:21259 Orphanet:306644 UMLS:C1998172 MEDGEN:745174" "The amount of a stromelysin-1 when measured in blood serum." @@ -19989,7 +19857,6 @@ "Quantification of the amount of CCAAT/enhancer-binding protein beta measurement in a sample." "PMID:36168886" "A fluid-filled mass that is a distention of a preexisting bursa in the popliteal fossa, most commonly the gastrocnemio-semimembranosus bursa. This bursa is unique in that it communicates with the knee joint, unlike other periarticular bursae, via an opening in the joint capsule posterior to the medial femoral condyle." "An organic disulfide that is the L-cysteinyl derivative of glutathione." "PMID:6869067 KEGG:C05526 Reaxys:2491977 HMDB:HMDB0000656 PMID:6130452" - "age-related neuropathological condition with severe neuronal cell loss and gliosis in the hippocampus" "MEDGEN:1801569 MONDO:0005544 UMLS:C5691287" "Weakness of the muscles of the legs." "SNOMEDCT_US:249945007 UMLS:C0427068 UMLS:C1836296" "The amount of a epidermal growth factor receptor kinase substrate 8-like protein 2 when measured in blood serum." "The amount of a carbohydrate sulfotransferase 9 when measured in blood serum." @@ -20010,7 +19877,6 @@ "MeSH:C535882 OMIM:147770 ICD10:Q87.8 UMLS:C0796002" "Quantification of complement C1q tumor necrosis factor-related protein 1 in a sample." "PMID:29875488" - "Photosensitivity refers to various symptoms, diseases and conditions caused or aggravated by exposure to sunlight." "MedDRA:10034975 MEDGEN:19281 UMLS:C0031762 MONDO:0006597 SCTID:22649008 MESH:D010787 MedDRA:10034966 DOID:3159" "Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and when untreated substantial visual impairment ." "MedDRA:10064032 OMIM:608696 OMIM:231300 OMIM:137750 OMIM:608695 OMIM:610535 OMIM:611274" @@ -20105,10 +19971,9 @@ "The amount of a bone marrow proteoglycan when measured in blood serum." "The wall of the heart that separates the right atrium and left ventricle; and is located just above the septal cusp of the tricuspid valve." "SCTID:280151006 FMA:7136 Wikipedia:Atrioventricular_septum EMAPA:37431" - "A monoterpenoid with an epoxy-bridged cyclic dicarboxylic anhydride structure secreted by many species of blister beetle, and most notably by the Spanish fly, Lytta vesicatoria. Natural toxin inhibitor of protein phosphatases 1 and 2A." "PMID:21930197 Reaxys:85302 SNOMEDCT:437975006 CiteXplore:20594813 LINCS:LSM-42705 CAS:56-25-7 CiteXplore:22402807 PMID:22380659 CiteXplore:21668865 CiteXplore:21930197 CiteXplore:22001622 CiteXplore:21595743 PMID:22351815 ChEMBL:169448 MeSH:D002193 SNOMEDCT:86218002 PMID:21668865 Beilstein:85302 PMID:20594813 ChemIDplus:56-25-7 Wikipedia:Cantharidin PMID:21907641 CiteXplore:21907641 CiteXplore:22380659 PMID:22402807 CiteXplore:22351815 PMID:21595743 KEGG:C16778 PMID:22001622 CiteXplore:22233030 ChemIDplus:85302 KNApSAcK:C00010979 PMID:22233030" + "A monoterpenoid with an epoxy-bridged cyclic dicarboxylic anhydride structure secreted by many species of blister beetle, and most notably by the Spanish fly, Lytta vesicatoria. Natural toxin inhibitor of protein phosphatases 1 and 2A." "PMID:21930197 Reaxys:85302 SNOMEDCT:437975006 CiteXplore:20594813 LINCS:LSM-42705 CAS:56-25-7 CiteXplore:22402807 PMID:22380659 CiteXplore:21668865 CiteXplore:21930197 CiteXplore:22001622 CiteXplore:21595743 PMID:22351815 ChEMBL:169448 MeSH:D002193 SNOMEDCT:86218002 PMID:21668865 PMID:20594813 ChemIDplus:56-25-7 Wikipedia:Cantharidin PMID:21907641 CiteXplore:21907641 CiteXplore:22380659 PMID:22402807 CiteXplore:22351815 PMID:21595743 KEGG:C16778 PMID:22001622 CiteXplore:22233030 ChemIDplus:85302 KNApSAcK:C00010979 PMID:22233030" "UMLS:C5190514 MEDGEN:1680190 Orphanet:96145 GARD:19327" "Autosomal recessive form of disease." "MEDGEN:539209 UMLS:C0265388 SCTID:85995004 DOID:0050737 MONDO:0006025 ICD9:758.5" - "A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations." "SNOMEDCT:41329004 MEDGEN:19397 MedDRA:10061529 NCIT:C3340 SCTID:441456002 MeSH:D011127 ICD10CM:N84 SNOMEDCT:441456002 MONDO:0005079 MESH:D011127 NCIt:C3340 UMLS:C0032584" "Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly." "UMLS:C1969369 MeSH:C536563 OMIM:174500 ICD10:Q74.8" "The age at which Machado-Joseph disease manifestations first appear." "Catalysis of the reaction: NADP+ + 5,6,7,8-tetrahydropteridine = NADPH + H+ + 6,7-dihydropteridine." "EC:1.5.1.34 MetaCyc:1.5.1.34-RXN Reactome:R-HSA-71130" @@ -20236,7 +20101,7 @@ "SNOMEDCT:13182002" "A cell line derived from human normal fibroblasts." "RRID:CVCL_0237 CLO:0002197 BTO:0002744" - "A monocarboxylic acid that is 1-benzylidene-1H-indene which is substituted at positions 2, 3, and 5 by methyl, carboxymethyl, and fluorine respectively, and in which the phenyl group of the benzylidene moiety is substituted at the para position by a methylsulfinyl group. It is a prodrug for the corresponding sulfide, a non-steroidal anti-inflammatory drug, used particularly in the treatment of acute and chronic inflammatory conditions." "PMID:12406542 PMID:11927004 PDBeChem:SUZ PMID:23689354 PMID:11569947 Wikipedia:Sulindac PMID:19884509 SNOMEDCT:89505005 Beilstein:2951842 Patent:DE2039426 KEGG:C01531 Drug_Central:2534 MeSH:D013467 Patent:US3654349 DrugBank:DB00605 HMDB:HMDB0014743 NCIt:C850 PMID:23804703 PMID:15123337 CAS:38194-50-2 KEGG:D00120 PMID:15020200 SNOMEDCT:387513000 Reaxys:2951842" + "A monocarboxylic acid that is 1-benzylidene-1H-indene which is substituted at positions 2, 3, and 5 by methyl, carboxymethyl, and fluorine respectively, and in which the phenyl group of the benzylidene moiety is substituted at the para position by a methylsulfinyl group. It is a prodrug for the corresponding sulfide, a non-steroidal anti-inflammatory drug, used particularly in the treatment of acute and chronic inflammatory conditions." "PMID:12406542 PMID:11927004 PDBeChem:SUZ PMID:23689354 PMID:11569947 Wikipedia:Sulindac PMID:19884509 SNOMEDCT:89505005 Patent:DE2039426 KEGG:C01531 Drug_Central:2534 MeSH:D013467 Patent:US3654349 DrugBank:DB00605 HMDB:HMDB0014743 NCIt:C850 PMID:23804703 PMID:15123337 CAS:38194-50-2 KEGG:D00120 PMID:15020200 SNOMEDCT:387513000 Reaxys:2951842" "Specialized region of the female egg cytoplasm characterized by the presence of dense organelles (polar granules)." "FBbt:00004891" "An infiltrating malignant soft tissue neoplasm characterized by the presence of immature undifferentiated cells and abundant myxoid stroma formation." "ICDO:8840/3 EFO:1001056 MONDO:0006863 NCIT:C3255 UMLS:C0027155 MEDGEN:6508 MESH:D009236 DOID:4136" "A benign, non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of glycogen-rich epithelial cells which produce a watery fluid. Signs and symptoms include abdominal mass, abdominal pain, nausea, vomiting, and weight loss." "DOID:3917 ONCOTREE:PSC NCIT:C5712 UMLS:C1335316 MEDGEN:233833" @@ -20270,13 +20135,13 @@ "Quantification of the amount of 2-methoxyhydroquinone glucuronide (2) in a sample." "PMID:35347128" "Orphanet:849 NORD:1186 icd11.foundation:1927726560 UMLS:C0040015 MEDGEN:52736 GARD:2478 OMIMPS:273800" - "An L-methionine derivative that is L-methionine in which one of the amine hydrogens is substituted by an acetyl group." "PMID:24769178 PDBeChem:AME PMID:16129491 Beilstein:1725552 PMID:845673 Reaxys:4744969 Reaxys:1725552 CAS:65-82-7 MetaCyc:CPD0-2015 HMDB:HMDB0011745 PMID:16091934 PMID:986424 PMID:21796695 KEGG:C02712 PMID:7354384 PMID:7069504 PMID:448454 PMID:21246718 DrugBank:DB01646" + "An L-methionine derivative that is L-methionine in which one of the amine hydrogens is substituted by an acetyl group." "PMID:24769178 PMID:16129491 PDBeChem:AME PMID:845673 Reaxys:4744969 Reaxys:1725552 CAS:65-82-7 MetaCyc:CPD0-2015 HMDB:HMDB0011745 PMID:16091934 PMID:986424 PMID:21796695 KEGG:C02712 PMID:7354384 PMID:7069504 PMID:448454 PMID:21246718 DrugBank:DB01646" "A dysgerminoma that arises from the ovary and occurs in children." "DOID:7340 UMLS:C1332988 MEDGEN:272465 NCIT:C6550" "Orphanet:96152" "OMIM:218010" "Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting parebral fissures, deep set eyes, low hanging columnessa and long philtrum), congenital heart defects and kidney abnormalities." "UMLS:C1836929 OMIM:609029 MeSH:C535733 MedDRA:10079203 ICD10:Q92.6" "Human lymphoma cell line established from the peripheral blood of a 57-year-old woman with B-cell non-Hodgkin lymphoma (B-NHL, lymphocytic, small cell type progressing to large non-convoluted cell type) in the refractory terminal stage in 1977; assigned to ABC-like lymphoma subtype (activated B-cell); cell line also known as Riva. (DSMZ catalog number ACC 585)" - "An androstanoid having 17beta-hydroxy and 3-oxo groups, together with unsaturation at C-4-C-5.." "LIPID_MAPS_instance:LMST02020002 NCIt:C2299 PMID:18900503 SNOMEDCT:43688007 DrugBank:DB00624 Gmelin:538843 Drug_Central:2607 PMID:11786693 HMDB:HMDB0000234 KEGG:C00535 PDBeChem:TES Wikipedia:Testosterone PMID:24498482 Reaxys:1915399 KEGG:D00075 KNApSAcK:C00003675 MeSH:D013739 Beilstein:3653705 PMID:10438974 Beilstein:1915399 CAS:58-22-0" + "An androstanoid having 17beta-hydroxy and 3-oxo groups, together with unsaturation at C-4-C-5.." "LIPID_MAPS_instance:LMST02020002 NCIt:C2299 PMID:18900503 SNOMEDCT:43688007 DrugBank:DB00624 Gmelin:538843 Drug_Central:2607 PMID:11786693 HMDB:HMDB0000234 KEGG:C00535 PDBeChem:TES Wikipedia:Testosterone PMID:24498482 Reaxys:1915399 KEGG:D00075 KNApSAcK:C00003675 MeSH:D013739 Beilstein:3653705 PMID:10438974 CAS:58-22-0" "The amount of a interleukin-13 when measured in blood serum." "Cardiac manifestation of gastrointestinal CARCINOID TUMOR that metastasizes to the liver. Substances secreted by the tumor cells, including SEROTONIN, promote fibrous plaque formation in ENDOCARDIUM and its underlying layers. These deposits cause distortion of the TRICUSPID VALVE and the PULMONARY VALVE eventually leading to STENOSIS and valve regurgitation." "MeSH:D002275 SNOMEDCT:36222008 MedDRA:10069010" "The determination of the amount of dihomo-gamma-linolenic acid present in a sample." @@ -20393,7 +20258,7 @@ "Quantification of the amount of X-12786 in a sample." "PMID:24816252" "A carcinoma that arises from epithelial cells of the endocervix." "DOID:7519 NCIT:C28327 SCTID:372098004 MEDGEN:226966 UMLS:C1299237" "Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN8A gene." "MEDGEN:934695 UMLS:C4310728 GARD:16506 OMIM:617080 DOID:0081118" - "An indol-3-yl carboxylic acid anion that is the conjugate base of indole-3-acetic acid." "Reaxys:3906817 Beilstein:3906817 Gmelin:329972" + "An indol-3-yl carboxylic acid anion that is the conjugate base of indole-3-acetic acid." "Reaxys:3906817 Gmelin:329972" "Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting." "OMIMPS:188550 Orphanet:319494 UMLS:C3501843 GARD:21421 MEDGEN:502247" "The stage at which the internodes begin to elongate." "A carcinoma that arises from the ovary and is characterized by the presence of large malignant cells exhibiting neuroendocrine differentiation. The prognosis is poor." "MEDGEN:233809 NCIT:C5238 UMLS:C1335174 DOID:4555" @@ -20512,7 +20377,6 @@ - "A type of 3MC syndrome which is that has material basis in homozygous mutation in the COLEC11 gene on chromosome 2p25." "GARD:18428 DOID:0060576 Orphanet:2998 MEDGEN:167115 MONDO:0009927 MESH:C535586 UMLS:C0796279 OMIM:265050" "Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with ARTERIOSCLEROSIS, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to INFARCTION of spinal cord tissue." "MESH:D020760 MedDRA:10054635 DOID:324 MEDGEN:155706 SNOMEDCT:371029002 UMLS:C0752130 MONDO:0020688 MeSH:D020760" @@ -20523,7 +20387,7 @@ "A mucosa that is part of a tongue [Automatically generated definition]." "SCTID:362092002 EFO:0002553 FMA:54807" "Quantification of succinate in a sample." "PMID:33283231" "Quantification of out at first protein homolog in a sample." "PMID:29875488" - "A C4-dicarboxylate that is the E-isomer of but-2-enedioate(2-)" "PDBeChem:FUM DrugBank:DB01677 PMID:17190852 CAS:142-42-7 PMID:22052553 KEGG:C00122 PMID:22405071 Reaxys:1861276 PMID:16857679 PMID:15618158 UM-BBD_compID:c0111 MetaCyc:FUM Beilstein:1861276 Gmelin:325288" + "A C4-dicarboxylate that is the E-isomer of but-2-enedioate(2-)" "PDBeChem:FUM DrugBank:DB01677 PMID:17190852 CAS:142-42-7 PMID:22052553 KEGG:C00122 PMID:22405071 Reaxys:1861276 PMID:16857679 PMID:15618158 UM-BBD_compID:c0111 MetaCyc:FUM Gmelin:325288" "The amount of a palmitoyl-protein thioesterase 1 when measured in blood serum." "A cardioverter defibrillator is an implanted device which regulates abnormal heart rhythms by generating and delivering electrical pulses." "ICD9:V45.02 PMID:25806132 NCIt:C93238 SNOMEDCT:425934009 MeSH:D017147" @@ -20555,7 +20419,7 @@ "A lining of mostly endodermal origin, covered in epithelium, which is involved in absorption and secretion. They line various body cavities that are exposed to the external environment and internal organs. It is at several places continuous with skin: at the nostrils, the lips, the ears, the genital area, and the anus. The sticky, thick fluid secreted by the mucous membranes and gland is termed mucus. The term mucous membrane refers to where they are found in the body and not every mucous membrane secretes mucus[WP]." "galen:Mucosa FMA:85355 NCIT:C13166 EV:0100382 MESH:D009092 GAID:297 AEO:0000199 Wikipedia:Mucous_membrane UMLS:C0026724 BTO:0000886 CALOHA:TS-2031 FMA:85358 EHDAA2_RETIRED:0003234 SCTID:361693009" "The amount of a tudor-interacting repair regulator protein when measured in blood serum." - "A fatty amide derived from oleic acid." "CAS:301-02-0 LIPID_MAPS_instance:LMFA08010004 PMID:23078175 PMID:17445087 HMDB:HMDB0002117 PMID:24253045 Reaxys:1726539 Wikipedia:Oleamide PMID:11681856 Beilstein:1726539" + "A fatty amide derived from oleic acid." "CAS:301-02-0 LIPID_MAPS_instance:LMFA08010004 PMID:23078175 PMID:17445087 HMDB:HMDB0002117 PMID:24253045 Reaxys:1726539 Wikipedia:Oleamide PMID:11681856" "Orphanet:295075 icd11.foundation:1826480139" "Sulcal opening was defined as the average distance between both banks of the pial surface." "An organ system subdivision that is a network of vessels capable of removing accumulating protein and fluid from the interstitial space and returning it to the vascular space. In some species, this network is connected to the immune system via lymph nodes and lymphocyte-producing organs, with the whole being the lymphoid system." "MA:0002961 CALOHA:TS-2024 AAO:0010522 Wikipedia:Lymphatic_system SCTID:362597000 EMAPA:18248 EFO:0000870 FMA:7162 VHOG:0001761 MESH:D008208" @@ -20578,9 +20442,8 @@ "Blanes is an Arabidopsis ecotype." "The amount of a protein PAXX when measured in blood." "PMID:37794183" - "A tropane alkaloid obtained from leaves of the South American shrub Erythroxylon coca." "KNApSAcK:C00002285 PMID:25303034 PMID:11416615 MetaCyc:CPD-9776 Drug_Central:723 MeSH:D003042 DrugBank:DB00907 Reaxys:91034 NCIt:C80153 CAS:50-36-2 Reaxys:5291037 Gmelin:170209 KEGG:C01416 PMID:14962054 PMID:19536276 KEGG:D00110 Beilstein:5291037 Beilstein:3621912 Wikipedia:Cocaine SNOMEDCT:14816004 Beilstein:91034 PMID:21150772 SNOMEDCT:387085005 PMID:11853120 PDBeChem:COC PMID:17551070" + "A tropane alkaloid obtained from leaves of the South American shrub Erythroxylon coca." "KNApSAcK:C00002285 PMID:25303034 PMID:11416615 MetaCyc:CPD-9776 Drug_Central:723 MeSH:D003042 DrugBank:DB00907 Reaxys:91034 NCIt:C80153 CAS:50-36-2 Reaxys:5291037 Gmelin:170209 KEGG:C01416 PMID:14962054 PMID:19536276 KEGG:D00110 Beilstein:3621912 Wikipedia:Cocaine SNOMEDCT:14816004 PMID:21150772 SNOMEDCT:387085005 PMID:11853120 PDBeChem:COC PMID:17551070" "Abnormally increased serum levels of alkaline phosphatase activity." "UMLS:C0750857" - "Passage of blood from one fetus to another via an arteriovenous communication or other shunt, in a monozygotic twin pregnancy. It results in anemia in one twin and polycythemia in the other. (Lee et al., Wintrobe's Clinical Hematology, 9th ed, p737-8)" "MESH:D005330 SCTID:13404009 DOID:13576 Orphanet:95431 UMLS:C2909036 icd11.foundation:850604370 MONDO:0019805 NCIT:C113824 MedDRA:10058328 NORD:2021 MeSH:D005330 GARD:325 MEDGEN:777055" "icd11.foundation:1701238542 Orphanet:295071" "CLO:0002176 BTO:0003204 CLO:0002175 RRID:CVCL_0234 NCIt:C117214" "PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of ''gem-like'' appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and oftalmological abnormalities have also been reported." "Orphanet:313936 UMLS:CN203735" @@ -20657,7 +20520,6 @@ "An endothelial cell found in lung capillaries." "Orphanet:295065" "The amount of a EH domain-binding protein 1 when measured in blood serum." - "A type of anxiety disorder characterized by unexpected panic attacks that last minutes or, rarely, hours. Panic attacks begin with intense apprehension, fear or terror and, often, a feeling of impending doom. Symptoms experienced during a panic attack include dyspnea or sensations of being smothered; dizziness, loss of balance or faintness; choking sensations; palpitations or accelerated heart rate; shakiness; sweating; nausea or other form of abdominal distress; depersonalization or derealization; paresthesias; hot flashes or chills; chest discomfort or pain; fear of dying and fear of not being in control of oneself or going crazy. Agoraphobia may also develop. Similar to other anxiety disorders, it may be inherited as an autosomal dominant trait." "DOID:594 MESH:D016584 ICD9:300.01 SNOMEDCT:371631005 MEDGEN:14588 UMLS:C0030319 icd11.foundation:56162827 NCIt:C34890 MeSH:D016584 MONDO:0005383 Wikipedia:Panic_disorder NCIT:C34890 SCTID:371631005 MedDRA:10033666" "MEDGEN:1651913 UMLS:C4722227" "MEDGEN:1668571 Orphanet:401935 UMLS:C4750911 GARD:21706" "Quantification of the amount of X-24669 in a sample." "PMID:35347128" @@ -20706,7 +20568,6 @@ "infection associated with HTLV-2 virus" "MESH:D015491 SCTID:425740005 UMLS:C0020102 DOID:716 MeSH:D015491 MEDGEN:42515 MONDO:0021183" "GARD:17993 MEDGEN:1674537 UMLS:C5193101 OMIM:618440 Orphanet:557003" - "Benign and malignant neoplasms that arise from one or more of the twelve cranial nerves." "UMLS:C0153644 ICD9:192.0 MEDGEN:57567 SCTID:188307009 MONDO:0002433 DOID:2815 NCIT:C3571 MedDRA:10025873 MedDRA:10061238 MeSH:D003390" "ICD10:Q87.8 OMIM:211770" "Quantification of phosphatidylcholine 33:1 in a sample." "PMID:35668104" @@ -20741,7 +20602,6 @@ "Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." "OMIM:125370 UMLS:C0751781 ICD10:G11" "Human Fanconi anemia cell line" "RRID:CVCL_G057" - "A candidiasis that involves fungal infection of the mucous membrane of the mouth by Candida species, which is characterized by thick white or cream-colored deposits on inflamed mucosal membranes." "DOID:14262 MEDGEN:14300 MONDO:0005886 NCIT:C28137 MESH:D002180 UMLS:C0006849 SCTID:79740000 MedDRA:10030963 ICD9:112.0 MeSH:D002180" "A form of secondary glaucoma which develops as a consequence of another ocular disease and is attributed to the forming of new vessels in the angle of the anterior chamber." "MESH:D015355 MEDGEN:4898 UMLS:C0017609 MedDRA:10062891 MeSH:D015355 SCTID:232086000 MONDO:0019783 SNOMEDCT:232086000 GARD:19245 DOID:1687 Orphanet:94058 icd11.foundation:700864997" "The amount of a methylcytosine dioxygenase TET2 when measured in blood." "PMID:37794183" "UMLS:C1861829 OMIM:604219 OMIM:601547 ICD10:Q13.8 MeSH:C538287 OMIM:116200" @@ -20766,7 +20626,6 @@ "The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately." "UMLS:C4021813 ICD10:Q37 SNOMEDCT_US:66948001 UMLS:C0158646 SNOMEDCT_US:253983005" "UMLS:C4551647 MedDRA:10039211 SCTID:20852007 DOID:0110644 MEDGEN:1641146 OMIM:192500 NCIT:C85049" - "A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses." "MedDRA:10006469 NCIT:C26710 MONDO:0005682 MedDRA:10006471 icd11.foundation:57624587 MESH:D001996 MeSH:D001996 SCTID:396285007 DOID:12375 MEDGEN:2737 ICD9:485 UMLS:C0006285" "Quantification of cystathionine beta-synthase in a sample." "PMID:29875488" "Quantification of phospholipids in IDL." @@ -20841,7 +20700,6 @@ "Any Joubert syndrome in which the cause of the disease is a mutation in the CEP290 gene." "MEDGEN:347545 UMLS:C1857780 OMIM:610188 GARD:15475 DOID:0111000 MESH:C537688" "The amount of a zinc finger SWIM domain-containing protein 7 when measured in blood serum." "icd11.foundation:1429730271 Orphanet:294949" - "A type of 3MC syndrome which is that has material basis in homozygous mutation in the MASP1 gene on chromosome 3q27." "MEDGEN:167100 OMIM:257920 UMLS:C0796059 GARD:4049 DOID:0060575 MONDO:0009770 Orphanet:2506" "Quantification of dietary vitamin D intake." "PMID:29343764" "GARD:19272 MEDGEN:1842784 Orphanet:95488 UMLS:C5681572 ICD10CM:E23.0" "An infectious dermatitis of sheep and goats, affecting primarily the muzzle and lips. It is caused by a poxvirus and may be transmitted to humans." "UMLS:C0013570 MedDRA:10010806 SCTID:74050005 MESH:D004474 MONDO:0005717 ICD9:051.2 MeSH:D004474 MEDGEN:41702 DOID:8771" @@ -20855,7 +20713,7 @@ "Characteristics of an individual that are reported by the individual, usually to medical staff, including via questionnaires, rather than observed or measured directly by medical staff." "Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP)." "MESH:D011547 UMLS:C0033806 NANDO:2200349 MedDRA:10037126 MEDGEN:46178 DOID:4184 NANDO:1200776 ICD10CM:E20.1 icd11.foundation:1225154856 ICD9:275.49 SCTID:58976002 NORD:1627 GARD:10758 NANDO:2100126 Orphanet:97593 NCIT:C99027" - "A tocopherol in which the chroman-6-ol core is substituted by methyl groups at positions 7 and 8. It is found particularly in maize (corn) oil and soya bean (soybean) oils." "PMID:1146729 PMID:31957471 PMID:17823432 PMID:18582912 DrugBank:DB15394 KEGG:C02483 PMID:15932790 PMID:28506847 PMID:8514270 PMID:15753151 PMID:28629117 PMID:6618108 KNApSAcK:C00007365 CAS:54-28-4 PMID:16115338 PMID:15189696 PMID:32197490 AGR:IND607289207 Beilstein:93072 AGR:IND605428769 PMID:32488024 PMID:19838939 PMID:31583056 PMID:14988604 PMID:2388136 PMID:6875389 PMID:16481153 PMID:15493460 PMID:9808643 PMID:23993952 PMID:30361021 Reaxys:93072 PMID:23429409 PMID:10875465 PMID:32065446 PMID:14871472 PMID:33352218 PMID:22888664 PMID:16875031 Wikipedia:Gamma-Tocopherol PMID:6959572 PMID:22513202 PMID:22411374 PMID:16384840 PMID:25916693 NCIt:C68317 MetaCyc:GAMA-TOCOPHEROL MeSH:D024504 PMID:22607470 PMID:28211759 PMID:15213374 Chemspider:83708 PMID:9537614 PMID:25501796 PMID:15256801 PMID:15190048 PMID:16336861 LIPID_MAPS_instance:LMPR02020065 PMID:33549947 PMID:16400056 PMID:31136626 FooDB:FDB002431 HMDB:HMDB0001492 PMID:11811542" + "A tocopherol in which the chroman-6-ol core is substituted by methyl groups at positions 7 and 8. It is found particularly in maize (corn) oil and soya bean (soybean) oils." "PMID:1146729 PMID:31957471 PMID:17823432 PMID:18582912 DrugBank:DB15394 KEGG:C02483 PMID:15932790 PMID:28506847 PMID:8514270 PMID:15753151 PMID:28629117 PMID:6618108 KNApSAcK:C00007365 CAS:54-28-4 PMID:16115338 PMID:15189696 PMID:32197490 AGR:IND607289207 AGR:IND605428769 PMID:32488024 PMID:19838939 PMID:31583056 PMID:14988604 PMID:2388136 PMID:6875389 PMID:16481153 PMID:15493460 PMID:9808643 PMID:23993952 PMID:30361021 Reaxys:93072 PMID:23429409 PMID:10875465 PMID:32065446 PMID:14871472 PMID:33352218 PMID:22888664 PMID:16875031 Wikipedia:Gamma-Tocopherol PMID:6959572 PMID:22513202 PMID:22411374 PMID:16384840 PMID:25916693 NCIt:C68317 MetaCyc:GAMA-TOCOPHEROL MeSH:D024504 PMID:22607470 PMID:28211759 PMID:15213374 Chemspider:83708 PMID:9537614 PMID:25501796 PMID:15256801 PMID:15190048 PMID:16336861 LIPID_MAPS_instance:LMPR02020065 PMID:33549947 PMID:16400056 PMID:31136626 FooDB:FDB002431 HMDB:HMDB0001492 PMID:11811542" "Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure." "UMLS:C0391826 GARD:6901 MEDGEN:140251 NCIT:C8419 ICDO:9493/0 Orphanet:65285" "The amount of a divergent protein kinase domain 1C when measured in blood serum." "A pathologic process characterized by the proliferation of keratinizing squamous epithelium resulting in the accumulation of keratin and cells in the middle ear and/or mastoid. It may be congenital or acquired. If left untreated, it may increase in size and destroy adjacent structures." "DOID:869 MedDRA:10008642 MONDO:0006530 ICD9:385.30 MedDRA:10008648 UMLS:C0008373 MEDGEN:3043 NCIT:C2944 HP:0009797 MESH:D002781 SCTID:363668000" @@ -20948,7 +20806,6 @@ "Phosphoenolpyruvate carboxykinase 1 deficiency(PEPCK1) is a subtype of phosphoenolpyruvate carbokinase defiency (PEPCK; see this term) that results from a defect in the cytosolic form of the rate-limiting enzyme of the gluconeogenic pathway, PEPCK. Hypoglycaemia, hyperalaninaemia and hyperinsulinaemicmay may be observed in PEPCK1 infants. Lactic acidosis is usually not found." "OMIM:261680 ICD10:E74.4" "The amount of a cAMP-regulated phosphoprotein 21 when measured in blood serum." "CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O)." "OMIM:613089 ICD10:Q87.3" - "A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans." "NANDO:2200774 ICD9:086.9 UMLS:C0041227 SCTID:78940002 SNOMEDCT:78940002 ICD10CM:B56 DOID:10113 MONDO:0000940 ICD9:086 MeSH:D014352 MESH:D014352 MEDGEN:52872" "Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI)." "icd11.foundation:829297901 NCIT:C98576 GARD:8696 MESH:C536045 UMLS:C0268363 OMIM:166220 SCTID:205497004 MEDGEN:78665 Orphanet:216820 DOID:0110340" "BRB-seq is a UMI-based 3' assay for low-cost, highly-multiplexed transcriptome profiling of bulk samples." "A(n) primordium that develops into some embryonic labial sensory complex. It develops from some gnathal primordium." "FBbt:00005545" @@ -21027,7 +20884,7 @@ "Congenitally corrected transposition (CCT) of the great vessels is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations." "UMLS:C0344616 NANDO:2200259 NANDO:1200699 NANDO:1200701 NANDO:1200703 Orphanet:216694 icd11.foundation:254915185 GARD:1544 NANDO:2100079 MESH:D000080041 ICD9:745.12 MedDRA:10011120 NCIT:C98902 MEDGEN:87489 SCTID:83799000" "Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra." "SCTID:406476007 GARD:19235 Orphanet:93928 HP:0000039 MESH:D004842 MedDRA:10015088 icd11.foundation:397402420 NCIT:C98923 MEDGEN:41839 ICD9:752.62 UMLS:C0014588" "The determination of the amount of transforming growth factor beta-2 in a sample" "PMID:28240269" - "A racemate composed of (2S,3S)- and (2R,3R)-enantiomers of nemonapride. Highly potent dopamine D2-like receptor antagonist; selective over D1-like receptors (Ki values are 0.1 and 740 nM for D2-like and D1-like receptors respectively). Also potent 5-HT1A receptor agonist (IC50 = 34 nM) and has affinity for sigma receptors." "PMID:16020947 PMID:8328325 PMID:9369342 PMID:10917400 MeSH:C030265 CiteXplore:16020947 CiteXplore:11817505 PMID:9228185 PMID:11929700 PMID:9934942 CiteXplore:9095318 CiteXplore:10435376 PMID:10862524 PMID:10823405 KEGG:D01468 PMID:9095318 NCIt:C73036 KEGG COMPOUND:75272-39-8 PMID:10049714 PMID:10435376 PMID:9031995 CiteXplore:9774248 CiteXplore:9766869 CiteXplore:9369342 CiteXplore:10862524 CiteXplore:10049714 Patent:EP1273301 PMID:10363800 CiteXplore:11929700 KEGG COMPOUND:C12915 PMID:10587100 CiteXplore:10917400 CiteXplore:10898926 ChemIDplus:75272-39-8 PMID:9766869 CiteXplore:9934942 PMID:9310388 PMID:10898926 Wikipedia:Nemonapride CiteXplore:9325557 Patent:US5811547 CiteXplore:10823405 PMID:9016292 Drug_Central:1895 KEGG DRUG:D01468 CiteXplore:9228185 Reaxys:5766104 PMID:11817505 KEGG:C12915 CAS:75272-39-8 CiteXplore:10587100 PMID:9774248 PMID:9325557 CiteXplore:9310388 CiteXplore:10363800" + "A racemate composed of (2S,3S)- and (2R,3R)-enantiomers of nemonapride. Highly potent dopamine D2-like receptor antagonist; selective over D1-like receptors (Ki values are 0.1 and 740 nM for D2-like and D1-like receptors respectively). Also potent 5-HT1A receptor agonist (IC50 = 34 nM) and has affinity for sigma receptors." "PMID:16020947 PMID:8328325 PMID:9369342 PMID:10917400 MeSH:C030265 CiteXplore:16020947 CiteXplore:11817505 PMID:9228185 PMID:11929700 PMID:9934942 CiteXplore:9095318 CiteXplore:10435376 PMID:10862524 PMID:10823405 KEGG:D01468 PMID:9095318 NCIt:C73036 KEGG COMPOUND:75272-39-8 PMID:10049714 PMID:10435376 PMID:9031995 CiteXplore:9774248 CiteXplore:9766869 CiteXplore:9369342 CiteXplore:10862524 CiteXplore:10049714 Patent:EP1273301 PMID:10363800 CiteXplore:11929700 KEGG COMPOUND:C12915 PMID:10587100 CiteXplore:10917400 CiteXplore:10898926 ChemIDplus:75272-39-8 CiteXplore:9934942 PMID:9766869 PMID:9310388 PMID:10898926 Wikipedia:Nemonapride CiteXplore:9325557 Patent:US5811547 CiteXplore:10823405 PMID:9016292 Drug_Central:1895 KEGG DRUG:D01468 CiteXplore:9228185 Reaxys:5766104 PMID:11817505 KEGG:C12915 CAS:75272-39-8 CiteXplore:10587100 PMID:9774248 PMID:9325557 CiteXplore:9310388 CiteXplore:10363800" "Quantification of t-cell surface antigen CD2 in a sample." "PMID:29875488" "Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is a form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases." "DOID:0110285 Orphanet:254361 MEDGEN:462339 GARD:12542 UMLS:C3150989 OMIM:613723" "Diffuse large B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma (NHL) in adults characterized by a median age of presentation in the sixth decade of life (but also rarely occurring in adolescents and children) with the initial presentation being single or multiple rapidly growing masses (that may or may not be painful) in nodal or extranodal sites (such as thyroid, skin, breast, gastrointestinal tract, testes, bone, or brain) and that can be accompanied by symptoms of fever, night sweats and weight loss. DLBCL has an aggressive disease course, with the elderly having a poorer prognosis than younger patients, and with relapses being common." "MONDO:0018905 ICD10:C83.3 NCIT:C8851 Orphanet:544 DOID:0050745 ICD9:200.7 UMLS:C0079744 MedDRA:10012818 ICDO:9680/3 EFO:0000403 icd11.foundation:1946973604 GARD:0003178 GARD:3178 MEDGEN:86954 MESH:D016403" @@ -21060,7 +20917,6 @@ "Disorders related to or resulting from abuse or mis-use of alcohol." "SCTID:29212009 MEDGEN:68632 UMLS:C0236664 MESH:D019973" "A squamous cell carcinoma that arises from the pharynx." "NCIT:C102872 SCTID:408649007 UMLS:C1319317 EFO:1001965 MEDGEN:728086 MONDO:0000536 DOID:0050921" - "A syndrome associated with injury to the lateral half of the spinal cord. The condition is characterized by the following clinical features (which are found below the level of the lesion): contralateral hemisensory anesthesia to pain and temperature, ipsilateral loss of propioception, and ipsilateral motor paralysis. Tactile sensation is generally spared. (From Adams et al., Principles of Neurology, 6th ed, p162)." "MeSH:D018437 DOID:606 MESH:D018437 MONDO:0003754 NCIt:C84601 NCIT:C84601 SCTID:27982003 UMLS:C0242644 ICD10CM:G83.81 MedDRA:10006491 MEDGEN:69225" "The amount of a melanoma-associated antigen B10 when measured in blood serum." "The amount of a phosphoinositide-3-kinase-interacting protein 1 when measured in blood serum." "Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." "OMIM:617757 OMIM:617622 OMIM:610688 MedDRA:10078574 OMIM:616784 OMIM:614173 OMIM:617120 OMIM:612291 OMIM:617767 OMIM:614464 OMIM:614970 OMIM:614175 ICD10:Q04.3 OMIM:616781 OMIM:616490 OMIM:617761 OMIM:615636 OMIM:213300 OMIM:616654 OMIM:614424 OMIM:618161 OMIM:614615" @@ -21120,7 +20976,7 @@ "The walking appendages of each segment of the ventral adult external thorax." "MAT:0000095 FBbt:00004640 NCIt:C32974 TGMA:0000164 TADS:0000002 MeSH:D007866" "Chromatin affinity purification from specific cell types by chromatin immunoprecipitation (CAST-ChIP)" "PMID:24095734" - "A diffuse or multifocal peripheral neuropathy related to the remote effects of a neoplasm, most often carcinoma or lymphoma. Pathologically, there are inflammatory changes in peripheral nerves. The most common clinical presentation is a symmetric distal mixed sensorimotor polyneuropathy. (Adams et al., Principles of Neurology, 6th ed, p1334)" "NCIt:C3981 MESH:D020364 DOID:8681 MEDGEN:124380 MedDRA:10062289 MeSH:D020364 UMLS:C0270932 NCIT:C3981 SCTID:77659000 MONDO:0006888 ICD9:357.3" + "A diffuse or multifocal peripheral neuropathy related to the remote effects of a neoplasm, most often carcinoma or lymphoma. Pathologically, there are inflammatory changes in peripheral nerves. The most common clinical presentation is a symmetric distal mixed sensorimotor polyneuropathy. (Adams et al., Principles of Neurology, 6th ed, p1334)" "ICD9:357.3 NCIt:C3981 MESH:D020364 DOID:8681 MEDGEN:124380 MedDRA:10062289 MeSH:D020364 UMLS:C0270932 NCIT:C3981 SCTID:77659000 MONDO:0006888" "A disorder characterized by a marked pattern of inattention and/or hyperactivity-impulsivity that is inconsistent with developmental level and clearly interferes with functioning in at least two settings (e.g. at home and at school). When present, the symptoms of hyperactivity are most often present before the age of 7 years. There are three recognized presentations or subtypes from most to least common: combined type, inattentive/distractible type, hyperactive/impulsive type." "MeSH:D001289 MedDRA:10003736 MedDRA:10083622 NCIT:C97160 OMIM:613003 OMIM:143465 MONDO:0007743 SNOMEDCT:406506008 NCIt:C97160 UMLS:C1263846 MedDRA:10003735 ICD9:314.01 MEDGEN:220387 DOID:1094" @@ -21128,7 +20984,7 @@ "Quantification of thrombospondin type-1 domain-containing protein 1 in a sample." "PMID:29875488" "quantification of the amount of spondin-1 in a sample" - "An alpha,omega-dicarboxylic acid that is the 1,4-dicarboxy derivative of butane." "Beilstein:1209788 KEGG:D08839 FAO/WHO_standards:174 PMID:24491734 Reaxys:1209788 PMID:24895214 Wikipedia:Adipic_acid KEGG:C06104 LIPID_MAPS_instance:LMFA01170048 MetaCyc:ADIPATE Gmelin:3166 CAS:124-04-9 KNApSAcK:C00001178 Drug_Central:3474 PDBeChem:0L1 HMDB:HMDB0000448 PMID:22770225" + "An alpha,omega-dicarboxylic acid that is the 1,4-dicarboxy derivative of butane." "KEGG:D08839 FAO/WHO_standards:174 PMID:24491734 Reaxys:1209788 PMID:24895214 Wikipedia:Adipic_acid KEGG:C06104 LIPID_MAPS_instance:LMFA01170048 MetaCyc:ADIPATE Gmelin:3166 CAS:124-04-9 KNApSAcK:C00001178 Drug_Central:3474 PDBeChem:0L1 HMDB:HMDB0000448 PMID:22770225" "Quantification of the amount of galectin-3-binding protein in a sample." "PMID:23696881" "Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterized by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA." "UMLS:C2749864 OMIM:612073 Orphanet:1933 GARD:3681 DOID:0080124 MESH:C567624 MEDGEN:413170" "Any 3MC syndrome in which the cause of the disease is a mutation in the MASP1 gene." "MEDGEN:167100 OMIM:257920 UMLS:C0796059 GARD:4049 DOID:0060575 MONDO:0009770 Orphanet:2506" @@ -21190,7 +21046,7 @@ "An ependymoma that arises from the spinal cord." "MEDGEN:65968 NCIT:C3875 SCTID:254949006 DOID:5503 UMLS:C0238432" - "An omega-hydroxy-long-chain fatty acid anion that is the conjugate base of 16-hydroxyhexadecanoic acid (also known as 16-hydroxypalmitic acid or juniperic acid)." "Reaxys:7346679 Beilstein:7346679" + "An omega-hydroxy-long-chain fatty acid anion that is the conjugate base of 16-hydroxyhexadecanoic acid (also known as 16-hydroxypalmitic acid or juniperic acid)." "Reaxys:7346679" "Quantification of demethylphosphinothricin in blood plasma." "KEGG COMPOUND:C17962" @@ -21244,7 +21100,7 @@ "An decrease in the probability of an event occurring, as compared to a background risk such as the normal risk in a given population. For instance, limiting alcohol consumption can decrease risk of ovarian cancer." "A respiratory tract infection caused by a virus. Viruses represent the most common causes of upper and lower respiratory tract infections and include rhinoviruses, influenza viruses, parainfluenza viruses, and respiratory syncytial virus." "UMLS:C0877203 MEDGEN:163755 SCTID:312133006 NCIT:C27219 ICD9:519.8" "GARD:10621 SCTID:389264005 OMIM:137360 icd11.foundation:1222756922 UMLS:C1300229 MESH:C563215 MEDGEN:224887" - "A bisbiguanide compound with a structure consisting of two (p-chlorophenyl)guanide units linked by a hexamethylene bridge." "PMID:33805369 CAS:55-56-1 DrugBank:DB00878 PMID:17602516 PMID:16238008 Reaxys:2826432 PMID:10848923 Wikipedia:Chlorhexidine MeSH:D002710 PMID:33786648 PMID:33850179 Beilstein:2826432 LINCS:LSM-5633 Drug_Central:597 PMID:11564456 PMID:33863402 KEGG:D07668 SNOMEDCT:373568007 SNOMEDCT:96316004 KEGG:C06902 PMID:24384684 NCIt:C364 VSDB:1779" + "A bisbiguanide compound with a structure consisting of two (p-chlorophenyl)guanide units linked by a hexamethylene bridge." "PMID:33805369 CAS:55-56-1 DrugBank:DB00878 PMID:17602516 PMID:16238008 Reaxys:2826432 PMID:10848923 Wikipedia:Chlorhexidine MeSH:D002710 PMID:33786648 PMID:33850179 LINCS:LSM-5633 Drug_Central:597 PMID:11564456 PMID:33863402 KEGG:D07668 SNOMEDCT:373568007 SNOMEDCT:96316004 KEGG:C06902 PMID:24384684 NCIt:C364 VSDB:1779" "Any measurable or observable characteristic related to the shape, structure, color, or pattern of the fine, keratinized filamentous growths arising from the epidermis of mammals." "Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor." "GARD:2238 MEDGEN:473015 OMIM:227500 Orphanet:327 NCIT:C131631 MedDRA:10016079 UMLS:C0272320 DOID:2215" "icd11.foundation:689620137 Orphanet:93441" @@ -21417,7 +21273,6 @@ "Quantification of leucine-rich repeat LGI family member 3 in a sample." "PMID:29875488" "A peripheral nerve lesion that involves the radial nerve." "UMLS:C0154744 DOID:12170 SCTID:193137006 ICD10:G56.3 MedDRA:10061477 MeSH:D020425 MEDGEN:102317 SNOMEDCT:193137006 MONDO:0006940 ICD9:354.3" - "A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted_by body lice (Pediculus humanus corporis). The infection has_symptom relapsing fever, has_symptom headache, has_symptom shin pain, and has_symptom soreness of the muscles of the legs and back." "icd11.foundation:1587737629 MESH:D014205 ICD9:083.1 ICD10CM:A79.0 MEDGEN:21637 Orphanet:64694 SCTID:82214002 UMLS:C0040830 MONDO:0005991 GARD:18862 MedDRA:10044582 DOID:11101 MeSH:D014205" "A hydroxy fatty acid anion which is obtained by deprotonation of the carboxy group of 2-hydroxyhexanoic acid." "The amount of a regulator of G-protein signaling 10 when measured in blood serum." @@ -21469,7 +21324,7 @@ "GARD:18402 OMIM:617576 MEDGEN:1617309 DOID:0070165 UMLS:C4539783" "Inflammation in which both the anterior and posterior segments of the uvea are involved and a specific focus is not apparent. It is often severe and extensive and a serious threat to vision. Causes include systemic diseases such as tuberculosis, sarcoidosis, and syphilis, as well as malignancies. The intermediate segment of the eye is not involved." "MESH:D015864 SNOMEDCT:75614007 Orphanet:280898 MeSH:D015864 MONDO:0017255 ICD9:360.12 HP:0012121 NCIt:C84989 DOID:12030 icd11.foundation:1125547814 MedDRA:10033687 MEDGEN:45303 SCTID:75614007 GARD:8577 NCIT:C84989 UMLS:C0030343" "A disorder characterized by a retrospective gap in memory of important personal information, usually of a traumatic or stressful nature; the memory loss far exceeds ordinary forgetfulness and is not the result of substance use or the consequence of a medical condition." "SCTID:84209002 ICD10CM:F44.0 UMLS:C0236795 MEDGEN:66743 ICD9:300.12 DOID:11037 NCIT:C94328 icd11.foundation:626975732" - "A monocarboxylic acid amide consisting of L-valine in which the amino hydrogens have been replaced by a pentanoyl and a [2'-(1H-tetrazol-5-yl)biphenyl]-4-yl]methyl group. It exhibits antihypertensive activity." "DrugBank:DB00177 KEGG:D00400 CAS:137862-53-4 Wikipedia:Valsartan Patent:US5399578 LINCS:LSM-2993 Drug_Central:2806 Beilstein:7754038 HMDB:HMDB0014323 Reaxys:7754038 Patent:EP443983" + "A monocarboxylic acid amide consisting of L-valine in which the amino hydrogens have been replaced by a pentanoyl and a [2'-(1H-tetrazol-5-yl)biphenyl]-4-yl]methyl group. It exhibits antihypertensive activity." "DrugBank:DB00177 KEGG:D00400 CAS:137862-53-4 Wikipedia:Valsartan Patent:US5399578 LINCS:LSM-2993 Drug_Central:2806 HMDB:HMDB0014323 Reaxys:7754038 Patent:EP443983" "The outer layer of the epidermis, consisting of several layers of flat keratinized non-nucleated cells." "Wikipedia:Stratum_corneum NCIT:C33625 UMLS:C0221921 MA:0000804 FMA:67545 CALOHA:TS-0981 EMAPA:32787 SCTID:361695002 BTO:0000344 AAO:0010597" "quantification of the amount of granulins in a sample" "The determination of the amount of CD70 antigen in a sample" "PMID:28240269" @@ -21529,7 +21384,7 @@ "The presence of multiple creases on the palm of the hand (more than the normal three major creases (distal transverse crease, proximal transverse crease, and thenar crease)." "UMLS:C1861872" "Immature CD8_alpha-negative CD11b-positive dendritic cell is a CD8_alpha-negative CD11b-positive dendritic cell that is CD80-low, CD86-low, and MHCII-low." "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with dabigatran etexilate, an anticoagulant from the class of direct thrombin inhibitors. Dabigatran is used to prevent strokes in patients with atrial fibrillations due to causes other than heart valve disease, and at least one additional risk factor for stroke,and to prevent the formation of blood clots in the veins in adults who have had an operation to replace a hip or knee." - "An adenocarcinoma that arises from the fallopian tube and resembles the endometrioid adenocarcinoma of the uterus. It usually has a favorable prognosis." "NCIT:C6279 NCIT:C40111 MEDGEN:232185 UMLS:C1333592 DOID:5831" + "An adenocarcinoma that arises from the fallopian tube and resembles the endometrioid adenocarcinoma of the uterus. It usually has a favorable prognosis." "NCIT:C40111 NCIT:C6279 MEDGEN:232185 UMLS:C1333592 DOID:5831" "6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations." "Orphanet:75857 UMLS:C4304514 SCTID:719666002 MEDGEN:930183 GARD:18931" "A motility assay is an assay which measures the controlled movement of a population of cells." @@ -21731,12 +21586,11 @@ "Autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) is a subtype of autosonal dominant Charcot-Marie-Tooth disease type 2 characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated." "OMIM:616280 SCTID:765046002 UMLS:C4084821 DOID:0110173 Orphanet:397735 GARD:17638 MEDGEN:906504" "A disease involving the musculoskeletal system. [database_cross_reference: MONDO:DesignPattern]" "MESH:D009140 ICD10:M53 ICD9:729.99 DOID:17 ICD10:M95 UMLS:C0026857 SCTID:928000 NCIT:C107377 ICD10:M96 MEDGEN:6471 MONDO:0002081" "The amount of a metastasis-suppressor KiSS-1 when measured in blood serum." - "drastic decline in blood pressure which happens after eating a meal and most likely due to insufficient compensation in cardiac output by the autonomic nervous sytem for the diversion of blood to the intestines " "MONDO:0005470" "Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit." "UMLS:C2112129 UMLS:C4020865" "Polyneuropathy that is characterized by demyelination of axons." "SCTID:23414001 MEDGEN:82859 NCIT:C27062 ICD9:356.9 UMLS:C0270922 DOID:5214" "quantification of the amount of interleukin 23 receptor in a sample" "Any of the immature forms of a basophil, in which basophilic specific granules are present but other phenotypic features of the mature form may be lacking." - "A specimen primarily composed of a cell or cells collected from a multicellular organism or a cell culture." "MO:612" + "A specimen primarily composed of a cell or cells collected from a multicellular organism or a cell culture."@en "MO:612" "Bothriocephalosis is a mammalian cosmopolitan intestinal parasitosis. In addition to non-specific digestive problems (nausea, abdominal pain, lack of appetite), bothriocephalosis provokes an anemia caused by vitamin B12 deficiency that resembles Biermer anemia (anemia characterized by abnormally large red blood cells)." "MedDRA:10013030 GARD:942 MONDO:0015260 SCTID:187151009 ICD10CM:B70.0 DOID:10075 UMLS:C0012561 NCIT:C128391 icd11.foundation:1679215344 Orphanet:128 MESH:D004169 MEDGEN:3858 ICD9:123.4 MedDRA:10013029 MeSH:D004169" "Quantification of serpin A12 in a sample." "PMID:29875488" @@ -21799,12 +21653,10 @@ "Method for directly enriching for the 5' end of primary transcripts and enabling determination of transcription start sites at single base resolution. This is achieved by enzymatically modifying the 5' triphosphorylated end of RNA with a selectable tag." "PMID:26951544" "The amount of a CD9 molecule when measured in blood serum." - "Autoimmune pancreatitis (AIP) is a unique form of chronic pancreatitis characterized by high serum IgG4 concentration and a variety of complicating extra-pancreatic lesions. In particular, lachrymal/salivary gland lesions tend to manifest in a highly active AIP disease state." "SCTID:722872000 MONDO:0017227 Orphanet:280302 GARD:21076 UMLS:C4302243 MEDGEN:927912 PMID:25985088" "Any deviation from the normal concentration of a aromatic amino acid in the blood circulation." "UMLS:C4025352" "A disease involving the common bile duct." "MEDGEN:3545 MESH:D003137 UMLS:C0009440 DOID:4137" "The amount of a antiviral innate immune response receptor RIG-I when measured in blood serum." "CLIFAHDD is a congenital disorder characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay. All reported cases have occurred de novo (summary by Chong et al., 2015). " "GARD:16075 Orphanet:562528 DOID:0081048 OMIM:616266 UMLS:C4225398 MONDO:0014556 MEDGEN:907234" - "Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary." "SCTID:66999008 NANDO:2100123 MONDO:0001741 UMLS:C0020502 NANDO:2200343 MedDRA:10020705 DOID:13543 icd11.foundation:9633776 SNOMEDCT:66999008 ICD10:E21.3 MeSH:D006961 ICD9:252.0 MESH:D006961 ORDO:99879 NCIT:C48259 NCIt:C48259 ICD10:E21 MEDGEN:6967 ICD9:252.00" "An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart." "SNOMEDCT_US:421493004 SNOMEDCT_US:88610006 UMLS:C0018808 SNOMEDCT_US:414786004" "The determination of the amount of inhibin beta A chain in a sample" "PMID:28240269" @@ -21908,7 +21760,6 @@ "MEDGEN:1824002 DOID:0081324 OMIM:620071 UMLS:C5774229" "Nucleo-Seq, to determine nucleosome organization across the genome" "PMID:21602827" - "A commensal bacterial infectious disease that results_in infection, located_in muscle tissue, has_material_basis_in Clostridium perfringens, which produce gas that becomes trapped in the infected tissue. Gas gangrene usually develops after injuries or surgery. The infection has_symptom large blisters, has_symptom pain in the infected area, has_symptom myonecrosis, has_symptom gas production, and has_symptom sepsis." "UMLS:C0017105 MeSH:D005738 DOID:9159 ICD10CM:A48.0 MESH:D005738 MONDO:0005767 icd11.foundation:1920227791 ICD9:040.0 MEDGEN:8959 SCTID:80466000 MedDRA:10017737" "A serotonin transported measurement is the quantification of serotonin transporter. Serotonin transporter regulates the levels of extracellular serotonin. The 5-HTT levels in brain can be measured using PET." "A syndrome of persistent PULMONARY HYPERTENSION in the newborn infant (INFANT, NEWBORN) without demonstrable HEART DISEASES. This neonatal condition can be caused by severe pulmonary vasoconstriction (reactive type), hypertrophy of pulmonary arterial muscle (hypertrophic type), or abnormally developed pulmonary arterioles (hypoplastic type). The newborn patient exhibits CYANOSIS and ACIDOSIS due to the persistence of fetal circulatory pattern of right-to-left shunting of blood through a patent ductus arteriosus (DUCTUS ARTERIOSUS, PATENT) and at times a patent foramen ovale (FORAMEN OVALE, PATENT)." "MEDGEN:45824 SCTID:35604006 UMLS:C0031190 MedDRA:10054726 NCIt:C85006 OMIM:617035 NCIT:C85006 OMIM:617039 DOID:13042 MeSH:D010547 SNOMEDCT:35604006 MESH:D010547 MONDO:0022430 SCTID:233815004 SCTID:206597007 ICD10:P29.3" @@ -21919,7 +21770,7 @@ "SNOMEDCT:243430004" "The amount of a ubiquilin-3 when measured in blood serum." "Toxicity that impairs the vascular system or damages its function. This can include hypertension, hypotension. " - "An oxopurine that is xanthine in which the hydrogen attached to the nitrogen at position 7 is replaced by a methyl group. It is an intermediate metabolite in the synthesis of caffeine." "KNApSAcK:C00007326 Beilstein:171027 Reaxys:171027 PMID:11712316 HMDB:HMDB0001991 PMID:4196487 MetaCyc:7-METHYLXANTHINE KEGG:C16353 PMID:18068204 CAS:552-62-5" + "An oxopurine that is xanthine in which the hydrogen attached to the nitrogen at position 7 is replaced by a methyl group. It is an intermediate metabolite in the synthesis of caffeine." "KNApSAcK:C00007326 Reaxys:171027 PMID:11712316 HMDB:HMDB0001991 PMID:4196487 MetaCyc:7-METHYLXANTHINE KEGG:C16353 PMID:18068204 CAS:552-62-5" "MESH:C535492 UMLS:C1856969 OMIM:226440 MEDGEN:341663 Orphanet:231556 GARD:299" "OMIM:620070 DOID:0070479 MEDGEN:1824001 UMLS:C5774228" "Quantification of the ratio of L-Asparagine Anhydrous to 3-Indolepropionic acid ratio in a sample." "PMID:33634981" @@ -21958,7 +21809,6 @@ "A dipeptide consisting of glycine having an L-prolyl group attached to its alpha-amino nitrogen." "HMDB:HMDB0011178 PMID:10219662 CAS:2578-57-6 PMID:27017332 PMID:3782411 Beilstein:83366 MetaCyc:CPD0-2182" - "Disease of the glandular, anterior portion of the pituitary (PITUITARY GLAND, ANTERIOR) resulting in hypersecretion of ADENOHYPOPHYSEAL HORMONES such as GROWTH HORMONE; PROLACTIN; THYROTROPIN; LUTEINIZING HORMONE; FOLLICLE STIMULATING HORMONE ; and ADRENOCORTICOTROPIC HORMONE. Hyperpituitarism usually is caused by a functional ADENOMA." "MedDRA:10020716 MESH:D006964 MEDGEN:43783 ICD9:253.1 UMLS:C0020506 MeSH:D006964 SNOMEDCT:10649000 SCTID:10649000 DOID:2444 MONDO:0006793 ICD10:E22" "The surface layer of gray matter of the cerebrum that functions chiefly in coordination of sensory and motor information." "BTO:0000233 NIFSTD:birnlex_1494 NCIt:C12443" "The amount of a growth/differentiation factor 7 when measured in blood serum." @@ -22058,7 +21908,6 @@ "An inherited metabolic disease that is has its basis in the disruption of L-serine biosynthetic process." "DOID:0050721" "The amount of a protein NDRG2 when measured in blood serum." "The amount of a apoptotic protease-activating factor 1 when measured in blood serum." - "a rare condition characterized by an almost total lack of fatty (adipose) tissue in the body and a very muscular appearance. Adipose tissue is found in many parts of the body, including beneath the skin and surrounding the internal organs. It stores fat for energy and also provides cushioning. Congenital generalized lipodystrophy is part of a group of related disorders known as lipodystrophies, which are all characterized by a loss of adipose tissue. A shortage of adipose tissue leads to the storage of fat elsewhere in the body, such as in the liver and muscles, which causes serious health problems." "MEDGEN:67438 DOID:0050585 HP:0009059 OMIMPS:608594 SCTID:284449005 UMLS:C0221032 NANDO:1200859 MONDO:0006536 MedDRA:10053432 NORD:998" "A disease of infectious agent resulting from the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions. These pathogens are able to cause disease in animals and/or plants. Infectious pathologies are usually qualified as contagious disease (also called communicable disease) due to their potentiality of transmission from one person or species to another." "ICD9:995.91 SNOMEDCT:91302008 NCIt:C3364 NCIt:C111915 MeSH:D018805" "The amount of a transcription factor 24 when measured in blood serum." @@ -22135,7 +21984,6 @@ "Any geleophysic dysplasia in which the cause of the disease is a mutation in the FBN1 gene." "UMLS:C3280054 GARD:15768 OMIM:614185 MEDGEN:481684 DOID:0111726" "MEDGEN:1811493 OMIM:619742 UMLS:C5676914" - "MYOCARDIAL INFARCTION in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery." "UMLS:C0340305 MESH:D056989 MeSH:D056989 MEDGEN:83305 DOID:5850 MedDRA:10057546 MONDO:0006803" "SCTID:205130008 MEDGEN:609220 GARD:21200 icd11.foundation:243366415 Orphanet:295004 UMLS:C0431903" @@ -22186,12 +22034,11 @@ "A biochemical role played by any micronutrient that is an organic compound. Vitamins are present in foods in small amounts and are essential to normal metabolism and biochemical functions, usually as coenzymes. The term \"vitamines\" (from vita + amines) was coined in 1912 by Casimir Funk, who believed that these compounds were amines." "NCIt:C944 SNOMEDCT:87708000 Wikipedia:Vitamin" "Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone." "UMLS:C2936423" "A benign, circumscribed fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It is characterized by the presence of epithelial structures which are arranged in clefts and by a hypercellular mesenchymal stroma which is organized in leaf-like structures. There is no evidence of cellular atypia or sarcomatous features." "UMLS:C0334501 NCIT:C4274 MEDGEN:87254 ICDO:9020/0" - "Benign urothelial polyp with both epithelial and stromal components. Usually a solitary lesion in bladder and urethra in adults, upper tract in children. Generally scant inflammation and no associated cystitis. Cystoscopic appearance is suggestive of papillary neoplasm rather than cystitis" "DOID:8108 NCIT:C6170 MEDGEN:234460 MONDO:0006550 UMLS:C1336884" "An autosomal recessive immunologic disorder with variable manifestations. One patient with infantile-onset of chronic cytomegalovirus (CMV) infection associated with severely decreased NK cells has been reported. Another family with 3 affected fetuses showing restrictive cardiomyopathy and hypoplasia of the spleen and thymus has also been reported." "MEDGEN:1786417 UMLS:C5543344 OMIM:619313" "The amount of a adhesion G-protein coupled receptor D1 when measured in blood." "PMID:37794183" "quantification of the volume of grey matter in the superior frontal gyrus, usuallly through an MRI scan" "Quantification of the amount of X-24020 in a sample." "PMID:35050183" - "A member of the class of piperazines that is piperazine substituted by a furan-2-ylcarbonyl group and a 4-amino-6,7-dimethoxyquinazolin-2-yl group at positions 1 and 4 respectively." "Beilstein:768345 CAS:19216-56-9 Reaxys:768345 Drug_Central:4209 PMID:20825390 Patent:US3511836 DrugBank:DB00457 LINCS:LSM-3079 HMDB:HMDB0014600 Patent:NL7206067 KEGG:C07368 Patent:GB1156973 KEGG:D08411 Wikipedia:Prazosin" + "A member of the class of piperazines that is piperazine substituted by a furan-2-ylcarbonyl group and a 4-amino-6,7-dimethoxyquinazolin-2-yl group at positions 1 and 4 respectively." "CAS:19216-56-9 Reaxys:768345 Drug_Central:4209 PMID:20825390 Patent:US3511836 DrugBank:DB00457 LINCS:LSM-3079 HMDB:HMDB0014600 Patent:NL7206067 KEGG:C07368 Patent:GB1156973 KEGG:D08411 Wikipedia:Prazosin" "Drying and inflammation of the conjunctiva as a result of insufficient lacrimal secretion. When found in association with XEROSTOMIA and polyarthritis, it is called SJOGREN'S SYNDROME." "MedDRA:100233350 MESH:D007638 SCTID:46152009 DOID:12895 MESH:D015352 HP:0001097 DOID:10140 MeSH:D007638 NCIT:C34553 ICD9:375.15 MeSH:D015352 MEDGEN:4411 MONDO:0006733 SNOMEDCT:302896008 SCTID:302896008 MedDRA:10013777 UMLS:C0013238" "Immature dermal dendritic cell is a dermal dendritic cell that is CD80-low, CD86-low, and MHCII-low." @@ -22213,9 +22060,8 @@ "The amount of a 5,6-dihydroxyindole-2-carboxylic acid oxidase when measured in blood." "PMID:37794183" "The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin." "UMLS:C0265319 UMLS:C1368816 SNOMEDCT_US:36025004 SNOMEDCT_US:78424008" - "A heterodetic cyclic peptide consisting of eight amino acid residues and containing a thioether bridge between a cysteine and a tryptophan residue. It is found in a number of poisonous mushrooms, including Amanita phalloides (the death cap), Galerina marginata, and and Conocybe filaris." "PMID:9093889 PMID:6208374 CAS:23109-05-9 PMID:23763309 Wikipedia:Alpha-amanitin KNApSAcK:C00001516 PMID:19556115 Beilstein:1071138 Reaxys:1071138 KEGG:C08438 MeSH:D053959 PMID:6630208 PMID:17525082 PMID:20529816 PMID:109306" + "A heterodetic cyclic peptide consisting of eight amino acid residues and containing a thioether bridge between a cysteine and a tryptophan residue. It is found in a number of poisonous mushrooms, including Amanita phalloides (the death cap), Galerina marginata, and and Conocybe filaris." "PMID:9093889 PMID:6208374 CAS:23109-05-9 PMID:23763309 Wikipedia:Alpha-amanitin KNApSAcK:C00001516 PMID:19556115 Reaxys:1071138 KEGG:C08438 MeSH:D053959 PMID:6630208 PMID:17525082 PMID:20529816 PMID:109306" "Any Ullrich congenital muscular dystrophy in which the cause of the disease is a mutation in the COL12A1 gene." "GARD:16120 DOID:0060948 OMIM:616470 MEDGEN:899150 UMLS:C4225314" - "A viral infectious disease that results_in inflammation located_in spinal cord, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, and transmitted_by breast feeding. The infection has_symptom spastic weakness of both legs, has_symptom muscle stiffness, has_symptom sensory disturbance, and has_symptom spasms." "UMLS:C0030481 MEDGEN:18298 MeSH:D015493 OMIM:159580 MESH:D015493 Orphanet:289326 DOID:321 ICD9:323.01 MedDRA:10067606 SCTID:714279000 GARD:8208 MedDRA:10044696 NANDO:1200206 icd11.foundation:1043229589 MONDO:0008039" "The amount of a Mth938 domain-containing protein when measured in blood serum." "Quantification of the amount of C20:1 lysophosphatidylethanolamine in a sample." "PMID:35995766" @@ -22256,7 +22102,7 @@ "A cholesterol embolism that involves the kidney." "DOID:1460 MEDGEN:541484 ICD10CM:I75.81 UMLS:C0268792" "A chronic, pathological complication associated with diabetes mellitus, where retinal damages are incurred due to microaneurysms in the vasculature of the retina, progressively leading to abnormal blood vessel growth, and swelling and leaking of fluid from blood vessels, resulting in vision loss or blindness." "DOID:8947 MedDRA:10012689 MESH:D003930 NCIT:C34538 OMIM:612635 icd11.foundation:1006882070 SNOMEDCT:4855003 ICD9:362.0 NCIt:C34538 SCTID:4855003 OMIM:603933 UMLS:C0011884 OMIM:612633 OMIM:612623 MeSH:D003930 MEDGEN:3786 MONDO:0005266" "Quantification of zinc finger protein 774 in a sample." "PMID:29875488" - "The naturally occurring (1'S)-(+) enantiomer of abscisic acid. It is an important sesquiterpenoid plant hormone which acts as a regulator of plant responses to environmental stresses such as drought and cold." "PMID:12114582 PMID:10915053 Beilstein:4190247 PMID:16169217 Beilstein:2130328 KNApSAcK:C00000134 HMDB:HMDB0035140 CAS:21293-29-8 Wikipedia:Abscisic_acid LIPID_MAPS_instance:LMPR0103050001 PMID:19898420 PMID:17741533 Reaxys:2130328 KEGG:C06082 PMID:17582774 PMID:19956245 BPDB:2486" + "The naturally occurring (1'S)-(+) enantiomer of abscisic acid. It is an important sesquiterpenoid plant hormone which acts as a regulator of plant responses to environmental stresses such as drought and cold." "PMID:12114582 PMID:10915053 Beilstein:4190247 PMID:16169217 KNApSAcK:C00000134 HMDB:HMDB0035140 CAS:21293-29-8 Wikipedia:Abscisic_acid LIPID_MAPS_instance:LMPR0103050001 PMID:19898420 PMID:17741533 Reaxys:2130328 KEGG:C06082 PMID:17582774 PMID:19956245 BPDB:2486" "A hormone producing endocrine neoplasm, associated with a hormonal syndrome." "UMLS:C2986655 ICDO:8158/1 MEDGEN:458881 NCIT:C94759" "A triglyceride in which the three acyl groups contain a total of 56 carbons and 6 double bonds." @@ -22317,7 +22163,6 @@ "An autosomal dominant bone disorder characterized by endosteal hyperostosis and osteosclerosis of the calvaria and the skull base. The progressive bone overgrowth causes entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII, its first symptoms often presenting during the second decade of life." "OMIM:144755" "Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance." "UMLS:C4273829 MEDGEN:895207 Orphanet:250932 GARD:20686" "UMLS:C0333694 MeSH:D057891 ICD10:Q92.7" - "A tumor-like inflammatory lesion of the lung that is composed of PLASMA CELLS and fibrous tissue. It is also known as an inflammatory pseudotumor, often with calcification and measuring between 2 and 5 cm in diameter." "UMLS:C0085269 MEDGEN:38832 ICD9:518.89 SCTID:1648002 MESH:D016726 MeSH:D016726 SNOMEDCT:707373004 DOID:3677 MONDO:0006933 icd11.foundation:215620908" "A disease involving the placenta." "MONDO:0005917 DOID:780 MeSH:NoID MESH:D010922 SCTID:125586008 ICD9:646.9 UMLS:C0032045 MEDGEN:10781 ICD9:656.70 NCIT:C26857" "The determination of the amount of N-acetyl-2-aminoadipate in a blood sample" "PubChem:443992 KEGG COMPOUND:C12986" "A primary or metastatic malignant neoplasm that affects the uterine ligament." "DOID:5727 UMLS:C0864950 MEDGEN:923070 NCIT:C126498" @@ -22342,7 +22187,6 @@ "A hereditary spastic paraplegia that is part of a larger syndrome." "MEDGEN:581446 UMLS:C0393556 GARD:19823 NANDO:1200054 SCTID:230261006 Orphanet:102013" "The upper part of the larynx, including the epiglottis; the area above the vocal cords." "NCIT:C12279 FMA:55476 SCTID:361953009" "Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, cafC)-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner." "icd11.foundation:1668450131 Orphanet:1809 UMLS:C2930953 SCTID:721147000 MESH:C535621 MEDGEN:443941 GARD:280" - "Ischemic injury to the OPTIC NERVE which usually affects the OPTIC DISK (optic neuropathy, anterior ischemic) and less frequently the retrobulbar portion of the nerve (optic neuropathy, posterior ischemic). The injury results from occlusion of arterial blood supply which may result from TEMPORAL ARTERITIS; ATHEROSCLEROSIS; COLLAGEN DISEASES; EMBOLISM; DIABETES MELLITUS; and other conditions. The disease primarily occurs in the sixth decade or later and presents with the sudden onset of painless and usually severe monocular visual loss. Anterior ischemic optic neuropathy also features optic disk edema with microhemorrhages. The optic disk appears normal in posterior ischemic optic neuropathy. (Glaser, Neuro-Ophthalmology, 2nd ed, p135)" "MONDO:0006649 icd11.foundation:632323575 DOID:12010 MEDGEN:199716 SNOMEDCT:404659001 SCTID:404659001 MeSH:D018917 UMLS:C0751711 GARD:9790 MedDRA:10068250 MESH:D018917 ICD9:377.41" "A malignant neoplasm arising from the endothelial cells of the lymphatic vessels." "UMLS:C0024224 MESH:D008204 EFO:1000339 ICD9:171.9 DOID:2689 NCIT:C3205 ICDO:9170/3 MONDO:0006282 MEDGEN:6154 SCTID:403986008" "Absence or underdevelopment of the breasts." "UMLS:C4023911" "Orphanet:659702 MEDGEN:934653 UMLS:C4310686 OMIM:617164" @@ -22421,7 +22265,7 @@ "The determination of the amount of high affinity cgmp-specific 3',5'-cyclic phosphodiesterase 9a in a sample" "PMID:28240269" "Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness." "UMLS:C1969652 DOID:0110975 GARD:16963 Orphanet:140908 OMIM:611377 SCTID:770406002 MEDGEN:409880 icd11.foundation:891810441" "Dacryocystitis - osteopoikilosis syndrome is characterized by the association of dacryocystitis and osteopoikilosis. Dacryocystitis, an infection of the lacrymal sac, is likely to develop in case of stenosis of lacrymal canal, this stenosis being linked with the bone defect." "UMLS:C1833698 OMIM:166705 MeSH:C536061" - "A beta-alanine derivative that is propionic acid bearing a ureido group at position 3." "Gmelin:675230 CAS:462-88-4 PMID:22770225 Reaxys:1705263 KEGG:C02642 MetaCyc:3-UREIDO-PROPIONATE PDBeChem:URP PMID:1536562 Beilstein:1705263 HMDB:HMDB0000026 Wikipedia:3-Ureidopropionic_acid PMID:17190852" + "A beta-alanine derivative that is propionic acid bearing a ureido group at position 3." "Gmelin:675230 CAS:462-88-4 PMID:22770225 Reaxys:1705263 KEGG:C02642 MetaCyc:3-UREIDO-PROPIONATE PDBeChem:URP PMID:1536562 HMDB:HMDB0000026 Wikipedia:3-Ureidopropionic_acid PMID:17190852" "Is a quantification of thyroid-stimulating hormone (also known as TSH or thyrotropin). a hormone that stimulates the thyroid gland to produce thyroxine (T4), and then triiodothyronine (T3) which stimulates the metabolism of almost every tissue in the body.[1] It is a glycoprotein hormone synthesized and secreted by thyrotrope cells in the anterior pituitary gland, which regulates the endocrine function of the thyroid gland. A TSH test is used in the diagnosis and monitoring of thyroid conditions." "MEDGEN:1778116 GARD:15195 OMIM:249210 NCIT:C98982 Orphanet:2241 MESH:C536138 DOID:0060610 SCTID:253781004 UMLS:C5542316" "Quantification of BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like in a sample." "PMID:29875488" @@ -22472,7 +22316,6 @@ "D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid." "OMIM:613657 OMIM:600721 ICD10:E72.8" - "A day is a derived time unit which is equal to 24 hours." "SNOMEDCT:258703001 NCIt:C25301" "Human esophagus adenocarcinoma cell line" "RRID:CVCL_JY35 PMID:20075370" "A aspergillosis that involves the lung." "SNOMEDCT:6042001 MedDRA:10059259 UMLS:C2350529 MESH:D055732 MEDGEN:390019 DOID:0050153 MONDO:0000266 MeSH:D055732" @@ -22484,7 +22327,6 @@ "Quantification of the amount of X-12329 in a sample." "PMID:24816252" "Quantification of phosphatidylcholine diacyl C36:6 measurement in a sample." "PMID:26068415" - "The inner layer of the connective tissue that seals the joint." "NCIt:C12473 MeSH:D013583" "ICD9:728.5 SCTID:85551004 UMLS:C0152093 ICD10CM:M35.7 MEDGEN:508885 DOID:13781" "Inflammation of the conjunctiva in a newborn due to Neisseria gonorrhoeae which was acquired during labor and delivery." "ICD10EXP:A54.3+ ICD10EXP:H13.1* SCTID:231858009 ICD10CM:A54.31 NCIT:C116816 GARD:2546 MEDGEN:1830271 icd11.foundation:884042621 UMLS:C5779547 Orphanet:1482" @@ -22494,7 +22336,6 @@ "Floor of the embryonic pharynx." "FBbt:00005614" "RRID:CVCL_2478 CLO:0003667" "The chemical reactions and pathways involving the phosphate group, the anion or salt of any phosphoric acid." - "The inability of the ovaries to function. [ NCI ]" "DOID:1414 ICD9:256.39 NCIT:C113351 ICD9:256.3 ICD10CM:E28 UMLS:C0154208 MedDRA:10033141 icd11.foundation:1801368748 ICD9:256.8 MEDGEN:509544 ICD10:E28 ICD9:256.9 MedDRA:10033142 SCTID:37102008 MedDRA:10033143 MONDO:0001889" "The amount of a CLIP-associating protein 1 when measured in blood." "PMID:37794183" "Quantification of the amount of 2-(dimethylamino) guanosine in a sample." "PMID:33634981" "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vaccine. A vaccine is a preparationcontaining substances with antigenic properties administered to activate the immune system, thereby inducing an immune response." @@ -22505,7 +22346,6 @@ "A steroid sulfate that is 5alpha-pregnane-3beta,20alpha-diol in which both hydroxy hydrogens have been replaced by sulfo groups." "CAS:27935-53-1" "A malignant soft tissue neoplasm arising from the anus. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and Kaposi sarcoma." "UMLS:C1332277 MEDGEN:233982 NCIT:C5611 DOID:4067" "An undecenoate that is the conjugate base of 10-undecenoic acid." - "A tonsillitis which involves collection of pus beside the tonsil (peritonsillar space). It is caused by both aerobic and anaerobic bacteria. Commonly involved species include streptococci, staphylococci and hemophilus. Progressively worsening unilateral sore throat and pain during swallowing usually are the earliest symptoms. As the abscess develops, persistent pain in the peritonsillar area, fever, malaise, headache and a distortion of vowels informally known as \"\\hot potato voice\\\" may appear. Neck pain associated with tender, swollen lymph nodes, referred ear pain and halitosis are also common." "ICD10CM:J36 SCTID:15033003 UMLS:C0031157 icd11.foundation:1782446047 MedDRA:10034686 ICD9:475 MONDO:0005906 DOID:12765 MeSH:D000039 MESH:D000039 MEDGEN:45819 ICD10:J36 NCIT:C128322" "The amount of a centrosomal protein 20 when measured in blood." "PMID:37794183" "NCIt:C117163 BTO:0002201 RRID:CVCL_0292 CLO:0003666" "Orphanet:294990" @@ -22633,7 +22473,7 @@ "A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor." "EFO:1000527 UMLS:C1710096 ONCOTREE:SNUC MONDO:0006411 MESH:C537344 SCTID:697993003 DOID:0080799 NCIT:C54294 GARD:0009249 MEDGEN:313704" "Systematic and extensive loss of memory caused by organic or psychological factors. The loss may be temporary or permanent, and may involve old or recent memories." "UMLS:C0002625 ICD9:294.0 MEDGEN:1882 DOID:10914 SCTID:3298001 icd11.foundation:386330688" "A benign, slow-growing neoplasm that arises from the dermis or subcutaneous tissue. It is characterized by the presence of well-differentiated smooth muscle cells which are arranged around numerous vessels." "MESH:D018229 UMLS:C0206653 EFO:1000806 DOID:4265 NCIT:C3747 MEDGEN:60202 EFO:1000084 ICDO:8894/0 MONDO:0006646" - "Catalysis of the hydrolysis of terminal, non-reducing beta-D-galactose residues in beta-D-galactosides." "Reactome:R-HSA-1606312 Reactome:R-HSA-1630306 Reactome:R-HSA-2265534 Reactome:R-HSA-2090079 Reactome:R-HSA-9036061 EC:3.2.1.23 MetaCyc:3.2.1.23-RXN MetaCyc:BGALACT-PWY Reactome:R-HSA-1605624 Reactome:R-HSA-9840795 Reactome:R-HSA-1793217" + "Catalysis of the hydrolysis of terminal, non-reducing beta-D-galactose residues in beta-D-galactosides." "Reactome:R-HSA-1606312 Reactome:R-HSA-1630306 Reactome:R-HSA-2265534 Reactome:R-HSA-2090079 Reactome:R-HSA-9036061 EC:3.2.1.23 MetaCyc:3.2.1.23-RXN Reactome:R-HSA-1605624 Reactome:R-HSA-9840795 Reactome:R-HSA-1793217" "Quantification of cerebellin-1 in a sample." "PMID:29875488" "Any biological process that results in permanent cessation of all vital functions of a cell. A cell should be considered dead when any one of the following molecular or morphological criteria is met: (1) the cell has lost the integrity of its plasma membrane; (2) the cell, including its nucleus, has undergone complete fragmentation into discrete bodies (frequently referred to as apoptotic bodies). The cell corpse (or its fragments) may be engulfed by an adjacent cell in vivo, but engulfment of whole cells should not be considered a strict criteria to define cell death as, under some circumstances, live engulfed cells can be released from phagosomes (see PMID:18045538)." "MeSH:D016923" @@ -22689,7 +22529,6 @@ "UMLS:C3553929 NCIT:C155752 OMIM:614859 DOID:0080478 GARD:15858 MEDGEN:766843 MESH:C566633" "Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy." "UMLS:C4518345 SCTID:734031008 ICD10CM:H47.4 MEDGEN:1392790 Orphanet:324353 GARD:21438" "A congenital malformation with a cleft (gap or opening) in the midline of the face." "UMLS:C4022007" - "A primary or metastatic malignant tumor involving the pancreas. Representative examples include carcinoma and lymphoma. -- 2003" "NCIT:C9005 OMIM:618680 ICD9:157.2 ICD9:157.0 ICD9:157.8 ICD9:157.1 MONDO:0009831 DOID:1793 NCIt:C9005" "A wart in the plantar surface of the foot. It is caused by human papillomavirus." "SCTID:63440008 ICD10:B07.0 EFO:1002023 NCIT:C26913 ICD9:078.12 MONDO:0001795 DOID:13775 UMLS:C0042548 ICD10CM:B07.0 MEDGEN:53003 COHD:137785" "A carcinoma that arises from epithelial cells of the penis" "MEDGEN:208877 UMLS:C0853105 DOID:3449 EFO:1000465 NCIT:C9061 SCTID:372106005 GARD:0009366 MONDO:0006360" "An inflammatory process affecting the anus. It is usually caused by sexually transmitted infectious agents and/or inflammatory bowel disease." "ICD9:569.49 MeSH:D011349 SNOMEDCT:3951002 NCIt:C38011 SCTID:3951002 MEDGEN:46113 DOID:3127 NCIT:C38011 MedDRA:10036774 UMLS:C0033246 MESH:D011349 MONDO:0005538" @@ -22748,13 +22587,13 @@ "An instance of hyperparathyroidism that is caused by an inherited genomic modification in an individual." "Orphanet:208596 MEDGEN:1843372 OMIMPS:145000 UMLS:C5680826 GARD:20408" "The amount of a ADP-ribosylation factor-binding protein GGA1 when measured in blood serum." "Environmental stress is a treatment where some aspect of the environment is perturbed in order to stress the organism or culture, e.g. change in temperature, change in watering regime" "MO:227" - "A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus." "ICD9:375.89 MEDGEN:5994 MONDO:0001854 UMLS:C0022904 ICD9:375 ICD10:H04 ICD9:375.69 NCIT:C26809 SCTID:31053003 MESH:D007766 ICD9:375.9 DOID:1400" + "A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus." "ICD9:375.69 UMLS:C0022904 DOID:1400 ICD9:375 ICD9:375.89 MEDGEN:5994 NCIT:C26809 MONDO:0001854 SCTID:31053003 ICD10:H04 MESH:D007766 ICD9:375.9" "Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the TRIM2 gene." "MEDGEN:815985 DOID:0110161 Orphanet:397968 UMLS:C3809655 OMIM:615490 GARD:12451" "A defect in the focusing of light on the retina as in astigmatism, myopia, or hyperopia." "MESH:D012030 UMLS:C0034951 SCTID:39021009 MEDGEN:20508 DOID:9835" "Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (incl. syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987." "Orphanet:2145 GARD:18762 MEDGEN:1633959 UMLS:C4706536 icd11.foundation:2048918601" "The quantification of diacylglycerol 44:7 levels in a sample, typically blood " "PMID:34503513" "A generally slow growing tumor attached to the dura mater. It is composed of neoplastic meningothelial (arachnoidal) cells. It typically occurs in adults, often women and it has a wide range of histopathological appearances. Of the various subtypes, meningothelial, fibrous and transitional meningiomas are the most common. Most meningiomas are WHO grade I tumors, and some are WHO grade II or III tumors. Most subtypes share a common clinical behavior, although some subtypes are more likely to recur and follow a more aggressive clinical course. (Adapted from WHO)" "MESH:D008579 ICDO:9530/0 MEDGEN:7532 SCTID:302820008 ONCOTREE:MNG GARD:7015 MedDRA:10027191 HP:0002858 NORD:1434 NANDO:2200094 DOID:3565 Orphanet:2495 UMLS:C0025286 icd11.foundation:672106711 NCIT:C3230" - "A cephalotaxine-derived alkaloid ester obtained from Cephalotaxus harringtonia; used for the treatment of chronic or accelerated phase chronic myeloid leukaemia." "PDBeChem:HMT PMID:22075327 PMID:21294709 CAS:26833-87-4 PMID:22040954 PMID:23086639 PMID:20971952 PMID:21468038 PMID:21418889 PMID:21916787 PMID:22289991 PMID:22714632 PMID:21152934 PMID:22391162 KEGG:D08956 PMID:23053254 Drug_Central:4677 PMID:22054289 PMID:22917222 PMID:22967374 Beilstein:5687925 PMID:22580751 PMID:23109844 PMID:23059828 Patent:WO2007089878 PMID:21845438 PMID:22896000 Reaxys:5687925 PMID:21258877 PMID:22898909 PMID:23456623 Patent:US2010240887 LINCS:LSM-3716 PMID:21415308 Wikipedia:Omacetaxine_mepesuccinate PMID:21509439" + "A cephalotaxine-derived alkaloid ester obtained from Cephalotaxus harringtonia; used for the treatment of chronic or accelerated phase chronic myeloid leukaemia." "PDBeChem:HMT PMID:22075327 PMID:21294709 CAS:26833-87-4 PMID:22040954 PMID:23086639 PMID:20971952 PMID:21468038 PMID:21418889 PMID:21916787 PMID:22289991 PMID:22714632 PMID:21152934 PMID:22391162 KEGG:D08956 PMID:23053254 Drug_Central:4677 PMID:22054289 PMID:22917222 PMID:22967374 PMID:22580751 PMID:23109844 PMID:23059828 Patent:WO2007089878 PMID:21845438 PMID:22896000 Reaxys:5687925 PMID:21258877 PMID:22898909 PMID:23456623 Patent:US2010240887 LINCS:LSM-3716 PMID:21415308 Wikipedia:Omacetaxine_mepesuccinate PMID:21509439" "A clonal proliferation of myeloid cells and their precursors in the bone marrow, peripheral blood, and spleen. When the proliferating cells are immature myeloid cells and myeloblasts, it is called acute myeloid leukemia. When the proliferating myeloid cells are neutrophils, it is called chronic myelogenous leukemia." "MESH:D007951 ICD9:205 ICD9:205.9 ICD9:205.90 DOID:8692 UMLS:C0023470 NCIT:C3172 ICDO:9860/3 GARD:8226 SCTID:188732008 MEDGEN:7320 ICD9:205.80" "Any intermediate or product resulting from metabolism." "NCIt:C61154" "an allergic contact dermatitis (allergic phytodermatitis) that occurs from exposure to members of the plant genus Toxicodendron." "MESH:D011040 SCTID:410049000 ICD9:692.6 UMLS:C0032342 MEDGEN:10820 MONDO:0006616 DOID:3819" @@ -22781,7 +22620,7 @@ "ZFA:0001178" "Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumors that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region." "SNOMEDCT_US:80801001 SNOMEDCT_US:201091002 UMLS:C0037293 SNOMEDCT_US:31069005" - "A first-generation cephalosporin compound having [(5-methyl-1,3,4-thiadiazol-2-yl)sulfanyl]methyl and (1H-tetrazol-1-ylacetyl)amino side-groups at positions 3 and 7 respectively." "PMID:29017833 Drug_Central:530 Reaxys:4169371 PMID:2083978 KEGG:D02299 PMID:23702270 PMID:28543395 NCIt:C28913 VSDB:1910 KEGG:C06880 PMID:24462449 PMID:12569987 Patent:US3516997 SNOMEDCT:81088002 CAS:25953-19-9 DrugBank:DB01327 LINCS:LSM-34744 Beilstein:4169371 PMID:6176550 HMDB:HMDB0015422 MeSH:D002437 PMID:22011388 Wikipedia:Cefazolin" + "A first-generation cephalosporin compound having [(5-methyl-1,3,4-thiadiazol-2-yl)sulfanyl]methyl and (1H-tetrazol-1-ylacetyl)amino side-groups at positions 3 and 7 respectively." "PMID:29017833 Drug_Central:530 Reaxys:4169371 PMID:2083978 KEGG:D02299 PMID:23702270 PMID:28543395 NCIt:C28913 VSDB:1910 KEGG:C06880 PMID:24462449 PMID:12569987 Patent:US3516997 SNOMEDCT:81088002 CAS:25953-19-9 DrugBank:DB01327 LINCS:LSM-34744 PMID:6176550 HMDB:HMDB0015422 MeSH:D002437 PMID:22011388 Wikipedia:Cefazolin" "The amount of a cell surface glycoprotein MUC18 when measured in blood." "PMID:37794183" "a noncardiogenic form of pulmonary edema that develops in unacclimatized healthy individuals at altitudes above 2500–3000 m" "MeSH:C535833" "Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease." "GARD:12638 OMIM:612260 NANDO:2200763 UMLS:C2677092 NANDO:1200362 MESH:C567379 MEDGEN:383023 Orphanet:183713 icd11.foundation:444523526" @@ -22886,14 +22725,12 @@ "A disease involving the skeletal system." "ICD10:M43 MONDO:0005172 SCTID:88230002 MEDGEN:538042 UMLS:C0263661" "Quantification of the susceptibility of developing multiple keratinocyte carcinomas (mKC), which is defined as the presence of more than one basal cell carcinoma (BCC) or squamous cell carcinoma (SCC)." "PMID:28081215" "A well-circumscribed mass composed of tuberculous granulation tissue that may occur in the cerebral hemispheres, cerebellum, brain stem, or perimeningeal spaces. Multiple lesions are quite common. Management of intracranial manifestations vary with lesion site. Intracranial tuberculomas may be associated with seizures, focal neurologic deficits, and intracranial hypertension. Spinal cord tuberculomas may be associated with localized or radicular pain, weakness, sensory loss, and incontinence. Tuberculomas may arise as opportunistic infections, but also occur in immunocompetent individuals." "Orphanet:641396 SNOMEDCT:10706006 MeSH:D016862 icd11.foundation:729372485 ICD9:013.20 UMLS:C0275904 ICD9:013.35 ICD9:013.2 MedDRA:10061391 ICD10:A17 SCTID:186217006 MeSH:D020306 MEDGEN:82907 DOID:1638 MONDO:0005696" - "A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma." "MEDGEN:438 NCIT:C60781 SCTID:147101000119108 Orphanet:94 MESH:D001254 EFO:0000272 DOID:3069 NCIT:C6958 UMLS:C0004114 MedDRA:10003571 ONCOTREE:ASTR MONDO:0019781 ICDO:9400/3" "KEGG:C00715 CAS:2236-60-4" "Quantification of interferon alpha-8 in a sample." "PMID:29875488" "Toxicity that causes injury to the liver or impairs the liver function. Usually caused by exposure to xenobiotics such as drugs, food additives, alcohol, chlorinated solvents, peroxidized fatty acids, fungal toxins, radioactive isotopes, environmental toxicants, and some medicinal plants. This can include cholestasis, liver injury, hepatitis, jaundice. " "MedDRA:10019851 MeSH:D056486" - "The fibromuscular tubular canal through which urine is discharged from the bladder to the exterior via the external urinary meatus; in males, the urethra is joined by the ejaculatory ducts and serves as a passageway for semen during ejaculation, as well as a canal for urine during voiding; in females, the urethra is shorter and emerges above the vaginal opening." "XAO:0000153 SCTID:302513006 MESH:D014521 CALOHA:TS-1132 MIAA:0000121 EFO:0000931 Wikipedia:Urethra GAID:390 EMAPA:30901 UMLS:C0041967 NCIT:C12417 BTO:0001426 MA:0000379 VHOG:0001264 MAT:0000121 FMA:19667 EV:0100099 galen:Urethra" + "The fibromuscular tubular canal through which urine is discharged from the bladder to the exterior via the external urinary meatus; in males, the urethra is joined by the ejaculatory ducts and serves as a passageway for semen during ejaculation, as well as a canal for urine during voiding; in females, the urethra is shorter and emerges above the vaginal opening." "XAO:0000153 SCTID:302513006 MESH:D014521 CALOHA:TS-1132 MIAA:0000121 EFO:0000931 Wikipedia:Urethra GAID:390 EMAPA:30901 UMLS:C0041967 NCIT:C12417 BTO:0001426 MA:0000379 VHOG:0001264 FMA:19667 MAT:0000121 EV:0100099 galen:Urethra" "A histological variant of medulloblastoma, an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache." "UMLS:C0751291 NCIT:C4956 GARD:17215 ONCOTREE:DMBL Orphanet:251863 ICDO:9471/3 MEDGEN:148272" - "A pneumonia that is caused by the bacterial genus Rickettsia. This infection results in pleural effusions and pulmonary edema." "UMLS:C0032307 MESH:D011022 SCTID:233621003 ICD9:484.8 MEDGEN:45973 DOID:13275 MONDO:0005947 MeSH:D011022" "Quantification of the amount of D-Erythronolactone in a sample." "PMID:33634981" "The determination of the amount of peptidyl-prolyl cis-trans isomerase A in a sample" "PMID:28240269" "MicroRNA crosslinking and immunoprecipitation (miR-CLIP)" "PMID:25531890" @@ -22925,7 +22762,7 @@ "A bud that will develop into a flower." "BTO:0000470 NCIt:C79637" "Blockage of the opening between the bladder and the urethra resulting in the reduction or prevention of the urine flow from the bladder into the urethra." "ICD10CM:N32.0 UMLS:C0005694 ICD10:N35 MESH:D001748 MONDO:0006679 MEDGEN:14151 icd11.foundation:441939472 MedDRA:10005053 DOID:13948 MeSH:D001748 ICD9:596.0 SCTID:399072004 SNOMEDCT:399072004" - "A N-acylglycinate that is the conjugate base of glycochenodeoxycholic acid." "Beilstein:3730023 Reaxys:3730023" + "A N-acylglycinate that is the conjugate base of glycochenodeoxycholic acid." "Reaxys:3730023" "GARD:3096 Orphanet:495 UMLS:C1851480 MEDGEN:338702" "Emesis and queasiness occurring after anesthesia." "MeSH:D020250" @@ -22933,7 +22770,6 @@ "UMLS:C1833797 icd11.foundation:609162974 OMIM:165550 SCTID:724999003 GARD:8419 Orphanet:637061 MEDGEN:322281 Orphanet:137902 NORD:1528 DOID:0111531" - "congenital dermal melanocytosis, and dermal melanocytosis is a benign, flat, congenital birthmark with wavy borders and irregular shape." "NCIT:C3945 MESH:D049328 MONDO:0006582 MedDRA:10027815 SCTID:40467008 Wikipedia:Mongolian_spot MEDGEN:75591 UMLS:C0265985 DOID:4702" "Quantification of glucose-6-phosphate levels in a sample." "PMID:23823483" "INFLAMMATION of the PANCREAS that is characterized by recurring or persistent ABDOMINAL PAIN with or without STEATORRHEA or DIABETES MELLITUS. It is characterized by the irregular destruction of the pancreatic parenchyma which may be focal, segmental, or diffuse." "NCIt:C84637 OMIM:167800 MeSH:D050500 ICD9:577.1 MESH:D050500 OMIM:608189 SCTID:235494005 SNOMEDCT:235494005 icd11.foundation:1758007371 UMLS:C0149521 MEDGEN:101753 NCIT:C84637 MedDRA:10009093 MONDO:0005003" "Hereditary cancer predisposition due to variation(s) in the ATM gene. Pathogenic germline variation in ATM confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including breast cancer, ovarian cancer, pancreatic cancer, and prostate cancer." @@ -22998,7 +22834,7 @@ "A processed genotype data file is a data file which stores information about genotypeswhich has been processed by some form of analysis method, for example normalization or noise reduction." "A maleate salt obtained by reaction of 1-[1-(1-benzothiophen-2-yl)cyclohexyl]piperidine with one equivalent of maleic acid. A potent dopamine re-uptake inhibitor with a behavioral profile different from that of PCP and similar to that of cocaine." "CAS:207455-25-2 Chemspider:8426776" "The amount of a procollagen galactosyltransferase 2 when measured in blood serum." - "A dichlorobenzene carrying chloro groups at positions 1 and 4." "Beilstein:1680023 PMID:17750169 PMID:10817668 Wikipedia:1,4-Dichlorobenzene Gmelin:49722 HMDB:HMDB0041971 Patent:WO2010122925 KEGG:C07092 Reaxys:1680023 CAS:106-46-7 PMID:23899931 UM-BBD_compID:c0593" + "A dichlorobenzene carrying chloro groups at positions 1 and 4." "PMID:17750169 PMID:10817668 Wikipedia:1,4-Dichlorobenzene Gmelin:49722 HMDB:HMDB0041971 Patent:WO2010122925 KEGG:C07092 Reaxys:1680023 CAS:106-46-7 PMID:23899931 UM-BBD_compID:c0593" "An instance of porencephaly that is caused by an inherited modification of the individual's genome." "Orphanet:99810 MEDGEN:401353 GARD:2258 UMLS:C1867983 DOID:0112313 OMIMPS:175780 icd11.foundation:1833583032" "Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision." "SCTID:231934009 MEDGEN:573065 GARD:21168 Orphanet:293462 icd11.foundation:2027634766 ICD9:371.56 UMLS:C0339282" @@ -23036,9 +22872,7 @@ "Neutropenia-monocytopenia-deafness syndrome is characterized by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections." "MEDGEN:1383523 UMLS:C4518430 Orphanet:2690 GARD:3982" "The amount of a thioredoxin domain-containing protein 5 when measured in blood serum." - "Inflammation of the KIDNEY PELVIS and KIDNEY CALICES where urine is collected before discharge, but does not involve the renal parenchyma (the NEPHRONS) where urine is processed." "MEDGEN:48268 MedDRA:10037586 NCIT:C34964 MONDO:0006938 SCTID:27174002 UMLS:C0034183 MESH:D011702 DOID:2744 NCIt:C34964 MeSH:D011702 MedDRA:10037584 SNOMEDCT:27174002" "quantification of the amount of C-C motif chemokine 25 in a sample" - "A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough." "MEDGEN:9705 DOID:10457 NCIT:C128339 MeSH:D007877 MONDO:0005824 NORD:1354 SCTID:195889001 MESH:D007877 UMLS:C0023241 ICD9:482.84" "Quantification of the amount of phosphatidylcholine (O-18:1/20:4, O-16:0/22:5n3) in a sample." "PMID:35347128" "A disease that involves the intervertebral joint." "UMLS:C0541407 MONDO:0037847 MEDGEN:1853166 SCTID:372109003 Wikipedia:Intervertebral_disc" @@ -23058,7 +22892,6 @@ "Any of a number of aggregations of neurons, glial cells and their processes, surrounded by a glial cell and connective tissue sheath (plural: ganglia)." "MAT:0000207 FBbt:00005137" "Either of a pair of glandular pouches that lie one on either side of the male reproductive tract posterolateral to the urinary bladder and in the human male secrete a sugar- and protein-containing fluid into the ejaculatory duct." "AAO:0010788 EFO:0000986 VHOG:0001379 MAT:0000171 EMAPA:19180 UMLS:C0036628 SCTID:181434004 CALOHA:TS-0919 MA:0000410 GAID:394 MIAA:0000171 EV:0100106 FMA:19386 NCIT:C12787 Wikipedia:Seminal_vesicle MESH:D012669 BTO:0001234" "A disorder characterized by personality change, impaired functioning, and loss of touch with reality. It may be a manifestation of schizophrenia, bipolar disorder or brain tumor." "SCTID:69322001 MEDGEN:19568 ICD9:298.8 DOID:2468 HP:0000709 NCIt:C78576 NCIT:C78576 MedDRA:10061920 MedDRA:10037234 UMLS:C0033975 MONDO:0005485 ICD9:298.9" - "A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations. -- 2004" "SNOMEDCT:41329004 MEDGEN:19397 MedDRA:10061529 NCIT:C3340 SCTID:441456002 MeSH:D011127 ICD10CM:N84 SNOMEDCT:441456002 MONDO:0005079 MESH:D011127 NCIt:C3340 UMLS:C0032584" "Gamma-retrovirus integration profiling (GRIP)" "PMID:27097319" "Human T-cell acute lymphoblastic leukemia cell line" "RRID:CVCL_DR61" @@ -23086,7 +22919,6 @@ "The determination of the amount of prefoldin subunit 5 in a sample" "PMID:28240269" "Classification of drugs affecting the alimentary tract and metabolism." "ATC_code:A" - "Nosophobia is the irrational fear of contracting a disease, a type of specific phobia. Primary fears of this kind are fear of contracting pulmonary tuberculosis, venereal diseases, cancer, and heart diseases." "Wikipedia:Nosophobia DOID:0060048 UMLS:C0522182 MONDO:0000600 MEDGEN:637105 MedDRA:10063546" "Unilateral renal agenesis (URA) is a form of renal agenesis characterized by the complete absence of development of one kidney accompanied by an absent ureter." "Orphanet:93100 NCIT:C101220 icd11.foundation:760295498 UMLS:C0266294 MedDRA:10053624 ICD10CM:Q60.0 GARD:16804 MEDGEN:75607" "a skin infection characterised by crusted sores beneath which ulcers form. It is a deep form of impetigo, as the same bacteria causing the infection are involved. Ecthyma causes deeper erosions of the skin into the dermis." "MedDRA:10014141 DOID:11907" "SNOMEDCT:80268001" @@ -23105,7 +22937,7 @@ "An acute purulent infection of the sebaceous glands of Zeis at the base of the eyelashes, of the apocrine sweat glands of Moll or the meibomian sebacious glands often caused by staphylococcus infections. Hordeola can either occur as Hordeola externa affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll or as Hordeola interna affecting the meibomian sebacious glands. In contrast to chalazia, hordeola are extremely painful and can cause extreme local swelling." "SNOMEDCT_US:1489008 UMLS:C4280376 SNOMEDCT_US:397513003 UMLS:C0019917" "FMA:3884" "Quantification of the amount of eicosapentaenoate EPA; 20:5n3 in a sample." "PMID:24816252" - "Inflammation of the parotid glands." "MEDGEN:45335 MeSH:D010309 SCTID:14756005 MedDRA:10034038 MESH:D010309 NCIT:C114281 UMLS:C0030583 MONDO:0005900 DOID:10301" + "Inflammation of the parotid glands." "SCTID:14756005 MEDGEN:45335 MeSH:D010309 MedDRA:10034038 MESH:D010309 NCIT:C114281 UMLS:C0030583 MONDO:0005900 DOID:10301" "Quantification of MIP18 family protein FAM96A in a sample." "PMID:29875488" "OMIM:128101 ICD10:G24.1" "The layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule; it is a fusion of the endothelial cell and podocyte basal laminas and acts as a physical barrier and an ion-selective filter." "TAO:0005285 UMLS:C0599297 ZFA:0005285 Wikipedia:Glomerular_basement_membrane EMAPA:28251 NCIT:C32683 MESH:D050533 SCTID:243897006 FMA:74274 MA:0001659 EMAPA:30965" @@ -23156,7 +22988,6 @@ "UMLS:C1856727 OMIM:228940 ICD10:Q87.8" "The amount of a proline-rich transmembrane protein 2 when measured in blood serum." "Unilateral renal agenesis (URA) is a form of renal agenesis (see this term) characterized by the complete absence of development of one kidney accompanied by an absent ureter." "UMLS:C0266294 MedDRA:1005MedDRA:1001 MedDRA:10053624 ICD10:Q60.0" - "A chronic inflammatory condition of the KIDNEY resulting in diffuse renal destruction, a grossly enlarged and nonfunctioning kidney associated with NEPHROLITHIASIS and KIDNEY STONES." "MeSH:D011705 UMLS:C0034188 MEDGEN:19591 NCIT:C123038 SCTID:38898003 MESH:D011705 ICD9:582.89 MONDO:0007022 DOID:11401 SNOMEDCT:38898003 MedDRA:10074389" "The amount of a interleukin-6 receptor subunit beta when measured in blood serum." "SNOMEDCT:449310008 NCIt:C77097" @@ -23236,7 +23067,6 @@ "Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." "Wikipedia:Incongenita_pigmenti OMIM:308300 DOID:12305 icd11.foundation:1542530268 SCTID:367520004 NCIT:C84787 NORD:1300 NANDO:2200974 GARD:6778 UMLS:C0021171 MEDGEN:7049 Orphanet:464 MESH:D007184" "A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis." "NCIT:C4028 EFO:1000172 ICD10CM:C53.0 GARD:20487 ONCOTREE:CESC UMLS:C0279671 icd11.foundation:1544785014 SCTID:254886006 Orphanet:213767 ICD10:C53.1 MEDGEN:124644 ICD10:C53.8 MONDO:0006143 DOID:3744 ICD10:C53.0" "ICD10:G12.2 UMLS:C0393551" - "A formative plant tissue usually made up of small cells capable of dividing indefinitely and giving rise to similar cells or to cells that differentiate to produce the definitive tissues and organs." "MAT:0000006 PO:0009013 BTO:0000852 MeSH:D018519" "The quantification of some aspect of eye colour, such as hue, saturation or brightness." "PMID:30664655" "Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure." "DOID:1056 MedDRA:10051707 Orphanet:534 NORD:1379 NCIT:C84940 MEDGEN:18145 icd11.foundation:1392767390 GARD:3295 SCTID:79385002 MESH:D009800 NANDO:2100028 NANDO:2200188 ICD9:270.8 OMIM:309000 UMLS:C0028860" "An inherited or acquired condition characterized by a partial or complete loss of hearing in one or both ears. The level of impairment varies from a mild but important loss of sensitivity to a total loss of hearing." "SNOMEDCT:162344009 NCIt:C27644 MedDRA:10011878 OMIM:301018 MeSH:D003638" @@ -23343,7 +23173,6 @@ "Enlargement of the THYROID GLAND that may increase from about 20 grams to hundreds of grams in human adults. Goiter is observed in individuals with normal thyroid function (euthyroidism), thyroid deficiency ( HYPOTHYROIDISM), or hormone overproduction ( HYPERTHYROIDISM). Goiter may be congenital or acquired, sporadic or endemic ( GOITER, ENDEMIC)." "MedDRA:10018496 HP:0000853 MEDGEN:42270 MeSH:D006042 ICD10:E04 SCTID:3716002 NCIt:C26785 MESH:D006042 SNOMEDCT:3716002 MedDRA:10018497 DOID:12176 UMLS:C0018021 MedDRA:10018491 NCIT:C26785 MONDO:0005397 ICD9:240.9" "The amount of a transcription cofactor HES-6 when measured in blood serum." - "Infections with bacteria of the species STREPTOCOCCUS PNEUMONIAE." "MedDRA:10061353 SCTID:16814004 ICD9:041.2 MESH:D011008 MONDO:0005114 MEDGEN:18528 UMLS:C0032269 MeSH:D011008 SNOMEDCT:16814004 ICD10:J13" "An adenoid cystic carcinoma that arises from the trachea. It spreads to the submucosal tracheal tissue and to regional lymph nodes." "MEDGEN:91058 DOID:4875 EFO:1000598 UMLS:C0345945 NCIT:C6051 MONDO:0006471 SCTID:254619006" "A benign smooth muscle neoplasm arising from the vulva. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "DOID:5142 MEDGEN:274417 NCIT:C40326 UMLS:C1520087" "The amount of a Phosphatidylcholine (O-18:0_14:0) when measured in blood serum." @@ -23418,7 +23247,6 @@ "Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC." "NCIT:C99011 MESH:D058502 NORD:1566 GARD:7359 ICD9:759.89 Orphanet:1335 SCTID:281587000 UMLS:C0559483 OMIM:313850 MEDGEN:107540" "Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they may show abnormal movements, such as ataxia, dysmetria, and myoclonus. The most severely affected patients are hypotonic at birth and die in infancy (summary by Abrams et al., 2015 and Wan et al., 2016)." "OMIM:616505" "The amount of a segment polarity protein dishevelled homolog DVL-2 when measured in blood serum." - "Opening or penetration through the wall of the INTESTINES." "SCTID:56905009 MESH:D007416 UMLS:C0021845 NCIT:C39611 ICD9:777.6 MeSH:D007416 NCIt:C39611 MEDGEN:9525 SNOMEDCT:56905009 DOID:2074 MONDO:0006807 MedDRA:10022694 ICD10:P78.0 ICD9:569.83" "Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." "MeSH:C536201 UMLS:C1869122 OMIM:130070 OMIM:615349 ICD10:Q79.6" "The amount of a coronin-1A when measured in blood." "PMID:37794183" "A multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations." "MESH:C538132 DOID:0050331 OMIMPS:149730 GARD:6848 MEDGEN:78545 Orphanet:2363 SCTID:23817003 NORD:1345 DOID:0081370 UMLS:C0265269 ICD9:759.89" @@ -23430,7 +23258,6 @@ "Quantification of the amount of X-12689 in a sample." "PMID:35347128" "The presence of multiple cysts in both kidneys." "Fyler:4508 SNOMEDCT_US:82525005 UMLS:C1567435 UMLS:C0022680" "Any Alzheimer disease in which the cause of the disease is a mutation in the ADAM10 gene." "OMIM:615590 UMLS:C3810041 DOID:0110050 MEDGEN:816371" - "Infection with CYTOMEGALOVIRUS, characterized by enlarged cells bearing intranuclear inclusions. Infection may be in almost any organ, but the salivary glands are the most common site in children, as are the lungs in adults." "MedDRA:10011831 NCIT:C53649 MEDGEN:8239 ICD9:078.5 NCIt:C112314 MESH:D003586 MeSH:D003586 SCTID:28944009 MONDO:0005132 UMLS:C0010823 SNOMEDCT:28944009 ICD10:B25" "A severe degree of short stature, more than -4 SD from the mean corrected for age and sex." "SNOMEDCT_US:237836003 SNOMEDCT_US:422065006 SNOMEDCT_US:237837007 UMLS:C0013336" "Includes individuals that either self-report or have been described as Asian but there was not sufficient information to allow classification as East Asian, Central Asian, South Asian or South-East Asian."@en "measurement of the percentages of fat, bone and muscle in human bodies" @@ -23583,7 +23410,6 @@ "Human Werner Syndrome (WS) cell line transformed with SV40" "RRID:CVCL_U281 CLO:0021582" "The amount of a disks large homolog 4 when measured in blood serum." - "An organismal quality inhering in a bearer by virtue of the bearer's ability to undergo sexual reproduction in order to differentiate the individuals or types involved." "MO:680 NCIt:C28421 MeSH:D012723 PATO:0000047" "A sporophyte vegetative stage (PO:0007134) that occurs during the interval between the first cell division of a plant zygote (PO:0000423) and one of the following: the beginning of the seed germination stage (PO:0007057) in seed plants, formation of the first vascular leaf (PO:0009025) in pteridophytes, the beginning of development of a sporangium (PO:0025094) in bryophytes, or the beginning of the formation of a plant organ (PO:0009008) such as a root (PO:0009005), shoot axis (PO:0025029), or vascular leaf (PO:0009025) in a cultured plant embryo (PO:0000010)." "Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome is characterized by a hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients in two families. Transmission is autosomal recessive." "GARD:12487 Orphanet:1495 MEDGEN:928199 SCTID:722455002 UMLS:C4302530" "Quantification of the amount of stearidonate 18:4n3 in a sample." "PMID:24816252" @@ -23631,7 +23457,7 @@ "OBSOLETE. Any constituent part of the extracellular region, the space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers constituent parts of the host cell environment outside an intracellular parasite." "Category of disorders related to menstruation." "http://purl.obolibrary.org/obo/NCIT_C34815 PMID:25867717 MedDRA:10027327" "Quantification of coiled-coil domain-containing protein 134 in a sample." "PMID:29875488" - "A dimethylxanthine having the two methyl groups located at positions 3 and 7. A purine alkaloid derived from the cacao plant, it is found in chocolate, as well as in a number of other foods, and is a vasodilator, diuretic and heart stimulator." "PMID:21871761 KNApSAcK:C00001509 PMID:18632476 HMDB:HMDB0002825 PMID:22770225 PMID:22824731 Reaxys:16464 PMID:9468592 Wikipedia:Theobromine KEGG:C07480 PDBeChem:37T PMID:28166217 PMID:22751681 PMID:23094271 PMID:11600064 Drug_Central:2618 PMID:10456233 PMID:23236361 PMID:21839757 Gmelin:143367 PMID:18964243 PMID:16979558 PMID:22866022 MetaCyc:3-7-DIMETHYLXANTHINE DrugBank:DB01412 CAS:83-67-0 Beilstein:16464 LINCS:LSM-5483 PMID:19018565" + "A dimethylxanthine having the two methyl groups located at positions 3 and 7. A purine alkaloid derived from the cacao plant, it is found in chocolate, as well as in a number of other foods, and is a vasodilator, diuretic and heart stimulator." "PMID:21871761 KNApSAcK:C00001509 PMID:18632476 HMDB:HMDB0002825 PMID:22770225 PMID:22824731 PMID:9468592 Reaxys:16464 Wikipedia:Theobromine KEGG:C07480 PDBeChem:37T PMID:28166217 PMID:22751681 PMID:23094271 PMID:11600064 Drug_Central:2618 PMID:10456233 PMID:23236361 PMID:21839757 Gmelin:143367 PMID:18964243 PMID:16979558 PMID:22866022 MetaCyc:3-7-DIMETHYLXANTHINE DrugBank:DB01412 CAS:83-67-0 LINCS:LSM-5483 PMID:19018565" "A disease involving a capillary." "SCTID:58729003 ICD9:448 ICD9:448.9 UMLS:C0155765 DOID:1271 MEDGEN:510074" "A disorder most often diagnosed in the pediatric years in which the individual displays marked impairment in social interaction and a repetitive, stereotyped pattern of behavior. The individual, however, displays no delay in language or cognitive development, which differentiates Asperger Syndrome from autism." "OMIM:300497 OMIM:300494 MeSH:D020817 icd11.foundation:366940030 SCTID:23560001 UMLS:C0236792 DOID:0050432 NCIt:C97159 MONDO:0005259 MEDGEN:68633 NCIT:C97159 SNOMEDCT:23560001 MESH:D020817 Orphanet:1162" @@ -23665,7 +23491,6 @@ "Frontal hairline with bilateral arcs to a low point in the midline of the forehead." "UMLS:C1853486" "Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection." "MESH:D016180 MONDO:0022034 UMLS:C0079680 DOID:622 MEDGEN:38233 MeSH:D016180" "The amount of a calcium-binding protein 2 when measured in blood." "PMID:37794183" - "Inflammation, often mild, of the conjunctiva caused by a variety of viral agents. Conjunctival involvement may be part of a systemic infection [MeSH]" "icd11.foundation:157616931 ICD10:B30 MedDRA:10047437 MONDO:0043541 MeSH:D003236 MEDGEN:3212 NCIT:C34509 MESH:D003236 UMLS:C0009774 SCTID:45261009" "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" "Quantification of beta-sarcoglycan in a sample." "PMID:29875488" @@ -23783,10 +23608,9 @@ "Quantification of the amount of 1-oleoyl-2-docosahexaenoyl-GPC (18:1/22:6) in a sample." "PMID:35347128" "Quantification of some aspect of the use of antihyperlipidemic drugs." "PMID:36653479" "An extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993." "MEDGEN:1666000 GARD:697 Orphanet:1074 UMLS:C4751231" - "An adrenal gland disease that is characterized by failure of the adrenal gland due to bleeding into the gland." "ICD10CM:A39.1 ICD10EXP:E35.1* GARD:9449 MeSH:D014884 UMLS:C1403891 SCTID:36102002 Orphanet:100067 MedDRA:10047847 MONDO:0006015 DOID:9931 MESH:D014884 ICD9:036.3 icd11.foundation:2072098125 NCIT:C85225 MEDGEN:234675 MedDRA:10047846 ICD10EXP:A39.1+" "Quantification of ezrin in a sample." "PMID:29875488" - "A 1,2-glycol compound produced via reaction of ethylene oxide with water." "PMID:17336832 PPDB:1310 KEGG:C15588 MetaCyc:GLYCOL PMID:23764541 PMID:10349109 PMID:23827374 PMID:24643482 PMID:17979222 Wikipedia:Ethylene_Glycol KNApSAcK:C00007409 PMID:17439666 PMID:16901854 PMID:17186009 Gmelin:943 UM-BBD_compID:c0542 PMID:18612987 PMID:25108762 PMID:9463526 KEGG:C01380 Reaxys:505945 PMID:24045699 CAS:107-21-1 PMID:15716482 Beilstein:505945 PDBeChem:EDO" + "A 1,2-glycol compound produced via reaction of ethylene oxide with water." "PMID:17336832 PPDB:1310 KEGG:C15588 MetaCyc:GLYCOL PMID:23764541 PMID:10349109 PMID:23827374 PMID:24643482 PMID:17979222 Wikipedia:Ethylene_Glycol KNApSAcK:C00007409 PMID:17439666 PMID:16901854 PMID:17186009 Gmelin:943 UM-BBD_compID:c0542 PMID:18612987 PMID:25108762 PMID:9463526 KEGG:C01380 Reaxys:505945 PMID:24045699 CAS:107-21-1 PMID:15716482 PDBeChem:EDO" "Quantification of triglycerides to total lipids in large VLDL." "A rare, benign, congenital genetic skin disorder characterized by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient." "Orphanet:231031 MESH:C565041 OMIM:133000 SCTID:763767006 GARD:17157 UMLS:C1851502 MEDGEN:343587" @@ -24029,7 +23853,7 @@ "Quantification of carboxypeptidase M in a sample." "PMID:29875488" "Controlled terms for descriptors for coating of the substrate." - "A macrolide antibiotic used to treat potentially life-threatening fungal infections." "PMID:33846129 Beilstein:4645978 Drug_Central:197 KEGG:D00203 Wikipedia:Amphotericin_B CAS:1397-89-3 MeSH:D000666 LIPID_MAPS_instance:LMPK06000002 Reaxys:4645978 SNOMEDCT:77703004 KEGG:C06573 PMID:15793154 PMID:11930683 PMID:17507115 PMID:11429202 Patent:US2908611 PMID:1732516 NCIt:C238 DrugBank:DB00681 PMID:16793999 PMID:16120633" + "A macrolide antibiotic used to treat potentially life-threatening fungal infections." "PMID:33846129 Drug_Central:197 KEGG:D00203 Wikipedia:Amphotericin_B CAS:1397-89-3 MeSH:D000666 LIPID_MAPS_instance:LMPK06000002 Reaxys:4645978 SNOMEDCT:77703004 KEGG:C06573 PMID:15793154 PMID:11930683 PMID:17507115 PMID:11429202 Patent:US2908611 PMID:1732516 NCIt:C238 DrugBank:DB00681 PMID:16793999 PMID:16120633" "A condition associated with the use of certain medications and characterized by an internal sense of motor restlessness often described as an inability to resist the urge to move." "SCTID:230333002 ICD9:333.99 UMLS:C0162550 MeSH:D017109 DOID:4263 ICD10CM:G25.71 MONDO:0006731 MESH:D017109 MEDGEN:57937 SNOMEDCT:230333002 NCIt:C78163 MedDRA:10001540" "UMLS:C3554367 MEDGEN:767281 Orphanet:412189 GARD:17691 OMIM:615028" "Beilstein:8331263 MeSH:C087876 NCIt:C68370 KEGG:C18727 CAS:120928-09-8 PPDB:292" @@ -24211,7 +24035,6 @@ "A varicose disease that involves the mammalian vulva." "MEDGEN:510083 HP:0100677 ICD9:456.6 icd11.foundation:53329171 ICD10CM:I86.3 UMLS:C0155796 SCTID:48868008" "NANDO:1200047" - "Complete paralysis of the lower half of the body including both legs, often caused by damage to the spinal cord. [database_cross_reference: NCIt:P378]" "DOID:607 UMLS:C0030486 ICD9:344.1 MEDGEN:45323 MedDRA:10033892 NCIT:C50687 MESH:D010264 SCTID:60389000 MONDO:0003757 ICD10:G82 icd11.foundation:1212533558" "Damage inflicted to a blood vessel." "ICD10:S15" "The amount of a clusterin-like protein 1 when measured in blood." "PMID:37794183" "Papillon-Lefèvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." "ICD10:Q82.8 UMLS:C0030360 OMIM:245000 MeSH:D010214 DOID:3389" @@ -24240,7 +24063,7 @@ "Quantification of the amount of endothelial cell-specific molecule 1 in a sample" "PMID:33067605" "A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva." "MedDRA:10068223 GARD:0004192 EFO:1000249 MONDO:0008177 ICDO:8542/3 UMLS:C0030186 ICD10:C44.5 MEDGEN:45280 MedDRA:10033366 GARD:4192 OMIM:167300 icd11.foundation:1796624917 Orphanet:2800 MESH:D010145 ONCOTREE:EMPD NCIT:C3302" "Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability." "DECIPHER:17 MESH:D058495 NANDO:2200953 OMIM:117550 UMLS:C0175695 MedDRA:10064387 DOID:0112103 MEDGEN:61232 DOID:14748 SCTID:75968004 Orphanet:821 OMIMPS:117550 NANDO:1200679 icd11.foundation:1887392960 NCIT:C75019 NORD:1727 GARD:10091" - "A disease involving the pituitary gland. [ MONDO:DesignPattern ]" "MONDO:0003381 ICD9:253.8 ICD9:253.1 ICD9:253.9 MESH:D010900 NCIT:C26854 MEDGEN:45934 UMLS:C0032002 DOID:53 SCTID:399244003 ICD10:E23" + "A disease involving the pituitary gland. [ MONDO:DesignPattern ]" "MONDO:0003381 ICD9:253.8 ICD9:253.9 ICD9:253.1 MESH:D010900 NCIT:C26854 MEDGEN:45934 UMLS:C0032002 DOID:53 SCTID:399244003 ICD10:E23" "Quantification of the amount of X-17353 in a sample." "PMID:35347128" "A carcinoma that arises from glandular epithelial cells of the esophagogastric junction." "DOID:4944 UMLS:C1332166 ONCOTREE:GEJ NCIT:C9296 ONCOTREE:EGC MEDGEN:231030" "The amount of a F-actin-capping protein subunit beta when measured in blood serum." @@ -24259,9 +24082,10 @@ "An anxiety disorder characterized by recurrent, persistent obsessions or compulsions. Obsessions are the intrusive ideas, thoughts, or images that are experienced as senseless or repugnant. Compulsions are repetitive and seemingly purposeful behavior which the individual generally recognizes as senseless and from which the individual does not derive pleasure although it may provide a release from tension." "MONDO:0008114 DOID:10933 UMLS:C0028768 ICD10CM:F42 icd11.foundation:1582741816 SNOMEDCT:191736004 ICD9:300.3 MedDRA:10029898 MedDRA:10030029 NCIT:C88411 MESH:D009771 OMIM:164230 SCTID:191736004 MeSH:D009771 MEDGEN:14445" "A non-polarised cell precursor cell that is part of some mesenchyme, is associated with the cell matrix but is not connected to other cells and is capable of migration." "An autosomal dominant heart condition that causes disruptions in the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular." "MEDGEN:894635 OMIMPS:608583 icd11.foundation:45855978 Orphanet:334 GARD:9740 SCTID:715395008 DOID:0050650 UMLS:C3468561" - "1,4-Dihydro-2H-3,1-benzoxazin-2-one substituted at the 4 position by cyclopropylethynyl and trifluoromethyl groups (S configuration) and at the 6 position by chlorine. A non-nucleoside reverse transcriptase inhibitor with activity against HIV, it is used with other antiretrovirals for combination therapy of HIV infection." "Beilstein:7387333 KEGG:D00896 PDBeChem:EFZ PMID:10576692 LINCS:LSM-5526 HMDB:HMDB0014763 Patent:EP582455 Wikipedia:Efavirenz CAS:154598-52-4 Reaxys:7387333 KEGG:C08088 Drug_Central:989 Patent:US5519021 PMID:10673109 PMID:25017682 DrugBank:DB00625" + "1,4-Dihydro-2H-3,1-benzoxazin-2-one substituted at the 4 position by cyclopropylethynyl and trifluoromethyl groups (S configuration) and at the 6 position by chlorine. A non-nucleoside reverse transcriptase inhibitor with activity against HIV, it is used with other antiretrovirals for combination therapy of HIV infection." "KEGG:D00896 PDBeChem:EFZ PMID:10576692 LINCS:LSM-5526 HMDB:HMDB0014763 Patent:EP582455 Wikipedia:Efavirenz CAS:154598-52-4 Reaxys:7387333 KEGG:C08088 Drug_Central:989 Patent:US5519021 PMID:10673109 PMID:25017682 DrugBank:DB00625" "A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner." "UMLS:C1848578 SCTID:80887004 Orphanet:79284 GARD:3584 MEDGEN:336373 MESH:C564747 OMIM:277380 DOID:0050717 NANDO:2201110" "A water bath is a temperature control bath in which a water acts as contact medium enabling temperature transfer from the heating element or cooling element to the sample. The temperature can be controlled in the 0 to 100 degree centigrade range (under normal pressure)." "NCIt:C112508 MO:541" + "A water bath is a temperature control bath in which a water acts as contact medium enabling temperature transfer from the heating element or cooling element to the sample. The temperature can be controlled in the 0 to 100 degree centigrade range (under normal pressure)."@en "NCIt:C112508 MO:541" "MEDGEN:1794246 OMIM:619647 UMLS:C5562036" "OMIM:109200 UMLS:C4049090 MEDGEN:886756" @@ -24297,7 +24121,6 @@ "Monogenic diabetes caused by inactivating mutation(s) in the PDX1 gene, encoding pancreas/duodenum homeobox protein 1. Homozygous PDX1 mutations result in permanent neonatal diabetes." "MEDGEN:318863 GARD:10659 NANDO:2201072 OMIM:606392 MESH:C563451 SCTID:609571007 UMLS:C1833382 DOID:0111103 NCIT:C129746" "A benign smooth muscle neoplasm arising from the lower part of the esophagus. It is the most common mesenchymal neoplasm of the esophagus. Dysphagia is a frequent clinical symptom." "MEDGEN:65947 NCIT:C3866 SCTID:276805005 UMLS:C0238114 DOID:960" "A repetitive and persistent pattern of behavior in which the basic rights of others or major age-appropriate societal norms or rules are violated. These behaviors include aggressive conduct that causes or threatens physical harm to other people or animals, nonaggressive conduct that causes property loss or damage, deceitfulness or theft, and serious violations of rules. The onset is before age 18. (From DSM-IV, 1994)." "UMLS:C0149654 NCIT:C89329 MedDRA:10064478 MESH:D019955 SCTID:430909002 MONDO:0005352 NCIt:C89329 MeSH:D019955 DOID:12995 MEDGEN:56196 ICD9:312.9 SNOMEDCT:430909002 ICD9:312.89 ICD10:F91" - "Determination of the grade (severity/stage) of a tumor sample, used in cancer biology to describe abnormalities/qualities of tumor cells or tissues. Values can be described by terms from NCI Thesaurus." "Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group include otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects." "DOID:0111782 MEDGEN:411701 UMLS:C2748918 GARD:21570 Orphanet:364541" "Congenital smooth muscle hamartoma (CSMH) is a rare cutaneous hamartomatous lesion most often located on the lumbosacral area or proximal limbs (but rarely on atypical areas such as scalp, eyelid or foot) and characterized by a disorganized proliferation of smooth muscle fibers of arrector pili presenting usually as a localized skin-colored or hyperpigmented plaque (up to 10 cm in diameter) with prominent vellus hairs (most common classic form) or less commonly by multiple skin-colored papules that can coalesce to form irregularly shaped plaques. With time, hyperpigmentation and vellus hairs usually diminish and neither malignant transformation nor associated systemic involvement has been reported." "Orphanet:263435 GARD:20902 ICD9:759.6 UMLS:C0406819 MEDGEN:590701 SCTID:239144007" @@ -24369,9 +24192,7 @@ "Quantification of pseudokinase FAM20A in a sample." "PMID:29875488" "Quantification of mannosyl-oligosaccharide 1,2-alpha-mannosidase IB in a sample." "PMID:29875488" - "Is a quantification of neutrophils in blood." "SNOMEDCT:30630007 NCIt:C51950 CMO:0000030 MedDRA:10029363" - "Hearing loss due to disease of the AUDITORY PATHWAYS (in the CENTRAL NERVOUS SYSTEM) which originate in the COCHLEAR NUCLEI of the PONS and then ascend bilaterally to the MIDBRAIN, the THALAMUS, and then the AUDITORY CORTEX in the TEMPORAL LOBE. Bilateral lesions of the auditory pathways are usually required to cause central hearing loss. Cortical deafness refers to loss of hearing due to bilateral auditory cortex lesions. Unilateral BRAIN STEM lesions involving the cochlear nuclei may result in unilateral hearing loss." "MeSH:D006313 MedDRA:10040018 HP:0000407 NCIT:C26739 MONDO:0020678 NCIt:C26739 ICD10:H90 ICD9:389.1 DOID:10003 MedDRA:10040015 MedDRA:10040016 UMLS:C0018784 SCTID:60700002 MEDGEN:9164 SNOMEDCT:60700002" "CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" "Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients." "GARD:7383 NANDO:1200785 MEDGEN:19244 OMIM:261600 NANDO:2200467 DOID:9281 SCTID:7573000 NORD:1574 MedDRA:10034872 NCIT:C81315 NANDO:1200784 Orphanet:716 MESH:D010661 icd11.foundation:444122923 UMLS:C0031485 ICD9:270.1 NANDO:2201075" @@ -24466,7 +24287,6 @@ "The amount of a E3 ubiquitin-protein ligase RNF4 when measured in blood." "PMID:37794183" "The amount of a syndecan-4 when measured in blood." "PMID:37794183" - "An area unit is a derived unit which is a standard measure of the amount of a 2-dimensional flat surface." "The determination of the amount of tyrosine-protein kinase TEC in a sample" "PMID:28240269" "A mature NK cell that is NK1.1-positive." @@ -24544,7 +24364,7 @@ "The amount of a Ras-related protein Rab-10 when measured in blood." "PMID:37794183" "The amount of a lipocalin-15 when measured in blood." "PMID:37794183" "Quantification of the amount of lactosyl-N-nervonoyl-sphingosine (d18:1/24:1) in a sample." "PMID:35347128" - "A thiocarboxamide consiting of acetamide having the oxygen replaced by sulfur." "PMID:21733084 Wikipedia:Thioacetamide CAS:62-55-5 PMID:20138653 PMID:21182490 PMID:21749370 PMID:20931291 PMID:21489598 Reaxys:506006 Beilstein:506006 PMID:20534638 PMID:21699073 PMID:21455425 PMID:21733883 KEGG:C19302 PMID:21647311" + "A thiocarboxamide consiting of acetamide having the oxygen replaced by sulfur." "PMID:21733084 Wikipedia:Thioacetamide CAS:62-55-5 PMID:20138653 PMID:21182490 PMID:21749370 PMID:20931291 PMID:21489598 Reaxys:506006 PMID:20534638 PMID:21699073 PMID:21455425 PMID:21733883 KEGG:C19302 PMID:21647311" "Dermatitis herpetiformis in children" "MEDGEN:508884 ICD9:694.2 MONDO:0006565 UMLS:C0152092 DOID:8507 MedDRA:10023252 SCTID:5906000" @@ -24595,6 +24415,7 @@ "Urachal cancer is a type of bladder cancer, making up less than 1% of all bladder cancers. The urachus is a structure normally only present during development in the womb that connects the bellybutton and the bladder. This connection normally disappears before birth, but in some people remains. Urachalcancers are usually diagnosed in adults in their 50's and 60's and may develop at the dome or anterior wall of the bladder, along the midline of the body (including the belly button), and between the pubis symphasis and the bladder.Most urachal cancersare adenocarcinomas (cancers that develop from gland cells).Others may besarcomas (which develop from connective tissue -such as leiomyosarcoma, rhabdomyosarcoma, and malignant fibrous histiocytoma), small cell carcinomas, transitional cell cancer, and mixed neoplasias. Most individuals with urachal cancer have symptoms of with hematuria (blood in urine). Other symptoms may include abdominal pain, a palpable abdominal mass, mucinuria, and bacteriuria. Treatment usually involved surgery to remove the cancer." "MESH:C536475 NCIT:C39842 UMLS:C2931202 MEDGEN:419015 DOID:5958 ONCOTREE:URCA" "Quantification of the amount of X-07765 in a sample." "PMID:24816252" + "OBSOLETE. The chemical reactions and pathways by which individual cells transform chemical substances." "CLO:0007403 CLO:0007393 RRID:CVCL_1384 BTO:0001553" "The determination of the amount of cadherin-12 in a sample" "PMID:28240269" "Transudate contained in the lumen of lymphatic vessel." "MAT:0000055 MA:0002520 FMA:9671 EV:0100049 BTO:0000855" @@ -24666,7 +24487,6 @@ "BTO:0000732 RRID:CVCL_0379 CLO:0007125 CLO:0007124" "The amount of a integrin alpha-6 when measured in blood serum." - "A concentration unit is a dervied unit which represents a standard measurement of how much of a given substance there is mixed with another substance." "MO:86 MO:61" "Autosomal recessive form of complex hereditary spastic paraplegia." "UMLS:CN228909 Orphanet:100981" "Is a quantification of aspartate aminotransferase, and is commonly used as a marker for liver function." "NCIt:C64467 SNOMEDCT:45896001" "The amount of a sodium channel subunit beta-4 when measured in blood serum." @@ -24967,8 +24787,7 @@ "An uncommon, highly aggressive malignant tumor, arising from the peripheral nerves and affecting mostly adults in their third to sixth decades of life. It usually occurs in medium-sized and large nerves of the buttock, thigh, upper arm, or the paraspinal region. It may be associated with neurofibromatosis 1 (NF1)." "SNOMEDCT:19897006 NCIt:C3798 DOID:5940 MeSH:D018317 SNOMEDCT:404037002" "The amount of a envoplakin when measured in blood serum." - "A pentahydroxyflavone having the five hydroxy groups placed at the 3-, 3'-, 4'-, 5- and 7-positions. It is one of the most abundant flavonoids in edible vegetables, fruit and wine." "PMID:27704720 CAS:117-39-5 PMID:27565033 PMID:18484521 PMID:18564899 FooDB:FDB011904 PMID:19461927 PMID:17015250 Drug_Central:3514 Patent:US2013012577 PMID:23359794 PMID:16226777 Gmelin:579210 HMDB:HMDB0005794 DrugBank:DB04216 PMID:18549926 PMID:18096136 MetaCyc:CPD-520 PMID:18785622 PMID:18579649 Reaxys:317313 LINCS:LSM-4199 PMID:17135030 PMID:23342112 PMID:19043800 Wikipedia:Quercetin LIPID_MAPS_instance:LMPK12110004 KNApSAcK:C00004631 PMID:27591927 PDBeChem:QUE Patent:KR20120121684 PMID:27589790 PMID:22920589 KEGG:C00389 PMID:17426744 Beilstein:317313" - "An adverse drug interaction characterized by altered mental status, autonomic dysfunction, and neuromuscular abnormalities. It is most frequently caused by use of both serotonin reuptake inhibitors and monoamine oxidase inhibitors, leading to excess serotonin availability in the CNS at the serotonin 1A receptor." "UMLS:C0699828 SNOMEDCT:371089000 SCTID:371089000 MONDO:0018546 Orphanet:43116 MeSH:D020230 GARD:18828 ORDO:Orphanet_43116 MEDGEN:152119 icd11.foundation:678764364 ICD9:333.99 MedDRA:10040108 MESH:D020230" + "A pentahydroxyflavone having the five hydroxy groups placed at the 3-, 3'-, 4'-, 5- and 7-positions. It is one of the most abundant flavonoids in edible vegetables, fruit and wine." "PMID:27704720 CAS:117-39-5 PMID:27565033 PMID:18484521 PMID:18564899 FooDB:FDB011904 PMID:19461927 PMID:17015250 Drug_Central:3514 Patent:US2013012577 PMID:23359794 PMID:16226777 Gmelin:579210 HMDB:HMDB0005794 DrugBank:DB04216 PMID:18549926 PMID:18096136 MetaCyc:CPD-520 PMID:18785622 PMID:18579649 Reaxys:317313 LINCS:LSM-4199 PMID:17135030 PMID:23342112 PMID:19043800 Wikipedia:Quercetin LIPID_MAPS_instance:LMPK12110004 KNApSAcK:C00004631 PMID:27591927 PDBeChem:QUE Patent:KR20120121684 PMID:27589790 PMID:22920589 KEGG:C00389 PMID:17426744" "Marmoset monkey lymphocytes, established from peripheral blood lymphocytes of a marmoset monkey (saguinus oedipus); cells were described to release high titers of Epstein-Barr virus (EBV) providing a source for transformation of B cells and establishment of continuous cell lines; this cell line has been assigned by the ZKBS (German Central Commission for Biological Safety) to risk group 2." " CLO:0001838 RRID:CVCL_1953 BTO:0000107 CLO:0001776" "OMIM:605637 UMLS:C1854106 MESH:C565311 DOID:0080719 MEDGEN:381340" @@ -25008,7 +24827,7 @@ "Any deoxygalactose that is deoxygenated at the 6-position." "CAS:7724-73-4 KEGG:C00382 PMID:12651883" "The determination of the amount of hemoglobin S present in a sample. [ NCI ]" "NCIt:C122123" "The dermis is a layer of skin between the epidermis (with which it makes up the skin) and subcutaneous tissues, and is composed of two layers, the papillary and reticular dermis[WP]." "MESH:D020405 EV:0100154 ZFA:0001119 TAO:0001119 UMLS:C0011646 SCTID:361696001 MA:0000152 BTO:0000294 EFO:0000953 GAID:1321 AAO:0000128 MIAA:0000153 FMA:70323 CALOHA:TS-2076 NCIT:C12701 Wikipedia:Dermis VHOG:0000108 EMAPA:17527 MAT:0000153 XAO:0000217" - "A complex glycopeptide from Streptomyces orientalis. It inhibits a specific step in the synthesis of the peptidoglycan layer in the Gram-positive bacteria Staphylococcus aureus and Clostridium difficile." "PMID:11980329 PMID:18983037 PMID:14605050 PMID:17184835 PMID:11688538 MetaCyc:CPD-12245 DrugBank:DB00512 PMID:12852813 PMID:21719238 PMID:15792257 PMID:16420976 Patent:US3067099 PMID:22015328 Wikipedia:Vancomycin SNOMEDCT:42082003 PMID:13521912 PMID:21458937 PMID:21466775 PMID:16183423 CAS:1404-90-6 PMID:17594206 PMID:21951032 PMID:17299012 PMID:15081082 PMID:21664803 PMID:11028184 PMID:22027450 KNApSAcK:C00016052 PMID:15590714 PMID:18030187 KEGG:D00212 Reaxys:3132 PMID:18817166 PMID:15047516 NCIt:C925 PMID:11864951 PDBeChem:VAN PMID:18159039 MeSH:D014640 PMID:20956604 PMID:12541895 PMID:13370625 Drug_Central:2807 PMID:11408222 PMID:12019070 PMID:21109901 PMID:18162343 PMID:18361944 PMID:14702667 KEGG:C06689 PMID:19830166 PMID:18582342 PMID:22011388 PMID:11886013 SNOMEDCT:372735009 PMID:18260149 PMID:15465645 PMID:18462092 PMID:19107100 PMID:22124537 PMID:16596002 PMID:16184232 PMID:17027219 PMID:16720708 Beilstein:3132" + "A complex glycopeptide from Streptomyces orientalis. It inhibits a specific step in the synthesis of the peptidoglycan layer in the Gram-positive bacteria Staphylococcus aureus and Clostridium difficile." "PMID:11980329 PMID:18983037 PMID:14605050 PMID:17184835 PMID:11688538 MetaCyc:CPD-12245 DrugBank:DB00512 PMID:12852813 PMID:21719238 PMID:15792257 PMID:16420976 Patent:US3067099 PMID:22015328 Wikipedia:Vancomycin SNOMEDCT:42082003 PMID:13521912 PMID:21458937 PMID:21466775 PMID:16183423 CAS:1404-90-6 PMID:17594206 PMID:21951032 PMID:17299012 PMID:15081082 PMID:21664803 PMID:11028184 PMID:22027450 KNApSAcK:C00016052 PMID:15590714 PMID:18030187 KEGG:D00212 Reaxys:3132 PMID:18817166 PMID:15047516 NCIt:C925 PMID:11864951 PDBeChem:VAN PMID:18159039 MeSH:D014640 PMID:20956604 PMID:12541895 PMID:13370625 Drug_Central:2807 PMID:11408222 PMID:12019070 PMID:21109901 PMID:18162343 PMID:18361944 PMID:14702667 KEGG:C06689 PMID:19830166 PMID:18582342 PMID:22011388 PMID:11886013 SNOMEDCT:372735009 PMID:18260149 PMID:15465645 PMID:18462092 PMID:19107100 PMID:22124537 PMID:16596002 PMID:16184232 PMID:17027219 PMID:16720708" "The determination of the amount of free hemoglobin present in a sample. [ NCI ]" "NCIt:C127617" "quantification of some aspect of the seasonal variation in the micrbiome of the gut" "A neurodevelopmental disorder characterized by impaired intellectual development, poor speech, postnatal macrocephaly, and seizures." "OMIM:618158" @@ -25128,7 +24947,7 @@ "An X-linked intellectual deficiency in which not enough information is known, reported or published to indicate whether a gene causes non-syndromic or syndromic presentations." "MEDGEN:211749 UMLS:C1136249" "The amount of a junctional adhesion molecule A when measured in blood." "PMID:38565889" - "RRID:CVCL_0359 BTO:0001671 CLO:0007006" + "BTO:0001671 RRID:CVCL_0359 CLO:0007006" "Quantification of the amount of L-Asparagine anhydrous in a sample." "PMID:33634981" "The amount of a caspase recruitment domain-containing protein 18 when measured in blood serum." @@ -25145,7 +24964,7 @@ "ZFS:0000016" - "A C4-dicarboxylate that is the Z-isomer of but-2-enedioate(2-)" "Reaxys:3588415 Beilstein:3588415 Gmelin:49853" + "A C4-dicarboxylate that is the Z-isomer of but-2-enedioate(2-)" "Reaxys:3588415 Gmelin:49853" "The amount of a BTB/POZ domain-containing protein KCTD1 when measured in blood serum." "Quantification of pain that develops after a surgical procedure, and is present for at least 3 months after the procedure." "Quantification of the amount of glycodeoxycholate 3-O-glucuronide in a sample." "PMID:32961594" @@ -25171,7 +24990,6 @@ "a planned process by which totally or partially complementary, single-stranded nucleic acids are combined into a single molecule called heteroduplex or homoduplex to an extent depending on the amount of complementarity."@en "SNOMEDCT:51864006 MeSH:D009693 NCIt:C16924" "Quantification of enhancer of rudimentary homolog in a sample." "PMID:29875488" - "A renal infectious disease and is_a Human immunodeficiency virus infectious disease that results_in infection located_in kidney, has_material_basis_in has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom nephrotic-range proteinuria (>3.5 g/d), has_symptom azotemia, has_symptom hypoalbuminemia, and has_symptom hyperlipidemia." "MEDGEN:37145 MeSH:D016263 NCIT:C26918 MESH:D016263 MONDO:0005798 DOID:1311 UMLS:C0078911" "A chronic granulomatous infection caused by MYCOBACTERIUM LEPRAE. The granulomatous lesions are manifested in the skin, the mucous membranes, and the peripheral nerves. Two polar or principal types are lepromatous and tuberculoid." "MESH:D007918 DOID:1024 MONDO:0005124 ICD9:030.9 ICD10CM:A30 MedDRA:10024229 SCTID:81004002 NCIT:C84824 ICD9:030.8 SNOMEDCT:81004002 MEDGEN:6049 GARD:6886 UMLS:C0023343 MedDRA:10024232 ICD9:030 NCIt:C84824 NORD:1362 Orphanet:548 icd11.foundation:149072669 MeSH:D007918" @@ -25234,7 +25052,7 @@ "An extremely rare malignant neoplasm that arises from the fallopian tube and is characterized by the presence of a benign epithelial component and a sarcomatous component." "MEDGEN:275872 UMLS:C1517121 DOID:1973 NCIT:C40125" "The age at which depressive disorder manifestations first appear." "The determination of the amount of amp kinase (alpha1beta1gamma1) in a sample" "PMID:28240269" - "A polymer composed of PEG-ylated sorbitan, where the total number of poly(ethylene glycol) units is 20 (w + x + y + z = 20) and a single terminal is capped by a dodecanoyl group." "KEGG:C11624 SNOMEDCT:412166009 Reaxys:8187252 NCIt:C80937 KEGG:D05565 Reaxys:8973037 Wikipedia:Polysorbate_20 CAS:9005-64-5 SNOMEDCT:412167000 Beilstein:8973037" + "A polymer composed of PEG-ylated sorbitan, where the total number of poly(ethylene glycol) units is 20 (w + x + y + z = 20) and a single terminal is capped by a dodecanoyl group." "KEGG:C11624 SNOMEDCT:412166009 Reaxys:8187252 NCIt:C80937 KEGG:D05565 Reaxys:8973037 Wikipedia:Polysorbate_20 CAS:9005-64-5 SNOMEDCT:412167000" "A rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings." "MESH:C535783 MEDGEN:357120 GARD:10101 OMIM:183849 Orphanet:168443 UMLS:C1866728" "Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group and is characterized by early-onset recurrent fever, swollen violaceous eyelids, progressive lipodystrophy, arthralgia, purpuric skin lesions and delayed physical development." "MedDRA:10073960 MedDRA:10073961 OMIM:256040" @@ -25373,7 +25191,6 @@ "A Herpesviridae infectious disease that results_in infection in children, has_material_basis_in Human herpesvirus 6 and has_material_basis_in Human herpesvirus 7." "MeSH:D019349 UMLS:C0376549 MONDO:0005949 DOID:5120 MEDGEN:83999 MESH:D019349" "Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss." "MEDGEN:318937 Orphanet:2791 UMLS:C1833693 SCTID:707310009 OMIM:166750 GARD:4168" - "A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs." "MeSH:D000562 MEDGEN:1857 UMLS:C0002438 ICD9:006 ICD10:A06 MedDRA:10001916 NCIT:C84551 MedDRA:10001918 MESH:D000562 MONDO:0005644 ICD9:006.9 DOID:9181" "A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes." "UMLS:C1868773 MEDGEN:1806599 DOID:0050850" "An autosomal recessive condition caused by mutation(s) in the CNTNAP2 gene, encoding contactin-associated protein-like 2. It is characterized by normal development until the onset of intractable focal seizures at age 1-9. After the onset of seizures, language regression, intellectual disability, hyperactivity, and impulsive behaviors begin to occur. The majority of children eventually fulfill the criteria for autism spectrum disorder." "MESH:C567657 DOID:0090130 GARD:16997 UMLS:C2750246 Orphanet:163681 MEDGEN:413258 NCIT:C133743 OMIM:610042" @@ -25397,7 +25214,6 @@ "A temperature derived unit which is equal to one Kelvin degree. However, they have their zeros at different points. The Centigrade scale has its zero at 273.15 K." "NCIt:C42559 MO:980 SNOMEDCT:420453007 SNOMEDCT:257962003 SNOMEDCT:257984003" "Abnormal movements, including HYPERKINESIS; HYPOKINESIA; TREMOR; and DYSTONIA, associated with the use of certain medications or drugs. Muscles of the face, trunk, neck, and extremities are most commonly affected. Tardive dyskinesia refers to abnormal hyperkinetic movements of the muscles of the face, tongue, and neck associated with the use of neuroleptic agents (see ANTIPSYCHOTIC AGENTS). (Adams et al., Principles of Neurology, 6th ed, p1199)" "MeSH:D004409 DOID:4478 MedDRA:10013916 MESH:D004409 SCTID:102449007 MedDRA:10043118 ICD9:333.99 MEDGEN:3935 MONDO:0006732 UMLS:C0013386 SNOMEDCT:102448004 SCTID:102448004" - "An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452)" "OMIM:117000 MONDO:0007294 NCIT:C83010 MEDGEN:199773 NANDO:1200479 NANDO:2200870 DOID:3529 UMLS:C0751951 Orphanet:597 GARD:6014 MeSH:D020512 SCTID:43152001 icd11.foundation:2065822840 MESH:D020512" "A spatial transcriptomics by high-throughput sequencing assay which enables spatial analysis of RNA and protein in tissue specimens on slides." @@ -25462,7 +25278,6 @@ "Quantification of pirin in a sample." "PMID:29875488" "human colon carcinoma cell line establlished from human colorectal tumor explants (Sigma catalog number 99011801)" "A condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause." "OMIM:215100 Orphanet:309789 UMLS:C1859133 NANDO:1200763 icd11.foundation:44503513 DOID:0110851 GARD:6049 MEDGEN:347072" - "Abnormal growth located in the breast or mammory gland." "MONDO:0021100 MEDGEN:264172 UMLS:C1458155 NCIt:C2910 MeSH:D001943 ICD10:D24 NCIT:C2910 OMIM:114480 ONCOTREE:BREAST MESH:D001943 MedDRA:10006279 ICD9:239.3 ICD10:C50 HP:0100013 SCTID:126926005" "Conditions of abnormal THYROID HORMONES release in patients with apparently normal THYROID GLAND during severe systemic illness, physical TRAUMA, and psychiatric disturbances. It can be caused by the loss of endogenous hypothalamic input or by exogenous drug effects. The most common abnormality results in low T3 THYROID HORMONE with progressive decrease in THYROXINE; (T4) and TSH. Elevated T4 with normal T3 may be seen in diseases in which THYROXINE-BINDING GLOBULIN synthesis and release are increased." "MedDRA:10015549 NCIT:C113170 MeSH:D005067 SCTID:237542005 ICD10CM:E07.81 NCIt:C113170 MESH:D005067 MEDGEN:41908 MONDO:0006755 UMLS:C0015190 ICD9:790.94 DOID:2856" "Inflammation of the liver related to lipid accumulation in fatty liver." "SNOMEDCT:442191002 SNOMEDCT:197321007 MeSH:D005234 OMIM:228100" "The amount of a ubiquitin-conjugating enzyme E2 C when measured in blood serum." @@ -25480,7 +25295,6 @@ "The amount of a actin-related protein 2/3 complex subunit 5 when measured in blood serum." "The amount of a interleukin-12 subunit alpha when measured in blood serum." - "Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents." "NCIT:C79598 DOID:9471 UMLS:C0729584 MEDGEN:152668 HP:0001287 SNOMEDCT:7180009 ICD10:G03 ICD9:322 MONDO:0004796 ICD9:322.9 MeSH:D008581 ICD9:321.8 NCIt:C79598 SNOMEDCT:25822001 SCTID:312216007 MedDRA:10053638" "Quantification of beta-defensin 123 in a sample." "PMID:29875488" "Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly." "MESH:C535798 Orphanet:93317 GARD:4993 UMLS:C1855229 OMIM:250220 DOID:0112298 MEDGEN:340816 icd11.foundation:975738106" "DOID:0080483 MEDGEN:766873 OMIM:614876 GARD:15869 UMLS:C3553959" @@ -25540,7 +25354,6 @@ "A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from two germinal layers of tissue." "MeSH:D018198 DOID:154" "The amount of a disabled homolog 2 when measured in blood serum." "A myeloblast committed to the basophil lineage." - "A lung disease that is a mycosis caused by fungal growth in the lungs." "MONDO:0005766 MEDGEN:6144 MESH:D008172 UMLS:C0024116 MeSH:D008172 DOID:11341" "Orphanet:156156" "Epithelial cell found in the ducts of the pancreas. This cell type contributes to the high luminal pH." "ZFA:0009380 FMA:63099 PMID:14740223 GOC:tfm" @@ -25610,6 +25423,7 @@ "quantification of the amount of estrone conjugates, such as sulphate and glucuronide conjugates, in a sample" "Human melanoma cell line (DSMZ catalog number ACC257)" "A device which is used to maintain constant contact of a liquid on an array. This can be either a glass vial or slide." "MO:563" + "A device which is used to maintain constant contact of a liquid on an array. This can be either a glass vial or slide."@en "MO:563" "A division of the perianth of a flower having a virtually indistinguishable calyx and corolla, as in tulips and lilies." "PO:0009033 BTO:0001728 MAT:0000356" "Quantification of the ratio of 3-Indolepropionic acid to D-2-Aminobutyric acid ratio in a sample." "PMID:33634981" "A rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoskoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma." "GARD:17219 MEDGEN:1830421 UMLS:C5779872 Orphanet:254519 DOID:0111712" @@ -25661,10 +25475,9 @@ "Genome architecture mapping (GAM) is an assay designed to analyze 3D chromatin structure without relying on digestion and ligation. The procedure involves cryosectioning samples in random orientation, and then single nuclear profiles are isolated by laser microdissection. Each nuclear profile then undergoes high-throughput sequencing, and subsequent analysis can generate a matrix of inferred proximity between genomic regions." "SNOMEDCT:420364006 MeSH:D041081" "Quantification of arachidic acid in blood plasma." "KEGG COMPOUND:C06425 HMDB:0002212" - "A benign or malignant neoplasm that arises from the salivary glands. It is characterized by the presence of epithelial and mesenchymal elements. This category includes pleomorphic adenoma, carcinoma ex pleomorphic adenoma, and carcinosarcoma." "UMLS:C0036095 MEDGEN:20641 MONDO:0021357 NCIT:C3361 SCTID:235132004 NCIt:C35691" "Orphanet:156224" "The volume of air that is exhaled by a maximal expiration following a maximal inspiration." "NCIt:C111361 MedDRA:10047579 MeSH:D014797 SNOMEDCT:268379003" - "reverse transcribe pcr is a process which allow amplification of cDNA during a pcr reaction while the cDNA results from a retrotranscription of messenger RNA isolated from a material entity." + "reverse transcribe pcr is a process which allow amplification of cDNA during a pcr reaction while the cDNA results from a retrotranscription of messenger RNA isolated from a material entity."@en "The amount of a keratin, type I cytoskeletal 14 when measured in blood serum." "Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state." "UMLS:C0085584 SNOMEDCT_US:81308009" "A stem cell of embryonic origin." "NCIt:C12935 MESH:D053595 CALOHA:TS-0263 SNOMEDCT:419965008 BTO:0001086 FMA:82841" @@ -25720,7 +25533,7 @@ "Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children." "SCTID:360455002 MESH:D058456 MedDRA:10015901 Orphanet:190 OMIM:300216 UMLS:C0154832 DOID:7765 GARD:6121 NORD:981 icd11.foundation:2032707885 MEDGEN:102319 ICD9:362.12" "A 1-O-(alk-1-enyl)-2-O-acyl-sn-glycero-3-phosphocholine in which the alk-1-enyl and acyl groups are specified as (1Z)-hexadecenyl and arachidonoyl respectively." "HMDB:HMDB0011220 PMID:15908428 LIPID_MAPS_instance:LMGP01030010" "A viral respiratory infection that is caused by the MERS coronavirus (MERS-CoV), which most often manifests with moderate to severe respiratory symptoms, including productive cough and shortness of breath, which can progress to pneumonia and acute respiratory distress syndrome." "NCIT:C128424 MEDGEN:811327 Orphanet:576074 icd11.foundation:1840423014 UMLS:C3694279 GARD:22321 DOID:0080642" - "A monocarboxylic acid that is phenylacetic acid in which the hydrogen at position 3 on the benzene ring is replaced by a hydroxy group." "KEGG:C05593 PMID:23319439 Patent:US5639643 HMDB:HMDB0000440 Beilstein:2086506 PMID:7264927 PMID:5350345 PMID:19083460 CAS:621-37-4 MetaCyc:3-HYDROXYPHENYLACETATE PDBeChem:3HP PMID:20579527 PMID:22919580 Reaxys:2086506 PMID:24287915" + "A monocarboxylic acid that is phenylacetic acid in which the hydrogen at position 3 on the benzene ring is replaced by a hydroxy group." "KEGG:C05593 PMID:23319439 Patent:US5639643 HMDB:HMDB0000440 PMID:7264927 PMID:5350345 PMID:19083460 CAS:621-37-4 MetaCyc:3-HYDROXYPHENYLACETATE PDBeChem:3HP PMID:20579527 PMID:22919580 Reaxys:2086506 PMID:24287915" "Any acute myeloid leukemia that has the chromosomal anomaly biallelic CEBPA gene mutation. (The presence of mutations in both alleles of the CEBPA gene.)" "DOID:0081090" "Is a quantification of some tocopherol, typically in blood. Some tocopherols have Vitamin E function (note that tocotrienols also have vitamin E function)." "fasting insulin measurement that has been adjusted for subjects' body mass index" @@ -25823,7 +25636,7 @@ "X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males." "MEDGEN:335168 OMIM:300489 UMLS:C1845359 SCTID:766764008 Orphanet:139557 MESH:C564506 DOID:0111196 GARD:16957" - "An optically active form of cysteine having L-configuration." "Reaxys:1721408 Beilstein:1721408 PDBeChem:CYS PMID:22735334 Wikipedia:Cysteine CAS:52-90-4 KNApSAcK:C00001351 HMDB:HMDB0000574 DrugBank:DB00151 KEGG:C00097 PMID:13761469 MetaCyc:CYS Gmelin:49991 KEGG:D00026 PMID:11732994 Drug_Central:769 ECMDB:ECMDB00574 YMDB:YMDB00046" + "An optically active form of cysteine having L-configuration." "Reaxys:1721408 PDBeChem:CYS PMID:22735334 Wikipedia:Cysteine CAS:52-90-4 KNApSAcK:C00001351 HMDB:HMDB0000574 DrugBank:DB00151 KEGG:C00097 PMID:13761469 MetaCyc:CYS Gmelin:49991 KEGG:D00026 PMID:11732994 Drug_Central:769 ECMDB:ECMDB00574 YMDB:YMDB00046" "A fold of peritoneum originating at the stomach and supporting the viscera." "UMLS:C0028977 EV:0100084 CALOHA:TS-2004 FMA:14650 SCTID:362710002 MESH:D009852 NCIT:C33209 galen:Omentum GAID:23" "The amount of a reticulocalbin-3 when measured in blood serum." "The quantification of lysophosphatidylcholine 20:3 levels in a sample." "PMID:23823483" @@ -25833,7 +25646,6 @@ "An activity that produces an effect, or that is intended to alter the course of a disease in a patient or population. This is a general term that encompasses the medical, social, behavioral, and environmental acts that can have preventive, therapeutic, or palliative effects." "NCIt:C25218 SNOMEDCT:50731006 ICD10:Z41 NCIt:C79751" "A drug used to treat or prevent skin disorders or for the routine care of skin." - "A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals." "SCTID:27052006 MEDGEN:6186 ICD9:084.1 NCIT:C34800 MeSH:D016780 MESH:D016780 DOID:12978 ICD10:B51 MONDO:0005921 ICD10CM:B51 UMLS:C0024537" "A cervical adenocarcinoma characterized by the presence of a prominent villoglandular pattern." "MEDGEN:927340 DOID:8338 EFO:1000170 MONDO:0006141 NCIT:C40208 UMLS:C4289808 ONCOTREE:VGCE" "Quantification of the amount of 1-linoleoyl-GPG (18:2) in a sample." "PMID:35347128" @@ -25888,7 +25700,6 @@ "A descriptive term reflecting increased gyral folding in the frontoparietal regions as determined by magnetic resonance imaging. It has subsequently been shown to represent a cobblestone malformation on histopathology. BFPP typically presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non-progressive cerebellar ataxia, deconjugate gaze, and/or strabismus." "MEDGEN:376107 UMLS:C1847352 OMIM:606854 NCIT:C148367 DOID:0080922 GARD:10784 Orphanet:101070 MESH:C564652 icd11.foundation:1119484699" "quantification of some aspect of mosquito bites" "PMID:28199695" "Knee osteoarthritis is a degenerative disease of the knee joint" "MEDGEN:98371 MESH:D020370 MONDO:0005416 ICD10:M17 UMLS:C0409959 MeSH:D020370" - "Pathological processes of the vestibular labyrinth which contains part of the balancing apparatus. Patients with vestibular diseases show instability and are at risk of frequent falls. [database_cross_reference: MeSH:D015837]" "MESH:D015837 ICD10:H81 UMLS:C0042594 MONDO:0002643 DOID:3426 MeSH:D015837 MEDGEN:12079" "The absence of menses in a female individual who has achieved reproductive age." "http://purl.obolibrary.org/obo/NCIT_C61443 PMID:25867717 MedDRA:10001927" "MESH:C566624 UMLS:C3554004 MEDGEN:766918 DOID:0080487 OMIM:614887 GARD:15877" @@ -25942,7 +25753,6 @@ "The amount of a aldo-keto reductase family 1 member D1 when measured in blood serum." "SNOMEDCT:258787002" "a skin disease marked by small and itchy rashes. Miliariais a common ailment in hot and humid conditions, such as in the tropics and during the summer season." "Wikipedia:Miliaria MONDO:0006580 MEDGEN:44443 MESH:D008883 icd11.foundation:204420062 UMLS:C0026113 MedDRA:10036667 DOID:1382 NCIT:C34820 SCTID:63951004 MedDRA:10027627" - "Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base." "SNOMEDCT:41329004 MEDGEN:19397 MedDRA:10061529 NCIT:C3340 SCTID:441456002 MeSH:D011127 ICD10CM:N84 SNOMEDCT:441456002 MONDO:0005079 MESH:D011127 NCIt:C3340 UMLS:C0032584" "Infection of ruminants with tapeworms of the genus Moniezia." "UMLS:C0026414 MeSH:D008989 DOID:931 MESH:D008989 MONDO:0004755 MEDGEN:6424" "Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cb1J) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms)." "ICD10:E72.1 UMLS:C1848561 MeSH:C537359 OMIM:277400 OMIM:614857 OMIM:277410 OMIM:277380" "A pair of salivary glands is present in the thorax, just above the forelegs and flanking the oesophagus. In both sexes of most species each gland normally consists of three lobes, two lateral and one median." "TADS:0000119 TGMA:0001804 MAT:0000079 EHDAA:7987 MA:0000346 FBbt:00005382 EMAPA:17751 BTO:0001203 SAEL:92 FMA:9597" @@ -26148,7 +25958,7 @@ "Human cell line from tissue infected with Epstein-Barr virus, resembling a lymphoblast" "PMID:3017841 BTO:0000773" "A natural killer cell subset that is found in the decidual of the uterus and is CD56-high, Galectin-1-positive and CD16-negative. This cell type represents the most abundant immune cell type in the decidual during the first trimester of pregnancy." "A tool for genotyping microsatellite repeats (RepeatSeq)" "PMID:23090981" - "The state of primary insensitivity or greatly reduced sensitivity of a given organism to the action of one or more drugs." + "The state of primary insensitivity or greatly reduced sensitivity of a given organism to the action of one or more drugs." "NCIT:C16523" "Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region." "NCIt:C87175 MedDRA:10019161 MedDRA:10009259 ICD9:749.1 ICD10:Q36 MedDRA:10009268 MedDRA:10009266 SNOMEDCT:80281008 MeSH:D002971 MedDRA:10009264 MedDRA:10009267 DOID:9296 MedDRA:10009265" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene." "MESH:C567683 DOID:0110453 OMIM:613252 GARD:15639 MEDGEN:412965 UMLS:C2750466" @@ -26176,7 +25986,6 @@ "LHSR is a cell line in which human prostate epithelial cells (PrEC) were infected with amphotropic retroviruses encoding the SV40 large T antigen (L), the telomerase catalytic subunit hTERT (H), the SV40 small T antigen (S) and an oncogenic allele of H-ras (R) to create LHSR cells." "A term describing a benign soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation." "NCIT:C4267 MEDGEN:87251 UMLS:C0334491 DOID:2667 ICDO:8990/0" - "Term applied to any organism able to undergo sexual reproduction in order to differentiate the individuals or types involved. Sexual reproduction is defined as the ability to exchange genetic material with the potential of recombinant progeny." "MO:680 NCIt:C28421 MeSH:D012723 PATO:0000047" "The palpebral fissure inclination is more than two standard deviations below the mean." "UMLS:C0423110 SNOMEDCT_US:246800008" "human breast carcinoma cell line established from the pleural effusion of the left side (14 days after EFM-192A) of a 46-year-old Caucasian woman with breast adenocarcinoma (DSMZ catalog number ACC 308)" "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" @@ -26201,7 +26010,7 @@ "A myeloblast committed to the eosinophil lineage." "SNOMEDCT:259719000" "A clear cell adenocarcinoma that involves the endometrium." "UMLS:C0279765 icd11.foundation:388735319 NCIT:C8028 DOID:5299 MEDGEN:124655 MONDO:0006191 EFO:1000231" "Orphanet:98985 GARD:16885" - "The N-acetyl derivative of L-leucine." "Reaxys:1724849 Gmelin:985259 KEGG:C02710 Wikipedia:Acetylleucine Chemspider:1918 PMID:3473611 PMID:22227165 HMDB:HMDB0011756 PMID:21185819 Beilstein:1724849 LINCS:LSM-20975 PMID:22770225 MetaCyc:CPD-433 CAS:1188-21-2" + "The N-acetyl derivative of L-leucine." "Reaxys:1724849 Gmelin:985259 KEGG:C02710 Wikipedia:Acetylleucine Chemspider:1918 PMID:3473611 PMID:22227165 HMDB:HMDB0011756 PMID:21185819 LINCS:LSM-20975 PMID:22770225 MetaCyc:CPD-433 CAS:1188-21-2" "The amount of a calcium/calmodulin-dependent protein kinase II inhibitor 2 when measured in blood serum." "Quantification of RNA-binding protein 24 in a sample." "PMID:29875488" "The amount of a ubiquitin-like domain-containing CTD phosphatase 1 when measured in blood serum." @@ -26245,7 +26054,7 @@ "GARD:18527 OMIM:619000 MEDGEN:1740295 UMLS:C5436574" "The amount of a cell death regulator Aven when measured in blood serum." "The determination of the amount of C-C motif chemokine 4-like in a sample" "PMID:34814699" - "The simplest member of the quinoline class of compounds, comprising a benzene ring ortho fused to C-2 and C-3 of a pyridine ring." "MetaCyc:QUINOLINE KNApSAcK:C00026478 KEGG:C06413 PMID:16406213 Wikipedia:Quinoline PMID:8070089 Beilstein:107477 HMDB:HMDB0033731 Reaxys:107477 Gmelin:27201 CAS:91-22-5" + "The simplest member of the quinoline class of compounds, comprising a benzene ring ortho fused to C-2 and C-3 of a pyridine ring." "MetaCyc:QUINOLINE KNApSAcK:C00026478 KEGG:C06413 PMID:16406213 Wikipedia:Quinoline PMID:8070089 HMDB:HMDB0033731 Reaxys:107477 Gmelin:27201 CAS:91-22-5" "The amount of a AP-1 complex subunit gamma-like 2 when measured in blood serum." "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" @@ -26320,7 +26129,7 @@ "Quantification of protein JTB in a sample." "PMID:29875488" "The amount of a tyrosine-protein phosphatase non-receptor type 1 when measured in blood." "PMID:37794183" "Benign partial epilepsy with secondarily generalized seizures in infancy is a rare infantile epilepsy syndrome characterized by seizures presenting with motion arrest and staring. They are followed by generalized tonic-clonic convulsions with normal interictal EEG and focal paroxysmal discharges, followed by generalization in ictal EEG. Seizures usually occur in clusters and are responsive to treatment. Psychomotor development is normal." "GARD:20073 MEDGEN:1656339 icd11.foundation:413225821 UMLS:C4749728 Orphanet:166302" - "A C4-dicarboxylate resulting from deprotonation of both carboxy groups of malic acid." "Beilstein:3664410 Reaxys:3664410 PMID:17190852 CAS:149-61-1 Gmelin:327305 KEGG:C00711" + "A C4-dicarboxylate resulting from deprotonation of both carboxy groups of malic acid." "Reaxys:3664410 PMID:17190852 CAS:149-61-1 Gmelin:327305 KEGG:C00711" "The amount of a putative phospholipase B-like 2 when measured in blood serum." "Layer that lines the lumen of the heart." "ZFA:0001320 MA:0000076 EMAPA:17868 FMA:7280 TAO:0001320 EV:0100021 MAT:0000455 BTO:0000387" "A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." "ONCOTREE:CHOL Orphanet:70567 SCTID:312104005 ICD10:C24.0 EFO:0005221 icd11.foundation:2110597275 GARD:0009304 ICD10:C22.1 ICD10:C24.8 MESH:D018281 MEDGEN:60210 ICDO:8160/3 GARD:9304 UMLS:C0206698 NORD:926 MedDRA:10004593 NCIT:C4436 MedDRA:10008593 MONDO:0019087 DOID:4947 ICD10:C24.9" @@ -26388,7 +26197,7 @@ "Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography." "UMLS:C0476397 SNOMEDCT_US:274524001" "The amount of a protein phosphatase inhibitor 2 when measured in blood." "PMID:37794183" "Chronic graft versus host disease (GVHD) is a complication that can occur after a stem cell or bone marrow transplant in which the newly transplanted donor cells attack the transplant recipient's body. Symptoms may include skin rash, mouth sores, dry eyes, liver inflammation, development of scar tissue in the skin and joints, and damage to the lungs. The exact cause of chronic GVHD is unknown.It likely results from a complex immune-mediated interaction between the donor and recipient cells.Chronic GVHD is treated with prednisone or other similar anti-inflammatory or immunosuppressive medications." "SCTID:402356004 MEDGEN:167851 ICD10CM:D89.811 icd11.foundation:621183043 GARD:10964 NANDO:2200812 NCIT:C4981 ICD9:279.52 NANDO:2100213 Orphanet:99921 UMLS:C0867389 MedDRA:10066261" - "An aryl sulfate that is phenol bearing an O-sulfo substituent." "PMID:22827565 Beilstein:2047161 KEGG:C02180 Reaxys:2047161 PMID:12119069 PMID:25041144 PMID:22770225 CAS:937-34-8 HMDB:HMDB0060015" + "An aryl sulfate that is phenol bearing an O-sulfo substituent." "PMID:22827565 KEGG:C02180 Reaxys:2047161 PMID:12119069 PMID:25041144 PMID:22770225 CAS:937-34-8 HMDB:HMDB0060015" "The amount of a tryptase delta when measured in blood." "PMID:37794183" @@ -26430,7 +26239,6 @@ "The determination of the amount of keratin, type I cytoskeletal 18 in a sample" "PMID:28240269" "OMIM:266255 ICD10:Q87.8" - "A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia." "MESH:D019846 MEDGEN:95994 Orphanet:98919 UMLS:C0393799 MedDRA:10049567 DOID:12889 MONDO:0005851 icd11.foundation:134795253 NCIT:C116958 GARD:3668 MeSH:D019846 SCTID:1767005" "Female restricted epilepsy with intellectual disability is a rare X-linked genetic epilepsy syndrome affecting females. The syndrome is characterized by seizures starting in the first years of life and intellectual disability and may resemble Dravet syndrome (see this term). In families with this disease, male carriers are unaffected despite the X-linked inheritance." "OMIM:300088" @@ -26454,13 +26262,12 @@ "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a disturbance in organismal or cellular homeostasis, usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation)." "Quantification of the amount of pregnenediol disulfate (C21H34O8S2) in a sample." "PMID:35347128" "A very rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia." "UMLS:C4289991 GARD:20152 Orphanet:178487 icd11.foundation:1601222948 MEDGEN:927523 NCIT:C128344" - "Infection with flukes (trematodes) of the genus SCHISTOSOMA. Three species produce the most frequent clinical diseases: SCHISTOSOMA HAEMATOBIUM (endemic in Africa and the Middle East),SCHISTOSOMA MANSONI (in Egypt, northern and southern Africa, some West Indies islands, northern 2/3 of South America), and SCHISTOSOMA JAPONICUM (in Japan, China, the Philippines, Celebes, Thailand, Laos). S. mansoni is often seen in Puerto Ricans living in the United States." "MedDRA:10039603 SCTID:10087007 Wikipedia:Schistosomiasis GARD:9687 DOID:1395 icd11.foundation:1194562592 Orphanet:1247 MESH:D012552 MEDGEN:48573 ICD10:B65 ICD9:120.9 ICD9:120.8 MedDRA:10039611 UMLS:C0036323 NCIT:C35000 MONDO:0015254 NCIt:C35000 MeSH:D012552" "The amount of a chloride intracellular channel protein 3 when measured in blood serum." "A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin." "NCIT:C4375 NANDO:2200399 SCTID:42681006 MeSH:D046768 MEDGEN:351247 OMIMPS:256450 DOID:13317 MedDRA:10077227 GARD:21849 Orphanet:443095 NANDO:2100143 UMLS:C1864903 MONDO:0005803 HP:0000825" "The amount of a small proline-rich protein 3 when measured in blood." "PMID:37794183" "MedDRA:10035657 ICD10:J63 MeSH:D011009 MedDRA:10035653 UMLS:C0032273" - "An imidazolidine that is N-nitroimidazolidin-2-imine bearing a (6-chloro-3-pyridinyl)methyl substituent at position 1." "PMID:22200056 PMID:11502148 PMID:15212911 Reaxys:5444268 PMID:18924117 PMID:34634905 PMID:18069649 PMID:25314907 Patent:US4742060 PMID:25607931 PMID:15922528 PMID:14747770 PMID:22461500 PMID:22290795 PMID:19916392 PMID:22398690 PMID:14690387 PMID:19962320 CAS:138261-41-3 PMID:11673842 PMID:22395200 PMID:12146171 PMID:22375595 PMID:11699773 PMID:25342464 PMID:18190949 PMID:16845714 PMID:11872245 Patent:EP192060 PMID:22370410 PMID:16690142 PMID:16406588 PMID:25155403 Beilstein:5444268 PMID:16160767 PMID:22447470 PMID:15246549 PMID:25837412 PMID:16156564 PMID:25597673 PMID:25492586 PMID:22083888 PMID:22420257 PMID:22224401 PMID:25612154 Pesticides:imidacloprid PMID:18973940 PMID:12720336 PMID:22022787 PMID:22375594 KEGG:C11110 PMID:16453147 CAS:105827-78-9 PMID:22459587 PMID:22119037 PMID:16539142 PMID:22228315 PMID:25840341 PMID:25666568 PMID:25557105 PMID:25618634 PMID:25467410 PMID:25826181 PMID:24515672 PMID:18188485 PMID:18348816 PMID:25799432 PMID:18977458 Wikipedia:Imidacloprid PMID:15154510 PMID:25755197" + "An imidazolidine that is N-nitroimidazolidin-2-imine bearing a (6-chloro-3-pyridinyl)methyl substituent at position 1." "PMID:22200056 PMID:11502148 PMID:15212911 Reaxys:5444268 PMID:18924117 PMID:34634905 PMID:18069649 PMID:25314907 Patent:US4742060 PMID:25607931 PMID:15922528 PMID:14747770 PMID:22461500 PMID:22290795 PMID:19916392 PMID:22398690 PMID:14690387 PMID:19962320 CAS:138261-41-3 PMID:11673842 PMID:22395200 PMID:12146171 PMID:22375595 PMID:11699773 PMID:25342464 PMID:18190949 PMID:16845714 PMID:11872245 Patent:EP192060 PMID:22370410 PMID:16690142 PMID:16406588 PMID:25155403 PMID:16160767 PMID:22447470 PMID:15246549 PMID:25837412 PMID:16156564 PMID:25597673 PMID:25492586 PMID:22083888 PMID:22420257 PMID:22224401 PMID:25612154 Pesticides:imidacloprid PMID:18973940 PMID:12720336 PMID:22022787 PMID:22375594 KEGG:C11110 PMID:16453147 CAS:105827-78-9 PMID:22459587 PMID:22119037 PMID:16539142 PMID:22228315 PMID:25840341 PMID:25666568 PMID:25557105 PMID:25618634 PMID:25467410 PMID:25826181 PMID:24515672 PMID:18188485 PMID:18348816 PMID:25799432 PMID:18977458 Wikipedia:Imidacloprid PMID:15154510 PMID:25755197" "The amount of a adhesion G-protein coupled receptor G1 when measured in blood." "PMID:37794183" "A mesenchymal stem cell that is part of the bone marrow." "FVB/NJ was inbred for the Fv1b allele which confers sensitivity to the Friend leukemia virus B strain. Due to the prominent pronuclei in their fertilized eggs and the large litter size, FVB/NJ mice are commonly used for transgenic injection. Compared to many other inbred strains, FVB/NJ is highly susceptible to asthma-like airway responsiveness with significant generation of antigen-specific IgE. Despite having the H2q MHC haplotype, FVB/NJ are resistant to collagen-induced arthritis. This resistance stems from coding polymorphisms in Tcra-V11.1 and a genomic deletion of some Tcrb-V genes that includes Tcrb-V8.2. FVB/NJ have higher than average activity, anxiety, and basal body temperature, low stress-induced hyperthermia, and are homozygous for the Pde6brd1 allele, which results in early onset retinal degeneration. Although FVB/N typically do not develop spontaneous tumors, they are highly susceptible to chemically induced squamous cell carcinomas with a high rate of malignant conversion from papilloma to carcinoma. " @@ -26600,7 +26407,7 @@ "Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies." "MESH:C566826 icd11.foundation:905361904 Orphanet:60015 OMIMPS:168500 GARD:16662 HP:0002697 SCTID:718099006 DOID:0060285" - "An amino cyclitol glycoside that is kanamycin A acylated at the N-1 position by a 4-amino-2-hydroxybutyryl group." "SNOMEDCT:387266001 PMID:19495517 NCIt:C61615 Wikipedia:Amikacin PMID:15305513 PMID:8622103 KEGG:D02543 LINCS:LSM-5935 HMDB:HMDB0014622 PMID:11744283 PMID:8622117 PMID:25296102 MeSH:D000583 KEGG:C06820 PMID:20195673 PMID:25630642 Beilstein:5915117 DrugBank:DB00479 PMID:9327246 PMID:17365906 Patent:US3781268 PMID:25327505 MetaCyc:CPD-14197 PMID:19752274 Patent:DE2234315 Drug_Central:157 SNOMEDCT:48836000 Reaxys:5915117 CAS:37517-28-5 PMID:25339395" + "An amino cyclitol glycoside that is kanamycin A acylated at the N-1 position by a 4-amino-2-hydroxybutyryl group." "SNOMEDCT:387266001 PMID:19495517 NCIt:C61615 Wikipedia:Amikacin PMID:15305513 PMID:8622103 KEGG:D02543 LINCS:LSM-5935 HMDB:HMDB0014622 PMID:11744283 PMID:8622117 PMID:25296102 MeSH:D000583 KEGG:C06820 PMID:20195673 PMID:25630642 DrugBank:DB00479 PMID:9327246 PMID:17365906 Patent:US3781268 PMID:25327505 MetaCyc:CPD-14197 PMID:19752274 Patent:DE2234315 Drug_Central:157 SNOMEDCT:48836000 Reaxys:5915117 CAS:37517-28-5 PMID:25339395" "Quantification of triacylglycerol 49:1 in a sample." "PMID:35668104" "An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." "DOID:0050718 MONDO:0005528" "An instance of Chilblain lupus that is caused by an inherited modification of the individual's genome." "OMIMPS:610448 GARD:17874 Orphanet:481662 UMLS:C5688224 MEDGEN:1807766" @@ -26688,7 +26495,6 @@ "Quantification of histone-lysine N-methyltransferase 2D in a sample." "PMID:29875488" - "Viral cardiomyopathy occurs when viral infections cause myocarditis with a resulting thickening of the myocardium and dilation of the ventricles. These viruses include Coxsackie B and adenovirus, echoviruses, influenza H1N1, Epstein-Barr virus, rubella (German measles virus), varicella (chickenpox virus), mumps, measles, parvoviruses, yellow fever, dengue fever, polio, rabies and the viruses that cause hepatitis A and C" "SNOMEDCT:30496006 MedDRA:10068767 MONDO:0005200 UMLS:C0264797 MEDGEN:538852 SCTID:30496006 Wikipedia:Viral_cardiomyopathy" "Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC6 gene." "UMLS:C3551173 GARD:15320 MEDGEN:764087 NCIT:C173106 OMIM:600630" "quantification of the volume of the putamen, a round structure located at the base of the forebrain" "A human ovarian epithelial-endometroid carcinoma cell line established from a pleural effusion. Anchorage-independent growth in agar has been reported. (Sigma-Aldrich catalog number 07071910)" @@ -26893,7 +26699,7 @@ "Paired secretory organ connected to the atrium via the salivary duct. It is essentially composed of two cell types: cuboidal epithelial duct cells that form tubes connecting the secretory cells to the larval mouth; and secretory cells that synthesize and secrete high levels of protein (Andrew et al., 2000)." "TADS:0000119 TGMA:0001804 MAT:0000079 EHDAA:7987 MA:0000346 FBbt:00005382 EMAPA:17751 BTO:0001203 SAEL:92 FMA:9597" "MEDGEN:609365 Orphanet:141265 icd11.foundation:1934815559 UMLS:C0432120 GARD:19969" "A cystic dilation of the EPIDIDYMIS, usually in the head portion (caput epididymis). The cyst fluid contains dead SPERMATOZOA and can be easily differentiated from TESTICULAR HYDROCELE and other testicular lesions." "MONDO:0006977 MEDGEN:20857 ICD10CM:N43.4 MeSH:D013088 MESH:D013088 DOID:11997 MedDRA:10041490 ICD9:608.1 SCTID:49263001 UMLS:C0037859 ICD10:N43.4 NCIt:C120909 ICD10:N43 icd11.foundation:1907004531 SNOMEDCT:49263001" - "An aldehyde resulting from the formal oxidation of methanol." "PMID:7548723 Drug_Central:3244 Wikipedia:Formaldehyde PMID:9686972 PMID:7896413 CAS:50-00-0 PMID:12686735 Reaxys:1209228 PMID:110589 PPDB:359 DrugBank:DB03843 PMID:15091529 KEGG:C00067 PDBeChem:FOR PMID:16423181 Beilstein:1209228 PMID:25042713 PMID:17618393 KEGG:D00017 PMID:18837732 PMID:7381846 MetaCyc:FORMALDEHYDE UM-BBD_compID:c0122 HMDB:HMDB0001426 Gmelin:445 PMID:7689168" + "An aldehyde resulting from the formal oxidation of methanol." "PMID:7548723 Drug_Central:3244 Wikipedia:Formaldehyde PMID:9686972 PMID:7896413 CAS:50-00-0 PMID:12686735 Reaxys:1209228 PMID:110589 PPDB:359 DrugBank:DB03843 PMID:15091529 KEGG:C00067 PDBeChem:FOR PMID:16423181 PMID:25042713 PMID:17618393 KEGG:D00017 PMID:18837732 PMID:7381846 MetaCyc:FORMALDEHYDE UM-BBD_compID:c0122 HMDB:HMDB0001426 Gmelin:445 PMID:7689168" "Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia." "OMIM:185000 UMLS:C1861455 GARD:4183 SCTID:722125003 MEDGEN:348876 DOID:0111562 Orphanet:3203 icd11.foundation:595647587 MESH:C566111" "The amount of a NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 when measured in blood serum." "human melanoma cell line established from metastasised lymph node of a 62 year old Japanese man" @@ -26918,7 +26724,6 @@ "OMIM:619641 MEDGEN:1794242 UMLS:C5562032 DOID:0070408" "OMIM:300000 ICD10:Q87.8" - "The chemical reactions and pathways resulting in the formation of substances, carried out by individual cells." "Quantification of the amount of 1-heptadecanoylglycerophosphocholine in a sample." "PMID:24816252" "Orphanet:261831 UMLS:C5679661 MEDGEN:1825963 GARD:20802" "quantification of suicide ideation " @@ -26926,7 +26731,6 @@ "The amount of a neuronal-specific septin-3 when measured in blood serum." "MeSH:D016839" "Quantification of ras-related protein Rab-14 in a sample." "PMID:29875488" - "Quantification of some ceruloplasmin in the blood. " "SNOMEDCT:270975004" "human stomach adenocarcinoma cell line from a 72 year old male" "Quantification of the amount of 3-methoxytyramine sulfate in a sample." "PMID:35347128" "Malformations of organs or body parts during development in utero." "MeSH:D000013" @@ -26939,6 +26743,7 @@ "OMIM:310200 ICD10:G71.0 UMLS:C0013264 MedDRA:10013801 MeSH:D020388" "A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes." "DOID:0060012" "Acute-on-chronic liver failure (ACLF) is an extreme condition during the natural history of chronic HBV infection, with a relatively high short-term mortality." "PMID:28130311" + "A specimen for which it is known whether it has been subjected to storage of a specified type."@en "A specimen for which it is known whether it has been subjected to storage of a specified type." "Translation-associated TL-seq (TATL-seq)" "PMID:23580730" "Quantification of conserved oligomeric Golgi complex subunit 8 in a sample." "PMID:29875488" @@ -27068,7 +26873,7 @@ "BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" "A plague in which the bacteria have infected the lungs." "MEDGEN:105580 ICD9:020.4 UMLS:C0524688 ICD10CM:A20.2 ICD9:020.3 icd11.foundation:1983098110 SCTID:35339003 ICD9:020.5 DOID:10398" "The amount of a vascular endothelial growth factor B when measured in blood serum." - "A 2-oxo monocarboxylic acid anion that is the conjugate base of pyruvic acid, arising from deprotonation of the carboxy group." "PMID:22016370 PMID:22215378 PMID:21854850 PMID:22006570 Beilstein:3587721 PMID:21823181 PMID:22458763 PMID:22311625 Reaxys:3587721 KEGG:C00022 Gmelin:2502 PMID:22451307 UM-BBD_compID:c0159 PMID:17190852 PMID:21603897 CAS:57-60-3" + "A 2-oxo monocarboxylic acid anion that is the conjugate base of pyruvic acid, arising from deprotonation of the carboxy group." "PMID:22016370 PMID:22215378 PMID:21854850 PMID:22006570 PMID:21823181 PMID:22458763 PMID:22311625 Reaxys:3587721 KEGG:C00022 Gmelin:2502 PMID:22451307 UM-BBD_compID:c0159 PMID:17190852 PMID:21603897 CAS:57-60-3" "GARD:20804 UMLS:C5679663 Orphanet:261841 MEDGEN:1825965" "Thinking that is coherent and logical, using knowledge to evaluate the truth value of a proposition." "NCIt:C86584" @@ -27081,7 +26886,6 @@ "Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens." "GTR:AN0098652 GTR:AN0098650 MEDGEN:82785 DOID:0080776 NORD:771 GARD:5692 ICD10CM:E34.52 MESH:C538435 GTR:AN0098654 Orphanet:90797 OMIM:312100 GTR:AN0098651 OMIM:312300 UMLS:C0268301 NCIT:C120192 GTR:AN0098655 OMIM:307300 GTR:AN0098649 SCTID:122811000119101" "A disease of the heart muscle or myocardium proper whose cause is unknown." "NCIt:C53654 UMLS:C0033141 NCIT:C53654 MONDO:0005110 MEDGEN:18634" "Quantification of tridihexethyl bromide in blood plasma." "KEGG COMPOUND:C11761" - "A primary bacterial infectious disease that results_in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli." "SCTID:276202003 MONDO:0005526 NCIT:C85185 DOID:11338 SCTID:76902006 icd11.foundation:1793762788 SNOMEDCT:76902006 MEDGEN:21489 UMLS:C0039614 NCIt:C85185 ICD9:037 MESH:D013742 MedDRA:10043376 MeSH:D013742 Orphanet:3299 GARD:5144" "The amount of a sulfite oxidase, mitochondrial when measured in blood." "PMID:37794183" "Recurrent episodes of decreased concentration of glucose in the blood." "UMLS:C1846288" "The amount of a protein-lysine N-methyltransferase EEF2KMT when measured in blood serum." @@ -27202,7 +27006,6 @@ "quantification of the area of the breast tissue that is dense, expressed in cm2" "PMID:25342443" "The determination of the amount of discoidin domain-containing receptor 2 in a sample" "PMID:28240269" "The most common clinical variant of MULTIPLE SCLEROSIS, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see OPTIC NEURITIS), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914)" "MedDRA:10063399 MEDGEN:155669 MeSH:D020529 SNOMEDCT:230372003 MONDO:0005314 NANDO:2201319 MESH:D020529 SCTID:426373005 UMLS:C0751967 NANDO:1200024 SNOMEDCT:426373005 NCIT:C165675 DOID:2378 icd11.foundation:799053936" - "Brief reversible episodes of focal, nonconvulsive ischemic dysfunction of the brain having a duration of less than 24 hours, and usually less than one hour, caused by transient thrombotic or embolic blood vessel occlusion or stenosis. Events may be classified by arterial distribution, temporal pattern, or etiology (e.g., embolic vs. thrombotic). (From Adams et al., Principles of Neurology, 6th ed, pp814-6)" "ICD9:435 ICD9:435.9 MedDRA:10072760 HP:0002326 MONDO:0005264 ICD9:435.8 DOID:224 MEDGEN:853 MESH:D002546 SNOMEDCT:266257000 SCTID:266257000 MeSH:D002546 ICD10:G45 UMLS:C0007787 NCIt:C50781 NCIT:C50781" "The amount of a N-acyl-aromatic-L-amino acid amidohydrolase, carboxylate-forming when measured in blood." "PMID:37794183" "Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE)." "ICD10:M94 MeSH:D002357 DOID:1222 SNOMEDCT:50927007" "Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the TAF1 gene." "UMLS:C4225418 MEDGEN:895979 OMIM:300966" @@ -27215,7 +27018,6 @@ "FBbt:00000449" "Chronic inflammation and loss of PERIODONTIUM that is associated with the amount of DENTAL PLAQUE or DENTAL CALCULUS present. Chronic periodontitis occurs mostly in adults and was called adult periodontitis, but this disease can appear in young people." "MedDRA:10009102 MONDO:0005593 ICD9:523.40 SCTID:5689008 ICD9:523.4 OMIM:260950 ICD10CM:K05.3 NCIt:C35326 OMIM:170650 icd11.foundation:1242548497 MeSH:D055113 MESH:D055113 SNOMEDCT:5689008 NCIT:C35326" "Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk." "SNOMEDCT_US:86708008 UMLS:C3806554 UMLS:C0036508 SNOMEDCT_US:50563003" - "Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" "MedDRA:10028003 ICD9:335.8 ICD10CM:G12.2 DOID:231 UMLS:C0085084 icd11.foundation:661720689 MedDRA:10028002 GARD:19477 Orphanet:98503 MEDGEN:38785 SNOMEDCT:37340000 MESH:D016472 SCTID:37340000 ICD9:335.2 MONDO:0020128 ICD9:335.9 MeSH:D016472" "A chronic autoimmune disorder that belongs to the mucous membrane pemphigoid disorders. It is characterized by bilateral scarring and opacification of the conjunctivae. It presents with pain and burning sensation in the eyes and photophobia. It leads to blindness. [ NCI ]" "SCTID:34250006 ICD9:694.61 ICD9:694.6 MONDO:0018746 Orphanet:46486 MedDRA:10057052 GARD:5913 SCTID:76092003 MEDGEN:10619 icd11.foundation:1456138933 ORDO:Orphanet_46486 NCIT:C34907 UMLS:C0030804 NANDO:1200634 DOID:11656" "A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile." "DOID:12308 UMLS:C0022350 ICD10:E80.6 MeSH:D007566 MedDRA:10013800 OMIM:237500" "OBSOLETE. Isolated scaphocephaly is a form of nonsyndromic craniosynostosis characterized by premature fusion of the sagittal suture." "NANDO:2201302 Orphanet:35093" @@ -27251,7 +27053,6 @@ "A benign neoplasm that involves the lip." "ICD9:210.0 SCTID:92185002 UMLS:C0153932 NCIT:C3591 ICD10CM:D10.0 icd11.foundation:2019143477 MEDGEN:102294" "The amount of a H/ACA ribonucleoprotein complex subunit 2 when measured in blood serum." "The result of a measurement of circulating antibodies specific to a faecalibacterium antigen." "PMID:37164013" - "An intracranial or rarely intraspinal suppurative process invading the space between the inner surface of the DURA MATER and the outer surface of the ARACHNOID." "DOID:11389 UMLS:C0038539 MONDO:0006984 MedDRA:10042360 MESH:D013354 SNOMEDCT:37660004 MeSH:D013354 SCTID:37660004 MEDGEN:52531" "A human disease caused by infection with Aleutian mink disease parvovirus." "SCTID:62251004 MESH:D000453 ICD9:079.89" "The amount of a MIT domain-containing protein 1 when measured in blood serum." @@ -27295,7 +27096,6 @@ "An organismal quality inhering in a bearer by virtue of the bearer's ability to undergo sexual reproduction in order to differentiate the individuals or types involved. [ MGED:MGED ]" "Brachyolmia type 1, Hobaek type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, platyspondyly, horizontal acetabular roof, short femoral neck without corneal opacities." "OMIM:271530 ICD10:Q76.3" "A neuron that is capable of some hormone secretion in response to neuronal signals." "NCIt:C12485 FMA:83810 BTO:0002691 ZFA:0009098 FBbt:00005130" - "Cardiovascular manifestations of SYPHILIS, an infection of TREPONEMA PALLIDUM. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the AORTA and the AORTIC VALVE. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic ANEURYSM." "ICD9:093.1 MeSH:D013589 SNOMEDCT:20735004 MEDGEN:364 SCTID:20735004 ICD10CM:A52.02 MedDRA:10042900 DOID:11582 ICD10:A52.02 MONDO:0006992 UMLS:C0003511 icd11.foundation:921262131" "A usually unilateral, benign and well circumscribed biphasic neoplasm that arises from the breast. It usually affects middle-aged women. It is characterized by the presence of a double layer of epithelial cells that are arranged in clefts, surrounded by a cellular, monomorphic spindle cell mesenchymal component. Mitoses are rare. Necrotic changes may be present in large tumors." "MEDGEN:231438 NCIT:C5196 icd11.foundation:827143668 ONCOTREE:BPT DOID:1631 SCTID:720344007 Orphanet:180261 UMLS:C1332533 MedDRA:10011813" "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of Par-4 dependent chemotherapy stimulus." "PMID:35322040" "Dental caries involving the tooth root, cementum, or cervical area of the tooth." "MEDGEN:57954 MONDO:0006957 MESH:D017213 SCTID:30512007 UMLS:C0162644 ICD9:521.08 MeSH:D017213 DOID:14089" @@ -27354,7 +27154,7 @@ "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4A gene." "OMIM:614380 GARD:15798 DOID:0060297 MESH:C565167 MEDGEN:482272 UMLS:C3280642" "The amount of a alpha-1-acid glycoprotein 1 when measured in blood." "PMID:37794183" "quantification of some aspect of SSRI use" - "Component of the parietal lobe. The appearance and disappearance of the central sulcus were the rostral and caudal boundaries of the postcentral gyrus respectively. The medial and lateral boundaries were the lateral bank of the precentral gyrus and the lateral fissure and/or the medial bank of the superior parietal gyrus respectively (Christine Fennema-Notestine)." "UMLS:C0152302 FMA:61896 BTO:0004354 HBA:4085 NCIT:C33346 DHBA:12132 SCTID:279167001 BIRNLEX:1070 Wikipedia:Postcentral_gyrus BAMS:PoG EFO:0001383 neuronames:105" + "Component of the parietal lobe. The appearance and disappearance of the central sulcus were the rostral and caudal boundaries of the postcentral gyrus respectively. The medial and lateral boundaries were the lateral bank of the precentral gyrus and the lateral fissure and/or the medial bank of the superior parietal gyrus respectively (Christine Fennema-Notestine)." "UMLS:C0152302 FMA:61896 BTO:0004354 NCIT:C33346 HBA:4085 DHBA:12132 SCTID:279167001 BIRNLEX:1070 Wikipedia:Postcentral_gyrus BAMS:PoG EFO:0001383 neuronames:105" "Quantification of chitinase-3-like protein 1 in a sample." "PMID:29875488" "The amount of a splicing factor 4 when measured in blood." "PMID:37794183" "Any brachydactyly type B in which the cause of the disease is a mutation in the ROR2 gene." "GARD:18009 UMLS:C1862112 MESH:C566196 OMIM:113000 Orphanet:572385 DOID:0110969 MEDGEN:349432" @@ -27395,7 +27195,6 @@ "The amount of a coatomer subunit beta' when measured in blood." "PMID:37794183" "The amount of a butyrophilin-like protein 9 when measured in blood serum." - "A viral infectious disease that results_in infection in sheep and goats, has_material_basis_in Border disease virus, which is transmitted_by congenital method. The infection has_symptom abortion, has_symptom stillbirth, has_symptom hairy fleece in lambs, and has_symptom abnormal body conformation." "MESH:D001882 DOID:4804 MONDO:0005675 MeSH:D001882" "This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases." "SCTID:716199000 UMLS:C1866802 GARD:3449 Orphanet:3038 MEDGEN:355803 OMIM:182875" "OMIM:614201 ICD10:D69.8" "Quantification of triglycerides to total lipids in medium LDL." @@ -27525,7 +27324,6 @@ "Any process that activates or increases the frequency, rate or extent of locomotion of a cell or organism." "The amount of a ATPase GET3 when measured in blood." "PMID:37794183" - "Cystic fibrosis associated meconium ileus is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis. In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosis The presence of meconium ileus is not related to the severity of the cystic fibrosis." "MONDO:0005413 UMLS:C0546982 MEDGEN:639765" "A parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus Paragonimus. In the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegaly, pulmonary abnormalities, and eosinophilia. Pulmonary manifestations include cough, expectoration of discolored sputum, hemoptysis, and chest radiographic abnormalities. Various organs like brain, spleen and liver can be infected." "MESH:D010237 MedDRA:10033794 MeSH:D010237 UMLS:C0030424 Orphanet:658913 ICD10CM:B66.4 NCIT:C84995 SCTID:30369007 icd11.foundation:1422824299 DOID:10699 MEDGEN:14603 GARD:9815 MONDO:0005895 ICD9:121.2" "Nodular goiter characterized by more than one discrete tissue mass." "OMIMPS:138800 SCTID:237570007 NCIT:C131438 UMLS:C0342208 MEDGEN:87431 DOID:0050489" @@ -27582,7 +27380,6 @@ "X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV)." "OMIM:300635 MedDRA:10068348 UMLS:C0549463 ICD10:D82.3 MeSH:D008232 OMIM:308240" "an approach that complements the Bru-seq technique by enhancing nascent RNA signal around promoters and enhancers genome-wide in intact cells" "PMID:26656874" "Connect the outflow of the aortic arches to the dorsal aorta. The place where the lateral dorsal aorta fuse is is called the radiax of the aorta. Isogai et al. 2001." "ZFA:0001054" - "An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. THIAMINE DEFICIENCY and chronic ALCOHOLISM are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to KORSAKOFF SYNDROME. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3)" "MONDO:0007020 ICD10CM:E51.2 MESH:D014899 MEDGEN:53073 MeSH:D014899 Orphanet:97354 SCTID:21007002 ICD9:265.1 icd11.foundation:1360335041 UMLS:C0043121 DOID:2384" "The amount of a sperm protein associated with the nucleus on the X chromosome N4 when measured in blood serum." "MEDGEN:375009 UMLS:C1842763 SCTID:703523004 MESH:C564307 SCTID:254079002 OMIM:271550 GARD:4978 Orphanet:1855 NANDO:2200744 MESH:C535782 ICD9:759.89 ICD9:756.9 OMIM:607944 Orphanet:50816" @@ -27645,7 +27442,6 @@ "OMIM:251110 MeSH:C537361 ICD10:E71.1" "The amount of a 5'-3' exonuclease PLD3 when measured in blood serum." - "Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved." "GARD:10877 UMLS:C0263628 MedDRA:10059364 Orphanet:53715 MEDGEN:452340 MONDO:0018891" "A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta." "UMLS:C4025218" "An ergoline alkaloid that is the N-benzyloxycarbonyl derivative of lysergamine. A 5-HT2 antagonist. Also 5-HT1 antagonist and 5-HT1D ligand. Has moderate affinity for 5-HT6 and high affinity for 5-HT7." "CiteXplore:20377624 KEGG DRUG:D07218 PMID:20845263 PMID:19539656 Wikipedia:Metergoline PMID:21600959 ChemIDplus:17692-51-2 PMID:19945477 CiteXplore:19945477 PMID:18996971 PMID:20451398 NIST Chemistry WebBook:17692-51-2 PMID:22218419 PMID:19484723 CiteXplore:21600959 PMID:19538518 CiteXplore:18996971 LINCS:LSM-3265 PMID:21354537 PMID:24134630 CiteXplore:19484723 CiteXplore:22218419 ChEMBL:121938 PMID:19632276 CiteXplore:19539656 PMID:21880033 KEGG:D07218 Drug_Central:1723 KEGG DRUG:17692-51-2 CiteXplore:19538518 PMID:20377624 CiteXplore:21354537 CiteXplore:21475142 PMID:21475142 CiteXplore:21880033 CiteXplore:20451398 CiteXplore:19509219 MeSH:D008711 NCIt:C91039 CAS:17692-51-2 PMID:19509219 Reaxys:5362415 CiteXplore:19632276 CiteXplore:20845263" "Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congential malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life." "MEDGEN:141589 ICD9:748.5 GARD:16591 Orphanet:2257 OMIM:265430 SCTID:277656005 UMLS:C0456891 icd11.foundation:1778475393" @@ -27680,7 +27476,6 @@ "The amount of a ADP-ribosylation factor-like protein 9 when measured in blood serum." "Quantification of hepatocyte nuclear factor 1-alpha in a sample." "PMID:29875488" "UMLS:C0854248 SCTID:430395005 MEDGEN:678525" - "An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in Microsporidia phylum members." "Orphanet:2552 MedDRA:10053982 MEDGEN:39278 NCIT:C84891 MeSH:D016881 GARD:3655 icd11.foundation:1021483422 DOID:4271 SCTID:699676006 ICD9:117.9 UMLS:C0085407 MONDO:0005846 MESH:D016881" "Inability to reproduce after a specified period of unprotected intercourse. Reproductive sterility is permanent infertility." "SNOMEDCT:261029002 MeSH:D007246 NCIt:C3836 MedDRA:10021939 NCIT:C3836 SNOMEDCT:15296000 MedDRA:10021940 MONDO:0005047 UMLS:C0021359 MedDRA:10021937 MedDRA:10021926 MedDRA:10021938 DOID:5223 MedDRA:10021935 SNOMEDCT:8619003 MedDRA:10021936 MEDGEN:43876 MedDRA:10021941 MESH:D007246" "A drug that prevents or reduces fever by lowering the body temperature from a raised state. An antipyretic will not affect the normal body temperature if one does not have fever. Antipyretics cause the hypothalamus to override an interleukin-induced increase in temperature. The body will then work to lower the temperature and the result is a reduction in fever." "Wikipedia:Antipyretic SNOMEDCT:76644002" "FASTQ format is a text-based format for storing both a biological sequence (usually nucleotide sequence) and its corresponding quality scores." @@ -27732,7 +27527,6 @@ "ICD10:Q04.3 OMIM:616212 OMIM:617255 MeSH:D054082 UMLS:C0266463 MedDRA:10048911 OMIM:618325" "UMLS:C0398593 SCTID:234587000 OMIMPS:245480 MESH:C562873 GARD:10778 MEDGEN:140766 Orphanet:169142" "The age at which childhood onset asthma manifestations first appear." - "The condition of weighing two, three, or more times the ideal weight, so called because it is associated with many serious and life-threatening disorders. In the BODY MASS INDEX, morbid obesity is defined as having a BMI greater than 40.0 kg/m2." "SCTID:83911000119104 MeSH:D009767 DOID:11981 NIFSTD:nlx_dys_20090303 ICD9:278.01 NCIt:C34858 MONDO:0005139 MEDGEN:18128 MedDRA:10027966 UMLS:C0028756 SNOMEDCT:238136002 MESH:D009767" "SCTID:87872006 MONDO:0005339 MedDRA:10068168 MEDGEN:56404 ICD9:704.09 DOID:0050801 ICD10:L64 GARD:9269 UMLS:C0162311" "OMIM:309580" "The determination of the amount of platelet-derived growth factor receptor alpha in a sample" "PMID:34814699" @@ -27827,7 +27621,7 @@ "The amount of a olfactomedin-like protein 1 when measured in blood serum." "The amount of a monocarboxylate transporter 4 when measured in blood serum." "A portion of plant tissue that consists of mass of undifferentiated plant cells. Consists primarily of parenchyma cells but may contain other cell types as the callus begins to differentiate. May be formed as a result of wounding or may develop in culture." "PO:0005052" - "An ortho- and peri-fused polycyclic arene consisting of a naphthalene and benzene unit connected by a five-membered ring." "Reaxys:1907918 PMID:17258277 Beilstein:1907918 PMID:24151025 KEGG:C19425 MetaCyc:CPD-15564 Wikipedia:Fluoranthene Gmelin:262216 PMID:23943046 PMID:15278918 CAS:206-44-0" + "An ortho- and peri-fused polycyclic arene consisting of a naphthalene and benzene unit connected by a five-membered ring." "Reaxys:1907918 PMID:17258277 PMID:24151025 KEGG:C19425 MetaCyc:CPD-15564 Wikipedia:Fluoranthene Gmelin:262216 PMID:23943046 PMID:15278918 CAS:206-44-0" "A malignant neoplasm involving the vestibulocochlear nerve." "UMLS:C0346331 SCTID:254980001 NCIT:C4539 DOID:2814 MEDGEN:83418" "A benign ovarian stromal tumor in which more than 90% of the tumor cells resemble steroid hormone-secreting cells. Crystals of Reinke are not present. It occurs in post-menopausal women and it is usually associated with estrogenic effects." "NCIt:C3202" @@ -27847,7 +27641,7 @@ "A disease or disorder that involves the mouth mucosa." "UMLS:C1290071 SCTID:128046007 MEDGEN:712457" - "A member of the class of chloroethenes that is ethene substituted by chloro groups at positions 1, 1 and 2." "PMID:8319644 HMDB:HMDB0029593 PMID:16641322 MeSH:D014241 PMID:11280697 LINCS:LSM-37096 NCIt:C44459 PMID:14780843 CAS:79-01-6 PDBeChem:TCV PMID:33930529 PMID:24517489 Wikipedia:Trichloroethylene Gmelin:184631 Drug_Central:3628 PMID:25278505 Reaxys:1736782 PMID:15019957 UM-BBD_compID:c0009 KEGG:C06790 Beilstein:1736782 SNOMEDCT:16808006 PMID:10459493" + "A member of the class of chloroethenes that is ethene substituted by chloro groups at positions 1, 1 and 2." "PMID:8319644 HMDB:HMDB0029593 PMID:16641322 MeSH:D014241 PMID:11280697 LINCS:LSM-37096 NCIt:C44459 PMID:14780843 CAS:79-01-6 PDBeChem:TCV PMID:33930529 PMID:24517489 Wikipedia:Trichloroethylene Gmelin:184631 Drug_Central:3628 PMID:25278505 Reaxys:1736782 PMID:15019957 UM-BBD_compID:c0009 KEGG:C06790 SNOMEDCT:16808006 PMID:10459493" "An arsenite ion resulting from the removal of all three protons from the hydroxy groups of arsenous acid." "Gmelin:25868 CAS:15502-74-6 PDBeChem:AST KEGG:C06697" "A platinum coordination entity that is a commonly used chemothrepeutic drug for treatment of colorectal cancer." "PMID:28654098 PMID:28624791 Gmelin:28892 PMID:15477639 PMID:17347561 PMID:28894576 PMID:18440088 LINCS:LSM-6352 MeSH:C030110 PMID:28924870 SNOMEDCT:395814003 PMID:28398406 PMID:28837658 PMID:28762171 PMID:28186109 PMID:28415810 PMID:28777427 CAS:63121-00-6 Wikipedia:Oxaliplatin PMID:14755010 PMID:11300320 DrugBank:DB00526 PMID:28876454 PMID:28881354 SNOMEDCT:327032007 Reaxys:15700099 PMID:28812173 KEGG:D01790 PMID:28499428 PMID:28505615 PMID:28884286 NCIt:C1181 PMID:28642473 PMID:28800641 PMID:28938919 CAS:61825-94-3 PMID:19138416 PMID:28881481 PMID:28811232 PMID:28695397 PMID:27756654 Gmelin:1046012 PMID:19735649" @@ -27873,7 +27667,6 @@ "A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis." "MESH:C566323 MONDO:0007046 OMIM:101840 DOID:0060360 MEDGEN:350144 UMLS:C1863343" "Endometriosis that affects the intesines." "ICD10CM:N80.5 UMLS:C0156347 icd11.foundation:706777963 MEDGEN:510251 SCTID:5562006 ICD9:617.5 DOID:11428" - "A rare transmissible encephalopathy most prevalent between the ages of 50 and 70 years. Affected individuals may present with sleep disturbances, personality changes, ATAXIA; APHASIA, visual loss, weakness, muscle atrophy, MYOCLONUS, progressive dementia, and death within one year of disease onset. A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) have been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS. (From N Engl J Med, 1998 Dec 31;339(27))." "UMLS:C0022336 SCTID:792004 NCIT:C26802 MESH:D007562 DOID:11949 MONDO:0005357 MEDGEN:7179 NCIt:C26802 NORD:1014 ICD9:046.1 MeSH:D007562 ICD9:046.19" "A sudden CARDIAC ARRHYTHMIA (e.g., VENTRICULAR FIBRILLATION) caused by a blunt, non-penetrating impact to the precordial region of chest wall. Commotio cordis often results in sudden death without prompt cardiopulmonary defibrillation." "MeSH:D056104" @@ -27891,7 +27684,7 @@ "A myocardial infarction that produces elevation in the ST segments of the ECG. [ NCI ]" "NCIt:C101888" "Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low." "UMLS:C0240538" - "An inositol having myo- configuration." "PMID:15558078 PMID:12832083 Wikipedia:Inositol CAS:87-89-8 PMID:11772411 PMID:17722064 PMID:19383710 Gmelin:82918 Drug_Central:1444 PMID:16410747 PMID:14583919 PDBeChem:INS KNApSAcK:C00001164 Reaxys:1907329 KEGG:D08079 PMID:19097871 HMDB:HMDB0000211 KEGG:C00137 MetaCyc:MYO-INOSITOL PMID:838172 PMID:22461977 PMID:12478879 PMID:18650262 PMID:17439666 PMID:15295080 PMID:14681857 PMID:22517104 PMID:1694860 Beilstein:1907329 PMID:18854045 PMID:15181167 PMID:11323092 PMID:11034685 PMID:22285975 DrugBank:DB03106 PMID:11244303" + "An inositol having myo- configuration." "PMID:15558078 PMID:12832083 Wikipedia:Inositol CAS:87-89-8 PMID:11772411 PMID:17722064 PMID:19383710 Gmelin:82918 Drug_Central:1444 PMID:16410747 PMID:14583919 PDBeChem:INS KNApSAcK:C00001164 Reaxys:1907329 KEGG:D08079 PMID:19097871 HMDB:HMDB0000211 KEGG:C00137 MetaCyc:MYO-INOSITOL PMID:838172 PMID:22461977 PMID:12478879 PMID:18650262 PMID:17439666 PMID:15295080 PMID:14681857 PMID:22517104 PMID:1694860 PMID:18854045 PMID:15181167 PMID:11323092 PMID:11034685 PMID:22285975 DrugBank:DB03106 PMID:11244303" "Quantification of sodium/iodide cotransporter in a sample." "PMID:29875488" "A condition characterized by recurring episodes of fluid leaking from capillaries into extra-vascular compartments causing hematocrit to rise precipitously. If not treated, generalized vascular leak can lead to generalized EDEMA; SHOCK; cardiovascular collapse; and MULTIPLE ORGAN FAILURE." "SCTID:87730004 MedDRA:10007196 DOID:14400 GARD:1084 MESH:D019559 UMLS:C0343084 Orphanet:188 SNOMEDCT:87730004 MeSH:D019559 ICD9:448.9 NCIT:C62578 NCIt:C62578 MEDGEN:137987 MONDO:0001956" @@ -27942,7 +27735,7 @@ "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARX gene." "MEDGEN:483052 UMLS:C3463992 DOID:0080468 GARD:15298 OMIM:308350" - "A member of the class of acrylamides that results from the formal condensation of acrylic acid with ammonia." "Gmelin:81842 PMID:19846048 Patent:US2535245 PMID:17032038 Wikipedia:Acrylamide SNOMEDCT:6983000 PMID:17720246 Reaxys:605349 PMID:19022940 MeSH:D020106 UM-BBD_compID:c0149 PMID:22784192 KEGG:C01659 PMID:10719038 PMID:17234719 PMID:17558658 PMID:18469268 CAS:79-06-1 HMDB:HMDB0004296 PMID:12166997 PMID:15240786 PMID:15901921 PMID:17484107 Beilstein:605349 PMID:22136129 PMID:7767980 NCIt:C44329" + "A member of the class of acrylamides that results from the formal condensation of acrylic acid with ammonia." "Gmelin:81842 PMID:19846048 Patent:US2535245 PMID:17032038 Wikipedia:Acrylamide SNOMEDCT:6983000 PMID:17720246 Reaxys:605349 PMID:19022940 MeSH:D020106 UM-BBD_compID:c0149 PMID:22784192 KEGG:C01659 PMID:10719038 PMID:17234719 PMID:17558658 PMID:18469268 CAS:79-06-1 HMDB:HMDB0004296 PMID:12166997 PMID:15240786 PMID:15901921 PMID:17484107 PMID:22136129 PMID:7767980 NCIt:C44329" "The amount of a calcyclin-binding protein when measured in blood serum." "The soft tissue surrounding the neck of individual teeth as well as covering the alveolar bone. The tissue is fibrous and continuous with the periodontal ligament and mucosal covering." "NCIt:C32677 FMA:59762 BTO:0000519" "Tumors or cancer of the bronchi." "MONDO:0002807 MESH:D001984 DOID:3906 MEDGEN:2735 UMLS:C0006264 HP:0030077 MedDRA:10052245 NANDO:2200081 MeSH:D001984 SCTID:126705004" @@ -28014,7 +27807,7 @@ "An Crohn disease involving a pathogenic inflammatory response in the jejunum." "SCTID:91390005 MEDGEN:540631 UMLS:C0267379" "A congenital abnormality in which the meninges protrude through a defect in the spinal column or the cranium." "SCTID:171131006 MESH:D008588 DOID:1088 NCIT:C105595 HP:0002435 UMLS:C0025299 NCIT:C101209 Orphanet:93968 MEDGEN:44356" - "An organosulfonate oxoanion that is the conjugate base of taurocholic acid." "MetaCyc:CPD-3743 Reaxys:3919947 Beilstein:3919947" + "An organosulfonate oxoanion that is the conjugate base of taurocholic acid." "MetaCyc:CPD-3743 Reaxys:3919947" "Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas." "GARD:0001119 NCIT:C4705 UMLS:C0406810 SCTID:733491005 MESH:D056733 Orphanet:1359 DOID:0050471 ICD10:D44.8" "icd11.foundation:1963185163 MEDGEN:365502 SCTID:448794008 GARD:19616 UMLS:C1956412 Orphanet:99045" "The amount of a polyadenylate-binding protein-interacting protein 1 when measured in blood serum." @@ -28063,7 +27856,6 @@ "An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis." "SNOMEDCT_US:253789002 SNOMEDCT_US:29980002 MEDDRA:10064024 UMLS:C0221210 SNOMEDCT_US:48641006" "OMIM:601110 ICD10:E77.8" "The amount of a collagen alpha-2(VI) chain when measured in blood serum." - "a cholesteatoma in the attic" "MEDGEN:509986 ICD9:385.31 SCTID:38708003 MedDRA:10008643 UMLS:C0155489 MONDO:0006531 DOID:10963" "This syndrome is characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity." "MEDGEN:162919 Orphanet:3409 GARD:5426 SCTID:716334004 MESH:C538276 OMIM:264010 UMLS:C0796189" "The amount of a eukaryotic translation initiation factor 4E-binding protein 3 when measured in blood serum." "A rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features." "OMIM:601668 MEDGEN:356550 MESH:C566644 UMLS:C1866507 GARD:17030 Orphanet:168451" @@ -28137,7 +27929,6 @@ "The determination of the amount of cytoplasmic protein NCK1 in a sample" "PMID:28240269" "A primary or metastatic malignant neoplasm affecting the scrotum." "NCIT:C3560 UMLS:C0153604 ICD9:187.7 MEDGEN:57564 SCTID:363454002" "MEDGEN:414541 Orphanet:217023 GARD:18556 UMLS:C2752036 OMIM:612926" - "A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Arenaviridae viruses." "MESH:D001117 ICD9:078.89 DOID:3944 MeSH:D001117 SCTID:3303004 MONDO:0005650" "A phosphatidylcholine 38:4 in which the two acyl substituents at positions 1 and 2 are specified as stearoyl and arachidonoyl respectively." "Reaxys:6090084 HMDB:HMDB0008048 LIPID_MAPS_instance:LMGP01010802" "A development or differentiation study design type assays events associated with development or differentiation or moving through a life cycle. Development applies to organism(s) acquiring a mature state, and differentiation applies to cells acquiring specialized functions." "MO:892" "OMIM:607906 ICD10:E77.8" @@ -28150,7 +27941,7 @@ "GARD:22329 icd11.foundation:437591130 MEDGEN:908476 NANDO:1200193 Orphanet:576379 UMLS:C2349757" "The amount of a beta-2-glycoprotein 1 when measured in blood." "PMID:37794183" - "Inflammation of the GALLBLADDER wall in the absence of GALLSTONES." "SCTID:19968009 MeSH:D042101 DOID:2828 MEDGEN:82762 NCIT:C35578 MONDO:0006633 MESH:D042101 NCIt:C35578 MedDRA:10000347 UMLS:C0267841" + "Inflammation of the GALLBLADDER wall in the absence of GALLSTONES." "MeSH:D042101 SCTID:19968009 DOID:2828 MEDGEN:82762 NCIT:C35578 MONDO:0006633 MESH:D042101 NCIt:C35578 MedDRA:10000347 UMLS:C0267841" "A phyllome (PO:0006001) that is part of the corolla (PO:0009059), and is usually colored (not green)." "The amount of a L-lactate dehydrogenase C chain when measured in blood serum." "Infection with the respiratory syncytial virus, an RNA virus of the genus Pneumovirus, in the family Paramyxoviridae, which is characterized by the formation of syncytia in tissue culture. It causes minor respiratory infection with rhinitis and cough in adults, but is capable of causing severe bronchitis and bronchopneumonia in young children." "UMLS:C0035235 SNOMEDCT:55735004 MEDGEN:48424 MeSH:D018357 MONDO:0001577 DOID:1273 NCIt:C3354 MedDRA:10061603 SCTID:55735004 MESH:D018357 NCIT:C3354" @@ -28191,7 +27982,6 @@ "OMIM:127350" "The amount of a Rho-related GTP-binding protein RhoC when measured in blood serum." "An artery that supplies the myocardium." "CALOHA:TS-0176 Wikipedia:Coronary_circulation#Coronary_anatomy FMA:49893 VHOG:0001557 ZFA:0005812 EV:0100383 EFO:0002551 SCTID:181294004 NCIT:C12843 MA:0002453 galen:CoronaryArtery BTO:0000290 UMLS:C0205042 EMAPA:19160" - "A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process. -- 2003" "MESH:D008659 NCIt:C3235 MONDO:0005066 DOID:0014667 MEDGEN:44376 SNOMEDCT:75934005 ICD9:277.9 ICD10WHO:E70-E90 SCTID:75934005 ICD10CM:E70-E88 NANDO:1100002 NCIT:C3235 MeSH:D008659 UMLS:C0025517 ICD9:277.8" "human plasma cell leukemia cell line established from the peripheral blood of a 36-year-old woman with plasma cell leukemia (IgG) in 1977; cells were described to be EBNA-negative and to express mRNA for proto-oncogene BCL2; plasma cell leukemia is related to multiple myeloma. (DSMZ catalog number ACC 49)" "The determination of the amount of interleukin-22 receptor subunit alpha-1 in a sample" "PMID:28240269" "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" @@ -28211,7 +28001,7 @@ "A spondyloepimetaphyseal dysplasia characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands." "SCTID:719166003 GARD:10611 Orphanet:156728 MEDGEN:325181 UMLS:C1837481 OMIM:608728 icd11.foundation:1983063881 MESH:C563869" "The amount of a protein HEXIM1 when measured in blood." "PMID:37794183" "Acute form of epiglottitis." "MEDGEN:510093 UMLS:C0155814 SCTID:29608009 icd11.foundation:1070805666" - "The parent of the class of 2-acetamidofluorenes, being an ortho-fused polycyclic arene that consists of 9H-fluorene bearing an acetamido substituent at position 2. It is a carcinogenic and mutagenic derivative of fluorene." "KEGG:C02778 Reaxys:2807677 CAS:53-96-3 PMID:21668357 Beilstein:2807677 NCIt:C29791 PMID:17434228 PMID:23536516 MeSH:D015073 KEGG COMPOUND:53-96-3 \"CAS Registry Number\" Reaxys:2807677 \"Reaxys Registry Number\" PMID:22514719 LINCS:LSM-37153 PDBeChem:AFF PMID:15380103 Beilstein:2807677 \"Beilstein Registry Number\" Wikipedia:2-Acetylaminofluorene \"Wikipedia\" PMID:24021430 PMID:21417629 NIST Chemistry WebBook:53-96-3 \"CAS Registry Number\" Wikipedia:2-Acetylaminofluorene ChemIDplus:53-96-3 \"CAS Registry Number\" KEGG COMPOUND:C02778 \"KEGG COMPOUND\" PMID:7151044" + "The parent of the class of 2-acetamidofluorenes, being an ortho-fused polycyclic arene that consists of 9H-fluorene bearing an acetamido substituent at position 2. It is a carcinogenic and mutagenic derivative of fluorene." "KEGG:C02778 Reaxys:2807677 CAS:53-96-3 PMID:21668357 NCIt:C29791 PMID:17434228 PMID:23536516 MeSH:D015073 KEGG COMPOUND:53-96-3 \"CAS Registry Number\" Reaxys:2807677 \"Reaxys Registry Number\" PMID:22514719 LINCS:LSM-37153 PDBeChem:AFF PMID:15380103 Beilstein:2807677 \"Beilstein Registry Number\" Wikipedia:2-Acetylaminofluorene \"Wikipedia\" PMID:24021430 PMID:21417629 NIST Chemistry WebBook:53-96-3 \"CAS Registry Number\" Wikipedia:2-Acetylaminofluorene ChemIDplus:53-96-3 \"CAS Registry Number\" KEGG COMPOUND:C02778 \"KEGG COMPOUND\" PMID:7151044" "Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies." "ICD10:Q87.8 UMLS:C1841853 OMIM:138790" "The amount of a epidermal growth factor receptor kinase substrate 8-like protein 3 when measured in blood serum." @@ -28452,7 +28242,6 @@ "A secretory organelle found in blood platelets, which is unique in that it exhibits further compartmentalization and acquires its protein content via two distinct mechanisms: (1) biosynthesis predominantly at the megakaryocyte (MK) level (with some vestigial platelet synthesis) (e.g. platelet factor 4) and (2) endocytosis and pinocytosis at both the MK and circulating platelet levels (e.g. fibrinogen (Fg) and IgG)." "Wikipedia:Platelet_alpha-granule" "The amount of a ATP-dependent DNA helicase Q1 when measured in blood serum." "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytosine arabinoside stimulus. Cytosine arabinoside is a cytidine analogue used as a drug in the treatment of various carcinomas." - "A condition characterized by the thickening of the ventricular ENDOCARDIUM and subendocardium (MYOCARDIUM), seen mostly in children and young adults in the TROPICAL CLIMATE. The fibrous tissue extends from the apex toward and often involves the HEART VALVES causing restrictive blood flow into the respective ventricles (CARDIOMYOPATHY, RESTRICTIVE)." "UMLS:C0553980 MEDGEN:107513 MeSH:D004719 MESH:D004719 MedDRA:10014800 SNOMEDCT:398716006 icd11.foundation:365224859 ICD9:425.0 NORD:1092 NCIT:C34585 NCIt:C34585 DOID:12932 MONDO:0006746 GARD:6340" @@ -28514,7 +28303,7 @@ "Quantification of the amount of perfluorooctanoate (PFOA) in a sample." "PMID:35347128" "Structural epilepsies are conceptualized as having a distinct structural brain abnormality that has been demonstrated to be associated with a substantially increased risk of epilepsy in appropriately designed studies. The structural brain abnormality can be acquired (such as due to stroke, trauma or infection) or may be of genetic origin; however, as we currently understand it, the structural brain abnormality is a separate disorder interposed between the acquired or genetic defect and the epilepsy." "MEDGEN:1843494 UMLS:C4524097" "Annular pancreas is a distinct form of duodenal atresia in which the head of the pancreas forms a ring around the second portion of the duodenum." "MESH:C536376 MEDGEN:56211 icd11.foundation:1311285827 Orphanet:675 DOID:0060850 NCIT:C98813 GARD:705 MedDRA:10071757 ICD10CM:Q45.1 OMIM:167750 UMLS:C0149955 SCTID:40315008" - "A parotid disease characterized by the inflammation of one or both parotid glands." "MEDGEN:45335 MeSH:D010309 SCTID:14756005 MedDRA:10034038 MESH:D010309 NCIT:C114281 UMLS:C0030583 MONDO:0005900 DOID:10301" + "A parotid disease characterized by the inflammation of one or both parotid glands." "SCTID:14756005 MEDGEN:45335 MeSH:D010309 MedDRA:10034038 MESH:D010309 NCIT:C114281 UMLS:C0030583 MONDO:0005900 DOID:10301" "The determination of the amount of testican-2 in a sample" "PMID:28240269" "Organism subdivision which is the part of the body posterior to the head and anterior to the tail." "SAEL:112 MFO:0001720 NIFSTD:sao1078172392 FMA:7181 BTO:0001493 TAO:0001115 MAT:0000296 XAO:0003025" "An invasive prostate carcinoma characterized by the presence of squamous differentiation of the malignant cellular infiltrate. There is no evidence of glandular differentiation." "MEDGEN:226996 ONCOTREE:PRSC SCTID:399590005 UMLS:C1302530 DOID:10287 NCIT:C5536" @@ -28576,7 +28365,6 @@ "Organ of metabolic interchange between fetus and mother, partly of embryonic origin and partly of maternal origin[GO]. The fetal portion of the placenta is known as the villous chorion. The maternal portion is known as the decidua basalis. The two portions are held together by anchoring villi that are anchored to the decidua basalis by the cytotrophoblastic shell." "Wikipedia:Placenta NCIT:C13272 MAT:0000279 VHOG:0001266 UMLS:C0032043 EV:0100119 MA:0000386 SCTID:181455002 BTO:0001078 MIAA:0000279 MESH:D010920 FMA:63934 GAID:379 CALOHA:TS-0799 EFO:0001407 EMAPA:35689" "UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" "OMIM:613796" - "Infestation with parasitic worms of the helminth class." "UMLS:C0018889 SNOMEDCT:27601005 MEDGEN:6765 MESH:D006373 ICD10:B66 MONDO:0004664 ICD10:B83 ICD10CM:B65-B83 MeSH:D006373 ICD9:120-129.99 SCTID:27601005 NCIt:C84751 NCIT:C84751 ICD9:128.8 ICD9:128.9 DOID:883" "A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as will as in fasting and postprandial serum insulin levels." "UMLS:C0854110" "Arabidopsis thaliana ecotype of geographical location Blackmount, UK" @@ -28605,7 +28393,7 @@ "Heart failure caused by abnormal myocardial contraction during systole leading to defective cardiac emptying." "MeSH:D054143 MONDO:0006993 SNOMEDCT:417996009 ICD9:428.2 MEDGEN:210050 UMLS:C1135191 ICD10:I50.2 MedDRA:10074631 ICD9:428.20 DOID:9651 SCTID:417996009 MESH:D054143" "The amount of a UL16-binding protein 1 when measured in blood serum." "OMIM:618155 UMLS:C4748418 MEDGEN:1648445" - "A member of the class of indole-3-acetic acids that is indole-3-acetic acid substituted by a hydroxy group at C-5." "KNApSAcK:C00000104 Wikipedia:5-Hydroxyindoleacetic_acid Reaxys:168797 PMID:11113939 CAS:54-16-0 HMDB:HMDB0000763 KEGG:C05635 PMID:11063613 PMID:22770225 Beilstein:168797 MetaCyc:5-HYDROXYINDOLE_ACETATE" + "A member of the class of indole-3-acetic acids that is indole-3-acetic acid substituted by a hydroxy group at C-5." "KNApSAcK:C00000104 Wikipedia:5-Hydroxyindoleacetic_acid Reaxys:168797 PMID:11113939 CAS:54-16-0 HMDB:HMDB0000763 KEGG:C05635 PMID:11063613 PMID:22770225 MetaCyc:5-HYDROXYINDOLE_ACETATE" "Quantification of the amount of vanillic acid glycine in a sample." "PMID:35347128" "A dipeptide composed of L-glutamic acid and L-tyrosine joined by a peptide linkage." "PMID:24498130 PMID:1263081 HMDB:HMDB0011741 PMID:7791632" "Mus musculus (mouse) brain; neuroblast; neuroblastoma cell line. The N1E-115 cell line was established in 1971 by T. Amano, E. Richelson, and M. Nirenberg by cloning the C-1300 spontaneous mouse neuroblastoma tumor, C-1300" "CLO:0007922 RRID:CVCL_0451 BTO:0001909" @@ -28641,7 +28429,6 @@ "OMIM:613759" "A type of anemia resulting from suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production. Erythroblasts are virtually absent in bone marrow; however, leukocyte and platelet production show little or no reduction." "UMLS:C0034902 SNOMEDCT_US:50715003" "The amount of a ribonuclease-like protein 13 when measured in blood serum." - "Defective development of the THYROID GLAND. This concept includes thyroid agenesis (aplasia), hypoplasia, or an ectopic gland. Clinical signs usually are those of CONGENITAL HYPOTHYROIDISM." "MeSH:D050033 icd11.foundation:1827568994 ICD10:E03.4 UMLS:C2981141 NCIT:C26942 SCTID:190309006 MedDRA:10043693 MONDO:0006666 ICD9:246.8 DOID:2853 MEDGEN:453383" "The amount of a fructose-1,6-bisphosphatase 1 when measured in blood serum." "DOID:3117" @@ -28664,7 +28451,7 @@ - "An optically active form of malate having (S)-configuration." "Beilstein:4133558 Reaxys:4133558 MetaCyc:MAL KEGG:C00149" + "An optically active form of malate having (S)-configuration." "Reaxys:4133558 MetaCyc:MAL KEGG:C00149" "The amount of a macrophage receptor MARCO when measured in blood." "PMID:37794183" "Quantification of the amount of X-13431--nonanoylcarnitine in a sample." "PMID:24816252" "A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus." "UMLS:C0678230" @@ -28709,7 +28496,6 @@ "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a sulfonyurea stimulus. Sulfonylureas are a class of organic compounds used in medicine and agriculture. They are antidiabetic drugs widely used in the management of diabetes mellitus type." "A tumor of meningothelial cells that are manifested in the central nervous system and arise from the arachnoid \"cap\" cells of the arachnoid villi in the meninges." "MeSH:D008579 DOID:3565" "Quantification of leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3 in a sample." "PMID:29875488" - "An acute, febrile, mucocutaneous condition accompanied by swelling of cervical lymph nodes in infants and young children. The principal symptoms are fever, congestion of the ocular conjunctivae, reddening of the lips and oral cavity, protuberance of tongue papillae, and edema or erythema of the extremities." "MONDO:0012727 UMLS:C0026691 MeSH:D009080 MedDRA:10028083 MESH:D009080 NCIt:C34825 ICD9:446.1 icd11.foundation:540285662 MedDRA:10023320 NCIT:C34825 GARD:6816 OMIM:611775 MEDGEN:10118 Orphanet:2331 SCTID:75053002 DOID:13378" "A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the N4 atom of peptidyl-asparagine, the omega-N of arginine, or the N1' atom peptidyl-tryptophan." "RESID:AA0156 RESID:AA0327 RESID:AA0151" "Human embryonic stem cell line derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, NANOG, and TRA-1-60. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." @@ -28773,7 +28559,6 @@ "quantification of some aspect of mental development, including cognition, expressive language and receptive language" "Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies." "GARD:8416 MESH:C537068 Orphanet:398166 OMIMPS:136500 icd11.foundation:1200544726 UMLS:C2936827 MEDGEN:445408" "A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern." "DOID:628 UMLS:C2711630 icd11.foundation:1616506198 NCIT:C27871 MEDGEN:751396 NANDO:2100203 Orphanet:101972 ICD9:279.2 GARD:19806 DOID:0111962" - "An acute or chronic inflammatory process affecting the middle ear." "ICD9:382.9 MeSH:D010033 HP:0000388 SNOMEDCT:65363002 NCIt:C34885 SCTID:65363002 MEDGEN:45253 NCIT:C34885 DOID:10754 icd11.foundation:1079654421 MESH:D010033 UMLS:C0029882 MONDO:0005441 MedDRA:10033078" "NCIT:C168733 DOID:0080676 UMLS:C2020284 NANDO:2201354 Orphanet:90653 MEDGEN:810955 OMIM:108300 GARD:5018 icd11.foundation:203625278 MESH:C537492" "The functioning kidney in fish and amphibia" "ZFA:0000529 TAO:0000529 MFO:0003300 BTO:0001542 XAO:0000154 MAT:0000118" @@ -28786,7 +28571,6 @@ "The amount of a profilin-2 when measured in blood serum." "Quantification of aldose reductase in a sample." "PMID:29875488" - "An interstitial lung disease of unknown etiology, occurring between 21-80 years of age. It is characterized by a dramatic onset of a \"pneumonia-like\" illness with cough, fever, malaise, fatigue, and weight loss. Pathological features include prominent interstitial inflammation without collagen fibrosis, diffuse fibroblastic foci, and no microscopic honeycomb change. There is excessive proliferation of granulation tissue within small airways and alveolar ducts." "MESH:D018549 NCIT:C62586 UMLS:C0242770 NCIt:C62586 Orphanet:1302 ICD10CM:J84.116 ICD10:J84.116 MONDO:0015264 GARD:1620 icd11.foundation:1937662238 MeSH:D018549 MEDGEN:116663 NORD:873 ICD9:516.36 MedDRA:10011496 DOID:0050157 SCTID:719218000 DOID:2798 SCTID:68409003 NANDO:1200421" "This very rare form of angioedema develops in reply to contact with vibration. In vibratory angioedema, symptoms develop within two to five minutes after contact with vibration and dissolve after about an hour. Patients with this disorder do not suffer from dermographism or pressure urticaria. Vibratory angioedema is diagnosed by holding a vibrating device such as a laboratory vortex machine against the forearm for four minutes. Speedy swelling of the whole forearm extending into the upper arm is also noted later. The principal treatment is avoidance of vibratory stimulants. Antihistamines have also been proven helpful." "MONDO:0006618 SCTID:51247001 OMIM:125630 MedDRA:10047396 ICD9:708.4 UMLS:C0157743 DOID:1554 ICD10CM:L50.4 MEDGEN:510413 Wikipedia:Urticaria#Vibratory_angioedema" "MeSH:D002938" @@ -28800,7 +28584,7 @@ "The amount of a 60S ribosome subunit biogenesis protein NIP7 when measured in blood serum." "A carcinoma that arises from the gallbladder. It is composed entirely by malignant squamous epithelial cells." "MEDGEN:83539 DOID:5535 UMLS:C0279658 MONDO:0006220 EFO:1000267 NCIT:C9170" - "A nitroarene that is fluorene substituted by a nitro group at position 2." "Reaxys:1877983 PMID:10366768 Wikipedia:2-Nitrofluorene LINCS:LSM-37230 CAS:607-57-8 Beilstein:1877983 KEGG:C10923 PMID:23128813" + "A nitroarene that is fluorene substituted by a nitro group at position 2." "Reaxys:1877983 PMID:10366768 Wikipedia:2-Nitrofluorene LINCS:LSM-37230 CAS:607-57-8 KEGG:C10923 PMID:23128813" "Any skeletal muscle that is part of the head region." "MA:0000578 BTO:0000021 ZFA:0001652 EFO:0003524 EHDAA2:0000322 AAO:0000107 FMA:9616 EMAPA:18172 SCTID:244718003" "Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy." "MESH:D017696 Orphanet:607 UMLS:C0206157 icd11.foundation:1996502540 DOID:3191 OMIMPS:161800 NANDO:1200478 NANDO:2200869 SCTID:75072002 MEDGEN:61528 GARD:12033" @@ -28867,7 +28651,6 @@ "Quantification of the amount of adrenate 22:4n6 in a sample." "PMID:24816252" "Quantification of erythrocyte band 7 integral membrane protein in a sample." "PMID:29875488" - "An acute, short-lived, viral disease of infants and young children characterized by a high fever at onset that drops to normal after 3-4 days and the concomitant appearance of a macular or maculopapular rash that appears first on the trunk and then spreads to other areas. It is the sixth of the classical exanthematous diseases and is caused by HHV-6; (HERPESVIRUS 6, HUMAN). (From Dorland, 27th ed)" "ICD9:058.1 UMLS:C0015231 SNOMEDCT:54385001 SCTID:54385001 MeSH:D005077 ICD10:B08.2 NCIT:C128420 MEDGEN:41909 DOID:0050495 MONDO:0000337 MESH:D005077 ICD9:058.10 MedDRA:10015586 ICD9:057.8" "quantification of the amount of ST2 protein in a sample" "PMID:28915241" "Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism." "GARD:2838 OMIM:239200 SCTID:715218009 UMLS:C1832615 Orphanet:417 MEDGEN:331326 icd11.foundation:1929875111 MESH:C563375 NCIT:C131853" "The age at which osteoarthritis manifestations first appear." @@ -28932,7 +28715,6 @@ "A measure of the thickness of one or more layers of the retina. It is measured with various imaging tools including ultrasound, optical coherence tomography (OCT), confocal microscopy, and biometry. Reduced retinal layer thickness is one of the biomarkers used for the diagnosis of glaucoma." "PMID:33979322" "Esophageal lesion lined with columnar metaplastic epithelium which is flat or villiform. Barrett epithelium is characterized by two different types of cells: goblet cells and columnar cells. The symptomatology of Barrett esophagus is that of gastro-esophageal reflux. It is the precursor of most esophageal adenocarcinomas. (WHO)" "NCIT:C2891 DOID:9206 ICD9:530.85 MedDRA:10004134 SNOMEDCT:302914006 MEDGEN:2551 SCTID:196609006 OMIM:614266 MeSH:D001471 UMLS:C0004763 Orphanet:1232 MONDO:0013662 MESH:D001471 NCIt:C2891" "A rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response." "ICD9:708.8 MESH:D019873 MEDGEN:141892 SCTID:402415001 UMLS:C0524988 GARD:12390 MeSH:D019873 Orphanet:37748 DOID:4371 MONDO:0018304 NORD:1696 icd11.foundation:1867840545 SNOMEDCT:402415001 MedDRA:10062908" - "A disorder characterized by recurrent seizures" "MESH:D004827 MONDO:0005027 ICD10WHO:G40 UMLS:C0014544 ICD9:345.80 ICD9:345.8 DOID:1826 ICD10:G40 MedDRA:10015048 SCTID:84757009 MedDRA:10015052 NIFSTD:birnlex_12718 NCIt:C3020 ICD9:345 ICD9:345.9 MedDRA:10015037 MedDRA:10015046 SNOMEDCT:84757009 NCIT:C3020 MeSH:D004827 ICD10CM:G40 ICD9:345.91 ICD9:345.90 MedDRA:10015047 MEDGEN:4506" "A primary malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. This category includes carcinosarcoma, carcinofibroma, and adenosarcoma." "UMLS:C1334628 NCIT:C6311 MEDGEN:233163 DOID:4114" "A hemangioma arising from the spleen." "SCTID:93472004 NCIT:C8541 UMLS:C0685201 MEDGEN:151930 DOID:256" @@ -28962,7 +28744,6 @@ "UMLS:C5679679 GARD:17250 Orphanet:261600 MEDGEN:1826025" "Disorder characterized by a decrease or lack of platelet dense bodies in which the releasable pool of adenine nucleotides and 5HT are normally stored." "SCTID:234474009 OMIM:185050 MedDRA:10084190 MONDO:0008495 MEDGEN:19351 SNOMEDCT:128099001 DOID:2223 MeSH:D010981 GARD:5034 Orphanet:734 MESH:D010981 UMLS:C0032197" "The chemical reactions and pathways involving pyridoxine, 2-methyl-3-hydroxy-4,5-bis(hydroxymethyl)pyridine, one of the vitamin B6 compounds. Pyridoxal, pyridoxamine and pyridoxine are collectively known as vitamin B6, and are efficiently converted to the biologically active form of vitamin B6, pyridoxal phosphate." - "VASCULAR DISEASES that are associated with DIABETES MELLITUS." "ICD9:443.81 MESH:D003925 MONDO:0000960 MeSH:D003925 DOID:11713 ICD9:250.7 SNOMEDCT:127014009 DOID:10182 NCIT:C35610 MEDGEN:507633 UMLS:C0011871 SCTID:127014009" "Multi-stage repli-seq is a type of repli-seq assay that compares nascent DNA sequencing profiles of many different replication time points." "The amount of a transient receptor potential cation channel TRPV3 when measured in blood." "PMID:37794183" @@ -29121,7 +28902,6 @@ "Quantification of phosphatidylcholine acyl-alkyl C32:1 measurement in a sample." "PMID:26068415" "An array substrate coating formed using aminosilane." "MO:747" - "Death of cells in the KIDNEY CORTEX, a common final result of various renal injuries including HYPOXIA; ISCHEMIA; and drug toxicity." "SCTID:444691002 ICD9:583.6 MedDRA:10023414 MESH:D007673 MONDO:0006820 MEDGEN:9634 UMLS:C0022656 MeSH:D007673 DOID:2973" "MEDGEN:722059 GARD:16304 OMIM:618188 UMLS:C1300287" "Quantification of the change in diglyceride levels in an individual over time, e.g. over the course of several hours after a high-fat meal." "PMID:34610981" "A syndrome characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck. There is no muscle atrophy and muscle biopsies do not reveal pathologic changes. Additional signs and symptoms include low grade fever, fatigue and depression." "MedDRA:10068240 NCIT:C85018 MONDO:0019735 MESH:D011111 MEDGEN:19393 GARD:4704 icd11.foundation:103940897 MedDRA:10036099 NCIt:C85018 MeSH:D011111 NORD:1593 ICD9:725 Orphanet:93569 ICD10:M35.3 SCTID:65323003 UMLS:C0032533 DOID:853 SNOMEDCT:65323003" @@ -29156,7 +28936,6 @@ "Fluoride toxicity is characterized by a variety of signs and symptoms. In the United States, poisoning most commonly follows ingestion (accidental or intentional) of fluoride-containing products. Symptom onset usually occurs within minutes of exposure, but may be delayed. Manifestations of fluoride toxicity are predominantly gastrointestinal (GI), but neurologic and cardiovascular effects also occur (see Presentation). Long-term exposure to fluoride through elevated levels in drinking water leads to skeletal and dental fluorosis." "Wikipedia:Fluoride_toxicity MeSH:D005458" - "The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation." "MeSH:Q000378 Wikipedia:Metabolism NCIt:C19536 GO:0008152 MeSH:D008660" "a genetic transformation that involves the insertion of a protein coding cDNA sequence at a particular locus in an organism's chromosome. Typically, this is done in mice since the technology for this process is more refined, and because mouse embryonic stem cells are easily manipulated. The difference between knock-in technology and transgenic technology is that a knock-in involves a gene inserted into a specific locus, and is a \"targeted\" insertion." "L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy." "SCTID:702440000 NANDO:2201299 ICD9:270.8 GARD:10323 MEDGEN:436367 UMLS:C2675179 OMIM:612718 MESH:C567192 NANDO:1201033 Orphanet:35704 DOID:0050712" @@ -29179,7 +28958,7 @@ "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an angiotensin receptor blocker." "GAZ:00002943" "A cognitive disorder a disturbance in which the person's mood is hypothesized to be the main underlying feature." "SCTID:46206005 NCIt:C92200 MONDO:0005371 UMLS:C0525045 MedDRA:10079614 ICD10CM:F30-F39 ICD9:296.99 MEDGEN:99866 MeSH:D019964 ICD10:F38 SNOMEDCT:46206005 DOID:3324 MESH:D019964 NCIT:C92200" - "A monocarboxylic acid amide that is butanamide substituted by a diisopropylamino group at position 4, a phenyl group at position 2 and a pyridin-2-yl group at position 2. It is used as a anti-arrhythmia drug." "Beilstein:492056 Reaxys:492056 CAS:3737-09-5 Patent:US3225054 LINCS:LSM-1439 KEGG:C06965 Drug_Central:926 KEGG:D00303 PMID:16842817 DrugBank:DB00280 Wikipedia:Disopyramide Patent:BE617730 PMID:24502246" + "A monocarboxylic acid amide that is butanamide substituted by a diisopropylamino group at position 4, a phenyl group at position 2 and a pyridin-2-yl group at position 2. It is used as a anti-arrhythmia drug." "Reaxys:492056 CAS:3737-09-5 Patent:US3225054 LINCS:LSM-1439 KEGG:C06965 Drug_Central:926 KEGG:D00303 PMID:16842817 DrugBank:DB00280 Wikipedia:Disopyramide Patent:BE617730 PMID:24502246" "The amount of a U6 snRNA-associated Sm-like protein LSm3 when measured in blood serum." "The amount of a Phosphatidylinositol (18:0_18:2) when measured in blood serum." @@ -29209,7 +28988,7 @@ "An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities." "UMLS:C4025797" "Human acute myeloid leukemia established from the peripheral blood of a 35-year-old woman with acute myeloid leukemia (AML FAB M2) in 1976." "BTO:0000738 RRID:CVCL_0002 NCIt:C19433 CLO:0003775" "GARD:19606 icd11.foundation:1595154985 DOID:0111720 UMLS:C0152454 MEDGEN:509041 Orphanet:98948" - "A parasympathetic ganglion located in the posterior orbit that contains preganglionic nerves and postganglionic neurons of the oculomotor nerve, connects to the Edinger-Westphal nucleus via the oculomotor nerve and the eye muscles via the short ciliary nerve." "BAMS:GcIII VHOG:0000805 EHDAA2:0000251 Wikipedia:Ciliary_ganglion NLXANAT:100304 EMAPA:18222 EFO:0002559 EHDAA:5623 SCTID:279281007 MA:0001136 FMA:6964" + "A parasympathetic ganglion located in the posterior orbit that contains preganglionic nerves and postganglionic neurons of the oculomotor nerve, connects to the Edinger-Westphal nucleus via the oculomotor nerve and the eye muscles via the short ciliary nerve." "BAMS:GcIII VHOG:0000805 EHDAA2:0000251 Wikipedia:Ciliary_ganglion NLXANAT:100304 EMAPA:18222 EFO:0002559 EHDAA:5623 MA:0001136 SCTID:279281007 FMA:6964" "A syndrome characterized by retropatellar or peripatellar pain resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) chondromalacia patellae, the latter describing a pathological condition of the cartilage and not a syndrome." "SNOMEDCT:430725003 MONDO:0006894 UMLS:C0877149 MEDGEN:164080 SCTID:430725003 MESH:D046788 MeSH:D046788 MedDRA:10049143 DOID:14284" "The amount of a EH domain-containing protein 3 when measured in blood serum." @@ -29301,7 +29080,6 @@ "The ratio between the levels of aspartate aminotransferase (AST) and alanine aminotransferase (ALT)." "PMID:33004991" - "A trichostrongyloidiasis that involves parasitic infection of the ruminant abomasum by nematodes of the genus Haemonchus resulting in anemia, dehydration, diarrhea and accumulation of fluid in the abdomen, gut wall, thoracic cavity and submandibular tissue." "DOID:3332 MEDGEN:42320 MeSH:D006188 MESH:D006188 MONDO:0005778 UMLS:C0018477" "UMLS:C0854699 OMIM:190330 MEDGEN:163139" "A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile." "NCIt:C6357" @@ -29335,7 +29113,7 @@ "Quantification of suprabasin in a sample." "PMID:29875488" "A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence." "ICD10:F31 OMIM:612371 SNOMEDCT:13746004 ICD9:296.80 DOID:3312 NCIt:C34423 NIFSTD:birnlex_12754 MedDRA:10057667 OMIM:612357 MeSH:D001714" - "A naphthylacetic acid substituted by a carboxymethyl group at position 1." "Reaxys:1308415 KEGG:D01558 PMID:24690897 CAS:86-87-3 Beilstein:1308415 Gmelin:2062516 PMID:24272685 PPDB:1330 KEGG:C13014 PDBeChem:NLA DrugBank:DB01750 Wikipedia:1-Naphthaleneacetic_acid BPDB:1330 MeSH:C034182" + "A naphthylacetic acid substituted by a carboxymethyl group at position 1." "PMID:24690897 Gmelin:2062516 PDBeChem:NLA KEGG:C13014 KEGG:D01558 BPDB:1330 Wikipedia:1-Naphthaleneacetic_acid PPDB:1330 PMID:24272685 CAS:86-87-3 Reaxys:1308415 MeSH:C034182 DrugBank:DB01750" "A mucinous cystadenocarcinoma that involves the pancreas." "DOID:7234 NCIT:C5713 MEDGEN:1433902 UMLS:C2063873" "The amount of a junctophilin-4 when measured in blood serum." "45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development." "NANDO:2200388 DOID:0080656 NCIT:C120199 GARD:18747 Orphanet:1772" @@ -29426,7 +29204,7 @@ "An abnormality of the genital system." "UMLS:C0744356 UMLS:C0281966" "The amount of a appetite-regulating hormone when measured in blood serum." - "A racemate comprising equimolar amounts of (R)-adrenaline and (S)-adrenaline." "Reaxys:2212160 Gmelin:51559 Drug_Central:4508 LINCS:LSM-4958 CAS:329-65-7 PMID:24252294 PMID:24719616 PMID:10052027 Beilstein:2212160" + "A racemate comprising equimolar amounts of (R)-adrenaline and (S)-adrenaline." "Reaxys:2212160 Gmelin:51559 Drug_Central:4508 LINCS:LSM-4958 CAS:329-65-7 PMID:24252294 PMID:24719616 PMID:10052027" "Quantification of janus kinase and microtubule-interacting protein 3 in a sample." "PMID:29875488" "The determination of the amount of C-type lectin domain family 7 memberA in a sample" "PMID:28240269" "A non-neoplastic or neoplastic disorder that affects the pharynx. Representative examples include pharyngitis and carcinoma." "SCTID:75860007 UMLS:C0031345 MEDGEN:10691 NCIT:C26850" @@ -29503,7 +29281,7 @@ "Cellular accumulation of GM2 gangliosides." "UMLS:C1848920" "A congenital disorder characterized by the presence of an abnormal communication between the atria or the ventricles of the heart due to defects in the cardiac septum." "NCIT:C84482 MESH:D006343 UMLS:C0018816 SCTID:253273004 MEDGEN:6752 ICD9:745.8 ICD9:745.9 DOID:1681" "BTO:0001570 CLO:0007641 RRID:CVCL_0419 NCIt:C117224" - "Membrane organ that surrounds the brain and the spinal cord." "UMLS:C0025285 NLXANAT:090204 MA:0001113 BTO:0000144 ZFA:0001355 NCIT:C12348 MAT:0000113 Wikipedia:Meninx TAO:0001355 EMAPA:32660 EFO:0000867 GAID:687 FMA:9589 CALOHA:TS-1177 VHOG:0001295 MESH:D008578" + "Membrane organ that surrounds the brain and the spinal cord." "UMLS:C0025285 NLXANAT:090204 MA:0001113 BTO:0000144 ZFA:0001355 NCIT:C12348 MAT:0000113 Wikipedia:Meninx TAO:0001355 EMAPA:32660 EFO:0000867 GAID:687 VHOG:0001295 FMA:9589 CALOHA:TS-1177 MESH:D008578" "human pancreatic adenocarcinoma cell line derived from an ascites sample taken from a 66 year old Japanese male with a poorly differentiated pancreatic adenocarcinoma (Sigma catlaog number 93121055)" "CS57743 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158767&type=germplasm" @@ -29554,11 +29332,10 @@ "Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system." "icd11.foundation:675690362 MEDGEN:56290 GARD:10504 SCTID:32219008 NCIT:C98907 HP:0030770 Orphanet:63260 MedDRA:10011321 ICD9:740.1 UMLS:C0152426" "NCIt:C821" "Quantification of the amount of appetite-regulating hormone measurement in a sample." "PMID:36168886" - "A nanomole is a substance unit equal to one thousandth of one millionth of a mole or 10^-9 mol." "SNOMEDCT:258720002 NCIt:C48517 MO:743" "Quantification of membrane-associated progesterone receptor component 1 in a sample." "PMID:29875488" - "A sphing-4-enine in which the double bond is trans." "PMID:8482346 HMDB:HMDB0000252 PMID:16341241 KEGG:C00319 CAS:123-78-4 PMID:24731183 Beilstein:4676153 PMID:10453988 DrugBank:DB03203 Beilstein:1727294 PDBeChem:SQS Reaxys:1727294 LIPID_MAPS_instance:LMSP01010001" + "A sphing-4-enine in which the double bond is trans." "PMID:8482346 HMDB:HMDB0000252 PMID:16341241 KEGG:C00319 CAS:123-78-4 PMID:24731183 Beilstein:4676153 PMID:10453988 DrugBank:DB03203 PDBeChem:SQS Reaxys:1727294 LIPID_MAPS_instance:LMSP01010001" "The amount of a eukaryotic-type phenylalanine--tRNA ligase alpha subunit when measured in blood." "PMID:37794183" "Human Synovial Sarcoma cell line expressing SYT-SSX2 fusion protein." "RRID:CVCL_D880" "Quantification of lysophosphatidylcholine 20:1 in a sample." "PMID:35668104" @@ -29624,7 +29401,6 @@ "The amount of a carboxypeptidase A2 when measured in blood serum." "A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM)." "UMLS:C4511091 MEDGEN:1379275 Orphanet:319569" "Quantification of fas apoptotic inhibitory molecule 3 in a sample." "PMID:29875488" - "An actinomycosis that involves invasion and infiltration located_in head and located_in neck, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of abscesses following oral surgery or in patients with poor dental hygiene." "ICD10CM:A42.2 MEDGEN:1308 SCTID:23014006 icd11.foundation:185601767 UMLS:C0001264 MESH:D000197 ICD9:039.3 MONDO:0005699 MeSH:D000197 NCIT:C34351 DOID:12633" "NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" "Stage 0 includes: (Tis, N0, M0). Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.) - 2003" "DOID:8991 NCIT:C4000 ICD9:233.1 UMLS:C0851140 MESH:D018290 SCTID:254889004 MEDGEN:163094" "The amount of a coatomer subunit epsilon when measured in blood serum." @@ -29692,7 +29468,6 @@ "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" - "An extrapulmonary tuberculosis that results in formation of lesions located_in bone." "UMLS:C0041324 ICD9:015.9 MeSH:D014394 SCTID:17653001 MONDO:0005962 ICD9:015 MEDGEN:21727 DOID:1639 MESH:D014394" "A usually aggressive malignant neoplasm arising from the uterine corpus and less often the cervix. It is characterized by the presence of two components: a malignant epithelial component and a sarcomatous component. In the uterine corpus the epithelial component is usually glandular whereas in the cervix is usually non-glandular. Carcinosarcoma of the cervix, although it is aggressive, it may have a better prognosis compared to the uterine corpus carcinosarcoma." "EFO:1000613 ONCOTREE:UCS DOID:6171 MEDGEN:83678 MESH:D012192 UMLS:C0280630 NCIT:C42700 MONDO:0006485 SCTID:702369008" "The amount of a acrosomal protein SP-10 when measured in blood." "PMID:37794183" "Patent:US2954384 Drug_Central:3201 Patent:GB795750 PDBeChem:KAI KEGG:C12819 CAS:487-79-6 Beilstein:86660 Patent:US2902492 MeSH:D007608 NCIt:C79132" @@ -29704,7 +29479,7 @@ "Carpal Tunnel Syndrome (CTS) is an entrapment idiopathic median neuropathy, causing paresthesia, pain, and other symptoms in the distribution of the median nerve due to its compression at the wrist in the carpal tunnel." "SNOMEDCT:57406009 MEDGEN:2856 ICD9:354.0 DOID:12169 ICD10:S64 OMIMPS:115430 OMIM:613353 Orphanet:50838 MONDO:0007275 MeSH:D002349 MedDRA:10007697 SCTID:57406009 OMIM:115430 NCIT:C34450 ICD10CM:G56.0 UMLS:C0007286 icd11.foundation:1275186848 MESH:D002349 NCIt:C34450 ICD10:S54" "A carcinoma arising from the ovary. It is characterized by the presence of malignant epithelial cells with clear cytoplasm in a fibrotic stroma." "DOID:6554 ICDO:8313/3 UMLS:C2075522 NCIT:C40079 MEDGEN:384483" "A onchocerciasis that involves parasitic infection of the eye by the larvae of Onchocerca volvulus. The microfilariae migrate to the surface of the cornea. Punctate keratitis occurs in the infected area. In severe infection, sclerosing keratitis occurs, making the affected area become opaque leading to blindness." "NCIT:C34862 SCTID:240842000 MeSH:D015827 UMLS:C0029002 MEDGEN:45196 MONDO:0005878 MESH:D015827 DOID:11680" - "A trimethylxanthine in which the three methyl groups are located at positions 1, 3, and 7. A purine alkaloid that occurs naturally in tea and coffee." "CAS:58-08-2 PMID:9218278 PMID:11209966 PMID:9063686 PMID:24039592 Reaxys:17705 PMID:20164568 PMID:23551936 PMID:22114686 PMID:18068204 PMID:16644114 PMID:10924888 PMID:15257305 PMID:19418355 PMID:16709440 SNOMEDCT:91107009 PMID:18258404 PMID:11022879 PMID:11410911 PMID:17508167 PMID:11815511 LINCS:LSM-2026 Beilstein:17705 PMID:19088793 PMID:17387608 MetaCyc:1-3-7-TRIMETHYLXANTHINE PMID:15718055 PMID:12943586 KEGG:C07481 PMID:10884512 PMID:10796597 PMID:7441110 PDBeChem:CFF PMID:15681408 PMID:15280431 PMID:10822912 PMID:7689104 PMID:11431501 PMID:17132260 PMID:18647558 PMID:8679661 MeSH:D002110 PMID:15840517 PMID:9132918 PMID:11312039 PMID:17932622 PMID:16528931 PMID:11949272 PMID:9067318 PMID:17724925 PMID:19047957 PMID:16143823 PMID:19879252 PMID:16391865 PMID:14607010 PMID:19084078 PMID:18513215 PMID:12397877 Wikipedia:Caffeine PMID:19007524 KNApSAcK:C00001492 Drug_Central:463 KEGG:D00528 PMID:11014293 PMID:14521986 PMID:22770225 NCIt:C328 PMID:18625110 PMID:12915014 PMID:18421070 PMID:10803761 PMID:17957400 PMID:20470411 PMID:16856769 Gmelin:103040 PMID:10983026 PMID:12457274 PMID:12574990 SNOMEDCT:255641001 PMID:8347173 PMID:16805851 DrugBank:DB00201 PMID:8332255 PMID:10510174 HMDB:HMDB0001847" + "A trimethylxanthine in which the three methyl groups are located at positions 1, 3, and 7. A purine alkaloid that occurs naturally in tea and coffee." "CAS:58-08-2 PMID:9218278 PMID:11209966 PMID:9063686 PMID:24039592 Reaxys:17705 PMID:20164568 PMID:23551936 PMID:22114686 PMID:18068204 PMID:16644114 PMID:10924888 PMID:15257305 PMID:19418355 PMID:16709440 SNOMEDCT:91107009 PMID:18258404 PMID:11022879 PMID:11410911 PMID:17508167 PMID:11815511 LINCS:LSM-2026 PMID:19088793 PMID:17387608 MetaCyc:1-3-7-TRIMETHYLXANTHINE PMID:15718055 PMID:12943586 KEGG:C07481 PMID:10884512 PMID:10796597 PMID:7441110 PDBeChem:CFF PMID:15681408 PMID:15280431 PMID:10822912 PMID:7689104 PMID:11431501 PMID:17132260 PMID:18647558 PMID:8679661 MeSH:D002110 PMID:15840517 PMID:9132918 PMID:11312039 PMID:17932622 PMID:16528931 PMID:11949272 PMID:9067318 PMID:17724925 PMID:19047957 PMID:16143823 PMID:19879252 PMID:16391865 PMID:14607010 PMID:19084078 PMID:18513215 PMID:12397877 Wikipedia:Caffeine PMID:19007524 KNApSAcK:C00001492 Drug_Central:463 KEGG:D00528 PMID:11014293 PMID:14521986 PMID:22770225 NCIt:C328 PMID:18625110 PMID:12915014 PMID:18421070 PMID:10803761 PMID:17957400 PMID:20470411 PMID:16856769 Gmelin:103040 PMID:10983026 PMID:12457274 PMID:12574990 SNOMEDCT:255641001 PMID:8347173 PMID:16805851 DrugBank:DB00201 PMID:8332255 PMID:10510174 HMDB:HMDB0001847" "UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" "Human osteosarcoma cell line" "RRID:CVCL_2909" "Hereditary vascular retinopathy (HVR) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by progressive visual impairment, strokes and often associated with Raynaud phenomenon and migraine-like symptoms." "OMIM:192315" @@ -29851,7 +29626,6 @@ "Quantification of calcium-binding and coiled-coil domain-containing protein 2 in a sample." "PMID:29875488" "UMLS:C0796094 UMLS:C2931643 OMIM:249620" "A benign tumor of the kidney, characterized by the presence of large cells with abundant eosinophilic granular cytoplasm. The majority of these tumors are discovered incidentally, during work-up of other conditions." "NCIt:C4526" - "Any disorder of the conjunctiva. " "MedDRA:10061446 ICD10:H11 NCIT:C27605 MONDO:0006170 ICD10CM:H10-H11 MEDGEN:3207 DOID:4251 NCIt:C27605 UMLS:C0009759 ICD10:H13" "The amount of a pikachurin when measured in blood serum." "The amount of a MORN repeat-containing protein 4 when measured in blood." "PMID:37794183" "A subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium in the absence of any deficiency of high molecular weight VWF multimers." "NCIT:C131688 SCTID:359729006 UMLS:C1282974 Orphanet:166090 SCTID:359725000 GARD:17023 icd11.foundation:1358085002 MEDGEN:266186" @@ -29883,7 +29657,7 @@ "A rare hereditary Transthyretin (TTR)-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein." "ICD10EXP:E85.4+ GARD:16755 icd11.foundation:1449168185 MEDGEN:907865 ICD10EXP:I43.1* UMLS:C4275067 Orphanet:85451 SCTID:715655000" "NCIt:C66976 MO:353" - "The capitate stalk on both sides of the thorax having developed from the dorsal metathoracic wing-buds, it is freely movable and capable of vibration, representing the hind wing of Diptera; used for flight balance." "MIAA:0000203 Wikipedia:Haltere MAT:0000203 EFO:0000886 FBbt:00004783" + "The capitate stalk on both sides of the thorax having developed from the dorsal metathoracic wing-buds, it is freely movable and capable of vibration, representing the hind wing of Diptera; used for flight balance." "Wikipedia:Haltere MIAA:0000203 MAT:0000203 EFO:0000886 FBbt:00004783" "A villous adenoma that involves the colon." "MEDGEN:56207 NCIT:C3495 SCTID:309084001 UMLS:C0149862" "MEDGEN:1648478 UMLS:C4748357 DOID:0070382 OMIM:618143" "Quantification of cGMP-dependent protein kinase 1, beta isozyme in a sample." "PMID:29875488" @@ -29892,7 +29666,7 @@ "The amount of a T-cell surface glycoprotein CD3 when measured in blood serum." "A lysophosphatidylcholine 18:2 in which the acyl group at position 1 is (9Z,12Z)-octadecadienoyl." "LIPID_MAPS_instance:LMGP01050035 HMDB:HMDB0010386 MetaCyc:CPD-8347 Reaxys:5664613 KEGG:C04100" "The amount of a receptor-type tyrosine-protein phosphatase beta when measured in blood." "PMID:37794183" - "A quaternary ammonium ion that is the conjugate acid of 4-(trimethylammonio)butanoate." "Reaxys:1765273 Beilstein:1765273 KEGG:C01181 PDBeChem:NM2 HMDB:HMDB0001161" + "A quaternary ammonium ion that is the conjugate acid of 4-(trimethylammonio)butanoate." "Reaxys:1765273 KEGG:C01181 PDBeChem:NM2 HMDB:HMDB0001161" "Quantification of serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform in a sample." "PMID:29875488" "Recent history of a neurodevelopmental disorder." "SNOMEDCT:442414004 ICD10CM:Z86.6" @@ -29928,7 +29702,7 @@ "Infections caused by arthropod-borne viruses, general or unspecified." "UMLS:C0003723 DOID:934 MEDGEN:389 MESH:D001102 NCIT:C34396 MONDO:0020731 MeSH:D001102 SCTID:40610006" "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a serotonin stimulus." - "A six-carbon aromatic annulene in which each carbon atom donates one of its two 2p electrons into a delocalised pi system. A toxic, flammable liquid byproduct of coal distillation, it is used as an industrial solvent. Benzene is a carcinogen that also damages bone marrow and the central nervous system." "PDBeChem:BNZ PMID:14677922 PMID:15935818 CAS:71-43-2 PMID:23222815 PMID:12857942 Beilstein:969212 PMID:19228219 PMID:6353911 PMID:17373369 PMID:8124204 PMID:11993966 Reaxys:969212 PMID:18407866 HMDB:HMDB0001505 PMID:18836923 PMID:11684179 KEGG:C01407 PMID:18072742 PMID:21325737 PMID:15468289 PMID:23534829 Gmelin:1671 PMID:16161967 PMID:18409691 UM-BBD_compID:c0142 PMID:23088855 Wikipedia:Benzene" + "A six-carbon aromatic annulene in which each carbon atom donates one of its two 2p electrons into a delocalised pi system. A toxic, flammable liquid byproduct of coal distillation, it is used as an industrial solvent. Benzene is a carcinogen that also damages bone marrow and the central nervous system." "PDBeChem:BNZ PMID:14677922 PMID:15935818 CAS:71-43-2 PMID:23222815 PMID:12857942 PMID:19228219 PMID:6353911 PMID:17373369 PMID:8124204 PMID:11993966 Reaxys:969212 PMID:18407866 HMDB:HMDB0001505 PMID:18836923 PMID:11684179 KEGG:C01407 PMID:18072742 PMID:21325737 PMID:15468289 PMID:23534829 Gmelin:1671 PMID:16161967 PMID:18409691 UM-BBD_compID:c0142 PMID:23088855 Wikipedia:Benzene" "KNApSAcK:C00000186 KEGG:C15791 LIPID_MAPS_instance:LMST01030121 Beilstein:5305497" "Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease." "icd11.foundation:1816858203 GARD:9711 MESH:C537880 UMLS:C1846421 SCTID:719257008 MEDGEN:375885 Orphanet:46059 OMIM:607330" "A melanoma affecting the esophageal wall. Melanoma in the esophagus is more commonly metastatic than primary. Primary melanomas of the esophagus are polypoid and clinically aggressive. (WHO, 2000)" "ONCOTREE:ESMM DOID:1108 UMLS:C1333460 NCIT:C5707 MEDGEN:272590" @@ -29993,7 +29767,6 @@ "The amount of a clusterin-like protein 1 when measured in blood serum." "The amount of a ephrin type-B receptor 1 when measured in blood serum." "Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions." "UMLS:CN207386 ICD10:D12.6 Orphanet:99818" - "A temperature unit which is equal to 5/9ths of a kelvin. Negative 40 degrees Fahrenheit is equal to negative 40 degrees Celsius." "SNOMEDCT:257965001 NCIt:C44277 MO:812 SNOMEDCT:257987005" "Quantification of phosphatidylcholine acyl-alkyl C42:5 measurement in a sample." "PMID:26068415" "The amount of a centromere protein W when measured in blood serum." "Quantification of WW domain binding protein 1-like in a sample." "PMID:29875488" @@ -30011,7 +29784,7 @@ "WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor." "GARD:0005528 DOID:14515 NCIT:C3718 ICD10:Q87.8 OMIM:194072 UMLS:C2931803 SCTID:715215007 Orphanet:893 GARD:0001732 UMLS:C0206115 MESH:D017624" "This syndrome is characterized by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy." "MEDGEN:348051 UMLS:C1860215 OMIM:200170 MESH:C536000 Orphanet:90301 GARD:453" "Quantification of the amount of cortolone glucuronide (1) in a sample." "PMID:35347128" - "A dicarboxylic acid dianion obtained by deprotonation of both carboxy groups of oxalic acid." "KEGG:C00209 Reaxys:1905970 PDBeChem:OXL CAS:338-70-5 Gmelin:2207 UM-BBD_compID:c0017 Beilstein:1905970" + "A dicarboxylic acid dianion obtained by deprotonation of both carboxy groups of oxalic acid." "KEGG:C00209 Reaxys:1905970 PDBeChem:OXL CAS:338-70-5 Gmelin:2207 UM-BBD_compID:c0017" "An overwhelming, irrational, and persistent fear of traveling in an aircraft." "NCIT:C35413 UMLS:C0344318 DOID:605 NCIt:C35413 MEDGEN:83369 MONDO:0003748 Wikipedia:Fear_of_flying" "MeSH:D012285 SNOMEDCT:114233001" "human small cell lung carcinoma cell line from a 59 year old Caucasian male (ATCC CRL-5903)" "ATCC:CRL-5903" @@ -30024,7 +29797,7 @@ "OMIM:614527 ICD10:Q93.5" "Quantification of IQ domain-containing protein F1 in a sample." "PMID:29875488" - "A straight-chain, sixteen-carbon, saturated long-chain fatty acid." "PMID:20001317 DrugBank:DB03796 PMID:28600633 PMID:25584012 KNApSAcK:C00030479 KEGG:D05341 LIPID_MAPS_instance:LMFA01010001 PMID:17502136 MetaCyc:PALMITATE PMID:12492626 PMID:15357969 PDBeChem:PLM Gmelin:190200 CAS:57-10-3 PMID:1589452 Beilstein:607489 PMID:22735334 PMID:16884313 HMDB:HMDB0000220 PMID:17439666 KNApSAcK:C00001233 KEGG:C00249 PMID:16509590 Reaxys:607489 PPDB:1336 Wikipedia:Palmitic_acid" + "A straight-chain, sixteen-carbon, saturated long-chain fatty acid." "PMID:20001317 DrugBank:DB03796 PMID:28600633 PMID:25584012 KNApSAcK:C00030479 KEGG:D05341 LIPID_MAPS_instance:LMFA01010001 PMID:17502136 MetaCyc:PALMITATE PMID:12492626 PMID:15357969 PDBeChem:PLM Gmelin:190200 CAS:57-10-3 PMID:1589452 PMID:22735334 PMID:16884313 HMDB:HMDB0000220 PMID:17439666 KNApSAcK:C00001233 KEGG:C00249 PMID:16509590 Reaxys:607489 PPDB:1336 Wikipedia:Palmitic_acid" "MEDGEN:1842228 UMLS:C5680718 icd11.foundation:1340308055 GARD:20761 Orphanet:254827" "An increased concentration of homocystine in the urine." "UMLS:C0019880 SNOMEDCT_US:11282001" "A dicarboxylic acid anion obtained by deprotonation of at least one of the carboxy groups of undecanedioic acid." @@ -30060,7 +29833,7 @@ "quantification of some aspect of aggressive behaviour" - "An instance of amyotrophic lateral sclerosis that is caused by an inherited modification of the individual's genome." "OMIM:105400 OMIM:614373 OMIM:614808 OMIM:205100 OMIM:615426 MedDRA:10077024 OMIM:614696 MEDGEN:1642547 UMLS:C4551993 OMIM:615515 OMIM:612577 OMIMPS:105400 OMIM:612069 MONDO:0005144 OMIM:613954 OMIM:613435 OMIM:300857" + "An instance of amyotrophic lateral sclerosis that is caused by an inherited modification of the individual's genome." "OMIMPS:105400 OMIM:615426 UMLS:C4551993 OMIM:612577 OMIM:612069 OMIM:300857 MEDGEN:1642547 OMIM:614373 OMIM:205100 OMIM:614808 OMIM:615515 MedDRA:10077024 OMIM:613435 OMIM:613954 OMIM:614696 MONDO:0005144 OMIM:105400" "SNOMEDCT:32691002 MeSH:D020114" "The amount of a transmembrane protein 230 when measured in blood serum." @@ -30135,7 +29908,7 @@ "Cysts of the cortex of the kidney." "UMLS:C1969144" "Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky." "UMLS:C1854348 SNOMEDCT_US:50219008 UMLS:C0019825" "Any measurable or observable characteristic related to the physical magnitude of the soft tissue at the base of the outer ear; consists of fat and fibrous tissue not reinforced by the auricular cartilage." - "A quinolinemonocarboxylic acid with broad-spectrum antibacterial activity against most gram-negative and gram-positive bacteria. Norfloxacin is bactericidal and its mode of action depends on blocking of bacterial DNA replication by binding itself to an enzyme called DNA gyrase." "LINCS:LSM-5286 Beilstein:567897 CiteXplore:6454381 \"PubMed citation\" ChemIDplus:70458-96-7 \"CAS Registry Number\" CiteXplore:6461606 \"PubMed citation\" Patent:US4146719 \"Patent\" Gmelin:1576626 \"Gmelin Registry Number\" CiteXplore:3908074 \"PubMed citation\" Patent:US4146719 Patent:BE863429 CiteXplore:6234465 \"PubMed citation\" Patent:US4292317 \"Patent\" PMID:6234465 Patent:DE2840910 Reaxys:567897 NCIt:C47638 Patent:US4292317 KEGG COMPOUND:70458-96-7 \"CAS Registry Number\" Patent:BE863429 \"Patent\" PMID:6211142 SNOMEDCT:387271008 PMID:3908074 CiteXplore:6211142 \"PubMed citation\" HMDB:HMDB0015192 VSDB:1831 PMID:6224685 KEGG DRUG:D00210 \"KEGG DRUG\" MeSH:D009643 KEGG:C06687 Wikipedia:Norfloxacin ChEMBL:100246 \"ChEMBL COMPOUND\" PMID:3317294 Patent:DE2840910 \"Patent\" CiteXplore:6224685 \"PubMed citation\" Beilstein:567897 \"Beilstein Registry Number\" KEGG:D00210 Wikipedia:Norfloxacin \"Wikipedia\" DrugBank:DB01059 PMID:6461606 SNOMEDCT:49485009 Drug_Central:1967 Gmelin:1576626 PMID:6454381 DrugBank:DB01059 \"DrugBank\" KEGG COMPOUND:C06687 \"KEGG COMPOUND\" CAS:70458-96-7 CiteXplore:3317294 \"PubMed citation\"" + "A quinolinemonocarboxylic acid with broad-spectrum antibacterial activity against most gram-negative and gram-positive bacteria. Norfloxacin is bactericidal and its mode of action depends on blocking of bacterial DNA replication by binding itself to an enzyme called DNA gyrase." "LINCS:LSM-5286 CiteXplore:6454381 \"PubMed citation\" ChemIDplus:70458-96-7 \"CAS Registry Number\" CiteXplore:6461606 \"PubMed citation\" Patent:US4146719 \"Patent\" Gmelin:1576626 \"Gmelin Registry Number\" CiteXplore:3908074 \"PubMed citation\" Patent:US4146719 Patent:BE863429 CiteXplore:6234465 \"PubMed citation\" Patent:US4292317 \"Patent\" PMID:6234465 Patent:DE2840910 Reaxys:567897 NCIt:C47638 Patent:US4292317 KEGG COMPOUND:70458-96-7 \"CAS Registry Number\" Patent:BE863429 \"Patent\" PMID:6211142 SNOMEDCT:387271008 CiteXplore:6211142 \"PubMed citation\" PMID:3908074 HMDB:HMDB0015192 VSDB:1831 PMID:6224685 KEGG DRUG:D00210 \"KEGG DRUG\" MeSH:D009643 KEGG:C06687 Wikipedia:Norfloxacin ChEMBL:100246 \"ChEMBL COMPOUND\" PMID:3317294 Patent:DE2840910 \"Patent\" CiteXplore:6224685 \"PubMed citation\" Beilstein:567897 \"Beilstein Registry Number\" KEGG:D00210 Wikipedia:Norfloxacin \"Wikipedia\" DrugBank:DB01059 PMID:6461606 SNOMEDCT:49485009 Drug_Central:1967 Gmelin:1576626 PMID:6454381 DrugBank:DB01059 \"DrugBank\" KEGG COMPOUND:C06687 \"KEGG COMPOUND\" CAS:70458-96-7 CiteXplore:3317294 \"PubMed citation\"" "A classic (severe) or non-classic (mild or intermediate) form of a genetic disease." "IPS DF 4.7 cell line is an induced pluripotent stem cell line, derived from newborn foreskin fibroblasts. Cells were received from the James Thomson laboratory, who originally reprogrammed the cells from fibroblasts provided by ATCC (Cat# CRL-2097TM). The first set of numbers before the period refer to different clones, the number after the period indicates the sub-clone. The differentiation method is described here: http://www.sciencemag.org/cgi/content/full/324/5928/797?rss=1" "PMID:19325077" "A type II NK T cell that has been recently activated, secretes interferon-gamma, and has the phenotype CD69-positive and downregulated NK markers." @@ -30201,7 +29974,7 @@ "ICD10:G71.8" "A unit which is a standard measure of the average kinetic energy of the particles in a sample of matter." "MO:48" - "An aprotoxin having the common aprotoxin cyclodepsipeptide skeleton where the isoleucyl residue carries an N-methyl substituent and the side-chain adjacent to the lactone is tert-butyl." "Reaxys:9181215 Patent:US2011294720 Wikipedia:Apratoxin_A Beilstein:9181215 MeSH:C442201 PMID:18461997 PMID:11389621 CAS:350791-64-9" + "An aprotoxin having the common aprotoxin cyclodepsipeptide skeleton where the isoleucyl residue carries an N-methyl substituent and the side-chain adjacent to the lactone is tert-butyl." "Reaxys:9181215 Patent:US2011294720 Wikipedia:Apratoxin_A MeSH:C442201 PMID:18461997 PMID:11389621 CAS:350791-64-9" "Quantification of the amount of X-03094 in a sample." "PMID:24816252" "An instance of cystic kidney disease that is caused by an inherited modification of the individual's genome." "UMLS:C5680285 GARD:19228 Orphanet:93587 MEDGEN:1842297" @@ -30297,6 +30070,7 @@ "UMLS:C0008625 MeSH:D002869" "UMLS:C1843706 OMIM:607543 MeSH:C535791 ICD10:Q77.8" "quantification in a sample (eg blood) of zeaxanthin, one of the most common carotenoid alcohols found in nature and the pigment that gives paprika, corn, saffron, wolfberries, and many other plants and microbes their characteristic color" + "A heating block is an instrument or part of an instrument which raises or maintains the temperature of a sample to a defined constant temperature during certain parts of an assay"@en "MO:663" "A heating block is an instrument or part of an instrument which raises or maintains the temperature of a sample to a defined constant temperature during certain parts of an assay" "MO:663" "White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980." "Orphanet:2475 UMLS:C1848463 SCTID:763619009 MESH:C536700 GARD:10081 OMIM:277740 MEDGEN:376362" @@ -30382,7 +30156,6 @@ "A malignant neoplasm involving the urachus." "UMLS:C0153615 ICD9:188.7 MEDGEN:509342 DOID:11817 SCTID:363456000" "CLO:0009218 BTO:0000038 RRID:CVCL_0546" "A type of disproportionate short stature characterized by a short trunk but a average-sized limbs." "UMLS:C1846435" - "Tobacco used to the detriment of a person's health or social functioning. Tobacco dependence is included." "DOID:0050742 NCIT:C54203 SNOMEDCT:56294008 ICD9:305.1 NCIt:C54203 icd11.foundation:1699574100 ICD10CM:F17 ICD10:F17 MeSH:D014029 UMLS:C0028043 MESH:D014029 MONDO:0008575 MEDGEN:45086 MedDRA:10057852 MeSH:D012907 SCTID:56294008" "OBSOLETE. X-linked form of distal hereditary motor neuropathy." "Orphanet:404538" "quantification of glucose effectiveness, the capacity of glucose to enhance its own cellular uptake and to suppress endogenous glucose production" @@ -30448,7 +30221,7 @@ "Central precocious puberty (CPP), also referred to as gonadotropin dependent precocious puberty, is an endocrine-related developmental disease characterized by the onset of pubertal changes, with development of secondary sexual characteristics and accelerated growth and bone maturation, before the normal age of puberty (8 years in girls and 9 years in boys)." "GARD:16546 MedDRA:10073186 Orphanet:650063 MEDGEN:90985 NANDO:1200381 NANDO:2200377 ICD9:259.1 Orphanet:759 MONDO:0019165 UMLS:C0342543 MESH:C562787 SCTID:237816004 DOID:0112308 icd11.foundation:1749914533 OMIMPS:176400" "A myelodysplastic syndrome characterized by dysplasia seen in at least 10% of the early cells of 1 cell type (either red blood cells, white blood cells, or megakaryocytes) in the bone marrow." "EFO:0003802 MEDGEN:415300 NCIT:C2872 NCIT:C82591 icd11.foundation:149518956 ICDO:9980/3 GARD:19585 SCTID:1153345005 UMLS:C0002893 MESH:D000753 ICD9:238.72 MONDO:0005272 Orphanet:98826 MedDRA:10038269 SCTID:109996008 ICD10:D46.7 UMLS:C2826318" - "A hydrogen butenedioate that is the conjugate base of maleic acid." "Reaxys:3537457 Beilstein:3537457 Gmelin:325289" + "A hydrogen butenedioate that is the conjugate base of maleic acid." "Reaxys:3537457 Gmelin:325289" "The amount of a nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 when measured in blood." "PMID:37794183" "Increased pressure within the pulmonary circulation due to lung or heart disorder." "NCIt:C3120" @@ -30462,7 +30235,6 @@ "Quantification of Fc receptor-like protein 1 in a sample." "PMID:29875488" "Quantification of some aspect of the use of inhalant adrenergic drugs." "PMID:31015401" "The amount of a mitogen-activated protein kinase kinase kinase kinase 5 when measured in blood." "PMID:37794183" - "A viral infectious disease that results_in infection in cattle, located_in intestine, has_material_basis_in Bovine viral diarrhea virus 1, which is transmitted_by ingestion of infected food, or transmitted_by nasal secretions. The infection has_symptom lesions in the mucosa of digestive tract, has_symptom necrosis of lymphoid tissue, has_symptom hoof inflammation and dermatitis, and has_symptom diarrhea." "MESH:D030243 DOID:5115 MeSH:D001912 MONDO:0005679 MESH:D001912" "In the blood supply of the kidney, the vasa recta renis (or straight arteries of kidney, or straight arterioles of kidney) form a series of straight capillaries in the medulla. They lie parallel to the loop of Henle. These vessels branch off the efferent arterioles of juxtamedullary nephrons (those nephrons closest to the medulla), enter the medulla, and surround the loop of Henle." "EMAPA:30043 MA:0002595 FMA:72006 Wikipedia:Vasa_recta galen:ArteriaeRectae" "Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported." "MEDGEN:355405 MESH:C566526 OMIM:602553 SCTID:763527007 Orphanet:1590 UMLS:C1865208 GARD:16571" @@ -30527,7 +30299,7 @@ "A neoplasm (disease) that involves the spinal cord." "MedDRA:10062261 MEDGEN:11551 MONDO:0021234 NCIT:C3381 MESH:D013120 NCIt:C3381 MeSH:D013120 UMLS:C0037930" "Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size." "UMLS:C0241816" "The amount of a F-box only protein 48 when measured in blood serum." - "A tertiary amine that is a substituted phenothiazine in which the ring nitrogen at position 10 is attached to C-3 of an N,N-dimethylpropan-2-amine moiety." "Drug_Central:2286 DrugBank:DB01069 Patent:US2607773 Reaxys:88554 KEGG:C07404 Beilstein:88554 Gmelin:337077 Patent:US2530451 Wikipedia:Promethazine CAS:60-87-7 KEGG:D00494 LINCS:LSM-4440 HMDB:HMDB0015202" + "A tertiary amine that is a substituted phenothiazine in which the ring nitrogen at position 10 is attached to C-3 of an N,N-dimethylpropan-2-amine moiety." "Drug_Central:2286 DrugBank:DB01069 Patent:US2607773 Reaxys:88554 KEGG:C07404 Gmelin:337077 Patent:US2530451 Wikipedia:Promethazine CAS:60-87-7 KEGG:D00494 LINCS:LSM-4440 HMDB:HMDB0015202" "This method enriches 10X 5' gene expression libraries with heavy and light chain Immunoglobulin (Ig) sequences from B cells using PCR primers." "The amount of a ceramide synthase 5 when measured in blood serum." @@ -30537,7 +30309,7 @@ "A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair, or skin." "NCIT:C84543 SCTID:15890002 ICD10CM:E70.3 UMLS:C0001916 GARD:5768 MEDGEN:182 MESH:D000417" "Quantification of cocaine- and amphetamine-regulated transcript protein in a sample." "PMID:29875488" "Anti-CTCF antibody\nSpecies: Human, Mouse, Rat, Primate, Canine (depends on vendor)\nGene: CTCF ENSG00000102974" - "Catalysis of the release of an N-terminal tripeptide from a polypeptide." "MetaCyc:3.4.14.9-RXN MetaCyc:3.4.14.10-RXN EC:3.4.14.9 EC:3.4.14.10" + "Catalysis of the release of an N-terminal tripeptide from a polypeptide." "MetaCyc:3.4.14.10-RXN EC:3.4.14.10" "EFO:0003439 TAO:0000568 AAO:0000468 ZFA:0000568" "A unique molecular identifier (UMI) barcode is a short nucleotide sequence that is used to identify reads originating from an individual mRNA molecule." @@ -30607,11 +30379,9 @@ "Quantification of the amount of hydroxycotinine in a sample." "PMID:35347128" - "An extrinsic allergic alveolitis that is characterized by a set of symptoms such as headache, fatigue, eye irritation, and breathing difficulties that affect workers in modern airtight office buildings. The disease is caused by indoor pollutants (as formaldehyde fumes, particulate matter, or microorganisms), and the symptoms tend to disappear when affected individuals leave the building." "MEDGEN:48661 MESH:D018877 MedDRA:10040634 DOID:2710 UMLS:C0037050 SCTID:19076009 MeSH:D018877 MONDO:0005959" "The amount of a growth factor receptor-bound protein 14 when measured in blood serum." "Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild cognitive impairment." "DECIPHER:59 SCTID:448054001 OMIM:169500 DOID:0060785 GARD:10587 MEDGEN:356995 MESH:C566813 UMLS:C1868512 Orphanet:99027" "Quantification of the frequency which an individual omits to eat breakfast. Breakfast skipping is often considered as a sub-clinical eating disorder." "PMID:31190057" - "A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain." "UMLS:C0031046 MEDGEN:18377 HP:0001701 MONDO:0005904 MedDRA:10034484 SCTID:3238004 icd11.foundation:1296696944 ICD10:I30 Orphanet:58208 MeSH:D010493 NCIT:C34915 MESH:D010493 ICD10:I31 DOID:1787" "Blocking of a blood vessel in the SKULL by an EMBOLUS which can be a blood clot (THROMBUS) or other undissolved material in the blood stream. Most emboli are of cardiac origin and are associated with HEART DISEASES. Other non-cardiac sources of emboli are usually associated with VASCULAR DISEASES." "MONDO:0006809 ICD9:434.1 DOID:4372 MESH:D020766 ICD9:434.10 MeSH:D020766 UMLS:C0752140 MEDGEN:155710 SCTID:75543006" "Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations." "NANDO:1200857 UMLS:C0000744 MEDGEN:1253 MESH:D000012 NCIT:C84525 NORD:703 NANDO:2200604 OMIM:200100 DOID:1386 Orphanet:14 SCTID:190787008 GARD:5" @@ -30709,7 +30479,6 @@ "Spondylocostal dysostosis-anal and genitourinary malformations syndrome is characterized by the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. Autosomal recessive inheritance has been suggested." "Orphanet:94095 OMIM:271520 MESH:C564799 UMLS:C1849069 MEDGEN:341373" "Quantification of formate in a sample." "PMID:33283231" - "Disorders in which there is a loss of ego boundaries or a gross impairment in reality testing with delusions or prominent hallucinations. (From DSM-IV, 1994)" "MeSH:D001523 DOID:2468 ICD10:F99 NIFSTD:birnlex_12669 NCIT:C2893 ICD9:290-299.99 SCTID:74732009 SNOMEDCT:5464005 MedDRA:10004204 UMLS:C0004936 ICD9:298.8 ICD9:V11.9 SNOMEDCT:74732009 MESH:D001523 NCIt:C2893 MedDRA:10013190 MeSH:D011618 DOID:150 MONDO:0005084 MedDRA:10061284 MEDGEN:14047 SNOMEDCT:69322001" "A cardiac atrium that is in the left side of the heart. It receives oxygenated blood from the pulmonary veins, In mammals this is pumped into the left ventricle, via the Mitral valve." "VHOG:0000369 MA:0000074 XAO:0003191 EMAPA:17315 Wikipedia:Left_atrium EHDAA2:0000275 UMLS:C0225860 AAO:0010247 FMA:7097 BTO:0001702 galen:LeftAtrium NCIT:C12869 SCTID:244387002" @@ -30750,7 +30519,7 @@ "A well-circumscribed benign smooth muscle neoplasm arising from the rectum. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "MEDGEN:233390 UMLS:C1335682 NCIT:C5552 DOID:7160" "Short bowel syndrome is a complex disease that occurs due to the physical loss or the loss of function of a portion of the small and/or large intestine. Consequently, individuals with short bowel syndrome often have a reduced ability to absorb nutrients such as fats, carbohydrates (sugars) vitamins, minerals, trace elements and fluids (malabsorption)." "UMLS:CN204780 Orphanet:365563" - "CAS:52214-84-3 Reaxys:1984981 NCIt:C87471 Patent:DE2343606 Beilstein:1984981 Patent:US3948973 SNOMEDCT:395957009 Drug_Central:658 LINCS:LSM-1600 KEGG:D03521 SNOMEDCT:320016006 MeSH:C019304 Wikipedia:Ciprofibrate" + "CAS:52214-84-3 Reaxys:1984981 NCIt:C87471 Patent:DE2343606 Patent:US3948973 SNOMEDCT:395957009 Drug_Central:658 LINCS:LSM-1600 KEGG:D03521 SNOMEDCT:320016006 MeSH:C019304 Wikipedia:Ciprofibrate" "Quantification of the amount of ethyl glucuronide in a sample." "PMID:35347128" "Quantification of N-acetylhomocitrulline in a sample." @@ -30766,7 +30535,7 @@ "A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells." "MEDGEN:237030 NCIt:C5722 UMLS:C1336861 ONCOTREE:UCP NCIT:C5722 MONDO:0006478" - "A member of the class of benzimidazoles that is benzimidalole which is substituted at position 2 by a (methoxycarbonyl)amino group and at position 5 by a 2-thienoyl group. It is an antineoplastic agent that exerts its effect by depolymerising microtubules." "NCIt:C75228 PMID:7284368 Wikipedia:Nocodazole LINCS:LSM-2260 PMID:7344613 PMID:11679255 KEGG:C13719 PMID:7199049 Beilstein:1085978 Reaxys:1085978 PDBeChem:NZO MeSH:D015739 PMID:518692 PMID:20399776 PMID:6384770 CAS:31430-18-9 KEGG:D05197 PMID:23869451 DrugBank:DB08313 PMID:22002881" + "A member of the class of benzimidazoles that is benzimidalole which is substituted at position 2 by a (methoxycarbonyl)amino group and at position 5 by a 2-thienoyl group. It is an antineoplastic agent that exerts its effect by depolymerising microtubules." "NCIt:C75228 PMID:7284368 Wikipedia:Nocodazole LINCS:LSM-2260 PMID:7344613 PMID:11679255 KEGG:C13719 PMID:7199049 Reaxys:1085978 PDBeChem:NZO MeSH:D015739 PMID:518692 PMID:20399776 PMID:6384770 CAS:31430-18-9 KEGG:D05197 PMID:23869451 DrugBank:DB08313 PMID:22002881" "BTO:0003476 NCIt:C117188 CLO:0009041 RRID:CVCL_0069" "Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." "OMIM:601104 Orphanet:240071 MEDGEN:1640811 GARD:17182 UMLS:C4551863" "OBSOLETE. An instance of transient congenital hypothyroidism that is caused by an inherited modification of the individual's genome." "Orphanet:226316" @@ -30870,7 +30639,6 @@ "The amount of a (5z7e)-(3s)-262626272727-hexafluoro-910-seco-5710(19)16-cholestatetraen-23-yne-325-diol when measured in blood serum." "A quantification of liver enzymes, typically in blood, used by clinicians to determine liver injury, disease and function." - "late-onset myasthenia gravis is a form of MG that occurs in individuals aged 50 years or older" "MEDGEN:1843050 PMID:26562150 UMLS:C5680024 MONDO:0018324 Orphanet:391490 GARD:21623" "The amount of a beta-1,3-glucosyltransferase when measured in blood serum." "Joint pain." "NCIt:C50464 UMLS:C0003862 SNOMEDCT:57676002 SNOMEDCT_US:57676002" @@ -31002,7 +30770,6 @@ "A squamous cell carcinoma that arises from the penis and is characterized by the presence of malignant spindle-shaped cells." "MEDGEN:235580 NCIT:C6984 UMLS:C1335923 DOID:7958" "Compression of the heart caused by rigid, thickened, or fused pericardial membranes." "UMLS:C0240709" - "A congenital abnormality characterized by the elevation of the DIAPHRAGM dome. It is the result of a thinned diaphragmatic muscle and injured PHRENIC NERVE, allowing the intra-abdominal viscera to push the diaphragm upward against the LUNG." "SCTID:34168003 MEDGEN:8359 UMLS:C0011981 SNOMEDCT:34168003 MeSH:D003965 MESH:D003965 HP:0009110 DOID:10480 NCIt:C98912 NCIT:C98912 MONDO:0006726" "Inbred strain." "MGI:2159754 TGEMO:00095" "The amount of a guanylyl cyclase C when measured in blood." "PMID:37794183" @@ -31071,7 +30838,6 @@ "Quantification of the amount of stachydrine in a sample." "PMID:24816252" "A topoisomerase inhibitor that inhibits the bacterial enzymes of the DNA topoisomerases, Type I class (EC 5.99.1.2) that catalyze ATP-independent breakage of one of the two strands of DNA, passage of the unbroken strand through the break, and rejoining of the broken strand. These bacterial enzymes reduce the topological stress in the DNA structure by relaxing negatively, but not positively, supercoiled DNA." "MeSH:D059004" - "Inflammation of the ENDOMETRIUM, usually caused by intrauterine infections. Endometritis is the most common cause of postpartum fever." "SCTID:78623009 MeSH:D004716 MEDGEN:41789 SNOMEDCT:78623009 MedDRA:10014791 MESH:D004716 NCIT:C26764 DOID:1002 UMLS:C0014179 MONDO:0000918" "Quantification of the amount of X-16580 in a sample." "PMID:35347128" @@ -31203,7 +30969,6 @@ "The amount of a protein NDRG4 when measured in blood serum." "A lateral outgrowth from a plant stem that is typically a flattened expanded variably shaped greenish organ, constitutes a unit of the foliage, and functions primarily in food manufacture by photosynthesis." "MAT:0000276 BTO:0000713" - "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Zaire ebolavirus, has_material_basis_in Sudan ebolavirus, has_material_basis_in Cote d'Ivoire ebolavirus, or has_material_basis_in Bundibugyo ebolavirus, which are transmitted_by contact with the body fluids of an infected animal or person, transmitted_by contaminated fomites, or transmitted_by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding." "MEDGEN:129219 icd11.foundation:792755706 NCIT:C36171 MedDRA:10014071 Orphanet:319218 SCTID:37109004 MedDRA:10055245 MESH:D019142 MeSH:D019142 DOID:4325 GARD:2035 MONDO:0005737 UMLS:C0282687" "An extranodal marginal zone B-cell lymphoma arising from mucosa-associated lymphoid tissue in the thyroid gland. The vast majority of cases are associated with chronic lymphocytic thyroiditis." "NCIT:C7601 MONDO:0006464 UMLS:C1336754 MEDGEN:234948 EFO:1000591" "Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities." "GARD:18846 SCTID:715574002 icd11.foundation:377572273 MEDGEN:909667 Orphanet:54247 UMLS:C4275079" "Congenital leptin deficiency is a form of monogenic obesity characterized by severe early-onset obesity and marked hyperphagia." "GARD:13015 UMLS:C3554224 OMIM:614962 MEDGEN:767138 DOID:0111334 icd11.foundation:591009309 Orphanet:66628 NORD:110641" @@ -31216,13 +30981,13 @@ "MeSH:D014721 SNOMEDCT:23498004" "Quantification of tolloid-like protein 1 in a sample." "PMID:29875488" "High blood pressure secondary to renal artery stenosis." "HP:0100817 NCIt:C85044 DOID:1591 ICD10CM:I15.0 NANDO:2200141 SNOMEDCT:123799005 UMLS:C0020545 SCTID:123799005 MEDGEN:43786 MeSH:D006978 MedDRA:10038562 NANDO:2100016 MONDO:0006947 ICD9:405.91" - "An organic cation that consists of 4,4'-bipyridine bearing two N-methyl substituents loctated at the 1- and 1'-positions." "PMID:21619794 Chemspider:15147 MeSH:D010269 PMID:21619822 PMID:20582739 FooDB:FDB011120 PMID:21787677 PPDB:505 PMID:21598522 PMID:21236547 Gmelin:51125 CAS:4685-14-7 PMID:21151885 PMID:18620719 PMID:11349957 SNOMEDCT:22065005 PMID:21777615 Beilstein:3590305 KEGG:C14701 PMID:21429624 NCIt:C2803 PMID:21750730 PMID:21318114 Reaxys:3590305 PMID:21802509 PMID:20377249 Pesticides:paraquat PMID:21300143 PMID:21616728 PMID:21493003" + "An organic cation that consists of 4,4'-bipyridine bearing two N-methyl substituents loctated at the 1- and 1'-positions." "PMID:21619794 Chemspider:15147 MeSH:D010269 PMID:21619822 PMID:20582739 FooDB:FDB011120 PMID:21787677 PPDB:505 PMID:21598522 PMID:21236547 Gmelin:51125 CAS:4685-14-7 PMID:21151885 PMID:18620719 PMID:11349957 SNOMEDCT:22065005 PMID:21777615 KEGG:C14701 PMID:21429624 NCIt:C2803 PMID:21750730 PMID:21318114 Reaxys:3590305 PMID:21802509 PMID:20377249 Pesticides:paraquat PMID:21300143 PMID:21616728 PMID:21493003" "An extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure." "OMIM:204690 MEDGEN:419162 SCTID:109477002 UMLS:C2931783 DOID:0110066 Orphanet:171836 ICD9:520.5 Orphanet:1031 GARD:646 MESH:C538241 OMIM:614253" "Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis." "ICD10:Q03.0 UMLS:C0265216 OMIM:307000" "FIBROSIS of the hepatic parenchyma due to obstruction of BILE flow ( CHOLESTASIS) in the intrahepatic or extrahepatic bile ducts ( BILE DUCTS, INTRAHEPATIC; BILE DUCTS, EXTRAHEPATIC). Primary biliary cirrhosis involves the destruction of small intra-hepatic bile ducts and bile secretion. Secondary biliary cirrhosis is produced by prolonged obstruction of large intrahepatic or extrahepatic bile ducts from a variety of causes." "ICD9:571.6 NCIt:C51225 SNOMEDCT:1761006" "Quantification of the amount of X-12127 in a sample." "PMID:35347128" - "An icosapentaenoic acid having five cis-double bonds at positions 5, 8, 11, 14 and 17." "KNApSAcK:C00001215 PMID:18638380 PMID:24387137 KEGG:C06428 PMID:23920312 PDBeChem:EPA KNApSAcK:C00000408 HMDB:HMDB0001999 Drug_Central:3174 DrugBank:DB00159 Beilstein:1714433 PMID:24238887 PMID:9668087 PMID:19054597 PMID:24108131 MetaCyc:EICOSAPENTAENOATE Reaxys:1714433 PMID:12549599 LIPID_MAPS_instance:LMFA01030759 PMID:21118482 CAS:10417-94-4 KEGG:D08061 PMID:21274596 PMID:24389665" + "An icosapentaenoic acid having five cis-double bonds at positions 5, 8, 11, 14 and 17." "KNApSAcK:C00001215 PMID:18638380 PMID:24387137 KEGG:C06428 PMID:23920312 PDBeChem:EPA KNApSAcK:C00000408 HMDB:HMDB0001999 Drug_Central:3174 DrugBank:DB00159 PMID:24238887 PMID:9668087 PMID:19054597 PMID:24108131 MetaCyc:EICOSAPENTAENOATE Reaxys:1714433 PMID:12549599 LIPID_MAPS_instance:LMFA01030759 PMID:21118482 CAS:10417-94-4 KEGG:D08061 PMID:21274596 PMID:24389665" "Quantification of the amount of 1-(1-enyl-stearoyl)-GPC (P-18:0) in a sample." "PMID:35347128" "Heart failure characterized by mild symptoms (mild shortness of breath and/or angina) and slight limitation during ordinary activity." "MONDO:0005255 Wikipedia:New_York_Heart_Association_Functional_Classification" @@ -31289,8 +31054,7 @@ "A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." "MONDO:0005087 ICD9:508.8 ICD9:508 ICD10:J98 ICD9:460-519.99 UMLS:C0035204 ICD9:519.1 ICD9:517 NCIt:C26871 ICD10:J99 ICD10:J06 ICD9:516.8 DOID:1579 ICD9:519.3 ICD9:510-519.99 SNOMEDCT:50043002 ICD9:V12.60 SCTID:50043002 ICD10CM:J00-J99 ICD9:508.1 MEDGEN:48421 ICD9:516.9 ICD10:J39 ICD9:517.8 NANDO:1100010 ICD10:J63 ICD9:519 NCIT:C26871 ICD9:519.8 MESH:D012140 ICD9:519.9 ICD9:503 ICD9:516 ICD9:V47.2 ICD9:508.9 ICD9:500-508.99 ICD10:J34" "UMLS:C0751490 OMIM:268800 ICD10:E75.0" "quantification of the amount of dihomo-gamma-linoleic acid in a sample" - "Deficiency of the aminoacylase-1 enzyme" "SCTID:709282004 MESH:C538246 OMIM:609924 Orphanet:137754 MEDGEN:324393 UMLS:C1835922 GARD:9741 MeSH:C538246 MONDO:0012368 ICD9:270.8" - "A retinoic acid that is all-trans-retinoic acid in which the double bond which is alpha,beta- to the carboxy group is isomerised to Z configuration. A synthetic retinoid, it is used for the treatment of severe cases of acne and other skin diseases." "PMID:20482692 PMID:11866680 NCIt:C603 HMDB:HMDB0006219 KEGG:D00348 Patent:EP111325 CAS:4759-48-2 Patent:US4556518 Wikipedia:Isotretinoin Drug_Central:1508 Beilstein:1885770 LIPID_MAPS_instance:LMPR01090021 PMID:18077132 DrugBank:DB00982 MeSH:D015474 SNOMEDCT:387208003 PMID:23676507 SNOMEDCT:38314008 PMID:11606947 PMID:18788179 PMID:15304471 PMID:19568610 PMID:9807973 Reaxys:1885770" + "A retinoic acid that is all-trans-retinoic acid in which the double bond which is alpha,beta- to the carboxy group is isomerised to Z configuration. A synthetic retinoid, it is used for the treatment of severe cases of acne and other skin diseases." "PMID:20482692 PMID:11866680 NCIt:C603 HMDB:HMDB0006219 KEGG:D00348 Patent:EP111325 CAS:4759-48-2 Patent:US4556518 Wikipedia:Isotretinoin Drug_Central:1508 LIPID_MAPS_instance:LMPR01090021 PMID:18077132 DrugBank:DB00982 MeSH:D015474 SNOMEDCT:387208003 PMID:23676507 SNOMEDCT:38314008 PMID:11606947 PMID:18788179 PMID:15304471 PMID:19568610 PMID:9807973 Reaxys:1885770" "The amount of a glucosidase 2 subunit beta when measured in blood serum." "The amount of a E3 ubiquitin-protein ligase NEURL1 when measured in blood serum." "An N-acylglycine in which the acyl group is specified as 2-hydroxybenzoyl." "PMID:7074905 PMID:2630630 HMDB:HMDB0000840 PMID:3805574 PMID:3385604 Wikipedia:Salicyluric_acid Reaxys:2213833 PMID:22770225 KEGG:C07588 PMID:1686904 CAS:487-54-7 PMID:947617 PMID:2079643 PMID:3216284 PMID:6101164 PMID:2605706" @@ -31366,7 +31130,6 @@ "A disease or disorder that involves the vertebra." "MEDGEN:747221 UMLS:C2316319 SCTID:430886005" "A length unit which is equal to one thousandth of a meter or 10^[-3] m." "SNOMEDCT:258673006 NCIt:C28251 MO:648" - "A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart ." "MEDGEN:226970 icd11.foundation:1533647472 DOID:0111154 Orphanet:443236 UMLS:C1299624 MONDO:0011479 OMIM:604715 GARD:13591 MESH:D054972 SCTID:8074002 MedDRA:10063927 NCIT:C85020" "A syndromic disease characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, Epidermal nevi, and Skeletal anomaly." "OMIM:612918 MEDGEN:442876 NORD:979 GARD:10939 Orphanet:140944 UMLS:C2752042 DOID:0080351 MESH:C567863 SCTID:719475006" "The amount of a lymphocyte-specific protein 1 when measured in blood serum." "The amount of a trafficking protein particle complex subunit 3 when measured in blood serum." @@ -31398,7 +31161,6 @@ "An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses." "GARD:19725 ICD9:081.1 icd11.foundation:1961511435 DOID:11254 SCTID:47761007 MEDGEN:2730 MeSH:D014438 UMLS:C0006181 MONDO:0005680 Orphanet:99990" "A moderate form of hypophosphatasia (HPP) characterized by adult onset osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures and dental anomalies." "UMLS:C0268413 Orphanet:247676 OMIM:146300 DOID:0110913" "A group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol." "MESH:D006995 UMLS:C0020597 icd11.foundation:1934975006 GARD:18802 Orphanet:31154 MEDGEN:6978 DOID:1390 SCTID:190786004" - "A condition with damage to the lining of the lower ESOPHAGUS resulting from chronic acid reflux (ESOPHAGITIS, REFLUX). Through the process of metaplasia, the squamous cells are replaced by a columnar epithelium with cells resembling those of the INTESTINE or the salmon-pink mucosa of the STOMACH. Barrett's columnar epithelium is a marker for severe reflux and precursor to ADENOCARCINOMA of the esophagus." "NCIT:C2891 DOID:9206 ICD9:530.85 MedDRA:10004134 SNOMEDCT:302914006 MEDGEN:2551 SCTID:196609006 OMIM:614266 MeSH:D001471 UMLS:C0004763 Orphanet:1232 MONDO:0013662 MESH:D001471 NCIt:C2891" "Quantification of polyadenylate-binding protein-interacting protein 1 in a sample." "PMID:29875488" "An instance of hypoparathyroidism that is caused by an inherited genomic modification in an individual." "UMLS:C5680825 MEDGEN:1842344 GARD:20407 Orphanet:208593" "quantification of the duration of the T wave from its peak to its end" @@ -31431,6 +31193,7 @@ "The smaller and more medial part of the lentiform nucleus of the brain, separated from the putamen by the lateral medullary lamina. In official anatomic nomenclature, it is divided by the medial medullary lamina into two parts, lateral and medial, both of which have extensive connections with the corpus striatum, thalamus, and mesencephalon." "MAT:0000510 MA:0000890 EV:0100188 NIFSTD:birnlex_1234 FMA:61835 BTO:0002246" "A lymphoma that occurs in an adult." "UMLS:C1332206 NCIT:C7587 DOID:5825 NANDO:2100004 MEDGEN:233965" "A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells." "MEDGEN:1681593 UMLS:C5190517 SCTID:116371000119107 DOID:2426 Orphanet:251937 NCIT:C6934 ONCOTREE:GNC MESH:D005729 GARD:10638 ICDO:9492/0 NANDO:2200097" + "A cellular process consisting of the biochemical pathways by which a living organism synthesizes chemical substances. This typically represents the energy-requiring part of metabolism in which simpler substances are transformed into more complex ones." "Wikipedia:Anabolism" "SNOMEDCT:38004008 NCIt:C86373" "The amount of a argininosuccinate synthase when measured in blood." "PMID:37794183" @@ -31521,7 +31284,6 @@ "A chemical entity is a physical entity of interest in chemistry including molecular entities, parts thereof, and chemical substances." "Thrombopoietin (THPO) also known as megakaryocyte growth and development factor (MGDF) is a protein that in humans is encoded by the THPO gene. Thrombopoietin is a glycoprotein hormone produced mainly by the liver and the kidney that regulates the production of platelets by the bone marrow. It stimulates the production and differentiation of megakaryocytes, the bone marrow cells that fragment into large numbers of platelets.[1]" "SNOMEDCT:18617001 NCIt:C20441 MeSH:D013926 OMIM:600044 CASRN:9014-42-0 DSSTox_Generic_SID:40918" - "Cancers or tumors of the LARYNX or any of its parts: the GLOTTIS; EPIGLOTTIS; LARYNGEAL CARTILAGES; LARYNGEAL MUSCLES; and VOCAL CORDS." "MedDRA:10028995 MedDRA:10023841 NCIT:C3156 SCTID:126692004 MESH:D007822 UMLS:C0023055 MONDO:0021071 MEDGEN:7271 DOID:2596 MeSH:D007822 NCIt:C3156" "Quantification of the amount of 1-docosapentaenoyl-GPC (22:5n3) in a sample." "PMID:35347128" "A neoplasm (disease) that involves the tonsil." "SCTID:127227003 NCIT:C3417 MEDGEN:21201 UMLS:C0040422" @@ -31600,7 +31362,6 @@ "The amount of a tyrosine-protein kinase receptor UFO when measured in blood serum." "An X-linked genetic condition caused by alterations in the gene G6PD that result in moderately to severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Most individuals with G6PD deficiency are asymptomatic throughout their life. Individuals with G6PD variants that cause G6PD deficiency are at risk for severe neonatal jaundice. These individuals are also at risk for acute hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans." "UMLS:C2939465 MeSH:D005955 MONDO:0005775 MEDGEN:473706 NCIT:C98933 MESH:D005955 SCTID:62403005 DOID:2862 NANDO:2200627" "A disease characteristic in which the cause of the disease is present in some of the cells of the organism, or in all the cells of the organism." - "Spinal muscular atrophy is a disorder of spinal motor neurons characterized clinically by the development of muscle weakness and atrophy." "MEDGEN:7755 ICD9:335.10 MedDRA:10080264 UMLS:C0026847 ICD9:335.19 DOID:12377 NANDO:2100231 NCIT:C85075 GARD:7674 ICD10:G12.9 icd11.foundation:71074342 MeSH:D009134 MedDRA:10041583 MedDRA:10041582 NANDO:1200003 ICD9:335.1 SCTID:5262007 MESH:D009134 NCIt:C85075 MONDO:0001516 NANDO:2200853 SNOMEDCT:5262007" "ICD10:Q73.8 OMIM:228900 UMLS:C1856738" "A rare epilepsy syndrome characterized by recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioral disturbances." "UMLS:C4755298 GARD:19088 Orphanet:86913 MEDGEN:1661865" @@ -31623,8 +31384,6 @@ "The amount of a nuclear nucleic acid-binding protein C1D when measured in blood serum." "ZFA:0001073" "quantification of the amount of Abelson tyrosine-protein kinase 2 in a sample" - "Any disease of the teeth" "UMLS:C0040435 SCTID:234947003 ICD10:K08 MONDO:0006999 MESH:D014076 MeSH:DO14076 SNOMEDCT:234947003 MEDGEN:11852 DOID:1091 NCIT:C35077" - "A condition of HYPONATREMIA and renal salt loss attributed to overexpansion of BODY FLUIDS resulting from sustained release of ANTIDIURETIC HORMONES which stimulates renal resorption of water. It is characterized by normal KIDNEY function, high urine OSMOLALITY, low serum osmolality, and neurological dysfunction. Etiologies include ADH-producing neoplasms, injuries or diseases involving the HYPOTHALAMUS, the PITUITARY GLAND, and the LUNG. This syndrome can also be drug-induced." "MEDGEN:5772 UMLS:C0021141 Orphanet:83449 NANDO:1200376 MeSH:D007177 NANDO:2100116 NANDO:2200323 MedDRA:10042818 SCTID:55004003 MESH:D007177 MONDO:0006802 ICD9:253.6 NCIT:C3988 DOID:3401" "A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin." "NCIT:C5962 EFO:1000497 MEDGEN:277338 MONDO:0006388 UMLS:C1334614" "Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis)." "GARD:5854 NANDO:2200555 MESH:D054880 SCTID:54954004 Orphanet:93 NCIT:C61273 DOID:0050461 MEDGEN:78649 MedDRA:10068220 NANDO:1200133 OMIM:208400 UMLS:C0268225 icd11.foundation:2143470200 NORD:813" @@ -31633,7 +31392,7 @@ "OMIM:254900" - "A naturally-occurring beta-amino acid comprising propionic acid with the amino group in the 3-position." "PMID:20386120 DrugBank:DB03107 PMID:16934791 KEGG:D07561 PMID:19239140 KEGG:C00099 PDBeChem:BAL PMID:18613640 PMID:11850512 Gmelin:49614 HMDB:HMDB0000056 MetaCyc:B-ALANINE PMID:12887142 Beilstein:906793 PMID:18528519 PMID:20199122 PMID:12107759 PMID:19955842 Wikipedia:Beta-Alanine PMID:11139233 PMID:14363188 PMID:22735334 Reaxys:906793 PMID:20994958 CAS:107-95-9 KNApSAcK:C00001333 PMID:20479615" + "A naturally-occurring beta-amino acid comprising propionic acid with the amino group in the 3-position." "PMID:20386120 DrugBank:DB03107 PMID:16934791 KEGG:D07561 PMID:19239140 KEGG:C00099 PDBeChem:BAL PMID:18613640 PMID:11850512 Gmelin:49614 HMDB:HMDB0000056 MetaCyc:B-ALANINE PMID:12887142 PMID:18528519 PMID:20199122 PMID:12107759 PMID:19955842 Wikipedia:Beta-Alanine PMID:11139233 PMID:14363188 PMID:22735334 Reaxys:906793 PMID:20994958 CAS:107-95-9 KNApSAcK:C00001333 PMID:20479615" "A reduction of oxygen in the blood combined with reduced blood flow (ISCHEMIA) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ISCHEMIC ATTACK, TRANSIENT; BRAIN INFARCTION; BRAIN EDEMA; COMA; and other conditions." "MeSH:D020925 DOID:4369" @@ -31663,7 +31422,7 @@ "The amount of a nucleotide exchange factor SIL1 when measured in blood serum." - "A penicillin in which the substituent at position 6 of the penam ring is a phenylacetamido group." "CAS:61-33-6 PMID:1709917 PMID:7602118 Gmelin:781913 PMID:24631718 PMID:6161899 PMID:12850488 Drug_Central:2082 Wikipedia:Benzylpenicillin Patent:US3024169 Beilstein:44740 PMID:11431418 PMID:11906332 PMID:25998949 PDBeChem:PNN PMID:10930630 PMID:29355985 PMID:7716788 PMID:2083978 LINCS:LSM-3229 Reaxys:44740 PMID:1384868 PMID:29017833 PMID:12569987 PMID:27731424 DrugBank:DB01053 HMDB:HMDB0015186 PMID:16033609 KEGG:D02336 PMID:24485692 KEGG:C05551" + "A penicillin in which the substituent at position 6 of the penam ring is a phenylacetamido group." "CAS:61-33-6 PMID:1709917 PMID:7602118 Gmelin:781913 PMID:24631718 PMID:6161899 PMID:12850488 Drug_Central:2082 Wikipedia:Benzylpenicillin Patent:US3024169 PMID:11431418 PMID:11906332 PMID:25998949 PDBeChem:PNN PMID:10930630 PMID:29355985 PMID:7716788 PMID:2083978 LINCS:LSM-3229 Reaxys:44740 PMID:1384868 PMID:29017833 PMID:12569987 PMID:27731424 DrugBank:DB01053 HMDB:HMDB0015186 PMID:16033609 KEGG:D02336 PMID:24485692 KEGG:C05551" "ICD10:Q92.3" "SNOMEDCT:416941006 MeSH:D057508 NCIt:C86223" @@ -31745,7 +31504,6 @@ "A classical monocyte that is CD14-positive, CD16-negative, CD64-positive, CD163-positive." "A cell type that can give rise to basophil and mast cells. This cell is CD34-positive, CD117-positive, CD125-positive, FceRIa-negative, and T1/ST2-negative, and expresses Gata-1, Gata-2, C/EBPa" "RNA capture sequencing (CaptureSeq)" "PMID:24705597" - "Small bowel Crohn's disease is a chronic inflammatory bowel disease affecting the small instestine." "MEDGEN:57617 MONDO:0005539 NANDO:1200445 UMLS:C0156146" "The amount of a EGF-like repeat and discoidin I-like domain-containing protein 3 when measured in blood serum." "ICD10:E75.0 UMLS:C0751489 OMIM:268800" "The age at which bipolar disorder manifestations first appear." @@ -31859,7 +31617,7 @@ "The determination of the amount of ubiquitin-fold modifier 1 in a sample" "PMID:28240269" - "An alpha,omega-dicarboxylic acid that is ethane substituted by carboxyl groups at positions 1 and 2." "Gmelin:2208 KNApSAcK:C00001198 Reaxys:385686 CAS:144-62-7 MetaCyc:OXALATE HMDB:HMDB0002329 Wikipedia:Oxalic_acid PDBeChem:OXD DrugBank:DB03902 LIPID_MAPS_instance:LMFA01170031 KEGG:C00209 Beilstein:385686 PMID:15587083 PMID:22735334" + "An alpha,omega-dicarboxylic acid that is ethane substituted by carboxyl groups at positions 1 and 2." "PMID:15587083 KNApSAcK:C00001198 LIPID_MAPS_instance:LMFA01170031 HMDB:HMDB0002329 PMID:22735334 KEGG:C00209 PDBeChem:OXD MetaCyc:OXALATE CAS:144-62-7 Wikipedia:Oxalic_acid Gmelin:2208 DrugBank:DB03902 Reaxys:385686" "A WHO grade I perineurioma that arises within the endoneurium. It is characterized by the formation of pseudo-onion bulbs by the proliferating perineural cells." "Orphanet:100003 icd11.foundation:362421359 SCTID:768934004 GARD:10921 UMLS:C1370658 NCIT:C6911 DOID:4696 MEDGEN:237162" @@ -31881,7 +31639,7 @@ "UMLS:C1838192 OMIM:600363 MeSH:C536866 ICD10:G11.4" "Inflammation of the bronchioles." "NCIt:C39658 SNOMEDCT_US:4120002 UMLS:C0006271 DOID:2942" "Mechanosensory organ, generally attached to the body wall and consisting of one or more scolopidia." "FBbt:00005215 MAT:0000209" - "A N-alkylglycine that is the N-methyl derivative of glycine. It is an intermediate in the metabolic pathway of glycine." "HMDB:HMDB0000271 PMID:19577367 KEGG:C00213 PMID:11272730 PMID:16154544 Beilstein:1699442 PMID:15023571 PMID:17901997 PMID:15331688 UM-BBD_compID:c0135 PMID:19433577 PMID:11850512 PMID:19619564 Wikipedia:Sarcosine Gmelin:2018 PMID:17095900 CAS:107-97-1 PMID:17190852 Reaxys:1699442 PMID:19944746 PDBeChem:SAR MetaCyc:SARCOSINE" + "A N-alkylglycine that is the N-methyl derivative of glycine. It is an intermediate in the metabolic pathway of glycine." "HMDB:HMDB0000271 PMID:19577367 KEGG:C00213 PMID:11272730 PMID:16154544 PMID:15023571 PMID:17901997 PMID:15331688 UM-BBD_compID:c0135 PMID:19433577 PMID:11850512 PMID:19619564 Wikipedia:Sarcosine Gmelin:2018 PMID:17095900 CAS:107-97-1 PMID:17190852 Reaxys:1699442 PMID:19944746 PDBeChem:SAR MetaCyc:SARCOSINE" "The amount of a calpain-9 when measured in blood serum." "The amount of a aminopeptidase NAALADL1 when measured in blood serum." @@ -31896,7 +31654,7 @@ "The amount of a ribonuclease H2 subunit A when measured in blood." "PMID:37794183" "A benign well-circumscribed paucicellular lesion arising from the soft tissues. It is characterized by the presence of fibroblasts, lymphoplasmacytic infiltrates, collagenous stroma formation, psammoma bodies, and dystrophic calcifications." "UMLS:C1332833 NCIT:C6488 MEDGEN:232021 EFO:1000148 MONDO:0006121" - "A phosphoamino acid consisting of creatine having a phospho group attached at the primary nitrogen of the guanidino group." "Drug_Central:3464 Wikipedia:Phosphocreatine Beilstein:1797096 PMID:14421251 PMID:1160340 PMID:11867929 PMID:5879486 MetaCyc:CREATINE-P CAS:67-07-2 PMID:13772879 PMID:13881337 KEGG:C02305 HMDB:HMDB0001511 Reaxys:1797096" + "A phosphoamino acid consisting of creatine having a phospho group attached at the primary nitrogen of the guanidino group." "Drug_Central:3464 Wikipedia:Phosphocreatine PMID:14421251 PMID:1160340 PMID:11867929 PMID:5879486 MetaCyc:CREATINE-P CAS:67-07-2 PMID:13772879 PMID:13881337 KEGG:C02305 HMDB:HMDB0001511 Reaxys:1797096" "UMLS:C1863704 OMIM:603563 MeSH:C536867 ICD10:G11.4" "GTR:AN0097757 MEDGEN:1643786 GTR:AN0097748 GTR:AN0195329 UMLS:C4551861 GTR:AN0097750 OMIM:187300" "A root development stage during which a radicle emerges from the seed coat." @@ -32001,7 +31759,7 @@ "Ptosis-strabismus-ectopic pupils syndrome is characterized by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant." "UMLS:C1867437 GARD:4577 MEDGEN:356778 Orphanet:2999 MESH:C566736 OMIM:178330" "SNOMEDCT:445561006" "Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy" "OMIM:615970" - "An aminophenol that is one of three amino derivatives of phenol which has the single amino substituent located meta to the phenolic -OH group." "PMID:1395635 Wikipedia:3-Aminophenol Gmelin:2913 Reaxys:636059 PMID:21399792 KEGG:C05058 Beilstein:636059 CAS:591-27-5" + "An aminophenol that is one of three amino derivatives of phenol which has the single amino substituent located meta to the phenolic -OH group." "PMID:1395635 Wikipedia:3-Aminophenol Gmelin:2913 Reaxys:636059 PMID:21399792 KEGG:C05058 CAS:591-27-5" "The amount of a protein FAM24B when measured in blood serum." "An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism." "DOID:0060042 SNOMEDCT:231536004 ICD10:F84" @@ -32087,7 +31845,7 @@ "A developmental and epileptic encephalopathy characterized by microcephaly, infantile onset of seizures and developmental delay that has material basis in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13." "DOID:0080457 UMLS:C3150667 Orphanet:228418 OMIM:613402 GARD:10933 MEDGEN:462017" "OBSOLETE. A disease caused by disturbed function of ion channel subunits or the proteins that regulate them." "MESH:D053447" "Anoxic encephalopathy resulting from acute CO intoxication, developing within 2-6 weeks of the poisoning event" "MONDO:0005493" - "A straight-chain saturated fatty acid anion that is the conjugate base of octanoic acid (caprylic acid); believed to block adipogenesis." "CAS:74-81-7 PMID:11983812 UM-BBD_compID:c0047 Gmelin:329219 Beilstein:3588079 Reaxys:3588079" + "A straight-chain saturated fatty acid anion that is the conjugate base of octanoic acid (caprylic acid); believed to block adipogenesis." "CAS:74-81-7 PMID:11983812 UM-BBD_compID:c0047 Gmelin:329219 Reaxys:3588079" "A dipeptide obtained by formal condensation of the gamma-carboxy group of glutamic acid with the amino group of glutamine" "Reaxys:1729785 PMID:7595563 HMDB:HMDB0011738 CAS:1466-50-8 KEGG:C05283" @@ -32217,7 +31975,7 @@ "The amount of a small VCP/p97-interacting protein when measured in blood serum." "The amount of a carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 1 when measured in blood serum." "A type of cutis laxa that is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." "OMIM:278250 MEDGEN:98030 icd11.foundation:638767040 Orphanet:2834 DOID:0112171 MESH:C536750 ICD9:259.8 SCTID:238875009 GARD:273 UMLS:C0406587" - "An alpha-amino acid that is pentanoic acid bearing two amino substituents at positions 2 and 5." "KEGG:C01602 Reaxys:1722296 KNApSAcK:C00001384 PMID:15449570 Beilstein:1722296 PMID:22264337 CAS:616-07-9 Gmelin:847696 PMID:17190852" + "An alpha-amino acid that is pentanoic acid bearing two amino substituents at positions 2 and 5." "KEGG:C01602 Reaxys:1722296 KNApSAcK:C00001384 PMID:15449570 PMID:22264337 CAS:616-07-9 Gmelin:847696 PMID:17190852" "UMLS:C0346104" "The sensitive vascular inner mesodermic layer of the skin." "MA:0000152 AAO:0000128 BTO:0000294 ZFA:0001119 FMA:70323 MAT:0000153 EMAPA:17527 EV:0100154 XAO:0000217 SAEL:27" @@ -32292,7 +32050,6 @@ "The division of the quadriceps muscle that covers the outer anterior aspect of the femur, arises chiefly from the femur, and inserts into the outer border of the patella by a flat tendon which blends with that of the other divisions of the muscle and sends an expansion to the capsule of the knee." "BTO:0001563 NCIt:C53073" "Any structural abnormality of the telencephalon, which is also known as the cerebrum." "UMLS:C4021762" - "A viral infectious disease that results_in_formation_of lesions, located_in mouth, located_in face, located_in genitalia, or located_in hands, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which are transmitted_by direct contact with an active lesion or body fluid of an infected person. [ url:http://en.wikipedia.org/wiki/Herpes_simplex url:http://www.aad.org/public/publications/pamphlets/viral_herpes_simplex.html ]" "ICD9:058.89 MONDO:0004609 ICD9:054 DOID:8566 MEDGEN:9234 SCTID:88594005 MESH:D006561 UMLS:C0019348 ICD10CM:B00" "A macrophage constitutively resident in a particular tissue under non-inflammatory conditions, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells." "FMA:84644 FMA:84642" "Quantification of early endosome antigen 1 in a sample." "PMID:29875488" "A state in which attention is largely directed outward from the self." "MeSH:D005120" @@ -32308,7 +32065,7 @@ "The amount of a peptidyl-prolyl cis-trans isomerase FKBP3 when measured in blood serum." "Gaucher's disease" "Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course." "ICD10:M93.2 OMIM:165700" - "The major postaxial endochondral bone in the anterior zeugopod[Phenoscape]." "SCTID:181948009 FMA:23466 VSAO:0005013 UMLS:C0041600 GAID:188 AAO:0000789 EMAPA:19104 MESH:D014457 Wikipedia:Ulna MA:0001358 galen:Ulna NCIT:C12809" + "The major postaxial endochondral bone in the anterior zeugopod[Phenoscape]." "FMA:23466 SCTID:181948009 VSAO:0005013 UMLS:C0041600 GAID:188 AAO:0000789 EMAPA:19104 MESH:D014457 Wikipedia:Ulna MA:0001358 galen:Ulna NCIT:C12809" "A neoplasm (disease) that involves the gall bladder." "MONDO:0021253 MeSH:D005706 MESH:D005706 NCIT:C3048 MEDGEN:42134 UMLS:C0016978" @@ -32365,10 +32122,9 @@ "UMLS:C0796076 OMIM:223540 ICD10:Q87.1" "MeSH:D013298 NCIt:C86806 SNOMEDCT:113993000" "ICD10:Q04.3" - "A unsaturated fatty acid anion that is the conjugate base of erucic acid, formed by deprotonation of the carboxylic acid group." "Reaxys:6116536 Beilstein:6116536 MetaCyc:CPD-14292 Gmelin:385960" + "A unsaturated fatty acid anion that is the conjugate base of erucic acid, formed by deprotonation of the carboxylic acid group." "Reaxys:6116536 MetaCyc:CPD-14292 Gmelin:385960" "A subtype of Charcot-Marie-Tooth disease with genetic defects on the X chromosome." "ICD9:356.9 Orphanet:64747 UMLS:C4551551 SCTID:230552007 MEDGEN:1637021 DOID:0050542 GARD:12444" "Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity." "UMLS:C5848084 MEDGEN:1845666 GARD:16621 ICD9:277.89 icd11.foundation:1647881428 SCTID:238048001 NORD:1693 Orphanet:3137 NANDO:1200134 DOID:0112317" - "Encephalitis caused by neurotropic viruses that are transmitted via the bite of TICKS. In Europe, the diseases are caused by ENCEPHALITIS VIRUSES, TICK-BORNE, which give rise to Russian spring-summer encephalitis, central European encephalitis, louping ill encephalitis, and related disorders. Powassan encephalitis occurs in North America and Russia and is caused by the Powassan virus. ASEPTIC MENINGITIS and rarely encephalitis may complicate COLORADO TICK FEVER which is endemic to mountainous regions of the western United States. (From Joynt, Clinical Neurology, 1996, Ch26, pp14-5)" "NCIT:C34579 MeSH:D004675 MONDO:0017572 ICD9:063.2 DOID:50175 UMLS:C0014061 GARD:5216 MESH:D004675 MEDGEN:4034 icd11.foundation:835129952 Orphanet:297 MedDRA:10043848 ICD9:063.9 ICD10:A84.9 DOID:0050175 MedDRA:10043847" "NCIt:C12782 FMA:7574" "Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." "ICD10:E70.3 OMIM:614075 OMIM:614074 OMIM:614072" "Any thrombocytopenia in which the cause of the disease is a mutation in the ETV6 gene." "OMIM:616216 MEDGEN:863974 UMLS:C4015537" @@ -32390,7 +32146,7 @@ "An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial." "NCIt:C142172" - "A glycoprotein migrating as a beta-globulin. Its molecular weight, 52,000 or 95,000-115,000, indicates that it exists as a dimer. The protein binds testosterone, dihydrotestosterone, and estradiol in the plasma. Sex hormone-binding protein has the same amino acid sequence as ANDROGEN-BINDING PROTEIN. They differ by their sites of synthesis and post-translational oligosaccharide modifications." "MeSH:D012738 NCIt:C17128" + "A glycoprotein migrating as a beta-globulin. Its molecular weight, 52,000 or 95,000-115,000, indicates that it exists as a dimer. The protein binds testosterone, dihydrotestosterone, and estradiol in the plasma. Sex hormone-binding protein has the same amino acid sequence as ANDROGEN-BINDING PROTEIN. They differ by their sites of synthesis and post-translational oligosaccharide modifications." "MeSH:D012738 Wikipedia:Sex_hormone-binding_globulin NCIt:C17128" "A dipeptide obtained by formal condensation of the carboxy group of L-histidine with the amino group of L-phenylalanine." "PMID:18343901 CAS:16874-81-0 HMDB:HMDB0028892 Reaxys:40775 PMID:24354419" "Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD247 gene." "OMIM:610163 MESH:C565712 GARD:18294 MEDGEN:346666 DOID:0060007 DOID:0111942 UMLS:C1857798" @@ -32454,7 +32210,6 @@ "A rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations." "GARD:7183 NANDO:2201193 Orphanet:87876 icd11.foundation:1855856697 NANDO:2201192 DOID:3343 SCTID:81896006 NANDO:1200118 UMLS:C4282398 OMIM:256150 OMIM:256550 NANDO:1200120 SCTID:70528007 SCTID:52186006 MESH:C562606 MEDGEN:924303 NCIT:C125596 NCIT:C61267" "CS57591 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158615&type=germplasm" - "a group of diseases whose hallmark is inflammation of subcutaneous adipose tissue (the fatty layer under the skin - panniculus adiposus). Symptoms include tender skin nodules, and systemic signs such as weight loss and fatigue." "ICD9:729.3 MEDGEN:45301 DOID:1526 MONDO:0006591 NCIT:C33645 MedDRA:10033680 MedDRA:10033681 MedDRA:10033675 MESH:D015434 Wikipedia:Panniculitis ICD9:729.39 UMLS:C0030326 ICD9:729.30 icd11.foundation:1056888958 SCTID:22125009" "Any of the 26-membered ring macrolides produced by Streptomyces species that can be toxic to other organisms through their ability to inhibit mitochondrial membrane-bound ATP synthases." "Wikipedia:Oligomycin" "The amount of a V-set and immunoglobulin domain-containing protein 10-like when measured in blood serum." @@ -32484,7 +32239,7 @@ "The amount of a DNA-directed RNA polymerases I and III subunit RPAC1 when measured in blood serum." "Natural killer (NK)-cell enteropathy is a benign NK-cell lymphoproliferative disease characterized by minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma." "SCTID:723496007 Orphanet:263665 UMLS:C4509932 GARD:20905 MEDGEN:1379183" - "An alpha-amino acid that consists of succinic acid bearing a single alpha-amino substituent" "Beilstein:774618 Reaxys:774618 PMID:22264337 CAS:617-45-8 KEGG:C16433 Wikipedia:Aspartic_acid Gmelin:185140" + "An alpha-amino acid that consists of succinic acid bearing a single alpha-amino substituent" "Reaxys:774618 PMID:22264337 CAS:617-45-8 KEGG:C16433 Wikipedia:Aspartic_acid Gmelin:185140" "MeSH:D014027" "MeSH:D054773 NCIt:C86792 SNOMEDCT:113986004" "An aromatic ether that consists of 1,3-thiazolidine-2,4-dione with position 5 substituted by a 4-[(1-methylcyclohexyl)methoxy]benzyl group. A selective PPARgamma agonist." "PMID:22177955 PMID:22174792 CAS:74772-77-3 PMID:21882481 CiteXplore:21354099 MeSH:C039671 LINCS:LSM-1911 KEGG:D03493 CiteXplore:21508362 PMID:20596077 PMID:21485077 CiteXplore:22131991 Wikipedia:Ciglitazone PMID:21344384 CiteXplore:22192353 PMID:21508362 CiteXplore:22007221 CiteXplore:20596077 KEGG DRUG:D03493 ChemIDplus:74772-77-3 CiteXplore:22177955 CiteXplore:22268140 CiteXplore:22193206 ChEMBL:101529 PMID:22131991 CiteXplore:21882481 PMID:22007221 CiteXplore:22174792 NCIt:C72726 CiteXplore:21067863 PMID:21681689 PMID:22193206 PMID:22268140 Reaxys:3623680 PMID:21067863 CiteXplore:21681689 CiteXplore:21344384 CiteXplore:21485077 PMID:22192353 PMID:21354099" @@ -32530,7 +32285,7 @@ "Quantification of spastin in a sample." "PMID:29875488" "A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present." "MONDO:0006823 MedDRA:10023463 NANDO:2200386 icd11.foundation:1937385304 SNOMEDCT:268300003 MeSH:D007713 ICD9:758.7 NCIT:C34752 NCIt:C34752 MESH:D007713 MEDGEN:44033 SCTID:405769009 DOID:1921 UMLS:C0022735" "A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus." "Orphanet:397695 UMLS:C4749427 MEDGEN:1651953 GARD:21633" - "A member of the class of rotenones that consists of 1,2,12,12a-tetrahydrochromeno[3,4-b]furo[2,3-h]chromen-6(6aH)-one substituted at position 2 by a prop-1-en-2-yl group and at positions 8 and 9 by methoxy groups (the 2R,6aS,12aS-isomer). A non-systemic insecticide, it is the principal insecticidal constituent of derris (the dried rhizome and root of Derris elliptica)." "Wikipedia:Rotenone PMID:32972993 LINCS:LSM-5260 PMID:19013527 Reaxys:99070 DrugBank:DB11457 PMID:15790535 PMID:33961406 PDBeChem:970 SNOMEDCT:55792003 PMID:33901458 PMID:17077549 PMID:14976342 HMDB:HMDB0034436 PMID:33402167 BPDB:587 KEGG:C07593 Patent:CN102090406 CAS:83-79-4 Beilstein:99070 VSDB:587 LIPID_MAPS_instance:LMPK12060007 Patent:CN102007944 FooDB:FDB012837 PMID:15043430 NCIt:C76087 KNApSAcK:C00002568 MeSH:D012402" + "A member of the class of rotenones that consists of 1,2,12,12a-tetrahydrochromeno[3,4-b]furo[2,3-h]chromen-6(6aH)-one substituted at position 2 by a prop-1-en-2-yl group and at positions 8 and 9 by methoxy groups (the 2R,6aS,12aS-isomer). A non-systemic insecticide, it is the principal insecticidal constituent of derris (the dried rhizome and root of Derris elliptica)." "Wikipedia:Rotenone PMID:32972993 LINCS:LSM-5260 PMID:19013527 Reaxys:99070 DrugBank:DB11457 PMID:15790535 PMID:33961406 PDBeChem:970 SNOMEDCT:55792003 PMID:33901458 PMID:17077549 PMID:14976342 HMDB:HMDB0034436 PMID:33402167 BPDB:587 KEGG:C07593 Patent:CN102090406 CAS:83-79-4 VSDB:587 LIPID_MAPS_instance:LMPK12060007 Patent:CN102007944 FooDB:FDB012837 PMID:15043430 NCIt:C76087 KNApSAcK:C00002568 MeSH:D012402" "A portion of meristem tissue (PO:0009013) that is part of a root apical meristem (PO:0020147) and consists of mitotically and metabolically inactive cells and is located behind the protoderm (PO:0006210) of the root (PO:0009005)." "Quantification of the ratio of 3-Indolepropionic acid to L-Pipecolic acid ratio in a sample." "PMID:33634981" "Quantification of the ratio of X-04499--3,4-dihydroxybutyrate to C-glycosyltryptophan in a sample." "PMID:24816252" @@ -32539,7 +32294,6 @@ "A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis." "ICD9:040.1 MONDO:0005945 MedDRA:10039102 UMLS:C0035468 MeSH:D012226 MEDGEN:20569 SCTID:72409005 DOID:11336 icd11.foundation:1053615368 MESH:D012226" "Quantification of urea in a sample." "PMID:33283231" - "Undifferentiated plant issue - the botanical equivalent of animal stem cells" "MAT:0000006 PO:0009013 BTO:0000852 MeSH:D018519" "OMIM:619733 UMLS:C5676909 MEDGEN:1812978 DOID:0081121" "Growth delay due to insulin-like growth factor I deficiency is characterized by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit." "MESH:C563867 Orphanet:73272 UMLS:C1837475 MEDGEN:373337 SCTID:724385009 OMIM:608747 GARD:10627" "OMIM:615722 ICD10:H47.2" @@ -32584,7 +32338,7 @@ "GARD:2638 OMIM:141500 DOID:0111181 UMLS:C1832884 MESH:C536890 MEDGEN:331388" "Quantification of cholesterol to total lipids in very large VLDL." "MeSH:D047270" - "A RNA extract that is the output of an extraction process in which RNA molecules with poly A tail at its 3' end are purified." + "A RNA extract that is the output of an extraction process in which RNA molecules with poly A tail at its 3' end are purified."@en "Quantification of the amount of proheparin-binding EGF-like growth factor in a sample" "PMID:33067605" @@ -32596,7 +32350,6 @@ "Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane and occurring within the cell. Includes ribosomes, the cytoskeleton and chromosomes." "The amount of a histone-lysine N-methyltransferase, H3 lysine-79 specific when measured in blood serum." "quantification of some aspect of the macula" "PMID:28835685" - "A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss." "UMLS:C0036508 ICD9:706.3 ICD9:690.1 DOID:8741 HP:0001051 MONDO:0006608 ICD10:L21 NCIT:C111888 ICD9:690.10 MEDGEN:19912 MedDRA:10039789 MESH:D012628 MedDRA:10039788" "A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger)." "UMLS:C0234376 UMLS:C4020856 SNOMEDCT_US:30721006" "Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers." "UMLS:C1850674" "Bay-0 is an Arabidopsis ecotype." @@ -32621,7 +32374,7 @@ "Quantification of the amount of N-acetylalanine in a sample." "PMID:35347128" "The amount of a Ipurolic acid when measured in blood serum." "A measure of non social behaviour used in behavioral studies to examine autistic like traits." - "A disorder characterized by a preoccupation with gambling and the excitement that gambling with increasing risk provides. Pathological gamblers are unable to cut back on their gambling, despite the fact that it may lead them to lie, steal, or lose a significant relationship, job, or educational opportunity." "NCIt:C94335 MedDRA:10034158 OMIM:606349 SCTID:18085000 ICD9:312.31 MEDGEN:14632 MONDO:0011662 MeSH:D005715 ICD10CM:F63.0 UMLS:C0030662 MESH:D005715 NCIT:C94335 DOID:12399 ICD9CM:312.31" + "A disorder characterized by a preoccupation with gambling and the excitement that gambling with increasing risk provides. Pathological gamblers are unable to cut back on their gambling, despite the fact that it may lead them to lie, steal, or lose a significant relationship, job, or educational opportunity." "NCIt:C94335 MedDRA:10034158 OMIM:606349 SCTID:18085000 ICD9:312.31 MEDGEN:14632 MONDO:0011662 UMLS:C0030662 MeSH:D005715 ICD10CM:F63.0 MESH:D005715 NCIT:C94335 DOID:12399 ICD9CM:312.31" "The determination of the ratio of hemoglobin Lepore compared to total hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage. [ NCI ]" "NCIt:C147357" "The determination of the amount of activated protein C in a sample" "PMID:28240269" "An intracellular signaling cassette characterized by the I-kappaB-kinase (IKK)-dependent activation of NF-kappaB, also known as the canonical NF-kappaB signaling cascade. The cascade begins with activation of a trimeric IKK complex (consisting of catalytic kinase subunits IKKalpha and/or IKKbeta, and the regulatory scaffold protein NEMO) and ends with the regulation of transcription of target genes by NF-kappaB. In a resting state, NF-kappaB dimers are bound to I-kappaB proteins, sequestering NF-kappaB in the cytoplasm. Phosphorylation of I-kappaB targets I-kappaB for ubiquitination and proteasomal degradation, thus releasing the NF-kappaB dimers, which can translocate to the nucleus to bind DNA and regulate transcription. The canonical NF-kappaB pathway is mainly stimulated by proinflammatory cytokines such as IL-1beta, tumor necrosis factor (TNF)-alpha, antigen ligands, and toll-like receptors (TLRs)." @@ -32696,7 +32449,7 @@ "The amount of a ectonucleoside triphosphate diphosphohydrolase 6 when measured in blood serum." "Being approximately average or within certain limits; conforming with or constituting a norm or standard or level or type or social norm." "MeSH:D006262 NCIt:C14165 SNOMEDCT:17621005" "The amount of a phosphatidylinositide phosphatase SAC2 when measured in blood serum." - "A 2-amino-3-methylpentanoic acid having either (2R,3R)- or (2S,3S)-configuration." "PMID:17190852 CAS:443-79-8 Beilstein:1721790 Reaxys:1721790" + "A 2-amino-3-methylpentanoic acid having either (2R,3R)- or (2S,3S)-configuration." "PMID:17190852 CAS:443-79-8 Reaxys:1721790" "An acute, acute and chronic, or chronic inflammation focally or diffusely affecting the lung parenchyma, caused by an infection in one or both of the lungs (by bacteria, viruses, fungi, or mycoplasma.). Symptoms include cough, shortness of breath, fevers, chills, chest pain, headache, sweating, and weakness." "SCTID:233604007 UMLS:C0032285 MedDRA:10035664 MeSH:D011014 ICD10CM:J18.9 MONDO:0005249 ICD10:J18 NCIt:C3333 DOID:552 ICD9:483.8 MedDRA:10035739 ICD10CM:J15 ICD9:483 icd11.foundation:142052508 ICD9:486 ICD9:484.8 NCIT:C3333 SNOMEDCT:233604007 MEDGEN:10813 MESH:D011014" "The amount of a tripartite motif-containing protein 26 when measured in blood." "PMID:37794183" "Cells isolated from colonic biopsy of 'patient 2' (Roig et al 2010), and immortalized by expression of Cdk4 and hTERT." "PMID:19962984" @@ -32748,7 +32501,7 @@ "Quantification of uncharacterized protein KIAA0040 in a sample." "PMID:29875488" "Any vein not in the chest or abdomen." "An inherited autosomal recessive trait, characterized by peripheral resistance to thyroid hormones and the resulting elevation in serum levels of thyroxine and triiodothyronine." "NANDO:2100121 MEDGEN:424854 NANDO:1200395 DOID:11633 MESH:D018382 UMLS:C2940786 ICD9:259.8 SCTID:111567006 NANDO:2200341" - "The thin innermost layer of the extraembryonic membranes that contains the amniotic fluid; the membrane forms a closed sac in which the embryo and later, the fetus, is suspended and protected." "EMAPA:16109 BTO:0000065 MESH:D000650 EV:0100122 Wikipedia:Amnion SCTID:181457005 VHOG:0000721 CALOHA:TS-0033 EHDAA:136 GAID:1298 NCIT:C12365 UMLS:C0002630 FMA:80223 EHDAA2:0000116" + "The thin innermost layer of the extraembryonic membranes that contains the amniotic fluid; the membrane forms a closed sac in which the embryo and later, the fetus, is suspended and protected." "EHDAA2:0000116 EMAPA:16109 BTO:0000065 MESH:D000650 EV:0100122 Wikipedia:Amnion SCTID:181457005 VHOG:0000721 CALOHA:TS-0033 EHDAA:136 GAID:1298 NCIT:C12365 UMLS:C0002630 FMA:80223" "An autosomal dominant neurodevelopmental condition related to variants in CACNA1D. Most reported variants are de novo and functional studies have indicated a gain-of-function disease mechanism. This condition is characterized by developmental delay/intellectual disability, autism spectrum disorder, hypotonia and seizures. Other reported features include endocrine abnormalities such as primary aldosteronism and congenital hyperinsulinemic hypoglycemia, self-injurious behavior, facial dysmorphisms, and heart defects." "OMIM:615474 UMLS:C3809609 MEDGEN:815939 GARD:17591 Orphanet:369929" "Any endothelial cell of vascular tree that is part of some lung." @@ -32797,7 +32550,6 @@ "The length of the barcode in nucleotides." "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" "A parasitic helminthiasis infectious disease that involves infection of the anus by the pinworm Enterobius vermicularis. The major symptom is perianal itching. Infected people experience perianal pruritus and excoriations from scratching." "MedDRA:10014881 ICD9:127.4 MESH:D017229 SCTID:266162007 MEDGEN:88540 ICD10:B80 ICD10CM:B80 NCIT:C128396 icd11.foundation:580098307 MeSH:D010123 SNOMEDCT:266162007 UMLS:C0086227 MeSH:D017229 DOID:7457 MONDO:0005746" - "A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions." "MEDGEN:4344 MESH:D004184 icd11.foundation:1349492056 DOID:1082 ICD9:125.6 GARD:11908 SCTID:73328005 MedDRA:10080290 MONDO:0015636 MeSH:D004184 UMLS:C0012602 Orphanet:166291" "The fifth set of paired nerves of the face that emerge from the brain steam. These nerves have sensory and motor functions in the face, oral cavity, and nasal cavity." "BTO:0001072 NCIt:C12806" "The amount of a G-patch domain and KOW motifs-containing protein when measured in blood." "PMID:37794183" @@ -32808,7 +32560,6 @@ "The determination of the amount of pyridoxal in a blood sample" "PubChem:1050 KEGG COMPOUND:C00250 CAS:65-22-5" "An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals." "UMLS:C0025534 MEDGEN:6325 MESH:D008664 DOID:896" - "A condition occurring in the female offspring of dizygotic twins (TWIN, DIZYGOTIC) in a mixed-sex pregnancy, usually in CATTLE. Freemartinism can occur in other mammals. When placental fusion between the male and the female FETUSES permits the exchange of fetal cells and fetal hormones, TESTICULAR HORMONES from the male fetus can androgenize the female fetus producing a sterile XX/XY chimeric \"female\"(CHIMERISM)." "MESH:D005611 MeSH:D005611 MONDO:0006762 DOID:4671" "Orphanet:3294 GARD:2597 UMLS:C1861237 OMIM:187390 MESH:C566068 MEDGEN:348302" "NCIt:C117174" @@ -32847,7 +32598,6 @@ "ICD10:E88.1" "GLUT1 deficiency syndrome is a disorder affecting the nervous system that can have a variety of neurological signs and symptoms." "Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported." "UMLS:C4706935 SCTID:764500002 Orphanet:96107 GARD:19321 MEDGEN:1636588" - "INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis." "UMLS:C0030305 NCIT:C3306 SNOMEDCT:75694006 MONDO:0004982 MeSH:D010195 DOID:4989 NCIt:C3306 MEDGEN:14586 MedDRA:10033645 SCTID:75694006 MESH:D010195" "Virus diseases caused by coronaviridae." "UMLS:C0010078 MEDGEN:40491 MeSH:D003333 DOID:2948 MONDO:0005718" "CLO:0009902 NCIt:C117169 BTO:0003772 RRID:CVCL_1689" "Quantification of killer cell immunoglobulin-like receptor 2DL5A in a sample." "PMID:29875488" @@ -32887,7 +32637,7 @@ "An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs." "ICD9:270.2 SCTID:190694001 DOID:9275 UMLS:C0268483 MEDGEN:78682 NCIT:C98640 MESH:D020176 ICD10CM:E70.21 OMIMPS:276700" "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome, is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females." "Orphanet:247775 OMIM:277000 GARD:4737 UMLS:C5566555 MEDGEN:1797978 ICD9:752.49 DOID:0112178" - "A (2S)-2-hydroxy monocarboxylic acid anion resulting from the removal of a proton from the carboxylic acid group of (S)-3-phenyllactic acid." "Beilstein:5740554 Reaxys:5740554" + "A (2S)-2-hydroxy monocarboxylic acid anion resulting from the removal of a proton from the carboxylic acid group of (S)-3-phenyllactic acid." "Reaxys:5740554" "A rhombomere floor plate that is part of a rhombomere 2." "DMBA:17091 EMAPA:16294 ZFA:0000763 EFO:0003568 TAO:0000763 EHDAA2:0001650" @@ -32915,9 +32665,8 @@ "Quantification of the amount of X-17162 in a sample." "PMID:35347128" "Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the GDF1 gene." "DOID:0060772 UMLS:C3151221 MEDGEN:462571 OMIM:613854" - "A specimen that has been modified in order to be able to detect it in future experiments" + "A specimen that has been modified in order to be able to detect it in future experiments"@en "quantification of the time point at which insulin secretion is highest" - "A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells in a myxoid stroma." "MESH:D009232 MONDO:0006086 ICD9:215.9 UMLS:C5551004 ICDO:8841/0 EFO:1000087 ICDO:8841/1 SCTID:404083008 UMLS:C0027149 NCIT:C3254 MEDGEN:1790210" "ICD10:Q89.3" "A paired appendage that is evolved from a paired fin. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the girdle and its parts." "VHOG:0000336 VSAO:0000121 AAO:0010336 FMA:24875 AEO:0000172 CALOHA:TS-0552 EFO:0000876 GAID:36 Wikipedia:Limb MAT:0000090 SCTID:243996003 galen:Extremity EHDAA:1697 NCIT:C12429 UMLS:C0015385 XAO:0003027 MESH:D005121 EHDAA:8273 EHDAA2:0003172 EMAPA:16405 MA:0000007 MIAA:0000090" "A plant structure (PO:0009011) that is the basal portion of a carpel (PO:0009030) or group of fused carpels and encloses the plant ovule(s) (PO:0020003)." @@ -32926,7 +32675,7 @@ "Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies." "Orphanet:1114 HP:0001057 ICD9:757.39 DOID:0080661 MEDGEN:79390 NORD:794 OMIM:107600 GARD:5835 icd11.foundation:350175828 UMLS:C0282160 SCTID:35484002 NCIT:C98822" "Quantification of the amount of Tauroursodeoxycholic acid in a sample." "PMID:33634981" "A squamous cell carcinoma that involves the body of uterus." "GARD:20479 MEDGEN:1633992 Orphanet:213716 UMLS:C4707099 ICD10CM:C50" - "An octadecadienoic acid in which the two double bonds are at positions 9 and 12 and have Z (cis) stereochemistry." "Drug_Central:3323 PDBeChem:EIC KEGG:C01595 PMID:15969511 PMID:15115315 MeSH:D019787 PMID:18044828 PMID:17647039 PMID:6205897 PMID:18990554 PMID:14993245 KNApSAcK:C00001224 PMID:15642793 Reaxys:1727101 CAS:60-33-3 Beilstein:1727101 PMID:24081493 HMDB:HMDB0000673 SNOMEDCT:8822004 PMID:19628674 PMID:11113630 PMID:16254037 PMID:19936816 NCIt:C615 Wikipedia:Linoleic_acid PMID:23900039 PMID:11322990 PMID:14667063 PMID:11304127 PMID:16563718 LIPID_MAPS_instance:LMFA01030120 MetaCyc:LINOLEIC_ACID Gmelin:57557" + "An octadecadienoic acid in which the two double bonds are at positions 9 and 12 and have Z (cis) stereochemistry." "Drug_Central:3323 PDBeChem:EIC KEGG:C01595 PMID:15969511 PMID:15115315 MeSH:D019787 PMID:18044828 PMID:17647039 PMID:6205897 PMID:18990554 PMID:14993245 KNApSAcK:C00001224 PMID:15642793 Reaxys:1727101 CAS:60-33-3 PMID:24081493 HMDB:HMDB0000673 SNOMEDCT:8822004 PMID:19628674 PMID:11113630 PMID:16254037 PMID:19936816 NCIt:C615 Wikipedia:Linoleic_acid PMID:23900039 PMID:11322990 PMID:14667063 PMID:11304127 PMID:16563718 LIPID_MAPS_instance:LMFA01030120 MetaCyc:LINOLEIC_ACID Gmelin:57557" "The amount of a small integral membrane protein 10 (human) when measured in blood serum." "SNOMEDCT:243447003 NCIt:C87523" "Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977." "UMLS:C0796198 MEDGEN:1392915 Orphanet:3448 GARD:5545" @@ -33017,7 +32766,6 @@ "A respiratory disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease." "GARD:17762 DOID:0081242 Orphanet:444092 NORD:1973 OMIM:616414 UMLS:C5243948 MEDGEN:1800821" "The amount of a heparan sulfate 2-O-sulfotransferase 1 when measured in blood serum." "Autosomal recessive form of intermediate Charcot-Marie-Tooth disease." "UMLS:C5679732 GARD:12452 Orphanet:268337 MEDGEN:1843095" - "Condition characterized by splenomegaly, some reduction in the number of circulating blood cells in the presence of a normal or hyperactive bone marrow, and the potential for reversal by splenectomy." "SNOMEDCT:58381000 NCIT:C34714 DOID:6376 MEDGEN:9372 ICD10CM:D73.1 NCIt:C34714 HP:0001971 MONDO:0006795 UMLS:C0020532 MeSH:D006971 icd11.foundation:2093549625 MESH:D006971 ICD9:289.4 MedDRA:10020769 NANDO:2200637 SCTID:58381000" "Quantification of the amount of docosapentaenoate (n6 DPA; 22:5n6) in a sample." "PMID:35347128" @@ -33082,7 +32830,7 @@ "14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism." "ICD10:Q93.5 OMIM:613457" "A benign neoplasm that involves the pancreas." "NCIT:C4612 MEDGEN:91126 icd11.foundation:1870352651 SCTID:92264007 UMLS:C0347284 ICD10CM:D13.6" "Gamma-glutamylcysteine synthetase deficiency is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported." "UMLS:C1856603 Orphanet:33574 OMIM:230450 MEDGEN:347272 SCTID:36799008 GARD:16631 DOID:0111681 ICD9:270.8 MESH:C565557" - "A sexually transmitted papillary growth caused by the human papillomavirus. It usually arises in the skin and mucous membranes of the perianal region and external genitalia." "ICD9:078.11 NCIT:C4820 DOID:11168 UMLS:C0554632 MONDO:0005647 MEDGEN:108217 MeSH:D003218 SCTID:266113007 MESH:D003218" + "A sexually transmitted papillary growth caused by the human papillomavirus. It usually arises in the skin and mucous membranes of the perianal region and external genitalia." "MeSH:D003218 ICD9:078.11 NCIT:C4820 UMLS:C0554632 SCTID:266113007 DOID:11168 MESH:D003218 MEDGEN:108217 MONDO:0005647" "The amount of a selenocysteine lyase when measured in blood serum." "The amount of a thyroid transcription factor 1-associated protein 26 when measured in blood serum." "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of water." @@ -33106,7 +32854,6 @@ "The amount of a protein phosphatase 1 regulatory subunit 12B when measured in blood." "PMID:37794183" "The amount of a COP9 signalosome complex subunit 5 when measured in blood serum." - "Rheumatoid arthritis is a rheumatologic disorder described as an autoimmune disease that is usually a chronic disease and is characterized especially by pain, stiffness, inflammation, swelling, and sometimes destruction of joints." "SNOMEDCT:69896004 icd11.foundation:576319925 NCIT:C2884 MEDGEN:2078 ICD10:M05 Orphanet:284130 MedDRA:10039073 MONDO:0008383 MeSH:D001172 ICD9:714.0 NCIt:C2884 UMLS:C0003873 ICD10:M06 OMIM:180300 SCTID:69896004 OMIM:604302 MESH:D001172 DOID:7148 MedDRA:10037740 HP:0001370" "NCIt:C72668" "Quantification of the amount of 9-hydroxystearate in a sample." "PMID:35347128" "A granulomatous disease caused by klebsiella rhinoscleromatis infection. Despite its name, this disease is not limited to the nose and nasopharynx but may affect any part of the respiratory tract, sometimes with extension to the lip and the skin." "ICD9:040.1 MONDO:0005945 MedDRA:10039102 UMLS:C0035468 MeSH:D012226 MEDGEN:20569 SCTID:72409005 DOID:11336 icd11.foundation:1053615368 MESH:D012226" @@ -33184,7 +32931,6 @@ "Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin." "Whole-transcript amplification for single-cells (Quartz-Seq)." "PMID:23594475" - "A chronic systemic disease, primarily of the joints, marked by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. Etiology is unknown, but autoimmune mechanisms have been implicated." "SNOMEDCT:69896004 icd11.foundation:576319925 NCIT:C2884 MEDGEN:2078 ICD10:M05 Orphanet:284130 MedDRA:10039073 MONDO:0008383 MeSH:D001172 ICD9:714.0 NCIt:C2884 UMLS:C0003873 ICD10:M06 OMIM:180300 SCTID:69896004 OMIM:604302 MESH:D001172 DOID:7148 MedDRA:10037740 HP:0001370" "Orphanet:397755" "Frontootopalatodigital syndrome is a group of congenital anomalies that span a broad range of clinical severity. This group include different conditions ranging from otopalatodigital syndrome type 1 (OPD1) which is characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and a skeletal dysplasia, to osteodysplasty, Melnick-Needles type (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in males. Within this spectrum includes otopalatodigital syndrome type 2 (OPD2), frontometaphyseal dysplasia (FMD) and Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of MNS) (see these terms)." @@ -33220,7 +32966,6 @@ "The nutrient fluid produced by the mammary gland of a female mammal for the nourishment of her young and consumed by her offspring or a fosterling of the same species." "Stage 11 begins with the invagination of the tracheal placodes. Para-segmental furrow form and segment boundary furrows become deep folds. Within the head, gnathal protuberances become apparent. The end of this stage is signaled by the appearance of a distinct cleft at the posterior pole of the embryo, which becomes detached from the vitelline membrane. This marks the beginning of germ-band retraction. Duration at 25 degrees C: approximately 120 minutes (320-440 minutes after egg laying)." "FBdv:00005325" - "Inflammation of the iris characterized by circumcorneal injection, aqueous flare, keratotic precipitates, and constricted and sluggish pupil along with discoloration of the iris." "SCTID:65074000 SNOMEDCT:65074000 DOID:1406 MESH:D007500 MeSH:D007500 MONDO:0006814 NCIT:C50621 HP:0001101 UMLS:C0022081 MEDGEN:7160 MedDRA:10022955 NCIt:C50621" "ICD10:G12.2" "Quantification of the amount of oleate (18:1) in a sample." "PMID:35347128" "X-linked form of Dyggve-Melchior-Clausen disease." "UMLS:C1844654 MEDGEN:337052 GARD:15290 OMIM:304950" @@ -33233,6 +32978,7 @@ "Tuberculosis that involves any region of the gastrointestinal tract, mostly in the distal ileum and the cecum. In most cases, mycobacterium tuberculosis is the pathogen. Clinical features include abdominal pain; fever; and palpable mass in the ileocecal area." "MEDGEN:52885 MESH:D014385 ICD9:014.80 ICD9:014.81 MeSH:D014385 SCTID:186225008 MONDO:0005768 UMLS:C0041312 DOID:404 ICD9:014.86" "GARD:21634 UMLS:C4751573 Orphanet:397750 MEDGEN:1670241" "Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." "ICD10:E76.0 OMIM:607014" + "a specimen that is output of a paraffin storage process in which specimen is embedded in paraffin"@en "a specimen that is output of a paraffin storage process in which specimen is embedded in paraffin" "A group of neoplasms composed of T-lymphocytes with a mature (peripheral/post-thymic) immunophenotypic profile and/or NK-cells." "EFO:0002426 NCIT:C27909 ONCOTREE:MTNN MEDGEN:233675 UMLS:C1334640 MONDO:0005169" "The result of a measurement of circulating antibodies specific to a bacteroidaceae antigen." "PMID:37164013" @@ -33315,7 +33061,7 @@ "A disorder characterized by the degeneration of the nervous system due to autoimmunity. Representative examples include multiple sclerosis, Guillain-Barre syndrome, and myasthenia gravis." "UMLS:C0751871 MEDGEN:155946 NCIT:C99383 DOID:438 MESH:D020274" "Quantification of the amount of 2-stearoyl-GPE (18:0) in a sample." "PMID:35347128" - "A sesquiterpene lactone and active principle of Feverfew (Tanacetum parthenium)." "PMID:23876538 PMID:19201992 PMID:16778086 PMID:19949351 PMID:23192276 PMID:12417429 CAS:20554-84-1 PMID:19555300 PMID:23898080 Beilstein:3550011 PMID:15987517 PMID:11410248 PMID:14501955 PMID:11837788 PMID:11961112 PMID:17986299 Reaxys:3550011 PMID:23688583 PMID:23797801 PMID:23792430 PMID:17051330 NCIt:C90306 PMID:12628675 Wikipedia:Parthenolide LIPID_MAPS_instance:LMPR0103090002 PMID:15616293 PMID:17200339 KNApSAcK:C00003345 MeSH:C002669 PMID:23264600 PMID:23933184 PMID:23746953 PMID:22688575 NCIt:C28776 KEGG:C07609 PMID:23065294 PMID:15501437" + "A sesquiterpene lactone and active principle of Feverfew (Tanacetum parthenium)." "PMID:23876538 PMID:19201992 PMID:16778086 PMID:19949351 PMID:23192276 PMID:12417429 CAS:20554-84-1 PMID:19555300 PMID:23898080 PMID:15987517 PMID:11410248 PMID:14501955 PMID:11837788 PMID:11961112 PMID:17986299 Reaxys:3550011 PMID:23688583 PMID:23797801 PMID:23792430 PMID:17051330 NCIt:C90306 PMID:12628675 Wikipedia:Parthenolide LIPID_MAPS_instance:LMPR0103090002 PMID:15616293 PMID:17200339 KNApSAcK:C00003345 MeSH:C002669 PMID:23264600 PMID:23933184 PMID:23746953 PMID:22688575 NCIt:C28776 KEGG:C07609 PMID:23065294 PMID:15501437" "Neuromast that is part of the posterior lateral line. Kimmel et al, 1995. (Also see Anatomical Atlas entry for lateral line by T. Whitfield.)." "ZFA:0000940" "The amount of a glutathione hydrolase 5 proenzyme when measured in blood serum." "Acquired diminution of the size of the thymus associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes." "MP:0003644" @@ -33330,7 +33076,7 @@ "Unexpected death in infancy which remains unexplained following autopsy, review of the medical history, and investigation of the death circumstances and death scene." "DOID:9007 SNOMEDCT:51178009 NCIt:C85173 ICD9:798.0 MedDRA:10042440 OMIM:272120 MedDRA:10042439" "The amount of a MICOS complex subunit MIC10 when measured in blood serum." - "A dicarboxylic acid dianion resulting from the removal of a proton from both of the carboxy groups of succinic acid." "PMID:17190852 UM-BBD_compID:c0312 CAS:56-14-4 Beilstein:1863859 Reaxys:1863859 MetaCyc:SUC Gmelin:240255" + "A dicarboxylic acid dianion resulting from the removal of a proton from both of the carboxy groups of succinic acid." "PMID:17190852 UM-BBD_compID:c0312 CAS:56-14-4 Reaxys:1863859 MetaCyc:SUC Gmelin:240255" "Any deviation from the normal concentration of a serine family amino acid in the blood circulation." "UMLS:C4023671" "Is a quantification of VEGF, a growth factor involved in angiogenesis and a biomarker for cancer." "NCIt:C92514" @@ -33391,7 +33137,6 @@ "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the MORC2 gene." "MEDGEN:1800448 DOID:0110181 OMIM:616688 UMLS:C5569025 Orphanet:466768 GARD:17829" "Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss." "MEDGEN:581442 icd11.foundation:1764644031 Orphanet:137867 UMLS:C0393551 GARD:19887" - "Blocking of the PULMONARY ARTERY or one of its branches by an EMBOLUS." "MONDO:0005279 SNOMEDCT:59282003 MeSH:D011655 DOID:9477 HP:0002204 NCIT:C50713 SCTID:59282003 MedDRA:10037377 UMLS:C0034065 ICD10:I26 NCIt:C50713 MEDGEN:11027 ICD9:415.19 MESH:D011655" "OMIM:614526 ICD10:Q92.3" @@ -33426,7 +33171,6 @@ "The determination of the amount of SLAM family member 5 in a sample" "PMID:28240269" "A measurement of the connecting peptide, or C-peptide - a short 31-amino-acid polypeptide that connects insulin's A-chain to its B-chain in the proinsulin molecule. C-peptide measurements may be made for clinical diagnostics.\n\nAs a means of distinguishing type 1 diabetes from type 2 diabetes or Maturity onset diabetes of the young (MODY).\n\nTo determine how much of their own natural insulin a person is producing as C-peptide is secreted in equimolar amounts to insulin.\n\nC-peptide may be used for determining the possibility of gastrinomas associated with Multiple Endocrine Neoplasm syndromes.\n\nC-peptide levels may be checked in women with Polycystic Ovarian Syndrome (PCOS) to help determine degree of insulin resistance" "NCIt:C74736" - "a device that is used for automated liquid transfer and handling." "MO:868" "DOID:0111697 MEDGEN:318752 OMIM:600987 UMLS:C1832950 MESH:C563414" "The amount of a centrin-1 when measured in blood serum." @@ -33455,7 +33199,6 @@ "An outward deviation of the foot at the talocalcaneal or subtalar joint." "UMLS:C1578482 SNOMEDCT_US:275344002 SNOMEDCT_US:249803006" "A hypercalcemia disease that occurs between 28 days to one year of life." "OMIMPS:143880 SCTID:276645004 MEDGEN:1380840 SCTID:34225008 NCIT:C129734 MESH:C562999 Orphanet:300547 UMLS:C4329374 GARD:17374" - "A contact dermititis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign." "NCIT:C26998 MONDO:0006525 ICD10:L23 MESH:D017449 MedDRA:10056265 DOID:3042 UMLS:C0162820 icd11.foundation:2020673786 ICD9:692.9 ICD10CM:L23 SCTID:238575004 MEDGEN:102474" "One of two branches of the trachea." "SCTID:245508000 Wikipedia:Main_bronchus FMA:7405 NCIT:C12284 EHDAA:3072 MA:0000438 UMLS:C0024496 VHOG:0000370 EHDAA2:0001044 EMAPA:16849" "A medial cleft or depression dividing the left and right protocerebrum and containing numerous large and small somata of neurosecretory and neuromodulatory neurons." "MAT:0000337 FBbt:00005802" @@ -33495,7 +33238,7 @@ "A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma." "DOID:3861 NCIT:C3706 ICDO:9472/3 MEDGEN:104731 EFO:1000368 MONDO:0006300 UMLS:C0205833 ONCOTREE:MMB" "Quantification of the amount of X-12771 in a sample." "PMID:24816252" - "NCIt:C117189 MCC:0000426 RRID:CVCL_0526 CLO:0009043 BTO:0002131" + "NCIt:C117189 RRID:CVCL_0526 MCC:0000426 CLO:0009043 BTO:0002131" "The amount of a normal mucosa of esophagus-specific gene 1 protein when measured in blood serum." "Waardenburg syndrome type 2 (WS2) is an autosomal dominant subtype of Waardenburg syndrome (WS), characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum." "UMLS:C2700265 MEDGEN:398443 MESH:C536463 GARD:5520 ICD10CM:E70.3 Orphanet:895 icd11.foundation:746815303 NCIT:C75009" @@ -33573,12 +33316,11 @@ "MEDGEN:1698793 UMLS:C5229849 GARD:10892 Orphanet:293642" "Quantification of proenkephalin-A in a sample." "PMID:29875488" "The determination of the amount of ephrin type-b receptor 4 in a sample" "PMID:28240269" - "A linear tetrapyrrole produced in the reticuloendothelial system by the first step of heme degradation, catalysed by heme oxygenase." "Reaxys:74351 Beilstein:74351 PMID:14977878 HMDB:HMDB0001008 Wikipedia:Biliverdin PMID:19617398 PDBeChem:BLA KEGG:C00500 CAS:114-25-0 DrugBank:DB02073" + "A linear tetrapyrrole produced in the reticuloendothelial system by the first step of heme degradation, catalysed by heme oxygenase." "Reaxys:74351 PMID:14977878 HMDB:HMDB0001008 Wikipedia:Biliverdin PMID:19617398 PDBeChem:BLA KEGG:C00500 CAS:114-25-0 DrugBank:DB02073" "In vascular diseases, endothelial dysfunction is a systemic pathological state of the endothelium (the inner lining of blood vessels) and can be broadly defined as an imbalance between vasodilating and vasoconstricting substances produced by (or acting on) the endothelium. Normal functions of endothelial cells include mediation of coagulation, platelet adhesion, immune function and control of volume and electrolyte content of the intravascular and extravascular spaces." "Wikipedia:Endothelial_dysfunction MedDRA:10048554" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SGCD gene." "MESH:C564679 DOID:0110436 UMLS:C1847667 MEDGEN:335735 GARD:15397 OMIM:606685" "quantification of the amount of fibroblast growth factor 2 in a sample" "Quantification of cholesteryl esters to total lipids in medium LDL." - "seborrheic keratosis is a noncancerous benign skin growth that originates in keratinocytes. Like liver spots, seborrheic keratoses are seen more often as people age. In fact, they are sometimes humorously referred to as the \"barnacles of old age\".\n\nThe lesions appear in various colors, from light tan to black. They are round or oval, feel flat or slightly elevated (like the scab from a healing wound), and range in size from very small to more than 2.5 centimetres (1 in) across. They can resemble warts,[4] though they have no viral origins. They can also resemble melanoma skin cancer, though they are unrelated to melanoma. Because only the top layers of the epidermis are involved, seborrheic keratoses are often described as having a \"pasted on\" appearance." "MeSH:D017492 DOID:6498 MONDO:0008420 MedDRA:10039791 NCIT:C9006 ICD10:L82 MEDGEN:5957 Wikipedia:Seborrheic_keratosis NCIt:C9006 UMLS:C0022603 OMIM:182000 SNOMEDCT:398838000 SCTID:398838000 MESH:D017492 ICD10CM:L82 ICD9:702.1 SNOMEDCT:25499005" "A basal part of the diencephalon that lies beneath the thalamus on each side, forms the floor of the third ventricle, and includes vital autonomic regulatory centers.nThe ventral part of the diencephalon that forms the floor and part of the lateral wall of the third ventricle. Anatomically, it includes the preoptic area, optic tract, optic chiasm, mammillary bodies, tuber cinereum, infundibulum, and neurohypophysis, but for physiological purposes the neurohypophysis is considered a distinct structure. The hypothalamus may be divided into five regions or areas (area hypothalamica rostralis, area hypothalamica dorsalis, area hypothalamica intermedia, area hypothalamica lateralis and area hypothalamica posterior) or into three longitudinal zones (periventricular zone, medial zone, and lateral zone). The hypothalamic nuclei constitute that part of the corticodiencephalic mechanism that activates, controls and integrates the peripheral autonomic mechanisms, endocrine activity, and many somatic functions, e.g., a general regulation of water balance, body temperature, sleep, and food intake, and the development of secondary sex characteristics. The hypothalamus secretes vasopressin and oxytocin, which are stored in the pituitary, as well as many releasing factors (hypophysiotropic hormones), by means of which it exerts control over functions of the adenohypophysis." "EV:0100225 NIFSTD:birnlex_734 SAEL:52 EMAPA:17536 BTO:0000614 ZFA:0000032 TAO:0000032 FMA:62008 EHDAA:5446 NCIt:C22616 MA:0000173 MAT:0000112" "Hypomelanosis of Ito (HI) is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines." "NORD:1274 OMIM:300337 MEDGEN:5920 GARD:2992 Orphanet:435 UMLS:C0022283 DOID:3156" @@ -33594,7 +33336,7 @@ "A migraine disorder characterized by an aura that includes motor weakness and the absence of family history." "icd11.foundation:1303340532 NCIT:C117011 MEDGEN:318737 UMLS:C1832903" "quantification of the amount of granzyme A in a sample" - "D-Ribitol in which the hydroxy group at position 5 is substituted by a 7,8-dimethyl-2,4-dioxo-3,4-dihydrobenzo[g]pteridin-10(2H)-yl moiety. It is a nutritional factor found in milk, eggs, malted barley, liver, kidney, heart, and leafy vegetables, but the richest natural source is yeast. The free form occurs only in the retina of the eye, in whey, and in urine; its principal forms in tissues and cells are as flavin mononucleotide and flavin-adenine dinucleotide." "PMID:8604671 Wikipedia:Riboflavin PMID:3142982 Drug_Central:2834 Chemspider:431981 PMID:7883462 PMID:8678471 PMID:33886098 PMID:4019261 KEGG:D00050 PMID:16460756 PMID:8487103 PMID:19169240 KNApSAcK:C00001552 PMID:6546833 PMID:7101408 PMID:3592624 PMID:22770225 PMID:25468971 PMID:24816110 PMID:33304888 Beilstein:97831 PMID:10566553 KEGG:C00255 PMID:3878498 PMID:2631092 Reaxys:97831 PMID:6650303 PMID:16273338 PMID:9874201 PMID:11606856 DrugBank:DB00140 Patent:US2876169 PMID:16658098 FooDB:FDB012160 PMID:25887755 PMID:14963913 PMID:34156642 PMID:18832377 PMID:33892358 PMID:29937405 PMID:11399071 PMID:9184778 PMID:25108762 PMID:23818044 PMID:19212411 PMID:33154451 PMID:8976642 PMID:19854891 MetaCyc:RIBOFLAVIN PMID:12927541 PMID:182198 CAS:83-88-5 PMID:24643482 Patent:US2807611 PMID:2369885 PMID:6475825 LINCS:LSM-4084 PMID:12083520 PMID:9808225 PDBeChem:RBF PMID:12354259 HMDB:HMDB0000244" + "D-Ribitol in which the hydroxy group at position 5 is substituted by a 7,8-dimethyl-2,4-dioxo-3,4-dihydrobenzo[g]pteridin-10(2H)-yl moiety. It is a nutritional factor found in milk, eggs, malted barley, liver, kidney, heart, and leafy vegetables, but the richest natural source is yeast. The free form occurs only in the retina of the eye, in whey, and in urine; its principal forms in tissues and cells are as flavin mononucleotide and flavin-adenine dinucleotide." "PMID:8604671 Wikipedia:Riboflavin PMID:3142982 Drug_Central:2834 Chemspider:431981 PMID:7883462 PMID:8678471 PMID:33886098 PMID:4019261 KEGG:D00050 PMID:16460756 PMID:8487103 PMID:19169240 KNApSAcK:C00001552 PMID:6546833 PMID:7101408 PMID:3592624 PMID:22770225 PMID:25468971 PMID:24816110 PMID:33304888 PMID:10566553 KEGG:C00255 PMID:3878498 PMID:2631092 Reaxys:97831 PMID:6650303 PMID:16273338 PMID:9874201 PMID:11606856 DrugBank:DB00140 Patent:US2876169 PMID:16658098 FooDB:FDB012160 PMID:25887755 PMID:14963913 PMID:34156642 PMID:18832377 PMID:33892358 PMID:29937405 PMID:11399071 PMID:9184778 PMID:25108762 PMID:23818044 PMID:19212411 PMID:33154451 PMID:8976642 PMID:19854891 MetaCyc:RIBOFLAVIN PMID:12927541 PMID:182198 CAS:83-88-5 PMID:24643482 Patent:US2807611 PMID:2369885 PMID:6475825 LINCS:LSM-4084 PMID:12083520 PMID:9808225 PDBeChem:RBF PMID:12354259 HMDB:HMDB0000244" "The amount of a bromodomain-containing protein 1 when measured in blood serum." "The amount of a osteopetrosis-associated transmembrane protein 1 when measured in blood serum." "OMIM:618096 ICD10:E28.3" @@ -33820,7 +33562,6 @@ "A form of strabismus with one or both eyes deviated outward." "UMLS:C0015310 SNOMEDCT_US:399054005 SNOMEDCT_US:399252000" - "A non-neoplastic or neoplastic (benign or malignant) disorder involving a salivary gland. [ NCI ]" "DOID:10854 ICD9:527.9 UMLS:C0036093 MeSH:D012466 MEDGEN:892384 ICD10:K11 ICD9:527.8 SCTID:10890000 NCIt:C26879 UMLS:C0149772 NCIT:C26879 MONDO:0001142 MESH:D012466" "The amount of a multiple coagulation factor deficiency protein 2 when measured in blood serum." "NCIt:C61330" @@ -33929,7 +33670,7 @@ "Quantification of the amount of 1-(1-enyl-palmitoyl)-2-arachidonoyl-GPE (P-16:0/20:4) in a sample." "PMID:35347128" "UMLS:C4024944" "A rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction." "MEDGEN:442565 GARD:20687 UMLS:C2750798 MESH:C567715 Orphanet:250972 OMIM:613180" - "An amino acid betaine that is L-proline zwitterion in which both of the hydrogens attached to the nitrogen are replaced by methyl groups." "Reaxys:3542403 PMID:25012968 CAS:471-87-4 KEGG:C10172 PMID:22770225 HMDB:HMDB0004827 PDBeChem:PBE DrugBank:DB04284 KNApSAcK:C00002074 Beilstein:3542403 PMID:24704554" + "An amino acid betaine that is L-proline zwitterion in which both of the hydrogens attached to the nitrogen are replaced by methyl groups." "Reaxys:3542403 PMID:25012968 CAS:471-87-4 KEGG:C10172 PMID:22770225 HMDB:HMDB0004827 PDBeChem:PBE DrugBank:DB04284 KNApSAcK:C00002074 PMID:24704554" "High-throughput Single-Cell Labeling in drop-based microfluidics followed by RNA-seq" "PMID:26000628" "ICD10:E72.8 OMIM:271980" "Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever." "Orphanet:642 OMIM:256800 NORD:1236 SCTID:62985007 DOID:0070146 PMID:8696348 UMLS:C0020074 PMID:14272277 NCIT:C118633 GARD:3006 MEDGEN:6915 icd11.foundation:1831234152 NANDO:2200854 NANDO:1200553" @@ -33972,7 +33713,6 @@ "An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it." "DOID:222 ICD9:380.0 ICD9:380.00 UMLS:C0155389 MEDGEN:509945 SCTID:34129005" "NCIt:C86789 MeSH:D018502 SNOMEDCT:12447002" "Graft-versus-host disease (GVHD) is a common complication following an allogeneic tissue transplant. It is commonly associated with stem cell or bone marrow transplant but the term also applies to other forms of tissue graft." - "Cancer or tumors of the URETHRA. Benign epithelial tumors of the urethra usually consist of squamous and transitional cells. Primary urethral carcinomas are rare and typically of squamous cells. Urethral carcinoma is the only urological malignancy that is more common in females than in males." "DOID:734 MedDRA:10062223 NCIt:C3428 UMLS:C0041971 MeSH:D014523 NCIT:C3428 MONDO:0021239 MEDGEN:12014 MedDRA:10046431" "Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics." "MEDGEN:347860 SCTID:719946008 UMLS:C1859356 OMIM:211960 GARD:5128 MESH:C536953 Orphanet:3292" "Orphanet:93579" "MEDGEN:863499 UMLS:C4015062 DOID:0111498 OMIM:616045" @@ -33980,7 +33720,6 @@ "A neoplasm (disease) that involves the sublingual gland." "UMLS:C0038554 MeSH:D013362 MEDGEN:21371 MESH:D013362 SCTID:126790004 NCIT:C3392 MONDO:0021242" - "A derived unit which represents a standard measurement of how much of a given substance there is mixed with another substance." "MO:86 MO:61" "A common lymphoid progenitor that is Kit-low, FLT3-positive, IL7ralpha-positive, and SCA1-low." "Damage inflicted to the neck." "MedDRA:10062211 ICD10:S13" "quantification of the amount of angiopoietin-1 receptor, soluble in a sample" @@ -34086,13 +33825,13 @@ "Bilateral lack of development of the lungs." "Fyler:4206 UMLS:C4021610" "Human Natural killer cell lymphoblastic leukemia/lymphoma cell line" "RRID:CVCL_0466" - "An unresponsive case of celiac disease where the villi of a patient with celiac disease do not recover even after the patient stays on a gluten-free diet. For a diagnosis of refractory celica disease, all other possible causes of the intestinal damage must be eliminated. The condition affects a small percentage of people with celiac disease." "Orphanet:398063 UMLS:C4749333 MONDO:0018353 ICD10CM:K90.0 GARD:21640 NORD:1653 MEDGEN:1670595" + "An unresponsive case of celiac disease where the villi of a patient with celiac disease do not recover even after the patient stays on a gluten-free diet. For a diagnosis of refractory celica disease, all other possible causes of the intestinal damage must be eliminated. The condition affects a small percentage of people with celiac disease." "UMLS:C4749333 MONDO:0018353 ICD10CM:K90.0 GARD:21640 NORD:1653 MEDGEN:1670595 Orphanet:398063" "The amount of a serpin B5 when measured in blood." "PMID:37794183" "Quantification of the amount of 2,6-Diaminooimelic acid in a sample." "PMID:33634981" "Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals." "Orphanet:289483 MEDGEN:477091 GARD:17326 OMIM:300858 DOID:0060803 UMLS:C3275460" "A double-positive, alpha-beta thymocyte that is small and not proliferating." - "The formation of glucose from noncarbohydrate precursors, such as pyruvate, amino acids and glycerol." "Wikipedia:Gluconeogenesis MetaCyc:GLUCONEO-PWY" + "The formation of glucose from noncarbohydrate precursors, such as pyruvate, amino acids and glycerol." "Wikipedia:Gluconeogenesis" "Human squamous cell carcinoma cell line from the tongue of a 25-year-old male patient. (ATCC catalog number CRL-1629)" "RRID:CVCL_1685 BTO:0005855 CLO:0008969" "UMLS:C0043208 MeSH:D015223 MedDRA:10053687 OMIM:278000 ICD10:E75.5" @@ -34245,13 +33984,11 @@ "The amount of a contactin-associated protein-like 2 when measured in blood serum." "The amount of a U6 snRNA phosphodiesterase when measured in blood serum." - "A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys." "SCTID:397428000 SNOMEDCT:397428000 Orphanet:1679 ICD9:032 MESH:D004165 MedDRA:10013023 MONDO:0005504 NCIt:C34541 MeSH:D004165 MEDGEN:4334 UMLS:C0012546 ICD10CM:A36.3 DOID:11405 ICD9:032.9 MedDRA:10013025 GARD:1875 icd11.foundation:508032285 NCIT:C34541 ICD10CM:A36" "Quantification of the amount of vesicular integral-membrane protein VIP36 measurement in a sample." "PMID:36168886" "An extremely rare, usually solitary, well-differentiated neuroendocrine tumor (carcinoid tumor) arising from the liver. There is mild nuclear atypia and low mitotic activity present. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation. The vast majority of carcinoid tumors found in the liver represent metastases from other anatomic sites." "NCIt:C5783" "a collection of sets of haploid cells in which a different gene has been deleted in each set" "A tubulinopathy syndrome associated with malformations of cortical development, axon guidance defects, white matter abnormalities, and/or congenital fibrosis of the extraocular muscles (CFEOM), due to de novo or dominantly inherited variants with high penetrance. Individuals may present with variable combinations of malformations of cortical development, dysplasia of the basal ganglia, brainstem, and/or cerebellum, CFEOM, additional cranial nerve involvement, Kallmann syndrome, cyclic vomiting, peripheral neuropathy, and/or contractures. Developmental delays, intellectual disability, ocular motor apraxia, and mirror movements are also frequent features." "Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale." "SNOMEDCT_US:267036007 SNOMEDCT_US:230145002 UMLS:C0013404" - "A general term for the complete or partial loss of the ability to hear from one or both ears." "ICD10:H91 MONDO:0005365 SCTID:15188001 ICD10CM:H90 ICD9:389.9 MeSH:D034381 UMLS:C1384666 MESH:D034381 NCIt:C35731 ICD9:389.8 SNOMEDCT:15188001 NCIT:C35731 MedDRA:10019246 MEDGEN:235586 ICD9:389" "ZFA:0001368" "Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the GNPAT gene." "The amount of a beta-defensin 115 when measured in blood serum." @@ -34275,7 +34012,7 @@ "Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported." "DOID:0111051 MEDGEN:863021 Orphanet:420566 UMLS:C4014584 GARD:17695 OMIM:615888" "Quantification of transmembrane protein 40 in a sample." "PMID:29875488" - "A racemate comprising equimolar amounts of dexverapamil and (S)-verapamil. An L-type calcium channel blocker of the phenylalkylamine class, it is used (particularly as the hydrochloride salt) in the treatment of hypertension, angina pectoris and cardiac arrhythmia, and as a preventive medication for migraine." "PMID:25968157 PMID:26567612 PMID:25297337 PMID:11142488 PMID:14681337 KEGG COMPOUND:C07188 \"KEGG COMPOUND\" KEGG:C07188 PMID:11389609 PMID:26504804 KEGG:D02356 SNOMEDCT:47898004 Reaxys:2825000 Beilstein:2825000 SNOMEDCT:372754009 PMID:24577794 PMID:12454681 MeSH:D014700 CAS:52-53-9 PMID:17724247 PMID:11975770 HMDB:HMDB0001850 DrugBank:DB00661 NCIt:C928 PMID:17525564 PMID:25650380 DrugBank:DB00661 \"DrugBank\" Beilstein:2825000 \"Beilstein Registry Number\" PMID:18337499 Wikipedia:Verapamil PMID:19125880 PMID:11454724 PMID:16545584 ChemIDplus:52-53-9 \"CAS Registry Number\" PMID:8861548 PMID:26553277 PMID:26046259 PMID:24532601 KEGG DRUG:D02356 \"KEGG DRUG\" PMID:18093581 KEGG COMPOUND:52-53-9 \"CAS Registry Number\" PMID:25331694" + "A racemate comprising equimolar amounts of dexverapamil and (S)-verapamil. An L-type calcium channel blocker of the phenylalkylamine class, it is used (particularly as the hydrochloride salt) in the treatment of hypertension, angina pectoris and cardiac arrhythmia, and as a preventive medication for migraine." "PMID:25968157 PMID:26567612 PMID:25297337 PMID:11142488 PMID:14681337 KEGG COMPOUND:C07188 \"KEGG COMPOUND\" KEGG:C07188 PMID:11389609 PMID:26504804 KEGG:D02356 SNOMEDCT:47898004 Reaxys:2825000 SNOMEDCT:372754009 PMID:24577794 PMID:12454681 MeSH:D014700 CAS:52-53-9 PMID:17724247 PMID:11975770 HMDB:HMDB0001850 DrugBank:DB00661 NCIt:C928 PMID:17525564 PMID:25650380 DrugBank:DB00661 \"DrugBank\" Beilstein:2825000 \"Beilstein Registry Number\" PMID:18337499 Wikipedia:Verapamil PMID:19125880 PMID:11454724 PMID:16545584 ChemIDplus:52-53-9 \"CAS Registry Number\" PMID:8861548 PMID:26553277 PMID:26046259 PMID:24532601 KEGG DRUG:D02356 \"KEGG DRUG\" PMID:18093581 KEGG COMPOUND:52-53-9 \"CAS Registry Number\" PMID:25331694" "Anlage in statu nascendi of the hindgut in a stage 5 embryo that will give rise to the hindgut anlage." "FBbt:00005424" "LINCS:LSM-36362 CAS:3690-10-6 DrugBank:DB03068 Beilstein:751056" @@ -34283,7 +34020,6 @@ "A carcinoma arising from the epithelium of the renal parenchyma or the renal pelvis. The majority are renal cell carcinomas. Kidney carcinomas usually affect middle aged and elderly adults. Hematuria, abdominal pain, and a palpable mass are common symptoms." "UMLS:C1378703 MedDRA:10007404 OMIM:144700 MONDO:0005206 DOID:4451 MedDRA:10023406 NCIT:C9384 MEDGEN:235133 EFO:0002890 icd11.foundation:1075394530" "Quantification of the amount of lyxonate in a sample." "PMID:35347128" "Quantification of coiled-coil domain-containing protein 126 in a sample." "PMID:29875488" - "A serious complication of childhood systemic inflammatory disorders that is thought to be caused by excessive activation and proliferation of T-LYMPHOCYTES and MACROPHAGES. It is seen predominantly in children with systemic onset JUVENILE IDIOPATHIC ARTHRITIS." "SCTID:430478003 Orphanet:158061 SNOMEDCT:430478003 MEDGEN:242753 ORDO:Orphanet_158061 MedDRA:10053867 NCIt:C114471 NCIT:C114471 MONDO:0015545 MeSH:D055501 GARD:12124 UMLS:C1096155 MESH:D055501" "human ovarian carcinoma cell line established from a female" "BTO:0002563 RRID:CVCL_3935" "The determination of the amount of mast/stem cell growth factor receptor kit in a sample" "PMID:28240269" "quantification of the amount of leucine carboxyl methyltransferase 1 in a sample" @@ -34335,7 +34071,7 @@ "quantification of the amount of cathepsin Z in a sample" "Quantification of the volume of the lung." "PMID:34128465" "The amount of a adhesion G-protein coupled receptor G2 when measured in blood serum." - "An optically active form of glutamine having L-configuration." "KEGG:D00015 HMDB:HMDB0000641 PDBeChem:GLN Drug_Central:1311 ECMDB:ECMDB00641 PMID:29438107 PMID:22770225 Gmelin:3509 MetaCyc:GLN Beilstein:1723797 KNApSAcK:C00001359 PMID:22453904 Wikipedia:Glutamine PMID:22451274 PMID:22206385 PMID:11139387 PMID:15204730 Reaxys:1723797 PMID:22575040 CAS:56-85-9 KEGG:C00064 DrugBank:DB00130 YMDB:YMDB00002 LINCS:LSM-4741 PMID:22055478" + "An optically active form of glutamine having L-configuration." "KEGG:D00015 HMDB:HMDB0000641 PDBeChem:GLN Drug_Central:1311 ECMDB:ECMDB00641 PMID:29438107 PMID:22770225 Gmelin:3509 MetaCyc:GLN KNApSAcK:C00001359 PMID:22453904 PMID:22451274 Wikipedia:Glutamine PMID:22206385 PMID:11139387 PMID:15204730 Reaxys:1723797 PMID:22575040 CAS:56-85-9 KEGG:C00064 DrugBank:DB00130 YMDB:YMDB00002 LINCS:LSM-4741 PMID:22055478" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LRTOMT gene." "DOID:0110515 GARD:22627 MEDGEN:409872 MESH:C566951 OMIM:611451 UMLS:C1969621" "An abnormality of the distribution of hair growth." "UMLS:C4023721" "This anteriormost portion of the intestine has the most digestive enzymes and the greatest epithelial surface area. Wallace et al, 2005." "ZFA:0001076" @@ -34346,7 +34082,6 @@ "The third large region of the insect body, which originally comprised twelve segments, each segment is usually formed by a dorsal tergite and a ventral sternite and carries on both sides a spiracle, sometimes, both the dorsal and the ventral plates are further subdivided to give rise to latero-tergites and latero-sternites. In the context of Drosophila refers to the most posterior of the three main tagmata or divisions of the body plan, after the head and the thorax." "MAT:0000298 TGMA:0000524 FMA:9577 SAEL:1 BTO:0000020 EV:0100011 FBbt:00000020" "A soft and painless polypoid mass that arises from the mucosa in the nasal cavity. It is usually the result of an inflammatory process. It may recur following surgical resection." "UMLS:C0027430 MedDRA:10036138 ICD10:J33 ICD9:471.9 NCIT:C3256 MedDRA:10028754 MEDGEN:6524 NCIt:C3256 MONDO:0006314 ICD9:471.0 SCTID:52756005 MedDRA:10028756 MESH:D009298" "Quantification of collagen alpha-1(XX) chain in a sample." "PMID:29875488" - "Tumors or cancer of the EYE." "ICD10:C69 NCIT:C3030 ICD10CM:C69-C72 MeSH:D005134 NCIt:C3030 UMLS:C0015414 MONDO:0021220 MEDGEN:5095 ONCOTREE:EYE" "RYR-1-related diseases are conditions caused by changes (mutations) in the RYR-1 gene. RYR-1 mutations are typically associated with core myopathies and are the most common overall cause of congenital myopathy. [ https://rarediseases.org/rare-diseases/ryr-1-related-diseases/ ]" "Orphanet:93593" @@ -34366,7 +34101,6 @@ "ZFA:0000841" "X-linked intellectual disability and epilepsy associated with variants in the CLCN4 gene." "The amount of a n-(15z-tetracosenoyl)-1-deoxysphing-4-enine when measured in blood serum." - "A cervix disease that is characterized by the beginning of dilation and effacement of a pregnant woman's cervix before her pregnancy has reached term." "MedDRA:10008272 DOID:9681 MedDRA:10008271 MedDRA:10008274 UMLS:C0007871 MedDRA:10008270 ICD9:654.50 MeSH:D002581 MedDRA:10008267 MEDGEN:2972 ICD9:622.5 SCTID:17382005 MONDO:0005698 MedDRA:10008273 MESH:D002581" "A specialized, enlarged, connective tissue cell of the decidua with enlarged nucleus, dense membrane‐bound secretory granules and cytoplasmic accumulation of glycogen and lipid droplets. These cells develop by the transformation of endometrial stromal cells during decidualization." "BTO:0002770 BTO:0005756 NCIT:C32429" "a rare genodermatosis with an autosomal dominant mode of inheritance. Acrokeratosis verruciformis is a disorder of keratinization characterized by multiple flat-topped, skin-colored keratotic lesions resembling plane warts typically observed on the dorsum of the hands and feet." "SCTID:400085009 GARD:16707 NCIT:C27519 UMLS:C0265971 Orphanet:79151 OMIM:101900 MEDGEN:75589 MONDO:0007048 ICD9:757.39 DOID:0050606 MedDRA:10069445" "The amount of a DNA (cytosine-5)-methyltransferase 3-like when measured in blood serum." @@ -34387,7 +34121,6 @@ "A thickened portion of ectoderm which serves as the precursor to the lens. SOX2 and Pou2f1 are involved in its development[WP]." "EFO:0003494 Wikipedia:Lens_placode UMLS:C1517770 EMAPA:16672 NCIT:C34202 XAO:0000240 FMA:296767 EHDAA:2908 AAO:0011055 EHDAA2:0000982 ZFA:0000122 VHOG:0000166 TAO:0000122" "Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported." "DOID:0060817 MEDGEN:902184 GARD:17832 UMLS:C4225417 OMIM:300967 Orphanet:466791" "Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." "MeSH:D014897 NCIt:C118847 OMIM:253400 ICD10:G12.1 SNOMEDCT:54280009 DOID:12376" - "describes the procedure for dissection." "The amount of a Phosphatidylcholine (18:1_20:2) when measured in blood serum." @@ -34411,7 +34144,6 @@ "The determination of the amount of casein kinase II 2-alpha:2-beta heterotetramer in a sample" "PMID:28240269" "An autosomal recessive disorder characterized by a triad of DEXTROCARDIA; INFERTILITY; and SINUSITIS. The syndrome is caused by mutations of DYNEIN genes encoding motility proteins which are components of sperm tails, and CILIA in the respiratory and the reproductive tracts." "SNOMEDCT:42402006 NCIt:C84797 MeSH:D007619 DOID:50144" "A cyclic nonribosomal peptide of eleven amino acids; an immunosuppressant drug widely used in post-allogeneic organ transplant to reduce the activity of the patient's immune system, and therefore the risk of organ rejection. Also causes reversible inhibition of immunocompetent lymphocytes in the G0- and G1-phase of the cell cycle." "CiteXplore:11493684 PMID:15626898 CiteXplore:15541012 Wikipedia:Ciclosporin CiteXplore:18299432 PMID:11481617 KEGG COMPOUND:C05086 CiteXplore:16372476 ChemIDplus:59865-13-3 PMID:23620378 CiteXplore:18790203 CiteXplore:12929192 PMID:18931077 CiteXplore:17117422 CiteXplore:11442023 PMID:11315347 PMID:11080188 CiteXplore:1566062 PMID:11564166 PMID:15383526 CiteXplore:17192032 KEGG DRUG:D00184 CiteXplore:14638917 CiteXplore:17446460 CiteXplore:19282398 MetaCyc:CPD-20532 PMID:11870366 PMID:11238591 PMID:12929192 Patent:US4117118 LIPID_MAPS_instance:LMPK14000003 CiteXplore:11079273 CiteXplore:15030555 CiteXplore:16898534 PMID:15657176 PMID:18299432 CiteXplore:15210365 PMID:18583716 CiteXplore:18076075 CiteXplore:15962181 SNOMEDCT:387467008 PMID:18217899 Reaxys:3647785 PMID:17117422 PMID:15613074 HMDB:HMDB0250682 CiteXplore:18359899 Chemspider:4447449 CiteXplore:18217899 PMID:11676831 CiteXplore:11069928 KEGG COMPOUND:59865-13-3 SNOMEDCT:80906007 CiteXplore:11481617 CiteXplore:18597363 PMID:34561200 Drug_Central:760 PMID:11529914 CiteXplore:11058832 PMID:17603747 CiteXplore:18171316 DrugBank:DB00091 Beilstein:3647785 CiteXplore:14672695 CiteXplore:12603598 PMID:18191430 CiteXplore:17032751 CiteXplore:11370709 PMID:18790203 PMID:19589783 PMID:14521916 PMID:18171316 PMID:16724420 PMID:24134630 PMID:19282398 PMID:18076075 CiteXplore:14521916 PMID:17220244 CiteXplore:17229932 PMID:15711594 CiteXplore:11256490 LINCS:LSM-1703 PMID:14672695 CiteXplore:18191430 PMID:18818682 KNApSAcK:C00001517 KEGG:D00184 CiteXplore:11315347 CiteXplore:11080188 CiteXplore:19589783 CiteXplore:11870366 CiteXplore:17603747 PMID:15030555 CiteXplore:15383526 PMID:31144214 CiteXplore:17083576 PMID:16372476 CiteXplore:18583716 CiteXplore:11676831 CiteXplore:14621732 PMID:16898534 PMID:12021257 PMID:17083576 PMID:15811524 PMID:17265451 MeSH:D016572 PMID:18975184 CiteXplore:16724420 CiteXplore:14682659 CiteXplore:12761440 CAS:59865-13-3 PMID:17229932 NCIt:C406 PMID:12761440 CiteXplore:18931077 PMID:1566062 CiteXplore:15711594 CiteXplore:12050171 PMID:18359899 CiteXplore:18259730 PMID:11442023 PMID:12950728 CiteXplore:11564166 CiteXplore:11238591 PMID:17446460 CiteXplore:11406057 CiteXplore:17220244 PMID:17192032 CiteXplore:16404634 CiteXplore:15626898 PMID:15175101 PMID:11406057 CiteXplore:11529914 PMID:15306697 PMID:11426833 CiteXplore:11278005 CiteXplore:15306697 CiteXplore:15811524 PMID:11493684 CiteXplore:16801218 PMID:11278005 PMID:14682659 PMID:12603598 PMID:11069928 CiteXplore:14743390 PMID:15210365 CiteXplore:17265451 PMID:16801218 PMID:11557554 PMID:18597363 PMID:11079273 CiteXplore:12950728 PMID:34561814 PMID:11370709 PMID:18259730 CiteXplore:15175101 CiteXplore:18975184 PMID:16404634 PMID:11058832 PMID:14638917 CiteXplore:12021257 PMID:14621732 CiteXplore:15613074 KEGG:C05086 CiteXplore:11426833 PMID:21752960 VSDB:1765 CiteXplore:18818682 CiteXplore:15657176 PMID:15541012 PMID:15962181 CiteXplore:11557554 PMID:17032751 PMID:11256490 PMID:12050171 PMID:14743390" - "Gastrointestinal symptoms resulting from an absent or nonfunctioning pylorus." "NCIT:C2994 MONDO:0001979 MeSH:D004377 NCIt:C2994 MedDRA:10013810 icd11.foundation:237191235 UMLS:C0013288 MESH:D004377 DOID:14495 MEDGEN:8501" "Any blade with a few short branches arising apically or subapically." "TGMA:000136 BTO:0001368 EV:0100010 SAEL:106 FBbt:00000015 MAT:0000295 FMA:9576" "The chemical reactions and pathways involving pantothenate, the anion of pantothenic acid, the amide of beta-alanine and pantoic acid. It is a B complex vitamin that is a constituent of coenzyme A and is distributed ubiquitously in foods." "Reactome:REACT_82950 Reactome:REACT_28656 Reactome:REACT_86839 Reactome:REACT_108156 Reactome:REACT_83248 Reactome:REACT_105528 Reactome:REACT_92560 Reactome:REACT_30617 Reactome:REACT_104492 Reactome:REACT_103358 Reactome:REACT_110826 Reactome:REACT_106249 Reactome:REACT_108431 Reactome:REACT_89166 Reactome:REACT_87697 Reactome:REACT_86752 Reactome:REACT_83019 Reactome:REACT_110973 Reactome:REACT_93339 Reactome:REACT_11172 Reactome:REACT_110397" "Is the quantification of Insulin-like growth factor 1 (IGF-1), also called somatomedin C. IGF-1 is a hormone similar in molecular structure to insulin. It plays an important role in childhood growth and continues to have anabolic effects in adults. Levels of IGF-1 are known to increase in some cancers." @@ -34463,10 +34195,9 @@ "Quantification of the amount of X-24728 in a sample." "PMID:35347128" "A central nervous system disease that consists of gait impairment, unclear (“scanning”) speech, visual blurring due to nystagmus, hand incoordination, and tremor with movement." - "Human T cell leukemia cell line, expresses relatively high levels of the larger PTPRC/CD45 isoforms relative to isoform CD45R0" "PMID:10594010 RRID:CVCL_XF44" + "Human T cell leukemia cell line, expresses relatively high levels of the larger PTPRC/CD45 isoforms relative to isoform CD45R0" "RRID:CVCL_XF44 PMID:10594010" "CS57549 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158573&type=germplasm" - "A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2099-2101; Curr Opin Oncol 1998 Jan;10(1):43-51)" "SNOMEDCT:87364003 MedDRA:10029260 NANDO:2200040 Orphanet:635 ONCOTREE:NBL NCIT:C3270 ICDO:9500/3 NCIt:C3270 OMIM:613014 MONDO:0005072 OMIM:613013 NIFSTD:birnlex_12631 MESH:D009447 UMLS:C0027819 MeSH:D009447 MEDGEN:18012 OMIM:256700 SCTID:432328008 GARD:7185 DOID:769 SNOMEDCT:432328008" "The determination of the number of eosinophilic myelocytes in a blood sample. [ NCI ]" "UMLS:C2827510 NCIt:C84821" "An autosomal dominant inherited syndrome caused by mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer." "UMLS:C0677776 MEDGEN:151793 NORD:1936 Orphanet:145 ICD10CM:C50 SCTID:718220008 MESH:D061325 DOID:5683 NCIT:C8493 GARD:15010 icd11.foundation:1258896144" "Measurement of the diameter of the mitral valve annulus." @@ -34494,13 +34225,12 @@ "UMLS:C0878676 OMIM:261640 MeSH:C535325 ICD10:E70.1" "A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has material basis in mutation in the GRN gene on chromosome 17q21.31." "MEDGEN:375285 UMLS:C1843792 OMIM:607485 DOID:0060672" "Quantification of cholesterol esters contained in or bound to medium LDL." - "An oxopurine that is guanine substituted by a (2-hydroxyethoxy)methyl substituent at position 9. Used in the treatment of viral infections." "PMID:11687127 Reaxys:1219402 HMDB:HMDB0014925 LINCS:LSM-5459 Patent:US4199574 Beilstein:1219402 PMID:11994034 Drug_Central:85 SNOMEDCT:372729009 KEGG:C06810 CAS:59277-89-3 PMID:24346595 MeSH:D000212 KEGG:D00222 Wikipedia:Acyclovir PMID:8308511 PMID:28166217 PDBeChem:AC2 SNOMEDCT:41193000 Patent:DE2539963 NCIt:C205 PMID:26024233 DrugBank:DB00787" + "An oxopurine that is guanine substituted by a (2-hydroxyethoxy)methyl substituent at position 9. Used in the treatment of viral infections." "PMID:11687127 Reaxys:1219402 HMDB:HMDB0014925 LINCS:LSM-5459 Patent:US4199574 PMID:11994034 Drug_Central:85 SNOMEDCT:372729009 KEGG:C06810 CAS:59277-89-3 PMID:24346595 MeSH:D000212 KEGG:D00222 Wikipedia:Acyclovir PMID:8308511 PMID:28166217 PDBeChem:AC2 SNOMEDCT:41193000 Patent:DE2539963 NCIt:C205 PMID:26024233 DrugBank:DB00787" "3H-2,1-Benzoxathiole 1,1-dioxide in which both of the hydrogens at position 3 have been substituted by 4-hydroxyphenyl groups. A pH indicator changing colour from yellow below pH 6.8 to bright pink above pH 8.2, it is commonly used as an indicator in cell cultures and in home swimming pool test kits. It is also used in the (now infrequently performed) phenolsulfonphthalein (PSP) test for estimation of overall blood flow through the kidney." "CAS:143-74-8 KEGG:D01200 KEGG:C12600 Beilstein:326470 Drug_Central:3439" "symptoms of psychosis and altered mental status experienced as a result of drug consumption or as a result of a mental or behavioural disorder such as schizophrenia or bipolar disorder" "ICD10:F23" "Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells." "DOID:627 MedDRA:10069566 MEDGEN:88328 MESH:D016511 UMLS:C0085110 icd11.foundation:963193284 NORD:1706 GARD:7628 NCIT:C3472 HP:0004430 SCTID:31323000 Orphanet:183660" - "Cryptorchidism (derived from the Greek κρυπτός, kryptos, meaning hidden and ὄρχις, orchis, meaning testicle) is the absence of one or both testes from the scrotum. It is the most common birth defect regarding male genitalia. In unique cases, cryptorchidism can develop later in life, often as late as young adulthood. About 3% of full-term and 30% of premature infant boys are born with at least one undescended testis. However, about 80% of cryptorchid testes descend by the first year of life (the majority within three months), making the true incidence of cryptorchidism around 1% overall. Cryptorchidism is distinct from monorchism the condition of having only one testicle." "DOID:11383 MedDRA:10056600 UMLS:C0010417 NCIt:C12326 MESH:D003456 ICD9:752.5 icd11.foundation:1134950387 NCIT:C12326 ICD9:752.51 OMIM:219050 SNOMEDCT:127907005 HP:0000028 SCTID:204878001 MEDGEN:8192 MONDO:0009047 MeSH:D003456" "Quantification of the amount of phenol glucuronide in a sample." "PMID:35347128" "Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia and prominent sensory neuropathy." "MEDGEN:373347 UMLS:C1837518 OMIM:608703 DOID:0050974 Orphanet:101111 icd11.foundation:8347192 GARD:9996 MESH:C537202 SCTID:718770005" "The amount of a cleavage stimulation factor subunit 1 when measured in blood serum." @@ -34656,14 +34386,13 @@ "A lipoprotein concentration assay that measures the concentration of very-low-density lipoprotein in a specimen." "An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual." "UMLS:C5681733 GARD:10711 Orphanet:98497 MEDGEN:1825937" - "A Trichomonas vaginalis trichomoniasis that involves inflammation of the vagina caused by Trichomonas vaginalis. The symptoms include foul vaginal odor, burning during urination, vaginal discharge and irritation of the genital area." "ICD9:131.00 SCTID:35089004 DOID:0050269 MeSH:D014247 ICD9:131.09 MONDO:0005993 DOID:11943 MESH:D014247 NCIT:C35083 ICD10CM:A59.0" "Quantification of the amount of choline phosphate in a sample." "PMID:35347128" "Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency." "UMLS:C5244016 OMIMPS:300352 MEDGEN:1826001 NANDO:1201032 NANDO:2100226 DOID:0050798 Orphanet:79172 GARD:18952 NANDO:2200842" - "A macrolide antibiotic useful for the treatment of bacterial infections." "Beilstein:5387583 Wikipedia:Azithromycin MeSH:D017963 PDBeChem:ZIT Reaxys:8820027 HMDB:HMDB0014352 LINCS:LSM-5821 Patent:BE892357 KEGG:D07486 DrugBank:DB00207 Patent:US4517359 NCIt:C28844 SNOMEDCT:387531004 Reaxys:5387583 SNOMEDCT:96034006 PMID:18253999 Drug_Central:276 CAS:83905-01-5 PMID:15143799 KEGG:C06838" + "A macrolide antibiotic useful for the treatment of bacterial infections." "Wikipedia:Azithromycin MeSH:D017963 PDBeChem:ZIT Reaxys:8820027 HMDB:HMDB0014352 LINCS:LSM-5821 Patent:BE892357 KEGG:D07486 DrugBank:DB00207 Patent:US4517359 NCIt:C28844 SNOMEDCT:387531004 Reaxys:5387583 SNOMEDCT:96034006 PMID:18253999 Drug_Central:276 CAS:83905-01-5 PMID:15143799 KEGG:C06838" "KEGG:C10454 CAS:93-15-2 KNApSAcK:C00002741 BPDB:2504" "The amount of a papilin when measured in blood serum." - "A phenylpropanoid formally derived from guaiacol with an allyl chain substituted para to the hydroxy group. It is a major component of clove essential oil, and exhibits antibacterial, analgesic and antioxidant properties. It has been widely used in dentistry to treat toothache and pulpitis." "PMID:32737935 PMID:29079364 PMID:23666640 PMID:23261812 PMID:23852671 PMID:23768604 PMID:33916044 PMID:15574415 PMID:23325490 PMID:33291666 PMID:23264268 PMID:23594212 PMID:23791894 PMID:23422489 PMID:14745850 PMID:22075131 KEGG:C10453 PDBeChem:EOL PMID:23313798 PMID:23677922 LINCS:LSM-2720 PMID:18218839 PMID:28044068 CAS:97-53-0 FooDB:FDB012171 PMID:2329164 PMID:23768603 PMID:23837051 Chemspider:13876103 PMID:9084914 Wikipedia:Eugenol Reaxys:1366759 PMID:22923067 BPDB:2008 Drug_Central:4648 PMID:23444040 PMID:8596779 PMID:20809147 KNApSAcK:C00000619 HMDB:HMDB0005809 MetaCyc:CPD-6481 PMID:23422484 PMID:11806158 PMID:23707945 PMID:23841789 KEGG:D04117 PMID:11033063 Beilstein:1366759 PMID:23181601" + "A phenylpropanoid formally derived from guaiacol with an allyl chain substituted para to the hydroxy group. It is a major component of clove essential oil, and exhibits antibacterial, analgesic and antioxidant properties. It has been widely used in dentistry to treat toothache and pulpitis." "PMID:32737935 PMID:29079364 PMID:23666640 PMID:23261812 PMID:23852671 PMID:23768604 PMID:33916044 PMID:15574415 PMID:23325490 PMID:33291666 PMID:23264268 PMID:23594212 PMID:23791894 PMID:23422489 PMID:14745850 PMID:22075131 KEGG:C10453 PDBeChem:EOL PMID:23313798 PMID:23677922 LINCS:LSM-2720 PMID:18218839 PMID:28044068 CAS:97-53-0 FooDB:FDB012171 PMID:2329164 PMID:23768603 PMID:23837051 Chemspider:13876103 PMID:9084914 Wikipedia:Eugenol Reaxys:1366759 PMID:22923067 BPDB:2008 Drug_Central:4648 PMID:23444040 PMID:8596779 PMID:20809147 KNApSAcK:C00000619 HMDB:HMDB0005809 MetaCyc:CPD-6481 PMID:23422484 PMID:11806158 PMID:23707945 PMID:23841789 KEGG:D04117 PMID:11033063 PMID:23181601" "UMLS:C5567651 GARD:17857 Orphanet:477787 OMIM:618372 MEDGEN:1799074" "Quantification of phosphatidylcholine acyl-alkyl C36:2 measurement in a sample." "PMID:26068415" "A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4, CD5 ,CD8 alpha chain, CD11b, CD14, CD19, CD20, CD56, ly6G, ter119." "ZFA:0009014 NCIt:C12551 CALOHA:TS-0448 VHOG:0001485 SNOMEDCT:418318001 BTO:0000725 MESH:D006412 FMA:86475" @@ -34730,7 +34459,7 @@ "ZFA:0001213" "ICD10:Q87.8 UMLS:C3489725 OMIM:617397 OMIM:251290 UMLS:C2931662" - "A phthalate ester that is the diester obtained by the formal condensation of the carboxy groups of phthalic acid with two molecules of butan-1-ol. Although used extensively as a plasticiser, it is a ubiquitous environmental contaminant that poses a risk to humans." "Wikipedia:Dibutyl_phthalate PMID:28753974 PMID:26730679 CAS:84-74-2 PMID:28580302 PMID:24616073 Reaxys:1914064 HMDB:HMDB0033244 PMID:24213843 PMID:19840837 PMID:28363850 Beilstein:1914064 PMID:28822891 PMID:27655612 PMID:28566680 PMID:28823096 PMID:28486587 PPDB:2924 Gmelin:262569 PMID:16232742 Drug_Central:4414 PMID:24468924 PMID:11133400 PMID:28102498 KEGG:C14214" + "A phthalate ester that is the diester obtained by the formal condensation of the carboxy groups of phthalic acid with two molecules of butan-1-ol. Although used extensively as a plasticiser, it is a ubiquitous environmental contaminant that poses a risk to humans." "Wikipedia:Dibutyl_phthalate PMID:28753974 PMID:26730679 CAS:84-74-2 PMID:28580302 PMID:24616073 Reaxys:1914064 HMDB:HMDB0033244 PMID:24213843 PMID:19840837 PMID:28363850 PMID:28822891 PMID:27655612 PMID:28566680 PMID:28823096 PMID:28486587 PPDB:2924 Gmelin:262569 PMID:16232742 Drug_Central:4414 PMID:24468924 PMID:11133400 PMID:28102498 KEGG:C14214" "This syndrome is characterized by progressive ataxia beginning during childhood, deafness and intellectual deficit." "Orphanet:1188 UMLS:C0796045 SCTID:720517001 MESH:C535295 OMIM:208850 GARD:4644 MEDGEN:208659 icd11.foundation:2133046984" "MEDGEN:419129 Orphanet:2253 UMLS:C2931644 GARD:406 MESH:C537858" "A matured ovule containing an embryo and food supply and covered by a seed coat." "NCIt:C73913 PO:0009010 BTO:0001226 NCIt:C70596 ZEA:0015178 MAT:0000008 NCIt:C54575 SNOMEDCT:264337003" @@ -34740,7 +34469,6 @@ "The amount of a EEF1A lysine methyltransferase 1 when measured in blood serum." "A cancer that involves the cerebellum." "NCIT:C3569 MEDGEN:57797 ICD9:191.6 UMLS:C0153640 SCTID:449420002" - "A viral infectious disease that results_in infection located_in skin and located_in mucous membrane of cattle, has_material_basis_in Lumpy skin disease virus, which results_in_formation_of nodules on the skin particularly on the head, neck, udder, genitalia, perineum and legs, has_symptom fever, and has_symptom lymphadenopathy." "DOID:3293 MeSH:D008166 MEDGEN:9815 UMLS:C0024106 MESH:D008166 MONDO:0005830" "A hematoma is a collection of blood from a vascular structure into an extravascular space." "PMID:30137835 MeSH:D006406 SNOMEDCT:385494008 MedDRA:10019428 NCIt:C50579" "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus, which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center." "MedDRA:10027807 MONDO:0005855 icd11.foundation:82201615 DOID:8867 SCTID:40070004 MeSH:D008976 ICD9:078.0 MEDGEN:10081 UMLS:C0026393 MESH:D008976 ICD10CM:B08.1" "ZFA:0001214" @@ -34795,7 +34523,6 @@ "SNOMEDCT:81454004" - "Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." "MEDGEN:892790 ICD9:569.49 MESH:D005767 ICD9:570-579.99 ICD10CM:K00-K95 NCIT:C2990 ICD9:569 UMLS:C4023588 DOID:5295 ICD9:575 ICD9:V47.3 ICD9:520-579.99 ICD10:K91 MeSH:D005767 DOID:77 SCTID:53619000 ICD9:569.4 ICD9:564 MeSH:D007410 NANDO:1100013 MONDO:0004335 ICD9:560-569.99 ICD10:K31 SNOMEDCT:53619000 ICD10:K92 ICD9:564.4 MeSH:D004066" "Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported." "MESH:C535423 Orphanet:99949 UMLS:C1866636 icd11.foundation:382219984 SCTID:715797002 OMIM:601596 MEDGEN:356581 GARD:9201 DOID:0110183 NCIT:C129864" "OBSOLETE. Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosynostosis characterized by premature fusion of one coronal suture leading to skull deformity and facial asymmetry." "Orphanet:35098" "The amount of a actin filament-associated protein 1-like 1 when measured in blood serum." @@ -34882,7 +34609,7 @@ "A neuroendocrine neoplasm that arises from the lung. It is characterized by the presence of uniform polygonal cells with small or moderate amount of cytoplasm and inconspicuous nucleoli. The cells are usually arranged in organoid and trabecular patterns. It is classified as typical or atypical carcinoid tumor based on the number of mitotic figures and the absence or presence of necrosis. Atypical carcinoid tumors have a worse prognosis." "UMLS:C0280089 MONDO:0006041 MEDGEN:79070 SCTID:254627002 NCIT:C4038 ONCOTREE:LUCA EFO:1000037" "The amount of a ER degradation-enhancing alpha-mannosidase-like protein 2 when measured in blood serum." "OMIM:616540 MeSH:D020191 OMIM:616187 UMLS:C0751778 OMIM:616230" - "The parent compound of the citrulline class consisting of ornithine having a carbamoyl group at the N(5)-position." "CAS:627-77-0 PMID:18989563 PMID:16082501 PMID:1378088 Reaxys:1725417 PMID:21129371 PMID:17005970 Beilstein:2328251 PMID:17558653 PMID:11113071 PMID:18437289 PMID:16708633 Beilstein:1725417 PMID:17513438 PMID:11696417 Wikipedia:Citrulline PMID:18440672 PMID:17693747 PMID:21482070 PMID:19144577 PMID:11094453" + "The parent compound of the citrulline class consisting of ornithine having a carbamoyl group at the N(5)-position." "CAS:627-77-0 PMID:18989563 PMID:16082501 PMID:1378088 Reaxys:1725417 PMID:21129371 PMID:17005970 Beilstein:2328251 PMID:17558653 PMID:11113071 PMID:18437289 PMID:16708633 PMID:17513438 PMID:11696417 Wikipedia:Citrulline PMID:18440672 PMID:17693747 PMID:21482070 PMID:19144577 PMID:11094453" "Quantification of the amount of X-21470 in a sample." "PMID:35347128" "Floor plate that is part of the rhombomere 4." "ZFA:0000893" "The presence of an increased amount of blood in a body part or an organ leading to congestion or engorgement of blood vessels. Hyperemia can be due to increase of blood flow into the area (active or arterial), or due to obstruction of outflow of blood from the area (passive or venous)." "MeSH:D006940 SNOMEDCT:30098003 MedDRA:10020619 NCIt:C50588 ICD9:362.37" @@ -34974,7 +34701,6 @@ "The determination of the amount of erucic acid present in a sample." - "Pemphigus is a group of chronic autoimmune skin diseases characterised by blisters formation on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, of which paraneoplastic pemphigus is extremely rare. [ Orphanet:63455 ]" "ICD10CM:L10 MONDO:0006594 ICD10:L10 UMLS:C0030807 Wikipedia:Pemphigus NANDO:1200228 MedDRA:10034280 NCIT:C34909 NCIt:C34909 icd11.foundation:191659986 MEDGEN:45369 ICD9:694.4 GARD:7352 MESH:D010392 MeSH:D010392 DOID:9182 SCTID:65172003" "The amount of a zona pellucida-binding protein 1 when measured in blood serum." "Quantification of endoplasmic reticulum aminopeptidase 2 in a sample." "PMID:29875488" "A tumor consisting of displaced ectodermal structures along the lines of embryonic fusion, the wall being formed of epithelium-lined connective tissue, including skin appendages, and containing keratin, sebum, and hair. (Stedman, 25th ed)" "MedDRA:10012522 NCIt:C9011 MeSH:D003884 SNOMEDCT:72277008 DOID:2658" @@ -35019,7 +34745,7 @@ "quantification of the progression of lesions in white matter of the brain using magnetic resonance imaging" "A malignant neoplasm involving the auditory system" "NCIT:C3000 DOID:833 MESH:D004428" - "Virus diseases caused by the arenaviridae." "MESH:D001117 ICD9:078.89 DOID:3944 MeSH:D001117 SCTID:3303004 MONDO:0005650" + "Virus diseases caused by the arenaviridae." "MESH:D001117 ICD9:078.89 DOID:3944 MeSH:D001117 MONDO:0005650 SCTID:3303004" "The amount of a cysteine--tRNA ligase, cytoplasmic when measured in blood serum." "An inherited metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process." "GARD:18971 UMLS:C0342712 MEDGEN:87452 Orphanet:79197 SCTID:116020001 icd11.foundation:5456505" "A developmental brain abnormality characterized by an excessive amount of small convolutions on the surface of the brain and cognitive dysfunction." "MEDGEN:78605 Orphanet:35981 UMLS:C0266464 icd11.foundation:2081858551 NANDO:1201071 MESH:D065706 SCTID:4945003 GARD:18818 DOID:0080918 NCIT:C116936" @@ -35053,7 +34779,7 @@ "A peripheral neuropathy that is characterized by variants in PRPS1, which causes decreased or impaired function of the PRPS1 enzyme, and presents as a range of peripheral neuropathies that can include features of Charcot-Marie Tooth syndrome, Arts syndrome, or nonsyndromic hearing loss." "CS57560 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158584&type=germplasm" - "A quinone imine having amino substituents in the 2- and 5-positions and 4-aminophenyl substituents on both of the imine nitrogens. It is a trimer formed from 1,4-phenylenediamine." "PMID:19136049 PMID:2195336 Beilstein:11464709 Beilstein:2395527 PMID:20180511 PMID:22592985 CAS:20048-27-5 PMID:17914451 PMID:18844695 PMID:22592989 PMID:17014438 PMID:12160146 PMID:11981821 PMID:10771133 PMID:19657353 Beilstein:3038033 Reaxys:3038033 PMID:22927343 PMID:8735869 PMID:9540973" + "A quinone imine having amino substituents in the 2- and 5-positions and 4-aminophenyl substituents on both of the imine nitrogens. It is a trimer formed from 1,4-phenylenediamine." "PMID:19136049 PMID:2195336 Beilstein:11464709 Beilstein:2395527 PMID:20180511 PMID:22592985 CAS:20048-27-5 PMID:17914451 PMID:18844695 PMID:22592989 PMID:17014438 PMID:12160146 PMID:11981821 PMID:10771133 PMID:19657353 Reaxys:3038033 PMID:22927343 PMID:8735869 PMID:9540973" "MEDGEN:507475 ICD10CM:N47.6 icd11.foundation:1742248014 UMLS:C0004691 SCTID:46090001 ICD9:607.1 DOID:13031" "X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature." "UMLS:C1845050 Orphanet:85453 GARD:16756 SCTID:717224002 ICD10EXP:E85.0+ OMIM:301220 MESH:C564461 MEDGEN:336844 DOID:0111834 ICD10EXP:L99.0*" @@ -35108,7 +34834,7 @@ "MEDGEN:1781114 OMIM:115000 UMLS:C5542154" - "Refractory celiac disease (RCD) is a complex autoimmune disorder much like the more common celiac disease but, unlike celiac disease, it is resistant or unresponsive to at least 12 months of treatment with a strict gluten-free diet. Gliadin, a component of the wheat storage protein gluten, together with similar proteins in barley and rye, are the villains that trigger the immune reaction in celiac disease. The diagnosis of RCD is made by exclusion, especially of any other disorder that can affect the huge number of thread-like projections that line the interior of the intestine (intestinal villi), such as intestinal lymphoma, Crohn's disease, small intestinal bacterial overgrowth or hypogammaglobulinemia." "Orphanet:398063 UMLS:C4749333 MONDO:0018353 ICD10CM:K90.0 GARD:21640 NORD:1653 MEDGEN:1670595" + "Refractory celiac disease (RCD) is a complex autoimmune disorder much like the more common celiac disease but, unlike celiac disease, it is resistant or unresponsive to at least 12 months of treatment with a strict gluten-free diet. Gliadin, a component of the wheat storage protein gluten, together with similar proteins in barley and rye, are the villains that trigger the immune reaction in celiac disease. The diagnosis of RCD is made by exclusion, especially of any other disorder that can affect the huge number of thread-like projections that line the interior of the intestine (intestinal villi), such as intestinal lymphoma, Crohn's disease, small intestinal bacterial overgrowth or hypogammaglobulinemia." "UMLS:C4749333 MONDO:0018353 ICD10CM:K90.0 GARD:21640 NORD:1653 MEDGEN:1670595 Orphanet:398063" "Conotruncal heart malformations are a group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome. A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon)." "GARD:8189 Orphanet:2445 SCTID:218728005 UMLS:C1857586 NANDO:2200275 OMIM:217095 ICD9:747.11 MEDGEN:341803" "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organism exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical." @@ -35150,7 +34876,6 @@ "The chemical reactions and pathways involving a protein. Includes protein modification." "Wikipedia:Protein_metabolism" - "A rare disorder caused by mutation in the AMACR gene. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy." "MeSH:C565768 MONDO:0013681 UMLS:C3280428 GARD:15787 SCTID:700463002 NCIT:C119677 DOID:0060602 MESH:C565768 MEDGEN:482058 NCIt:C119677 NANDO:1200768 OMIM:614307" "OMIM:613328 ICD10:Q87.8" "The determination of the amount of 4-oxo-retinoic acid in a blood sample" "PubChem:6437063 CAS:38030-57-8" "UMLS:C1850778 MEDGEN:342587" @@ -35169,7 +34894,7 @@ "The amount of a caveolin-3 when measured in blood serum." "The amount of a synaptic vesicle membrane protein VAT-1 when measured in blood serum." - "An oxaspiro compound produced by Penicillium griseofulvum. It is used by mouth as an antifungal drug for infections involving the scalp, hair, nails and skin that do not respond to topical treatment." "DrugBank:DB00400 LINCS:LSM-5259 PMID:25476923 KNApSAcK:C00002398 PMID:14407521 CAS:126-07-8 Reaxys:95226 Patent:US3069329 LIPID_MAPS_instance:LMPK13060001 Beilstein:95226 PPDB:1807 KEGG:C06686 PMID:3277037 VSDB:1807 Drug_Central:1331 PMID:16922553 PMID:15078340 Wikipedia:Griseofulvin KEGG:D00209 Patent:US3069328 MetaCyc:CPD-17786 PMID:23111828" + "An oxaspiro compound produced by Penicillium griseofulvum. It is used by mouth as an antifungal drug for infections involving the scalp, hair, nails and skin that do not respond to topical treatment." "DrugBank:DB00400 LINCS:LSM-5259 PMID:25476923 KNApSAcK:C00002398 PMID:14407521 CAS:126-07-8 Reaxys:95226 Patent:US3069329 LIPID_MAPS_instance:LMPK13060001 PPDB:1807 KEGG:C06686 PMID:3277037 VSDB:1807 Drug_Central:1331 PMID:16922553 PMID:15078340 Wikipedia:Griseofulvin KEGG:D00209 Patent:US3069328 MetaCyc:CPD-17786 PMID:23111828" "Any iridogoniodysgenesis in which the cause of the disease is a mutation in the PITX2 gene." "MEDGEN:330750 GARD:3026 OMIM:137600 UMLS:C1842031 DOID:0080609" "The amount of a polyglutamine-binding protein 1 when measured in blood." "PMID:37794183" "The amount of a Rab-interacting lysosomal protein when measured in blood." "PMID:37794183" @@ -35262,7 +34987,6 @@ "ICD10:E85.0" "quantification of some aspect of hair shape, eg whether it is curly or straight" "PMID:26926045" - "Extreme form of obesity where body bass index is 40 or more, which is roughly equivalent to 100 pounds or more over ideal body weight." "SCTID:83911000119104 MeSH:D009767 DOID:11981 NIFSTD:nlx_dys_20090303 ICD9:278.01 NCIt:C34858 MONDO:0005139 MEDGEN:18128 MedDRA:10027966 UMLS:C0028756 SNOMEDCT:238136002 MESH:D009767" "A highly malignant choriocarcinoma derived from the non-placental origin such as the totipotent cells in the testis, the ovary, and the pineal gland. It produces high levels of chorionic gonadotropin and can metastasize widely through the bloodstream to the lungs, brain, liver, bone, and other viscera by the time of diagnosis." "UMLS:C1135873 EFO:1001064 MEDGEN:211656 DOID:4320 MESH:D031954 MONDO:0006871" "Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait." "DOID:0111513 Orphanet:2504 OMIM:156510 MEDGEN:762788 UMLS:C3549874 GARD:3568" @@ -35385,7 +35109,7 @@ "The amount of a prosaposin when measured in blood serum." "Quantification of the amount of simvastatin in a sample." "PMID:35995766" "Atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted." "UMLS:C4015285 MEDGEN:863722 OMIM:616117 GARD:17729 Orphanet:436242 MONDO:0014500" - "A pregnane-based steroidal hormone produced by the outer-section (zona glomerulosa) of the adrenal cortex in the adrenal gland, and acts on the distal tubules and collecting ducts of the kidney to cause the conservation of sodium, secretion of potassium, increased water retention, and increased blood pressure. The overall effect of aldosterone is to increase reabsorption of ions and water in the kidney." "MeSH:D000450 LIPID_MAPS_instance:LMST02030026 KEGG:C01780 Drug_Central:111 SNOMEDCT:42605004 Wikipedia:Aldosterone PDBeChem:AS4 DrugBank:DB04630 NCIt:C219 Reaxys:3224996 HMDB:HMDB0000037 CAS:52-39-1 LINCS:LSM-42770 Beilstein:3224996 PMID:10438974" + "A pregnane-based steroidal hormone produced by the outer-section (zona glomerulosa) of the adrenal cortex in the adrenal gland, and acts on the distal tubules and collecting ducts of the kidney to cause the conservation of sodium, secretion of potassium, increased water retention, and increased blood pressure. The overall effect of aldosterone is to increase reabsorption of ions and water in the kidney." "HMDB:HMDB0000037 DrugBank:DB04630 NCIt:C219 PMID:10438974 Reaxys:3224996 SNOMEDCT:42605004 CAS:52-39-1 LIPID_MAPS_instance:LMST02030026 Wikipedia:Aldosterone Drug_Central:111 PDBeChem:AS4 MeSH:D000450 LINCS:LSM-42770 KEGG:C01780" "OMIM:112440 ICD10:Q73.8" "A plant body that is characteristic of thallophytes , lacks differentiation into distinct members (as stem, leaves, and roots), and does not grow from an apical point." "NCIt:C79679 MAT:0000248 BTO:0001366" @@ -35445,7 +35169,6 @@ "Quantification of phosphatidylcholine acyl-alkyl C30:0 measurement in a sample." "PMID:26068415" "Quantification of the amount of HERV-H LTR-associating protein 2 measurement in a sample." "PMID:36168886" "A normalization data transformation is a data transformation that has objective normalization."@en - "A normalization data transformation is a data transformation that has objective normalization." "Parse Evercode WT v2: Parse Biosciences single cell sequencing that utilizes combinatorial split-pool barcoding based off of SPLiT-seq." "A CD4-positive, alpha-beta T cell that has the phenotype T-bet-positive, CXCR3-positive, CCR6-negative, and is capable of producing interferon-gamma." "FMA:84382 BTO:0001678" "SNOMEDCT:433788004" @@ -35592,7 +35315,7 @@ "Quantification of microfibrillar-associated protein 2 in a sample." "PMID:29875488" "Quantification of the amount of pregnenediol sulfate (C21H34O5S) in a sample." "PMID:35347128" - "A 2-oxo monocarboxylic acid that is acetic acid bearing an oxo group at the alpha carbon atom." "Beilstein:741891 DrugBank:DB04343 HMDB:HMDB0000119 CAS:298-12-4 Gmelin:25752 PMID:23790896 PMID:16396466 PDBeChem:GLV Reaxys:741891 MetaCyc:GLYOX PMID:11479160 KNApSAcK:C00001186 Wikipedia:Glyoxylic_acid KEGG:C00048 PMID:22580421" + "A 2-oxo monocarboxylic acid that is acetic acid bearing an oxo group at the alpha carbon atom." "DrugBank:DB04343 HMDB:HMDB0000119 CAS:298-12-4 Gmelin:25752 PMID:23790896 PMID:16396466 PDBeChem:GLV Reaxys:741891 MetaCyc:GLYOX PMID:11479160 KNApSAcK:C00001186 Wikipedia:Glyoxylic_acid KEGG:C00048 PMID:22580421" "sympton caused by motion, as sea sickness, train sickness, car sickness, air sickness, or space motion sickness. It may include nausea, vomiting and dizziness." "NCIt:C34824 MedDRA:10027990" @@ -35614,7 +35337,6 @@ "An aggressive malignant smooth muscle neoplasm, arising from an extrahepatic bile duct. It is characterized by a proliferation of neoplastic spindle cells." "NCIT:C5848 DOID:5293 MEDGEN:232481 UMLS:C1333508" "Quantification of the amount of 4-acetylphenol sulfate in a sample." "PMID:35347128" "The amount of a zinc fingers and homeoboxes protein 2 when measured in blood serum." - "A heterogeneous group of disorders characterized by HYPERGLYCEMIA and GLUCOSE INTOLERANCE." "NANDO:2100157 ICD10:E13 ICD10:E14 icd11.foundation:465177735 NANDO:2100158 OMIM:612227 MEDGEN:8350 MedDRA:10012625 NCIT:C2985 ICD9:250 MONDO:0005015 MeSH:D003920 SNOMEDCT:73211009 HP:0000819 MESH:D003920 UMLS:C0011849 MedDRA:10012624 NCIt:C2985 MedDRA:10012601 ICD10CM:E08-E13 DOID:9351 SCTID:73211009" "A decreased magnitude of the sensory perception of sound." "UMLS:C0018772 SNOMEDCT_US:103276001 SNOMEDCT_US:95828007 UMLS:C1384666 UMLS:C0011053 SNOMEDCT_US:15188001 Fyler:4868 UMLS:C0339789 SNOMEDCT_US:343087000" "UMLS:C1854568 OMIM:605229 MeSH:C537486 ICD10:G11.4" @@ -35650,7 +35372,6 @@ "An Arterial stiffness measurement is the information output of a non invasive pulse wave velocity assay. Arterial stiffness is a predictor of cardiovascular mortality" "OMIM:155050 MedDRA:10075843 ICD10:Q75.8" - "A form of alveolitis or PNEUMONITIS caused by hypersensitivity to high level of inhaled nitrogen oxides, decomposition products of silage." "UMLS:C0037120 SCTID:61233003 MEDGEN:11428 DOID:4374 icd11.foundation:1960063586 MESH:D012832 MONDO:0006972 MeSH:D012832" "Quantification of the amount of X-11632 in a sample." "PMID:35347128" "quantification of the severity of the skin reaction in response to the injection of TB antigen" @@ -35689,7 +35410,6 @@ "OMIM:225790 UMLS:C3203738 MedDRA:10071718" "A primary or metastatic malignant neoplasm involving the thymus. This category includes malignant thymomas, thymic lymphomas, primary thymic carcinomas, and metastatic carcinomas from other anatomic sites." "SCTID:363434003 ICD9:164.0 MEDGEN:155883 DOID:3277 UMLS:C0751552 NCIT:C4962" - "A congenital or acquired kidney disorder characterized by the presence of renal cysts. [ NCI ]" "NANDO:2200172 MeSH:D052177 ICD10:Q61 ICD10CM:Q61 NCIT:C34750 MedDRA:10011772 SCTID:722223000 MONDO:0002473 MedDRA:10011771 NCIt:C34750 DOID:2975 MEDGEN:854361 UMLS:C1691228 MESH:D052177 UMLS:C3887499" "A disorder caused by a lack of blood flow or gas exchange to or from the fetus in the period immediately before, during, or after the birth process." "UMLS:C0004045 MONDO:0006663 SNOMEDCT:28314004 NCIT:C116313 ICD9:768.9 DOID:11088 SCTID:28314004 GARD:19875 MEDGEN:2469 icd11.foundation:1281282034 MeSH:D001238 MESH:D001238 Orphanet:137577" "The amount of a nibrin when measured in blood." "PMID:37794183" "A mesothelial cell that is part of the small intestine." @@ -35723,7 +35443,7 @@ "The amount of a T-cell leukemia/lymphoma protein 1A when measured in blood." "PMID:37794183" "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cyclophosphamide stimulus." - "A DNA sequencing by synthesis assay that identifies sequence information using DNA polymerase and reversible terminator, requiring immobilization of genomic DNA fragments onto a surface and a specific clonal amplification step known as bridge PCR. Reliance on a reversible terminator allows cycles of DNA chain extension by DNA polymerase and imaging without the need of electrophoretic separation of newly synthesized DNA fragment as with Sanger sequencing." + "A DNA sequencing by synthesis assay that identifies sequence information using DNA polymerase and reversible terminator, requiring immobilization of genomic DNA fragments onto a surface and a specific clonal amplification step known as bridge PCR. Reliance on a reversible terminator allows cycles of DNA chain extension by DNA polymerase and imaging without the need of electrophoretic separation of newly synthesized DNA fragment as with Sanger sequencing."@en "A synthetic minimal media used for yeast growth; It contains a nitrogen source (Bacto-yeast nitrogen base with ammonium sulfate), glucose, distilled water, salts, trace elements and vitamins, to which various growth supplements can be added back, such as one or more amino acids. It can be used as a solid medium with the incusion of agar." "NCIt:C49218 MA:0001724" "quantification of the amount of complement factor H in a sample" @@ -35742,7 +35462,7 @@ "Quantification of the amount of sclerostin in a sample." "PMID:31170332" "Quantification of synaptotagmin-5 in a sample." "PMID:29875488" "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a temozolomide stimulus. temozolomide is a an alkyalting/methylating agent used in the treatment of glioblastoma multiforme and melanoma." - "A sulfur oxoanion obtained by deprotonation of both OH groups of sulfuric acid." "KEGG:C00059 PMID:14597181 PMID:15984785 CAS:14808-79-8 Wikipedia:Sulfate PMID:19812358 PMID:18815700 PMID:16534979 Beilstein:3648446 PMID:17420092 PMID:18846414 KEGG:D05963 PDBeChem:SO4 PMID:16348007 PMID:17439666 PMID:17120760 MetaCyc:SULFATE PMID:16186560 HMDB:HMDB0001448 PMID:15093386 PMID:19244483 PMID:12668033 PMID:30398859 PMID:19628332 PMID:16656509 PMID:16483812 PMID:11798107 PMID:19544990 PMID:16345535 PMID:18398178 PMID:19047345 Reaxys:3648446 PMID:16742518 Gmelin:2120 PMID:17709180 PMID:16742508 PMID:11200094 PMID:16347366 PMID:11581495 PMID:12166931 PMID:11452993" + "A sulfur oxoanion obtained by deprotonation of both OH groups of sulfuric acid." "KEGG:C00059 PMID:14597181 PMID:15984785 CAS:14808-79-8 Wikipedia:Sulfate PMID:19812358 PMID:18815700 PMID:16534979 PMID:17420092 PMID:18846414 KEGG:D05963 PDBeChem:SO4 PMID:16348007 PMID:17439666 PMID:17120760 MetaCyc:SULFATE PMID:16186560 HMDB:HMDB0001448 PMID:15093386 PMID:19244483 PMID:12668033 PMID:30398859 PMID:19628332 PMID:16656509 PMID:16483812 PMID:11798107 PMID:19544990 PMID:16345535 PMID:18398178 PMID:19047345 Reaxys:3648446 PMID:16742518 Gmelin:2120 PMID:17709180 PMID:16742508 PMID:11200094 PMID:16347366 PMID:11581495 PMID:12166931 PMID:11452993" "The number of cell passages if the organism or organism part that is cultured is unicellular or a cell culture; otherwise the number of generations." "NCIt:C88214 MO:43 NCIt:C48151" "The group of sensory neuron cell bodies associated with the facial nerve (seventh cranial nerve)." "EHDAA:5567 Wikipedia:Geniculate_ganglion EHDAA:6644 NCIT:C12721 EHDAA2:0004623 FMA:53414 GAID:718 EFO:0003669 MA:0001076 SCTID:279076005 BAMS:GgVII ZFA:0001291 EHDAA2:0000491 MESH:D005830 TAO:0001291 EMAPA:17569 VHOG:0000707 neuronames:1535 UMLS:C0017406" "Chronic form of sinusitis." "SCTID:40055000 ICD9:473.9 UMLS:C0149516 MEDGEN:101751 MONDO:0006031 NCIT:C35151 icd11.foundation:1836987572 ICD9:473.8 PMID:25838086" @@ -35779,7 +35499,7 @@ "LIPID_MAPS_instance:LMST01030129 Beilstein:3657132 KEGG:C15794 KNApSAcK:C00000181 PMID:32146811 CAS:80736-41-0 PMID:34868105 PMID:30984218 PMID:31333694" "Mapping RNA interactome in vivo (MARIO)" "PMID:27338251" - "A third-generation cephalosporin compound having 2-(2-amino-1,3-thiazol-4-yl)-2-(methoxyimino)acetylamino and [(2-methyl-5,6-dioxo-1,2,5,6-tetrahydro-1,2,4-triazin-3-yl)sulfanyl]methyl side-groups." "PMID:11985490 PMID:29017833 PMID:19625514 Patent:US4327210 PMID:12833570 PMID:17173674 Reaxys:6495519 PMID:11431418 PMID:18773080 NCIt:C62020 PMID:18246742 PMID:11815759 SNOMEDCT:19841008 PMID:19423473 PMID:12146884 HMDB:HMDB0015343 KEGG:D07659 PMID:18611641 PMID:15106316 PMID:17129840 PMID:18484523 PMID:12711894 PMID:11760218 PMID:11067716 PMID:16161754 PMID:17367972 PMID:19367098 CAS:73384-59-5 PMID:15091234 PMID:12797390 KEGG:C06683 PMID:16602117 PMID:16185184 Beilstein:6495519 PMID:11642230 PMID:15828439 PMID:16082406 PMID:15880392 PMID:18977704 PMID:17592517 PMID:17347554 PMID:12830336 PMID:19496200 PMID:15499067 PMID:15225244 PMID:1384868 PMID:15846537 Patent:GB2022090 DrugBank:DB01212 PMID:12569987 PMID:18676229 PMID:11875753 PMID:17216959 PMID:16734965 PMID:16118675 PMID:16640341 PMID:19008722 PMID:11285492 MeSH:D002443 PMID:19649758 PMID:15886468 PMID:21425867 PMID:11605716 PMID:11432680 SNOMEDCT:372670001 Wikipedia:Ceftriaxone Drug_Central:564 PMID:18473104 PMID:11529382 MetaCyc:CPD-12294 PMID:17226043 PMID:12426628 PMID:11856984 PMID:12868545" + "A third-generation cephalosporin compound having 2-(2-amino-1,3-thiazol-4-yl)-2-(methoxyimino)acetylamino and [(2-methyl-5,6-dioxo-1,2,5,6-tetrahydro-1,2,4-triazin-3-yl)sulfanyl]methyl side-groups." "PMID:11985490 PMID:29017833 PMID:19625514 Patent:US4327210 PMID:12833570 PMID:17173674 Reaxys:6495519 PMID:11431418 PMID:18773080 NCIt:C62020 PMID:18246742 PMID:11815759 SNOMEDCT:19841008 PMID:19423473 PMID:12146884 HMDB:HMDB0015343 KEGG:D07659 PMID:18611641 PMID:15106316 PMID:17129840 PMID:18484523 PMID:12711894 PMID:11760218 PMID:11067716 PMID:16161754 PMID:17367972 PMID:19367098 CAS:73384-59-5 PMID:15091234 PMID:12797390 KEGG:C06683 PMID:16602117 PMID:16185184 PMID:11642230 PMID:15828439 PMID:16082406 PMID:15880392 PMID:18977704 PMID:17592517 PMID:17347554 PMID:12830336 PMID:19496200 PMID:15499067 PMID:15225244 PMID:1384868 PMID:15846537 Patent:GB2022090 DrugBank:DB01212 PMID:12569987 PMID:18676229 PMID:11875753 PMID:17216959 PMID:16734965 PMID:16118675 PMID:16640341 PMID:19008722 PMID:11285492 MeSH:D002443 PMID:19649758 PMID:15886468 PMID:21425867 PMID:11605716 PMID:11432680 SNOMEDCT:372670001 Wikipedia:Ceftriaxone Drug_Central:564 PMID:18473104 PMID:11529382 MetaCyc:CPD-12294 PMID:17226043 PMID:12426628 PMID:11856984 PMID:12868545" "General anatomical term which refers to a chamber of an organ with cavitated organ parts. Examples: right ventricle of heart, lateral ventricle of brain." "MAT:0000497 EHDAA:1900 FMA:82553 MFO:0080920 EMAPA:17331 TAO:0000009 BTO:0000862 NCIt:C12730 MA:0000091 EV:0100020 ZFA:0000009" "Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients." "MEDGEN:573766 Orphanet:166282 SCTID:233913007 OMIMPS:608567 MESH:C563907 MedDRA:10040639 GARD:13663 UMLS:C0340491 icd11.foundation:1495462959" "A CD4-negative, CD8-negative, alpha-beta intraepithelial T cell that is found in the columnar epithelium of the gastrointestinal tract." @@ -35835,7 +35555,6 @@ "An instance of spondylodysplastic dysplasia that has a high degree of severity." "Mouse macrophage cell line." "A viral infectious disease that results_in infection in mammals, has_material_basis_in Pestivirus, which is transmitted_by contact with nasal secretions of an infected animal. The infection has_symptom diarrhea, has_symptom respiratory problems, and has_symptom bleeding disorder." "MEDGEN:60191 MONDO:0005909 MESH:D018182 MeSH:D018182 UMLS:C0206611 DOID:4274" - "A autoimmune disease of cardiovascular system and is_a vasculitis that causes chronic inflammation in blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis." "NCIt:C34416 UMLS:C0004943 NCIT:C34416 SCTID:310701003 MedDRA:10004213 NANDO:1200284 SNOMEDCT:310701003 MEDGEN:2568 OMIM:109650 NANDO:2200422 icd11.foundation:1668927157 MeSH:D001528 GARD:848 DOID:13241 MESH:D001528 ICD9:136.1 Orphanet:117 MONDO:0007191" "A cell type is a distinct morphological or functional form of cell. Examples are epithelial, glial etc." "MO:548" "quantification of the amount of intercellular adhesion molecule 2 in a sample" @@ -35858,7 +35577,6 @@ "SNOMEDCT:413622000" "An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues." "MEDGEN:67438 DOID:0050585 HP:0009059 OMIMPS:608594 SCTID:284449005 UMLS:C0221032 NANDO:1200859 MONDO:0006536 MedDRA:10053432 NORD:998" "The tooth development process in which the teeth enter the mouth and become visible." "MeSH:D014078 Wikipedia:Tooth_eruption NCIt:C94569" - "The act of directing or determining; regulation or maintenance of a function or action; a relation of constraint of one entity (thing or person or group) by another." "SNOMEDCT:246106000 NCIt:C61299" "The amount of a Phosphatidylcholine (18:2_20:3) when measured in blood serum." "The lamellated connective tissue constituting the thickest layer of the cornea between the Bowman and Descemet membranes. (MeSH)" "MeSH:D003319 NCIt:C12699 MA:0001245" "CS57890 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158914&type=germplasm" @@ -35926,7 +35644,6 @@ "A primary or metastatic malignant neoplasm that affects the duodenum. Representative examples include carcinoma, lymphoma, and sarcoma." "DOID:10021 MESH:D004379 UMLS:C0153426 NCIT:C9328 MEDGEN:56301 ICD9:152.0 SCTID:363403002" "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 42 carbons in total with 2 double bonds." - "Urticaria is a kind of skin rash notable for pale red, raised, itchy bumps that might also cause a burning or stinging sensation. It is often but not necessarily caused by an allergic reaction." "DOID:1555 MONDO:0005492 MEDGEN:22587 MeSH:D014581 MESH:D014581 MedDRA:10046735 ICD10:L50 SCTID:126485001 SNOMEDCT:64305001 UMLS:C0042109 SNOMEDCT:126485001 ICD9:708.9 HP:0001025 ICD9:708.8 MedDRA:10046756 NCIT:C3432 ICD9:708 ICD10CM:L50 NCIt:C3432" "Is a quantification of interleukin-1 beta, an IL-1 cytokine family protein, secreted by macrophages and a mediator of inflammatory response." "The number of times the HEART VENTRICLES contract per unit of time, usually per minute." "MeSH:D006339 SNOMEDCT:364075005 MedDRA:10019299 NCIt:C49677" @@ -35963,7 +35680,7 @@ "Mesopodial segment of the pes, including the tarsal skeleton and associated tissues." "MA:0000043 EFO:0001409 galen:Ankle GAID:41 CALOHA:TS-2219 SCTID:361292008 Wikipedia:Ankle EMAPA:32783 MESH:D000842 FMA:9665" "Quantification of glia maturation factor gamma in a sample." "PMID:29875488" - "A dicarboxylic acid that is glutaric acid in which one of the two hydrogens at position 3 is substituted by a hydroxy group, while the other is substituted by a methyl group. It has been found to accumulate in urine of patients suffering from HMG-CoA lyase (3-hydroxy-3-methylglutaryl-CoA lyase, EC 4.1.3.4) deficiency. It occurs as a plant metabolite in Crotalaria dura." "Drug_Central:1670 PMID:10916782 Beilstein:1769194 DrugBank:DB04377 PMID:4717513 KEGG:D04897 MetaCyc:CPD-547 PMID:9658458 PMID:6083597 CAS:503-49-1 PMID:3063529 Reaxys:1769194 KEGG:C03761 HMDB:HMDB0000355 KNApSAcK:C00001187 PDBeChem:MAH PMID:17941049" + "A dicarboxylic acid that is glutaric acid in which one of the two hydrogens at position 3 is substituted by a hydroxy group, while the other is substituted by a methyl group. It has been found to accumulate in urine of patients suffering from HMG-CoA lyase (3-hydroxy-3-methylglutaryl-CoA lyase, EC 4.1.3.4) deficiency. It occurs as a plant metabolite in Crotalaria dura." "Drug_Central:1670 PMID:10916782 DrugBank:DB04377 PMID:4717513 KEGG:D04897 MetaCyc:CPD-547 PMID:9658458 PMID:6083597 CAS:503-49-1 PMID:3063529 Reaxys:1769194 KEGG:C03761 HMDB:HMDB0000355 KNApSAcK:C00001187 PDBeChem:MAH PMID:17941049" "Quantification of the amount of esterified brassicasterol in a sample. Brassicasterol is a phytosterol whose chemical structure is similar to that of cholesterol." "PMID:35013273" "The amount of a tubulin-specific chaperone A when measured in blood serum." "The amount of a MHC class I histocompatibility antigen, alpha chain G when measured in blood serum." @@ -36101,6 +35818,7 @@ "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 36 carbons in total with 5 double bonds." "PMID:19347970" "Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the NKX2-5 gene." "MEDGEN:482425 GARD:15803 OMIM:614435 UMLS:C3280795 MedDRA:10021076" "A lymph node macrophage found in the cortex of lymph nodes, in particular in and around the germinal centers, and that participates in phagocytosis of apoptotic B cells from the germinal centers." + "A device which is used to maintain the temperature of one or more hybridization_chamber(s) at a defined, constant temperature."@en "MO:497" "A device which is used to maintain the temperature of one or more hybridization_chamber(s) at a defined, constant temperature." "MO:497" "MEDGEN:934743 UMLS:C4310776 OMIM:616959" "A hematology test result that indicates the presence of an increased white blood cell count and increased neutrophil precursors resembling leukemia, in a peripheral blood smear." "ICD10CM:D72.823 MedDRA:10024373 ICD10:D72.823 MESH:D007955 ICD9:288.8 EFO:1001014 COHD:432283 UMLS:C0023501 MEDGEN:44129 SCTID:56478004 MONDO:0006829 ICD9:288.62" @@ -36113,10 +35831,9 @@ "icd11.foundation:2069754587 Orphanet:220452" "A progenitor cell committed to the erythroid lineage." "ZFA:0009015 BTO:0004911 NCIt:C12526" - "The simplest member of the class of benzoates that is the conjugate base of benzoic acid, comprising a benzoic acid core with a proton missing to give a charge of -1." "Reaxys:1862486 CAS:766-76-7 KEGG:C00180 MetaCyc:BENZOATE HMDB:HMDB0001870 Beilstein:1862486 UM-BBD_compID:c0121 Gmelin:2945" + "The simplest member of the class of benzoates that is the conjugate base of benzoic acid, comprising a benzoic acid core with a proton missing to give a charge of -1." "Reaxys:1862486 CAS:766-76-7 KEGG:C00180 MetaCyc:BENZOATE HMDB:HMDB0001870 UM-BBD_compID:c0121 Gmelin:2945" "The amount of a deoxycytidylate deaminase when measured in blood." "PMID:37794183" "Quantification of stabilin-1 in a sample." "PMID:29875488" - "An infestation with the flea TUNGA PENETRANS causing inflammation, pruritus, and pain, in both humans and other mammals. There is a high incidence of secondary infections such as BACTEREMIA and TETANUS." "MeSH:D058285 SNOMEDCT:64612002 MESH:D058285 UMLS:C0277356 DOID:0050266 DOID:50266 ORDO:Orphanet_879 ICD9:134.1 GARD:393 Orphanet:879 SCTID:64612002 icd11.foundation:2076748409 MEDGEN:78823 MedDRA:10080488 MONDO:0019498 ICD10:B88.1" "An autosomal recessive immunologic disorder with wide phenotypic variation and severity. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus (EBV), as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. Laboratory studies may show low or normal lymphocyte numbers, often with skewed T-cell subset ratios. The disorder results primarily from defects in T-cell function, which causes both immunodeficiency and overall immune dysregulation." "OMIM:619573 UMLS:C5562070 MEDGEN:1794280" "Quantification of the volume of the middle temporal gyrus." "PMID:31530798" "An RNA spike-in is an RNA transcript of known sequence and quantity used to calibrate measurements in RNA hybridization assays, such as DNA microarray experiments, RT-qPCR, and RNA-Seq." @@ -36149,7 +35866,6 @@ "BTO:0002727 RRID:CVCL_0165" "The amount of a interleukin-1 family member 10 when measured in blood serum." "Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific." "MEDGEN:816693 ICD10CM:H47.2 Orphanet:401777 DOID:0112226 UMLS:C3810363 GARD:12903 OMIM:615722" - "A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA." "MedDRA:10003601 MESH:D050197 NCIT:C35771 SCTID:441574008 ICD10CM:I70 NCIT:C35768 NCIt:C35768 SNOMEDCT:38716007 MeSH:D050197 MEDGEN:13948 ICD10:I70 ICD9:440 ICD9:440.8 DOID:1936 MONDO:0005311 UMLS:C0004153" "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." "SCTID:28861008 MESH:D003394 OMIM:123500 NORD:1018 UMLS:C0010273 DOID:2339 NCIT:C84653 icd11.foundation:1535725821 NANDO:1200666 NANDO:2200845 GARD:6206 MEDGEN:1162 Orphanet:207" "An external caudal extension of the body. In chordates, the tail is post-anal, in other animals the anus ends in the tail." "MIAA:0000094 BILA:0000117 GAID:1245 Wikipedia:Tail AEO:0000109 EFO:0000963 WBbt:0005741 EHDAA:9198 BTO:0001348 MESH:D013623 MAT:0000094" "The amount of a nucleus accumbens-associated protein 1 when measured in blood." "PMID:37794183" @@ -36224,7 +35940,7 @@ "MEDGEN:1716098 UMLS:C5394091 OMIM:618797" "FMA:61905 NCIt:C0152309" - "An inorganic peroxide consisting of two hydroxy groups joined by a covalent oxygen-oxygen single bond." "PMID:26352695 HMDB:HMDB0003125 PMID:19107210 PMID:9168257 PMID:9100841 PMID:11893576 PMID:17020896 PMID:9051670 PMID:15298493 PMID:11864786 PMID:10557015 PMID:12867293 PMID:26365231 Drug_Central:3281 PMID:11318558 Reaxys:3587191 PMID:19509065 PMID:9202721 PMID:19229032 PMID:18179203 PMID:10849784 PMID:11387393 KEGG:D00008 MolBase:932 Beilstein:3587191 PMID:8451754 PMID:11809417 KEGG:C00027 PMID:16463018 PMID:7581816 PMID:19297450 PMID:9558114 PMID:18306736 PMID:12934880 PMID:17948137 Wikipedia:Hydrogen_peroxide PMID:18443210 CAS:7722-84-1 PDBeChem:PEO PMID:17179007 PMID:15133946 PMID:11105916 PMID:7548021 PMID:16337875 PMID:10455187 PMID:18592736 Gmelin:509 PMID:8375042 PMID:8048546 PPDB:387 PMID:11033421 PMID:15028418 PMID:17610934 PMID:16864869 MetaCyc:HYDROGEN-PEROXIDE PMID:18182702 PMID:14679422" + "An inorganic peroxide consisting of two hydroxy groups joined by a covalent oxygen-oxygen single bond." "PMID:26352695 HMDB:HMDB0003125 PMID:19107210 PMID:9168257 PMID:9100841 PMID:11893576 PMID:17020896 PMID:9051670 PMID:10557015 PMID:11864786 PMID:15298493 PMID:12867293 PMID:26365231 Drug_Central:3281 PMID:11318558 Reaxys:3587191 PMID:19509065 PMID:9202721 PMID:19229032 PMID:18179203 PMID:10849784 PMID:11387393 KEGG:D00008 MolBase:932 PMID:8451754 PMID:11809417 KEGG:C00027 PMID:16463018 PMID:7581816 PMID:19297450 PMID:9558114 PMID:18306736 PMID:12934880 PMID:17948137 Wikipedia:Hydrogen_peroxide PMID:18443210 CAS:7722-84-1 PDBeChem:PEO PMID:17179007 PMID:15133946 PMID:11105916 PMID:7548021 PMID:16337875 PMID:10455187 PMID:18592736 Gmelin:509 PMID:8375042 PMID:8048546 PPDB:387 PMID:11033421 PMID:15028418 PMID:17610934 PMID:16864869 MetaCyc:HYDROGEN-PEROXIDE PMID:18182702 PMID:14679422" "MEDGEN:419361 OMIMPS:610460 UMLS:C2931223" "The part of the aorta that extends from the origin at the heart to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest." "SCTID:302510009 MESH:D001013 NCIT:C33766 BTO:0000157 Wikipedia:Thoracic_aorta GAID:471 galen:ThoracicAorta FMA:3786 UMLS:C1522460 EMAPA:18603 EFO:0002525 MA:0002569" @@ -36336,7 +36052,7 @@ "EEG discharges recorded on the entire scalp typically seen in persons with epilepsy." "UMLS:C4023476" "The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms." "SNOMEDCT:27113001 MeSH:D001835 NCIt:C81328" "Quantification of prolactin-releasing peptide in a sample." "PMID:29875488" - "A phosphosphingolipid that consists of sphingosine having a phospho group attached at position 1" "PMID:17308123 PMID:15143482 PMID:17409372 PMID:16339142 PMID:15728255 PMID:12039947 HMDB:HMDB0000277 PMID:19815502 PMID:18155002 PMID:15476260 PMID:12069830 PMID:16322129 PMID:12069819 PMID:15158755 PMID:18502612 PMID:17391120 PMID:16956968 PMID:11470796 PMID:17374154 PMID:16046448 PMID:15317688 PMID:12586615 PMID:12963123 PMID:15761190 LIPID_MAPS_instance:LMSP01050001 PMID:15354862 PMID:17158356 PMID:17561264 KEGG:C06124 PMID:16913663 PMID:16554657 PMID:11739995 Wikipedia:Sphingosine-1-phosphate PMID:19808013 PMID:18787560 PMID:17220911 PMID:18541717 PMID:16243846 PMID:18387885 PMID:15567060 PMID:11324700 PMID:19636535 PMID:15326035 PMID:16434032 PMID:19293152 PMID:18973762 PMID:15292266 PMID:19268560 PMID:12730100 PMID:19423865 PMID:12401202 Beilstein:5877213 PMID:12062172 PMID:19082500 PMID:15734735 PMID:11331099 PMID:15044318 PMID:15696050 PMID:15258919 PMID:15778280 PMID:19662499 PMID:19081473 PMID:12833634 CAS:26993-30-6 PMID:12778803 PMID:12742827 PMID:19350109 PMID:12963813 PMID:11418470 PMID:12509810 PMID:16162874 PMID:17904858 PMID:17517398 PMID:17361098 PMID:16940153 PMID:16129068 PMID:12746430 PMID:19620297 PMID:11278407 PMID:19556602 PMID:15992170 PMID:17098744 Reaxys:5877213" + "A phosphosphingolipid that consists of sphingosine having a phospho group attached at position 1" "PMID:17308123 PMID:15143482 PMID:17409372 PMID:16339142 PMID:15728255 PMID:12039947 HMDB:HMDB0000277 PMID:19815502 PMID:18155002 PMID:15476260 PMID:12069830 PMID:16322129 PMID:12069819 PMID:15158755 PMID:18502612 PMID:17391120 PMID:16956968 PMID:11470796 PMID:17374154 PMID:16046448 PMID:15317688 PMID:12586615 PMID:12963123 PMID:15761190 LIPID_MAPS_instance:LMSP01050001 PMID:15354862 PMID:17158356 PMID:17561264 KEGG:C06124 PMID:16913663 PMID:16554657 PMID:11739995 Wikipedia:Sphingosine-1-phosphate PMID:19808013 PMID:18787560 PMID:17220911 PMID:18541717 PMID:16243846 PMID:18387885 PMID:15567060 PMID:11324700 PMID:19636535 PMID:15326035 PMID:16434032 PMID:19293152 PMID:18973762 PMID:15292266 PMID:19268560 PMID:12730100 PMID:19423865 PMID:12401202 PMID:12062172 PMID:19082500 PMID:15734735 PMID:11331099 PMID:15044318 PMID:15696050 PMID:15258919 PMID:15778280 PMID:19662499 PMID:19081473 PMID:12833634 CAS:26993-30-6 PMID:12778803 PMID:12742827 PMID:19350109 PMID:12963813 PMID:11418470 PMID:12509810 PMID:16162874 PMID:17904858 PMID:17517398 PMID:17361098 PMID:16940153 PMID:16129068 PMID:12746430 PMID:19620297 PMID:11278407 PMID:19556602 PMID:15992170 PMID:17098744 Reaxys:5877213" "The prostate gland is a partly muscular, partly glandular body that is situated near the base of the mammalian male urethra and secretes an alkaline viscid fluid which is a major constituent of the ejaculatory fluid." "galen:ProstateGland UMLS:C0033572 CALOHA:TS-0828 SCTID:181422007 MIAA:0000078 BTO:0001129 MA:0000404 FMA:9600 Wikipedia:Prostate NCIT:C12410 EFO:0000858 MESH:D011467 GAID:392 MAT:0000078 EV:0100104 VHOG:0001261 EMAPA:19287" "Quantification of the amount of X-16938 in a sample." "PMID:35347128" @@ -36358,7 +36074,6 @@ "Quantification of the volume of the corpus callosum central." "PMID:31530798" "Microphthalmia-brain atrophy (MOBA) syndrome is a rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter." "DOID:0111812 Orphanet:77299 MESH:C566985 GARD:9292 MEDGEN:370809 SCTID:720010009 UMLS:C1970013 OMIM:611222" "Quantification of the amount of X-14588 in a sample." "PMID:24816252" - "A parasitic protozoa infectious disease that involves infection of humans and cattle caused by a genus of parasitic protozoa Theileria, which is transmitted by ixodid ticks." "MEDGEN:11763 ICD9:136.8 MONDO:0005978 UMLS:C0039753 DOID:3733 MeSH:D013801 SCTID:68771000 MESH:D013801" "Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations." "NORD:984 icd11.foundation:734451870 ICD9:759.89 OMIMPS:135900 NANDO:2200977 MEDGEN:75565 NANDO:1200670 DOID:1925 GARD:6124 SCTID:10007009 NCIT:C35321 MESH:C536436 Orphanet:1465 UMLS:C0265338" "ACTH-independent macronodular adrenal hyperplasia-2 is an autosomal dominant tumor susceptibility with syndromic incomplete penetrance, as a second hit to the ARMC5 gene is required to develop macronodular hyperplasia (Assie et al., 2013)." "UMLS:C4014803 OMIM:615954 MONDO:0014416" "A common lymphoid progenitor that is CD10-positive, CD45RA-positive, CD34-positive and CD38-positive." @@ -36389,7 +36104,6 @@ "Quantification of endogenous retrovirus group V member 1 Env polyprotein in a sample." "PMID:29875488" "Includes individuals who either self-report or have been described by authors as South Asian or one of the sub-populations from this region (e.g Asian Indian). This category also includes individuals who genetically cluster with reference populations from this region, for example 1000 Genomes and/or HapMap\nBEB, GIH, ITU, PJL and STU populations."@en "A PR interval is an electrocardiography measurement which measures from the beginning of the P wave to the beginning of the QRS complex in the heart's electrical cycle" "https://biobank.ndph.ox.ac.uk/showcase/field.cgi?id=22330 NCIt:C83502" - "A commensal Chlamydiaceae infectious disease that is caused by a member of the genus Chlamydia, specifically C. trachomatis." "MESH:D002690 ICD9:079.88 SNOMEDCT:105629000 NCIT:C34463 ICD9:079.98 DOID:11263 ICD9:078.88 SCTID:105629000 MONDO:0005701 NCIt:C34463 MeSH:D002690" "A dicarboxylic acid dianion obtained by deprotonation of both carboxy groups of tetradecanedioic acid; major species at pH 7.3." "Reaxys:3670966" "Quantification of zinc finger protein 382 in a sample." "PMID:29875488" "A cardiopulmonary disorder characterized by systemic arterial hypoxemia secondary to pulmonary hypertension and extrapulmonary right to left shunting across the foramen ovale and ductus arteriosus." "MEDGEN:45824 SCTID:35604006 UMLS:C0031190 MedDRA:10054726 NCIt:C85006 OMIM:617035 NCIT:C85006 OMIM:617039 DOID:13042 MeSH:D010547 SNOMEDCT:35604006 MESH:D010547 MONDO:0022430 SCTID:233815004 SCTID:206597007 ICD10:P29.3" @@ -36455,7 +36169,7 @@ "A cancer that involves the oral opening." "SCTID:187658004 ICD10CM:C06.1 UMLS:C0153374 DOID:9188 ICD9:145.1 MEDGEN:509267" "Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges." "OMIM:616920 ICD10:Q87.8 OMIM:124480" "FBbt:00005556" - "Inflammation of the spinal cord." "SCTID:41370002 MONDO:0002565 MESH:D009187 NCIT:C26832 icd11.foundation:1993728609 UMLS:C0026975 ICD9:323.9 DOID:322 MEDGEN:10230 MedDRA:10028524" + "Inflammation of the spinal cord." "SCTID:41370002 MONDO:0002565 MESH:D009187 NCIT:C26832 icd11.foundation:1993728609 UMLS:C0026975 DOID:322 ICD9:323.9 MEDGEN:10230 MedDRA:10028524" "The amount of a serine protease inhibitor Kazal-type 9 when measured in blood serum." "A melanoma that arises from the structures of the eye or ocular adnexa." "UMLS:C0558356 ONCOTREE:OM MONDO:0006325 EFO:1000403 NCIT:C8562 MEDGEN:107846 DOID:1752 GARD:0007236" @@ -36470,7 +36184,6 @@ "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the JPH2 gene." "OMIM:613873 UMLS:C3151264 DOID:0110323 MEDGEN:462614" "Quantification of the change in low density lipoprotein particle size levels in an individual over time, e.g. over the course of several hours after a high-fat meal." "PMID:34610981" - "Bacterial diseases transmitted or propagated by sexual conduct." "MONDO:0005323 MeSH:D015231 UMLS:C0036917 MESH:D015231 ICD10:A63 MEDGEN:20728" "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 40 carbons in total with 5 double bonds." "PMID:19347970" "Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain. The pain may result from a blood vessel pressing against the trigeminal nerve (the nerve that carries pain, feeling, and other sensations from the brain to the skin of theface), as a complication of multiple sclerosis, or due to compression of the nerve by a tumor or cyst. In some cases, the cause is unknown. Treatment options include medicines, surgery, and complementary approaches." "ICD9:350.1 icd11.foundation:1803581281 MedDRA:10044652 NORD:1791 ICD10:G50.0 MEDGEN:21683 MeSH:D014277 Orphanet:221091 MONDO:0008599 UMLS:C0040997 DOID:12098 GARD:7805 SNOMEDCT:31681005 OMIM:190400 MESH:D014277 SCTID:31681005 ICD10CM:G50.0" "Quantification of peptidyl-prolyl cis-trans isomerase-like 2 in a sample." "PMID:29875488" @@ -36599,7 +36312,7 @@ "The hemodynamic and electrophysiological action of the left HEART VENTRICLE. Its measurement is an important aspect of the clinical evaluation of patients with heart disease to determine the effects of the disease on cardiac performance." "SNOMEDCT:250907009 MeSH:D016277" "FMA:77614" - "An alveolar soft part sarcoma occurring in adults. The most common site of involvement is the extremity, particularly the deep soft tissues of the thigh." "UMLS:C0206657 GARD:0005654 EFO:0007143 GARD:5654 MEDGEN:61652 NCIT:C3750 NORD:760 HP:0012218 UMLS:C0279544 DOID:4239 ONCOTREE:ASPS NANDO:2200063 ICDO:9581/3 MedDRA:10001882 MESH:D018234 Orphanet:163699 ICD10:C49.9 OMIM:606243 SCTID:404056007 MONDO:0011655 ICD9:171.9 NCIT:C7943" + "An alveolar soft part sarcoma occurring in adults. The most common site of involvement is the extremity, particularly the deep soft tissues of the thigh." "UMLS:C0206657 GARD:0005654 EFO:0007143 GARD:5654 MEDGEN:61652 NCIT:C3750 NORD:760 HP:0012218 UMLS:C0279544 DOID:4239 ONCOTREE:ASPS NANDO:2200063 ICDO:9581/3 MedDRA:10001882 MESH:D018234 Orphanet:163699 ICD10:C49.9 OMIM:606243 MONDO:0011655 SCTID:404056007 ICD9:171.9 NCIT:C7943" "Quantification of the amount of theophylline in a sample." "PMID:24816252" "Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit." "SCTID:719202006 MESH:C564796 Orphanet:163665 icd11.foundation:758715188 MEDGEN:338603 DOID:0112292 OMIM:271620 UMLS:C1849053 GARD:16995" @@ -36613,14 +36326,13 @@ "The amount of a RNA-binding protein 24 when measured in blood serum." "Is a quantification of some protein, typically obtained from an individual with the intention of using the measurement in some diagnostic process." "SNOMEDCT:74040009" "The amount of a protein MTSS 2 when measured in blood." "PMID:37794183" - "Benign and malignant neoplasms that arise from the optic nerve or its sheath. OPTIC NERVE GLIOMA is the most common histologic type. Optic nerve neoplasms tend to cause unilateral visual loss and an afferent pupillary defect and may spread via neural pathways to the brain." "SCTID:395505000 MedDRA:10053645 NCIt:C4801 MEDGEN:101181 DOID:3419 MESH:D019574 NCIT:C4801 ICD9:239.7 SNOMEDCT:395505000 MeSH:D019574 UMLS:C0524802 MONDO:0002640" "SNOMEDCT:438636001 MeSH:D046949" "One or more abnormally short long bone." "UMLS:C1854912" "A substance used to destroy fungal pests." "NCIt:C1697 SNOMEDCT:19209005" "A 2-hydroxydicarboxylic acid that is glutaric acid in which one hydrogen alpha- to a carboxylic acid group is substituted by a hydroxy group." "MetaCyc:2-HYDROXYGLUTARIC_ACID KEGG:C02630 PMID:17439666 CAS:2889-31-8 Beilstein:1723805 HMDB:HMDB0059655 Reaxys:1723805 Wikipedia:Alpha-Hydroxyglutaric_acid" "Quantification of the amount of taurochenodeoxycholic acid 3-sulfate in a sample." "PMID:35347128" - "The (S)-enantiomer of azetidine-2-carboxylic acid." "KNApSAcK:C00001343 PMID:1101962 Beilstein:80678 Reaxys:80678 PMID:5041194 Beilstein:3648544 CAS:2133-34-8 KEGG:C08267" + "The (S)-enantiomer of azetidine-2-carboxylic acid." "KNApSAcK:C00001343 PMID:1101962 Reaxys:80678 PMID:5041194 Beilstein:3648544 CAS:2133-34-8 KEGG:C08267" "Moyamoya disease is an angiogenic disease caused by progressive stenosis of the cerebral arteries located at the base of the brain. It affects the intracerebral part of the internal carotids and causes a secondary collateral network to develop following a pattern resembling cigarette smoke ('moya-moya' in Japanese)." "UMLS:C0026654 OMIM:614042 UMLS:C2931384 OMIM:252350 MeSH:C536991 OMIM:608796 ICD10:I67.5 MeSH:D009072 MedDRA:10028047 OMIM:607151" @@ -36672,7 +36384,7 @@ "Pathology involving the thoracic, thoracoabdominal, or abdominal aorta (including aneurysms). (ACC)" "MEDGEN:1618 NCIT:C101253 SCTID:47040006 MESH:D001018 DOID:520 MONDO:0005561 ICD9:447.9 UMLS:C0003493" "The amount of a complement component C8 gamma chain when measured in blood serum." "The amount of a isochorismatase domain-containing protein 1 when measured in blood serum." - "The D-enantiomer of mannitol." "PMID:22770225 CAS:69-65-8 KEGG:C00392 Reaxys:1721898 PMID:15863337 PMID:16901854 PMID:18220330 PMID:17827020 PMID:17973471 PMID:12646037 Beilstein:1721898 PMID:16854081 SNOMEDCT:30761007 MetaCyc:MANNITOL HMDB:HMDB0000765 PMID:18207412 KEGG:D00062 KNApSAcK:C00001165 PMID:11784135 Gmelin:83161 MeSH:D008353 PMID:25108762 Wikipedia:Mannitol PMID:24643482 PMID:17983214 DrugBank:DB00742 NCIt:C625 PMID:17420133 PMID:15658873 Drug_Central:935 SNOMEDCT:387168006 PMID:17336832 PDBeChem:MTL PMID:17979222" + "The D-enantiomer of mannitol." "PMID:22770225 CAS:69-65-8 KEGG:C00392 Reaxys:1721898 PMID:15863337 PMID:16901854 PMID:18220330 PMID:17827020 PMID:17973471 PMID:12646037 PMID:16854081 SNOMEDCT:30761007 MetaCyc:MANNITOL HMDB:HMDB0000765 PMID:18207412 KEGG:D00062 KNApSAcK:C00001165 PMID:11784135 Gmelin:83161 MeSH:D008353 PMID:25108762 Wikipedia:Mannitol PMID:24643482 PMID:17983214 DrugBank:DB00742 NCIt:C625 PMID:17420133 PMID:15658873 Drug_Central:935 SNOMEDCT:387168006 PMID:17336832 PDBeChem:MTL PMID:17979222" "Velopharyngeal dysfunction (VPD) occurs when the muscular soft palate (velum) and lateral pharyngeal walls are physically unable to separate the oral and nasal cavities during speech production leading\nto hypernasality and abnormal speech reduction." "The amount of a threonine--tRNA ligase 1, cytoplasmic when measured in blood." "PMID:37794183" "An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has material basis in homozygous mutation in the CHSY1 gene." "UMLS:C1854466 GARD:9679 DOID:0050814 MEDGEN:381425 OMIM:605282 MESH:C536958 Orphanet:363417" @@ -36691,7 +36403,6 @@ "Imaging results obtained through a radiology procedure." "NCIt:C35869" "A dipeptide formed from L-leucine and L-glutamic acid residues." "HMDB:HMDB0028928 Reaxys:1729058" "The amount of a consortin when measured in blood." "PMID:37794183" - "A viral infectious disease that results_in infection located in skin of mice, has_material_basis_in Ectromelia virus. The infection has_symptom swelling of the feet, has_symptom gangrene, and has_symptom lesions on the skin." "DOID:3296 MeSH:D004482 MESH:D004482 MONDO:0005809" "An ehrlichiosis that results_in infection located_in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted_by lone start tick (Amblyomma americanum ). The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue, has_symptom fever and has_symptom rash" "MEDGEN:96911 NCIm:C0483368 MedlinePlus: 001381 SCTID:85708001 MONDO:0005118 GARD:71 ICD9:082.49 UMLS:C0483368 DOID:0050025" "A g1e er4 is a GATA-1-null erythroblast." "PMID:12832487" "Any Perrault syndrome in which the cause of the disease is a mutation in the TWNK gene." "MEDGEN:863744 GARD:16062 OMIM:616138 UMLS:C4015307" @@ -36740,7 +36451,6 @@ "BTO:0003913 CLO:0007730 RRID:CVCL_0429 MCC:0000500" "A process in which nutrients are taken up from the contents of the intestine." - "A condition characterized by a combination of OSTIUM SECUNDUM ATRIAL SEPTAL DEFECT and an acquired MITRAL VALVE STENOSIS." "MONDO:0006839 UMLS:C0024164 SCTID:204319006 SNOMEDCT:204319006 DOID:1998 MEDGEN:9825 MeSH:D008185 MESH:D008185" "An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation." "UMLS:C0270549 DOID:14320 NCIt:C92622 ICD9:300.02 NCIT:C92622 MEDGEN:452363 SCTID:21897009 Wikipedia:Generalized_anxiety_disorder MONDO:0001942 ICD10CM:F41.1 MedDRA:10018105" "Dilatation of the vessels in the antrum of the stomach. It is associated with portal hypertension, scleroderma, and chronic renal failure. It may cause gastric bleeding." "UMLS:C0267211 DOID:2493 NCIT:C84724 MedDRA:10051585 SCTID:43935004 MONDO:0006767 MESH:D020252 MeSH:D020252 MEDGEN:82753 NCIt:C84724" @@ -36812,14 +36522,14 @@ "The amount of a protein PBMUCL2 when measured in blood." "PMID:37794183" "MA:0000925 FMA:61884" "Pancreatic endocrine tumor, also known as pancreatic neuroendocrine tumor (PNET), describes a group of endocrine tumors originating in the pancreas that are usually indolent and benign, but may have the potential to be malignant. They can be functional, exhibiting a hormonal hypersecretion syndrome, but can be non-functional presenting with non-specific symptoms and include insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma and Zollinger-Ellison syndrome (ZES, or gastrinoma) and other ectopic hormone producing tumors (such as GRFoma)." "MEDGEN:277875 MedDRA:10067518 NCIT:C27720 ONCOTREE:PANET ICDO:8150/1 Orphanet:97253 MONDO:0019954 UMLS:C1337011 DOID:1799 NCIt:C27720 GARD:13034" - "An N-acetyl-L-amino acid that is the N-acetylated derivative of the natural amino acid L-cysteine." "PMID:17174578 PMID:10651166 Reaxys:1724426 PMID:9624310 Wikipedia:Acetylcysteine CAS:616-91-1 KEGG:D00221 PMID:12057717 LINCS:LSM-4672 MeSH:D000111 PDBeChem:SC2 NCIt:C200 PMID:15647642 PMID:11544433 KEGG:C06809 Drug_Central:66 PMID:2026726 PMID:9711192 PMID:24119926 SNOMEDCT:387440002 Gmelin:142554 PMID:19580823 HMDB:HMDB0001890 SNOMEDCT:77731008 Beilstein:1724426 PMID:20819793 MetaCyc:CPD-9175 PMID:15025780 DrugBank:DB06151 PMID:25553484" + "An N-acetyl-L-amino acid that is the N-acetylated derivative of the natural amino acid L-cysteine." "PMID:17174578 PMID:10651166 Reaxys:1724426 PMID:9624310 Wikipedia:Acetylcysteine CAS:616-91-1 KEGG:D00221 PMID:12057717 LINCS:LSM-4672 MeSH:D000111 PDBeChem:SC2 NCIt:C200 PMID:15647642 PMID:11544433 KEGG:C06809 Drug_Central:66 PMID:2026726 PMID:9711192 PMID:24119926 SNOMEDCT:387440002 Gmelin:142554 PMID:19580823 HMDB:HMDB0001890 SNOMEDCT:77731008 PMID:20819793 MetaCyc:CPD-9175 PMID:15025780 DrugBank:DB06151 PMID:25553484" "Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the FAR1 gene." "Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia." "MEDGEN:907954 NANDO:2200478 MESH:D020165 DOID:9280 OMIM:237300 GARD:7269 icd11.foundation:327894003 MeSH:D020165 MedDRA:10058297 Orphanet:147 NANDO:1200803 UMLS:C4082171 MONDO:0009376 SCTID:62522004 NCIT:C84612" "GARD:1039 NCIT:C62569 NANDO:1200611 NANDO:2200988 Orphanet:312" - "A glucocorticoid that is prednisone in which the oxo group at position 11 has been reduced to the corresponding beta-hydroxy group. It is a drug metabolite of prednisone." "SNOMEDCT:116601002 Drug_Central:2245 CAS:50-24-8 KEGG:D00472 Wikipedia:Prednisolone PMID:24392764 Beilstein:1354103 Reaxys:1354103 PMID:23625982 PMID:11294518 MeSH:D011239 KEGG:C07369 DrugBank:DB00860 VSDB:1848 NCIt:C769 HMDB:HMDB0014998" + "A glucocorticoid that is prednisone in which the oxo group at position 11 has been reduced to the corresponding beta-hydroxy group. It is a drug metabolite of prednisone." "SNOMEDCT:116601002 Drug_Central:2245 CAS:50-24-8 KEGG:D00472 Wikipedia:Prednisolone PMID:24392764 Reaxys:1354103 PMID:23625982 PMID:11294518 MeSH:D011239 KEGG:C07369 DrugBank:DB00860 VSDB:1848 NCIt:C769 HMDB:HMDB0014998" "quantification of the amount of interleukin 7 in a sample" @@ -36858,7 +36568,6 @@ "A length unit which is equal to one millionth of a meter or 10^[-6] m." "SNOMEDCT:258674000 NCIt:C48510 MO:421" "The amount of a protein canopy homolog 3 when measured in blood serum." - "Impairment of bile flow in the large BILE DUCTS by mechanical obstruction or stricture due to benign or malignant processes." "SNOMEDCT:20719006 MESH:D001651 MeSH:D001651 SCTID:8262006 MEDGEN:2241 DOID:13619 UMLS:C0005398 MONDO:0006757 NCIt:C34420 MedDRA:10008637" "5’ anchored profiling of Pol II transcripts (CapSeq). Identifies pre-mRNAs, transspliced mRNAs, miRNAs, and noncoding RNAs" "PMID:23260138" "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of verapamil stimulus." "PMID:33829662" "Later stage of diabetic retinopathy, characterized by neovascularisation of the retina" "MedDRA:10036857 DOID:13207 ICD9:362.02 MEDGEN:56347 MONDO:0001660 icd11.foundation:348602398 NCIT:C84457 UMLS:C0154830 SCTID:59276001" @@ -36912,7 +36621,6 @@ "Involuntary urine leakage synchronous with exertion, or actions such as sneezing, or coughing." "SNOMEDCT_US:22220005 UMLS:C0042025" - "a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes, with an incidence of 20 per million newborns in the United States.It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal." "ICD9:757.39 NANDO:2100284 GARD:6359 MedDRA:10014989 SCTID:61003004 UMLS:C0014527 NCIT:C67383 NANDO:2201000 MONDO:0006541 Wikipedia:Epidermolysis_bullosa DOID:2730 ICD10CM:Q81 NANDO:1200234 MESH:D004820 MEDGEN:41832" "Highly sensitive and selective chemical labeling and capture approach for genome-wide profiling of 5-hydroxylmethylcytosine (5hmC) using DNA isolated from about 1,000 cells." "PMID:27477909" "An immunologic disorder characterized by recurrent mainly sinopulmonary infections associated with increased serum IgE. The phenotype is variable, even within families. Some patients have onset of symptoms in early childhood and develop complications, including bronchiectasis or hemoptysis, whereas others have later onset of less severe infections. Immunologic workup usually shows normal leukocyte levels, although some patients may demonstrate alterations in lymphocyte subsets, including T cells. Affected individuals also have variable skeletal abnormalities, including high-arched palate, hyperextensible joints, scoliosis, and bone fractures. The IL6ST mutations are loss-of-function, although the truncated mutant proteins are expressed and interfere with the wildtype protein in a dominant-negative manner by disrupting IL6 and IL11 signaling." "UMLS:C5676920 MEDGEN:1809613 OMIM:619752" "Human mesothelioma cell line; established from the pleural effusion of a 62-year-old Caucasian man with mesothelioma (malignant biphasic) who did not have any prior therapy." "BTO:0002425" @@ -36964,7 +36672,7 @@ "The amount of a peroxiredoxin-like 2A when measured in blood serum." "Chinese hamster organism part-derived fibroblast cell line" "RRID:CVCL_D898 CLO:0018833" "An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy." "Orphanet:209370 MEDGEN:409616 DOID:0111932 MESH:C566878 OMIM:300673 NCIT:C132293 icd11.foundation:240602582 GARD:17103 UMLS:C1968556" - "A diabetic foot is a foot that exhibits any pathology that results directly from diabetes mellitus or any long-term (or \"chronic\") complication of diabetes mellitus. Presence of several characteristic diabetic foot pathologies such as infection, diabetic foot ulcer and neuropathic osteoarthropathy is called diabetic foot syndrome." "MedDRA:10060734 Wikipedia:Diabetic_foot MeSH:D017719" + "A diabetic foot is a foot that exhibits any pathology that results directly from diabetes mellitus or any long-term (or \"chronic\") complication of diabetes mellitus. Presence of several characteristic diabetic foot pathologies such as infection, diabetic foot ulcer and neuropathic osteoarthropathy is called diabetic foot syndrome." "Wikipedia:Diabetic_foot MeSH:D017719 MedDRA:10060734" "The amount of a SH2B adapter protein 3 when measured in blood." "PMID:37794183" "A quantification of CD8-positive T-lymphocytes in blood." "PMID:20045101" "Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene." "MEDGEN:481405 Orphanet:280633 OMIM:614080 DOID:0080138 NCIT:C176896 GARD:12781 UMLS:C3279775" @@ -36988,7 +36696,7 @@ "Quantification of syntaxin-6 in a sample." "PMID:29875488" "UMLS:C4310787 MEDGEN:934754 OMIM:616939" "Quantification of the amount of lisinopril in a sample." "PMID:35995766" - "The N-acetyl derivative of phenylalanine." "Reaxys:2213851 CAS:2901-75-9 Beilstein:2213851" + "The N-acetyl derivative of phenylalanine." "Reaxys:2213851 CAS:2901-75-9" "The emergence of a tooth from within its follicle in the ALVEOLAR PROCESS of the MAXILLA or MANDIBLE into the ORAL CAVITY. (Boucher's Clinical Dental Terminology, 4th ed)" "MeSH:D014078" "These cells were made from Oregon R embryos on the verge of hatching in the late embryonic stage. Originated in the Schneider lab." "PMID:21177962 NCIt:C111072 PMID:25262759" @@ -37069,7 +36777,7 @@ "An disease or disorder caused by infection with Tunga penetrans." "MeSH:D058285 SNOMEDCT:64612002 MESH:D058285 UMLS:C0277356 DOID:0050266 DOID:50266 ORDO:Orphanet_879 ICD9:134.1 GARD:393 Orphanet:879 SCTID:64612002 icd11.foundation:2076748409 MEDGEN:78823 MedDRA:10080488 MONDO:0019498 ICD10:B88.1" "Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry." "OMIM:277590 NORD:1839 ICD9:759.89 icd11.foundation:2042913723 GARD:7878 DOID:14731 Orphanet:3447 SCTID:63119004 MESH:C536687 NCIT:C125599 NANDO:1200659 UMLS:C0265210 GTR:AN0102080 MEDGEN:120511 NANDO:2200957 GTR:AN0102079" "Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration." "GARD:195 DOID:14451 icd11.foundation:1308452752 MESH:D020513 UMLS:C0238357 OMIM:170500 MEDGEN:68665 NCIT:C123429 SCTID:304737009 NANDO:1200504 Orphanet:682" - "A fluoroalkanoic acid that is perfluorinated decanoic acid." "Beilstein:1810811 PMID:24630253 Reaxys:1810811 PMID:24367824 PMID:24582365 Gmelin:35659 CAS:335-76-2" + "A fluoroalkanoic acid that is perfluorinated decanoic acid." "PMID:24630253 Reaxys:1810811 PMID:24367824 PMID:24582365 Gmelin:35659 CAS:335-76-2" "Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis." "UMLS:C4274970 Orphanet:168621 icd11.foundation:381445908 GARD:20098 MEDGEN:909364 SCTID:715861004" "MO:771" @@ -37108,7 +36816,6 @@ "Quantification of argininosuccinate levels in a sample." "PMID:23823483" "A poliomyelitis that results_in atrophy located_in muscle, many years after the initial infection, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3. It is characterized by new weakening in muscles that were previously affected by the polio infection and in muscles that were unaffected. The infection has_symptom muscle weakness, has_symptom muscle pain, has_symptom sleep apnea, and has_symptom breathing problems." "MESH:D016262 MEDGEN:36363 DOID:4952 SCTID:31097004 UMLS:C0080040 MeSH:D016262 MONDO:0017416 icd11.foundation:2018885243 NORD:1600 GARD:4454 Orphanet:2942 ICD10:G14" "Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome." "GARD:1288 icd11.foundation:1168921980 UMLS:C3489789 MEDGEN:483742 Orphanet:79304 OMIM:601847 DOID:0070222 NANDO:1201044" - "A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading." "MONDO:0008487 SNOMEDCT:69878008 ICD9:256.4 icd11.foundation:1213633323 NCIt:C26862 MEDGEN:10836 Orphanet:3185 NCIT:C26862 NANDO:2100149 MESH:D011085 DOID:11612 NANDO:2200409 OMIM:184700 UMLS:C0032460 SCTID:69878008 MeSH:D011085" "Quantification of sphingomyeline C20:2 measurement in a sample." "PMID:26068415" @@ -37193,7 +36900,7 @@ "A molar is a unit of molarity which expresses a concentration of 1 mole of solute per liter of solution (mol/L)." "MeSH:D008963 SNOMEDCT:421643008 SNOMEDCT:422192003 MO:936 SNOMEDCT:257969007" "quantification of the amount of sialic acid-binding Ig-like lectin 14 in a sample" "SNOMEDCT:258828002" - "A morphinane alkaloid that is a highly potent opiate analgesic psychoactive drug. Morphine acts directly on the central nervous system (CNS) to relieve pain but has a high potential for addiction, with tolerance and both physical and psychological dependence developing rapidly. Morphine is the most abundant opiate found in Papaver somniferum (the opium poppy)." "VSDB:2982 PMID:21061062 PMID:24096538 SNOMEDCT:373529000 PMID:12593758 PMID:23555556 PDBeChem:MOI Beilstein:93704 PMID:23325235 KEGG:C01516 PMID:20071451 SNOMEDCT:73572009 PMID:17171884 PMID:27735107 PMID:23292329 PMID:24306419 PMID:9231550 PMID:15019787 KEGG:D08233 MeSH:D009020 PDB:1Q0Y PMID:23927484 Reaxys:93704 Drug_Central:1845 PMID:17667569 DrugBank:DB00295 PMID:29368335 NCIt:C62051 PMID:27866460 CAS:57-27-2 PMID:23988259 PMID:19371311 KNApSAcK:C00001889 MetaCyc:MORPHINE Wikipedia:Morphine PMID:27815868" + "A morphinane alkaloid that is a highly potent opiate analgesic psychoactive drug. Morphine acts directly on the central nervous system (CNS) to relieve pain but has a high potential for addiction, with tolerance and both physical and psychological dependence developing rapidly. Morphine is the most abundant opiate found in Papaver somniferum (the opium poppy)." "VSDB:2982 PMID:21061062 PMID:24096538 SNOMEDCT:373529000 PMID:12593758 PMID:23555556 PDBeChem:MOI PMID:23325235 KEGG:C01516 PMID:20071451 SNOMEDCT:73572009 PMID:17171884 PMID:27735107 PMID:23292329 PMID:24306419 PMID:9231550 PMID:15019787 KEGG:D08233 MeSH:D009020 PDB:1Q0Y PMID:23927484 Reaxys:93704 Drug_Central:1845 PMID:17667569 DrugBank:DB00295 PMID:29368335 NCIt:C62051 PMID:27866460 CAS:57-27-2 PMID:23988259 PMID:19371311 KNApSAcK:C00001889 MetaCyc:MORPHINE Wikipedia:Morphine PMID:27815868" "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an erlotinib stimulus." "A candela is a luminous intensity unit which equal to the luminous intensity, in a given direction, of a source that emits monochromatic radiation of frequency 540 x 1012 hertz and that has a radiant intensity in that direction of 1/683 watt per steradian." "NCIt:C42538 SNOMEDCT:282254003 MO:572" @@ -37215,7 +36922,6 @@ "OMIM:152900" - "A staphylococcal infectious disease that is caused due to the infection by Gram-positive bacterium Staphylococcus aureus, which is an important cause of hospital-acquired infection that results in the formation of abscesses, empyema, pneumothorax, and cyst." "ICD9:482.49 MedDRA:10041928 ICD9:482.4 MEDGEN:18532 SCTID:22754005 MeSH:D011023 ICD9:482.40 DOID:12608 UMLS:C0032308 MONDO:0005970 MESH:D011023" "A benign or malignant neoplasm affecting the vagina. Representative examples of benign neoplasms include squamous papilloma and melanocytic nevus. Representative examples of malignant neoplasms include carcinoma, melanoma, and sarcoma." "NCIT:C3437 ICD9:239.5 MEDGEN:22608 MONDO:0021050 EFO:1001447 UMLS:C0042258 SCTID:126921000 ONCOTREE:VULVA" "FMA:30319" "Quantification of the amount of 1-(1-enyl-palmitoyl)-GPE (P-16:0) in a sample." "PMID:35347128" @@ -37254,7 +36960,6 @@ "OMIM:146200 MeSH:C537156 OMIM:307700 UMLS:C1832648 OMIM:615361 ICD10:E20.8 OMIM:601198" "GARD:16385 DOID:0112145 MEDGEN:1720448 OMIM:618826 UMLS:C5394208" - "Glaucoma in which the angle of the anterior chamber is open and the trabecular meshwork does not encroach on the base of the iris." "UMLS:C0017612 OMIM:603383 MESH:D005902 MedDRA:10030857 OMIM:609887 MeSH:D005902 SCTID:84494001 MEDGEN:6611 ICD9:365.10 OMIM:177700 NCIT:C34641 SNOMEDCT:84494001 MedDRA:10030856 ICD9:365.1 SCTID:46168003 OMIM:613100 MONDO:0005338 DOID:1067 OMIM:137760 OMIM:606657 ICD9:365.13" "Autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development, with cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable. The cause is mutations in the ADPRHL2 gene." "OMIM:618170 UMLS:C4748527 MEDGEN:1648391 DOID:0070352" "Vein of Galen aneurysm is a rare formof arteriovenous malformation in which the embryonic precursor to the vein of Galen, a vein at the base of the brain, dilates causing too much blood to rush to the heart. This can lead to rapid heart failure. Other features may include increased head circumference resulting from hydrocephalus, unusually prominent veins on the face and scalp, developmental delay, persistent headache, and other neurological findings. Vein of Galen aneurysm is often recognized on an ultrasound late in pregnancy. In other cases, it is diagnosed after birth. Although the exact cause remains unknown, this condition appears to result from a defect in early fetal development. Treatment is aimed at decreasing the blood flow through the malformation while maximizing the blood supply to the brain. Minimally invasive surgical techniques are preferred, such as endovascular embolization." "SCTID:253194008 GARD:5467 MEDGEN:140912 MESH:C536535 UMLS:C0431420 Orphanet:1053 icd11.foundation:1884295064" @@ -37377,7 +37082,7 @@ "Orphanet:443988 DOID:0111625 GARD:17757 OMIM:219730 MEDGEN:346584 UMLS:C1857423" "An autoimmune disease of skin and connective tissue characterized by large blisters." "NANDO:1200632 NANDO:1200633 MONDO:0019082 GARD:5972 ICD9:694.5 ICD10CM:L12.0 Orphanet:703 icd11.foundation:233308710 MedDRA:10006567 SCTID:77090002 ICD10:L12 MESH:D010391 MEDGEN:10620 NCIT:C84389 DOID:8506 UMLS:C0030805 MeSH:D010391" - "Enables the energy-independent facilitated diffusion of a calcium ion through a transmembrane aqueous pore or channel." "Reactome:R-HSA-8949145 Reactome:R-HSA-210420 Reactome:R-HSA-9663785 Reactome:R-HSA-3295579 Reactome:R-HSA-8949178 Reactome:R-HSA-139855 Reactome:R-HSA-139854" + "Enables the energy-independent facilitated diffusion of a calcium ion through a transmembrane aqueous pore or channel." "Reactome:R-HSA-8949145 Reactome:R-HSA-9663785 Reactome:R-HSA-210420 Reactome:R-HSA-9858800 Reactome:R-HSA-3295579 Reactome:R-HSA-8949178 Reactome:R-HSA-139855 Reactome:R-HSA-139854" "The amount of a signal peptidase complex subunit 1 when measured in blood serum." "Quantification of serine protease inhibitor Kazal-type 9 in a sample." "PMID:29875488" "The amount of a UDP-glucuronosyltransferase 1-6 when measured in blood serum." @@ -37423,7 +37128,6 @@ "Acute hemorrhagic leukoencephalitis(AHL) is a veryrareform of acute disseminated encephalomyelitis that usuallyresults indeath. It is characterized by a brief but intense attack of inflammation in the brain and spinal cord that damages the myelin -- the protective covering of the nerve fibers. It may also cause bleeding in the brain, leading to damage of the white matter. Symptoms usually come on quickly, beginning with symptoms such as fever, neck stiffness, fatigue, headache, nausea vomiting,seizures, and coma.AHL has a very poor prognosis, with rapid deterioration and death usually occurring within days to one week after onset of symptoms because of severe inflammation in the brain. Although the exact cause is unclear,AHL usually followsaviral infection, or less often, vaccination for measles, mumps, or rubella. Some researchers think that an infection or vaccination can initiate an autoimmune process in the body thus leading to AHL." "NCIT:C84535 OMIM:606752 MeSH:D004684 GARD:8629 DOID:10992 SCTID:72986009 MESH:D004684 MedDRA:10058993 MEDGEN:4937 MONDO:0011716 ICD9:136.9 UMLS:C0014077" "Quantification of the maximum area of the right cardiac atrium." "PMID:35697867" "Paired-end restriction-site associated DNA marker generation (PE RAD)" "PMID:21712251" - "A second is a time unit which is equal to the duration of 9 192 631 770 periods of the radiation corresponding to the transition between the two hyperfine levels of the ground state of the caesium 133 atom." "NCIt:C42535 NCIt:C49463 SNOMEDCT:81170007 NCIt:C25666" "The amount of a SCAN domain-containing protein 1 when measured in blood serum." "The amount of a interleukin-17 receptor A when measured in blood serum." "The Vero cell line was initiated from the kidney of a normal adult African green monkey on March 27, 1962, by Y. Yasumura and Y. Kawakita at the Chiba University in Chiba, Japa" "BTO:0001444 CLO:0009524 RRID:CVCL_0059 CLO:0050515" @@ -37492,7 +37196,7 @@ "The amount of a actin-related protein 2/3 complex subunit 2 when measured in blood serum." "A short nucleotide sequence that is added during a single cell library preparation to identify reads from an individual cell." "A cancer that involves the parathyroid gland." "NCIT:C9322 SCTID:363481002 ICD9:194.1 MEDGEN:102283 ONCOTREE:PTH UMLS:C0153653" - "A monoterpene that is octa-1,6-diene bearing methylene and methyl substituents at positions 3 and 7 respectively." "KNApSAcK:C00000853 Wikipedia:Myrcene Beilstein:1719990 NCIt:C95164 KEGG:C06074 PMID:25503374 LIPID_MAPS_instance:LMPR0102010005 Gmelin:279258 PMID:9268308 MeSH:C509595 HMDB:HMDB0038169 PMID:25622554 CAS:123-35-3 Reaxys:1719990 PMID:27439360 PMID:25280163 PMID:15299125 MetaCyc:CPD-4888 NCIt:C72219 PMID:25909988" + "A monoterpene that is octa-1,6-diene bearing methylene and methyl substituents at positions 3 and 7 respectively." "KNApSAcK:C00000853 Wikipedia:Myrcene NCIt:C95164 KEGG:C06074 PMID:25503374 LIPID_MAPS_instance:LMPR0102010005 Gmelin:279258 PMID:9268308 MeSH:C509595 HMDB:HMDB0038169 PMID:25622554 CAS:123-35-3 Reaxys:1719990 PMID:27439360 PMID:25280163 PMID:15299125 MetaCyc:CPD-4888 NCIt:C72219 PMID:25909988" "The onset of puberty before the age of 8 years in girls." "UMLS:C0271616 SNOMEDCT_US:19911007" "OMIM:618825 UMLS:C5394205 MEDGEN:1716581" "A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity." "MedDRA:10045242 OMIM:125853 MeSH:D003924 NCIt:C26747 ICD10:E11 SNOMEDCT:44054006 OMIM:601283 DOID:9352 OMIM:616087" @@ -37722,7 +37426,6 @@ "A role that a material entity can play which enables particular conditions used to grow organisms or parts of the organism. This includes isolated environments such as cultures and open environments such as field studies." "MO:183" "The amount of a UDP-glucose 6-dehydrogenase when measured in blood." "PMID:37794183" - "A temperature unit is a base unit which is a standard measure of the average kinetic energy of the particles in a sample of matter." "MO:48" "OMIM:615362 ICD10:E75.4" "ICD10:Q44.7 OMIM:118450" "Vasculature that is part of a head [Automatically generated definition]." "EFO:0003656 TAO:0001267 XAO:0004152 ZFA:0001267 FMA:74710" @@ -37791,7 +37494,7 @@ "Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies." "Orphanet:183490 UMLS:C5679594 GARD:20277 MEDGEN:1842494" "The amount of a aldo-keto reductase family 1 member B10 when measured in blood." "PMID:37794183" - "An amino-acid betaine that is butanoate substituted with a hydroxy group at position C-3 and a trimethylammonium group at C-4." "PMID:22770225 CAS:461-06-3 Patent:US4315944 PMID:23868375 DrugBank:DB02648 Beilstein:1866665 Patent:US4255449 MetaCyc:DL-CARNITINE KEGG:C00487 Wikipedia:Carnitine Reaxys:1866665" + "An amino-acid betaine that is butanoate substituted with a hydroxy group at position C-3 and a trimethylammonium group at C-4." "PMID:22770225 CAS:461-06-3 Patent:US4315944 PMID:23868375 DrugBank:DB02648 Patent:US4255449 MetaCyc:DL-CARNITINE KEGG:C00487 Wikipedia:Carnitine Reaxys:1866665" "The determination of the ratio of Hemoglobin S compared to total Hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage. [ NCI ]" "NCIt:C81279 UMLS:C2825557" "A 1-acyl-sn-glycerol where arachidonoyl forms the 1-acyl group." "Reaxys:9229411 Beilstein:9806383 CAS:124511-15-5 KEGG:C13857" @@ -37805,7 +37508,7 @@ "Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body." "MEDGEN:45392 MESH:D010468 UMLS:C0030975" "A benign adipose tissue neoplasm of the pleural cavity. It may be purely intra-thoracic or extend to the chest wall." "NCIT:C6644 SCTID:2460001000004103 MEDGEN:233862 UMLS:C1335434 DOID:10195" - "A 3beta-hydroxy steroid resulting from the substitution of the 3beta-hydrogen of tomatidane by a hydroxy group." "PMID:21357296 PMID:18544347 PMID:6056488 Patent:US2770618 Reaxys:91747 Beilstein:91747 PMID:5704163 KNApSAcK:C00002267 KEGG:C10826 CAS:77-59-8" + "A 3beta-hydroxy steroid resulting from the substitution of the 3beta-hydrogen of tomatidane by a hydroxy group." "PMID:21357296 PMID:18544347 PMID:6056488 Patent:US2770618 Reaxys:91747 PMID:5704163 KNApSAcK:C00002267 KEGG:C10826 CAS:77-59-8" "Cricetulus griseus (chinese hamster) lung fibroblast cell line." "RRID:CVCL_2886 CLO:0002741 BTO:0002995" "Infections caused by viruses of the genus cardiovirus, family picornaviridae." "DOID:3667 MONDO:0005691 UMLS:C0206617 MeSH:D018188 MEDGEN:60193 MESH:D018188" @@ -37824,12 +37527,10 @@ "The amount of a interferon regulatory factor 6 when measured in blood serum." "Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases." "icd11.foundation:1729261719 UMLS:C0008029 MESH:D002636 Orphanet:184 DOID:1856 MedDRA:10070535 NANDO:2200444 ICD9:526.89 SCTID:76098004 OMIM:118400 NCIT:C84630 GARD:6036 MEDGEN:40219" - "A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact." "MONDO:0005161 MEDGEN:87475 MedDRA:10063001 NCIt:C27851 SNOMEDCT:240532009 ICD9:079.4 NCIT:C27851 SCTID:240532009 DOID:11166 UMLS:C0343641" "A disease involving the mouth." "DOID:403 SCTID:118938008 MeSH:D009059 ICD9:528.9 SNOMEDCT:118938008 UMLS:C0026636 ICD10:K13 ICD10:K14 MONDO:0006858 NCIT:C3240 MESH:D009059 MEDGEN:6448" "A tissue-resident macrophage located in the bone marrow. This cell type is B220-negative, CD3e-negative, Ly-6C-negative, CD115-positive, F4/80-positive." "BTO:0004732" - "Abnormal intravascular leukocyte aggregation and clumping often seen in leukemia patients. The brain and lungs are the two most commonly affected organs. This acute syndrome requires aggressive cytoreductive modalities including chemotherapy and/or leukophoresis. It is differentiated from LEUKEMIC INFILTRATION which is a neoplastic process where leukemic cells invade organs." "MedDRA:10024404 MeSH:D018921 MESH:D018921 MONDO:0006831 DOID:12986 MEDGEN:84394 NCIt:C4062 UMLS:C0282548 SNOMEDCT:30419000" "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result a mycophenolic acid stimulus." "A supporting cell projecting inward from the basement membrane of seminiferous tubules. They surround and nourish the developing male germ cells and secrete androgen binding protein. Their tight junctions with the spermatogonia and spermatocytes provide a blood-testis barrier." "BTO:0001238 FMA:72298 CALOHA:TS-0922 ZFA:0009133 NCIt:C12595 VHOG:0001348" "The amount of a LIM domain-binding protein 1 when measured in blood serum." @@ -37919,7 +37620,7 @@ "UMLS:C3275446 MEDGEN:477077 GARD:18445 OMIM:300854" - "A disease involving the cardial valve." "MESH:D006349 NCIT:C45525 NCIt:C45525 NANDO:2100105 UMLS:C0018824 MONDO:0002869 SCTID:368009 MedDRA:10061406 MEDGEN:5463 ICD9:424.99 ICD10:I08 DOID:4079 MeSH:D006349" + "A disease involving the cardial valve." "MESH:D006349 NCIT:C45525 NCIt:C45525 NANDO:2100105 UMLS:C0018824 MONDO:0002869 SCTID:368009 MedDRA:10061406 MEDGEN:5463 ICD10:I08 ICD9:424.99 DOID:4079 MeSH:D006349" "Absence of the crystalline lens of the eye as a result of a developmental defect." "UMLS:C1853230" "Quantification of leucine-rich repeat-containing protein 74A in a sample." "PMID:29875488" "The amount of a asparagine--tRNA ligase, cytoplasmic when measured in blood." "PMID:37794183" @@ -37935,7 +37636,6 @@ "Quantification of phospholipids in medium VLDL." "An autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa. It is associated with a poor visual prognosis." "GARD:16694 MEDGEN:7435 OMIM:153880 NCIT:C34794 UMLS:C0024440 SCTID:312921000 ICD10CM:H35.5 DOID:4447 Orphanet:75381" - "A disease involving the urethra. [database_cross_reference: MONDO:DesignPattern]" "MESH:D014522 SCTID:4985009 MEDGEN:22569 NCIT:C26903 ICD10:N36 UMLS:C0041969 MONDO:0004184 DOID:732" "Quantification of triglycerides in medium VLDL." "Quantification of sodium/potassium-transporting ATPase subunit alpha-1 in a sample." "PMID:29875488" @@ -37951,7 +37651,7 @@ "Subacute myelo-optico-neuropathy (SMON) is a neuro-degenerative disorder caused by poisoning due to over-dose and prolonged oral administration of clioquinol. This was shown by an epidemiological study in Japan in 1971, and confirmed by a series of animal experiments. It is characterized by symptoms of severe myelo-neuropathy: painful dysesthesia and paresthesia (such as tingling, stinging, fastening, cold, and sticking sensations) initiating in and moving upwards from the feet, loss of sensations, gait disturbance with ataxic and spastic paraplegia, autonomic disorders, and visual impairment, which almost invariably followed a severe abdominal pain (and sometimes led to loss of consciousness and opisthotonus), constipation, and diarrhea." "MedDRA:10058009" "Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene." "OMIM:614083 GARD:15754 UMLS:C3469528 MEDGEN:854018 DOID:0111082" - "A monocarboxylic acid anion resulting from the removal of a proton from the carboxy group of acetic acid." "PMID:22211106 CAS:71-50-1 NCIt:C94719 Wikipedia:Acetate PMID:22371380 Gmelin:1379 PDBeChem:ACT PMID:17190852 KEGG:C00033 MetaCyc:ACET DrugBank:DB03166 UM-BBD_compID:c0050 Reaxys:1901470 SNOMEDCT:54526002 Beilstein:1901470" + "A monocarboxylic acid anion resulting from the removal of a proton from the carboxy group of acetic acid." "PMID:22371380 NCIt:C94719 MetaCyc:ACET UM-BBD_compID:c0050 SNOMEDCT:54526002 PMID:17190852 PDBeChem:ACT Reaxys:1901470 Gmelin:1379 KEGG:C00033 CAS:71-50-1 Wikipedia:Acetate PMID:22211106 DrugBank:DB03166" "The amount of a tRNA (cytosine-5-)-methyltransferase when measured in blood." "PMID:37794183" "Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 liters in children." "MedDRA:10029147 NANDO:1200742 Orphanet:223 GARD:7178 NCIT:C84919 MEDGEN:57876 ICD10CM:N25.1 ICD9:588.1 NANDO:2200326 DOID:12387 NORD:1497 icd11.foundation:1417669099 UMLS:C0162283 SCTID:111395007 MESH:D018500" @@ -38148,7 +37848,6 @@ "Disorders related or resulting from abuse or mis-use of opioids." "UMLS:C0524662 MESH:D009293 MONDO:0005530 ICD9:304.00 SCTID:75544000 DOID:2559 MEDGEN:99372 ICD10:F11 ICD9:304.0 MeSH:D009293" "A Parkinson disease that begins after around the age of 50." "UMLS:C3160718 Orphanet:411602 SCTID:716662004 OMIM:168600 DOID:0060892 GARD:17684 MEDGEN:463618" - "Heavy metal poisoning is the accumulation of heavy metals, in toxic amounts, in the soft tissues of the body. Symptoms and physical findings associated with heavy metal poisoning vary according to the metal accumulated. Many of the heavy metals, such as zinc, copper, chromium, iron and manganese, are essential to body function in very small amounts. But, if these metals accumulate in the body in concentrations sufficient to cause poisoning, then serious damage may occur. The heavy metals most commonly associated with poisoning of humans are lead, mercury, arsenic and cadmium. Heavy metal poisoning may occur as a result of industrial exposure, air or water pollution, foods, medicines, improperly coated food containers, or the ingestion of lead-based paints." "SCTID:85866007 GARD:6577 ICD10:T56 ICD9:985.8 MONDO:0023305 MESH:D000075322 MedDRA:10019359 NORD:1219" "Enables the transfer of sialic acid from one side of a membrane to the other." "A neoplasm that arises from the glandular epithelium of the duodenum. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." "UMLS:C1333322 MEDGEN:232438 EFO:1000225 MONDO:0006187 NCIT:C5338 DOID:0050927" "The amount of a cold-inducible RNA-binding protein when measured in blood serum." @@ -38161,14 +37860,13 @@ "Human acute promyelocytic leukemia" "RRID:CVCL_VV80" "The process of allaying nervous excitement or the state of being calmed." "UMLS:C0344106 NCIt:C21097" - "The L-enantiomer of ascorbic acid and conjugate acid of L-ascorbate." "PMID:12569111 MeSH:D001205 PMID:17253561 NCIt:C68507 PMID:16611389 PMID:5477017 Beilstein:84272 SNOMEDCT:43706004 PMID:19273781 Reaxys:84272 PMID:17623524 KEGG:D00018 KEGG:C00072 PMID:17636648 Gmelin:4087 PMID:7711198 Wikipedia:Ascorbic_Acid NCIt:C285 PMID:491997 PMID:15925292 PDBeChem:ASC HMDB:HMDB0000044 PMID:9506998 PMID:16725131 PMID:8467348 PMID:16425787 PMID:3015170 PMID:10799361 BPDB:2405 PMID:19692922 PMID:22770225 PMID:19580823 MetaCyc:ASCORBATE KNApSAcK:C00001179 PMID:12180551 DrugBank:DB00126 PMID:16522902 PMID:8726814 PMID:15917019 PMID:15949874 PMID:18813862 CAS:50-81-7 Drug_Central:4072" + "The L-enantiomer of ascorbic acid and conjugate acid of L-ascorbate." "PMID:12569111 MeSH:D001205 PMID:17253561 NCIt:C68507 PMID:16611389 PMID:5477017 SNOMEDCT:43706004 PMID:19273781 Reaxys:84272 PMID:17623524 KEGG:D00018 KEGG:C00072 PMID:17636648 Gmelin:4087 PMID:7711198 Wikipedia:Ascorbic_Acid NCIt:C285 PMID:491997 PMID:15925292 PDBeChem:ASC HMDB:HMDB0000044 PMID:9506998 PMID:16725131 PMID:8467348 PMID:16425787 PMID:3015170 PMID:10799361 BPDB:2405 PMID:19692922 PMID:22770225 PMID:19580823 MetaCyc:ASCORBATE KNApSAcK:C00001179 PMID:12180551 DrugBank:DB00126 PMID:16522902 PMID:8726814 PMID:15917019 PMID:15949874 PMID:18813862 CAS:50-81-7 Drug_Central:4072" "Quantification of the amount of X-13835 in a sample." "PMID:35347128" "OMIM:108650 ICD10:G11.4" "When a drug is administed to inhibit or enhance sporting performance." "MedDRA:10079763" "The space between the arachnoid and pia mater." "EMAPA:32666 GAID:689 BTO:0000230 Wikipedia:Subarachnoid_space MESH:D013346 FMA:83716 SCTID:362311001" "Quantification of the amount of phenylacetate in a sample." "PMID:24816252" - "A neoplasm of follicle centre B cells which has at least a partial follicular pattern. Follicular lymphomas comprise about 35% of adult non-Hodgkin lymphomas in the U.S. and 22% worldwide. Most patients have widespread disease at diagnosis. Morphologically, follicular lymphomas are classified as Grade 1, Grade 2, and Grade 3, depending on the percentage of the large lymphocytes present. The vast majority of cases (70-95%) express the BCL-2 rearrangement [t(14;18)]. Histological grade correlates with prognosis. Grades 1 and 2 follicular lymphomas are indolent and grade 3 is more aggressive (adapted from WHO, 2001)." "SCTID:269476000 UMLS:C1334633 NCIT:C3457 MEDGEN:235305 DOID:706 ONCOTREE:MBN EFO:0000096 NCIT:C27910 ICD9:202.0 MONDO:0004949" "Quantification of chordin in a sample." "PMID:29875488" "An adipose dendritic cell that is SIRPa-positive." "A measurement of the survival rate for a group of individuals suffering from a disease." @@ -38203,7 +37901,7 @@ "Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." "ICD10:Q82.8" "Catalysis of the reaction: 4-N-(N-acetyl-D-glucosaminyl)-protein + H2O = N-acetyl-beta-D-glucosaminylamine + peptide L-aspartate. This reaction is the hydrolysis of an N4-(acetyl-beta-D-glucosaminyl)asparagine residue in which the N-acetyl-D-glucosamine residue may be further glycosylated, to yield a (substituted) N-acetyl-beta-D-glucosaminylamine and the peptide containing an aspartic residue." "EC:3.5.1.52 MetaCyc:3.5.1.52-RXN Reactome:R-HSA-8850594" "Quantification of DnaJ homolog subfamily B member 12 in a sample." "PMID:29875488" - "A long-chain fatty acid anion that is the conjugate base of myristic acid; major species at pH 7.3." "Gmelin:335122 Beilstein:3589340 Reaxys:3589340 KEGG:C06424" + "A long-chain fatty acid anion that is the conjugate base of myristic acid; major species at pH 7.3." "Gmelin:335122 Reaxys:3589340 KEGG:C06424" "Scott syndrome is a rare congenital bleeding disorder that is due to a defect in a platelet mechanism required for blood coagulation." "OMIM:262890 SNOMEDCT:128098009" "MEDGEN:1842349 GARD:20504 UMLS:C5680866 Orphanet:216972" @@ -38224,7 +37922,6 @@ "Quantification of some aspect of the use of antidepressant drugs." "PMID:31015401" "The amount of a dual specificity protein phosphatase 15 when measured in blood serum." "Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin." "UMLS:C1835884" - "A disorder characterized by signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction." "MONDO:0005542 UMLS:C0948089 MeSH:D054058 SNOMEDCT:394659003 MESH:D054058 MEDGEN:215295 NCIt:C53652 SCTID:394659003 MedDRA:10051592 NCIT:C53652" "A bacterial infectious process affecting the gums. It is characterized by the development of necrotic, ulcerated, and painful lesions with creation of pseudomembranes extending along the gingival margins." "MESH:D005892 MeSH:D005892 SCTID:186963008 SNOMEDCT:707792000 MONDO:0006865 MEDGEN:42219 UMLS:C0017575 NCIT:C34637 DOID:13924 ICD9:101 NCIt:C34637" "quantification of the amount of kallistatin in a sample" @@ -38235,8 +37932,8 @@ "Quantification of uridine diphosphate glucose levels in a sample." "PMID:23823483" "The amount of a glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 when measured in blood serum." - "Inflammation of the pancreas." "UMLS:C0030305 NCIT:C3306 SNOMEDCT:75694006 MONDO:0004982 MeSH:D010195 DOID:4989 NCIt:C3306 MEDGEN:14586 MedDRA:10033645 SCTID:75694006 MESH:D010195" - "A disease involving the pituitary gland." "MONDO:0003381 ICD9:253.8 ICD9:253.1 ICD9:253.9 MESH:D010900 NCIT:C26854 MEDGEN:45934 UMLS:C0032002 DOID:53 SCTID:399244003 ICD10:E23" + "Inflammation of the pancreas." "UMLS:C0030305 NCIT:C3306 SNOMEDCT:75694006 MONDO:0004982 MeSH:D010195 DOID:4989 SCTID:75694006 MEDGEN:14586 NCIt:C3306 MedDRA:10033645 MESH:D010195" + "A disease involving the pituitary gland." "MONDO:0003381 ICD9:253.8 ICD9:253.9 ICD9:253.1 MESH:D010900 NCIT:C26854 MEDGEN:45934 UMLS:C0032002 DOID:53 SCTID:399244003 ICD10:E23" "The amount of a carbohydrate sulfotransferase 10 when measured in blood serum." "An inherited metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance." "Orphanet:352456 MEDGEN:1826064 UMLS:C5679930 GARD:21520" @@ -38318,7 +38015,6 @@ "The upper leg bone positioned between the pelvis and the knee." "NCIt:C12717 BTO:0001284" "Quantification of phenylalanine--tRNA ligase, mitochondrial in a sample." "PMID:29875488" "A lateral meristem (PO:0020145) that has as part a single layer of cambial initial cells (PO:0000295) and their derivatives, arranged orderly in radial files." - "hemoglobin levels" "NCIt:C64848" "A rare congenital abnormality of the heart characterized by the presence of three atria. The right or left atrium is divided into two parts by fibromuscular tissue or a membrane. It may be associated with other heart congenital abnormalities." "SCTID:55510008 NCIT:C84651 NANDO:2100083 UMLS:C0009995 Orphanet:1463 MEDGEN:3238 NORD:1007 ICD9:746.82 GARD:6194 NANDO:2200263" "Strain of O. tipulae, isolated in 1991 by Carlos E. Winter in soil samples taken at the University of Sao Paulo in Brazil. Hermaphrodite strain. Adults are 1.5mm. The life cycle is a little longer than C. elegans at 22C. Each lays about 300 eggs in the three days following the moult from L4 to adult. Eggs are laid just after being fertilized resulting sometimes in plates with many eggs (much more than C. elegans). See Comp. Biochem. Physiol 103B: 189, 1992. See Nematology 2(1): 89-98, 2000. Can be grown and maintained on NGM. L1s easily frozen and stored in liquid nitrogen." @@ -38382,7 +38078,6 @@ "The weight of the individual's body fat." "The amount of a U8 snoRNA-decapping enzyme when measured in blood." "PMID:37794183" - "A carbohydrate metabolic disorder that is characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH)." "UMLS:C2939465 MeSH:D005955 MONDO:0005775 MEDGEN:473706 NCIT:C98933 MESH:D005955 SCTID:62403005 DOID:2862 NANDO:2200627" "A carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes." "ICDO:8402/3 GARD:0010439 EFO:1000295 NCIT:C54664 MONDO:0006245 UMLS:C0334344 MEDGEN:137746" "Mesenchyme that is part of a developing trunk." "EFO:0003485 ZFA:0000081 VHOG:0000281 EHDAA2:0002092 EMAPA:16177 TAO:0000081 EHDAA:377" "RNA-DNA SPRITE is a type of SPRITE experiment in which RNA in the cross-linked complexes is converted to cDNA before the initial splitting step, allowing analysis of RNA-DNA interactions." @@ -38446,8 +38141,7 @@ "Quantification of some aspect of Parkinson's disease symptoms such as their frequency, severity or ratio." "PMID:33987465" "The amount of a protein delta homolog 2 when measured in blood serum." "A variant of cervical squamous cell carcinoma characterized by the presence of keratin pearls. Intercellular bridges and cytoplasmic keratinization are usually present." "MEDGEN:309255 NCIT:C40187 UMLS:C1517658 DOID:7483" - "Infections with bacteria of the genus ACINETOBACTER." "DOID:3091 MeSH:D000151 UMLS:C0001139 MESH:D000151 MONDO:0006635 MEDGEN:1299" - "LOX-IMVI is one of the cell lines of the NCI-60 panel which represents different cancer types and has been widely utilized for drug screening and molecular target identification." "NCIt:C117181 RRID:CVCL_1381 BTO:0004151" + "LOX-IMVI is one of the cell lines of the NCI-60 panel which represents different cancer types and has been widely utilized for drug screening and molecular target identification." "RRID:CVCL_1381 NCIt:C117181 BTO:0004151" "This syndrome is characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis." "UMLS:C1855348 MESH:C565411 Orphanet:2172 GARD:3615 MEDGEN:343327 OMIM:248760" @@ -38546,7 +38240,6 @@ "Quantification of the amount of daidzein sulfate (2) in a sample." "PMID:35347128" "OMIM:619239 UMLS:C5543225 MEDGEN:1784023 GARD:18540" "Orphanet:217008 GARD:13063 MEDGEN:1843091 icd11.foundation:1659229633 UMLS:C5679814" - "A condition in which the hepatic venous outflow is obstructed anywhere from the small HEPATIC VEINS to the junction of the INFERIOR VENA CAVA and the RIGHT ATRIUM. Usually the blockage is extrahepatic and caused by blood clots (THROMBUS) or fibrous webs. Parenchymal FIBROSIS is uncommon." "MeSH:D006502 SNOMEDCT:82385007 ICD9:453.0 UMLS:C0019154 SCTID:38739001 MONDO:0006786 SNOMEDCT:38739001 MEDGEN:9217 MESH:D006502 SCTID:82385007 MedDRA:10006537 MedDRA:10019713 icd11.foundation:2131410813 DOID:11512 ICD10CM:I82.0" "human colon adenocarcinoma cell line established from a male" "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the jejunum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." "UMLS:C1334296 EFO:1000308 MONDO:0006257 MEDGEN:235235 NCIT:C6429" "Volume of subiculum region in hippocampus." @@ -38564,7 +38257,6 @@ "NANDO:2201209 GARD:20508 Orphanet:216986 MEDGEN:1826101 UMLS:C5680869 NANDO:1200065 icd11.foundation:77127214" "Quantification of the amount of X-11530 in a sample." "PMID:24816252" - "An opportunistic mycosis that has_material_basis_in Pneumocystis jirovecii, located_in lymph node, located_in spleen, located_in liver and located_in bone marrow, results_in_formation_of lesions." "DOID:11340 MEDGEN:163415 MeSH:D016720 UMLS:C0851886 MESH:D016720 MONDO:0005923" "A malignant neoplasm involving the lacrimal gland." "MEDGEN:56315 SCTID:127004000 UMLS:C0153627 NCIT:C3563 ICD9:239.89 DOID:294 ICD9:190.2" "Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis." "MEDGEN:5288 Orphanet:349 NANDO:1200130 NCIT:C61274 DOID:14500 SCTID:64716005 icd11.foundation:1470242510 NANDO:2200553 OMIM:230000 UMLS:C0016788 MESH:D005645 NORD:1168 ICD9:271.8 GARD:6473" "Quantification of the amount of 1,3-dimethylurate in a sample." "PMID:35347128" @@ -38683,7 +38375,7 @@ "A benign or malignant neoplasm that affects the wall of the ileum. Representative examples include adenoma, carcinoma, and lymphoma." "MONDO:0006801 UMLS:C0020876 NCIT:C3130 MESH:D007078 MEDGEN:43825 DOID:10156 SCTID:126835002 EFO:1000981" "Abnormal increase of resistance to blood flow within the hepatic PORTAL SYSTEM, frequently seen in LIVER CIRRHOSIS and conditions with obstruction of the PORTAL VEIN." "MESH:D006975 SNOMEDCT:34742003 NCIt:C3119 MedDRA:10036200 ICD9:572.3 NCIT:C3119 DOID:10762 UMLS:C0020541 MeSH:D006975 ICD10CM:K76.6 OMIM:617068 MONDO:0005080 SCTID:34742003 icd11.foundation:1506184775 MEDGEN:9375" - "An acute, febrile, infectious disease generally occurring in epidemics. It is usually caused by coxsackieviruses B and sometimes by coxsackieviruses A; echoviruses; or other enteroviruses." "SCTID:83264000 MeSH:D011000 MONDO:0005751 ICD10CM:B33.0 DOID:10882 MedDRA:10014978 MESH:D011000 MEDGEN:19355 ICD9:074.1 UMLS:C0032238" + "An acute, febrile, infectious disease generally occurring in epidemics. It is usually caused by coxsackieviruses B and sometimes by coxsackieviruses A; echoviruses; or other enteroviruses." "SCTID:83264000 MeSH:D011000 ICD10CM:B33.0 MONDO:0005751 DOID:10882 MedDRA:10014978 MESH:D011000 MEDGEN:19355 ICD9:074.1 UMLS:C0032238" "The internal and external reproductive organs in the female." "MA:0000381 ZFA:0000303 BTO:0000083 EV:0100110 TADS:0000352 FBbt:00004864 EHDAA:8116 EMAPA:17959 XAO:0000156 FMA:45663" @@ -38704,7 +38396,6 @@ "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an anticonvulsant stimulus, a drug used to prevent seizures or reduce their severity." "The amount of a regulation of nuclear pre-mRNA domain-containing protein 1A when measured in blood serum." "An artery that carries deoxygenated blood from heart to the lungs. They are the only arteries (other than umbilical arteries in the fetus) that carry deoxygenated blood.." "SCTID:181380003 XAO:0004162 EMAPA:17008 EHDAA2:0001575 FMA:66326 UMLS:C0034052 MA:0002031 VHOG:0000982 GAID:505 AAO:0010221 EFO:0001399 MESH:D011651 EHDAA:4351 NCIT:C12774 BTO:0000778 Wikipedia:Pulmonary_artery galen:PulmonaryArtery CALOHA:TS-0839" - "The pathologic narrowing of the orifice of the PULMONARY VALVE. This lesion restricts blood outflow from the RIGHT VENTRICLE to the PULMONARY ARTERY. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete." "DOID:6420 MEDGEN:18768 NANDO:2200304 icd11.foundation:611886666 MeSH:D011666 UMLS:C0034089 MedDRA:10037450 MESH:D011666 MONDO:0006936" "Congenital microcoria is a rare autosomal dominant ophthalmological disease caused by maldevelopment of the dilator muscle of the pupil that is characterized by small pupils (<2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma." "OMIM:156600 Orphanet:566 MEDGEN:227002 MESH:C537550 GARD:3635 UMLS:C1303009 SCTID:400962005" "Arthrogryposis-hyperkeratosis syndrome, lethal form is an arthrogryposis syndrome, described in two siblings to date, characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993." "GARD:3053 Orphanet:1485 MEDGEN:349230 OMIM:208158 SCTID:726620005 MESH:C535883 UMLS:C1859710" "Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes." "GARD:19333 SCTID:766239009 UMLS:C4707720 icd11.foundation:423779048 MEDGEN:1638411 Orphanet:96181" @@ -38763,7 +38454,7 @@ "Quantification of leucine-rich repeat neuronal protein 1 in a sample." "PMID:29875488" "The amount of a COMM domain-containing protein 10 when measured in blood serum." - "A 2-aminopurine carrying a 6-oxo substituent." "Wikipedia:Guanine KNApSAcK:C00001501 HMDB:HMDB0000132 Gmelin:431879 Beilstein:147911 KEGG:C00242 DrugBank:DB02377 PDBeChem:GUN PMID:22770225 CAS:73-40-5 PMID:8070089 Reaxys:147911 MetaCyc:GUANINE" + "A 2-aminopurine carrying a 6-oxo substituent." "KNApSAcK:C00001501 Reaxys:147911 PDBeChem:GUN KEGG:C00242 CAS:73-40-5 Gmelin:431879 DrugBank:DB02377 Wikipedia:Guanine PMID:8070089 PMID:22770225 HMDB:HMDB0000132 MetaCyc:GUANINE" "An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord." "Orphanet:641396 SNOMEDCT:10706006 MeSH:D016862 icd11.foundation:729372485 ICD9:013.20 UMLS:C0275904 ICD9:013.35 ICD9:013.2 MedDRA:10061391 ICD10:A17 SCTID:186217006 MeSH:D020306 MEDGEN:82907 DOID:1638 MONDO:0005696" @@ -38849,7 +38540,6 @@ "Quantification of the presence or absence of the CFTR mutation in an individual." "PMID:35647563" "Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane." "DOID:0060673 MedDRA:10059202 SCTID:204153003 ICD9:743.44 MESH:C537884 DOID:0080610 UMLS:C0344559 OMIM:604229 Orphanet:708 icd11.foundation:1902926622 GARD:7377 HP:0000659 MEDGEN:91031" - "A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (CORONARY ARTERY DISEASE), to obstruction by a thrombus (CORONARY THROMBOSIS), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (MYOCARDIAL INFARCTION)." "NCIT:C50625 MeSH:D017202 MEDGEN:101801 UMLS:C0151744 MedDRA:10028601 DOID:3394 MONDO:0024644 ICD10CM:I20-I25 SNOMEDCT:414795007 NANDO:2100070 MESH:D017202 SCTID:414545008" "The amount of a histone-lysine N-methyltransferase SETD2 when measured in blood serum." "An endocrine disorder characterized by excessive production of aldosterone by the adrenal glands. Causes include adrenal gland adenoma and adrenal gland hyperplasia. The overproduction of aldosterone results in sodium and water retention and hypokalemia. Patients present with high blood pressure, muscle weakness, and headache." "ICD9:255.12 SCTID:190507007 MESH:D006929 MEDGEN:278002 ICD10CM:E26.0 NCIT:C34510 UMLS:C1384514 DOID:12028 NANDO:2200361" @@ -38892,7 +38582,7 @@ "Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations." "ICD10:Q87.8 OMIM:608978" "An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone." "UMLS:C0011989 ICD10:Q78.3 OMIM:131300 MeSH:D003966 DOID:4997" "Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported." "GARD:20920 MEDGEN:167072 MESH:C538019 Orphanet:264450 UMLS:C0795825" - "An adenosine 5'-phosphate in which the 5'-phosphate is a triphosphate group. It is involved in the transportation of chemical energy during metabolic pathways." "Wikipedia:Adenosine_triphosphate Beilstein:73010 CAS:56-65-5 DrugBank:DB00171 PDBeChem:ATP KNApSAcK:C00001491 HMDB:HMDB0000538 Patent:US3079379 KEGG:D08646 Drug_Central:91 KEGG:C00002 Reaxys:73010 Gmelin:34857" + "An adenosine 5'-phosphate in which the 5'-phosphate is a triphosphate group. It is involved in the transportation of chemical energy during metabolic pathways." "KNApSAcK:C00001491 Drug_Central:91 PDBeChem:ATP Patent:US3079379 HMDB:HMDB0000538 Reaxys:73010 KEGG:C00002 DrugBank:DB00171 CAS:56-65-5 Wikipedia:Adenosine_triphosphate KEGG:D08646 Gmelin:34857" "The amount of a cytosolic 5'-nucleotidase 1A when measured in blood." "PMID:37794183" @@ -38977,6 +38667,7 @@ "Early stage diabetic retinopathy, characterized by the absence of neovascularisation of the retina." "MedDRA:10054109" "Liver, hepatoma; Morris hepatoma 7777 cell line, established from a rattus norvegicus female." "BTO:0000358 CLO:0007595 RRID:CVCL_0444 CLO:0007594" "The amount of a charged multivesicular body protein 4a when measured in blood serum." + "A specimen that has been frozen in order to store it."@en "NCIt:C70717" "A specimen that has been frozen in order to store it." "NCIt:C70717" "OMIM:618761 UMLS:C5231492 MEDGEN:1684686" "Female reproductive organ." "EHDAA:8124 TADS:0000400 FBbt:00004865 MA:0000384 AAO:0000371 EMAPA:17962 FMA:7209 ZFA:0000403 XAO:0000258 TAO:0000403 EV:0100111 SAEL:76 MeSH:D010053 MAT:0000125 NCIt:C12404" @@ -39121,7 +38812,7 @@ "The amount of a glucose-fructose oxidoreductase domain-containing protein 2 when measured in blood." "PMID:37794183" "A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation." "UMLS:C1847879" - "A yeast infection usually manifested as a superficial skin infection. It may also present as a systemic infection in patients who are receiving total parenteral nutrition." "NCIT:C82981 UMLS:C0040262 MONDO:0005915 MESH:D014010 ICD9:111.0 icd11.foundation:67108853 SCTID:56454009 MEDGEN:11826 DOID:9060 ICD10CM:B36.0 MedDRA:10035117 MeSH:D014010" + "A yeast infection usually manifested as a superficial skin infection. It may also present as a systemic infection in patients who are receiving total parenteral nutrition." "ICD9:111.0 MeSH:D014010 MEDGEN:11826 DOID:9060 MONDO:0005915 SCTID:56454009 NCIT:C82981 ICD10CM:B36.0 icd11.foundation:67108853 MESH:D014010 MedDRA:10035117 UMLS:C0040262" "The result of a measurement of circulating antibodies specific to an enterobacter phage virus antigen." "PMID:37164013" "A headache disorder characterized by episodes of unilateral, short lasting pain and associated ipsilateral cranial autonomic symptoms." "ICD9:339.09 MESH:D051303 MEDGEN:327950 GARD:20017 UMLS:C1565172 Orphanet:157843 icd11.foundation:607078588 SCTID:449814007 NCIT:C117074" @@ -39133,10 +38824,8 @@ "The amount of a ribonuclease K6 when measured in blood serum." "UMLS:C5681106 OMIMPS:223360 MEDGEN:1842591 Orphanet:448426 GARD:21878" "NCIt:C14252 MeSH:D048530" - "Chronic inflammatory disease of the BILIARY TRACT. It is characterized by fibrosis and hardening of the intrahepatic and extrahepatic biliary ductal systems leading to bile duct strictures, CHOLESTASIS, and eventual BILIARY CIRRHOSIS." "MEDGEN:3036 NCIt:C4828 UMLS:C0008313 SNOMEDCT:235917005 GARD:21868 MedDRA:10039717 Orphanet:447771 OMIM:617394 HP:0030991 NANDO:2100265 NCIT:C4828 MeSH:D015209 NANDO:1200440 SCTID:235917005 DOID:14268 MONDO:0018646" "A form of glaucoma in which chronic optic nerve damage and loss of vision normally attributable to buildup of intraocular pressure occurs despite prevailing conditions of normal intraocular pressure." "DOID:13544 MeSH:D057066 UMLS:C0152136 SNOMEDCT:50485007 ICD9:365.12 MEDGEN:56263 MESH:D057066 MedDRA:10024931 SCTID:50485007 MONDO:0006837" "OMIM:601163 ICD10:Q87.8" - "A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary and testis." "EFO:0007483 NCIT:C3794 MONDO:0006055 NANDO:2200072 DOID:192 MEDGEN:104926 UMLS:C1515289 MeSH:D018312 EFO:1000052 ICDO:8590/1 UMLS:C0206724" "Quantification of the amount of X-21658 in a sample." "PMID:35050183" "Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age." "MEDGEN:232602 OMIMPS:120435 NCIT:C120083 SCTID:315058005 Orphanet:443909 UMLS:C1333990" @@ -39227,7 +38916,6 @@ "A common, self-limiting thyroid disorder seen in preterm infants that is characterized by abnormally low serum levels of thyroxine and free thyroxine with normal serum levels of thyroid stimulating hormone." "NCIT:C113171 UMLS:C3827793 MEDGEN:820541 Orphanet:178045 SCTID:119181000119104 icd11.foundation:592246939 GARD:20142" "The amount of a mitogen-activated protein kinase kinase kinase 5 when measured in blood." "PMID:37794183" "Human embryonic stem cell line with a normal 46XY karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." - "The assemblage of physical properties or qualities by which male is distinguished from female; the physical difference between male and female; the distinguishing peculiarity of male or female." "MO:680 NCIt:C28421 MeSH:D012723 PATO:0000047" "Quantification of stathmin-3 in a sample." "PMID:29875488" "Urocortin is a protein that in humans is encoded by the UCN gene.[1][2][3] This gene is a member of the sauvagine/corticotropin-releasing factor/urotensin I family. It is structurally related to the corticotropin-releasing factor (CRF) gene and the encoded product is an endogenous ligand for CRF type 2 receptors. In the brain, it may be responsible for the effects of stress on appetite. In spite of the gene family name similarity, the product of this gene has no sequence similarity to urotensin II.[3] Urocortin is a potent anorexigenic peptide of 40 amino acids that induces fed-like motor activity when administered centrally or peripherally in fasted animals. Urocortin belongs to the corticotropin-releasing factor (CRF) family that includes CRF, urotensin I, sauvagine, urocortin II and urocortin III. Urocortin is also a potent and long-lasting hypotensive agent and increases coronary blood flow." @@ -39259,7 +38947,6 @@ "OMIM:300835 Orphanet:363727 MEDGEN:763770 UMLS:C3550856 DOID:0112156 GARD:17574" "The amount of a hydroxymethylglutaryl-CoA lyase, mitochondrial when measured in blood serum." "An organismal quality inhering in a bearer by virtue of the bearer's physical expression of sexual characteristics." "MO:680 NCIt:C28421 MeSH:D012723 PATO:0000047" - "A chronic systemic infection by a gram-positive bacterium, Tropheryma whippelii, mainly affecting the SMALL INTESTINE but also the JOINTS; CARDIOVASCULAR SYSTEM; and the CENTRAL NERVOUS SYSTEM. The disease is characterized by fat deposits in the INTESTINAL MUCOSA and LYMPH NODES, malabsorption, DIARRHEA with fatty stools, MALNUTRITION, and ARTHRITIS." "MESH:D008061 NCIT:C85228 SNOMEDCT:41545003 UMLS:C0023788 NCIt:C85228 SCTID:41545003 DOID:8476 GARD:7889 ICD10EXP:M14.8* MeSH:D008061 ICD9:040.2 ICD10EXP:K90.8+ icd11.foundation:1131038233 ICD10CM:K90.81 MEDGEN:7347 MONDO:0005116 NORD:1850 Orphanet:3452 MedDRA:10047931" "The amount of a voltage-dependent calcium channel beta subunit-associated regulatory protein when measured in blood serum." @@ -39272,7 +38959,7 @@ "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the TCF4 gene." "GARD:18218 UMLS:C2750451 MEDGEN:442479 OMIM:613267 MESH:C567678" "An abnormally increased tendency towards muscle fatigue induced by physical exercise." "UMLS:C1855580" "Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia)." "GARD:10629 MEDGEN:435975 MESH:C567128 icd11.foundation:897226700 SCTID:718765003 OMIM:611717 DOID:0112287 UMLS:C2673649 Orphanet:163654" - "A butenedioic acid in which the C=C double bond has E geometry. It is an intermediate metabolite in the citric acid cycle." "MetaCyc:FUM PDBeChem:FUM KEGG:C00122 PMID:22113915 Gmelin:49855 KEGG:D02308 HMDB:HMDB0000134 CAS:110-17-8 PMID:17439666 PPDB:1347 PMID:22217732 FooDB:FDB003291 PMID:23472183 PMID:21414846 Drug_Central:3229 DrugBank:DB01677 PMID:22516248 KNApSAcK:C00001183 Beilstein:605763 Reaxys:605763 Wikipedia:Fumaric_Acid" + "A butenedioic acid in which the C=C double bond has E geometry. It is an intermediate metabolite in the citric acid cycle." "MetaCyc:FUM PDBeChem:FUM KEGG:C00122 PMID:22113915 Gmelin:49855 KEGG:D02308 HMDB:HMDB0000134 CAS:110-17-8 PMID:17439666 PPDB:1347 PMID:22217732 FooDB:FDB003291 PMID:23472183 PMID:21414846 Drug_Central:3229 DrugBank:DB01677 PMID:22516248 KNApSAcK:C00001183 Reaxys:605763 Wikipedia:Fumaric_Acid" "The amount of a keratin, type I cytoskeletal 17 when measured in blood serum." "That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage." @@ -39409,7 +39096,7 @@ "OBSOLETE. Benign familial mesial temporal lobe epilepsy is a rare epilepsy characterized by seizures with viscerosensory or experential auras, onset in adolescence or early adulthood and good prognosis. It is defined as at least 24 months of seizure freedom with or without antiepileptic medication." "Orphanet:163717" "Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control." "UMLS:C4020884 SNOMEDCT_US:48694002 UMLS:C0003467" "Heligmosomoides polygyrus, previously named Nematospiroides dubius, is a naturally occurring intestinal roundworm of rodents. It belongs to the family Trychostrongylidae, and male and female worms are morphologically distinguishable. The parasite has a direct life cycle with its larval form being the infective stage. H. polygyrus has the ability to establish chronic infections in rodents and alter host immune responses. This nematode is widely used as a gastrointestinal parasitic model in immunological, pharmacological and toxicological studies." "Wikipedia:Heligmosomoides_polygyrus GC_ID:1" - "A butenolide that is furan-2(5H)-one substituted by a phenyl group at position 3 and by a p-(methylsulfonyl)phenyl group at position 4. A selective cyclooxygenase 2 inhibitor, it was used from 1999 to 2004 for the treatment of ostoarthritis, but was withdrawn following concerns about an associated increased risk of heart attack and stroke." "MeSH:C116926 Beilstein:8269007 Drug_Central:2397 PMID:16934051 SNOMEDCT:387008005 PMID:10859630 PMID:11014111 DrugBank:DB00533 Reaxys:8269007 LINCS:LSM-2482 Wikipedia:Rofecoxib CAS:162011-90-7 PMID:20162413 SNOMEDCT:116095002 PMID:28166217 KEGG:D00568 NCIt:C1832 KEGG:C07590 PMID:12069696" + "A butenolide that is furan-2(5H)-one substituted by a phenyl group at position 3 and by a p-(methylsulfonyl)phenyl group at position 4. A selective cyclooxygenase 2 inhibitor, it was used from 1999 to 2004 for the treatment of ostoarthritis, but was withdrawn following concerns about an associated increased risk of heart attack and stroke." "MeSH:C116926 Drug_Central:2397 PMID:16934051 SNOMEDCT:387008005 PMID:10859630 PMID:11014111 DrugBank:DB00533 Reaxys:8269007 LINCS:LSM-2482 Wikipedia:Rofecoxib CAS:162011-90-7 PMID:20162413 SNOMEDCT:116095002 PMID:28166217 KEGG:D00568 NCIt:C1832 KEGG:C07590 PMID:12069696" "ZFA:0001370" @@ -39435,7 +39122,7 @@ "ICD10:Q82.2 OMIM:248910" "A mesenchymal chondrosarcoma occurring in children." "MEDGEN:232063 UMLS:C1332982 NCIT:C27374 DOID:4546" - "A pyridinedicarboxylic acid that is pyridine substituted by carboxy groups at positions 2 and 3. It is a metabolite of tryptophan." "Wikipedia:Quinolinic_acid Beilstein:137110 PMID:16008534 PMID:11462760 HMDB:HMDB0000232 CAS:89-00-9 PDBeChem:NTM PMID:11226705 DrugBank:DB01796 KNApSAcK:C00007381 KEGG:C03722 Gmelin:201344 Reaxys:137110 PMID:8724297" + "A pyridinedicarboxylic acid that is pyridine substituted by carboxy groups at positions 2 and 3. It is a metabolite of tryptophan." "Wikipedia:Quinolinic_acid PMID:16008534 PMID:11462760 HMDB:HMDB0000232 CAS:89-00-9 PDBeChem:NTM PMID:11226705 DrugBank:DB01796 KNApSAcK:C00007381 KEGG:C03722 Gmelin:201344 Reaxys:137110 PMID:8724297" "The amount of a glutathione hydrolase 1 proenzyme when measured in blood." "PMID:37794183" "The floral organ that produces pollen; consisting of an anther and filament." "BTO:0001559 ZEA:0015134 MAT:0000515 PO:0009029 NCIt:C79675" "Single-cell mRNA3-prime end sequencing followed by 3-prime-end enrichment" "PMID:25722368" @@ -39460,6 +39147,7 @@ "The amount of a uridine phosphorylase 2 when measured in blood serum." "A rare malignant neoplasm with melanocytic differentiation characterized by the presence of polygonal or spindle shaped clear cells. This sarcoma usually affects the tendons and aponeuroses and is associated with a poor prognosis due to recurrences and metastases." "NANDO:2200062 ICDO:9044/3 ONCOTREE:CCS MONDO:0002926 DOID:4233 ICD9:171.9 EFO:0008498 https://doi.org/10.1016/j.ijscr.2017.05.034 UMLS:C0206651 NCIT:C3745 MEDGEN:104909 SCTID:402561003 MESH:D018227" + "A DNA sequencer is an instrument that determines the order of deoxynucleotides in deoxyribonucleic acid sequences."@en "MO:676" "A DNA sequencer is an instrument that determines the order of deoxynucleotides in deoxyribonucleic acid sequences." "MO:676" "Formation of stones in the KIDNEY." "MeSH:D053040 MeSH:D007669 MONDO:0008171 MedDRA:10023437 OMIM:605990 SNOMEDCT:95570007 MedDRA:10029148 MEDGEN:98227 MESH:D053040 MedDRA:10023436 OMIM:167030 ICD9:592 UMLS:C0392525 ICD10:N20 DOID:585 NCIt:C114667 SCTID:266556005 NCIT:C114667" "Quantification of sulfadimethoxine sodium in blood plasma." "KEGG COMPOUND:C18386" @@ -39499,7 +39187,6 @@ "The amount of a ubiquitin carboxyl-terminal hydrolase 12 when measured in blood serum." "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an iloperidone stimulus." - "A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Campylobacter jejuni, which is transmitted_by ingestion of contaminated food or water or transmitted_by contact with infected people or animals. The infection has_symptom diarrhea or has_symptom dysentery, has_symptom abdominal cramps and pain, and has_symptom fever." "MONDO:0005688 icd11.foundation:1012026026 SCTID:86500004 UMLS:C0006818 DOID:13622 MEDGEN:14296 MeSH:D002169 MESH:D002169" "The amount of a coiled-coil domain-containing protein 115 when measured in blood serum." "The amount of a bis(5'-nucleosyl)-tetraphosphatase [asymmetrical] when measured in blood serum." @@ -39580,10 +39267,8 @@ "The amount of a NF-kappa-B inhibitor beta when measured in blood serum." "Quantification of N-acetyltaurine levels in a sample." "PMID:27520321" "Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction." "DOID:9574 MESH:D002754 MEDGEN:3395 OMIM:608911 SCTID:204508009 icd11.foundation:2099486655 Orphanet:137914 MedDRA:10008587 ICD9:748.0 ICD10CM:Q30.0 UMLS:C0008297 GARD:16951" - "Inflammation of the COLON that is predominantly confined to the MUCOSA. Its major symptoms include DIARRHEA, rectal BLEEDING, the passage of MUCUS, and ABDOMINAL PAIN." "HP:0100279 MedDRA:10045365 SNOMEDCT:64766004 ICD9:556.8 MESH:D003093 icd11.foundation:784669405 Orphanet:771 NCIT:C2952 MeSH:D003093 SCTID:64766004 MEDGEN:3532 OMIM:266600 ICD9:556.5 ICD9:556.9 DOID:8577 NCIt:C2952 NANDO:1200449 MONDO:0005101 MedDRA:10045366 NANDO:2200920 ICD9:556 ICD10:K51 UMLS:C0009324" "The amount of a Rho-related GTP-binding protein RhoC when measured in blood." "PMID:37794183" - "Disease of the TIBIAL NERVE (also referred to as the posterior tibial nerve). The most commonly associated condition is the TARSAL TUNNEL SYNDROME. However, LEG INJURIES; ISCHEMIA; and inflammatory conditions (e.g., COLLAGEN DISEASES) may also affect the nerve. Clinical features include PARALYSIS of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32)" "UMLS:C0751932 MEDGEN:148422 MONDO:0006997 SCTID:399076001 DOID:1187 MeSH:D020429 SNOMEDCT:399076001 MESH:D020429" "Orphanet:79380 UMLS:C5681484 MEDGEN:1842502" "The amount of a myosin light chain 5 when measured in blood serum." "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" @@ -39615,7 +39300,6 @@ "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" "SNOMEDCT:258806002" "Quantification of minosaminomycin in blood plasma." "KEGG COMPOUND:C17969" - "A disorder affecting the urinary bladder" "MONDO:0006026 ICD9:596.9 NCIt:C2900 MEDGEN:2278 ICD10:N32 DOID:365 UMLS:C0005686 MESH:D001745 ICD9:596.8 NCIT:C2900 SCTID:42643001" "a hornlike skin condition not inherited at birth, but acquired later in the life" "MEDGEN:44016 SCTID:400166009 UMLS:C0022581 NCIT:C34746 ICD9:701.1 DOID:13072 MONDO:0006522" "Orphanet:139039" "Quantification of the amount of 2-ketocaprylate in a sample." "PMID:35347128" @@ -39644,7 +39328,7 @@ "Hypomelanosis of Ito (HI) is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines." "UMLS:C0022283 ICD10:Q87.8 OMIM:300337" "Organ consisting of skeletal tissue. Encompasses whole bones, fused bones, cartilaginious elements, teeth, dermal denticles." "XAO:0004012 galen:SkeletalStructure AAO:0011129 ZFA:0005494 TAO:0001890 VSAO:0000128" - "A phenothiazine derivative having a methylsulfanyl subsitituent at the 2-position and a (1-methylpiperidin-2-yl)ethyl] group at the N-10 position." "SNOMEDCT:372706001 PMID:10796547 MeSH:D013881 Beilstein:94457 CAS:50-52-2 LINCS:LSM-1863 PMID:27023487 SNOMEDCT:33588000 DrugBank:DB00679 PMID:11686961 Wikipedia:Thioridazine Reaxys:94457 PMID:9352572 PMID:27068340 KEGG:D00373 PMID:1650428 PMID:26956010 PMID:19747949 PMID:17764469 HMDB:HMDB0014817 PMID:20825390 PMID:17876580 NCIt:C61971 Drug_Central:2637" + "A phenothiazine derivative having a methylsulfanyl subsitituent at the 2-position and a (1-methylpiperidin-2-yl)ethyl] group at the N-10 position." "SNOMEDCT:372706001 PMID:10796547 MeSH:D013881 CAS:50-52-2 LINCS:LSM-1863 PMID:27023487 SNOMEDCT:33588000 DrugBank:DB00679 PMID:11686961 Wikipedia:Thioridazine Reaxys:94457 PMID:9352572 PMID:27068340 KEGG:D00373 PMID:1650428 PMID:26956010 PMID:19747949 PMID:17764469 HMDB:HMDB0014817 PMID:20825390 PMID:17876580 NCIt:C61971 Drug_Central:2637" "A differential expression analysis data transformation is a data transformation that has an objective of differential expression analysis. Frequently this data transformation involves summarizing or otherwise aggregating signals from various samples categorized into groups, and calculating measures of group differences from these aggregated signals."@en "Measurement of rate of airflow over the middle half of a FORCED VITAL CAPACITY determination (from the 25 percent level to the 75 percent level). Common abbreviations are MMFR and FEF 25%-75%." "MeSH:D008450" "Orphanet:309279 GARD:10670 UMLS:C5681075 MEDGEN:1842769 icd11.foundation:979972142" @@ -39715,6 +39399,7 @@ "The amount of a cullin-4B when measured in blood serum." "The amount of a Phosphatidylcholine (20:4_0:0) when measured in blood serum." "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" + "An instrument which removes liquid by the application of negative pressure, i.e. vacuum."@en "MO:696" "An instrument which removes liquid by the application of negative pressure, i.e. vacuum." "MO:696" "An abnormality of the male internal genitalia." "ICD10:R86 UMLS:C4025899 ICD10:Q55" "Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures." "OMIM:256040 ICD10:L98.8" @@ -39903,7 +39588,7 @@ "Circumscribed collections of suppurative material occurring in the spinal or intracranial epidural space. The majority of epidural abscesses occur in the spinal canal and are associated with osteomyelitis of a vertebral body; analgesia, epidural; and other conditions. Clinical manifestations include local and radicular pain, weakness, sensory loss, urinary incontinence, and fecal incontinence. Cranial epidural abscesses are usually associated with osteomyelitis of a cranial bone, sinusitis, or otitis media. (From Adams et al., Principles of Neurology, 6th ed, p710 and pp1240-1; J Neurol Neurosurg Psychiatry 1998 Aug;65(2):209-12)" "EFO:0007260 SCTID:61974008 MEDGEN:82848 MESH:D020802 DOID:11387 UMLS:C0270629 MONDO:0005752" "A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has material basis in Human T-lymphotropic virus 1, which is transmitted by sexual contact, transmitted by contaminated needles used by intravenous-drug users, and transmitted by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder." "MESH:D015490 MONDO:0005801 UMLS:C0020097 DOID:323 MeSH:D015490 MEDGEN:6919" - "A diffuse or multifocal peripheral neuropathy caused by the effects of a distant neoplasm. It may be attributed, in part, to the immune response to neoplasm-elaborated proteins. The neuropathy may be sensory, motor, mixed or autonomic. It may be the initial presentation of an occult neoplasm. Detection and resection of the neoplasm may result in cure." "NCIt:C3981 MESH:D020364 DOID:8681 MEDGEN:124380 MedDRA:10062289 MeSH:D020364 UMLS:C0270932 NCIT:C3981 SCTID:77659000 MONDO:0006888 ICD9:357.3" + "A diffuse or multifocal peripheral neuropathy caused by the effects of a distant neoplasm. It may be attributed, in part, to the immune response to neoplasm-elaborated proteins. The neuropathy may be sensory, motor, mixed or autonomic. It may be the initial presentation of an occult neoplasm. Detection and resection of the neoplasm may result in cure." "ICD9:357.3 NCIt:C3981 MESH:D020364 DOID:8681 MEDGEN:124380 MedDRA:10062289 MeSH:D020364 UMLS:C0270932 NCIT:C3981 SCTID:77659000 MONDO:0006888" "The external membrane of Gram-negative bacteria or certain organelles such as mitochondria and chloroplasts; freely permeable to most ions and metabolites." "An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include CONFUSION; DELUSIONS; vivid HALLUCINATIONS; TREMOR; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175)" "MedDRA:10001610 ICD9:291.0 DOID:8639 SNOMEDCT:8635005 SCTID:8635005 MESH:D000430 MeSH:D000430 MONDO:0006642 UMLS:C0001957 MEDGEN:1398" "The scalar number of injections administered to a material or organism." @@ -39993,7 +39678,6 @@ "Quantification of thioredoxin in a sample." "PMID:29875488" "PMID:38354877 DrugBank:DB03680 PDBeChem:TTN Gmelin:325483" "An osteosarcoma arising from the mediastinum." "NCIT:C6615 UMLS:C1334675 DOID:6208 MEDGEN:235314" - "A mycoplasmal pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat." "ICD9:483.0 MESH:D011019 MEDGEN:19363 UMLS:C0032302 MedDRA:10028472 NCIT:C122526 DOID:13276 MeSH:D011019 MONDO:0005867 SCTID:46970008" "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of liver a transplant." "PMID:33445220" "Quantification of the amount of 1-(1-enyl-palmitoyl)-2-docosahexaenoyl-GPE (P-16:0/22:6) in a sample." "PMID:35347128" "A malignant vascular neoplasm arising from the skin." "MEDGEN:87535 SCTID:254794007 UMLS:C0346081 DOID:4517 NCIT:C4489" @@ -40023,7 +39707,6 @@ "A 1,2-diacyl-sn-glycero-3-phosphoethanolamine in which the acyl substituent both at positions 1 and 2 is specified as (9Z,12Z)-octadecadienoyl respectively." "LIPID_MAPS_instance:LMGP02010111 HMDB:HMDB0009093" "Quantification of uncharacterized protein C3orf18 in a sample." "PMID:29875488" - "A derived unit which is a standard measure of the amount of a 2-dimensional flat surface." "The series of events that restore integrity to a damaged tissue, following an injury." "Wikipedia:Wound_healing MeSH:D014945" "Quantification of the amount of stearate 18:0 in a sample." "PMID:24816252" @@ -40071,14 +39754,13 @@ "An extremely rare adenosarcoma that arises from the uterine ligament." "NCIT:C102570" "A complex autosomal dominant immunologic disorder characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease. One of the more common features is inflammation of the stomach and bowel. Most patients develop symptoms in infancy or early childhood; the severity is variable. There may be accompanying fever, elevated white blood cell count, decreased B cells, hypogammaglobulinemia, increased C-reactive protein (CRP), and a generalized hyperinflammatory state. Immunologic workup shows variable B- and T-cell abnormalities such as skewed subgroups. Patients have a propensity for the development of lymphoma, usually in adulthood. At the molecular level, the disorder results from a gain-of-function mutation that leads to constitutive and enhanced activation of the intracellular inflammatory signaling pathway." "OMIM:619381 UMLS:C5543581 MEDGEN:1781752" - "A quinolinemonocarboxylic acid that is quinoline-2-carboxylic acid substituted by a hydroxy group at C-4." "PMID:19523966 PMID:15206728 PMID:16416446 KNApSAcK:C00026494 PMID:11452979 Reaxys:147451 LINCS:LSM-24962 PMID:16388784 PMID:18235993 PMID:10881031 PMID:18836681 PMID:14724046 CAS:492-27-3 PMID:8579218 PMID:22108572 PMID:19815960 KNApSAcK:C00026453 PMID:11982504 KEGG:C01717 Beilstein:147451 PMID:19187269 PMID:7882580 PMID:10088651 PMID:11521749 PMID:18231708 PMID:8637415 PMID:16920787 PMID:22915278 PMID:16644124 PMID:17959203 PMID:17023091 PMID:15961072 PMID:11129102 PMID:16845213 PMID:16888405 PMID:15364012 PMID:15605380 PMID:16603336 HMDB:HMDB0000715 PMID:15517427 PMID:23030614 PMID:19816853 PMID:17573079 PMID:12503245 PMID:22065206 PMID:12926536 PMID:18950711 PMID:10867830 PMID:11051465 Wikipedia:Kynurenic_acid PMID:18346850 PDBeChem:KYA PMID:11244357 PMID:9078543 PMID:11334243 PMID:16088227 PMID:17364732 PMID:16220290 MetaCyc:KYNURENATE PMID:12757473 PMID:22814028 PMID:22732505 PMID:18462830 PMID:16457470 PMID:11191832 PMID:14770276 PMID:22770225 PMID:22224417 PMID:19616570" + "A quinolinemonocarboxylic acid that is quinoline-2-carboxylic acid substituted by a hydroxy group at C-4." "PMID:19523966 PMID:15206728 PMID:16416446 KNApSAcK:C00026494 PMID:11452979 Reaxys:147451 LINCS:LSM-24962 PMID:16388784 PMID:18235993 PMID:10881031 PMID:18836681 PMID:14724046 CAS:492-27-3 PMID:8579218 PMID:22108572 PMID:19815960 KNApSAcK:C00026453 PMID:11982504 KEGG:C01717 PMID:19187269 PMID:7882580 PMID:10088651 PMID:11521749 PMID:18231708 PMID:8637415 PMID:16920787 PMID:22915278 PMID:16644124 PMID:17959203 PMID:17023091 PMID:15961072 PMID:11129102 PMID:16845213 PMID:16888405 PMID:15364012 PMID:15605380 PMID:16603336 HMDB:HMDB0000715 PMID:15517427 PMID:23030614 PMID:19816853 PMID:17573079 PMID:12503245 PMID:22065206 PMID:12926536 PMID:18950711 PMID:10867830 PMID:11051465 Wikipedia:Kynurenic_acid PMID:18346850 PDBeChem:KYA PMID:11244357 PMID:9078543 PMID:11334243 PMID:16088227 PMID:17364732 PMID:16220290 MetaCyc:KYNURENATE PMID:12757473 PMID:22814028 PMID:22732505 PMID:18462830 PMID:16457470 PMID:11191832 PMID:14770276 PMID:22770225 PMID:22224417 PMID:19616570" "Is a diet designed to prevent and control high blood pressure. It promotes consumption of fruits, vegetables, whole grains, nuts, legumes, lean meat, fish, poultry and low-fat dairy products, and the inclusion of micronutrients and the reduction of sodium in the diet to about 1500 mg/day. It is limited in sugar-sweetened foods and beverages, red meat, and added fats." "Reduction in the number of lymphocytes." "MESH:D008231 ICD9:288.51 icd11.foundation:298296736 HP:0001888 MEDGEN:7418 UMLS:C0024312 ICD9:288.8 ICD10CM:D72.810 DOID:614 SCTID:48813009" "A rare, mitochondrial DNA maintenance syndrome characterized by cerebellar ataxia, sensory peripheral neuropathy, myoclonus, epilepsy, progressive cognitive impairment, late-onset ptosis and external ophthalmoplegia. Liver failure may also occur, most often in association with the use of antiepileptic drug sodium valproate." "icd11.foundation:1238648682 MESH:C564395 UMLS:C1843852 MEDGEN:334510 GARD:17229 Orphanet:254881" "ICD10:D81.1 OMIM:601457" "ICD10:Q87.1" - "An encephalomyelitis characterized by inflammation located_in brain and located_in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection." "SCTID:83942000 MEDGEN:4033 MedDRA:10000709 MeSH:D004673 MONDO:0019383 NCIT:C34578 UMLS:C0014059 icd11.foundation:1390433308 DOID:639 Orphanet:83597 GARD:8639 NORD:727 MESH:D004673 ICD9:136.9" "Orphanet:79367" "Excessive shedding of dry scaly material from the scalp in humans." "DOID:8941 MedDRA:10039790 ICD9:690.11 SCTID:400201008 MedDRA:10057062 MONDO:0006609" @@ -40101,7 +39783,6 @@ "A group of myopathies that includes Emery-Dreifuss muscular dystrophy (EDMD), and two allelic disorders characterized by the presence of reducing body on histopathology, namely reducing body myopathy (RBM) and scapuloperoneal myopathy." "ICD10:Q73.8 MeSH:C535687 MedDRA:10084326 OMIM:268300 UMLS:C0392475 OMIM:269000" "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" - "a type of skin inflammation (dermatitis) that results from exposure to allergens (allergic contact dermatitis) or irritants (irritant contact dermatitis)" "MedDRA:10010790 ICD9:692.9 DOID:2773 MEDGEN:8329 MESH:D003877 NCIT:C26743 MedDRA:10012442 ICD10:L25 ICD9:692.89 UMLS:C0011616 MONDO:0005480 NCIt:C26743 SCTID:40275004 SNOMEDCT:40275004" "A rare genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guerin (BCG)." "MEDGEN:814919 UMLS:C3808589 Orphanet:319600 DOID:0111986 OMIM:614893" "A benign condition characterized by the development of irregular patches in the surface of the tongue resulting in a map-like appearance. The patches migrate from day to day and usually resolve without treatment." "MedDRA:10018201 NCIT:C84588 DOID:1455 MeSH:D005929 ICD10CM:K14.1 MONDO:0005771 ICD9:529.1 SCTID:59032001 UMLS:C0017677 MEDGEN:6619 icd11.foundation:1460387786" @@ -40197,7 +39878,7 @@ "Quantification of the amount of X-21959 in a sample." "PMID:35347128" "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature." "NANDO:1200107 icd11.foundation:1479415032 NCIT:C84902 OMIM:253010 NANDO:2201179 Orphanet:309310 MEDGEN:43376 UMLS:C0086652 DOID:0111392 GARD:3786 SCTID:238044004" "Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes." "MESH:C537036 UMLS:C1838328 MEDGEN:325001 GARD:296 Orphanet:2832 SCTID:721075001 OMIM:600269" - "The female muscular organ of gestation in which the developing embryo or fetus is nourished until birth." "EMAPA:29915 galen:Uterus FMA:17558 Wikipedia:Uterus EFO:0000975 MAT:0000127 MIAA:0000127 NCIT:C12405 EV:0100113 BTO:0001424 UMLS:C0042149 MA:0000389 VHOG:0001137 MESH:D014599 SCTID:181452004 GAID:172 CALOHA:TS-1102" + "The female muscular organ of gestation in which the developing embryo or fetus is nourished until birth." "EMAPA:29915 galen:Uterus FMA:17558 Wikipedia:Uterus EFO:0000975 MAT:0000127 MIAA:0000127 NCIT:C12405 BTO:0001424 EV:0100113 UMLS:C0042149 MA:0000389 VHOG:0001137 MESH:D014599 SCTID:181452004 GAID:172 CALOHA:TS-1102" "A lung carcinoma characterized by the presence of malignant non-keratinizing squamoid cells, mucin-producing cells and intermediate type cells." "UMLS:C1708778 EFO:0006740 ONCOTREE:LUMEC MONDO:0005616 DOID:0050932 MEDGEN:310949 NCIT:C45544" "A serious disorder characterized by massive adrenal gland hemorrhage secondary to a bacterial infection, most often Neisseria meningitidis infection. It is manifested with decreased blood pressure, shock, disseminated intravascular coagulation, and adrenocortical insufficiency." "ICD10CM:A39.1 ICD10EXP:E35.1* GARD:9449 MeSH:D014884 UMLS:C1403891 SCTID:36102002 Orphanet:100067 MedDRA:10047847 MONDO:0006015 DOID:9931 MESH:D014884 ICD9:036.3 icd11.foundation:2072098125 NCIT:C85225 MEDGEN:234675 MedDRA:10047846 ICD10EXP:A39.1+" @@ -40241,7 +39922,6 @@ "MEDGEN:336450 UMLS:C1848914 GARD:21326 SCTID:238023004 Orphanet:309192" "The amount of a mesothelin-like protein when measured in blood." "PMID:37794183" - "A disease involving a pathogenic inflammatory response in an anatomical structure. [ MONDO:patterns/inflammatory_disease_by_site ]" "NCIT:C93210 ICD9:799.89 UMLS:C1290884 MONDO:0021166 MEDGEN:452939 SCTID:128139000" "ICD10CM:H02.2 MEDGEN:57517 icd11.foundation:1200365909 DOID:12959 ICD9:374.2 ICD9:374.20 SCTID:60735000 UMLS:C0152226" "Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14]." "UMLS:C4280748" "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" @@ -40263,11 +39943,11 @@ "A allergic disease that involves the digestive tract." "MEDGEN:1843477 UMLS:C0221034 DOID:0060502" - "An iodothyronine compound having iodo substituents at the 3-, 3'- and 5-positions. Although some is produced in the thyroid, most of the 3,3',5-triiodo-L-thyronine in the body is generated by mono-deiodination of L-thyroxine in the peripheral tissues. Its metabolic activity is about 3 to 5 times that of L-thyroxine. The sodium salt is used in the treatment of hypothyroidism." "PDBeChem:T3 KEGG:C02465 PMID:11738632 KEGG COMPOUND:6893-02-3 DrugBank:DB00279 Wikipedia:Triiodothyronine PMID:15206581 KEGG COMPOUND:C02465 PMID:19339791 Drug_Central:1585 LINCS:LSM-3991 CiteXplore:15206581 ChemIDplus:6893-02-3 CAS:6893-02-3 Beilstein:2710227 NCIt:C2303 Reaxys:2710227 MetaCyc:CPD-10813 KEGG:D08128 NCIt:C907 SNOMEDCT:61275002 HMDB:HMDB0000265 SNOMEDCT:350358003 MeSH:D014284" + "An iodothyronine compound having iodo substituents at the 3-, 3'- and 5-positions. Although some is produced in the thyroid, most of the 3,3',5-triiodo-L-thyronine in the body is generated by mono-deiodination of L-thyroxine in the peripheral tissues. Its metabolic activity is about 3 to 5 times that of L-thyroxine. The sodium salt is used in the treatment of hypothyroidism." "PDBeChem:T3 KEGG:C02465 PMID:11738632 KEGG COMPOUND:6893-02-3 DrugBank:DB00279 Wikipedia:Triiodothyronine PMID:15206581 KEGG COMPOUND:C02465 PMID:19339791 Drug_Central:1585 LINCS:LSM-3991 CiteXplore:15206581 ChemIDplus:6893-02-3 CAS:6893-02-3 Beilstein:2710227 NCIt:C2303 Reaxys:2710227 KEGG:D08128 NCIt:C907 SNOMEDCT:61275002 HMDB:HMDB0000265 SNOMEDCT:350358003 MeSH:D014284" "X-linked intellectual disability, Cabezas type is characterized by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localized to the q24-q25 region of the X chromosome." "GARD:13244 DOID:0060822 MEDGEN:337334 OMIM:300354 Orphanet:85293 SCTID:719811001 UMLS:C1845861" "Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration." "MEDGEN:349893 GARD:5287 NORD:1793 UMLS:C1860808 SCTID:234405009 NCIT:C131652 OMIM:615512 ICD9:282.3 Orphanet:868 MESH:C566029 DOID:0050884" "Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a neurocutaneous syndrome characterized by congenital hypomelanotic and hypermelanotic cutaneous macules. It has been described in individuals spanning three generations of an Indian family. Some of the patients also had retarded growth and intellectual deficit." "Orphanet:2435 GARD:3347 MEDGEN:371988 OMIM:154000 SCTID:733469003 UMLS:C1835172 MESH:C537836" - "An alpha,omega-dicarboxylic acid that is dodecane in which the methyl groups have been oxidised to the corresponding carboxylic acids." "Gmelin:261693 KEGG:C02678 Patent:KR20110125221 CAS:693-23-2 LIPID_MAPS_instance:LMFA01170009 PMID:22242741 PMID:9591306 Beilstein:1782580 Reaxys:1782580 PMID:19428350 PMID:2302418 MetaCyc:CPD-10670 HMDB:HMDB0000623 Patent:EP2407444 PMID:24166667 AGR:IND44425877 PMID:11544559 Patent:EP2389349 Patent:WO2010085712 PMID:19222421 Patent:DE102007054497" + "An alpha,omega-dicarboxylic acid that is dodecane in which the methyl groups have been oxidised to the corresponding carboxylic acids." "Gmelin:261693 KEGG:C02678 Patent:KR20110125221 CAS:693-23-2 LIPID_MAPS_instance:LMFA01170009 PMID:22242741 PMID:9591306 Reaxys:1782580 PMID:19428350 PMID:2302418 MetaCyc:CPD-10670 HMDB:HMDB0000623 Patent:EP2407444 PMID:24166667 AGR:IND44425877 PMID:11544559 Patent:EP2389349 Patent:WO2010085712 PMID:19222421 Patent:DE102007054497" "The determination of the amount of n-acetylglucosamine-6-sulfatase in a sample" "PMID:28240269" "The amount of a cytidine deaminase when measured in blood." "PMID:37794183" @@ -40317,7 +39997,7 @@ "The amount of a attractin when measured in blood serum." "Quantification of retina-specific copper amine oxidase in a sample." "PMID:29875488" - "A 3alpha-hydroxy steroid that is castasterone which is lacking the oxo substituent at position 6." "Beilstein:5097016 LIPID_MAPS_instance:LMST01030127 PMID:14502988 KNApSAcK:C00000199 PMID:9927639 Reaxys:5097016 MetaCyc:CPD-723 KEGG:C15802" + "A 3alpha-hydroxy steroid that is castasterone which is lacking the oxo substituent at position 6." "LIPID_MAPS_instance:LMST01030127 PMID:14502988 KNApSAcK:C00000199 PMID:9927639 Reaxys:5097016 MetaCyc:CPD-723 KEGG:C15802" "OMIM:605711 OMIM:614299 OMIM:615330 OMIM:616370 OMIM:617613" "MeSH:D048229 SNOMEDCT:440978009" "Increased convexity of the occiput (posterior part of the skull)." "UMLS:C4280652 UMLS:C1853737" @@ -40337,7 +40017,6 @@ "A developmental and epileptic encephalopathy characterized by onset of seizures and pituitary insufficiency in the first weeks or months of life with profoundly impaired development that has material basis in homozygous or compound heterozygous mutation in the HID1 gene on chromosome 17q25." "OMIM:619983 DOID:0070391 MEDGEN:1823963 UMLS:C5774190" "Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism, intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature." "ICD10:Q87.8 OMIM:300472" "The amount of a endophilin-A3 when measured in blood serum." - "A coccidiosis that involves infection of the epithelial cells of the small intestine with Cystoisospora belli, which results in nonbloody diarrhea with crampy abdominal pain, malabsorption and weight loss." "MEDGEN:90233 MedDRA:10023076 MeSH:D021865 MONDO:0018769 icd11.foundation:137713224 Orphanet:472 UMLS:C0311386 DOID:2112 MESH:D021865 ICD10CM:A07.3 GARD:3033 NCIT:C4076 SCTID:371423007" "A sarcoma that arises from the bone. Representative examples are osteosarcoma and chondrosarcoma." "DOID:0080639 UMLS:C1704327 ICD9:170.9 GARD:20547 SCTID:448710000 Orphanet:223727 MEDGEN:352831 NCIT:C9312 MedDRA:10006007" "A serous adenocarcinoma that arises from the ovary and is characterized by the presence of a papillary architectural pattern." "DOID:6408 MEDGEN:233279 UMLS:C1335178 NCIT:C6256" @@ -40369,7 +40048,7 @@ "A demyelinating condition affecting the PONS and characterized clinically by an acute progressive QUADRIPLEGIA; DYSARTHRIA; DYSPHAGIA; and alterations of consciousness. Pathologic features include prominent demyelination in the central PONS with sparing of axons and neurons. This condition is usually associated with systemic disorders such as HYPONATREMIA; chronic ALCOHOLISM; LIVER FAILURE; severe BURNS; malignant NEOPLASMS; hemorrhagic PANCREATITIS; HEMODIALYSIS; and SEPSIS. The rapid medical correction of hyponatremia has been cited as a cause of this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1125-6)" "icd11.foundation:558060012 SCTID:6807001 MONDO:0006692 MESH:D017590 ICD10CM:G37.2 NCIT:C84623 NCIt:C84623 MEDGEN:64511 SNOMEDCT:6807001 DOID:636 UMLS:C0206083 MeSH:D017590 ICD10:G37.2 MedDRA:10007968 ICD9:341.8" "ICD10:Q87.8" "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a ustekinumab stimulus. Ustekinumab is a human immunoglobulin monoclonal antibody, used in the treatment of eg. psoriasis." "PMID:35154085" - "The R-enantiomer of serine." "PMID:22117694 YMDB:YMDB00284 PMID:19217074 PMID:22486999 PMID:22445805 PMID:21914633 MetaCyc:D-SERINE PMID:12850593 Gmelin:1041392 DrugBank:DB03929 CAS:312-84-5 Reaxys:1721403 KEGG:C00740 PMID:21956571 PMID:21295046 PMID:22266400 PMID:19212759 PMID:22369458 NCIt:C61739 HMDB:HMDB0003406 PMID:11864625 Beilstein:1721403 PMID:22128843 PMID:22280157 ECMDB:ECMDB03406 PMID:22362148 PMID:22465696 PDBeChem:DSN" + "The R-enantiomer of serine." "PMID:22117694 YMDB:YMDB00284 PMID:19217074 PMID:22486999 PMID:22445805 PMID:21914633 MetaCyc:D-SERINE PMID:12850593 Gmelin:1041392 DrugBank:DB03929 CAS:312-84-5 Reaxys:1721403 KEGG:C00740 PMID:21956571 PMID:21295046 PMID:22266400 PMID:19212759 PMID:22369458 NCIt:C61739 HMDB:HMDB0003406 PMID:11864625 PMID:22128843 PMID:22280157 ECMDB:ECMDB03406 PMID:22362148 PMID:22465696 PDBeChem:DSN" "Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance." "MEDGEN:444060 GARD:2362 NCIT:C188216 UMLS:C2931461 OMIM:157800 MESH:C563572 Orphanet:3238 SCTID:720612000" "A benign or malignant neoplasm that affects the peritoneal cavity. Representative examples of benign neoplasms include adenomatoid tumor and disseminated peritoneal leiomyomatosis. Representative examples of malignant neoplasms include primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma." "SCTID:126865007 EFO:1001100 MESH:D010534 MONDO:0006901 NCIT:C3322 UMLS:C0031149 MedDRA:10061344 MEDGEN:18392" "The amount of a serine hydroxymethyltransferase, cytosolic when measured in blood serum." @@ -40379,7 +40058,7 @@ "Orphanet:139030" "A poorly differentiated neuroendocrine carcinoma that arises from the breast. It is characterized by the presence of large neuroendocrine cells and high mitotic activity." "UMLS:C1511316 DOID:6657 NCIT:C40356 MEDGEN:307310" "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of darapladib stimulus. Darapladib is a lipoprotein-associated phospholipase A2 inhibitor, developed for the treatment of cardiovascular disease." - "A glycosyl glycoside formed by glucose and fructose units joined by an acetal oxygen bridge from hemiacetal of glucose to the hemiketal of the fructose." "PMID:16665852 KEGG:D06533 PMID:15845855 PMID:18625236 PMID:12065720 PMID:22085755 PMID:16228482 Wikipedia:Sucrose HMDB:HMDB0000258 KEGG:D00025 PMID:15291457 PMID:21972845 PMID:21703290 Gmelin:97695 Drug_Central:4610 PMID:12706980 Beilstein:90825 PMID:22311778 PMID:15660210 PMID:17439666 PMID:16304615 PMID:13508893 Reaxys:90825 PMID:16525719 PDBeChem:SUC PMID:22751876 PMID:22404833 CAS:57-50-1 PMID:19726178 PMID:19199566 PMID:11093712 PMID:16663947 PMID:16660545 PMID:17233733 Reaxys:1435311 DrugBank:DB02772 KEGG:C00089 PMID:17597061 MetaCyc:SUCROSE KNApSAcK:C00001151 KEGG:G00370 PMID:16313996 PMID:11021636 PMID:15792978 PMID:11111003" + "A glycosyl glycoside formed by glucose and fructose units joined by an acetal oxygen bridge from hemiacetal of glucose to the hemiketal of the fructose." "PMID:16665852 KEGG:D06533 PMID:15845855 PMID:18625236 PMID:12065720 PMID:22085755 PMID:16228482 Wikipedia:Sucrose HMDB:HMDB0000258 KEGG:D00025 PMID:15291457 PMID:21972845 PMID:21703290 Gmelin:97695 Drug_Central:4610 PMID:12706980 PMID:22311778 PMID:15660210 PMID:17439666 PMID:16304615 PMID:13508893 Reaxys:90825 PMID:16525719 PDBeChem:SUC PMID:22751876 PMID:22404833 CAS:57-50-1 PMID:19726178 PMID:19199566 PMID:11093712 PMID:16663947 PMID:16660545 PMID:17233733 Reaxys:1435311 DrugBank:DB02772 KEGG:C00089 PMID:17597061 MetaCyc:SUCROSE KNApSAcK:C00001151 KEGG:G00370 PMID:16313996 PMID:11021636 PMID:15792978 PMID:11111003" "SNOMEDCT:441033001" "A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas." "EFO:0006858 SCTID:118285006 MedDRA:10015105 MEDGEN:277963 UMLS:C1368683 MESH:D009375 NCIT:C3709 MONDO:0005626" "Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin." "UMLS:C0010481 GARD:6224 MESH:D000308 MedDRA:10011652 MedDRA:10020564 ICD9:255.0 OMIM:219090 DOID:12252 icd11.foundation:1654321425 ICD10:E24 MedDRA:10020610 ICD10CM:E24 MONDO:0018912 MESH:D003480 NCIt:C2969 Orphanet:553 MEDGEN:3681 NCIT:C2969 MeSH:D003480 MedDRA:10020562" @@ -40532,7 +40211,6 @@ "Quantification of the amount of C18 carnitine in a sample." "PMID:35995766" "A hexonic acid formed by oxidising the aldehyde group of gulose to a carboxylic acid group." "PMID:19768707" "GARD:21349 UMLS:C5681033 Orphanet:309824 MEDGEN:1842202" - "A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood. [ NCIt:C2902 ]" "ICD9:287.8 ICD10:D68 SCTID:64779008 MONDO:0001531 MESH:D001778 ICD9:286 MEDGEN:604 MeSH:D001778 UMLS:C0005779 NCIT:C2902 DOID:1247 NCIt:C2902 ICD9:286.9" "An autoimmune form of hypoparathyroidism." "UMLS:C0271865 GARD:18824 icd11.foundation:1790437089 Orphanet:36913 HP:0011771 SCTID:75316000 MEDGEN:488838" "OMIM:190351 OMIM:190350 ICD10:Q87.1" @@ -40575,7 +40253,6 @@ "The soft, fatty, vascular tissue that fills most bone cavities and is the source of red blood cells and many white blood cells." "MA:0000134 SAEL:11 EV:0100046 MAT:0000084 XAO:0000123 BTO:0000141 FMA:9608" - "A primary bacterial infectious disease that results_in infection located_in skin or located_in mucosa of genital tract, has_material_basis_in Klebsiella granulomatis, transmitted by sexual contact or transmitted_by contact with the open sores. The infection has_symptom painless genital ulcers." "icd11.foundation:764124124 MESH:D006100 MONDO:0005777 MeSH:D006100 MEDGEN:42291 SCTID:28867007 ICD10CM:A58 UMLS:C0018190 ICD9:099.2 MedDRA:10018693 ICD10:A58 DOID:9113 NCIT:C3065" "CS57822 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158846&type=germplasm" "PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." "ICD10:G23.1" "Is a quantification of some substance or anatomical feature used as an indicator of biological state" @@ -40725,7 +40402,7 @@ "Quantification of n-methylnicotinic acid in a sample." "PMID:33283231" "Polymyositis (PM)(\"inflammation of many muscles\") is a type of chronic inflammation of the muscles (inflammatory myopathy) related to dermatomyositis and inclusion body myositis." "MeSH:D017285 Wikipedia:Polymyositis icd11.foundation:1157134196 ICD10CM:M33.2 SCTID:31384009 SNOMEDCT:31384009 NANDO:1200276 MedDRA:10036102 UMLS:C0085655 GARD:7425 MEDGEN:39086 ICD9:710.4 MONDO:0019127 Orphanet:732 DOID:0080745 NCIT:C26925 MESH:D017285 NCIt:C26925" "Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue." "Orphanet:2805 icd11.foundation:634711891 MESH:C564908 DOID:0050877 UMLS:C5195568 MEDGEN:1681783 OMIMPS:260370 SCTID:719044008 GARD:4203" - "A dicarboxylic acid dianion obtained by deprotonation of both the carboxy groups of glutaric acid." "Beilstein:3904695 Gmelin:240388 Reaxys:3904695" + "A dicarboxylic acid dianion obtained by deprotonation of both the carboxy groups of glutaric acid." "Gmelin:240388 Reaxys:3904695" "human ovarian leiomyosarcoma from a 45 year old Japanese female" "A sphingomyelin in which the total number of carbons in the sphingoid base and fatty acyl groups is 38 with 3 double bonds." "Any neuroblastoma in which the cause of the disease is a mutation in the ALK gene." "OMIM:613014 UMLS:C2751681 MEDGEN:414083" @@ -40763,7 +40440,7 @@ "A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease." "OMIM:619258 UMLS:C5543253 DOID:0112279 MEDGEN:1787013" "SCTID:733451007 MEDGEN:1382656 UMLS:C4317295 OMIM:300884 GARD:12401 Orphanet:324422 DOID:0080470" - "The 3alpha-stereoisomer of 3-hydroxy-5beta-pregnan-20-one." "PMID:15828844 PMID:15358441 PMID:33988248 PMID:10958114 PMID:9651164 PMID:16720657 PMID:27833556 PMID:28991263 CAS:128-20-1 KEGG:C05480 PMID:14640542 Beilstein:3211364 PMID:15935549 Drug_Central:997 PMID:23949204 FooDB:FDB024063 HMDB:HMDB0006759 LIPID_MAPS_instance:LMST02030175 PMID:25620274 PMID:8470788 PMID:33757421 PDBeChem:P9N PMID:9610934 Reaxys:3211364 Wikipedia:Pregnanolone PMID:10335907 Chemspider:29132" + "The 3alpha-stereoisomer of 3-hydroxy-5beta-pregnan-20-one." "PMID:15828844 PMID:15358441 PMID:33988248 PMID:10958114 PMID:9651164 PMID:16720657 PMID:27833556 PMID:28991263 CAS:128-20-1 KEGG:C05480 PMID:14640542 PMID:15935549 Drug_Central:997 PMID:23949204 FooDB:FDB024063 HMDB:HMDB0006759 LIPID_MAPS_instance:LMST02030175 PMID:25620274 PMID:8470788 PMID:33757421 PDBeChem:P9N PMID:9610934 Reaxys:3211364 Wikipedia:Pregnanolone PMID:10335907 Chemspider:29132" "Hemoglobin E disease is an autosomal recessive genetic disorder caused by a single point mutation in the hemoglobin molecule." "NCIt:C35287" "Inflammation of the gingiva surrounding the crown of a tooth." "SNOMEDCT:22240003 SCTID:22240003 icd11.foundation:1764886525 UMLS:C0031055 MeSH:D010497 MedDRA:10034504 DOID:3671 MEDGEN:45399 MESH:D010497 MONDO:0006899" @@ -40826,7 +40503,7 @@ "OMIM:619245 MEDGEN:1779702 UMLS:C5543229 DOID:0112278" "Orphanet:309845 MEDGEN:541182 ICD9:275.8 MedDRA:10048260 GARD:21356 SCTID:46727001 UMLS:C0268085" - "A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see gait disorders, neurologic), progressive intellectual decline, and urinary incontinence. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of csf including subarachnoid hemorrhage, chronic meningitis, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)" "SCTID:30753002 MESH:D006850 MedDRA:10029773 SNOMEDCT:30753002 OMIM:236690 Orphanet:314928 MeSH:D006850 ICD9:331.5 DOID:1572 MONDO:0009366 UMLS:C0020258 MEDGEN:42526" + "A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see gait disorders, neurologic), progressive intellectual decline, and urinary incontinence. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of csf including subarachnoid hemorrhage, chronic meningitis, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)" "UMLS:C0020258 MONDO:0009366 SCTID:30753002 Orphanet:314928 MESH:D006850 SNOMEDCT:30753002 ICD9:331.5 MEDGEN:42526 DOID:1572 MedDRA:10029773 MeSH:D006850 OMIM:236690" "Quantification of the amount of X-12906 in a sample." "PMID:35347128" "Quantification of triglycerides to total lipids in very small VLDL." @@ -40963,7 +40640,6 @@ "Anlagen are populations of contiguous cells, typically arranged in one plane, that are morphologically indistinct, but that already correspond in extent to a later organ/tissue." "EHDAA2:0003170 AEO:0000170 FBbt:00005426 EFO:0001649 Wikipedia:Anlage_(biology)" "An aldohexose that is the C-4 epimer of glucose." "Wikipedia:Galactose CAS:26566-61-0 KEGG:C01582" "UMLS:C5680343 MEDGEN:1826079 GARD:16861 Orphanet:98754" - "stroke caused by the blockage of blood flow in one of the large arteries feeding the brain" "PMID:7678184 MONDO:0005490" "The amount of a triokinase/FMN cyclase when measured in blood serum." "OBSOLETE. Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele." @@ -41089,7 +40765,7 @@ "The amount of a proline-serine-threonine phosphatase-interacting protein 1 when measured in blood serum." "A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells. Representative examples include hydatidiform mole and choriocarcinoma." "DOID:4085 MESH:D014328 UMLS:C0041182 NCIT:C3422 MEDGEN:21708" "NCIt:C117213 CLO:0001654 RRID:CVCL_1067 BTO:0003846" - "A diastereoisomeric mixture of approximately equal amounts of all four possible stereoisomers ((R,S)-labetolol, (S,R)-labetolol, (S,S)-labetalol and (R,R)-labetalol). It is an adrenergic antagonist used to treat high blood pressure." "PMID:7295463 Reaxys:2948416 Patent:US4012444 Beilstein:2948416 Patent:DE2032642 PMID:33638710 PMID:33424327 HMDB:HMDB0014736 PMID:33210850 PMID:33893609 PMID:21908132 Wikipedia:Labetalol PMID:23055089 CAS:36894-69-6 KEGG:C07063 PMID:32709242 PMID:34217067 KEGG:D08106 LINCS:LSM-1282 DrugBank:DB00598 PMID:1447344 Drug_Central:1531 PMID:28166217 PMID:22528277 PMID:31643185 PMID:35075411 PMID:16795017 PMID:22300487" + "A diastereoisomeric mixture of approximately equal amounts of all four possible stereoisomers ((R,S)-labetolol, (S,R)-labetolol, (S,S)-labetalol and (R,R)-labetalol). It is an adrenergic antagonist used to treat high blood pressure." "PMID:7295463 Reaxys:2948416 Patent:US4012444 Patent:DE2032642 PMID:33638710 PMID:33424327 HMDB:HMDB0014736 PMID:33210850 PMID:33893609 PMID:21908132 Wikipedia:Labetalol PMID:23055089 CAS:36894-69-6 KEGG:C07063 PMID:32709242 PMID:34217067 KEGG:D08106 LINCS:LSM-1282 DrugBank:DB00598 PMID:1447344 Drug_Central:1531 PMID:28166217 PMID:22528277 PMID:31643185 PMID:35075411 PMID:16795017 PMID:22300487" "The amount of a 9,10-DiHODE when measured in blood plasma." "PMID:37057071" "Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." "OMIM:614326 ICD10:Q87.8" "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 SNP500 PANEL" @@ -41103,7 +40779,6 @@ "CLO:0001608 RRID:CVCL_3486" "An auditory and vibration detector in insects" "FBbt:00005215 MAT:0000209" - "A condition characterized by a dry, waxy type of swelling (EDEMA) with abnormal deposits of MUCOPOLYSACCHARIDES in the SKIN and other tissues. It is caused by a deficiency of THYROID HORMONES. The skin becomes puffy around the eyes and on the cheeks. The face is dull and expressionless with thickened nose and lips." "NCIT:C34834 MeSH:D009230 UMLS:C0027145 MESH:D009230 MedDRA:10028663 MONDO:0009718 SNOMEDCT:43153006 NCIt:C34834 SCTID:43153006 OMIM:255900 MEDGEN:6506 DOID:11634" "quantification of the severity of lung disease, eg cystic fibrosis, through comparison of an individual's FEV1 score to the average age-specific percentile values of FEV1 for each patient in a study\n\n\n" "PMID:26417704" @@ -41128,7 +40803,7 @@ "An autoimmune form of glomerulonephritis (disease)." "MEDGEN:480533 UMLS:C3278903 DOID:0040094" "OMIM:615057" "short or long term physiological response of an organism, eg in terms of deposits of dust particles in lung tissues, to exposure to mineral dust, usually of occupational or environment origin" - "The hydrochloride salt of cyproheptadine. Note that the drug named cyproheptadine hydrochloride generally refers to cyproheptadine hydrochloride sesquihydrate." "SNOMEDCT:15352003 CAS:969-33-5 NCIt:C28949 Reaxys:3575322 VSDB:2970 Beilstein:3575322" + "The hydrochloride salt of cyproheptadine. Note that the drug named cyproheptadine hydrochloride generally refers to cyproheptadine hydrochloride sesquihydrate." "SNOMEDCT:15352003 CAS:969-33-5 NCIt:C28949 Reaxys:3575322 VSDB:2970" "A disease believed to be caused by a viral illness that triggers degeneration of the nerve cells in the substantia nigra. Overall, this degeneration leads to clinical parkinsonism." "SCTID:19972008 Orphanet:97349 MeSH:D010301 DOID:14332 NCIT:C34898 MONDO:0001945 GARD:19370 MESH:D010301 MEDGEN:10591 UMLS:C0030568" "Ring chromosome 22 is a rare condition caused by having an abnormal chromosome 22 that forms a ring. In this chromosome abnormality,a segment on the short (p) arm and a segment on the long (q) arm of 22 are missing. The amount of material lost varies from person to person. The remaining ends of chromosome 22 have joined together to make a ring shape. Chromosome 22 is an acrocentric chromosome, meaning that the centromere is near one end, creating a very small short (p) arm that does not contain genes that are relevant to development. Thus, only the lost genes on the long (q) arm matter. Knowing the breakpoint in the long arm is likely more helpful. Most cases are sporadic (happen by chance) and occur in people with no history of the condition in their family." "UMLS:C0265492 Orphanet:1446 NORD:948 GARD:1336 SCTID:13555004 MESH:C536795 MEDGEN:539299" @@ -41181,7 +40856,6 @@ "RRID:CVCL_1058 CLO:0001565 BTO:0003767" "Poisonous animal secretions forming fluid mixtures of many different enzymes, toxins, and other substances. These substances are produced in specialized glands and secreted through specialized delivery systems (nematocysts, spines, fangs, etc.) for disabling prey or predator." "MESH:D014688 Wikipedia:Venom BTO:0001439" - "A luminous intensity unit is a base unit which is a standard measure of the wavelength-weighted power emitted by a light source in a particular direction." "The amount of a tuftelin when measured in blood serum." @@ -41213,7 +40887,7 @@ "An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." "SNOMEDCT_US:123982003 UMLS:C0545053" "Quantification of DNA/RNA-binding protein KIN17 in a sample." "PMID:29875488" - "An alkyl hydroperoxide in which the alkyl group is tert-butyl. It is widely used in a variety of oxidation processes." "PMID:22369679 CiteXplore:22369679 CiteXplore:22337620 NIST Chemistry WebBook:75-91-2 CAS:75-91-2 PMID:22337620 Beilstein:1098280 CiteXplore:22039964 ChEMBL:365419 CiteXplore:21418283 CiteXplore:22037478 ChemIDplus:75-91-2 Reaxys:1098280 PMID:22039964 PMID:21418283 MeSH:D020122 Wikipedia:Tert-Butyl_hydroperoxide CiteXplore:22326806 ChemIDplus:1098280 PMID:22326806 PMID:22037478" + "An alkyl hydroperoxide in which the alkyl group is tert-butyl. It is widely used in a variety of oxidation processes." "PMID:22369679 CiteXplore:22369679 CiteXplore:22337620 NIST Chemistry WebBook:75-91-2 CAS:75-91-2 PMID:22337620 CiteXplore:22039964 ChEMBL:365419 CiteXplore:21418283 CiteXplore:22037478 ChemIDplus:75-91-2 Reaxys:1098280 PMID:22039964 PMID:21418283 MeSH:D020122 Wikipedia:Tert-Butyl_hydroperoxide CiteXplore:22326806 ChemIDplus:1098280 PMID:22326806 PMID:22037478" "The amount of a immunoglobulin superfamily DCC subclass member 4 when measured in blood serum." "An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes." "SCTID:52333004 MeSH:D005203 DOID:2708 UMLS:C0155889 MONDO:0005865 MedDRA:10028397 MEDGEN:102344 ICD9:495.5" "Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect." "OMIM:608406 ICD10:Q87.8" @@ -41327,7 +41001,7 @@ "Quantification of igLON family member 5 in a sample." "PMID:29875488" "MEDGEN:1804672 OMIM:619935 UMLS:C5677009" "Neuroblast of the embryonic ventral midline that is a precursor to larval ventral midline neurons, which are found in the ventralmost part of the ventral nerve cord (Kearney et al., 2004). There are four of these cells per neuromere and each divides once to produce two progeny cells (Kearney et al., 2004)." "VFB:FBbt_00005565 FBbt:00005565" - "The primary alcohol that is the simplest aliphatic alcohol, comprising a methyl and an alcohol group." "PMID:11430978 KEGG:D02309 Wikipedia:Methanol PMID:11684179 PMID:16705261 UM-BBD_compID:c0132 PMID:17451998 PMID:15906011 PMID:11680737 PMID:19850112 PMID:19064074 MetaCyc:METOH PMID:14760634 PMID:15172721 PMID:14012711 PMID:14678513 PDBeChem:MOH PMID:17733096 Gmelin:449 CAS:67-56-1 PMID:11489599 Beilstein:1098229 Reaxys:1098229 HMDB:HMDB0001875 PMID:11141607 KEGG:C00132 PMID:20314698" + "The primary alcohol that is the simplest aliphatic alcohol, comprising a methyl and an alcohol group." "PMID:11430978 KEGG:D02309 Wikipedia:Methanol PMID:11684179 PMID:16705261 UM-BBD_compID:c0132 PMID:17451998 PMID:15906011 PMID:11680737 PMID:19850112 PMID:19064074 MetaCyc:METOH PMID:14760634 PMID:15172721 PMID:14012711 PMID:14678513 PDBeChem:MOH PMID:17733096 Gmelin:449 CAS:67-56-1 PMID:11489599 Reaxys:1098229 HMDB:HMDB0001875 PMID:11141607 KEGG:C00132 PMID:20314698" "An autosomal dominant condition caused by mutation(s) in the GFI1B gene, encoding zinc finger protein Gfi-1b. It is characterized by a tendency for increased bleeding due to abnormal platelet function." "DOID:0111049 MESH:C566060 NCIT:C142084 OMIM:187900 GARD:15117 UMLS:C1861194 MEDGEN:396078" "A carcinoma that arises from epithelial cells of the zone of skin" "NCIT:C4914 MONDO:0002656 UMLS:C0699893 DOID:3451 MEDGEN:195945" @@ -41376,7 +41050,6 @@ "The amount of a G-protein coupled receptor 26 when measured in blood serum." - "Blood clot formation in any part of the CAROTID ARTERIES. This may produce CAROTID STENOSIS or occlusion of the vessel, leading to TRANSIENT ISCHEMIC ATTACK; CEREBRAL INFARCTION; or AMAUROSIS FUGAX." "UMLS:C0007274 DOID:3410 SNOMEDCT:86003009 MEDGEN:40119 SCTID:86003009 ICD9:433.10 MESH:D002341 MeSH:D002341 MONDO:0006690 MedDRA:10007688" "Abnormal levels of minerals in the blood." "ICD9:275.9 ICD10CM:E83 UMLS:C0154260 ICD10:E83 MEDGEN:509562 SCTID:45744005 ICD9:275.8 MONDO:0000226" "A hematopoietic stem cell capable of rapid replenishment of myeloerythroid progenitors and limited self renewal capability. This cell is Kit-positive, Sca1-positive, CD34-positive, CD150-positive, and is Flt3-negative." "MeSH:C536618 UMLS:C2931267 ICD10:Q87.8 OMIM:251240" @@ -41384,14 +41057,13 @@ "SNOMEDCT:52798008 NCIt:C86182" "An infection that develops in the diverticula of the intestinal tract. Signs and symptoms include abdominal pain, fever, and leukocytosis." "EFO:1001460 SCTID:307496006 MEDGEN:41629 UMLS:C0012813 NCIT:C26752 DOID:7475 MESH:D004238" - "A 2-oxo monocarboxylic acid anion that is the conjugate base of 2-oxobutanoic acid, obtained by deprotonation of the carboxy group." "HMDB:HMDB0000005 MetaCyc:2-OXOBUTANOATE UM-BBD_compID:c0360 Beilstein:3601760 Reaxys:3601760 KEGG:C00109 Gmelin:899148" + "A 2-oxo monocarboxylic acid anion that is the conjugate base of 2-oxobutanoic acid, obtained by deprotonation of the carboxy group." "HMDB:HMDB0000005 MetaCyc:2-OXOBUTANOATE UM-BBD_compID:c0360 Reaxys:3601760 KEGG:C00109 Gmelin:899148" "Quantification of the amount of L-Serine in a sample." "PMID:33634981" "A malignant neoplasm arising from adipocytes, that occurs in adults. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma." "NANDO:2200065 DOID:5693 MEDGEN:75842 NCIT:C7811 UMLS:C0278608" - "a syndrome typically consisting of angina (cardiac chest pain) at rest that occurs in cycles. It is caused by vasospasm, a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis (buildup of fatty plaque and hardening of the arteries)." "Wikipedia:Prinzmetal's_angina MESH:D000788 UMLS:C0002963 SNOMEDCT:23687008 MEDGEN:295 SCTID:87343002 ICD9:413.1 MONDO:0006021 MedDRA:10011088 DOID:0111151 NCIt:C66915 SNOMEDCT:87343002" "MEDGEN:777992 DOID:0111206 Orphanet:139525 UMLS:C3711384 icd11.foundation:152961055 MESH:C580044 GARD:16954" "Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the \"molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." "Orphanet:140874 NANDO:2200824 NANDO:2100218 MEDGEN:1826007 GARD:19931 UMLS:C5679612 NANDO:1200661" "Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells is an exceedingly rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration, and severe diarrhea unresponsive to various nutrients and formulas, and require home parenteral nutrition. Diabetes mellitus has also been reported." "OMIM:610370 MESH:C563673 DOID:0060779 MEDGEN:372151 SCTID:722392003 GARD:16729 Orphanet:83620 UMLS:C1835888" - "A long-chain fatty acid anion that is the conjugate base of hexadecanoic acid (palmitic acid); major species at pH 7.3." "Reaxys:3589907 CAS:143-20-4 Beilstein:3589907 MetaCyc:PALMITATE HMDB:HMDB0000220 Gmelin:344266" + "A long-chain fatty acid anion that is the conjugate base of hexadecanoic acid (palmitic acid); major species at pH 7.3." "Reaxys:3589907 CAS:143-20-4 MetaCyc:PALMITATE HMDB:HMDB0000220 Gmelin:344266" "A coagulation disorder characterized by the partial or complete absence of factor X activity in the blood." "NCIT:C131632 UMLS:C0015519 SCTID:76642003 MESH:D005171 NANDO:2200678 MEDGEN:4635" "A usually aggressive malignant neoplasm arising from the small intestine. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." "UMLS:C1335994 DOID:6880 MEDGEN:234788 NCIT:C5336" "The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes." "UMLS:C0011603 SNOMEDCT_US:703938007 MP:0004947 UMLS:C3875321" @@ -41440,7 +41112,7 @@ "Any leukodystrophy in which the cause of the disease is a mutation in the HIKESHI gene." "MEDGEN:896545 UMLS:C4225170 OMIM:616881 DOID:0060795" "A dsRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Reoviridae viruses." "MONDO:0005939 MEDGEN:48410 DOID:1334 MESH:D012088 UMLS:C0035112 MeSH:D012088" - "An assay that determines the grade (severity/stage) of a tumor sample, used in cancer biology to describe abnormalities/qualities of tumor cells or tissues. Values can be described by terms from NCI Thesaurus." + "An assay that determines the grade (severity/stage) of a tumor sample, used in cancer biology to describe abnormalities/qualities of tumor cells or tissues. Values can be described by terms from NCI Thesaurus."@en "Quantification of the amount of X-12849 in a sample." "PMID:35347128" "Quantification of translin in a sample." "PMID:29875488" "Any Seckel syndrome in which the cause of the disease is a mutation in the ATR gene." "OMIM:210600 MEDGEN:1637056 GARD:15143 DOID:0070007 UMLS:C4551474" @@ -41517,7 +41189,7 @@ "Any myofibromatosis in which the cause of the disease is a mutation in the PDGFRB gene." "OMIM:228550 MESH:C562978 SCTID:254146000 MEDGEN:1632352 ICD9:756.9 UMLS:C4551572" "A genetic predisposition to form IgE antibodies in response to exposure to allergens and therefore, for the development of immediate (type I) hypersensitivity and atopic conditions, such as allergic rhinitis; bronchial asthma, atopic dermatitis, and food allergy. Mutations of specific alleles on the long arm of chromosome 5 have been associated with higher levels of IL-4 and IgE and are known as IL-4 promoter polymorphisms." "MONDO:0005202 SCTID:115665000 UMLS:C1706410 MEDGEN:739536 SNOMEDCT:115665000 MedDRA:10003645 NCIt:C41366 ICD9:995.3" - "A sulfur-containing amino acid obtained by the oxidation of two cysteine molecules which are then linked via a disulfide bond." "PMID:24525030 PMID:24327171 KEGG:C01420 PMID:24525029 PMID:18608550 Beilstein:1728091 CAS:923-32-0 Reaxys:1728091 Gmelin:83347 Wikipedia:Cystine" + "A sulfur-containing amino acid obtained by the oxidation of two cysteine molecules which are then linked via a disulfide bond." "PMID:24525030 PMID:24327171 KEGG:C01420 PMID:24525029 PMID:18608550 CAS:923-32-0 Reaxys:1728091 Gmelin:83347 Wikipedia:Cystine" "A disorder characterized by inflammation of the entire uvea which includes the iris, ciliary body, and choroid. Causes include systemic infections, sarcoidosis, and cancers." "MESH:D015864 SNOMEDCT:75614007 Orphanet:280898 MeSH:D015864 MONDO:0017255 ICD9:360.12 HP:0012121 NCIt:C84989 DOID:12030 icd11.foundation:1125547814 MedDRA:10033687 MEDGEN:45303 SCTID:75614007 GARD:8577 NCIT:C84989 UMLS:C0030343" "Quantification of the amount of carboxyhemoglobin (a stable complex of carbon monoxide and hemoglobin) in a sample." "Wikipedia:Carboxyhemoglobin PMID:33441150" "A benign form of phosphorylase kinase deficiency caused by variants in PHKA2 or PHKG2 and characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood." "Orphanet:264580 UMLS:C2012260 GARD:17261 MEDGEN:453209" @@ -41536,7 +41208,6 @@ "Intestinal metaplasia of the gastric mucosa is an intermediate precancerous gastric lesion in the gastric cancer cascade from chronic gastritis and atrophy to dysplasia and adenocarcinoma. Although the risk of gastric cancer is increased in patients with intestinal metaplasia, the absolute risk is low. Subsets of patients with intestinal metaplasia may be at higher risk for progression. However, novel biomarkers are needed to better identify high-risk subgroups, and definitive studies are essential to determine the optimal interval for cancer surveillance in patients at increased risk for gastric cancer. (http://www.uptodate.com/contents/gastric-intestinal-metaplasia)" "NCIt:C8361" "The determination of the amount of cerebral dopamine neurotrophic factor in a sample" "PMID:28240269" "An instance of periodic fever syndrome that is caused by an inherited modification of the individual's genome." "GARD:21453 Orphanet:324924 MESH:D056660 MEDGEN:199651 UMLS:C0751422" - "A syphilis that results_in a multisystem infection in the fetus via the placenta." "MEDGEN:52622 ICD9:090.9 SCTID:35742006 Orphanet:499009 NCIT:C84649 NORD:1753 ICD9:090 MeSH:D013590 GARD:22036 DOID:9856 MESH:D013590 UMLS:C0039131 MONDO:0005714 icd11.foundation:587996426 ICD10CM:A50 MedDRA:10010642 MedDRA:10010641" "Quantification of the amount of X-11552 in a sample." "PMID:24816252" "An autoimmune form of cardiomyopathy." "DOID:0040095" "Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints." "DOID:0050794 UMLS:C0175700 OMIMPS:186500 GARD:3836 MEDGEN:511579 icd11.foundation:248917534 Orphanet:3237" @@ -41553,7 +41224,6 @@ "The part of the cerebral cortex that receives projections from the motor thalamus and which projects to motor neurons in the brainstem and spinal cord. The motor cortex corresponds to Brodmann's area 4 (MM). The primary motor cortex, or M1, is located on the precentral gyrus and on the anterior paracentral lobule on the medial surface of the brain. Of the three motor cortex areas, stimulation of the primary motor cortex requires the least amount of electrical current to elicit a movement. http://neuroscience.uth.tmc.edu/s3/chapter03.html." "BM:Tel-Cx-M1 MA:0000907 MESH:D009044 FMA:224854 Wikipedia:Primary_motor_cortex SCTID:11931008 EFO:0002472 UMLS:C0026607 BTO:0004348 neuronames:1910 MBA:985 NCIT:C97339 EMAPA:35704 NLX:143555 BAMS:M1 DHBA:10162 BAMS:MO BAMS:MOp" "The amount of a nucleosome-remodeling factor subunit BPTF when measured in blood serum." "The amount of a phosphatidylcholine O-16:1_18:1 when measured in blood serum." - "Neoplasms which arise from peripheral nerve tissue. This includes NEUROFIBROMAS; SCHWANNOMAS; GRANULAR CELL TUMORS; and malignant peripheral NERVE SHEATH NEOPLASMS. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp1750-1)" "MEDGEN:45817 MeSH:D010524 NCIT:C3321 DOID:1192 UMLS:C0031118 MESH:D010524 ICD9:239.2 SCTID:126980002 SNOMEDCT:126980002 NCIt:C3321 ONCOTREE:PNS MONDO:0001406" "Quantification of semaphorin-3B in a sample." "PMID:29875488" "Larsen-like syndrome, lethal type, is characterized by multiple joint dislocation and respiratory insufficiency due to tracheomalacia and/or lung hypoplasia. It has been described in less than ten patients. Transmission is thought to be autosomal recessive. Brain dysplasia has been described in some patients and could result from systemic hypoxic-ischemic insults during the second half of pregnancy, although genetic factors have not been ruled out." "GARD:3181 OMIM:245650 MESH:C537872 SCTID:719409004 MEDGEN:343375 Orphanet:2371 UMLS:C1855535 icd11.foundation:1014532279" "Spastic paraparesis-deafness syndrome is a chronic neurodegenerative disorder characterized by spastic paraparesis (beginning at about 10 years of age) and hearing deficits." "OMIM:312910 MEDGEN:419037 UMLS:C2931291 ICD10CM:G11.4 GARD:5555 MESH:C536692 DOID:0081100 SCTID:715504003 Orphanet:2815" @@ -41569,7 +41239,6 @@ "Alteration of the disposition and/or effect of a drug, owing to the presence of another factor such as a second drug, or food." "UMLS:C0687133 NCIt:C54708 MedDRA:10013710" "Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision." "SCTID:419074008 OMIM:217600 GARD:16881 UMLS:C1622427 MEDGEN:302006 Orphanet:98972 MESH:C563262" "A urolithiasis that involves the lower urinary tract." "ICD9:594.8 DOID:9590 MEDGEN:510219 ICD9:594 ICD10CM:N21 SCTID:79509009 ICD9:594.9 ICD10CM:N21.9 UMLS:C0156264" - "A rare disorder consisting of microangiopathy of brain, retina, and inner ear ARTERIOLES. It is characterized by the clinical triad of encephalopathy, BRANCH RETINAL ARTERY OCCLUSION and VERTIGO/hearing loss." "SNOMEDCT:702575003 UMLS:C2717757 MeSH:D055955 icd11.foundation:1292480458 ICD9:348.39 MONDO:0019390 Wikipedia:Susac's_syndrome NCIT:C116363 MESH:D055955 GARD:7713 Orphanet:838 SCTID:702575003 NCIt:C116363 MedDRA:10071573 NORD:1747 MEDGEN:439270 ORDO:Orphanet_838" "Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty." "OMIM:146550 MeSH:C535912 OMIM:612841 UMLS:C2931059 ICD10:Q84.0" "OMIM:614468 ICD10:L50.2 OMIM:614878" @@ -41586,7 +41255,7 @@ "Quantification of palmitoleoyl-protein carboxylesterase NOTUM in a sample." "PMID:29875488" "icd11.foundation:946446904 Orphanet:79219 MEDGEN:1843271 GARD:18979 UMLS:C5681275" "Concentration of protoporphyrins in erythrocytes above the upper limit of normal." "UMLS:C4023007" - "Subdivision of skeleton that is an anterolateral part of the cranium and structurally supports the eye. Includes bones formed and located in sclerotic layer of eyeball." "TAO:0001410 BTO:0004687 ZFA:0001410 galen:Orbit FMA:53074 Wikipedia:Orbit_(anatomy) MESH:D009915 NCIT:C12347 GAID:223 UMLS:C0029180 MA:0002482 XAO:0003171" + "Subdivision of skeleton that is an anterolateral part of the cranium and structurally supports the eye. Includes bones formed and located in sclerotic layer of eyeball." "TAO:0001410 BTO:0004687 ZFA:0001410 FMA:53074 galen:Orbit Wikipedia:Orbit_(anatomy) MESH:D009915 NCIT:C12347 GAID:223 UMLS:C0029180 MA:0002482 XAO:0003171" "OMIM:619177 DOID:0112273 MEDGEN:1780365 UMLS:C5543033" "MEDGEN:1684867 UMLS:C5231400 OMIM:618009 GARD:18514" @@ -41670,6 +41339,7 @@ "A basally situated, mitotically active, columnar-shaped keratinocyte attached to the basement membrane." "FMA:70571" "The amount of a glycosyltransferase 8 domain-containing protein 1 when measured in blood serum." "A squamous cell carcinoma arising from the salivary glands. The majority of patients are in their sixth through eight decades. It usually presents as a rapidly enlarging mass, which may be painful. It usually has an aggressive clinical course." "Orphanet:500481 UMLS:C0279697 MEDGEN:83545 NCIT:C7991 MONDO:0044740 GARD:17929 NCIt:C7991" + "OBSOLETE. The chemical reactions and pathways resulting in the formation of substances, carried out by individual cells." "Strain family." "TGEMO:00050 MGI:2160604" "Dysphoria is a profound state of unease or dissatisfaction. In a psychiatric context, dysphoria may accompany depression, anxiety, or agitation. Common reactions to dysphoria include emotional distress or indifference." "Wikipedia:Dysphoria OAE:0001946 MedDRA:10013954" "Quantification of the amount of X-10500 in a sample." "PMID:24816252" @@ -41779,7 +41449,7 @@ "The amount of a sperm surface protein Sp17 when measured in blood serum." "A malignant adipose tissue neoplasm of the anterior, middle or posterior mediastinum." "MEDGEN:233683 DOID:5713 NCIT:C6614 UMLS:C1334663" - "A dicarboximide that is pyrrolidine which is substituted by oxo groups at positions 2 and 5." "PMID:31369977 Gmelin:2679 Chemspider:10955 PMID:6074043 PMID:15950535 PMID:27697054 Wikipedia:Succinimide Drug_Central:4723 PMID:22969621 Beilstein:108440 KEGG:C07273 CAS:123-56-8 PMID:32646356 KEGG:D08532 DrugBank:DB13376 Reaxys:108440 PMID:19123844 PMID:31133775 PMID:24448553 HMDB:HMDB0240653" + "A dicarboximide that is pyrrolidine which is substituted by oxo groups at positions 2 and 5." "PMID:31369977 Gmelin:2679 Chemspider:10955 PMID:6074043 PMID:15950535 PMID:27697054 Wikipedia:Succinimide Drug_Central:4723 PMID:22969621 KEGG:C07273 CAS:123-56-8 PMID:32646356 KEGG:D08532 DrugBank:DB13376 Reaxys:108440 PMID:19123844 PMID:31133775 PMID:24448553 HMDB:HMDB0240653" "The amount of a complement C1q-like protein 2 when measured in blood serum." "The cells of the hatching gland contain enzymes responsible for solubilization of the egg chorion, facilitating the hatching process[GO]. A transversely oriented set of cells located deep to the EVL on the pericardial membrane, especially prominent during pharyngula period because of the brightly refractile cytoplasmic granules (containing hatching enzymes) of the principal cells of the gland." "TAO:0000026 VHOG:0000078 EFO:0000863 XAO:0000034 BTO:0000558 MAT:0000180 AAO:0011050 MIAA:0000180 ZFA:0000026" "Orphanet:98669 SCTID:449866003 ICD9:743.56 MEDGEN:757909 icd11.foundation:44221751 UMLS:C3266134" @@ -41792,9 +41462,8 @@ "A type of chronic rhinosinusitis that is characterized by the absence of nasal polyps." "MedDRA:10084742" "The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy." "icd11.foundation:1663254692 GARD:17292 UMLS:C5439441 Orphanet:280234 MEDGEN:1740046" "UMLS:C0752354 OMIM:602668 MeSH:D020967 ICD10:G71.1" - "Parathyroid hyperplasia is the enlargement of all four parathyroid glands. The parathyroid glands are glands in the neck that produce parathyroid hormone (PTH). (https://www.nlm.nih.gov/medlineplus/ency/article/001189.htm)" "HP:0008208 UMLS:C0271844 NCIT:C3989 NCIt:C3989 MONDO:0006354 MEDGEN:75767 SCTID:9092004 MedDRA:10079611" "A disease caused by infection with Erysipelothrix rhusiopathiae." "MONDO:0006752 ICD10:A26 ICD10CM:A26 SCTID:400105005 MESH:D004887 MeSH:D004887 MEDGEN:266170 DOID:2471 DOID:0050061 UMLS:C1276801" - "A member of the class of thiazolidenediones that is 1,3-thiazolidine-2,4-dione substituted by a benzyl group at position 5 which in turn is substituted by a 2-(5-ethylpyridin-2-yl)ethoxy group at position 4 of the phenyl ring. It exhibits hypoglycemic activity." "Beilstein:3595485 PMID:34006325 PMID:17628757 PMID:33983968 MeSH:C060836 Chemspider:4663 PMID:18215232 Wikipedia:Pioglitazone PMID:27842070 SNOMEDCT:326058001 KEGG:D08378 CAS:111025-46-8 PMID:33798599 PMID:14522601 KEGG:C07675 PMID:20797618 PMID:33864097 PMID:33995271 PMID:12879407 DrugBank:DB01132 Patent:EP193256 HMDB:HMDB0015264 LINCS:LSM-1592 SNOMEDCT:395828009 Drug_Central:2179 Reaxys:3595485 Patent:US4687777 PMID:34009030 NCIt:C71633" + "A member of the class of thiazolidenediones that is 1,3-thiazolidine-2,4-dione substituted by a benzyl group at position 5 which in turn is substituted by a 2-(5-ethylpyridin-2-yl)ethoxy group at position 4 of the phenyl ring. It exhibits hypoglycemic activity." "PMID:34006325 PMID:17628757 PMID:33983968 MeSH:C060836 Chemspider:4663 PMID:18215232 Wikipedia:Pioglitazone PMID:27842070 SNOMEDCT:326058001 KEGG:D08378 CAS:111025-46-8 PMID:33798599 PMID:14522601 KEGG:C07675 PMID:20797618 PMID:33864097 PMID:33995271 PMID:12879407 DrugBank:DB01132 Patent:EP193256 HMDB:HMDB0015264 LINCS:LSM-1592 SNOMEDCT:395828009 Drug_Central:2179 Reaxys:3595485 Patent:US4687777 PMID:34009030 NCIt:C71633" "The amount of a Ran-specific GTPase-activating protein when measured in blood." "PMID:37794183" "Melanoma-associated retinopathy (MAR) is a rare autoimmune condition that occurs in some people with melanoma (a type of skin cancer) and can affect the vision." "UMLS:C0730308 icd11.foundation:2011212045 MEDGEN:452708 SCTID:312941005 GARD:12041" "Delta-beta-thalassemia is a form of beta-thalassemia characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis." "MEDGEN:78790 ICD10CM:D56.2 ICD9:282.49 GARD:17165 NCIT:C172823 Orphanet:231237 UMLS:C0271985 SCTID:16360009 DOID:0080773 MESH:C562716 MedDRA:10012236" @@ -41850,7 +41519,6 @@ "quantification of some aspect of air pollution through traffic, such as annual average NO2 exposure estimates derived using land use regression modeling" "PMID:27901618" "The amount of a suprabasin when measured in blood serum." - "An arthritis that results_from an autoimmune disease which attacks healthy cells and tissue located_in joint." "SNOMEDCT:69896004 icd11.foundation:576319925 NCIT:C2884 MEDGEN:2078 ICD10:M05 Orphanet:284130 MedDRA:10039073 MONDO:0008383 MeSH:D001172 ICD9:714.0 NCIt:C2884 UMLS:C0003873 ICD10:M06 OMIM:180300 SCTID:69896004 OMIM:604302 MESH:D001172 DOID:7148 MedDRA:10037740 HP:0001370" "A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. It has material basis in homozygous mutation in the ERCC4 gene on chromosome 16p13." "MEDGEN:410064 MESH:C567043 OMIM:610965 DOID:0060590 NCIT:C173111 UMLS:C1970416" "The amount of a glutamate decarboxylase 1 when measured in blood." "PMID:37794183" @@ -41878,7 +41546,7 @@ "Quantification of circulating alpha-Klotho in a sample." "PMID:34542150" "The amount of a ERO1-like protein beta when measured in blood serum." "A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males." "NCIT:C9335 MEDGEN:651 ICD9:174.8 UMLS:C0006142 SCTID:254837009 ICD10CM:C50 DOID:1612" - "An organic heterotricyclic compound that is a mycotoxin produced by Helminthosporium and other moulds which is cell permeable and a potent inhibitor of actin polymerisation and DNA synthesis." "PMID:20010439 PMID:23615686 Beilstein:1632828 PMID:22728040 PMID:5800426 Wikipedia:Cytochalasin_D Reaxys:1632828 PMID:22684244 CAS:22144-77-0 PMID:7199049 PMID:22305779 PDBeChem:CY9" + "An organic heterotricyclic compound that is a mycotoxin produced by Helminthosporium and other moulds which is cell permeable and a potent inhibitor of actin polymerisation and DNA synthesis." "PMID:20010439 PMID:23615686 PMID:22728040 PMID:5800426 Wikipedia:Cytochalasin_D Reaxys:1632828 PMID:22684244 CAS:22144-77-0 PMID:7199049 PMID:22305779 PDBeChem:CY9" "Heart defect – round face – congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit." "ICD10:Q87.8 OMIM:270460 UMLS:C0796162" "Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms." "GARD:12827 Orphanet:69735" "A condition of elevated levels of TRIGLYCERIDES in the blood." "NCIt:C37971 SNOMEDCT:302870006 MedDRA:10020870 UMLS:C0813230 HP:0002155 SCTID:302870006 MeSH:D015228 MONDO:0005347 MESH:D015228 MEDGEN:167238" @@ -42016,7 +41684,7 @@ "A benign or malignant extra-adrenal paraganglioma arising from paraganglia in the head and neck. Representative examples include the carotid body and jugulotympanic paragangliomas." "NCIT:C5327 NCIt:C5327 MEDGEN:232588 MONDO:0006239 UMLS:C1333944" "The amount of a 2-phosphoxylose phosphatase 1 when measured in blood serum." "An anatomic abnormality that occurs during embryonic development, in which the aortic arch is right-sided." "UMLS:C0035615 icd11.foundation:769265824 Orphanet:99081 HP:0012020 SCTID:111321007 NCIT:C103917 GARD:19640 MEDGEN:48474 MedDRA:10067407" - "The E (trans) stereoisomer of cinnamaldehyde, the parent of the class of cinnamaldehydes." "SNOMEDCT:255647002 KNApSAcK:C00035187 PMID:11975643 NCIt:C76703 SNOMEDCT:411358009 KEGG:C00903 PMID:21469739 PMID:29079364 PMID:17140783 PMID:19845671 PMID:21394803 Beilstein:1071571 CAS:14371-10-9 PMID:21603596 PMID:21708228 BPDB:1069 PMID:18218683 PMID:21466812 KNApSAcK:C00002725 PMID:20431333 PMID:21266172 PMID:21767279 Wikipedia:Cinnamaldehyde HMDB:HMDB0003441 PMID:21388814 PMID:20955755 Reaxys:1071571 PMID:21788726 PMID:21517069 PMID:17662960" + "The E (trans) stereoisomer of cinnamaldehyde, the parent of the class of cinnamaldehydes." "SNOMEDCT:255647002 KNApSAcK:C00035187 PMID:11975643 NCIt:C76703 SNOMEDCT:411358009 KEGG:C00903 PMID:21469739 PMID:17140783 PMID:29079364 PMID:19845671 PMID:21394803 CAS:14371-10-9 PMID:21603596 PMID:21708228 BPDB:1069 PMID:18218683 PMID:21466812 KNApSAcK:C00002725 PMID:20431333 PMID:21266172 PMID:21767279 Wikipedia:Cinnamaldehyde HMDB:HMDB0003441 PMID:21388814 PMID:20955755 Reaxys:1071571 PMID:21788726 PMID:21517069 PMID:17662960" "An autosomal dominant inherited syndrome caused by mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer." "ICD10:C50 MESH:D061325 DC:0000638 NCIT:C8493 SCTID:718220008 OMIMPS:604370 DOID:5683 UMLS:C0677776 Orphanet:145 GARD:0012352 GARD:0012351 ICD10:C56" "OMIM:620173 MEDGEN:1824050 UMLS:C5774277" "Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination." "SNOMEDCT_US:91918005 UMLS:C0685894 SNOMEDCT_US:702623002" @@ -42124,7 +41792,7 @@ "Primary localized amyloidosis is a form of AL amyloidosis caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin." "GARD:21387 MEDGEN:1842348 Orphanet:314709 UMLS:C5679901" "The amount of a putative protein-lysine deacylase ABHD14B when measured in blood." "PMID:37794183" - "The nasal septum separates the left and right airways in the nose, dividing the two nostrils. It is depressed by the Depressor septi nasi muscle. [WP,unvetted]." "EMAPA:17608 EHDAA2:0004104 UMLS:C0027432 VHOG:0000017 SCTID:181197004 AAO:0010135 NCIT:C33160 EHDAA2:0001234 Wikipedia:Nasal_septum EHDAA:6809 MESH:D009300 AAO:0000559 GAID:115 MA:0000285 FMA:54375" + "The nasal septum separates the left and right airways in the nose, dividing the two nostrils. It is depressed by the Depressor septi nasi muscle. [WP,unvetted]." "EMAPA:17608 FMA:54375 EHDAA2:0004104 UMLS:C0027432 VHOG:0000017 SCTID:181197004 AAO:0010135 NCIT:C33160 EHDAA2:0001234 Wikipedia:Nasal_septum EHDAA:6809 MESH:D009300 AAO:0000559 GAID:115 MA:0000285" "Strain family." "TGEMO:00041 MGI:3609372" "Single-nucleus droplet-based sequencing (snDrop-seq)" "PMID:29227469" "The amount of a Phosphatidylcholine (18:1_18:3) when measured in blood serum." @@ -42367,7 +42035,7 @@ "The amount of a Leu-Ser when measured in blood." "PMID:37253714" "C. elegans 350-620min after first cleavage at 20 Centigrade. Cell number remains at ~560 cells, with some new cells generated and some cells go through programmed cell death. The stage that embryo starts elongation till elongation is over." "WBls:0000015" "A quantitative measurement of the total amount of sodium present in a sample of urine." "PMID:31085678" - "A pyridinemonocarboxylic acid that is pyridine in which the hydrogen at position 3 is replaced by a carboxy group." "PMID:15183629 PMID:16322787 PMID:16767301 PMID:8423912 PMID:19369827 PMID:182198 PMID:16400392 PMID:4033386 PMID:33932650 KNApSAcK:C00000208 PMID:22458880 Reaxys:109591 PMID:186078 PMID:12563315 CAS:59-67-6 PMID:24029555 PMID:582105 PMID:16449845 PMID:9107536 PMID:20979384 PMID:34117670 PDBeChem:NIO PMID:15627518 Chemspider:913 PMID:24675661 KEGG:C00253 LINCS:LSM-4676 PMID:34066686 PMID:24848081 KEGG:D00049 PMID:22116693 PMID:18996527 PMID:15311728 PMID:22155410 Beilstein:109591 PMID:7581845 PMID:8306147 PMID:25241762 PMID:25040591 PMID:14550884 FooDB:FDB001014 AGR:IND607088605 Wikipedia:Niacin PMID:19779335 PMID:16018787 PMID:22770225 PMID:18037924 PMID:10540864 PMID:699281 Drug_Central:2835 PMID:22229411 PMID:19592242 PMID:16877271 PMID:16945375 PMID:22366213 PMID:32954525 DrugBank:DB00627 PMID:24568240 PMID:16172771 PMID:15651982 PMID:4259917 PMID:12789870 PMID:21632263 PMID:15037193 PMID:24975217 PMID:8679452 HMDB:HMDB0001488 PMID:33273654 Gmelin:3340 PMID:18993152 PMID:113218 PMID:15205990 PMID:19678716 PMID:34085526 PMID:135660 PMID:25429652 PMID:7217784 MetaCyc:NIACINE" + "A pyridinemonocarboxylic acid that is pyridine in which the hydrogen at position 3 is replaced by a carboxy group." "PMID:15183629 PMID:16322787 PMID:16767301 PMID:8423912 PMID:19369827 PMID:182198 PMID:16400392 PMID:4033386 PMID:33932650 KNApSAcK:C00000208 PMID:22458880 Reaxys:109591 PMID:186078 PMID:12563315 CAS:59-67-6 PMID:24029555 PMID:582105 PMID:16449845 PMID:9107536 PMID:20979384 PMID:34117670 PDBeChem:NIO PMID:15627518 Chemspider:913 PMID:24675661 KEGG:C00253 LINCS:LSM-4676 PMID:34066686 PMID:24848081 KEGG:D00049 PMID:22116693 PMID:18996527 PMID:15311728 PMID:22155410 PMID:7581845 PMID:8306147 PMID:25241762 PMID:25040591 PMID:14550884 FooDB:FDB001014 AGR:IND607088605 Wikipedia:Niacin PMID:19779335 PMID:16018787 PMID:22770225 PMID:18037924 PMID:10540864 PMID:699281 Drug_Central:2835 PMID:22229411 PMID:19592242 PMID:16877271 PMID:16945375 PMID:22366213 PMID:32954525 DrugBank:DB00627 PMID:24568240 PMID:16172771 PMID:15651982 PMID:4259917 PMID:12789870 PMID:21632263 PMID:15037193 PMID:24975217 PMID:8679452 HMDB:HMDB0001488 PMID:33273654 Gmelin:3340 PMID:18993152 PMID:113218 PMID:15205990 PMID:19678716 PMID:34085526 PMID:135660 PMID:25429652 PMID:7217784 MetaCyc:NIACINE" "The amount of a 2',3'-cyclic-nucleotide 3'-phosphodiesterase when measured in blood serum." "Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders ) that affects the eyes. In the early stages, people with OCPgenerally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drainage. If left untreated, OCP can progress to severe conjunctiva scarring and vision loss. Involvement of other mucosal sites and the skin may also occur in OCP. The exact underlying cause is currently unknown. The treatment of OCP aims to slow disease progression and prevent complications. This usually involves long-term use of medications called immunomodulators which help regulate or normalize the immune system.[9044][9045] [ https://rarediseases.info.nih.gov/diseases/8759/ocular-cicatricial-pemphigoid ]" "Orphanet:99922 UMLS:C1282359 NCIT:C84939 MEDGEN:266181 SCTID:314757003 icd11.foundation:953963439 NCIt:C84939 MedDRA:10067776 ICD10EXP:H13.3* GARD:8759 ICD10EXP:L12+ MONDO:0008109 SCTID:34250006 OMIM:164185" "Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon." "NANDO:1200447 DOID:0060190 MEDGEN:184943 MONDO:0005534 UMLS:C0949272 MedDRA:10062647" @@ -42408,7 +42076,7 @@ "Delayed myelination." "UMLS:C1277241 SNOMEDCT_US:135810007" "A large raphe nucleus extending from the anterior part of the pons through the mesencephalon; its neurons are serotoninergic[NIF]. The dorsal raphe nucleus is a part of the raphe nucleus and consists of rostral and caudal subdivisions. The rostral aspect of the dorsal raphe is further divided into interfascicular, ventral, ventrolateral and dorsal subnuclei. The projections of the dorsal raphe have been found to vary topographically, and thus the subnuclei differ in their projections. An increased number of cells in the lateral aspects of the dorsal raphe is characteristic of humans and other primates. [WP,unvetted]." "ZFA:0000366 Wikipedia:Dorsal_raphe_nucleus MBA:872 FMA:68462 neuronames:512 MESH:D065847 MA:0002980 BAMS:DR TAO:0000366 HBA:9457 DHBA:12223 BTO:0002434 BIRNLEX:982 EFO:0001919 UMLS:C0175392 EMAPA:35293 BM:MB-DR" - "A triamine that is the 1,5,10-triaza derivative of decane." "PMID:6156039 HMDB:HMDB0001257 PMID:30306826 Reaxys:1698591 Gmelin:454510 KEGG:C00315 CAS:124-20-9 Beilstein:1698591 PMID:1176793 MetaCyc:SPERMIDINE PMID:22770225 PMID:7350997 PDBeChem:SPD LINCS:LSM-37075 DrugBank:DB03566 KNApSAcK:C00001431 PMID:19801973 PMID:516181 Wikipedia:Spermidine" + "A triamine that is the 1,5,10-triaza derivative of decane." "PMID:6156039 HMDB:HMDB0001257 PMID:30306826 Reaxys:1698591 Gmelin:454510 KEGG:C00315 CAS:124-20-9 PMID:1176793 MetaCyc:SPERMIDINE PMID:22770225 PMID:7350997 PDBeChem:SPD LINCS:LSM-37075 DrugBank:DB03566 KNApSAcK:C00001431 PMID:19801973 PMID:516181 Wikipedia:Spermidine" "Quantification of the amount of lignoceroylcarnitine (C24) in a sample." "PMID:35347128" "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antimetabolite stimulus. An antimetabolite is a substance which is structurally similar to a metabolite but which competes with it or replaces it, and so prevents or reduces its normal utilization." "a sample specimen consisting of exactly 1 cell" @@ -42449,7 +42117,6 @@ "The chemical reactions and pathways involving any phosphorylated nucleoside." "The amount of a septin-1 when measured in blood." "PMID:37794183" - "An exfoliative disease of skin seen primarily in adults and characterized by flaccid bullae and spreading erythema so that the skin has the appearance of being scalded. It results primarily from a toxic reaction to various drugs, but occasionally occurs as a result of infection, neoplastic conditions, or other exposure." "icd11.foundation:195467267 NCIt:C79777 MEDGEN:4501 NCIT:C79777 SCTID:23067006 ICD9:695.15 UMLS:C0014518 NANDO:1200246 MedDRA:10044223 NANDO:2201007 MONDO:0019810 Orphanet:95455 icd11.foundation:1575072695 MedDRA:10043221 GARD:7743" "human pancreatic carcinoma cell line" "A rare, serous adenocarcinoma that diffusely involves the pelvic peritoneum seen predominantly in elderly postmenopausal women. Exclusion of serous carcinoma arising from the ovary and fimbrial end of fallopian tube is required to diagnose the above entity." "UMLS:C1514429 NCIT:C40023 EFO:1000494 MEDGEN:269517 MONDO:0006386" "ICD10:Q87.3 UMLS:CN201629 Orphanet:238613" @@ -42709,7 +42376,7 @@ "Orphanet:254531 MEDGEN:1842839 UMLS:C5680721 GARD:17222" "Any tooth agenesis in which the cause of the disease is a mutation in the WNT10A gene." "MESH:C563634 MEDGEN:372057 UMLS:C1835492 GARD:18245 OMIM:150400" "The amount of a casein kinase II subunit beta when measured in blood serum." - "The elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens." "Wikipedia:Epididymis FMA:18255 MAT:0000130 BTO:0000408 galen:Epididymis SCTID:181432000 CALOHA:TS-0285 EFO:0000982 UMLS:C0014533 GAID:397 EMAPA:19290 MA:0000397 MESH:D004822 VHOG:0001265 EV:0100103 NCIT:C12328 MIAA:0000130" + "The elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens." "Wikipedia:Epididymis MAT:0000130 FMA:18255 BTO:0000408 galen:Epididymis SCTID:181432000 CALOHA:TS-0285 EFO:0000982 UMLS:C0014533 GAID:397 EMAPA:19290 MA:0000397 MESH:D004822 VHOG:0001265 EV:0100103 NCIT:C12328 MIAA:0000130" "Denotes a person having origins in any of the original peoples of Hawaii, a person from there, or their descendants elsewhere." "NCIt:C43394" "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the ATP6AP1 gene." "OMIM:300972 MEDGEN:934786 DOID:0112002 UMLS:C4310819" @@ -42860,7 +42527,7 @@ "A IgG4-related disease that involves the eye." "MEDGEN:1800432 Orphanet:449563 GARD:21885 UMLS:C5569009" "Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal." "UMLS:C0265493 icd11.foundation:1813923633 NORD:899 DECIPHER:42 SCTID:26445008 Orphanet:195 MEDGEN:120543 NCIT:C75477 MESH:C535918 GARD:26 OMIM:115470" - "The conducting airway of the lungs found terminal to the bronchi; these structures contain neither cartilage nor mucous-secreting glands; the epithelium of the bronchioles becomes thinner with each branching." "EHDAA:8171 EHDAA:8199 Wikipedia:Bronchiole MESH:D055745 SCTID:278982001 UMLS:C0006270 FMA:7410 CALOHA:TS-2003 EMAPA:32697 VHOG:0000675 MA:0000422 EHDAA:8183 NCIT:C12684 BTO:0002375 EHDAA:8221" + "The conducting airway of the lungs found terminal to the bronchi; these structures contain neither cartilage nor mucous-secreting glands; the epithelium of the bronchioles becomes thinner with each branching." "EHDAA:8171 EHDAA:8199 Wikipedia:Bronchiole MESH:D055745 SCTID:278982001 UMLS:C0006270 FMA:7410 CALOHA:TS-2003 VHOG:0000675 EMAPA:32697 MA:0000422 EHDAA:8183 NCIT:C12684 BTO:0002375 EHDAA:8221" "Any process involved in the maintenance of an internal steady state of sodium ions within an organism or cell." "Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." "icd11.foundation:157300879 GARD:10474 MEDGEN:369786 UMLS:C1963674 Orphanet:98761 OMIM:603516 DOID:0050960 SCTID:715754007 MESH:C566874" "The amount of a phosphoglycerate kinase 2 when measured in blood serum." @@ -42871,7 +42538,7 @@ "Quantification of urotensin-2 receptor in a sample." "PMID:29875488" "An assay in which DNA is the input molecule derived from a micrococcal nuclease digestion followed by high throughput sequencing, A method that distinguishes nucleosome positioning based on the ability of nucleosomes to protect associated DNA from digestion by micrococcal nuclease. Sequenced fragments reveal nucleosome location information about the input DNA." - "A tricarboxylic acid that is propane-1,2,3-tricarboxylic acid bearing a hydroxy substituent at position 2. It is an important metabolite in the pathway of all aerobic organisms." "PMID:22264346 PMID:17357118 PMID:15311880 PMID:16232627 PMID:17190852 KEGG:D00037 PMID:22373571 MetaCyc:CIT KEGG:C00158 PMID:19288211 PMID:17604395 Beilstein:782061 Gmelin:4240 PMID:22115968 PDBeChem:CIT PMID:11782123 PMID:18298573 PMID:14537820 PMID:18960216 Drug_Central:666 PMID:11857437 PMID:22509852 PMID:22192423 HMDB:HMDB0000094 KNApSAcK:C00007619 PMID:11762832 DrugBank:DB04272 CAS:77-92-9 PMID:15934243 Wikipedia:Citric_Acid BPDB:1359 Reaxys:782061" + "A tricarboxylic acid that is propane-1,2,3-tricarboxylic acid bearing a hydroxy substituent at position 2. It is an important metabolite in the pathway of all aerobic organisms." "PMID:22264346 PMID:17357118 PMID:15311880 PMID:16232627 PMID:17190852 KEGG:D00037 PMID:22373571 MetaCyc:CIT KEGG:C00158 PMID:19288211 PMID:17604395 Gmelin:4240 PMID:22115968 PDBeChem:CIT PMID:11782123 PMID:18298573 PMID:14537820 PMID:18960216 Drug_Central:666 PMID:11857437 PMID:22509852 PMID:22192423 HMDB:HMDB0000094 KNApSAcK:C00007619 PMID:11762832 DrugBank:DB04272 CAS:77-92-9 PMID:15934243 Wikipedia:Citric_Acid BPDB:1359 Reaxys:782061" "A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions." "GARD:18749 ICD10CM:G24.5 UMLS:C5680914 Orphanet:1866 MEDGEN:1842644" "Orphanet:309028 icd11.foundation:1858691234" "A benign or malignant neoplasm that affects the ureter." "OMIM:191600 MONDO:0021111 SCTID:126882009 ICD9:239.5 MeSH:D014516 NCIt:C3427 MEDGEN:12011 NCIT:C3427 DOID:11819 MedDRA:10062221 UMLS:C0041955" @@ -42957,10 +42624,10 @@ "The amount of a DCN1-like protein 3 when measured in blood serum." "OMIM:620663 UMLS:C5882737 MEDGEN:1844202" "A plasmablast that secretes IgD, and which occur in a small proportion of B cells in the adult." - "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, and throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts." "ICD9:078.11 NCIT:C4820 DOID:11168 UMLS:C0554632 MONDO:0005647 MEDGEN:108217 MeSH:D003218 SCTID:266113007 MESH:D003218" "The amount of a alpha-amylase 2A when measured in blood." "PMID:37794183" "Is the quantification of is the maximum capacity of an individual's body to transport and use oxygen during incremental exercise, and is used as an indicator of physical fitness" "UMLS:C5436933 GARD:16429 OMIM:619166 MEDGEN:1742371" + "An instrument used to chemically synthesize oligonucleotides."@en "MO:930" "An instrument used to chemically synthesize oligonucleotides." "MO:930" "The amount of a prostate stem cell antigen when measured in blood." "PMID:37794183" "A lymphatic system disease that is characterized by inflammation of the lymphatic channels which occurs as a result of infection at a site distal to the channel. It is caused by Streptococcus pyogenes (Group A strep) or Staphylococcus aureus. Lymphangitis is also sometimes called blood poisoning." "MESH:D008205 ICD10CM:I89.1 UMLS:C0024225 MedDRA:10025226 NCIT:C34790 SCTID:1415005 ICD9:457.2 DOID:9317 MEDGEN:7412 icd11.foundation:1548743622 MONDO:0005832 MeSH:D008205" @@ -42997,7 +42664,7 @@ "quantification of the change in viral disease status in response to treatment" "PMID:25461247" "Bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma." "ICD9:431 MEDGEN:423648 ICD10:I61 MESH:D002543 MONDO:0013792 UMLS:C2937358 SCTID:274100004 OMIM:614519 MedDRA:10022754" "Stones in the URINARY BLADDER; also known as vesical calculi, bladder stones, or cystoliths." "SNOMEDCT:70650003 MONDO:0006678 MESH:D001744 UMLS:C0005683 DOID:11355 MEDGEN:14149 MedDRA:10005001 MeSH:D001744 ICD9:594.1 SCTID:70650003 NCIt:C26707" - "A nitrosamine that is N-ethylethanamine substituted by a nitroso group at the N-atom." "Reaxys:1744991 Beilstein:1744991 PMID:24755254 PMID:24696076 KEGG:C14422 CAS:55-18-5" + "A nitrosamine that is N-ethylethanamine substituted by a nitroso group at the N-atom." "Reaxys:1744991 PMID:24755254 PMID:24696076 KEGG:C14422 CAS:55-18-5" "A racemate consisting of equimolar amounts of (2R,4S)- and (2S,4R)-ketoconazole." "Patent:DE2804096 Beilstein:4303081 HMDB:HMDB0012242 Gmelin:1713206 CAS:65277-42-1 Patent:US4144346 KEGG:D00351 DrugBank:DB01026" "An inflorescence (PO:0009049) that includes as part only pistillate flowers (PO:0025599)." "A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDNRB." "MEDGEN:341244 GARD:15245 DOID:0110953 UMLS:C1848519 OMIM:277580" @@ -43047,7 +42714,7 @@ "The amount of a ephrin type-A receptor 6 when measured in blood serum." "Adrenergic uptake inhibitors are drugs that block the transport of adrenergic transmitters into axon terminals or into storage vesicles within terminals. The tricyclic antidepressants and amphetamines are among the therapeutically important drugs that may act via inhibition of adrenergic transport. Many of these drugs also block transport of serotonin." "MeSH:D018759" - "A racemate comprising equimolar amounts of (R)- and (S)-omeprazole." "PMID:15774534 PMID:16276979 PMID:11459434 PMID:15598025 PMID:19434360 PMID:11962536 Patent:US5693818 PMID:12235248 PMID:15684503 VSDB:1827 PMID:18571645 PMID:19327607 PMID:11774962 PMID:19746659 PMID:15004262 PMID:13680386 Patent:EP5129 PMID:11568514 PMID:11851112 PMID:16998872 PMID:16397810 PMID:11321383 PMID:19150046 PMID:12683615 PMID:11060758 PMID:15586641 PMID:16129922 PMID:19801857 DrugBank:DB00338 PMID:12135028 PMID:11807212 PMID:18366242 PMID:19796313 PMID:14708212 PMID:19166730 PMID:18498918 PMID:12495367 PMID:12072663 PMID:16380990 PMID:17384694 PMID:18818790 PMID:11210716 PMID:11903739 Patent:US4255431 PMID:16440530 PMID:16080278 PMID:18520598 Reaxys:3628192 PMID:14616415 PMID:18616070 PMID:14725575 PMID:17532167 PMID:19383986 CAS:73590-58-6 PMID:15125696 KEGG:D00455 PMID:19470853 PMID:19176055 PMID:18793272 PMID:18416943 PMID:18294333 PMID:11404722 PMID:17049542 PMID:11700946 PMID:16386527 KEGG:C07324 PMID:11304936 Wikipedia:Omeprazole PMID:15707461 PMID:11208500 PMID:19517893 PMID:11395292 PMID:18448060 PMID:16259581 Beilstein:3628192 PMID:19937171 PMID:19236757" + "A racemate comprising equimolar amounts of (R)- and (S)-omeprazole." "PMID:15774534 PMID:16276979 PMID:11459434 PMID:15598025 PMID:19434360 PMID:11962536 Patent:US5693818 PMID:12235248 PMID:15684503 VSDB:1827 PMID:18571645 PMID:19327607 PMID:11774962 PMID:19746659 PMID:15004262 PMID:13680386 Patent:EP5129 PMID:11568514 PMID:11851112 PMID:16998872 PMID:16397810 PMID:11321383 PMID:19150046 PMID:12683615 PMID:11060758 PMID:15586641 PMID:16129922 PMID:19801857 DrugBank:DB00338 PMID:12135028 PMID:11807212 PMID:18366242 PMID:19796313 PMID:14708212 PMID:19166730 PMID:18498918 PMID:12495367 PMID:12072663 PMID:16380990 PMID:17384694 PMID:18818790 PMID:11210716 PMID:11903739 Patent:US4255431 PMID:16440530 PMID:16080278 PMID:18520598 Reaxys:3628192 PMID:14616415 PMID:18616070 PMID:14725575 PMID:17532167 PMID:19383986 CAS:73590-58-6 PMID:15125696 KEGG:D00455 PMID:19470853 PMID:19176055 PMID:18793272 PMID:18416943 PMID:18294333 PMID:11404722 PMID:17049542 PMID:11700946 PMID:16386527 KEGG:C07324 PMID:11304936 Wikipedia:Omeprazole PMID:15707461 PMID:11208500 PMID:19517893 PMID:11395292 PMID:18448060 PMID:16259581 PMID:19937171 PMID:19236757" "MeSH:D031187 NCIt:C72276" "Delirium that occurs after surgery." "PMID:30678657" @@ -43145,7 +42812,7 @@ "Quantification of the amount of X-11247 in a sample." "PMID:24816252" "A squamous cell carcinoma of the bladder arising from metaplastic epithelium. It represents less than 10% of bladder carcinomas. The exception is the Middle East along the Nile Valley, where it represents the most common form of carcinoma because of the endemic nature of schistosomiasis. Bladder squamous cell carcinoma is often associated with long-standing chronic inflammation of the bladder and usually has a poor prognosis. The diagnosis of squamous cell carcinoma of the bladder should be reserved for those tumors that are predominantly keratin forming." "ONCOTREE:BLSC SCTID:255111004 MONDO:0002760 EFO:1000130 DOID:3742 UMLS:C0279681 NCIT:C4031 MEDGEN:124645" "Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive." "MEDGEN:324684 MESH:C563825 DOID:0112300 GARD:10647 Orphanet:85167 OMIM:608940 UMLS:C1837073" - "A C18, long straight-chain monounsaturated fatty acid anion; and the conjugate base of oleic acid, arising from deprotonation of the carboxylic acid group." "Gmelin:344067 PMID:12429352 Beilstein:1913148 CAS:115-06-0 Reaxys:1913148" + "A C18, long straight-chain monounsaturated fatty acid anion; and the conjugate base of oleic acid, arising from deprotonation of the carboxylic acid group." "Gmelin:344067 PMID:12429352 CAS:115-06-0 Reaxys:1913148" "Multi-tissue structure that is the ventral-most aspect of the developing neural tube. The floor plate is a specialized glial structure that spans the rostral-caudal axis from the midbrain to the tail regions." "ZFA:0000022" "A rare squamous cell carcinoma that arises from the cornea." "NCIT:C4552 DOID:13538 SCTID:255008003 MEDGEN:91102 UMLS:C0346366" "The amount of a COMM domain-containing protein 9 when measured in blood." "PMID:37794183" @@ -43173,7 +42840,7 @@ "A lineage negative, Sca1-negative basophil progenitor cell that is Fc epsilon RIalpha-high." "The external elements and conditions which surround, influence, and affect the life and development of an organism or population." "A malignant neoplasm involving the adrenal gland" "ICD9:239.7 UMLS:C0750887 ICD9:194.0 SCTID:127021009 DOID:3953 MESH:D000310 MEDGEN:152909 NCIT:C9338" - "a material separation process in which cells that stick to the container in which they are grown as a cell culture are separated from those in the liquid component of the culture. The output of this process are adherent cells." + "a material separation process in which cells that stick to the container in which they are grown as a cell culture are separated from those in the liquid component of the culture. The output of this process are adherent cells."@en "The vocal apparatus of the larynx, which includes the vocal cords and the opening between them." "FMA:55414 BTO:0001627 MA:0002788 SCTID:264482000 MESH:D005931 UMLS:C0017681 Wikipedia:Glottis AAO:0010610 GAID:343 NCIT:C12724" "Quantification of sulfoacetate in blood plasma." "KEGG COMPOUND:C14179" "Quantification of E3 ubiquitin-protein ligase RNF114 in a sample." "PMID:29875488" @@ -43264,7 +42931,6 @@ "1: The part of the mammalian body between the neck and the abdomen; also: its cavity in which the heart and lungs lie.n2: The middle of the three chief divisions of the body of an insect; also: the corresponding part of a crustacean or an arachnid." "TGMA:000136 BTO:0001368 EV:0100010 SAEL:106 FBbt:00000015 MAT:0000295 FMA:9576" "A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells." "SCTID:205649008 UMLS:C0432412 MESH:C537942 NCIT:C36396 MEDGEN:98158" - "a neuroblastoma associated with increased dopamine excretion." "PMID:3385588 MONDO:0005598" "ICD10:G23.0 OMIM:606693 UMLS:C1847640" "A short lived plasma cell that secretes IgM." "Any isolated ectopia lentis in which the cause of the disease is a mutation in the FBN1 gene." "OMIM:129600 GARD:15062 DOID:0111150 UMLS:C3541518 MEDGEN:762106" @@ -43449,7 +43115,7 @@ "A property of a cell which is no longer pluripotent" "Bleeding in the anterior chamber of the eye." "UMLS:C0020581 SNOMEDCT_US:75229002" "Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium." "UMLS:C4083076 Fyler:4335 UMLS:C4280664 UMLS:C4255213 UMLS:C4280663" - "An ethylenediamine derivative that is ethane-1,2-diamine in which one hydrogen attached to each of the nitrogens is sutstituted by a 1-hydroxybutan-2-yl group (S,S-configuration). It is a bacteriostatic antimycobacterial drug, effective against Mycobacterium tuberculosis and some other mycobacteria. It is used (as the dihydrochloride salt) in combination with other antituberculous drugs in the treatment of pulmonary and extrapulmonary tuberculosis; resistant strains of M. tuberculosis are readily produced if ethambutol is used alone." "PMID:16759086 PMID:10966749 PMID:17851083 KEGG:D07925 PMID:17315960 DrugBank:DB00330 PMID:10891117 PMID:14695841 PMID:17331717 PMID:19524332 PMID:3934384 PMID:10649975 PMID:19648006 Wikipedia:Ethambutol PMID:17562368 PMID:17276683 Reaxys:6312870 Drug_Central:1073 PMID:14698152 PMID:12182855 Beilstein:6312870 PMID:16005211 KEGG:C06984 PMID:17239593 CAS:74-55-5 PMID:17210775 PMID:16870429 PMID:15225698 PMID:17888665" + "An ethylenediamine derivative that is ethane-1,2-diamine in which one hydrogen attached to each of the nitrogens is sutstituted by a 1-hydroxybutan-2-yl group (S,S-configuration). It is a bacteriostatic antimycobacterial drug, effective against Mycobacterium tuberculosis and some other mycobacteria. It is used (as the dihydrochloride salt) in combination with other antituberculous drugs in the treatment of pulmonary and extrapulmonary tuberculosis; resistant strains of M. tuberculosis are readily produced if ethambutol is used alone." "PMID:16759086 PMID:10966749 PMID:17851083 KEGG:D07925 PMID:17315960 DrugBank:DB00330 PMID:10891117 PMID:14695841 PMID:17331717 PMID:19524332 PMID:3934384 PMID:10649975 PMID:19648006 Wikipedia:Ethambutol PMID:17562368 PMID:17276683 PMID:14698152 Drug_Central:1073 Reaxys:6312870 PMID:12182855 PMID:16005211 KEGG:C06984 PMID:17239593 CAS:74-55-5 PMID:17210775 PMID:16870429 PMID:15225698 PMID:17888665" "The amount of a sialidase-1 when measured in blood serum." "Quantification of total cholesterol in small LDL." @@ -43539,7 +43205,7 @@ "Quantification of manganese in a blood sample" "A malignant mesenchymal neoplasm arising from adipocytes." "ICD9:171.9 DOID:3939 SCTID:254828009 NCIT:C4501" "The amount of a stanniocalcin-2 when measured in blood serum." - "A racemate comprising equimolar amounts of (R) and (S)-malathion. It is a broad spectrum organophosphate proinsecticide used to control a wide range of pests including Coleoptera, Diptera, fruit flies, mosquitos and spider mites." "PMID:16083681 PMID:19399610 PMID:28950791 Reaxys:1804525 PMID:29792547 PMID:29235025 CAS:121-75-5 Wikipedia:Malathion PMID:29852369 Beilstein:1804525 KEGG:C07497 KEGG:D00534 DrugBank:DB00772 Drug_Central:1626" + "A racemate comprising equimolar amounts of (R) and (S)-malathion. It is a broad spectrum organophosphate proinsecticide used to control a wide range of pests including Coleoptera, Diptera, fruit flies, mosquitos and spider mites." "PMID:16083681 PMID:19399610 PMID:28950791 Reaxys:1804525 PMID:29792547 PMID:29235025 CAS:121-75-5 Wikipedia:Malathion PMID:29852369 KEGG:C07497 KEGG:D00534 DrugBank:DB00772 Drug_Central:1626" "The amount of a NEDD4-like E3 ubiquitin-protein ligase WWP2 when measured in blood serum." "MEDGEN:483580 OMIM:184450 UMLS:C3489627" "A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray." "UMLS:C4721788" @@ -43569,7 +43235,7 @@ "SNOMEDCT:21509009" "Quantification of phospholipids in large LDL." "The amount of a histone-lysine N-methyltransferase KMT5C when measured in blood serum." - "An icosatrienoic acid having three cis double bonds at positions 8, 11 and 14." "Reaxys:1913514 CAS:1783-84-2 PMID:3781468 KEGG:C03242 PMID:9668087 HMDB:HMDB0002925 Beilstein:1913514 DrugBank:DB00154 LIPID_MAPS_instance:LMFA01030158 PDBeChem:LAX" + "An icosatrienoic acid having three cis double bonds at positions 8, 11 and 14." "Reaxys:1913514 CAS:1783-84-2 PMID:3781468 KEGG:C03242 PMID:9668087 HMDB:HMDB0002925 DrugBank:DB00154 LIPID_MAPS_instance:LMFA01030158 PDBeChem:LAX" "A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas." "ICD10CM:C65 ICD10:C65 ICD9:189.1 EFO:0005582 NCIT:C6142 UMLS:C1335749 MEDGEN:235548 MONDO:0005519 UMLS:C0153618 SCTID:363457009 DOID:4919" "Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG)." "DOID:2843 SNOMEDCT:111975006 ICD9:426.82 MeSH:D008133 UMLS:C0023976 SNOMEDCT_US:111975006 NCIt:C34786 UMLS:C0151878" @@ -43711,7 +43377,7 @@ "A sarcoma arising from vascular tissue including arteries, veins, venous sinuses, arterioles and capillaries." "NCIt:C8538" "UMLS:C0002447 MedDRA:10001926 ICD10:Q73.0" "An infectious or non-infectious inflammatory process affecting the prostate gland." "NCIt:C26866 ICD9:601 DOID:14654 NCIT:C26866 MESH:D011472 MedDRA:10036978 HP:0000024 ICD9:601.4 MONDO:0005280 MeSH:D011472 ICD9:601.9 MedDRA:10036982 ICD9:601.8 MEDGEN:10965 SCTID:9713002 ICD10:N41 SNOMEDCT:9713002 UMLS:C0033581" - "A cholestanoid consisting of cholestane having a double bond at the 5,6-position as well as a 3beta-hydroxy group." "LIPID_MAPS_instance:LMST01010001 PMID:25522988 HMDB:HMDB0000067 KEGG:D00040 SNOMEDCT:84698008 PMID:24287311 PMID:11412894 PMID:25451949 NCIt:C369 KEGG:C00187 Wikipedia:Cholesterol KNApSAcK:C00003648 MetaCyc:CHOLESTEROL PMID:16341241 Gmelin:550297 CAS:57-88-5 PMID:10901445 PMID:4696527 Reaxys:2060565 PMID:25977713 DrugBank:DB04540 PMID:25658343 MeSH:D002784 PMID:25308664 Beilstein:2060565 PDBeChem:CLR PMID:8838010" + "A cholestanoid consisting of cholestane having a double bond at the 5,6-position as well as a 3beta-hydroxy group." "LIPID_MAPS_instance:LMST01010001 PMID:25522988 HMDB:HMDB0000067 KEGG:D00040 SNOMEDCT:84698008 PMID:24287311 PMID:11412894 PMID:25451949 NCIt:C369 KEGG:C00187 Wikipedia:Cholesterol KNApSAcK:C00003648 MetaCyc:CHOLESTEROL PMID:16341241 Gmelin:550297 CAS:57-88-5 PMID:10901445 PMID:4696527 Reaxys:2060565 PMID:25977713 DrugBank:DB04540 PMID:25658343 MeSH:D002784 PMID:25308664 PDBeChem:CLR PMID:8838010" "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." "OMIM:230800 UMLS:C1961835 NANDO:1200057 NANDO:2201210 SCTID:62201009 MEDGEN:409531 Orphanet:77259 DOID:0110957 GARD:2441" "The amount of a lysozyme g-like protein 1 when measured in blood serum." "Quantification of the amount of C30:0 phosphatidylcholine in a sample." "PMID:35995766" @@ -43741,7 +43407,6 @@ "The amount of a Phosphatidylcholine (15:0_18:1) when measured in blood serum." - "Chronic delayed gastric emptying. Gastroparesis may be caused by motor dysfunction or paralysis of STOMACH muscles or may be associated with other systemic diseases such as DIABETES MELLITUS." "NCIt:C80512 UMLS:C0152020 SCTID:196753007 DOID:11914 MONDO:0006769 MeSH:D018589 MedDRA:10018043 HP:0002578 icd11.foundation:598423727 MEDGEN:101809 SNOMEDCT:235675006 ICD9:536.3 ICD10CM:K31.84 MESH:D018589" "The amount of a Ras-related protein Rab-31 when measured in blood serum." "Quantification of the amount of 3-bromo-5-chloro-2,6-dihydroxybenzoic acid in a sample." "PMID:35347128" "Distance between the tips of the longest fingers with the arms maximally outstretched laterally." @@ -43887,7 +43552,6 @@ "A deep muscle of the triceps surae group, in the superficial posterior compartment of the leg." "MA:0002424 galen:Soleus UMLS:C0242694 EMAPA:35786 NCIT:C53075 Wikipedia:Soleus_muscle EFO:0001946 SCTID:181702007 FMA:22542 BTO:0001265" "A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-positive." - "A kidney cancer that is found in the kidney and is usually found before birth by ultrasound or within the first 3 months of life." "DOID:4772 MEDGEN:64620 ICD9:236.99 MeSH:D018201 MESH:D018201 UMLS:C0206628 MedDRA:10070665 MONDO:0003130 SCTID:307604008" "Orphanet:251651" "A craniosynostosis that is part of a larger syndrome." "GARD:19911 Orphanet:139393 UMLS:C5680624 MEDGEN:1842203" "A palatal bone which -- like many palatal bones -- may originally have developed as a dermal bone replacing part of the palatoquadrate, the primitive upper jaw. Like the palatine (also called dermopalatine), the ectopterygoid replaces the middle part of the autopalatine. It may be serially homologous with the palatine(s), but is somewhat specialized, being the last (most posterior in palatal view) of the series and bordering the fossa for the jaw muscles. In a typical tetrapod it abuts the palatine anteriorly, the maxilla laterally, the pterygoid or the fossa mandubuaris medially, and the fossa posteriorly." "ZFA:0000656 EFO:0003552 TAO:0000656" @@ -43919,7 +43583,7 @@ "The amount of a myotrophin when measured in blood." "PMID:37794183" "High blood pressure caused by an underlying medical condition." "MedDRA:10039839 SCTID:31992008 DOID:11130 MedDRA:10039837 ICD9:405 icd11.foundation:1331849426 ICD9:405.99 MONDO:0001200 MEDGEN:57609 MedDRA:10039834 MedDRA:10039838 ICD9:405.9 UMLS:C0155616" - "A C21-steroid hormone in which a pregnane skeleton carries oxo substituents at positions 3 and 20 and is unsaturated at C(4)-C(5). As a hormone, it is involved in the female menstrual cycle, pregnancy and embryogenesis of humans and other species." "Drug_Central:2279 CAS:57-83-0 KEGG:C00410 PMID:10438974 KEGG:D00066 MetaCyc:PROGESTERONE DrugBank:DB00396 PMID:9506942 HMDB:HMDB0001830 SNOMEDCT:16683002 NCIt:C2297 PDBeChem:STR Wikipedia:Progesterone Reaxys:1915950 Beilstein:1915950 MeSH:D011374 Gmelin:708590" + "A C21-steroid hormone in which a pregnane skeleton carries oxo substituents at positions 3 and 20 and is unsaturated at C(4)-C(5). As a hormone, it is involved in the female menstrual cycle, pregnancy and embryogenesis of humans and other species." "Drug_Central:2279 CAS:57-83-0 KEGG:C00410 PMID:10438974 KEGG:D00066 MetaCyc:PROGESTERONE DrugBank:DB00396 PMID:9506942 HMDB:HMDB0001830 SNOMEDCT:16683002 NCIt:C2297 PDBeChem:STR Wikipedia:Progesterone Reaxys:1915950 MeSH:D011374 Gmelin:708590" "A category of mesenchymal gynecologic neoplasms. It includes endometrial stromal nodule, endometrioid stromal sarcoma, and undifferentiated sarcoma. Endometrial stromal nodule has been described in the uterine corpus only. Histologically, it is characterized by the lack of infiltration of the surrounding tissues. Endometrioid stromal sarcoma affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma. Undifferentiated sarcoma was previously also known as high grade endometrial stromal sarcoma. In 2014, high grade endometrial stromal sarcoma was reclassified and is currently considered a distinct and rare neoplasm that affects the uterine corpus only. It appears to have a prognosis that falls between low grade endometrial stromal sarcoma and undifferentiated sarcoma. The latter affects the uterine corpus and rarely the remainder of the anatomic sites." "UMLS:C4287868 NCIT:C8384 MEDGEN:925400" "Chromosomal disorder in which chromosome 3 is affected." "An epithelial neoplasm morphologically characterized by the presence of a villous architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features. It may also arise in the urinary bladder, urethra, and vagina." "UMLS:C0206674 DOID:0050869 MEDGEN:60206 MESH:D018253 NCIT:C7399 ICDO:8261/0" @@ -43963,7 +43627,6 @@ "A soft tissue continuity in the anteroposterior axis between the second to the third fingers that extends distally to at least the level of the proximal interphalangeal joints." "UMLS:C0432055 SNOMEDCT_US:205139009" "Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities." "NANDO:1200831 UMLS:C1970848 DOID:0111933 OMIM:300653 Orphanet:713 GARD:7389 NORD:1577 MESH:C567067 NCIT:C126738 MEDGEN:410166 icd11.foundation:1396572570" - "A disease that affects the lower respiratory tract." "ICD9:478.1 UMLS:C1290325 SCTID:128272009 MONDO:0000270 DOID:0050161 ICD9:478.19 ICD10:J22 MEDGEN:712703" "Inflammation of the lateral epicondyle." "MEDGEN:4090 MONDO:0001875 SCTID:202855006 DOID:14087 MESH:D013716 UMLS:C0014488 ICD9:726.32 ICD10CM:M77.1 NCIT:C34589 MedDRA:10014971 MedDRA:10018503" "quantification in a plasma sample of the levels of soluble Receptor for Advanced Glycation End-products (sRAGE). sRAGE is a strong markers of vascular outcomes" "ICD10:Q92.3" @@ -43995,13 +43658,13 @@ "Benign and malignant neoplasms of the cerebellum that arise from astrocytes. During childhood the majority are benign pilocytic astrocytomas. In adults both benign and relatively higher grade forms may occur. The most common presenting symptoms are headache, nausea, vomiting, ataxia of gait or limb, paresis, diplopia, and dizziness. Objective signs include weakness, long tract signs, dysmetria, gait ataxia, papilledema, and nystagmus. Surgical resection is often curative." "DOID:4848 NCIT:C9475 UMLS:C0740480 MEDGEN:196631" "The determination of the amount of tropomyosin beta chain in a sample" "PMID:28240269" "ICD10:Q61.5" - "A nitroso compound that is triazane in which the the nitrogen at position 1 is substituted by two 2-aminoethyl groups, that at position 2 is substituted by a hydroxy group, and that at position 3 is substituted by an oxo group." "Beilstein:8139626 PMID:19935078 PMID:12924710 PMID:10471084 PMID:20173509 CAS:146724-94-9 Reaxys:8139626 PMID:19785659 PMID:18512047 PMID:16378139" + "A nitroso compound that is triazane in which the the nitrogen at position 1 is substituted by two 2-aminoethyl groups, that at position 2 is substituted by a hydroxy group, and that at position 3 is substituted by an oxo group." "PMID:19935078 PMID:12924710 PMID:10471084 PMID:20173509 CAS:146724-94-9 Reaxys:8139626 PMID:19785659 PMID:18512047 PMID:16378139" "Quantification of sialylated N-glycans of IgG in a biological sample, typically serum" "PMID:28878392" - "An alpha,omega-dicarboxylic acid in which the two carboxy groups are separated by a single methylene group." "Gmelin:2550 PMID:22770225 DrugBank:DB02175 HMDB:HMDB0000691 LIPID_MAPS_instance:LMFA01170041 KEGG:C00383 PDBeChem:MLA Beilstein:1751370 Reaxys:1751370 KNApSAcK:C00001193 CAS:141-82-2 MetaCyc:MALONATE Wikipedia:Malonic_acid" + "An alpha,omega-dicarboxylic acid in which the two carboxy groups are separated by a single methylene group." "Gmelin:2550 PMID:22770225 DrugBank:DB02175 HMDB:HMDB0000691 LIPID_MAPS_instance:LMFA01170041 KEGG:C00383 PDBeChem:MLA Reaxys:1751370 KNApSAcK:C00001193 CAS:141-82-2 MetaCyc:MALONATE Wikipedia:Malonic_acid" "The amount of a NIF3-like protein 1 when measured in blood serum." "A neurodegenerative disease that involves the eyelid." "SCTID:1112003 ICD9:374.50 MEDGEN:509851 DOID:10120 UMLS:C0155209" "Quantification of the amount of ribitol in a sample." "PMID:35347128" - "A temperature derived unit which is equal to 5/9ths of a kelvin. Negative 40 degrees Fahrenheit is equal to negative 40 degrees Celsius." "SNOMEDCT:257965001 NCIt:C44277 MO:812 SNOMEDCT:257987005" + "A temperature derived unit which is equal to 5/9ths of a kelvin. Negative 40 degrees Fahrenheit is equal to negative 40 degrees Celsius." "NCIt:C44277 SNOMEDCT:257965001 MO:812 SNOMEDCT:257987005" "Acute quadriplegic myopathy (AQM) is a specific acquired myopathy in ICU patients. Patients with AQM are characterized by severe muscle weakness and atrophy of spinal nerve innervated limb and trunk muscles, while cranial nerve innervated craniofacial muscles, sensory and cognitive functions are spared or less affected. The muscle weakness is associated with altered muscle membrane properties and a preferential loss of the motor protein myosin and myosin-associated thick filament proteins. Prolonged mechanical ventilation, muscle unloading, postsynaptic block of neuromuscular transmission, sepsis and systemic corticosteroid hormone treatment have been suggested as important triggering factors in AQM." "MONDO:0004969 MEDGEN:1843474 NCIm:C1135345 ISBN:978-0-387-84846-4 UMLS:C1135345 ISBN:978-0-387-84847-1" "The amount of a Max-like protein X when measured in blood serum." "The amount of a differentially expressed in FDCP 6 when measured in blood serum." @@ -44180,6 +43843,7 @@ "A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located_in tongue, located_in palate, located_in maxilla or located_in mandible." "MONDO:0005887 MESH:D014393 UMLS:C0041323 MEDGEN:52888 ICD9:017.90 MeSH:D014393 MedDRA:10076879 DOID:402 SCTID:235067001 ICD9:528.9" + "An analyte assay in which an input material is mixed with antibodies and bound antigen:antibody complexes are separated out using immunoprecipitation. Either the antibody has known specificy, and the antigen mixture is tested for the presence of a specific antigen, or the antigen solution is well defined and the antibody solution is tested for the presence of antigen specific antibodies."@en "An analyte assay in which an input material is mixed with antibodies and bound antigen:antibody complexes are separated out using immunoprecipitation. Either the antibody has known specificy, and the antigen mixture is tested for the presence of a specific antigen, or the antigen solution is well defined and the antibody solution is tested for the presence of antigen specific antibodies." "The glomerular endothelium is an epithelial tissue that covers the internal surfaces of the glomerulus." "BTO:0004631" "The amount of a heat shock protein 105 kDa when measured in blood serum." @@ -44258,14 +43922,13 @@ "The embryonic kidney, present at the level of the third somite, is composed of two glomeruli fused at the midline, two pronephric tubules, and paired bilateral pronephric ducts that modify the composition of the blood filtrate before delivering it to the cloaca for excretion." "BTO:0001541 MAT:0000117 TAO:0000151 MFO:0003340 EHDAA:1017 EV:3000635 EMAPA:16579 XAO:0002000 ZFA:0000151" "quantification of the presence or severity of an allergy to eggs" "Acute INFLAMMATION in the INTESTINAL MUCOSA of the continent ileal reservoir (or pouch) in patients who have undergone ILEOSTOMY and restorative proctocolectomy (PROCTOCOLECTOMY, RESTORATIVE)." "ICD10CM:K91.850 MedDRA:10036463 MONDO:0005312 Orphanet:217067 MEDGEN:138232 ICD9:569.71 MESH:D019449 GARD:20510 MeSH:D019449 UMLS:C0376620" - "An eye disease where one or both eyeballs are abnormally small." "MeSH:D008850 SCTID:204108000 HP:0000568 NCIt:C98989 ICD9:743.11 DOID:10629 NCIT:C98989 MONDO:0021129 MEDGEN:10033 ICD9:743.10 OMIM:614402 MedDRA:10027547 MESH:D008850 SNOMEDCT:61142002 UMLS:C0026010 ICD9:743.1 OMIM:615972" "Orphanet:371195" "Quantification of the levels of neurofilament light chain, typically in blood or cerebrospinal fluid. Used as a marker of neurodegeneration, in Alzheimer's disease, Amyotrophic Lateral Sclerosis, multiple sclerosis and Huntington's disease." "PMID:29747637" "A portion of chlorenchyma tissue that develops directly from a spore and grows by division of an apical cell to form filaments that are one cell wide and dichotomously branching." "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the NMNAT1 gene." "DOID:0110005 OMIM:608553 ICD10CM:H35.5 MEDGEN:325277 UMLS:C1837873 GARD:9491 MESH:C536603" "A leading cause of inflammatory eye disease is sarcoidosis. Ocular sarcoidosis can involve any part of the eye, and may cause uveitis, scleritis, eyelid abnormalities, conjunctival granuloma, optic neuropathy, lacrimal gland enlargement and orbital inflammation." "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4662043/ MedDRA:10065700" "A very rare syndromic disorder characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema." "ORDO:Orphanet_662 MeSH:D056684 OMIM:153300 icd11.foundation:47812081 SCTID:400211001 DOID:0050468 NCIT:C85238 ICD10:L60.5 MedDRA:10048244 NCIt:C85238 ICD9:757.0 NORD:1874 ICD10CM:L60.5 Orphanet:662 UMLS:C0221348 MESH:D056684 ICD9:703.8 MONDO:0007921 MEDGEN:113164 GARD:184" - "An aspartic acid derivative having an N-methyl substituent and D-configuration." "PMID:8568805 KEGG:C12269 PMID:2170646 PMID:3351864 PMID:10514280 MeSH:D016202 PDBeChem:OEM HMDB:HMDB0002393 Wikipedia:N-Methyl-D-aspartic_acid PMID:10893301 PMID:9572889 Beilstein:1724431 CAS:6384-92-5 PMID:1967316 Reaxys:1724431 MetaCyc:CPD-10705" + "An aspartic acid derivative having an N-methyl substituent and D-configuration." "Reaxys:1724431 MetaCyc:CPD-10705 PMID:8568805 KEGG:C12269 Wikipedia:N-Methyl-D-aspartic_acid PMID:9572889 CAS:6384-92-5 PMID:1967316 PMID:10514280 MeSH:D016202 PMID:3351864 PMID:10893301 HMDB:HMDB0002393 PDBeChem:OEM PMID:2170646" "Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation." "Orphanet:209932 MESH:C563678 SCTID:719455002 UMLS:C1835897 OMIM:610356 MEDGEN:332081 DOID:0081022 GARD:10649 icd11.foundation:545671557" "Quantification of the volume of the inferior temporal gyrus." "PMID:31530798" @@ -44326,7 +43989,7 @@ "Human astrocytoma cell line" "RRID:CVCL_A758" "The amount of a SUN domain-containing protein 5 when measured in blood serum." "UMLS:C5681280 GARD:12470 MEDGEN:1843097 NANDO:1200764 Orphanet:79188" - "The parent compound of the 6-aminopurines, composed of a purine having an amino group at C-6." "Beilstein:608603 HMDB:HMDB0000034 PDBeChem:ADE KEGG:C00147 Wikipedia:Adenine DrugBank:DB00173 PMID:8070089 Reaxys:608603 Drug_Central:89 PMID:11985597 PMID:17439666 KNApSAcK:C00001490 KEGG:D00034 PMID:15715490 Gmelin:3903 MetaCyc:ADENINE PMID:15063338 CAS:73-24-5 PMID:12829005 PMID:12951489" + "The parent compound of the 6-aminopurines, composed of a purine having an amino group at C-6." "HMDB:HMDB0000034 PDBeChem:ADE KEGG:C00147 Wikipedia:Adenine DrugBank:DB00173 PMID:8070089 Reaxys:608603 Drug_Central:89 PMID:11985597 PMID:17439666 KNApSAcK:C00001490 KEGG:D00034 PMID:15715490 Gmelin:3903 MetaCyc:ADENINE PMID:15063338 CAS:73-24-5 PMID:12829005 PMID:12951489" "ICD10:E72.8" "Forward prominence of the entire forehead, due to protrusion of the frontal bone." "UMLS:C1867446 UMLS:C1837260" @@ -44463,9 +44126,9 @@ "Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon." "ICD10:H53.6 MeSH:C537743 UMLS:C1306122 OMIM:258100 OMIM:613411" "The amount of a haloacid dehalogenase-like hydrolase domain-containing protein 2 when measured in blood serum." - "An alpha-amino acid in which one of the hydrogens attached to the alpha-carbon of glycine is substituted by a 2-amino-2-oxoethyl group." "Gmelin:279043 PMID:22770225 Reaxys:1723525 CAS:3130-87-8 KEGG:C16438 Beilstein:1723525 PMID:22264337 Wikipedia:Asparagine" + "An alpha-amino acid in which one of the hydrogens attached to the alpha-carbon of glycine is substituted by a 2-amino-2-oxoethyl group." "Gmelin:279043 PMID:22770225 Reaxys:1723525 CAS:3130-87-8 KEGG:C16438 PMID:22264337 Wikipedia:Asparagine" "The amount of a PCNA-associated factor when measured in blood serum." - "Otitis media associated with accumulation of fluid in the middle ear." "NCIT:C34886 UMLS:C0456498 MeSH:D010034 ICD9:381.29 ICD9:381.20 MedDRA:10081113 ICD10:H65 DOID:11179 MONDO:0005892 MESH:D010034 SCTID:78868004 MEDGEN:629314" + "Otitis media associated with accumulation of fluid in the middle ear." "UMLS:C0456498 MeSH:D010034 ICD10:H65 SCTID:78868004 MEDGEN:629314 ICD9:381.29 MESH:D010034 MedDRA:10081113 NCIT:C34886 MONDO:0005892 DOID:11179 ICD9:381.20" "MEDGEN:1718470 OMIM:618918 UMLS:C5394503 GARD:16394" "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" "The amount of a FERM domain-containing protein 7 when measured in blood." "PMID:37794183" @@ -44540,7 +44203,7 @@ "The amount of a ubiquitin-like protein 7 when measured in blood serum." - "A member of the class of chlorobenzenes that is benzene in which all of the hydrogens are replaced by chlorines. An agricultural fungicide introduced in the mid-1940s and formerly used as a seed treatment, its use has been banned since 1984 under the Stockholm Convention on Persistent Organic Pollutants." "PMID:23627767 CAS:118-74-1 PMID:10641019 PMID:23747559 Gmelin:27278 PMID:23462309 PMID:23973543 PMID:12117784 PMID:24148401 PPDB:380 PMID:24311623 PMID:17150971 Reaxys:1912585 KEGG:C11042 PMID:24365113 Wikipedia:Hexachlorobenzene Beilstein:1912585 HMDB:HMDB0032566 PMID:23336922 PMID:23923419" + "A member of the class of chlorobenzenes that is benzene in which all of the hydrogens are replaced by chlorines. An agricultural fungicide introduced in the mid-1940s and formerly used as a seed treatment, its use has been banned since 1984 under the Stockholm Convention on Persistent Organic Pollutants." "PMID:23627767 CAS:118-74-1 PMID:10641019 PMID:23747559 Gmelin:27278 PMID:23462309 PMID:23973543 PMID:12117784 PMID:24148401 PPDB:380 PMID:24311623 PMID:17150971 Reaxys:1912585 KEGG:C11042 PMID:24365113 Wikipedia:Hexachlorobenzene HMDB:HMDB0032566 PMID:23336922 PMID:23923419" "quantification of the amount of C-C motif chemokine 5 in a sample" "Native elongating transcript sequencing technology for mammalian chromatin (mNET-seq)" "PMID:25910207" @@ -44557,7 +44220,6 @@ "Orphanet:98636" "A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival." "NCIT:C3174 MedDRA:10009013 UMLS:C0023473 EFO:0000339 OMIM:608232 MONDO:0011996 NCIT:C3177 Orphanet:521 MEDGEN:75993 GARD:6105 NANDO:2200013 ONCOTREE:CML UMLS:C0279543 GARD:0006105 COHD:134603 ICDO:9863/3 KEGG:05220 ICD9:205.1 ICD10:C92.1 DOID:8552 ICDO:9875/3 DOID:0081088" - "A bone cancer that is located_in the femur." "SCTID:126583006 MeSH:D005266 MONDO:0003505 MESH:D005266 DOID:5546 UMLS:C2362822 MEDGEN:1843484" "The amount of a clathrin light chain A when measured in blood." "PMID:37794183" "A sac shaped epithelial structure in the larva that gives rise to part of the adult integumentary system. One side of the sac consists of peripodial epithelium, the other of columnar epithelium. A single anterior-posterior compartment boundary bisects both peripodial membrane and columnar epithelium. Cells do not cross this boundary during growth and development of the disc." "UBERON:0000939" "A blood vessel that is part of a respiratory system [Automatically generated definition]." "EMAPA:35995 MA:0001799 EMAPA:35731" @@ -44599,7 +44261,7 @@ "Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base." "UMLS:C1853383 UMLS:C1839767 UMLS:C1850072" "1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency." "UMLS:C1842870 OMIM:607872 ICD10:Q93.5 MedDRA:10082398" "Quantification of some aspect of the male reproductive system" "PMID:32341457" - "An inorganic chloride of copper in which the metal is in the +2 oxidation state." "SNOMEDCT:311741002 PDBeChem:CUL Beilstein:8128168 NCIt:C61692 PMID:9730919 Reaxys:8128168 PMID:10444249 DrugBank:DB09131 Drug_Central:4530 CAS:7447-39-4 Gmelin:9300 Wikipedia:Copper(II)_chloride PPDB:174 MeSH:C029892" + "An inorganic chloride of copper in which the metal is in the +2 oxidation state." "SNOMEDCT:311741002 PDBeChem:CUL NCIt:C61692 PMID:9730919 Reaxys:8128168 PMID:10444249 DrugBank:DB09131 Drug_Central:4530 CAS:7447-39-4 Gmelin:9300 Wikipedia:Copper(II)_chloride PPDB:174 MeSH:C029892" "Quantification of serine protease inhibitor Kazal-type 5 in a sample." "PMID:29875488" "OMIM:300853 ICD10:D81.8" @@ -44716,7 +44378,6 @@ "GARD:17075 MEDGEN:1826086 Orphanet:177910 UMLS:C5680510" "A noncongenital process of hair loss, which may progress to partial or complete baldness." "SNOMEDCT_US:278040002 SNOMEDCT_US:56317004 MEDDRA:10001760 UMLS:C0002170" - "A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected." "MEDGEN:52426 icd11.foundation:22873958 ICD9:123.5 MONDO:0005963 UMLS:C0037753 DOID:10080 MeSH:D013031 SCTID:31659000 ICD10CM:B70.1 NCIT:C35030 MESH:D013031" "GARD:21601 Orphanet:371024 UMLS:C2936406 MEDGEN:423526" "The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems." "UMLS:C0796022 OMIM:300799 OMIM:309520 ICD10:Q87.8 OMIM:300676" "Human ovarian carcinoma cell line. (Sigma-Aldrich catalog number 93112519)" "RRID:CVCL_0134 CLO:0001571 BTO:0002549" @@ -44729,7 +44390,7 @@ "The amount of a replication protein A 32 kDa subunit when measured in blood." "PMID:37794183" "OMIM:608227" - "An aminoquinoline that is quinoline which is substituted at position 4 by a [5-(diethylamino)pentan-2-yl]amino group at at position 7 by chlorine. It is used for the treatment of malaria, hepatic amoebiasis, lupus erythematosus, light-sensitive skin eruptions, and rheumatoid arthritis." "PMID:18052874 PMID:19426658 MeSH:D002738 Beilstein:482809 Gmelin:781126 PMID:25285162 NCIt:C61671 CAS:54-05-7 Wikipedia:Chloroquine PMID:17594118 PMID:23635029 PMID:11198399 PMID:23288916 Patent:DE683692 Drug_Central:607 PMID:23891850 HMDB:HMDB0014746 PMID:23580861 Patent:US2233970 PMID:23644906 SNOMEDCT:14728000 DrugBank:DB00608 Reaxys:482809 PMID:23852712 PMID:23706562 PDBeChem:CLQ LINCS:LSM-1901 KEGG:C07625 KEGG:D02366 SNOMEDCT:373468005" + "An aminoquinoline that is quinoline which is substituted at position 4 by a [5-(diethylamino)pentan-2-yl]amino group at at position 7 by chlorine. It is used for the treatment of malaria, hepatic amoebiasis, lupus erythematosus, light-sensitive skin eruptions, and rheumatoid arthritis." "PMID:18052874 PMID:19426658 MeSH:D002738 Gmelin:781126 PMID:25285162 NCIt:C61671 CAS:54-05-7 Wikipedia:Chloroquine PMID:17594118 PMID:23635029 PMID:11198399 PMID:23288916 Patent:DE683692 Drug_Central:607 PMID:23891850 HMDB:HMDB0014746 PMID:23580861 Patent:US2233970 PMID:23644906 SNOMEDCT:14728000 DrugBank:DB00608 Reaxys:482809 PMID:23852712 PMID:23706562 PDBeChem:CLQ LINCS:LSM-1901 KEGG:C07625 KEGG:D02366 SNOMEDCT:373468005" "Quantification of the amount of X-24870 in a sample." "PMID:35050183" @@ -44788,7 +44449,7 @@ "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the gallbladder." "UMLS:C3273116 MEDGEN:474749 Orphanet:100086 GARD:19761 NCIT:C96918" "The amount of a methylmalonyl-CoA mutase, mitochondrial when measured in blood." "PMID:37794183" - "A cholanic acid conjugate anion that is the conjugate base of glycocholic acid, obtained by deprotonation of the carboxy group; major species at pH 7.3." "Beilstein:3739464 Reaxys:3739464 DrugBank:DB02691 KEGG:C01921" + "A cholanic acid conjugate anion that is the conjugate base of glycocholic acid, obtained by deprotonation of the carboxy group; major species at pH 7.3." "Reaxys:3739464 DrugBank:DB02691 KEGG:C01921" "Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia." "UMLS:C1853942 NANDO:1200979 GARD:10214 OMIM:605814 MESH:C536398 MEDGEN:340091 DOID:0070341 SCTID:717155003 Orphanet:247598" "A risk factor for suicide attempts and completions, it is the most common of all suicidal behavior, but only a minority of ideators engage in overt self-harm." "ICD9:V62.84 MeSH:D059020 MedDRA:10042458 NCIt:C80102" @@ -44811,7 +44472,7 @@ "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the CYP2U1 gene." "OMIM:615030 GARD:17480 UMLS:C3539507 DOID:0110808 Orphanet:320411 MEDGEN:761343" "Median elements that are ossified within copulae and are not assigned to a specific branchial arch number. They articulate posterolaterally with the hypobranchials." "AAO:0000686 ZFA:0000170 EFO:0003503 TAO:0000170" "Quantification of the amount of X-04495 in a sample." "PMID:24816252" - "A member of the class of rifamycins that is a a semisynthetic antibiotic derived from Amycolatopsis rifamycinica (previously known as Amycolatopsis mediterranei and Streptomyces mediterranei)." "PMID:19458074 KEGG:C06688 PMID:27617596 PMID:15331348 PMID:27569735 PMID:27082586 PMID:27640793 Patent:US3342810 PMID:27795624 PMID:28262820 PMID:25720500 PMID:27182275 PMID:27965540 HMDB:HMDB0015179 PMID:26819743 PMID:15705662 KEGG:D00211 PMID:27470132 PMID:28207542 PMID:24718527 CAS:13292-46-1 PMID:27993874 DrugBank:DB01045 PMID:16515773 PMID:14665784 PMID:28184157 PMID:27755552 PMID:28118809 PMID:28081169 PMID:16159084 Patent:NL6509961 PMID:15383168 Reaxys:5723476 Beilstein:5723476 PMID:11600355 PDBeChem:RFP Wikipedia:Rifampicin NCIt:C811 PMID:14670633 PMID:19723399 PMID:19386087 PMID:27242224 PMID:27883163 PMID:28181840 PMID:18332862 PMID:17828712 PMID:27143080 MeSH:D012293 SNOMEDCT:387159009 PMID:26725427" + "A member of the class of rifamycins that is a a semisynthetic antibiotic derived from Amycolatopsis rifamycinica (previously known as Amycolatopsis mediterranei and Streptomyces mediterranei)." "PMID:19458074 KEGG:C06688 PMID:27617596 PMID:15331348 PMID:27569735 PMID:27082586 PMID:27640793 Patent:US3342810 PMID:27795624 PMID:28262820 PMID:25720500 PMID:27182275 PMID:27965540 HMDB:HMDB0015179 PMID:26819743 PMID:15705662 KEGG:D00211 PMID:27470132 PMID:28207542 PMID:24718527 CAS:13292-46-1 PMID:27993874 DrugBank:DB01045 PMID:16515773 PMID:14665784 PMID:28184157 PMID:27755552 PMID:28118809 PMID:28081169 PMID:16159084 Patent:NL6509961 PMID:15383168 Reaxys:5723476 PMID:11600355 PDBeChem:RFP Wikipedia:Rifampicin NCIt:C811 PMID:14670633 PMID:19723399 PMID:19386087 PMID:27242224 PMID:27883163 PMID:28181840 PMID:18332862 PMID:17828712 PMID:27143080 MeSH:D012293 SNOMEDCT:387159009 PMID:26725427" "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TMEM43 gene." "MESH:C565776 OMIM:604400 MEDGEN:346805 UMLS:C1858379 DOID:0110074" @@ -44881,7 +44542,6 @@ "OMIM:618912 DOID:0081427 UMLS:C5394466 MEDGEN:1714781" "Any FG syndrome in which the cause of the disease is a mutation in the MED12 gene." "GARD:2317 MEDGEN:1768809 UMLS:C5399762 NORD:1142 Orphanet:93932 OMIM:305450" "Quantification of the amount of N-nervonoyl taurine in a sample." "PMID:35995766" - "A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia." "MedDRA:10013030 GARD:942 MONDO:0015260 SCTID:187151009 ICD10CM:B70.0 DOID:10075 UMLS:C0012561 NCIT:C128391 icd11.foundation:1679215344 Orphanet:128 MESH:D004169 MEDGEN:3858 ICD9:123.4 MedDRA:10013029 MeSH:D004169" "NIFSTD:birnlex_484" "Quantification of UV excision repair protein RAD23 homolog B in a sample." "PMID:29875488" "Disorders in which the symptoms are distressing to the individual and recognized by him or her as being unacceptable. Social relationships may be greatly affected but usually remain within acceptable limits. The disturbance is relatively enduring or recurrent without treatment." "MESH:D000275 ICD9:300.9 ICD9:300.89 UMLS:C0027932 MeSH:C564323 MONDO:0005379 SCTID:111475002 ICD10CM:F34.1 MeSH:D009497 MEDGEN:10334 NCIT:C34848 SCTID:78667006 NCIT:C35369 DOID:4964 MESH:D003866 MESH:D009497" @@ -44893,7 +44553,7 @@ "A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma." "ONCOTREE:UEC icd11.foundation:671511103 NCIT:C6287 MONDO:0006192 EFO:1000233 MEDGEN:234467 UMLS:C1336905" "A WHO grade ll astrocytic tumor with a relatively favorable prognosis. It is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies. It presents in the superficial cerebral hemispheres and involves the meninges. It typically affects children and young adults." "ICDO:9424/3 GARD:10631 Orphanet:251607 MEDGEN:137786 UMLS:C0334586 ONCOTREE:PXA DOID:4852 NCIT:C4323" "The hip region is located lateral to the gluteal region (i.e. the buttock), inferior to the iliac crest, and overlying the greater trochanter of the thigh bone. In adults, three of the bones of the pelvis have fused into the hip bone which forms part of the hip region. The hip joint, scientifically referred to as the acetabulofemoral joint (art. coxae), is the joint between the femur and acetabulum of the pelvis and its primary function is to support the weight of the body in both static (e.g. standing) and dynamic (e.g. walking or running) postures. [WP,modified]." "NCIT:C64193 UMLS:C0019552 EHDAA2:0000783 VHOG:0000346 EHDAA:5153 BTO:0001457 EMAPA:17490 MA:0000045 galen:Hip EFO:0001929 SCTID:302543008 EHDAA:6178 FMA:24964 MESH:D006615 CALOHA:TS-2226 Wikipedia:Hip GAID:47" - "An octadecatetraenoic acid having four double bonds located at positions 6, 9, 12 and 15 (the all-cis-isomer). It has been isolated from Lithospermum officinale and fish oils." "HMDB:HMDB0006547 Beilstein:1712973 Reaxys:1712973 KEGG:C16300 LIPID_MAPS_instance:LMFA01030357 Wikipedia:Stearidonic_acid PMID:23932357 MetaCyc:CPD-12653 KNApSAcK:C00000405 CAS:20290-75-9 Patent:CA2827585 PMID:24553695 Patent:KR20130045846" + "An octadecatetraenoic acid having four double bonds located at positions 6, 9, 12 and 15 (the all-cis-isomer). It has been isolated from Lithospermum officinale and fish oils." "HMDB:HMDB0006547 Reaxys:1712973 KEGG:C16300 LIPID_MAPS_instance:LMFA01030357 Wikipedia:Stearidonic_acid PMID:23932357 MetaCyc:CPD-12653 KNApSAcK:C00000405 CAS:20290-75-9 Patent:CA2827585 PMID:24553695 Patent:KR20130045846" "The amount of a TraB domain-containing protein when measured in blood serum." @@ -44972,7 +44632,6 @@ "An infection occurring in puerperium, the period of 6-8 weeks after giving birth." "MedDRA:10072652 MESH:D011645 MONDO:0021742 MEDGEN:11022 UMLS:C0034041 MeSH:D011645" "The amount of a pancreatic lipase-related protein 1 when measured in blood serum." "The amount of a myosin regulatory light chain MRLC3 when measured in blood serum." - "A syndrome characterized by persistent or recurrent fatigue, diffuse musculoskeletal pain, sleep disturbances, and subjective cognitive impairment of 6 months duration or longer. Symptoms are not caused by ongoing exertion; are not relieved by rest; and result in a substantial reduction of previous levels of occupational, educational, social, or personal activities. Minor alterations of immune, neuroendocrine, and autonomic function may be associated with this syndrome. There is also considerable overlap between this condition and FIBROMYALGIA. (From Semin Neurol 1998;18(2):237-42; Ann Intern Med 1994 Dec 15;121(12): 953-9)" "ICD9:780.79 NCIt:C3037 Wikipedia:Chronic_fatigue_syndrome MONDO:0005404 MEDGEN:5130 UMLS:C0015674 MESH:D015673 MedDRA:10008874 ICD9:780.71 DOID:8544 SCTID:51771007 NCIT:C3037 Orphanet:1983 MeSH:D015673 SNOMEDCT:52702003" "ICD9:729.2 SCTID:17111003 MEDGEN:508062 UMLS:C0032772" "Quantification of the amount of Glutarate (pentanedioate) in a sample." "PMID:35050183" @@ -45048,7 +44707,6 @@ "The result of a measurement of circulating antibodies specific to a ralstonia solanacearum antigen." "PMID:37164013" "The amount of a phosphoserine aminotransferase when measured in blood serum." "A neoplasm (disease) that involves the eye." "ICD10:C69 NCIT:C3030 ICD10CM:C69-C72 MeSH:D005134 NCIt:C3030 UMLS:C0015414 MONDO:0021220 MEDGEN:5095 ONCOTREE:EYE" - "Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines." "UMLS:C0877015 MESH:D056887 SNOMEDCT:237113009 SCTID:237113009 icd11.foundation:148580117 MEDGEN:209090 MeSH:D056887 MONDO:0000082" "Quantification of tyrosine-protein kinase transmembrane receptor ROR2 in a sample." "PMID:29875488" "A germ cell tumor that arises from the mediastinum. Representative examples include seminoma, embryonal carcinoma, yolk sac tumor, teratoma, and mixed germ cell tumor." "MEDGEN:233678 UMLS:C1334655 NCIT:C6437" "UMLS:C1861753 MEDGEN:396213 GARD:17078 Orphanet:178145" @@ -45073,7 +44731,7 @@ "SNOMEDCT:74028009 MeSH:D016927" "ANPM" "UMLS:C0268127 MedDRA:10070969" "An alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 42 carbons and 4 double bonds." - "A fibrous remnant of the allantoic stalk, a narrow fetal canal connecting the apex of the urinary bladder with the umbilicus located in the space of Retzius, between the transversalis fascia anteriorly and the peritoneum posteriorly. its lumen is normally obliterated during development, transforming the urachus into a solid cord, a functionless remnant that persists throughout life as the median umbilical ligament; failure of complete lumen obliteration may result in distinct congenital urachal remnant anomalies[MP]." "Wikipedia:Urachus EHDAA2:0002137 UMLS:C0041916 SCTID:276858000 EMAPA:18323 MA:0001701 GAID:1313 EHDAA:7016 RETIRED_EHDAA2:0002138 FMA:70343 VHOG:0000735 NCIT:C12338 EHDAA:9332 MESH:D014497" + "A fibrous remnant of the allantoic stalk, a narrow fetal canal connecting the apex of the urinary bladder with the umbilicus located in the space of Retzius, between the transversalis fascia anteriorly and the peritoneum posteriorly. its lumen is normally obliterated during development, transforming the urachus into a solid cord, a functionless remnant that persists throughout life as the median umbilical ligament; failure of complete lumen obliteration may result in distinct congenital urachal remnant anomalies[MP]." "Wikipedia:Urachus EHDAA2:0002137 UMLS:C0041916 SCTID:276858000 MA:0001701 EMAPA:18323 GAID:1313 EHDAA:7016 RETIRED_EHDAA2:0002138 FMA:70343 VHOG:0000735 NCIT:C12338 EHDAA:9332 MESH:D014497" "The region of the cerebral cortex covering the basal surface of the frontal lobes; this region normally controls emotion and decision making." "DHBA:10194 neuronames:91 FMA:242003 Wikipedia:Orbitofrontal_cortex EFO:0001990 BIRNLEX:1049 UMLS:C0152301" "A kilogram is a mass unit which is equal to the mass of the International Prototype Kilogram kept by the BIPM at Svres, France." "MO:846 SNOMEDCT:258683005 NCIt:C28252" @@ -45123,6 +44781,7 @@ "NANDO:2200360 NANDO:1200412 NANDO:2200359 NANDO:1200411" "A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between." + "A cation channel that opens in response to binding by extracellular glutmate, but only if glycine or D-serine is also bound and the membrane is depolarized. Voltage gating is indirect, due to ejection of bound magnesium from the pore at permissive voltages." "Wikipedia:NMDA_receptor" "A portion of vascular tissue (PO:0009015) that has as part one or more tracheary elements (PO:0000290)." "The amount of a DnaJ homolog subfamily B member 3 when measured in blood serum." "The lower part of the pharynx that connects to the esophagus." "NCIt:C12246 BTO:0001740" @@ -45138,7 +44797,7 @@ "Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children." "UMLS:C0221263 SNOMEDCT_US:201281002 UMLS:C0265974 SNOMEDCT_US:51089004" "A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations." "icd11.foundation:714623911 SCTID:70528007 NCIT:C61267 MEDGEN:7731 UMLS:C0026697 Orphanet:79212 DOID:0080488 GARD:18975 MESH:D009081" - "A pyranoindolizinoquinoline that is pyrano[3',4':6,7]indolizino[1,2-b]quinoline which is substituted by oxo groups at positions 3 and 14, and by an ethyl group and a hydroxy group at position 4 (the S enantiomer)." "PMID:8965250 KEGG:C01897 PMID:23344961 CAS:7689-03-4 LINCS:LSM-4611 PMID:11549373 KNApSAcK:C00002145 Wikipedia:Camptothecin PMID:11024478 MeSH:D002166 Beilstein:6075662 Reaxys:6075662 PMID:23474217 PDBeChem:EHD SNOMEDCT:95994003 PMID:23676007 NCIt:C338 DrugBank:DB04690" + "A pyranoindolizinoquinoline that is pyrano[3',4':6,7]indolizino[1,2-b]quinoline which is substituted by oxo groups at positions 3 and 14, and by an ethyl group and a hydroxy group at position 4 (the S enantiomer)." "PMID:8965250 KEGG:C01897 PMID:23344961 CAS:7689-03-4 LINCS:LSM-4611 PMID:11549373 KNApSAcK:C00002145 Wikipedia:Camptothecin PMID:11024478 MeSH:D002166 Reaxys:6075662 PMID:23474217 PDBeChem:EHD SNOMEDCT:95994003 PMID:23676007 NCIt:C338 DrugBank:DB04690" "human erythroleukemia cell line derived from peripheral blood of a patient with Hodgkin's disease who later developed erythroleukemia" "BTO:0000565 RRID:CVCL_0001" "An anomalous finding in the examination of the urine for cells." "UMLS:C0587955 SNOMEDCT_US:310439007" @@ -45153,7 +44812,6 @@ "OBSOLETE. Any constituent part of the cytoskeleton, a cellular scaffolding or skeleton that maintains cell shape, enables some cell motion (using structures such as flagella and cilia), and plays important roles in both intra-cellular transport (e.g. the movement of vesicles and organelles) and cellular division. Includes constituent parts of intermediate filaments, microfilaments, microtubules, and the microtrabecular lattice." "NIF_Subcellular:sao1635329413" "The amount of a ectonucleotide pyrophosphatase/phosphodiesterase family member 5 when measured in blood serum." "The amount of a serine--tRNA ligase, mitochondrial when measured in blood serum." - "Anlage in statu nascendi in the blastoderm embryo that will give rise to the embryonic hypopharynx." "FBbt:00016000" "The amount of a charged multivesicular body protein 1b when measured in blood serum." "UMLS:C5394237 MEDGEN:1709379 DOID:0112118 OMIM:618839" @@ -45202,12 +44860,11 @@ "OMIM:618838 DOID:0112119 UMLS:C5394236 MEDGEN:1711853" "ICD10:Q87.3 Orphanet:96193 UMLS:CN206842" - "A form of RETINAL DEGENERATION in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision." "ICD9:362.52 SCTID:414173003 MONDO:0005417 DOID:10873 MedDRA:10067791 MEDGEN:389185 MeSH:D057135 UMLS:C2237660 MESH:D057135" "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinobacillus ureae, which is a commensal of the human respiratory tract. The pathogen causes meningitis, endocarditis, bacteremia, atrophic rhinitis, bronchitis, pneumonia, conjunctivitis, peritonitis, and otitis media." "MeSH:D000187 DOID:4974" "The amount of a butyrophilin subfamily 1 member A1 when measured in blood." "PMID:37794183" "Quantification of leucine-rich repeat-containing protein 3 in a sample." "PMID:29875488" - "A pyrazolopyrimidine that is 4,5,6,7-tetrahydro-H-pyrazolo[3,4-d]pyrimidine substituted by oxo groups at positions 4 and 6." "CAS:2465-59-0 Reaxys:139956 Beilstein:139956 Wikipedia:Oxypurinol KEGG:D02365 HMDB:HMDB0000786 PMID:18484017 KEGG:C07599 PMID:24184830 PMID:23751350 BPDB:2154 PMID:24591375" + "A pyrazolopyrimidine that is 4,5,6,7-tetrahydro-H-pyrazolo[3,4-d]pyrimidine substituted by oxo groups at positions 4 and 6." "CAS:2465-59-0 Reaxys:139956 Wikipedia:Oxypurinol KEGG:D02365 HMDB:HMDB0000786 PMID:18484017 KEGG:C07599 PMID:24184830 PMID:23751350 BPDB:2154 PMID:24591375" "Quantification of the amount of 1-(1-enyl-oleoyl)-GPE (P-18:1) in a sample." "PMID:35347128" "quantification of the amount of hepatocyte growth factor-like protein in a sample" "Quantification of the amount of CXCL11 protein in a sample" "PMID:32641083" @@ -45216,7 +44873,7 @@ "Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases." "MEDGEN:344453 icd11.foundation:1994645064 MESH:C537350 UMLS:C1855243 GARD:3519 OMIM:250215 Orphanet:1240" "A short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis." "SCTID:723556008 Orphanet:3317 icd11.foundation:337990406 MESH:C536517 UMLS:C1861197 GARD:5184 OMIM:187760 MEDGEN:349978 OMIM:187770" "quantification of the amount of heparin cofactor 2 in a sample" - "A monocarboxylic acid anion that is the conjugate base of dichloroacetic acid." "CAS:13425-80-4 MetaCyc:CPD-9674 PMID:21153705 Beilstein:3903873 Gmelin:200685 Reaxys:3903873 UM-BBD_compID:c0012" + "A monocarboxylic acid anion that is the conjugate base of dichloroacetic acid." "CAS:13425-80-4 MetaCyc:CPD-9674 PMID:21153705 Gmelin:200685 Reaxys:3903873 UM-BBD_compID:c0012" "The amount of a N-linolenoyl glutamine when measured in blood serum." "The amount of a DNA dC->dU-editing enzyme APOBEC-3G when measured in blood serum." @@ -45237,7 +44894,6 @@ "UMLS:C5394226 OMIM:618830 MEDGEN:1717195" - "A disorder of neuromuscular transmission characterized by weakness of cranial and skeletal muscles. Autoantibodies directed against acetylcholine receptors damage the motor endplate portion of the neuromuscular junction, impairing the transmission of impulses to skeletal muscles. Clinical manifestations may include diplopia, ptosis, and weakness of facial, bulbar, respiratory, and proximal limb muscles. The disease may remain limited to the ocular muscles. THYMOMA is commonly associated with this condition. (Adams et al., Principles of Neurology, 6th ed, p1459)" "icd11.foundation:1270100227 NANDO:1200020 ICD9:358.0 NCIT:C60989 ICD10:G70 UMLS:C0026896 SCTID:91637004 ICD9:358.00 MONDO:0009688 ICD10CM:G70.0 SNOMEDCT:91637004 MESH:D009157 MedDRA:10028417 NCIt:C60989 DOID:437 Orphanet:589 NANDO:2200906 NORD:1478 NANDO:2100252 MeSH:D009157 GARD:7122 MEDGEN:7764 OMIM:254200" "OMIM:618218 GARD:17962 Orphanet:522077 UMLS:C4748715 MEDGEN:1648431" "The amount of a torsin-4A when measured in blood serum." @@ -45280,7 +44936,7 @@ "OMIM:193240" "Quantification of the amount of X-21842 in a sample." "PMID:35347128" - "An indolinone carrying an oxo group at position 2." "CAS:59-48-3 PMID:24500796 Beilstein:114692 Gmelin:637057 PMID:24433962 Reaxys:114692 KEGG:C12312" + "An indolinone carrying an oxo group at position 2." "CAS:59-48-3 PMID:24500796 Gmelin:637057 PMID:24433962 Reaxys:114692 KEGG:C12312" "The amount of a kidney-associated antigen 1 when measured in blood serum." "Soft tissue tumors or cancer arising from the mucosal surfaces of the lip; oral cavity; pharynx; larynx; and cervical esophagus. Other sites included are the nose and paranasal sinuses; salivary glands; thyroid gland and parathyroid glands; and melanoma and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)" "MONDO:0005398 SCTID:439361000 UMLS:C0887900 ICD9:239.89 EFO:0004284 MEDGEN:164664" "Infestation with mites of the genus Trombiculidae, whose larvae carry the rickettsial agent of scrub typhus." "MONDO:0005998 DOID:8399 MeSH:D014323 MEDGEN:11928 MESH:D014323 UMLS:C0041170" @@ -45404,7 +45060,7 @@ "The amount of a protein BEX5 when measured in blood serum." "The amount of a endoplasmic reticulum resident protein 27 when measured in blood serum." "Quantification of the amount of 2-hydroxyarachidate in a sample." "PMID:35347128" - "An organic thiophosphate that is O,O-diethyl hydrogen phosphorothioate in which the hydrogen of the hydroxy group has been replaced by a 3,5,6-trichloropyridin-2-yl group." "Beilstein:1545756 PPDB:154 PMID:31152760 SNOMEDCT:31480004 Wikipedia:Chlorpyrifos KEGG:D07688 KEGG:C14322 Reaxys:1545756 PMID:11882345 PMID:18166376 CAS:2921-88-2 HMDB:HMDB0041856 MeSH:D004390 Pesticides:chlorpyrifos" + "An organic thiophosphate that is O,O-diethyl hydrogen phosphorothioate in which the hydrogen of the hydroxy group has been replaced by a 3,5,6-trichloropyridin-2-yl group." "PPDB:154 PMID:31152760 SNOMEDCT:31480004 Wikipedia:Chlorpyrifos KEGG:D07688 KEGG:C14322 Reaxys:1545756 PMID:11882345 PMID:18166376 CAS:2921-88-2 HMDB:HMDB0041856 MeSH:D004390 Pesticides:chlorpyrifos" "OMIM:614751 OMIM:600794 ICD10:G12.2" "OMIM:616754" @@ -45432,7 +45088,6 @@ "OMIM:605711 ICD10:E88.8" "The amount of a calcium/calmodulin-dependent protein kinase type IV when measured in blood serum." - "a skin condition that is characterized by small blisters on the hands or feet. It is an acute, chronic, or recurrent dermatosis of the fingers, palms, and soles, characterized by a sudden onset of many deep-seated pruritic, clear vesicles; later, scaling, fissures and lichenification occur. Recurrence is common and for many can be chronic. Incidence/prevalence is said to be 1/5,000 in the United States. However, many cases of eczema are diagnosed as garden-variety atopic eczema without further investigation, so it is possible that this figure is misleading.This condition is not contagious to others, but the compromised integument can increase susceptibility to infection, and the accompanying itching can be a source of psychological distress" "MESH:D011146 SCTID:402567004 ICD9:692.9 MedDRA:10013912 Wikipedia:Dyshidrosis DOID:9230 MEDGEN:10851 ICD9:705.81 UMLS:C0032633 MONDO:0006540" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the USH1C gene." "MESH:C566580 GARD:22592 DOID:0110473 MEDGEN:356389 OMIM:602092 UMLS:C1865870" "The amount of a 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase 9 when measured in blood serum." "Quantification of the amount of inosine 5'-monophosphate (IMP) in a sample." "PMID:35347128" @@ -45461,7 +45116,6 @@ "SCTID:254095002 Orphanet:93439 GARD:19196 ICD9:756.59 MEDGEN:609415 UMLS:C0432238" "The amount of a AP-3 complex subunit beta-1 when measured in blood." "PMID:37794183" - "A mole is a substance unit which is equal to the amount of substance of a molecular system which contains as many elementary entities as there are atoms in 0.012 kilogram of carbon 12." "SNOMEDCT:258717005 MO:998 NCIt:C42539" "Quantification of the amount of complement C3d subcomponent in a blood sample." "PMID:29398083" "NZO mice of both sexes exhibit high birth weights and are significantly heavier at weaning age. Severe obesity (including both visceral and subcuatneous fat depots) develops even when mice are maintained on a standard diet containing 4.5% fat. Both males and females of the NZO/Hl substrain exhibit impaired glucose tolerance (IGT), but subsequent type 2 maturity onset (NIDDM) diabetes development is limited to males, with a phenotype penetrance of 50% or less. NZO/Hl mice also show anti-insulin receptor antibodies, a defect in leptin transport, and hypertension. The genetic lesion appears to be within the islets of Langerhans as transfer of pancreatic islets from normal mice returns body weights and blood glucose levels to within normal range. Ovarian granulosa cell tumors, lymphomas, duodenal, and lung tumors have also been noted to occur in NZO mice at an elevated frequency. F1 hybrids of NON/ShiLt and NZO/Hl provide a new model of obesity-induced diabetes. Male (NON/ShiLt x NZO/Hl)F1 hybrids are obese (BW = 53.5 g by 16 weeks) and almost all develop maturity onset NIDDM. F1 males on a 4% diet will develop hyperglycemia around 20 to 24 weeks of age; increasing the fat content of the diet accelerates diabetes onset to 16 to 20 weeks of age. (NZO/Hl x NON/ShiLt)F1 hybrids will develop diabetes slightly faster than their reciprocal cross due to the NZO maternal environment; however this cross is difficult to produce due to the inherently poor breeding performance of NZO/HlJ female mice. F1 females exhibit a weight gain similar to the NZO parent, and have impaired glucose tolerance but are resistant to diabetes development. Diabetes development can be accelerated to eight to 12 weeks by fostering onto an F1 dam. Reciprocal backcrosses to the parental strains and analysis of (NON/ShiLt x NZO/Hl)F2 mice has led to the identification of a number of complex diabetes-predisposing (\"diabesity\") QTLs. Dr. Leiter's research group at The Jackson Laboratory is currently developing a series of nine recombinant congenic strains (RCS) made by backcrossing the (NZO/Hl x NON/ShiLt)F1 for two generations onto the NON/ShiLt background before inbreeding (~12% NZO/Hl, 88% NON/ShiLt genomes). Preliminary analysis indicates that body weight gains of all RCS are higher than NON/ShiLt, but none are as obese as NZO/Hl; some of these RCS develop NIDDM while others are resistant. These new strains will be useful to further analyze diabesity QTLs and as new models for type 2 (NIDDM) diabetes. An additional benefit of the RCS is better breeding performance than NZO/Hl." "Wheat streak mosaic virus (WSMV) is a plant pathogenic virus of the family Potyviridae that infects plants in the Poaceae family, especially wheat (Triticum spp.); it is globally distributed and vectored by the wheat curl mite, particularly in regions where wheat is widely grown." "Wikipedia:Wheat_streak_mosaic_virus" @@ -45593,7 +45247,6 @@ "OMIM:615376 ICD10:G60.0" "A time series study design type examines groups of assays that are related as part of a time series." "MO:887" - "A viral infectious disease that results_in infection located_in eyes or located_in upper respiratory tract of domestic rabbits, has_material_basis_in Myxoma virus, which is transmitted_by mosquitos, transmitted_by biting flies or transmitted_by direct contact. The infection has_symptom conjunctivitis with a milky discharge from the inflamed eye and has_symptom breathing difficulties." "MESH:D009234 MeSH:D009234 DOID:3297 MONDO:0005811" "The amount of a U8 snoRNA-decapping enzyme when measured in blood serum." "A carcinoma arising from the nasopharyngeal epithelium. It includes the following types: keratinizing squamous cell carcinoma, nonkeratinizing carcinoma (differentiated and undifferentiated), basaloid squamous cell carcinoma, and papillary adenocarcinoma." "Orphanet:150 ICD9:147.9 UMLS:C2931822 MESH:C538339 MESH:D00007727 ICD9:147.3 SCTID:363398003 GARD:7163 ICD9:147.1 ICD9:147.2 icd11.foundation:1883313543 ICD9:147 NCIT:C3871 MESH:D000077274 MedDRA:10028793 ONCOTREE:NPC MEDGEN:419909 ICD9:147.0 DOID:9261" "A neoplasm (disease) that involves the pericardium." "UMLS:C0349574 MEDGEN:91156 ICD9:239.89 NCIT:C4651 SCTID:126734005" @@ -45604,7 +45257,7 @@ "circumferential measurement of the largest part of the hip" "NCIt:C100947 SNOMEDCT:284472007" "Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." "ICD10:Q87.0 UMLS:C2931889 UMLS:C0026363 MeSH:C538585 OMIM:252100" "The amount of a probable aminopeptidase NPEPL1 when measured in blood serum." - "A sporadic or less frequently familial neoplasm, arising from the glandular epithelium of the stomach, small intestine, biliary tract, colon, and rectum. It is a polypoid or flat circumscribed lesion. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe. The frequency of malignant transformation depends on the size of the lesion and the degree of dysplasia. Larger adenomas with severe dysplastic changes (sometimes called carcinoma in situ) carry a higher risk of progressing to invasive adenocarcinoma. Gastrointestinal adenomas may present as solitary or multifocal lesions. Familial adenomas tend to be multifocal and carry a higher risk of malignant transformation." "DOID:4147 MEDGEN:184920 MONDO:0006180 NCIT:C36207 UMLS:C0948101 EFO:1000217" + "A sporadic or less frequently familial neoplasm, arising from the glandular epithelium of the stomach, small intestine, biliary tract, colon, and rectum. It is a polypoid or flat circumscribed lesion. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe. The frequency of malignant transformation depends on the size of the lesion and the degree of dysplasia. Larger adenomas with severe dysplastic changes (sometimes called carcinoma in situ) carry a higher risk of progressing to invasive adenocarcinoma. Gastrointestinal adenomas may present as solitary or multifocal lesions. Familial adenomas tend to be multifocal and carry a higher risk of malignant transformation." "MEDGEN:184920 MONDO:0006180 NCIT:C36207 UMLS:C0948101 EFO:1000217 DOID:4147" "Loss or absence of normal intestinal function due to nerve damage or birth defects. It is characterized by the inability to control the elimination of stool from the body." "MeSH:D055496 ICD9:564.81 UMLS:C0695242 MONDO:0006868 MEDGEN:151969 ICD10:K59.2 SNOMEDCT:425671009 MedDRA:10048657 MESH:D055496 DOID:13419 SCTID:425671009" "A histone mutated tumor that is characterized by the presence of histone H3 K27M mutation located throughout the midline structures of the central nervous system." "DOID:0080684 MEDGEN:927220 UMLS:C4289688" @@ -45639,7 +45292,7 @@ "A disorder of fatty acid and amino acid oxidation, caused by mutations in ETFDH, ETFA, or ETFB, and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." "UMLS:C0268596 Orphanet:26791 GARD:6523 NORD:1192 icd11.foundation:977130875 MEDGEN:75696 NANDO:1200801 DOID:0060358 NANDO:2200502 NCIT:C84907 OMIM:231680" "A neurodegenerative condition that is characterized by demyelination or necrosis of the CORPUS CALLOSUM. Symptoms include DEPRESSION; PARANOIA; DEMENTIA; SEIZURES; and ATAXIA which can progress to COMA and death in a few months. Marchiafava-Bignami syndrome is seen often in alcoholics but has been found in non-alcoholics as well." "SNOMEDCT:386766007 ORDO:Orphanet_221074 MeSH:D054319 ICD9:341.8 MONDO:0016370 GARD:6971 SCTID:386766007 MedDRA:10026828 MEDGEN:65955 MESH:D054319 icd11.foundation:1694687314 UMLS:C0238265 Orphanet:221074" - "A dicarboxylic acid dianion obtained by the deprotonation of both the carboxy groups of pimelic acid." "Gmelin:363895 Beilstein:3905193 Reaxys:3905193 MetaCyc:CPD-205" + "A dicarboxylic acid dianion obtained by the deprotonation of both the carboxy groups of pimelic acid." "Gmelin:363895 Reaxys:3905193 MetaCyc:CPD-205" "Quantification of thyroid hormone receptor alpha in a sample." "PMID:29875488" "Quantification of nicotine in blood plasma." "KEGG COMPOUND:C00745 HMDB:0001934" @@ -45741,7 +45394,6 @@ "Quantification of the amount of 1-methylguanosine in a sample." "PMID:35995766" "Quantification of the amount of hypoxia-inducible factor 1-alpha measurement in a sample." "PMID:36168886" "The glandular, anterior lobe of the pituitary gland. The anterior pituitary regulates several physiological processes including stress, growth, and reproduction[WP]. The anterior lobe of the hypophysis (pituitary gland). This lobe contains cells that produce prolactin, growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone and proopiomelanocortin[ZFA]." "UMLS:C1280369 AAO:0010540 TAO:0001282 BM:AHy CALOHA:TS-0794 VHOG:0000141 MESH:D010903 MA:0000177 SCTID:245532007 EHDAA2:0000109 NCIT:C12772 BIRNLEX:1581 FMA:74627 UMLS:C0032008 EMAPA:17514 BTO:0000040 neuronames:407 BAMS:AHY BAMS:AL EFO:0000230 Wikipedia:Adenohypophysis BAMS:APit ZFA:0001282" - "A brain disease and is_a HIV encephalopathy that results_in infection in adults located_in brain, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems." "MONDO:0020689 MedDRA:10001510 MEDGEN:177 GARD:8250 MESH:D015526 UMLS:C0001849 ICD9:294.8 SCTID:421529006 NCIT:C2864 MeSH:D015526 NCIt:C2864" "Quantification of myotonin-protein kinase in a sample." "PMID:29875488" @@ -45802,7 +45454,7 @@ "Catalysis of the reaction: 5-oxo-L-proline + ATP + 2 H2O = L-glutamate + ADP + 2 H+ + phosphate." "RHEA:10348 Reactome:R-HSA-5603208 EC:3.5.2.9 Reactome:R-HSA-1247935 Wikipedia:5-oxoprolinase_(ATP-hydrolysing) MetaCyc:5-OXOPROLINASE-ATP-HYDROLYSING-RXN KEGG_REACTION:R00251" "autosomal cone rod dystrophy is an autosomally recessive inherited retinal dystrophy that belongs to the group of pigmentary retinopathies." "Medgen:CN239309" "Quantification of cullin-4B in a sample." "PMID:29875488" - "A monocarboxylic acid anion that is the conjugate base of phenylacetic acid." "UM-BBD_compID:c0211 Reaxys:3539899 Beilstein:3539899 MetaCyc:PHENYLACETATE Gmelin:327522" + "A monocarboxylic acid anion that is the conjugate base of phenylacetic acid." "UM-BBD_compID:c0211 Reaxys:3539899 MetaCyc:PHENYLACETATE Gmelin:327522" "A promyelocyte with a nucleus that is indented and contains more marginated heterochromatin compared to its precursor cell (myeloblast); cytoplasm is deeply basophilic and contains numerous mitochondria and meandering cysternae of endoplasmic reticulum; largest of the granulocyte lineages." "FMA:83533" "MEDGEN:41426 SCTID:79471008 UMLS:C0011057" @@ -45815,7 +45467,7 @@ "A drug used to prevent nausea or vomiting. An antiemetic may act by a wide range of mechanisms: it might affect the medullary control centres (the vomiting centre and the chemoreceptive trigger zone) or affect the peripheral receptors." "SNOMEDCT:52017007 Wikipedia:Antiemetic MeSH:D000932 SNOMEDCT:372764000" "Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision." "UMLS:C2937228 SNOMEDCT_US:420990001 UMLS:C0241688" "An abnormality of the lens." "UMLS:C0549651 UMLS:C0023308 SNOMEDCT_US:10810001" - "An organic heterobicyclic compound that consists of 2-oxohexahydro-1H-thieno[3,4-d]imidazole having a valeric acid substituent attached to the tetrahydrothiophene ring. The parent of the class of biotins." "PMID:9164991 Drug_Central:373 PMID:11481419 PMID:8333586 COMe:MOL000144 PMID:9416479 PMID:12803839 PMID:21871906 PMID:18509457 PMID:12070309 PMID:21248194 PMID:11800048 LINCS:LSM-3994 PMID:10064317 PMID:21356565 PMID:15202718 PMID:18452485 KNApSAcK:C00000756 PMID:11435506 PDBeChem:BTN PMID:8750932 CAS:58-85-5 PMID:17297119 PMID:1814646 PMID:18202531 Wikipedia:Biotin PMCID:PMC8089577 PMID:15899401 PMID:15863846 Reaxys:86838 PMID:16419467 PMID:21373679 PMID:16195795 PMID:15272000 DrugBank:DB00121 FooDB:FDB014510 HMDB:HMDB0000030 Chemspider:149962 PMID:2100006 PMID:19928962 PMID:12055344 PMID:15992684 PMID:19319844 PMID:20974274 PMID:16704206 PMID:15690449 PMID:16769720 PMID:9094878 PMID:9176832 PMID:25515858 PMID:10215065 KEGG:C00120 PMID:9371938 MetaCyc:BIOTIN PMID:19727438 PMID:16676358 PMID:16011464 PMID:16677798 PMID:33461365 PMID:10577274 PMID:34077272 PMID:33346513 PMID:21596550 PMID:20967359 PMID:12603856 KEGG:D00029 PMID:15012185 Gmelin:1918703 PMID:9038855 Beilstein:86838 PMID:19212411 PMID:9022537" + "An organic heterobicyclic compound that consists of 2-oxohexahydro-1H-thieno[3,4-d]imidazole having a valeric acid substituent attached to the tetrahydrothiophene ring. The parent of the class of biotins." "PMID:9164991 Drug_Central:373 PMID:11481419 PMID:8333586 COMe:MOL000144 PMID:9416479 PMID:12803839 PMID:21871906 PMID:18509457 PMID:12070309 PMID:21248194 PMID:11800048 LINCS:LSM-3994 PMID:10064317 PMID:21356565 PMID:15202718 PMID:18452485 KNApSAcK:C00000756 PMID:11435506 PDBeChem:BTN PMID:8750932 CAS:58-85-5 PMID:17297119 PMID:1814646 PMID:18202531 Wikipedia:Biotin PMCID:PMC8089577 PMID:15899401 PMID:15863846 Reaxys:86838 PMID:16419467 PMID:21373679 PMID:16195795 PMID:15272000 DrugBank:DB00121 FooDB:FDB014510 HMDB:HMDB0000030 Chemspider:149962 PMID:2100006 PMID:19928962 PMID:12055344 PMID:15992684 PMID:19319844 PMID:20974274 PMID:16704206 PMID:15690449 PMID:16769720 PMID:9094878 PMID:9176832 PMID:25515858 PMID:10215065 KEGG:C00120 PMID:9371938 MetaCyc:BIOTIN PMID:19727438 PMID:16676358 PMID:16011464 PMID:16677798 PMID:33461365 PMID:10577274 PMID:34077272 PMID:33346513 PMID:21596550 PMID:20967359 PMID:12603856 KEGG:D00029 PMID:15012185 Gmelin:1918703 PMID:9038855 PMID:19212411 PMID:9022537" "A squamous cell carcinoma that involves the oropharynx." "NCIT:C8181 MEDGEN:76094 Orphanet:500478 ONCOTREE:OPHSC GARD:17928 UMLS:C0280313 icd11.foundation:839740136" "OMIM:615767 OMIM:613148 OMIM:612567 ICD10:K52.8" "Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining)." "SNOMEDCT_US:41841004 UMLS:C0002896" @@ -45844,7 +45496,7 @@ "Posterior-most portion of the alimentary canal, terminating in the anus." "BTO:0001158 TGMA:0001028 TADS:0000166 EHDAA:5836 EV:0100081 XAO:0000238 FMA:14544 MAT:0000050 SAEL:88 EMAPA:17896 WBbt:0005773 FBbt:00005756 MA:0000336" "Sudden ISCHEMIA in the RETINA due to blocked blood flow through the CENTRAL RETINAL ARTERY or its branches leading to sudden complete or partial loss of vision, respectively, in the eye." "MedDRA:10038827 DOID:8483 MONDO:0006948 SNOMEDCT:232035005 NCIT:C34978 MESH:D015356 MEDGEN:11208 SCTID:232035005 UMLS:C0035302 MeSH:D015356 NCIt:C34978" "The amount of a homeobox protein DLX-3 when measured in blood serum." - "Loss of intellectual abilities interfering with an individual's social and occupational functions. Causes include Alzheimer's disease, brain injuries, brain tumors, and vascular disorders." "MESH:D003704 MEDGEN:99229 DOID:1307 NCIT:C4786 ICD9:294.1 ICD9:294.8 SCTID:52448006 UMLS:C0497327 ICD9:290.8 HP:0000726 icd11.foundation:546689346" + "Loss of intellectual abilities interfering with an individual's social and occupational functions. Causes include Alzheimer's disease, brain injuries, brain tumors, and vascular disorders." "MESH:D003704 MEDGEN:99229 DOID:1307 NCIT:C4786 ICD9:294.1 ICD9:294.8 UMLS:C0497327 SCTID:52448006 ICD9:290.8 HP:0000726 icd11.foundation:546689346" "The weight of all organs and tissue in an individual less the weight of the individual's body fat." "SNOMEDCT:248362003 NCIt:C71258" "The determination of the amount of hemoglobin C present in a sample. [ NCI ]" "NCIt:C92261 UMLS:C1275423" @@ -46016,11 +45668,10 @@ "Quantification of the amount of Hydantoin-5-propionic acid in a sample." "PMID:35050183" "epidermolysis bullosa not inherited at birth, most commonly presents as an acquired form of mechanobullous disorder. It is a very rare disease in which tense blisters appear at sites of trauma." "ICD10CM:L12.3 NANDO:1200635 UMLS:C0079293 Orphanet:46487 DOID:4313 GARD:6360 MESH:D016107 MONDO:0018747 SCTID:2772003 MEDGEN:37178 icd11.foundation:2034586329 MedDRA:10056508 NCIT:C84690 ICD9:695.19" "Any retinopathy caused by an autosomal dominant variant in the IMPG1 gene." - "Signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction." "MONDO:0005542 UMLS:C0948089 MeSH:D054058 SNOMEDCT:394659003 MESH:D054058 MEDGEN:215295 NCIt:C53652 SCTID:394659003 MedDRA:10051592 NCIT:C53652" + "Signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction." "MONDO:0005542 UMLS:C0948089 MeSH:D054058 SNOMEDCT:394659003 MESH:D054058 NCIt:C53652 MEDGEN:215295 SCTID:394659003 MedDRA:10051592 NCIT:C53652" "The amount of a alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase when measured in blood serum." "Inhaling and exhaling the smoke of tobacco or something similar to tobacco." "NCIt:C20134 MeSH:D012907" "The amount of a gastrokine-1 when measured in blood." "PMID:37794183" - "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom fever, has_symptom cough, has_symptom coryza, has_symptom conjunctivitis, and has_symptom maculopapular, erythematous rash. [ url:http://en.wikipedia.org/wiki/Measles ]" "MEDGEN:6252 MESH:D008457 NCIT:C96406 UMLS:C0025007 DOID:8622 icd11.foundation:1826431497 ICD9:055 ICD10CM:B05 MedDRA:10027011 MONDO:0004619 SCTID:14189004" "Subsarcolemmal, eosinophilic glass-like regions in the cytoplasm of muscle fibers. Hyaline bodies show significant reactivity to myofibrillar ATPase after acid pre-incubation and with immunohistochemistry, show intense reactivity with only slow myosin heavy chain. Electron microscopy of the affected areas show a lack of myofibrils and a uniform, finely granular matrix, sometimes suggesting a filamentous nature, containing few scattered nuclei and mitochondria." "UMLS:C4022155" @@ -46103,7 +45754,7 @@ "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AP3B2 gene." "UMLS:C4310637 DOID:0080448 MEDGEN:934604 GARD:16218 OMIM:617276" "Quantification of the amount of endrin in a sample." "PMID:36006120" "A epilepsy syndrome that occurs during childhood." "MEDGEN:1843031 Orphanet:98259 UMLS:C5681526 GARD:19437" - "A member of the class of benzimidazoles that is the methyl ester of [1-(butylcarbamoyl)-1H-benzimidazol-2-yl]carbamic acid. A foliar fungicide used to control a wide range of Ascomycetes and Fungi Imperfecti in a wide range of crops." "KEGG:C10896 MeSH:D001542 PMID:25145128 NCIt:C47780 PPDB:66 SNOMEDCT:411379009 Pesticides:benomyl PMID:24693254 Reaxys:825455 PMID:24782104 PMID:15813220 Beilstein:825455 Wikipedia:Benomyl PMID:25104429 PMID:25045800 HMDB:HMDB0031767 CAS:17804-35-2 PMID:16903866 PMID:19049291 SNOMEDCT:48041007" + "A member of the class of benzimidazoles that is the methyl ester of [1-(butylcarbamoyl)-1H-benzimidazol-2-yl]carbamic acid. A foliar fungicide used to control a wide range of Ascomycetes and Fungi Imperfecti in a wide range of crops." "KEGG:C10896 MeSH:D001542 PMID:25145128 NCIt:C47780 PPDB:66 SNOMEDCT:411379009 Pesticides:benomyl PMID:24693254 Reaxys:825455 PMID:24782104 PMID:15813220 Wikipedia:Benomyl PMID:25104429 PMID:25045800 HMDB:HMDB0031767 CAS:17804-35-2 PMID:16903866 PMID:19049291 SNOMEDCT:48041007" "MEDGEN:1715031 OMIM:618868 UMLS:C5394335" "The amount of a RING finger protein 150 when measured in blood serum." "Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986." "MESH:C535688 GARD:4729 UMLS:C1868309 MEDGEN:358176 Orphanet:3104 OMIM:172880" @@ -46119,7 +45770,6 @@ "The determination of the amount of parathyroid hormone-related protein in a sample" "PMID:28240269" "BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" "A disease involving the female reproductive system." "UMLS:C0236100 SCTID:310789003 ICD10:N89 ICD10:N94 MONDO:0002263 NCIt:C27020 ICD9:629.9 NCIT:C27020 ICD10:N85 MESH:D005831 MEDGEN:65928 DOID:229 ICD10:N88 ICD10:N90 MeSH:D005831" - "A neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation." "SNOMEDCT:87364003 MedDRA:10029260 NANDO:2200040 Orphanet:635 ONCOTREE:NBL NCIT:C3270 ICDO:9500/3 NCIt:C3270 OMIM:613014 MONDO:0005072 OMIM:613013 NIFSTD:birnlex_12631 MESH:D009447 UMLS:C0027819 MeSH:D009447 MEDGEN:18012 OMIM:256700 SCTID:432328008 GARD:7185 DOID:769 SNOMEDCT:432328008" "A(n) primordium that develops into some larval visceral muscle cell. It develops from some visceral mesoderm." "FBbt:00005519" "UMLS:C3280646 MEDGEN:482276" @@ -46145,7 +45795,7 @@ "The amount of a paired immunoglobulin-like type 2 receptor beta when measured in blood serum." "Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness." "ICD9:362.10 Orphanet:891 OMIMPS:133780 SCTID:232063007 UMLS:C0339539 MESH:C580083 DOID:0050535 MEDGEN:573220 GARD:1613" "The amount of a immunoglobulin superfamily member 2 when measured in blood." "PMID:37794183" - "A 2-hydroxy monocarboxylic acid that is lactic acid in which one of the methyl hydrogens has been replaced by an imidazol-5-yl group." "Gmelin:464711 PMID:6017775 Reaxys:7795 Beilstein:7795 PMID:22770225 PMID:6333900 CAS:30581-88-5 PMID:13220477 KEGG:C05568" + "A 2-hydroxy monocarboxylic acid that is lactic acid in which one of the methyl hydrogens has been replaced by an imidazol-5-yl group." "Gmelin:464711 PMID:6017775 Reaxys:7795 PMID:22770225 PMID:6333900 CAS:30581-88-5 PMID:13220477 KEGG:C05568" "OMIM:615471 ICD10:E88.8" "Any leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene." "OMIM:213002 MESH:C535353 DOID:0060797 GARD:18624 MEDGEN:482274 UMLS:C3280644 Orphanet:85186 OMIM:614381" "Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." "SNOMEDCT:49872002 MeSH:D014780 MO:372 NCIt:C14283" @@ -46263,12 +45913,11 @@ "Autosomal dominant form of polycystic kidney disease." "OMIM:618061 MONDO:0004691 NANDO:2200153 MeSH:D016891 MedDRA:10036046 ICD9:753.13 OMIM:600666 icd11.foundation:91220434 NORD:828 DOID:898 NCIt:C84578 MEDGEN:88404 UMLS:C0085413 MESH:D016891 GARD:10413 SCTID:765330003 SNOMEDCT:28728008 NANDO:1200368 NCIT:C84578 ICD9:753.12 Orphanet:730" - "Catalysis of the reaction: D-ribose 5-phosphate + ATP = 5-phospho-alpha-D-ribose 1-diphosphate + AMP + 2 H+." "MetaCyc:PWY0-662 EC:2.7.6.1 KEGG_REACTION:R01049 Reactome:R-HSA-73580 RHEA:15609 Reactome:R-HSA-111215 MetaCyc:PRPPSYN-RXN" + "Catalysis of the reaction: D-ribose 5-phosphate + ATP = 5-phospho-alpha-D-ribose 1-diphosphate + AMP + 2 H+." "EC:2.7.6.1 KEGG_REACTION:R01049 Reactome:R-HSA-73580 RHEA:15609 Reactome:R-HSA-111215 MetaCyc:PRPPSYN-RXN" "A rare circumscribed, non-encapsulated and grossly pigmented nerve sheath tumor. It is composed of cells with the immunophenotypic and electron microscopic features of Schwann cells which contain melanosomes and are positive for melanoma markers. It usually involves spinal nerve roots but may occur in other locations. It may be associated with PRKAR1A gene mutation and Carney complex. Malignant behavior has been reported in a significant number of patients." "NCIT:C6970 MEDGEN:266292 DOID:3205 SCTID:404024000 ONCOTREE:MSCHW UMLS:C1306247 ICD9:215.8" "MEDGEN:1842523 UMLS:C5680514 Orphanet:171895 GARD:20130" "DOID:0070424 OMIM:618855 MEDGEN:1718899 UMLS:C5394293" - "A base unit which is a standard measure of the average kinetic energy of the particles in a sample of matter." "MO:48" "The amount of a phosphoribosyltransferase domain-containing protein 1 when measured in blood serum." "MEDGEN:1667811 UMLS:C4755302 GARD:17596 Orphanet:370002" @@ -46332,7 +45981,7 @@ "A RNA extract that is the output of an extraction process in which RNA molecules without poly A tail at its 3’ end are purified." "The chemical reactions and pathways involving sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid)." - "A paired organ of the urinary tract that produces urine and maintains bodily fluid homeostasis, blood pressure, pH levels, red blood cell production and skeleton mineralization." "BTO:0000671 UMLS:C0022646 MIAA:0000119 galen:Kidney XAO:0003267 MESH:D007668 CALOHA:TS-0510 Wikipedia:Kidney GAID:423 MAT:0000119 AAO:0000250" + "A paired organ of the urinary tract that produces urine and maintains bodily fluid homeostasis, blood pressure, pH levels, red blood cell production and skeleton mineralization." "BTO:0000671 UMLS:C0022646 MIAA:0000119 galen:Kidney XAO:0003267 MESH:D007668 CALOHA:TS-0510 Wikipedia:Kidney MAT:0000119 GAID:423 AAO:0000250" "A neoplasm with neuroendocrine differentiation arising from the digestive system. It includes neuroendocrine tumors (well-differentiated endocrine tumors or carcinoid tumors and well differentiated endocrine carcinomas) and neuroendocrine carcinomas (poorly differentiated neuroendocrine carcinomas, small cell carcinomas, and large cell neuroendocrine carcinomas)." "UMLS:C1333799 MESH:C535650 MEDGEN:232237 Orphanet:100092 NCIT:C27721 GARD:2437" "An acute inflammatory process affecting the larynx. It is caused by bacteria, viruses, or vocal strain. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness." "SCTID:6655004 ICD9:464.0 ICD10CM:J04.0 DOID:9396 MEDGEN:1317 icd11.foundation:1180710837 NCIT:C26688 ICD9:464.01 UMLS:C0001327 ICD9:464.00" @@ -46372,7 +46021,6 @@ "Quantification of the amount of 10-nonadecenoate 19:1n9 in a sample." "PMID:24816252" - "An electric current unit is a base unit which is a standard measure of the flow of electric charge." "The major postaxial endochondral bone in the posterior zeugopod[Phenoscape]." "AAO:0000891 SCTID:302529003 EFO:0003052 BTO:0002346 NCIT:C12718 CALOHA:TS-2203 galen:Fibula UMLS:C0016068 MESH:D005360 GAID:202 Wikipedia:Fibula MA:0001360 EMAPA:19141 FMA:24479" "Muscle-eye-brain (MEB) disease with bilateral multicystic leucodystrophy is a form of congenital muscular alpha-dystroglycanopathy with brain and eye anomaly characterized by severe muscle-eye-brain disease-like phenotype associated with macrocephaly and extended bilateral multicystic white matter disease, overlapping with the cerebral findings in patients with megalencephalic leukoencephalopathy with subcortical cysts." "Orphanet:370997 UMLS:C5191414 MEDGEN:1675257 GARD:17608" "UMLS:C1302848 MEDGEN:724389 Orphanet:497737 SCTID:400142003 GARD:22016" @@ -46403,7 +46051,7 @@ - "Tube that connects the pharynx to the stomach. In mammals, the oesophagus connects the buccal cavity with the stomach. The stratified squamous non-keratinised epithelium lining the buccal cavity is continued through the pharynx down into the oesophagus. The lowest part of the oesophagus (ca. 2 cm) is lined with gastric mucosa and covered by peritoneum. The main body of the oesophagus is lined with small, simple mucous glands. Each gland opens into the lumen by a long duct which pierces the muscularis mucosae (Wilson and Washington, 1989). A sphincter is situated at the point where the oesophagus enters the stomach to prevent gastro-oesophageal reflux, i.e. to prevent acidic gastric contents from reaching stratified epithelia of the oesophagus, where they can cause inflammation and irritation (Wilson and Washington, 1989; Brown et al., 1993)." "galen:Esophagus TAO:0000204 MIAA:0000048 AAO:0000145 MESH:D004947 ANISEED:1235301 Wikipedia:Esophagus EHDAA2:0001285 EV:0100069 EFO:0000835 MA:0000352 FMA:7131 ZFA:0000204 BTO:0000959 CALOHA:TS-0700 GAID:291 UMLS:C0014876 VHOG:0000450 NCIT:C12389 EMAPA:16833 EHDAA:2937 SCTID:181245004 XAO:0000127 MAT:0000048" + "Tube that connects the pharynx to the stomach. In mammals, the oesophagus connects the buccal cavity with the stomach. The stratified squamous non-keratinised epithelium lining the buccal cavity is continued through the pharynx down into the oesophagus. The lowest part of the oesophagus (ca. 2 cm) is lined with gastric mucosa and covered by peritoneum. The main body of the oesophagus is lined with small, simple mucous glands. Each gland opens into the lumen by a long duct which pierces the muscularis mucosae (Wilson and Washington, 1989). A sphincter is situated at the point where the oesophagus enters the stomach to prevent gastro-oesophageal reflux, i.e. to prevent acidic gastric contents from reaching stratified epithelia of the oesophagus, where they can cause inflammation and irritation (Wilson and Washington, 1989; Brown et al., 1993)." "TAO:0000204 galen:Esophagus MIAA:0000048 AAO:0000145 MESH:D004947 ANISEED:1235301 Wikipedia:Esophagus EHDAA2:0001285 EV:0100069 EFO:0000835 MA:0000352 FMA:7131 ZFA:0000204 BTO:0000959 CALOHA:TS-0700 GAID:291 UMLS:C0014876 VHOG:0000450 NCIT:C12389 EMAPA:16833 EHDAA:2937 SCTID:181245004 XAO:0000127 MAT:0000048" "The amount of a keratin-associated protein 2-4 when measured in blood serum." @@ -46422,7 +46070,7 @@ "quantification of the amount of WNT1-inducible-signaling pathway protein 1 in a sample" "Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis." "OMIM:615491 UMLS:C3809665 DOID:0112344 GARD:17523 Orphanet:352654 MEDGEN:815995" - "A muscle organ that consists of skeletal muscle tissue ensheathed in epimysium, that develops from myotome and that is innervated by some somatic motor neuron. Skeletal muscles are typically attached (via a tendon) to a bone but there are exceptions (e.g. intrinsic tongue muscles)." "EHDAA:5035 EHDAA:5043 TAO:0005277 EV:0100377 VHOG:0000319 EFO:0000888 MESH:D018482 GAID:141 AAO:0011099 MIAA:0000302 EMAPA:35988 CALOHA:TS-0933 XAO:0000174 BTO:0001103 ZFA:0005277 MA:0003148 EHDAA:5984 MAT:0000302 EHDAA:5978" + "A muscle organ that consists of skeletal muscle tissue ensheathed in epimysium, that develops from myotome and that is innervated by some somatic motor neuron. Skeletal muscles are typically attached (via a tendon) to a bone but there are exceptions (e.g. intrinsic tongue muscles)." "EHDAA:5978 EHDAA:5035 EHDAA:5043 TAO:0005277 EV:0100377 VHOG:0000319 EFO:0000888 MESH:D018482 GAID:141 AAO:0011099 MIAA:0000302 EMAPA:35988 CALOHA:TS-0933 XAO:0000174 BTO:0001103 ZFA:0005277 MA:0003148 EHDAA:5984 MAT:0000302" "A tocopherol that is chroman-6-ol substituted by methyl groups at positions 2, 5, 7 and 8 and a 4,8,12-trimethyltridecyl group at position 2." "KEGG:D02332 SNOMEDCT:259666007 PMID:24683365 PMID:23949732 Beilstein:8176170 MeSH:D024502 Wikipedia:Alpha-Tocopherol NCIt:C74960 CAS:10191-41-0" "The amount of a calsyntenin-2 when measured in blood serum." "A lymphoma that affects the ovary. Lymphomatous involvement of the ovary is rare and in approximately half of the cases both ovaries are affected." "NCIT:C40021 MEDGEN:276669 UMLS:C1518720 DOID:2150" @@ -46509,7 +46157,6 @@ "An abnormal amount of urine production." "UMLS:C3693260" - "A liquid_handler is an instrument used for automated liquid transfer and handling." "MO:868" "Lobular organ which has as its parts alveoli connected to the tracheobronchial tree. Examples: There are only two instances, right lung and left lung." "EV:0100042 EHDAA:2205 AAO:0000275 XAO:0000119 SAEL:62 MAT:0000135 FMA:7195 EMAPA:16728 BTO:0000763 MA:0000415" "The regulated release of norepinephrine by a cell, in which the norepinephrine acts as a neurotransmitter." "The amount of a methylthioribose-1-phosphate isomerase when measured in blood." "PMID:37794183" @@ -46595,7 +46242,6 @@ "NCIt:C67311" "A condition characterized by fever, conjunctivitis, and pharyngitis resulting from infection by adenovirus." "SCTID:70385007 DOID:13801 UMLS:C0031351 MEDGEN:14722 MedDRA:10034842 NCIT:C34924 MeSH:D000258 ICD9:077.2 MONDO:0005911 MESH:D000258" "A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds, among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis, as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases." "GARD:16075 Orphanet:562528 DOID:0081048 OMIM:616266 UMLS:C4225398 MONDO:0014556 MEDGEN:907234" - "Acute or chronic inflammation of tissues surrounding the apical portion of a tooth, associated with the collection of pus, resulting from infection following pulp infection through a carious lesion or as a result of an injury causing pulp necrosis. (Dorland, 27th ed)" "UMLS:C0031024 NCIT:C34913 MESH:D010482 MEDGEN:10652 MedDRA:10049607 MeSH:D010482 DOID:2562 MONDO:0006989" "Quantification of the amount of dihomo-linoleate 20:2n6 in a sample." "PMID:24816252" "The amount of a SRSF protein kinase 2 when measured in blood." "PMID:37794183" "Cancer cell of the major organ of respiration the lung." @@ -46775,7 +46421,7 @@ "A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic intellectual disability, while syndromic intellectual disability presents with associated physical, neurological and/or psychiatric manifestations. MRT72 patients manifest moderate to severe intellectual disability, microcephaly, and dysmorphic facial features." "OMIM:618665" "Purpura (from Latin: purpura, meaning purple) is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae." "DOID:3326 ICD10:D69 MeSH:D011693 Wikipedia:Purpura NCIt:C78787 SNOMEDCT_US:387778001 UMLS:C0034150 SNOMEDCT_US:423902002 SNOMEDCT_US:12393003" - "A benzimidazolecarboxylic acid that is 1H-benzimidazole-7-carboxylic acid substituted by an ethoxy group at position 2 and a ({2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl}methyl) group at position 1. It is a angiotensin receptor antagonist used for the treatment of hypertension." "Wikipedia:Candesartan SNOMEDCT:372512008 Reaxys:6377719 Patent:US5196444 DrugBank:DB00796 HMDB:HMDB0014934 CAS:139481-59-7 KEGG:D00522 Patent:EP459136 SNOMEDCT:108587008 KEGG:C07468 Beilstein:6377719 LINCS:LSM-5903 MeSH:C081643 PMID:23713902 NCIt:C65284 PMID:24464858" + "A benzimidazolecarboxylic acid that is 1H-benzimidazole-7-carboxylic acid substituted by an ethoxy group at position 2 and a ({2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl}methyl) group at position 1. It is a angiotensin receptor antagonist used for the treatment of hypertension." "Wikipedia:Candesartan SNOMEDCT:372512008 Reaxys:6377719 Patent:US5196444 DrugBank:DB00796 HMDB:HMDB0014934 CAS:139481-59-7 KEGG:D00522 Patent:EP459136 SNOMEDCT:108587008 KEGG:C07468 LINCS:LSM-5903 MeSH:C081643 PMID:23713902 NCIt:C65284 PMID:24464858" "A thermodynamic temperature unit which is equal to the fraction 1/273.16 of the thermodynamic temperature of the triple point of water." "SNOMEDCT:257991000 SNOMEDCT:257968004 NCIt:C42537 MO:614" "The amount of a S-adenosylmethionine sensor upstream of mTORC1 when measured in blood serum." @@ -46888,7 +46534,6 @@ "The amount of a serine protease inhibitor Kazal-type 2 when measured in blood serum." - "An extrapulmonary tuberculosis that is located_in urogenital system." "ICD9:016.9 UMLS:C0041333 SCTID:4445009 MESH:D014401 MeSH:D014401 DOID:2149 MEDGEN:11950 ICD9:016.92 ICD9:016 ICD9:016.90 MONDO:0006002" "The amount of a mediator of RNA polymerase II transcription subunit 10 when measured in blood serum." @@ -46936,8 +46581,8 @@ "A partial dislocation of a joint." "Quantification of NAD kinase in a sample." "PMID:29875488" - "A medium-chain fatty acid anion that is the conjugate base of heptanoic acid; shown in myocardial ischaemia/reperfusion studies to increase levels of C4 Kreb's cycle intermediates." "Reaxys:3903940 MetaCyc:CPD-7619 Beilstein:3903940 Gmelin:327115 CAS:7563-37-3 PMID:16141384" - "A disease involving the prostate gland. [ MONDO:DesignPattern ]" "ICD9:602.8 MEDGEN:10964 ICD9:602.9 ICD10:N42 UMLS:C0033575 MESH:D011469 DOID:47 NCIT:C26865 SCTID:30281009 MONDO:0003105" + "A medium-chain fatty acid anion that is the conjugate base of heptanoic acid; shown in myocardial ischaemia/reperfusion studies to increase levels of C4 Kreb's cycle intermediates." "Reaxys:3903940 MetaCyc:CPD-7619 Gmelin:327115 CAS:7563-37-3 PMID:16141384" + "A disease involving the prostate gland. [ MONDO:DesignPattern ]" "ICD9:602.8 MEDGEN:10964 ICD9:602.9 ICD10:N42 UMLS:C0033575 DOID:47 MESH:D011469 NCIT:C26865 SCTID:30281009 MONDO:0003105" "The amount of a beta-defensin 103 when measured in blood serum." "An acute infectious process that affects the brain tissue. It is usually caused by viruses and less often by bacteria, parasites, and fungi." "UMLS:C0596773 ICD9:323.4 MESH:D000069544 SCTID:312215006 ICD9:049.8 MEDGEN:108917 NCIT:C79550" @@ -46974,7 +46619,6 @@ "Transplantation between animals of different species." "MeSH:D014183 MeSH:D064593 SNOMEDCT:67650000 NCIt:C12932" "The amount of a NTF2-related export protein 2 when measured in blood serum." - "Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more." "ICD10:O10 NCIT:C3117 NCIt:C3117 ICD10CM:I10-I16 MONDO:0005044 ICD9:401-405.99 UMLS:C0020538 ICD10CM:I15 SCTID:38341003 MEDGEN:6969 MESH:D006973 MedDRA:10020772 HP:0000822 ICD9:997.91 MeSH:D006973 OMIM:145500 DOID:10763" "A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Sporothrix schenckii in animals and humans and results_in_formation_of red papule at the site of inoculation." "MEDGEN:21298 MONDO:0005968 MESH:D013174 MedDRA:10041736 UMLS:C0038034 ICD10CM:B42 Orphanet:826 ICD9:117.1 DOID:14484 icd11.foundation:579570784 SCTID:42094007 MeSH:D013174 GARD:7692" "The amount of a peroxisomal acyl-coenzyme A oxidase 1 when measured in blood." "PMID:37794183" "A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Chlamydia psittaci, which is transmitted_by inhaling aerosolized dried droppings or transmitted_by contact with infected birds. The infection has_symptom fever, has_symptom headache, has_symptom rash, has_symptom chills, and has_symptom pneumonia." "ICD9:073 MedDRA:10031088 MESH:D009956 MONDO:0005888 MeSH:D009956 MEDGEN:18198 DOID:11262 NCIT:C34873 UMLS:C0029291 ICD9:073.9 SCTID:75116005 Orphanet:660053 MedDRA:10031092" @@ -47263,7 +46907,6 @@ "Quantification of pituitary adenylate cyclase-activating polypeptide in a sample." "PMID:29875488" "Quantification of the amount of X-13007 in a sample." "PMID:35347128" - "New blood vessels originating from the corneal veins and extending from the limbus into the adjacent CORNEAL STROMA. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as TRACHOMA, viral interstitial KERATITIS, microbial KERATOCONJUNCTIVITIS, and the immune response elicited by CORNEAL TRANSPLANTATION." "MeSH:D016510 MESH:D016510 UMLS:C0085109 SNOMEDCT:19161004 MEDGEN:43103 ICD9:370.60 icd11.foundation:2077068570 DOID:11382 SCTID:19161004 MONDO:0006713 MedDRA:10011031 ICD9:370.6 MedDRA:10011032" "Presence of a hole or tear in the tympanic membrane (eardrum)." "MedDRA:10045210 MP:0030414 ICD10:H72" "Fibrosis associated with cyst formation in the breast parenchyma." "MEDGEN:42015 ICD10:N60 ICD9:610.1 ICD10:N60.1 EFO:0003014 COHD:78804 MESH:D005348 NCIT:C3039 MONDO:0005219 UMLS:C0016034 DOID:10354" "The determination of the amount of serine/threonine-protein kinase MRCK beta in a sample" "PMID:28240269" @@ -47303,7 +46946,7 @@ "GAZ:00002839" "NCIt:C14210 MeSH:D006041 SNOMEDCT:125097000" "The amount of a NADH-cytochrome b5 reductase 1 when measured in blood serum." - "An N-acyl-L-aspartic acid in which the acyl group is specified as acetyl." "PMID:2272391 KEGG:C01042 PMID:19816853 PMID:22284151 Reaxys:1726198 PMID:19445994 Wikipedia:N-acetylaspartic_acid CAS:997-55-7 PMID:20946933 PMID:17190852 HMDB:HMDB0000812 PMID:20362635 PMID:6131106 MetaCyc:CPD-420 PMID:21608034 PMID:2324740 Beilstein:1726198 PMID:22770225 PMID:1583881 PMID:17703473 PMID:21920405 PMID:1400776 PMID:21547934" + "An N-acyl-L-aspartic acid in which the acyl group is specified as acetyl." "PMID:2272391 KEGG:C01042 PMID:19816853 PMID:22284151 Reaxys:1726198 PMID:19445994 Wikipedia:N-acetylaspartic_acid CAS:997-55-7 PMID:20946933 PMID:17190852 HMDB:HMDB0000812 PMID:20362635 PMID:6131106 MetaCyc:CPD-420 PMID:21608034 PMID:2324740 PMID:22770225 PMID:1583881 PMID:17703473 PMID:21920405 PMID:1400776 PMID:21547934" "The determination of the amount of interleukin-3 receptor subunit alpha in a sample" "PMID:28240269" "A congenital gingival tumor that occurs along the alveolar ridge of the maxilla. It usually affects female infants. The histogenesis is unknown. Morphologically, it is characterized by the presence of large cells with eosinophilic granular cytoplasm. Complete surgical resection is curative." "icd11.foundation:1616915738 DOID:8303 NCIT:C4675 MEDGEN:83962 DOID:7280 GARD:20016 MESH:D005887 Orphanet:157826 UMLS:C0376319 SCTID:360525006" @@ -47392,7 +47035,7 @@ "Replacement bone that is bilaterally paired and articulates anteriorly with the anterior ceratohyal." "ZFA:0000627" "A horizontal cleft of the face, varying from slight widening of the mouth, to a cleft extending to the ear." "UMLS:C4020954" - "A L-methionine derivative in which one of the hydrogens attached to the nitrogen is replaced by a formyl group." "DrugBank:DB04464 Wikipedia:Formylmethionine MetaCyc:N-FORMYLMETHIONINE HMDB:HMDB0001015 PDBeChem:FME KEGG:C03145 CAS:4289-98-9 PMID:22770225 Beilstein:1725218 Reaxys:1725218" + "A L-methionine derivative in which one of the hydrogens attached to the nitrogen is replaced by a formyl group." "DrugBank:DB04464 Wikipedia:Formylmethionine MetaCyc:N-FORMYLMETHIONINE HMDB:HMDB0001015 PDBeChem:FME KEGG:C03145 CAS:4289-98-9 PMID:22770225 Reaxys:1725218" "A benign, borderline, or malignant neoplasm that affects the penis. Representative examples include penile hemangioma, penile intraepithelial neoplasia, and penile carcinoma." "NCIT:C3317 MedDRA:10061913 MESH:D010412 SCTID:126896003 MONDO:0006895 EFO:1001094 ONCOTREE:PENIS ICD9:239.5 MEDGEN:14656 DOID:11624 UMLS:C0030849" "Anatomical structure which is a primary subdivision of whole organism. The mereological sum of these is the whole organism." "FMA:67504 TAO:0001308 NCIt:C32221 EV:0100008 MAT:0000293 XAO:0003013" "The ratio of right ventricular diastolic volume to left ventricular diastolic volume." "PMID:35697867" @@ -47452,7 +47095,6 @@ "Quantification of some aspect of the use of antihypertensives." "PMID:31015401" "The amount of a uncharacterized protein C19orf84 when measured in blood serum." - "an acute, sometimes recurrent disease caused by a bacterial infection, characterized by large raised red patches on the skin." "UMLS:C0014733 SCTID:44653001 MedDRA:10015145 MESH:D004886 DOID:11330 ICD9:035 icd11.foundation:1651247891 ICD10CM:A46 MEDGEN:41855 HP:0001055 MONDO:0001266" "MEDGEN:488851 ICD9:242.00 UMLS:C0342122 SCTID:267374005 DOID:10719" "Quantification of the severity of sciatica symptoms in patients with lumbar disc herniation. In the case of persistent progressive severe sciatica symptoms, patients may require surgical intervention via microdiscectomy, a minimally invasive spinal surgery for removal of herniated lumbar disc tissue." "PMID:28223688" @@ -47577,7 +47219,6 @@ "The amount of a deoxycytidine kinase when measured in blood serum." "A trait that affects the response to a stimulus with mercaptopurine." "The amount of a Fc receptor-like protein 1 when measured in blood serum." - "A condition of BRONCHOCONSTRICTION resulting from hypersensitive reaction to inhaled dust during the initial processing of cotton, flax, or hemp in the textile industry. Symptoms include wheezing and tightness in the chest." "ICD9:504 MedDRA:10006822 UMLS:C0006542 ICD10:J66.0 MeSH:D002095 NCIt:C84605 NCIT:C84605 MONDO:0006688 SNOMEDCT:85761009 DOID:10323 ICD10CM:J66.0 MEDGEN:2769 SCTID:13151001 GARD:5976 MESH:D002095" "human melanoma cell line from a 26 year old Caucasian male (ATCC HTB-137)" "Quantification of prolyl 4-hydroxylase subunit alpha-1 in a sample." "PMID:29875488" "OMIMPS:210900" @@ -47762,7 +47403,6 @@ "A scoliosis with no known cause." "UMLS:C0595995 MEDGEN:671079 DOID:0060250 SCTID:203639008" "Choroideremia-deafness-obesity syndrome is an X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state." "GARD:369 OMIM:303110 MESH:C537793 UMLS:C3551019 Orphanet:1435 SCTID:717761005 MEDGEN:763933" "Quantification of nuclear receptor coactivator 2 in a sample." "PMID:29875488" - "A microsecond is a time unit which is equal to one millionth of a second or 10^-6 s." "SNOMEDCT:258698007 MO:795 NCIt:C69149" "The amount of a protein disulfide isomerase CRELD1 when measured in blood." "PMID:37794183" "The protruding lymphoid tissue located on the mucosa of the intestine that is composed of densely packed B cell follicles." "GAID:950 MA:0000137 EFO:0001381 EMAPA:19028 UMLS:C0031272 Wikipedia:Peyer's_patch BTO:0001784 NCIT:C12771 CALOHA:TS-0780 MESH:D010581" "A surgical technique used by medical professionals to extract mature eggs directly from an ovary with the guidance of ultrasound imaging." @@ -47868,7 +47508,6 @@ "The procedure used to obtain something from a mixture or compound by chemical or physical or mechanical means, e.g. DNA/RNA extraction" - "Spasm of the large- or medium-sized coronary arteries." "MESH:D003329 ICD9:413.9 UMLS:C0010073 MONDO:0005356 DOID:11840 SCTID:23687008 MEDGEN:3626 MedDRA:10011110 NCIt:C34515 MeSH:D003329" "The amount of a 2-iminobutanoate/2-iminopropanoate deaminase when measured in blood." "PMID:37794183" "The amount of a leiomodin-2 when measured in blood." "PMID:37794183" "The amount of a carbohydrate sulfotransferase 5 when measured in blood serum." @@ -48157,7 +47796,7 @@ "An N-acetyl-amino acid that is tyrosine with an amine hydrogen substituted by an acetyl group." "Reaxys:3206104 HMDB:HMDB0000866 PMID:22770225" "A non-metastasizing neoplasm arising from the breast parenchyma." "ICD9:217 MEDGEN:91085 NCIT:C4505 SCTID:269485000 UMLS:C0346156 DOID:0060082" "The amount of a baculoviral IAP repeat-containing protein 7 when measured in blood serum." - "A benign neoplasm arising from nerve sheaths. It is characterized by the presence of a myxoid stroma." "MESH:D018321 UMLS:C0206730 NCIT:C7018 MEDGEN:64641 ICDO:9562/0 MONDO:0006317 EFO:1000394" + "A benign neoplasm arising from nerve sheaths. It is characterized by the presence of a myxoid stroma." "UMLS:C0206730 NCIT:C7018 MEDGEN:64641 ICDO:9562/0 MONDO:0006317 EFO:1000394 MESH:D018321" "The Illumina NovaSeq 6000 is a high-throughput sequencing machine developed by Illumina." @@ -48167,7 +47806,6 @@ "McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations." "OMIM:236700 DOID:0111255 ICD9:758.89 SCTID:702407009 Orphanet:2473 MESH:C538159 MedDRA:10052312 UMLS:C0948368 GARD:3427 MEDGEN:184924" "The amount of a E3 ubiquitin-protein ligase RNF34 when measured in blood serum." "The amount of a secretory carrier-associated membrane protein 3 when measured in blood." "PMID:38565889" - "A pneumoconiosis that is an inflammation and scarring of the uper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles." "NCIT:C3369 MedDRA:10040678 MeSH:D012829 MEDGEN:20758 SCTID:805002 MESH:D012829 UMLS:C0037116 ICD9:502 MONDO:0005960 DOID:10325 GARD:7647" "Quantification of the amount of C36:3 phosphatidylethanolamine plasmalogen in a sample." "PMID:35995766" "Apparently health human non-fetal tissue." "http://ccr.coriell.org/Sections/Search/Sample_Detail.aspx?Ref=GM00038&PgId=166" "MAB-seq allows simultaneous and quantitative mapping of both 5fC and 5caC at single-base resolution" "PMID:25362244" @@ -48191,7 +47829,7 @@ "Lymphoblastoid cell line from an Esan female from Nigeria" "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG02970&Product=CC" "A quality control testing study design type is where some aspect of the experiment is quality controlled for the purposes of quality assurance." "MO:981" "An autosomal recessive mucolipidosis disorder caused by bi-allelic variants in the GNPTAB gene. Symptoms of this condition occur across a clinical spectrum including mucolipidosis type II (ML II) and mucolipidosis type III alpha/beta (ML IIIα/β), and phenotypes intermediate between ML II and ML IIIα/β." - "A penicillin in which the substituent at position 6 of the penam ring is a 2-amino-2-phenylacetamido group." "KEGG:C06574 Patent:US3157640 Patent:US2985648 PDBeChem:PN1 PMID:8020088 PDB:1H8S PMID:18611716 Wikipedia:Ampicillin HMDB:HMDB0014559 PMID:14139119 PMID:19967069 VSDB:1849 PMID:28543395 PMID:12833570 PMID:16033609 PMID:23568176 PMID:24666465 LINCS:LSM-5761 PMID:25998949 Patent:GB902703 PMID:12562703 Drug_Central:198 PMID:10930630 CAS:69-53-4 Beilstein:4300240 PMID:24474427 PMID:14455820 PDBeChem:AIC Reaxys:4300240 PMID:15768449 PMID:12569987 DrugBank:DB00415 PMID:6176550 PMID:2083978 PMID:9433938 PMID:29017833 PMID:23861268 KEGG:D00204" + "A penicillin in which the substituent at position 6 of the penam ring is a 2-amino-2-phenylacetamido group." "KEGG:C06574 Patent:US3157640 Patent:US2985648 PDBeChem:PN1 PMID:8020088 PDB:1H8S PMID:18611716 Wikipedia:Ampicillin HMDB:HMDB0014559 PMID:14139119 PMID:19967069 VSDB:1849 PMID:28543395 PMID:12833570 PMID:16033609 PMID:23568176 PMID:24666465 LINCS:LSM-5761 PMID:25998949 Patent:GB902703 PMID:12562703 Drug_Central:198 PMID:10930630 CAS:69-53-4 PMID:24474427 PMID:14455820 PDBeChem:AIC Reaxys:4300240 PMID:15768449 PMID:12569987 DrugBank:DB00415 PMID:6176550 PMID:2083978 PMID:9433938 PMID:29017833 PMID:23861268 KEGG:D00204" "The amount of a T cell immunoreceptor with Ig and ITIM domains when measured in blood serum." "Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0586 gene." "MEDGEN:900119 GARD:16124 UMLS:C4084822 DOID:0110992 OMIM:616490" @@ -48239,12 +47877,11 @@ "A disorder characterized by excretion of large amounts of urine, accompanied by excessive thirst. Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic hormone. It may also be drug-related." "ICD10CM:E23.2 UMLS:C0011848 NANDO:2100117 NCIT:C43263 DOID:9409 SCTID:15771004 ICD9:253.5 MEDGEN:8349 MESH:D003919" "Cranial nerve fiber tract which is comprised of retinal ganglion cell axons running posterior medially towards the optic chiasm, at which some of the axons cross the midline and after which the structure is termed the optic tract. Transmits visual information from the retina to the brain[ZFA]." "TAO:0000435 EMAPA:17575 NCIT:C12761 FMA:50863 BAMS:2n CALOHA:TS-0713 BIRNLEX:1640 EFO:0004258 MBA:848 XAO:0000188 EHDAA2:0001313 ZFA:0000435 AAO:0010345 EHDAA:6788 DHBA:15544 neuronames:289 BAMS:IIn HBA:9307 GAID:831 Wikipedia:Optic_nerve MA:0001097 VHOG:0000543 SCTID:180938001 UMLS:C0029130 MESH:D009900 BAMS:nII" - "An intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption." "MedDRA:10005166 NCIT:C34431 SCTID:66379009 DOID:10606 ICD9:579.2 MONDO:0005673 icd11.foundation:1719064637 MESH:D001765 MEDGEN:600 MeSH:D001765 UMLS:C0005750" "A neoplasm (disease) that involves the endocardium." "MEDGEN:220938 ICD9:239.89 NCIT:C5346 UMLS:C1290401 SCTID:126731002" "Quantification of probable ATP-dependent RNA helicase DHX58 in a sample." "PMID:29875488" "Quantification of the amount of tumor necrosis factor receptor superfamily member 9 in a sample" "PMID:32641083" "Quantification of microfibril-associated glycoprotein 4 in a sample." "PMID:29875488" - "A dicarboximide that is 4-(2-hydroxyethyl)piperidine-2,6-dione in which one of the hydrogens attached to the carbon bearing the hydroxy group is replaced by a 3,5-dimethyl-2-oxocyclohexyl group. It is an antibiotic produced by the bacterium Streptomyces griseus." "PMID:27192630 PMID:11972861 PMID:25209664 Wikipedia:Cycloheximide Reaxys:88868 SNOMEDCT:71165008 NCIt:C90306 MeSH:D003513 KNApSAcK:C00047211 Beilstein:88868 PMID:26715760 PMID:33101237 LINCS:LSM-2791 KEGG:C06685 PDBeChem:3HE PMID:30154175 PMID:32299921 PMID:30916348 KEGG:D03625 CAS:66-81-9 NCIt:C28776 PMID:16659174 PPDB:1680 PMID:27665925" + "A dicarboximide that is 4-(2-hydroxyethyl)piperidine-2,6-dione in which one of the hydrogens attached to the carbon bearing the hydroxy group is replaced by a 3,5-dimethyl-2-oxocyclohexyl group. It is an antibiotic produced by the bacterium Streptomyces griseus." "PMID:27192630 PMID:11972861 PMID:25209664 Wikipedia:Cycloheximide Reaxys:88868 SNOMEDCT:71165008 NCIt:C90306 MeSH:D003513 KNApSAcK:C00047211 PMID:26715760 PMID:33101237 LINCS:LSM-2791 KEGG:C06685 PDBeChem:3HE PMID:30154175 PMID:32299921 PMID:30916348 KEGG:D03625 CAS:66-81-9 NCIt:C28776 PMID:16659174 PPDB:1680 PMID:27665925" "An instance of metabolic disease that is acquired during the lifetime of the individual." "DOID:0060158 MONDO:0006504" "The switching of latent cytomegalovirus to a lytic infection." "PMID:34269803 NCIT:C160246" @@ -48255,7 +47892,7 @@ "SNOMEDCT_US:247177004 UMLS:C0521683" - "A member of the class of purines that is 6,7-dihydro-1H-purine carrying a thione group at position 6. An adenine analogue, it is used in the treatment of acute lymphocytic leukemia (ALL), chronic myeloid leukemia (CML), Crohn's disease, and ulcerative colitis." "Reaxys:132916 PMID:28301625 DrugBank:DB01033 PMID:28418010 KEGG:D04931 Beilstein:132916 CAS:50-44-2 PMID:28212467 PMID:28166217 PMID:28295989 PMID:16267626 KEGG:C02380 Patent:US2697709 Patent:US2721866 PMID:28406092 PMID:28484608 PMID:28011186 PDBeChem:PM6 PMID:28574837" + "A member of the class of purines that is 6,7-dihydro-1H-purine carrying a thione group at position 6. An adenine analogue, it is used in the treatment of acute lymphocytic leukemia (ALL), chronic myeloid leukemia (CML), Crohn's disease, and ulcerative colitis." "Reaxys:132916 PMID:28301625 DrugBank:DB01033 PMID:28418010 KEGG:D04931 CAS:50-44-2 PMID:28212467 PMID:28166217 PMID:28295989 PMID:16267626 KEGG:C02380 Patent:US2697709 Patent:US2721866 PMID:28406092 PMID:28484608 PMID:28011186 PDBeChem:PM6 PMID:28574837" "An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts." "SCTID:702378002 Orphanet:99880 OMIM:145001 MEDGEN:310065 NCIT:C48287 GARD:10829 UMLS:C1704981" "ZFA:0000633" "Epidermal inclusion cyst (EIC), also known as sebaceous cyst and epidermoid cyst, is the most common cyst of the skin. It ranges in size from a few millimeters to a few centimeters and originates from the follicular infundibulum. Its contents are a cheesy, malodorous mixture of degraded lipid and keratin. It often ruptures, with associated pain and inflammation. (http://www.medicinenet.com/image-collection/epidermal_inclusion_cyst_eic_picture/picture.htm)" "NCIt:C3134 MedDRA:10014984" @@ -48359,7 +47996,7 @@ "Mesomelic dysplasia, Savarirayan type is characterized by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported." "Orphanet:85170 MEDGEN:343129 OMIM:605274 UMLS:C1854470 GARD:10584 MESH:C565349 icd11.foundation:1627637820 SCTID:715652002" "A branched-chain saturated fatty acid that comprises of a propyl substituent on a pentanoic acid stem." "ChemIDplus:1750447 Drug_Central:2803 PMID:8681902 PMID:15124690 PMID:23949302 PMID:17156483 PDBeChem:2PP SNOMEDCT:387080000 PMID:16759735 PMID:19280426 CiteXplore:8681902 PMID:12475192 PMID:8558327 PMID:23810771 KEGG:C07185 PMID:24348849 PMID:15560954 PMID:24135375 PMID:16496131 CiteXplore:19280426 NCIt:C29536 PMID:15578701 PMID:17273758 DrugBank:DB00313 CAS:99-66-1 PMID:19318486 KEGG DRUG:D00399 PMID:11716839 PMID:16621443 Beilstein:1750447 ChemIDplus:99-66-1 Wikipedia:Valproic_Acid CiteXplore:17156483 KEGG COMPOUND:C07185 Reaxys:1750447 HMDB:HMDB0001877 PMID:24200999 MeSH:D014635 SNOMEDCT:13965000 NIST Chemistry WebBook:99-66-1 LIPID_MAPS_instance:LMFA01020291 KEGG:D00399 CiteXplore:12475192 PMID:23792104 LINCS:LSM-4620" "Quantification of the amount of 2-Methylsuccinic acid in a sample." "PMID:33634981" - "A methyl ketone that consists of propane bearing an oxo group at C2." "Reaxys:635680 PMID:17347819 CAS:67-64-1 LIPID_MAPS_instance:LMFA12000057 Beilstein:635680 KEGG:C00207 MetaCyc:ACETONE HMDB:HMDB0001659 PDBeChem:ACN Wikipedia:Acetone KEGG:D02311 PMID:17190852 Gmelin:1466 UM-BBD_compID:c0556" + "A methyl ketone that consists of propane bearing an oxo group at C2." "Reaxys:635680 PMID:17347819 CAS:67-64-1 LIPID_MAPS_instance:LMFA12000057 KEGG:C00207 MetaCyc:ACETONE HMDB:HMDB0001659 PDBeChem:ACN Wikipedia:Acetone KEGG:D02311 PMID:17190852 Gmelin:1466 UM-BBD_compID:c0556" "OMIMPS:617877" "A rare carcinoma that arises from the cervix. It is characterized by the presence of cystic spaces surrounded by palisaded epithelial cells. The cystic spaces contain eosinophilic hyaline material or mucin. Nuclear pleomorphism, necrotic changes, and a high mitotic rate are also present." "ICD10CM:C53.0 MONDO:0006133 Orphanet:213823 DOID:4867 MEDGEN:232337 GARD:20498 UMLS:C1332911 ONCOTREE:CACC NCIT:C6346 EFO:1000161" @@ -48421,13 +48058,12 @@ "A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present." "OMIM:615537 GARD:17079 UMLS:C0406811 SCTID:239133004 Orphanet:178307 DOID:0060258 MESH:C562924 MEDGEN:98363 ICD9:709.09" "OBSOLETE. A rare combined T and B cell immunodeficiency with a predisposition to lymphoproliferative syndrome. It is characterized by persistent symptomatic EBV-viremia and hypogammaglobulinemia variably presenting with fever, lymphadenopathy and systemic inflammatory conditions including hepatitis, pneumonia and sepsis. It may be associated with lymphoma, hemophagocytic lymphohistiocytosis, and aplastic anemia." "Orphanet:238505 NANDO:2200735" - "A primary alcohol that is ethane in which one of the hydrogens is substituted by a hydroxy group." "PMID:19280886 PMID:15900217 PMID:21600756 PMID:22222864 PMID:21881875 NIFSTD:nlx_chem_20090205 PMID:18456322 PMID:15749123 PMID:14674846 PMID:15019421 KEGG:D06542 PMID:11728426 PMID:19901811 PMID:18095657 Drug_Central:1076 NCIt:C79085 PMID:18411066 PMID:15239123 PMID:16084479 PMID:17663926 PMID:18347649 PMID:15902919 MetaCyc:ETOH PMID:17190852 PMID:11505026 PMID:11810019 DrugBank:DB00898 PMID:16352430 NCIt:C2190 UM-BBD_compID:c0038 CAS:64-17-5 PMID:15285839 PMID:18320157 HMDB:HMDB0000108 PMID:19359288 PPDB:1373 PMID:18922656 PMID:17043811 PMID:18513832 PMID:12829422 PMID:17687877 PMID:22019193 PMID:11200745 PMID:19851413 PMID:16737463 PMID:22331491 PMID:12946583 PMID:11046114 KEGG:C00469 PMID:11090978 PMID:22336593 MeSH:D000431 KNApSAcK:C00019560 Beilstein:1718733 SNOMEDCT:53041004 Wikipedia:Ethanol PMID:22306018 SNOMEDCT:413966000 PMID:22286266 SNOMEDCT:419442005 PMID:18925476 MolBase:859 KEGG:D00068 MolBase:858 PDBeChem:EOH PMID:21967628 PMID:19458312 PMID:18249266 PMID:11262320 PMID:16934862 PMID:15465973 PMID:22261437 PMID:11981228 PMID:16891664 Reaxys:1718733 PMID:11198720 PMID:19384566 PMID:12824058 Gmelin:787 PMID:11826039 PMID:11750186 PMID:11590970 PMID:18408978 PMID:12888778 PMID:11754521 PMID:16390872 SNOMEDCT:421417004 PMID:15464411 PMID:11303910 PMID:21762181 PMID:16133132 PMID:11333032 SNOMEDCT:398624005" + "A primary alcohol that is ethane in which one of the hydrogens is substituted by a hydroxy group." "PMID:19280886 PMID:15900217 PMID:21600756 PMID:22222864 PMID:21881875 NIFSTD:nlx_chem_20090205 PMID:18456322 PMID:15749123 PMID:14674846 PMID:15019421 KEGG:D06542 PMID:11728426 PMID:19901811 PMID:18095657 Drug_Central:1076 NCIt:C79085 PMID:18411066 PMID:15239123 PMID:16084479 PMID:17663926 PMID:18347649 PMID:15902919 MetaCyc:ETOH PMID:17190852 PMID:11505026 PMID:11810019 DrugBank:DB00898 PMID:16352430 NCIt:C2190 UM-BBD_compID:c0038 CAS:64-17-5 PMID:15285839 PMID:18320157 HMDB:HMDB0000108 PMID:19359288 PPDB:1373 PMID:18922656 PMID:17043811 PMID:18513832 PMID:12829422 PMID:17687877 PMID:22019193 PMID:11200745 PMID:19851413 PMID:16737463 PMID:22331491 PMID:12946583 PMID:11046114 KEGG:C00469 PMID:11090978 PMID:22336593 MeSH:D000431 KNApSAcK:C00019560 SNOMEDCT:53041004 Wikipedia:Ethanol PMID:22306018 SNOMEDCT:413966000 PMID:22286266 SNOMEDCT:419442005 PMID:18925476 MolBase:859 KEGG:D00068 MolBase:858 PDBeChem:EOH PMID:21967628 PMID:19458312 PMID:18249266 PMID:11262320 PMID:16934862 PMID:15465973 PMID:22261437 PMID:11981228 PMID:16891664 Reaxys:1718733 PMID:11198720 PMID:19384566 PMID:12824058 Gmelin:787 PMID:11826039 PMID:11750186 PMID:11590970 PMID:18408978 PMID:12888778 PMID:11754521 PMID:16390872 SNOMEDCT:421417004 PMID:15464411 PMID:11303910 PMID:21762181 PMID:16133132 PMID:11333032 SNOMEDCT:398624005" "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene." "UMLS:C2677491 DOID:0110318 MEDGEN:393755 OMIM:612124" "carcinomas of the follicular thyroid epithelium that retain sufficient differentiation to produce scattered small follicular structures and some thyroglobulin, but generally lack the usual morphologic characteristics of papillary and follicular carcinoma" "human mammary carcinoma cell line obtained from the pleural effusion of a postmenopausal breast cancer patient (Sigma catalog number 98050130)" - "A systemic non-inflammatory arteriopathy primarily of middle-aged females characterized by the association of livedo reticularis, multiple thrombotic CEREBRAL INFARCTION; CORONARY DISEASE, and HYPERTENSION. Elevation of antiphospholipid antibody titers (see also ANTIPHOSPHOLIPID SYNDROME), cardiac valvulopathy, ISCHEMIC ATTACK, TRANSIENT; SEIZURES; DEMENTIA; and chronic ischemia of the extremities may also occur. Pathologic examination of affected arteries reveals non-inflammatory adventitial fibrosis, thrombosis, and changes in the media. (From Jablonski, Dictionary of Syndromes & Eponymic Diseases, 2d ed; Adams et al., Principles of Neurology, 6th ed, p861; Arch Neurol 1997 Jan;54(1):53-60)" "GARD:7664 NORD:1726 Orphanet:820 icd11.foundation:1474816492 MedDRA:10053841 UMLS:C0282492 SCTID:238776001 MONDO:0008436 DOID:13096 MEDGEN:76449 OMIM:182410 MESH:D018860 MeSH:D018860" "The amount of a pyridoxal phosphate homeostasis protein PLPBP when measured in blood serum." "UMLS:C5394027 MEDGEN:1717952 OMIM:618741" "NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" @@ -48436,7 +48072,6 @@ "The amount of a transmembrane emp24 domain-containing protein 4 when measured in blood serum." "Quantification of filamin-A in a sample." "PMID:29875488" "Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period." "OMIM:153100 OMIM:247440 OMIM:611944 OMIM:613480 UMLS:C1704423 OMIM:615907 ICD10:Q82.0" - "A toxoplasmosis that occurs in patients with AIDS or weakened immune system, who develop the infection due to reactivation, present with ring-enhancing intracranial mass lesions or encephalitis. The symptoms include headache, altered mental status, seizures, coma, fever, motor or sensory loss, cranial nerve palsies, visual abnormalities, and focal seizures." "MedDRA:10057854 MEDGEN:38846 MONDO:0005697 UMLS:C0085315 SCTID:192701001 MESH:D016781 DOID:10551 MeSH:D016781 ICD9:130.0" "UMLS:C1864761 MEDGEN:355288 OMIMPS:609698" "Quantification of the amount of L-Gulonic acid gamma-lactone in a sample." "PMID:35888748" "The chemical reactions and pathways resulting in the formation of creatine, N-[amino(imino)methyl]-N-methylglycine. Creatine is formed by a process beginning with amidino group transfer from L-arginine to glycine to form guanidinoacetate, followed by methyl group transfer from S-adenosyl-L-methionine to guanidinoacetate; it is then is phosphorylated to form a pool that stores high energy phosphate for the replenishment of ATP during periods of high, or fluctuating energy demand. In animals, most creatine is transported to and used in muscle." @@ -48605,7 +48240,6 @@ "UMLS:C0265535 icd11.foundation:20816218 MEDGEN:82713 SCTID:28740008" "Prominent lobed neuropils found in annelids and all arthropods except crustaceans. They are thought to be involved in olfactory associative learning and memory[MESH] Mushroom body neuropils are divided into calyces, pedunculus, and its subsequent lobes. In Drosophila these are the alpha, beta, and gamma lobes." "GAID:1231 MESH:D024521 MIAA:0000336 MAT:0000336 FBbt:00005801 Wikipedia:Mushroom_body BTO:0002675 EFO:0000925" "UMLS:C0432442 OMIM:146390 ICD10:Q93.5" - "A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Caliciviridae viruses." "DOID:4091 MeSH:D017250 MONDO:0005687 MESH:D017250" "MEDGEN:1798912 Orphanet:488191 GARD:17887 UMLS:C5567489" "Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs." "GARD:1128 MESH:C565076 SCTID:389272007 MEDGEN:377557 Orphanet:2767 icd11.foundation:1406756925 OMIM:127820 UMLS:C1851956" "Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)." "MeSH:D012816 NCIt:C100104 NCIt:C3367 ICD10:R68" @@ -48622,7 +48256,6 @@ "The amount of a Axin interactor, dorsalization-associated protein when measured in blood serum." "Quantification of the amount of 3-N-Methyl-L-histidine in a sample." "PMID:33634981" "Chronic inflammation of the nasal cavity mucosa. It may lead to post-nasal drip resulting in chronic sore throat and chronic cough." "NCIT:C34479 DOID:8252 SCTID:86094006 ICD9:472.0 UMLS:C0008711 icd11.foundation:1346915097 MEDGEN:3086" - "A commensal bacterial infectious disease that results_in inflammation, located_in conjunctiva of the eye, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact. The infection has_symptom swollen conjunctiva and eyelids and has_symptom discharge of pus and mucus." "UMLS:C0009770 DOID:13800 ICD9:077.0 ICD9:077.98 NCIT:C116817 MEDGEN:1095 MONDO:0005808 MeSH:D003235 MedDRA:10021629 MESH:D003235 ICD10CM:A74.0 SCTID:231861005" "Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow." "OMIM:608673 ICD10:G60.0" "A double-positive thymocyte that is CD69-positive and has begun positive selection." @@ -48645,7 +48278,7 @@ "A disease involving the peripheral nervous system." "NCIT:C27580 DOID:574 ICD10:G64 MONDO:0003620 SCTID:42658009 MEDGEN:892389 UMLS:C4025831 ICD9:356.9 ICD9:350-359.99 MESH:D010523" "Human B-lymphoblastoid cell line" "RRID:CVCL_E489" "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the GOSR2 gene." "DOID:0111449 MEDGEN:1681379 UMLS:C5190805 OMIM:614018 icd11.foundation:878291417 Orphanet:280620 GARD:3872" - "A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically." "NCIT:C40155 MONDO:0006197 EFO:1000239 DOID:7139 MEDGEN:309057 icd11.foundation:845680139 UMLS:C1516858" + "A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically." "NCIT:C40155 MONDO:0006197 EFO:1000239 DOID:7139 MEDGEN:309057 UMLS:C1516858 icd11.foundation:845680139" "A non-atherosclerotic, inflammatory thrombotic disease that commonly involves small and medium-sized arteries or veins in the extremities. It is characterized by occlusive THROMBOSIS and FIBROSIS in the vascular wall leading to digital and limb ISCHEMIA and ulcerations. Thromboangiitis obliterans is highly associated with tobacco smoking." "MESH:D013919 MeSH:D013919 NCIT:C35070 NORD:880 ICD10:I73.1 NANDO:1200266 NCIt:C35070 icd11.foundation:1000683110 OMIM:211480 DOID:12918 GARD:5969 MedDRA:10043540 Orphanet:36258 ICD9:443.1 UMLS:C0040021 MONDO:0008889 SCTID:52403007 SNOMEDCT:52403007 MEDGEN:21531" "Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression." "MedDRA:10079207 OMIM:168605" "Human megakaryoblastic cell line" "CLO:0009490" @@ -48658,7 +48291,7 @@ "Abnormal structure or appearance of the nail." "UMLS:C0027339 SNOMEDCT_US:17790008 UMLS:C0853087" "Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure." "Orphanet:156 NANDO:2200509 MESH:C535588 GARD:1120 ICD9:277.85 OMIM:255120 SCTID:238001003 NANDO:1200970 UMLS:C1829703 NCIT:C98871 HGNC:2328 DOID:0090129 MEDGEN:316820 NORD:894" - "An N(6)-acyl-L-lysine where the N(6)-acyl group is specified as acetyl." "Wikipedia:Acetyllysine PDBeChem:ALY PMID:9169194 PMID:6790164 PMID:1285645 KEGG:C02727 MetaCyc:CPD-567 Reaxys:1725438 Beilstein:1725438 Gmelin:747339 CAS:692-04-6 HMDB:HMDB0000206" + "An N(6)-acyl-L-lysine where the N(6)-acyl group is specified as acetyl." "PMID:1285645 PMID:9169194 Reaxys:1725438 PMID:6790164 MetaCyc:CPD-567 CAS:692-04-6 Wikipedia:Acetyllysine Gmelin:747339 KEGG:C02727 PDBeChem:ALY HMDB:HMDB0000206" "OMIM:616271 OMIM:617248 OMIM:617698 ICD10:E71.1" "Human non small cell lung carcinoma cell line" @@ -48692,7 +48325,6 @@ "Orphanet:169163 GARD:20113 MedDRA:10072229 MEDGEN:797875 UMLS:C3267076" "Any van Maldergem syndrome in which the cause of the disease is a mutation in the DCHS1 gene." "UMLS:C4551950 MEDGEN:1644627 OMIM:601390 DOID:0080585" "The amount of a vesicle transport through interaction with t-SNAREs homolog 1A when measured in blood serum." - "An enlarged THYROID GLAND with at least 50% of the gland situated behind the STERNUM. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the TRACHEA leading to deviation, narrowing, and respiratory symptoms." "UMLS:C0018024 SNOMEDCT:66392007 MONDO:0006986 SCTID:66392007 DOID:13200 MeSH:D006045 MESH:D006045 MEDGEN:9066" "A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that, in well differentiated tumors, resemble the epithelial cells of the fallopian tube and, in poorly differentiated tumors, show anaplastic features. Approximately thirty to fifty percent of the tumors are bilateral. Grossly, the better differentiated tumors consist of cystic masses, usually unilocular, containing a clear but sometimes viscous fluid. Papillary formations are often present. The more malignant tumors tend to be solid and invasive, with areas of necrosis and hemorrhage." "NCIT:C8431 UMLS:C0476122 MEDGEN:141653" "An adenoma that arises from the vagina and is characterized by a villous architectural pattern." "DOID:6613 UMLS:C1519936 MEDGEN:275577 NCIT:C40259" "Trisomy 22 is a chromosome disorder in which an extra (third) copy of chromosome 22 is present in every cell of the body where there should normally only be two copies. This condition is commonly found in miscarriages, but only rarely in liveborn infants. Most affected individuals die shortly before or shortly after birth due to severe complications. Common features include an underdeveloped midface (midface hypoplasia)with flat/broad nasal bridge, malformed ears with pits or tags, cleft palate, hypertelorism (wide-spaced eyes), microcephaly and other cranial abnormalities, congenital heart disease, genital abnormalities, and intrauterine growth restriction (IUGR)." "MEDGEN:82711 SCTID:205655003 UMLS:C0265490 MESH:C536799 GARD:5335" @@ -48773,7 +48405,7 @@ "The stage at which leaves at sixteen nodes, other than the cotyledonary node, are visible above ground." "Quantification of the amount of dihydrobiopterin in a sample." "PMID:34565479" - "A dichlorophenol that is phenol carrying chloro substituents at positions 2 and 4." "UM-BBD_compID:c0289 Gmelin:261170 MetaCyc:24-DICHLOROPHENOL HMDB:HMDB0004811 Reaxys:742467 CAS:120-83-2 KEGG:C02625 Beilstein:742467 PMID:10633543 Wikipedia:2,4-Dichlorophenol" + "A dichlorophenol that is phenol carrying chloro substituents at positions 2 and 4." "UM-BBD_compID:c0289 Gmelin:261170 MetaCyc:24-DICHLOROPHENOL HMDB:HMDB0004811 Reaxys:742467 CAS:120-83-2 KEGG:C02625 PMID:10633543 Wikipedia:2,4-Dichlorophenol" "A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate between 101 and 240 beats per minute. The P wave morphology must be distinct from the sinus P wave morphology. (CDISC)" "NANDO:2200218 MedDRA:10003668 SCTID:276796006 UMLS:C0546959 MEDGEN:107485 NCIT:C35481 NCIt:C35481 ICD9:427.89 MONDO:0005479 SNOMEDCT:276796006" "The amount of a heat shock factor 2-binding protein when measured in blood." "PMID:37794183" "The determination of the amount of collagen alpha-1(VIII) chain in a sample" "PMID:28240269" @@ -48785,7 +48417,7 @@ "The amount of a eukaryotic-type beta-galactosidase when measured in blood." "PMID:37794183" "Quantification of the amount of X-24295 in a sample." "PMID:35347128" - "A member of the class of imidazoles that is 1H-imidazole in which the hydrogen attached to a nitrogen is replaced by a monochlorotrityl group." "Beilstein:622318 CAS:23593-75-1 KEGG:C06922 Reaxys:622318 HMDB:HMDB0001922 DrugBank:DB00257 PMID:24892421 SNOMEDCT:387325003 SNOMEDCT:5797005 Drug_Central:719 PMID:18728240 Wikipedia:Clotrimazole LINCS:LSM-5341 MeSH:D003022 NCIt:C381 PDBeChem:CL6 KEGG:D00282" + "A member of the class of imidazoles that is 1H-imidazole in which the hydrogen attached to a nitrogen is replaced by a monochlorotrityl group." "Drug_Central:719 SNOMEDCT:5797005 DrugBank:DB00257 KEGG:C06922 Wikipedia:Clotrimazole PMID:24892421 PDBeChem:CL6 PMID:18728240 MeSH:D003022 NCIt:C381 KEGG:D00282 LINCS:LSM-5341 Reaxys:622318 HMDB:HMDB0001922 CAS:23593-75-1 SNOMEDCT:387325003" "The amount of a outer mitochondrial transmembrane helix translocase when measured in blood serum." "An adipose macrophage that does not express F4/80but is MHC-II-positive. This cell type exhibits autofluorescence under typical flow cyometry conditions." "MEDGEN:289643 GARD:15058 OMIM:125800 DOID:0081061 UMLS:C1563706" @@ -48888,7 +48520,7 @@ "ICD10:Q87.0 OMIM:201020" "An inventory for personality traits devised by Cloninger et al. Traits scored include:\nNovelty Seeking (NS)\nHarm Avoidance (HA)\nReward Dependence (RD)\nPersistence (PS)\nSelf-Directedness (SD)\nCooperativeness (CO)\nSelf-Transcendence (ST)" - "An azaspiro compound that is 8-azaspiro[4.5]decane-7,9-dione substituted at the nitrogen atom by a 4-(piperazin-1-yl)butyl group which in turn is substituted by a pyrimidin-2-yl group at the N(4) position." "PMID:8638511 PMID:26746121 DrugBank:DB00490 HMDB:HMDB0014633 CAS:36505-84-7 Reaxys:964904 KEGG:D07593 KEGG:C06861 Wikipedia:Buspirone PMID:20825390 Beilstein:964904 LINCS:LSM-4105 Drug_Central:437 Patent:US3717634 PMID:15876901 Patent:DE2057845" + "An azaspiro compound that is 8-azaspiro[4.5]decane-7,9-dione substituted at the nitrogen atom by a 4-(piperazin-1-yl)butyl group which in turn is substituted by a pyrimidin-2-yl group at the N(4) position." "PMID:8638511 PMID:26746121 DrugBank:DB00490 HMDB:HMDB0014633 CAS:36505-84-7 Reaxys:964904 KEGG:D07593 KEGG:C06861 Wikipedia:Buspirone PMID:20825390 LINCS:LSM-4105 Drug_Central:437 Patent:US3717634 PMID:15876901 Patent:DE2057845" "The oxime carbamate resulting from the addition of 2-methyl-2-(methylsulfanyl)propanaldoxime to methyl isocyanate. A member of the class of oxime carbamate insecticides, aldicarb is a mixture of E and Z isomers; it is not known which isomer is more active." "PPDB:19 Beilstein:2046931 CAS:116-06-3 KEGG:C11015 SNOMEDCT:65246003 LINCS:LSM-20978 MeSH:D000448 Patent:US3217037 NCIt:C49756" @@ -48910,7 +48542,7 @@ "SNOMEDCT:445559002" "UMLS:C1848453" "The N-acetyl derivative of D-tryptophan." "Beilstein:89477 KEGG:C03137 CAS:2280-01-5" - "A 3-hydroxy steroid that is estradiol substituted by a ethynyl group at position 17. It is a xenoestrogen synthesized from estradiol and has been shown to exhibit high estrogenic potency on oral administration." "Drug_Central:1082 DrugBank:DB00977 LINCS:LSM-5593 VSDB:1887 KEGG:D00554 HMDB:HMDB0001926 Beilstein:2419975 CAS:57-63-6 Reaxys:2419975 PMID:20189629 KEGG:C07534 LIPID_MAPS_instance:LMST02010036" + "A 3-hydroxy steroid that is estradiol substituted by a ethynyl group at position 17. It is a xenoestrogen synthesized from estradiol and has been shown to exhibit high estrogenic potency on oral administration." "Drug_Central:1082 DrugBank:DB00977 LINCS:LSM-5593 VSDB:1887 KEGG:D00554 HMDB:HMDB0001926 CAS:57-63-6 Reaxys:2419975 PMID:20189629 KEGG:C07534 LIPID_MAPS_instance:LMST02010036" "BBS9 is an autosomal recessive disorder characterized by obesity, polydactyly, renal anomalies, retinopathy, and intellectual disability (Abu-Safieh et al., 2012)." "Orphanet:118994 OMIM:615986" "Quantification of derlin-1 in a sample." "PMID:29875488" "Hematopoietic tissue derived from the cephalic mesoderm. Predominantly produces myeloid cells. de Jong and Zon 2005." "ZFA:0005029" @@ -49206,7 +48838,7 @@ "OBSOLETE. An instance of hair anomaly that is caused by a modification of the individual's genome." "Orphanet:183450" "Quantification of the ratio of L-Serine to 3-Indolepropionic acid ratio in a sample." "PMID:33634981" "A form of lysosomal acid lipase deficiency characterized by progressive cholesterol esters and triglyceride accumulation in tissues and organs typically presenting with hepatosplenomegaly, liver dysfunction and/or dyslipidemia." "OMIM:278000 UMLS:C0008384 Orphanet:75234 NORD:929 SCTID:57218003 NANDO:2201233 icd11.foundation:894336362 NANDO:1200144 MEDGEN:40266 GARD:12099 DOID:14502" - "Inflammation of the renal pelvis." "MEDGEN:48268 MedDRA:10037586 NCIT:C34964 MONDO:0006938 SCTID:27174002 UMLS:C0034183 MESH:D011702 DOID:2744 NCIt:C34964 MeSH:D011702 MedDRA:10037584 SNOMEDCT:27174002" + "Inflammation of the renal pelvis." "MEDGEN:48268 MedDRA:10037586 NCIT:C34964 MONDO:0006938 SCTID:27174002 UMLS:C0034183 MESH:D011702 DOID:2744 MeSH:D011702 NCIt:C34964 MedDRA:10037584 SNOMEDCT:27174002" "ICD10:N04.0" "Quantification of the amount of 3-methyl-2-oxobutyrate in a sample." "PMID:24816252" "The amount of a C-type lectin domain family 4 member D when measured in blood serum." @@ -49269,7 +48901,6 @@ "A melanoma that affects the central nervous system. It is characterized by pleomorphism, melanin pigmentation, a high mitotic rate, necrosis, and hemorrhage. It is a highly aggressive and radioresistant tumor. The prognosis is usually poor." "GARD:12016 Orphanet:252050 ONCOTREE:PCNSM NCIT:C5505 UMLS:C0349626 icd11.foundation:539210076 MEDGEN:578849" "Quantification of RNA polymerase II elongation factor ELL2 in a sample." "PMID:29875488" - "A chronic communicable infection which is a principal or polar form of LEPROSY. This disorder is caused by MYCOBACTERIUM LEPRAE and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage." "ICD9:030.0 DOID:10887 MedDRA:10024227 SNOMEDCT:21560005 SCTID:21560005 MeSH:D015440 MEDGEN:7306 ICD10CM:A30.5 icd11.foundation:365370459 UMLS:C0023348 MONDO:0005127 MESH:D015440" "A meningioma that affects the visual pathway." "MEDGEN:234991 NCIT:C5587 UMLS:C1336972" "M059K cells were isolated from a tumor specimen from a 33 year-old male patient with untreated glioblastoma. (ATCC catalog number CRL-2365)" "RRID:CVCL_0401 CLO:0007446" @@ -49299,7 +48930,6 @@ "MEDGEN:1794191 UMLS:C5561981 OMIM:619519" "Quantification of the activity of the enzyme renin in the blood. Renin activates the renin-angiotensin system by cleaving angiotensinogen, produced by the liver, to yield angiotensin I, which is further converted into angiotensin II by ACE, the angiotensin-converting enzyme primarily within the capillaries of the lungs." "Diminished or absent ability of a female to achieve conception. [ MeSH:D007247 ]" "MeSH:D007247 ICD10CM:N97 MONDO:0021124 MESH:D007247 ICD9:628.8 SNOMEDCT:6738008 MP:0001926 SCTID:6738008 icd11.foundation:1237004558 HP:0008222 MEDGEN:5795 ICD9:628.9 UMLS:C0021361 ICD10:N97 MedDRA:10016398" - "A multisystemic disorder characterized by a sensorimotor polyneuropathy (POLYNEUROPATHIES), organomegaly, endocrinopathy, monoclonal gammopathy, and pigmentary skin changes. Other clinical features which may be present include EDEMA; CACHEXIA; microangiopathic glomerulopathy; pulmonary hypertension (HYPERTENSION, PULMONARY); cutaneous necrosis; THROMBOCYTOSIS; and POLYCYTHEMIA. This disorder is frequently associated with osteosclerotic myeloma. (From Adams et al., Principles of Neurology, 6th ed, p1335; Rev Med Interne 1997;18(7):553-62)" "GARD:7411 MEDGEN:39276 NORD:1586 DOID:14039 MESH:D016878 NCIt:C80303 MONDO:0017364 MedDRA:10053869 MeSH:D016878 UMLS:C0085404 SCTID:79268002 NCIT:C80303 Orphanet:2905 NANDO:1200033 SNOMEDCT:79268002 icd11.foundation:1555299114" "Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1)." "Orphanet:263455 SCTID:717048002 GARD:20903 MEDGEN:894506 UMLS:C4274078" "Insufficient production of all the anterior pituitary hormones." "MedDRA:10033662 UMLS:C0242343 MEDGEN:69171 ICD9:253.2 DOID:9410 icd11.foundation:1576287890 NCIT:C110940 SCTID:32390006 Orphanet:90695 GARD:15020" @@ -49310,14 +48940,12 @@ "Myocarditis is a condition that is characterized by inflammation of the heart muscle (myocardium). Some affected people have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. Myocarditis can be caused by a variety of factors including infections (viral, bacterial, parasitic, and fungal), allergic reactions to certain medications, and exposure to certain chemicals. It can also be associated with other inflammatory conditions such as lupus, Wegener's granulomatosis, giant cell arteritis and Takayasu's arteritis. Most cases occur sporadically in people with no family history of the condition. Treatment aims to address the underlying cause of the condition. Medications and rarely, a heart transplant may be needed if the heart muscle becomes weak." "SCTID:50920009 DOID:820 NCIT:C34831 MESH:D009205 NORD:1882 ICD10CM:I40 ICD9:429.0 MedDRA:10028606 UMLS:C0027059 GARD:7137 MedDRA:10028619 icd11.foundation:1018829714 MONDO:0004496 MEDGEN:44553" "ICD10:Q87.8" "A gamma-delta intraepithelial T cell that has the phenotype CD4-negative and CD8-negative." - "Blocked urine flow through the bladder neck, the narrow internal urethral opening at the base of the URINARY BLADDER. Narrowing or strictures of the URETHRA can be congenital or acquired. It is often observed in males with enlarged PROSTATE glands." "ICD10CM:N32.0 UMLS:C0005694 ICD10:N35 MESH:D001748 MONDO:0006679 MEDGEN:14151 icd11.foundation:441939472 MedDRA:10005053 DOID:13948 MeSH:D001748 ICD9:596.0 SCTID:399072004 SNOMEDCT:399072004" "The amount of a sperm protein associated with the nucleus on the X chromosome N3 when measured in blood serum." "Ab X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the NAA10 gene. Patients with variants in the NAA10 gene demonstrate symptoms such as developmental delay, intellectual disability, autism spectrum disorder, hypotonia, facial dysmorphism, cardiac anomalies, and/or skeletal anomalies." "Quantification of the amount of decadienedioic acid (C10:2-DC) in a sample." "PMID:35347128" "ICD10:Q93.1 ICD10:Q93.0" "A benign adipose tissue neoplasm of the tonsils." "UMLS:C1336764 NCIT:C5989 MEDGEN:234431" "Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." "Orphanet:3455 UMLS:C0406586 SCTID:238874008 MESH:C536423 ICD9:259.8 MEDGEN:140806 OMIM:264090 DOID:0081333 NCIT:C121565 NORD:1852 GARD:330" - "usually a benign childhood condition characterized by a classic slapped-cheek appearance (see the image below) and lacy exanthem.It results from infection with human parvovirus (PV) B19, an erythrovirus." "MONDO:0006544 NCIT:C84695 SCTID:34730008 UMLS:C0085273 MedDRA:10015214 MEDGEN:43142 icd11.foundation:352375140 DOID:8743 MESH:D016731 ICD9:057.0" "Acro-pectoro-renal field defect is a very rare association of a Poland anomaly, that is characterized by unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal head) and a variable degree of ipsilateral hand anomalies (including symbrachydactyly, brachydactyly, absent thumb and hypoplastic fingers), combined with a genito-urinary anomaly. Associated genito-urinary anomalies reported include renal hypoplasia or agenesis, duplex collecting system, ureteropelvic junction obstruction, hypospadias and undescended testicles." "SCTID:720413004 Orphanet:956 GARD:511" "MeSH:C535914 ICD10:Q87.5 OMIM:301940 UMLS:C2931060" "Quantification of the amount of linoleate 18:2n6 measurement in a sample." "PMID:24816252" @@ -49358,7 +48986,6 @@ "Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." "MEDGEN:1637716 OMIM:164280 GARD:17624 ICD9:759.89 UMLS:C4551774 Orphanet:391641 SCTID:702431004" "A neurological condition affecting the involuntary movements. It is characterized by brief, non-repetitive irregular muscle contractions. It is seen in patients with Huntington's disease." "NCIT:C84633 GARD:15152 OMIM:118700 SCTID:230298007 MONDO:0001595 MESH:D002819 MeSH:D002819 icd11.foundation:829618737 MEDGEN:3420 ICD9:333.5 SCTID:230306001 HP:0002072 DOID:12859 MedDRA:10008748 SNOMEDCT:271700006 Orphanet:1429 NCIt:C84633 UMLS:C0008489" - "A pathologic process in the larynx that affects the production of speech. Causes include vocal cord paresis, vocal cord nodule, vocal cord polyp, and laryngitis. [database_cross_reference: NCIt:C3441]" "SCTID:71941009 MONDO:0043862 MEDGEN:12120 UMLS:C0042940 NCIT:C3441 ICD10:R49 MESH:D014832" "The amount of a translin-associated protein X when measured in blood." "PMID:37794183" @@ -49391,7 +49018,6 @@ "The amount of a coagulation factor XIII A chain when measured in blood serum." "Quantification of nuclear protein MDM1 in a sample." "PMID:29875488" "The amount of a erlin-1 when measured in blood serum." - "A malignant neoplasm characterized by a vascular proliferation which usually contains blunt endothelial cells. Erythrocyte extravasation and hemosiderin deposition are frequently present. The most frequent site of involvement is the skin; however it may also occur internally. It generally develops in people with compromised immune systems including those with acquired immune deficiency syndrome (AIDS)." "OMIM:148000 BTO:0002071" "human lung adenocarcinoma cell line (Sigma catalog number 84112312)" "An cancer with eccrine differentiation arising from the sweat glands.B" "DOID:4921 UMLS:C1334577 MONDO:0005506 EFO:0005553 NCIT:C5559 MEDGEN:233660" @@ -49624,8 +49250,8 @@ "A disease of the small intestine." "The amount of a NAD-dependent deacetylase sirtuin-5 when measured in blood serum." "The amount of a acyl-coenzyme A thioesterase 13 when measured in blood serum." - "A penicillin in which the substituent at position 6 of the penam ring is a 2-amino-2-(4-hydroxyphenyl)acetamido group." "Drug_Central:192 MeSH:D000658 Wikipedia:Amoxicillin PMID:2083978 HMDB:HMDB0015193 PMID:11906332 Patent:US3192198 KEGG:C06827 SNOMEDCT:27658006 DrugBank:DB01060 KEGG:D07452 PMID:10930630 PMID:11431418 Patent:GB1241844 CAS:26787-78-0 PMID:24759068 PMID:28987997 PMID:24631718 VSDB:1741 SNOMEDCT:372687004 PMID:12833570 PMID:25998949 PMID:29017833 PMID:12569987 PMID:12850488 PMID:16033609 LINCS:LSM-5654 PMID:24595455 Patent:DE1942693 Reaxys:4274654 Beilstein:4274654 Patent:GB978178 PMID:27731424 NCIt:C237" - "A simple monocarboxylic acid containing two carbons." "MeSH:D019342 PMID:16774200 MetaCyc:ACET PDBeChem:ACT NCIt:C61623 PMID:22173419 Gmelin:1380 Wikipedia:Acetic_acid PMID:16630552 PMID:22153255 LIPID_MAPS_instance:LMFA01010002 PMID:19416101 KEGG:C00033 HMDB:HMDB0000042 KNApSAcK:C00001176 PMID:19469536 PMID:15107950 PMID:17190852 Drug_Central:4211 CAS:64-19-7 PMID:12005138 Beilstein:506007 Reaxys:506007 SNOMEDCT:2869004 PDBeChem:ACY KEGG:D00010 PPDB:1333" + "A penicillin in which the substituent at position 6 of the penam ring is a 2-amino-2-(4-hydroxyphenyl)acetamido group." "Drug_Central:192 MeSH:D000658 Wikipedia:Amoxicillin PMID:2083978 HMDB:HMDB0015193 PMID:11906332 Patent:US3192198 KEGG:C06827 SNOMEDCT:27658006 DrugBank:DB01060 KEGG:D07452 PMID:10930630 PMID:11431418 Patent:GB1241844 CAS:26787-78-0 PMID:24759068 PMID:28987997 PMID:24631718 VSDB:1741 SNOMEDCT:372687004 PMID:12833570 PMID:25998949 PMID:29017833 PMID:12569987 PMID:12850488 PMID:16033609 LINCS:LSM-5654 PMID:24595455 Patent:DE1942693 Reaxys:4274654 Patent:GB978178 PMID:27731424 NCIt:C237" + "A simple monocarboxylic acid containing two carbons." "MeSH:D019342 PMID:16774200 MetaCyc:ACET PDBeChem:ACT NCIt:C61623 PMID:22173419 Gmelin:1380 Wikipedia:Acetic_acid PMID:16630552 PMID:22153255 LIPID_MAPS_instance:LMFA01010002 PMID:19416101 KEGG:C00033 HMDB:HMDB0000042 KNApSAcK:C00001176 PMID:19469536 PMID:15107950 PMID:17190852 Drug_Central:4211 CAS:64-19-7 PMID:12005138 Reaxys:506007 SNOMEDCT:2869004 PDBeChem:ACY KEGG:D00010 PPDB:1333" "Quantification of interleukin-17C in a sample." "PMID:29875488" "quantification of some aspect of disease prognosis" "PMID:28067912" @@ -49648,7 +49274,6 @@ "The chemical reactions and pathways involving ATP, adenosine triphosphate, a universally important coenzyme and enzyme regulator." "The amount of a acylphosphatase-2 when measured in blood serum." "Pathogenic germline variation in DICER1 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including pleuropulmonary blastoma, pulmonary cysts, thyroid gland neoplasia, ovarian tumors, and cystic nephroma. Other syndromic features such as macrocephaly have been described." "MEDGEN:825667 GARD:10734 DOID:0081063 UMLS:C3839822 NCIT:C123317 SCTID:702411003 ICD9:199.1 Orphanet:284343" - "A unit which is a standard measure of the energy imparted by ionizing radiation to unit mass of matter such as tissue." "The amount of a DNA polymerase eta when measured in blood serum." "The amount of a thiopurine S-methyltransferase when measured in blood serum." "The amount of a myelin-associated glycoprotein when measured in blood." "PMID:37794183" @@ -49748,7 +49373,7 @@ "MEDGEN:375148 OMIM:620415 UMLS:C1843292" "A loop study design is where labeled extracts are compared in consecutive pairs. synonym: circular design." "MO:912" - "A pentitol (five-carbon sugar alcohol) having meso-configuration, being derived from xylose by reduction of the carbonyl group." "PMID:23597921 PDBeChem:XYL PMID:15377394 PMID:23916161 PMID:23247825 Gmelin:82893 PMID:12061879 PMID:17216457 PMID:23287496 PMID:23957303 PMID:24643482 PMID:23796483 Drug_Central:4604 MetaCyc:XYLITOL KEGG:D00061 KEGG:C00379 HMDB:HMDB0002917 PMID:11154411 Beilstein:1720523 PMID:16708791 DrugBank:DB01904 PMID:17216458 CAS:87-99-0 PMID:24012734 PMID:22735334 PMID:23615861 PMID:17979222 PMID:20030329 PMID:17336832 PMID:23589387 PMID:22791282 Wikipedia:Xylitol Reaxys:1720523 PMID:23338824 PMID:25108762 PMID:18316079 PMID:16901854 PMID:11163479" + "A pentitol (five-carbon sugar alcohol) having meso-configuration, being derived from xylose by reduction of the carbonyl group." "PMID:23597921 PDBeChem:XYL PMID:15377394 PMID:23916161 PMID:23247825 Gmelin:82893 PMID:12061879 PMID:17216457 PMID:23287496 PMID:23957303 PMID:24643482 PMID:23796483 Drug_Central:4604 MetaCyc:XYLITOL KEGG:D00061 KEGG:C00379 HMDB:HMDB0002917 PMID:11154411 PMID:16708791 DrugBank:DB01904 PMID:17216458 CAS:87-99-0 PMID:24012734 PMID:22735334 PMID:23615861 PMID:17979222 PMID:20030329 PMID:17336832 PMID:23589387 PMID:22791282 Wikipedia:Xylitol Reaxys:1720523 PMID:23338824 PMID:25108762 PMID:18316079 PMID:16901854 PMID:11163479" "Lymphoblastoid cell line from a Mende male from Sierra Leone" "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03066&Product=CC" "Any measurable or observable characteristic related to the shape, structure, color, or pattern of the fine, keratinized filamentous growths arising from the epidermis of mammals." "LATE ONSET PARKINSON'S DNA PANEL, AFFECTED INDIVIDUALS PARKINSON'S DISEASE" @@ -49977,7 +49602,6 @@ "Quantification of the change in lateral ventricle volume over time." "PMID:35383335" "DOID:0070347 GARD:17509 Orphanet:330050 MEDGEN:482290 OMIM:614388 UMLS:C3280660" "DOID:0050638 OMIM:105210" - "HL-60 is a cell line which is the bearer of human acute myeloid leukemia established from the peripheral blood of a 35-year-old woman with acute myeloid leukemia (AML FAB M2) in 1976." "BTO:0000738 RRID:CVCL_0002 NCIt:C19433 CLO:0003775" "A progenitor cell that is capable of forming colonies of primitive erythrocytes in the blood island of the yolk sac. First arrive at E7.5 in mouse and expresses CD41." "ICD10:E88.1" "The sudden increase of intraocular pressure, resulting in pain and an abrupt decrease in visual acuity." "MEDGEN:6610 DOID:13550 MESH:D015812 SCTID:392291006 UMLS:C0017605" @@ -50005,11 +49629,9 @@ "Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the SERAC1 gene." "DOID:0110001 GARD:12963 Orphanet:352328 OMIM:614739 UMLS:C4040739 MEDGEN:873604 SCTID:711409002" "The amount of a latent-transforming growth factor beta-binding protein 3 when measured in blood." "PMID:37794183" - "The clear fluid above a sediment or precipitate of a cell culture." "BTO:0002217" "The amount of a guided entry of tail-anchored proteins factor CAMLG when measured in blood." "PMID:37794183" "The amount of a beta-defensin 135 when measured in blood serum." "quantification of the amount of phospholipase A2, membrane associated in a sample" - "Osteoarthritis of the hip is also very common and can affect either one or both hips.\nYou’re most likely to feel pain deep at the front of your groin, but also at the side and front of your thigh, in your buttock or down to your knee (this is called radiated pain).\nIf you have severe hip osteoarthritis, you may find your affected leg seems a little shorter than the other because of the bone on either side of your joint being crunched up.\n" "ICD10:M16 MEDGEN:14530 UMLS:C0029410 MONDO:0006629 MESH:D015207 NCIT:C34876 MeSH:D015207" "Clouston syndrome (or hidrotic ectodermal dysplasia) is characterized by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis." "OMIM:129500 Orphanet:189 MEDGEN:56416 GARD:2056 UMLS:C0162361 SCTID:54209007 DOID:14693" "Amaurosis hypertrichosis is characterized by severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness. Eye examination suggested a cone-rod type of congenital amaurosis. Trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair were also reported. The syndrome has been described in two female cousins both born to consanguineous parents." "UMLS:C1857588 OMIM:204110 ICD10CM:H35.5 SCTID:720983002 Orphanet:1021 GARD:637 MESH:C536604 MEDGEN:341805" "ICD10:Q87.8" @@ -50017,7 +49639,6 @@ "The amount of a dual specificity phosphatase 29 when measured in blood serum." "The amount of a forkhead box protein P3 when measured in blood serum." - "A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome (MeSH)." "SNOMEDCT:87364003 MedDRA:10029260 NANDO:2200040 Orphanet:635 ONCOTREE:NBL NCIT:C3270 ICDO:9500/3 NCIt:C3270 OMIM:613014 MONDO:0005072 OMIM:613013 NIFSTD:birnlex_12631 MESH:D009447 UMLS:C0027819 MeSH:D009447 MEDGEN:18012 OMIM:256700 SCTID:432328008 GARD:7185 DOID:769 SNOMEDCT:432328008" "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures." "OMIM:252900 GARD:7071 UMLS:C0086647 Orphanet:79269 DOID:0111395 NANDO:2201174 SCTID:41572006 MEDGEN:39264 NANDO:1200101 NCIT:C84897 icd11.foundation:182200345" "Portion of tissue that gives rise to the immature gonad." "ZFA:0001262 EMAPA:17204 EFO:0003651 TAO:0001262 EHDAA:5927 WBbt:0008366 RETIRED_EHDAA2:0002148" "Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." "MeSH:C537849 MedDRA:10069760 UMLS:C0266526 OMIM:310600 ICD10:H35.5" @@ -50099,7 +49720,7 @@ "Bur-0 is an Arabidopsis ecotype." "Any familial polycythemia in which the cause of the disease is a mutation in the EPAS1 gene." "OMIM:611783 UMLS:C2673187 DOID:0080339 MESH:C567086 GARD:18356 MEDGEN:435867" "A vesicle found in the cytoplasm of a cell." "NIF_Subcellular:sao180601769" - "A tricarboxylic acid that is propan-1-ol with a hydrogen at each of the 3 carbon positions replaced by a carboxy group." "Reaxys:1727945 PMID:23989918 DrugBank:DB01727 CAS:320-77-4 KEGG:C00311 PMID:24702026 PMID:17439666 MetaCyc:Isocitrate ECMDB:ECMDB04088 Wikipedia:Isocitric_acid HMDB:HMDB0000193 KNApSAcK:C00001188 Beilstein:1727945 YMDB:YMDB00026" + "A tricarboxylic acid that is propan-1-ol with a hydrogen at each of the 3 carbon positions replaced by a carboxy group." "Reaxys:1727945 PMID:23989918 DrugBank:DB01727 CAS:320-77-4 KEGG:C00311 PMID:24702026 PMID:17439666 MetaCyc:Isocitrate ECMDB:ECMDB04088 Wikipedia:Isocitric_acid HMDB:HMDB0000193 KNApSAcK:C00001188 YMDB:YMDB00026" "A rhabdomyosarcoma composed of embryonic and alveolar components. It is characterized by the presence of spindle cells with myoblastic differentiation, a myxoid stroma, and fibrous septa. These tumors were previously considered variants of alveolar rhabdomyosarcoma. The lack of PAX3-FOXO1 fusions in most of these tumors suggests that are biologically and clinically related to embryonal rhabdomyosarcoma." "MEDGEN:313444 UMLS:C1709053 DOID:4065 ICDO:8902/3 NCIT:C4259" "Lymphoblastoid cell line from a Gambian male from the Western Division in the Gambia" "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG02588&Product=CC" @@ -50123,8 +49744,6 @@ "UMLS:C0857812 UMLS:C0221019 MedDRA:10055579 MedDRA:10040655 ICD10:D57.2" "The amount of a large ribosomal subunit protein bL32m when measured in blood serum." "The infection of a fly larva (maggot) in human tissue, which most commonly occurs in tropical climates. Affected tissues most commonly include skin, especially if open wounds are present, nasal passages, ears, and eyes." "UMLS:C0027030 icd11.foundation:1367149207 ICD10:B87 MONDO:0019147 MeSH:D009198 MEDGEN:10148 Orphanet:75110 GARD:18924 SCTID:60412004 MESH:D009198 MedDRA:10028586 ICD9:134.0 DOID:11080 NCIT:C128400" - "An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac." "ICD9:010.12 MeSH:D014396 DOID:106 MESH:D014396 ICD9:010.1 UMLS:C0041326 MEDGEN:22517 ICD10CM:A15.6 MONDO:0005922 ICD9:012.0 ICD9:010.16 ICD9:010.10 NCIT:C26898 ICD9:012.00 SCTID:186172004" - "An acute and painful inflammatory process that affects the pharynx. It is usually caused by viruses and less often bacteria. Signs and symptoms include discomfort on swallowing, low-grade fever, headache, and earache. [database_cross_reference: NCIt:C34355]" "NCIt:C34355 NCIT:C34355 icd11.foundation:1791890273 MONDO:0020600 MedDRA:1000MedDRA:1002 MEDGEN:114 SCTID:363746003 UMLS:C0001344 ICD10:J02" "A Respiratory Process involves the function of components of the respiratory tract involved in breathing, which include the nose, throat, larynx, trachea, bronchi, and lungs." "NCIt:C41477 GO:0003016" @@ -50187,7 +49806,6 @@ "The amount of a dystrobrevin alpha when measured in blood serum." "DOID:0060938 MEDGEN:1794211 OMIM:619565 UMLS:C5562001" - "Paraneoplastic pemphigus is an autoimmune disorder stemming from an underlying tumor." "MONDO:0018974 icd11.foundation:104197957 MedDRA:10057056 DOID:0080852 UMLS:C1112570 ORDO:Orphanet_63455 ICD10CM:L10.81 NANDO:1200231 Orphanet:63455 GARD:18858 MEDGEN:798302 Wikipedia:Paraneoplastic_pemphigus" "quantification of the amount of myeloid cell surface antigen CD33 in a sample" "An extragonadal malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of uniform cells with clear or eosinophilic cytoplasm, round nucleus with one or more nucleoli, and distinct cellular borders. It usually arises from the anterior mediastinum. It may present with respiratory distress, chest pain, or superior vena cava syndrome or it may be asymptomatic, with the tumor detected on routine chest x-ray. The prognosis of mediastinal pure seminomas is favorable compared to the mediastinal non-seminomatous malignant germ cell tumors." "UMLS:C1334680 MEDGEN:277355 NCIT:C6812 DOID:6249" @@ -50273,10 +49891,9 @@ "A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." "ZFA:0009331 NCIt:C33058" "The determination of the amount of C-C motif chemokine 27 in a sample" "PMID:28240269" "Quantification of transmembrane protein 41B in a sample." "PMID:29875488" - "A member of the class of pyrimidines that is pyrimidine carrying an isopropyl group at position 2, a methyl group at position 6 and a (diethoxyphosphorothioyl)oxy group at position 4." "HMDB:HMDB0032943 PPDB:212 MetaCyc:CPD-8965 KEGG:C14324 KEGG:D07856 PMID:18819606 PMID:14536034 VSDB:212 Wikipedia:Diazinon Beilstein:273790 Pesticides:diazinon Reaxys:273790 CAS:333-41-5" + "A member of the class of pyrimidines that is pyrimidine carrying an isopropyl group at position 2, a methyl group at position 6 and a (diethoxyphosphorothioyl)oxy group at position 4." "HMDB:HMDB0032943 PPDB:212 MetaCyc:CPD-8965 KEGG:C14324 KEGG:D07856 PMID:18819606 PMID:14536034 VSDB:212 Wikipedia:Diazinon Pesticides:diazinon Reaxys:273790 CAS:333-41-5" "Any process involved in the maintenance of an internal steady state of triglyceride within an organism or cell." "GO:0070328" "A mature CD8-positive, CD4-negative alpha-beta T cell found in the thymus that is CD24-low and has high expression of the T cell receptor." - "Tumors or cancer of the BRONCHI." "MONDO:0002807 MESH:D001984 DOID:3906 MEDGEN:2735 UMLS:C0006264 HP:0030077 MedDRA:10052245 NANDO:2200081 MeSH:D001984 SCTID:126705004" "OMIM:269860 ICD10:Q77.2" "Separation of the PUBIC SYMPHYSIS. It is an uncommon complication of CHILDBIRTH causing postpartum PAIN, but it can also arise from other causes." "Wikipedia:Diastasis_symphysis_pubis MeSH:D046548" "Catalysis of the reaction: a 2-oxo acid = an aldehyde + CO2." "MetaCyc:PYRUVATE-DECARBOXYLASE-RXN EC:4.1.1.1 RHEA:11628" @@ -50443,7 +50060,7 @@ "SNOMEDCT:414830005" - "a specimen that is output of a process that cell culture inoculated into agar for long term storage." + "a specimen that is output of a process that cell culture inoculated into agar for long term storage."@en "A form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." "MEDGEN:440690 GARD:12766 UMLS:C2749022 DECIPHER:89 Orphanet:217377 SCTID:721881008 OMIM:300801 DOID:0060461 MESH:C567585" "Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HJV gene." "DOID:0111027 MEDGEN:356321 UMLS:C1865614 OMIM:602390" @@ -50488,7 +50105,7 @@ "A (1->4)-beta-D-glucan compound formed by methylating cellulose through exposure to NaOH/CH3Cl." "Beilstein:11200258 Beilstein:8189187 SNOMEDCT:24504000 CAS:9004-67-5 MeSH:D008747 NCIt:C29253 KEGG:D04996 SNOMEDCT:387131008" "UMLS:C1862100 OMIM:113310 MeSH:C537930 ICD10:Q73.8" "A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma. [ NCIT ]" "SCTID:15250008 NCIT:C26731 ICD9:371.30 ICD9:371.9 UMLS:C0010034 MONDO:0000942 ICD9:371.89 DOID:10124 NCIt:C26731 MESH:D003316 MEDGEN:3617" - "A 3',5'-cyclic purine nucleotide that is the 2'-butanoate ester and 6-N-butanoyl derivative of 3',5'-cyclic AMP." "PMID:23335001 CAS:362-74-3 Wikipedia:Bucladesine PMID:29963999 Beilstein:871714 LINCS:LSM-1926 MeSH:D003994 NCIt:C83562 Drug_Central:415 PMID:27022216 PMID:20353690 KEGG:D07546 Reaxys:871714 PMID:15231695" + "A 3',5'-cyclic purine nucleotide that is the 2'-butanoate ester and 6-N-butanoyl derivative of 3',5'-cyclic AMP." "PMID:23335001 CAS:362-74-3 Wikipedia:Bucladesine PMID:29963999 LINCS:LSM-1926 MeSH:D003994 NCIt:C83562 Drug_Central:415 PMID:27022216 PMID:20353690 KEGG:D07546 Reaxys:871714 PMID:15231695" "2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects." "ICD10:Q93.5" "BALB/c is a mouse strain of albion mice." "NIFSTD:birnlex_206" "Quantification of NAD-dependent protein deacylase sirtuin-5, mitochondrial in a sample." "PMID:29875488" @@ -50497,7 +50114,6 @@ "The amount of a pregnancy-specific beta-1-glycoprotein 1 when measured in blood." "PMID:37794183" "A follicular lymphoma involving the skin. A cutaneous follicular lymphoma may be metastatic to the skin from the lymph nodes or other anatomic sites or primary (cutaneous follicle center lymphoma). --2003" "NCIt:C7218 ICD10:C82" - "Familial amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which a family history of the disease exists." "OMIM:105400 OMIM:614373 OMIM:614808 OMIM:205100 OMIM:615426 MedDRA:10077024 OMIM:614696 MEDGEN:1642547 UMLS:C4551993 OMIM:615515 OMIM:612577 OMIMPS:105400 OMIM:612069 MONDO:0005144 OMIM:613954 OMIM:613435 OMIM:300857" "An inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles." "ICD9:282.49 NANDO:2201273 NCIT:C34368 ICD10CM:D56.0 Orphanet:846 GARD:621 DOID:1099 NORD:1902 UMLS:C0002312 icd11.foundation:531667506 MedDRA:10043390 ICD9:282.43 MEDGEN:1434 MESH:D017085 OMIM:604131 SCTID:68913001" "Occlusion of a precerebral artery." "DOID:5976 ICD10:I65 MEDGEN:539069 ICD9:433.9 UMLS:C0265090 ICD9:433.81 ICD9:433 ICD9:433.3 SCTID:28790007 ICD9:433.80 MONDO:0003718" "The amount of a SLAM family member 8 when measured in blood serum." @@ -50572,7 +50188,6 @@ "Subcortical masses of gray matter in the forebrain and midbrain that are richly interconnected and so viewed as a functional system. The nuclei usually included are the caudate nucleus (caudoputamen in rodents), putamen, globus pallidus, substantia nigra (pars compacta and pars reticulata) and the subthalamic nucleus. Some also include the nucleus accumbens and ventral pallidum." "GAID:617 neuronames:2677 UMLS:C0004781 MESH:D001479 MA:0000184 VHOG:0001696 FMA:84013 EMAPA:32673 Wikipedia:Basal_ganglia MBA:623 HBA:4276 BAMS:BG BIRNLEX:826 BM:Tel-BG PBA:4001 NCIT:C12447" "Quantification of the amount of tetradecadienoate (14:2) in a sample." "PMID:35347128" "The amount of a cyclic AMP-dependent transcription factor ATF-5 when measured in blood serum." - "A filariasis that is characterized by the thickening of the skin and underlying tissues, especially in the legs, male genitals and female breasts, caused by thread-like parasitic worms Wuchereria bancrofti, Brugia malayi or Brugia timori, which inhabit the lymphatics. These nematodes are transmitted by mosquitoes. Acute symptoms include fever, lymphadenitis, lymphangitis, funiculitis, and epididymitis. Chronic symptoms include abscesses, hyperkeratosis, polyarthritis, hydroceles, lymphedema, and elephantiasis." "MEDGEN:8583 SCTID:240820001 NORD:1082 MONDO:0005761 NCIT:C128360 SCTID:14100003 icd11.foundation:247221550 MESH:D004605 GARD:3321 DOID:12211 Orphanet:2035 MeSH:D004605 ICD9:374.83 UMLS:C0013884 MedDRA:10016675" "An instance of focal segmental glomerulosclerosis that is caused by an inherited genomic modification in an individual." "NANDO:2200113 NANDO:1200722 OMIMPS:603278" "The amount of a ragulator complex protein LAMTOR2 when measured in blood serum." "a rare group of skin disorders characterized by tender, painful bumps below the surface of the skin (subcutaneous nodules) that usually lead to inflammation of the subcutaneous layer of fat (panniculitis). These nodules tend to be 1-2 centimeters in length and most often affect the legs and feet." "MedDRA:10047883 MONDO:0018063 MEDGEN:10559 SCTID:33760009 DOID:1525 GARD:7879 Orphanet:33577 MESH:D010201 UMLS:C0030328" @@ -50585,7 +50200,7 @@ "The amount of a cholesteryl (5Z,8Z,11Z,14Z,17Z-eicosapentaenoate) when measured in blood." "PMID:37253714" "Quantification of the amount of Uridine 5-monophosphate in a sample." "PMID:33634981" "The turning inward (inversion) of the edge of the eyelid, with the tarsal cartilage turned inward toward the eyeball. (Dorland, 27th ed)" "MEDGEN:41813 SCTID:33168009 ICD9:374.00 UMLS:C0014390 MESH:D004774 HP:0000621 DOID:12397" - "A polymer composed of PEG-ylated sorbitan, where the total number of poly(ethylene glycol) units is 20 (w + x + y + z = 20) and a single terminal is capped by a stearate group." "Beilstein:8476329 Reaxys:10149223 KEGG:D05567 Reaxys:9385260 Reaxys:9319177 Beilstein:10149223 CAS:9005-67-8 Reaxys:15555053" + "A polymer composed of PEG-ylated sorbitan, where the total number of poly(ethylene glycol) units is 20 (w + x + y + z = 20) and a single terminal is capped by a stearate group." "Beilstein:8476329 Reaxys:10149223 KEGG:D05567 Reaxys:9385260 Reaxys:9319177 CAS:9005-67-8 Reaxys:15555053" "Decreased activity of coagulation factor V." "SNOMEDCT_US:4320005 SNOMEDCT_US:88776002 UMLS:C0015499" "Quantification of the campesterol levels in a sample. Campesterol is a phytosterol (molecular formula C28H48O) whose chemical structure is similar to that of cholesterol." "PMID:11432711" "Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest." "UMLS:C4023171" @@ -50654,7 +50269,7 @@ "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus with tofacitinib." "PMID:33455090" "The amount of a leukocyte immunoglobulin-like receptor subfamily A member 3 when measured in blood serum." - "The simplest (and the only achiral) proteinogenic amino acid, with a hydrogen atom as its side chain." "ECMDB:ECMDB00123 PMID:19544666 PMID:22044190 HMDB:HMDB0000123 PMID:12754315 PMID:16901953 CAS:56-40-6 PMID:18440992 KEGG:D00011 PMID:15331688 Beilstein:635782 MetaCyc:GLY PMID:17582620 PMID:15388434 KNApSAcK:C00001361 DrugBank:DB00145 PMID:22079563 PMID:22264337 PMID:15710237 PMID:19449910 PMID:22434786 PMID:22293292 PMID:22234938 PMID:16214212 PMID:18840508 PMID:16986325 PMID:11174716 PMID:19120667 PMID:12631515 Reaxys:635782 PMID:11542461 PMID:16918424 Wikipedia:Glycine PMID:16444815 Gmelin:1808 PMID:16664855 PMID:19526731 PMID:12770151 PMID:16105183 PMID:19916621 KEGG:C00037 PMID:10930630 PMID:16151895 PMID:17383967 PMID:18593588 PMID:22401276 PMID:16417482 YMDB:YMDB00016 PMID:11806864 PMID:18079355 PMID:17970719 PMID:19738917 PMID:18396796 PMID:17154252 PMID:19028609 PMID:21751272 PMID:19924257 PDBeChem:GLY PMID:16998855 PMID:11019925 Drug_Central:1319 PMID:18816054 PMID:12921899" + "The simplest (and the only achiral) proteinogenic amino acid, with a hydrogen atom as its side chain." "ECMDB:ECMDB00123 PMID:19544666 PMID:22044190 HMDB:HMDB0000123 PMID:12754315 PMID:16901953 CAS:56-40-6 PMID:18440992 KEGG:D00011 PMID:15331688 MetaCyc:GLY PMID:17582620 PMID:15388434 KNApSAcK:C00001361 DrugBank:DB00145 PMID:22079563 PMID:22264337 PMID:15710237 PMID:19449910 PMID:22434786 PMID:22293292 PMID:22234938 PMID:16214212 PMID:18840508 PMID:16986325 PMID:11174716 PMID:19120667 PMID:12631515 Reaxys:635782 PMID:11542461 PMID:16918424 Wikipedia:Glycine PMID:16444815 Gmelin:1808 PMID:16664855 PMID:19526731 PMID:12770151 PMID:16105183 PMID:19916621 KEGG:C00037 PMID:10930630 PMID:16151895 PMID:17383967 PMID:18593588 PMID:22401276 PMID:16417482 YMDB:YMDB00016 PMID:11806864 PMID:18079355 PMID:17970719 PMID:19738917 PMID:18396796 PMID:17154252 PMID:19028609 PMID:21751272 PMID:19924257 PDBeChem:GLY PMID:16998855 PMID:11019925 Drug_Central:1319 PMID:18816054 PMID:12921899" "Lymphoblastoid cell line from a Mende male from Sierra Leone" "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03565&Product=CC" "A gene list is a report of the names or identifiers of genes that are the outcome of an analysis or have been put together for the purpose of an analysis." @@ -50681,7 +50296,6 @@ "An anal squamous cell carcinoma characterized by the presence of malignant cells with hyperchromatic nuclei and peripheral nuclear palisading." "NCIT:C8256 MEDGEN:79125 UMLS:C0280470 DOID:7174" "Quantification of sentrin-specific protease 7 in a sample." "PMID:29875488" "OMIM:613561 UMLS:C1838103 ICD10:G71.3 OMIM:500011 OMIM:600462 MeSH:C536101" - "A condition caused by one or more episodes of DEEP VEIN THROMBOSIS, usually the blood clots are lodged in the legs. Clinical features include EDEMA; PAIN; aching; heaviness; and MUSCLE CRAMP in the leg. When severe leg swelling leads to skin breakdown, it is called venous STASIS ULCER." "ICD9:459.10 MEDGEN:46043 DOID:2364 UMLS:C0032807 SCTID:20427003 ICD9:459.13 MESH:D011186 ICD10CM:I87.0 MeSH:D054070 MONDO:0005928 ICD9:459.11 ICD9:459.1 ICD9:459.12" "An immature myeloid leukocyte of heterogeneous phenotype found particularly in cancer and sepsis patients that is capable of suppressing activity of T cells in ex vivo assays. This cell type is CD45-positive, CD11b-positive." "A secondary amino compound that is (S)-colchicine in which the N-acetyl group is replaced by an N-methyl group. Isolable from the autumn crocus, Colchicum autumnale, it is less toxic than colchicine and is used as an antineoplastic." "PMID:2977921 Reaxys:2822892 PMID:1061646 KEGG COMPOUND:C11250 PMID:20082301 ChEMBL:238150 CiteXplore:2977921 CiteXplore:7237451 CiteXplore:2329167 Patent:DE936268 PMID:2329167 CiteXplore:7720099 MeSH:D003703 KEGG COMPOUND:477-30-5 LINCS:LSM-6590 KNApSAcK:C00027138 ChemIDplus:477-30-5 CiteXplore:22394737 Drug_Central:4375 PMID:7720099 NCIt:C419 PMID:22394737 Wikipedia:Demecolcine PMID:7237451 KEGG:C11250 PMID:7887202 CiteXplore:7887202 CAS:477-30-5 CiteXplore:20082301 CiteXplore:1061646" @@ -50765,7 +50379,7 @@ "The amount of a adenosine deaminase 2 when measured in blood." "PMID:37794183" "The amount of a serine protease 57 when measured in blood." "PMID:37794183" - "A sphingoid 1-phosphate that is the monophosphorylated derivative of sphinganine." "LIPID_MAPS_instance:LMSP01050002 PMID:8192648 PMID:30557628 PMID:9353337 FooDB:FDB022594 Beilstein:6780476 KNApSAcK:C00007541 PMID:16278291 PMID:32278008 PMID:17060094 CAS:19794-97-9 PMID:18482992 PMID:33535437 Reaxys:6780476 PMID:27585475 HMDB:HMDB0001383 PMID:22016110 PMID:16529909 PMID:19119142 PMID:7897327 PMID:23373542 PMID:20309867 PMID:2754341 KEGG:C01120" + "A sphingoid 1-phosphate that is the monophosphorylated derivative of sphinganine." "LIPID_MAPS_instance:LMSP01050002 PMID:8192648 PMID:30557628 PMID:9353337 FooDB:FDB022594 KNApSAcK:C00007541 PMID:16278291 PMID:32278008 PMID:17060094 CAS:19794-97-9 PMID:18482992 PMID:33535437 Reaxys:6780476 PMID:27585475 HMDB:HMDB0001383 PMID:22016110 PMID:16529909 PMID:19119142 PMID:7897327 PMID:23373542 PMID:20309867 PMID:2754341 KEGG:C01120" "Quantification of MANSC domain-containing protein 4 in a sample." "PMID:29875488" "A N-acylglycinate that is the conjugate base of glycoursodeoxycholic acid. obtained by deprotonation of the carboxy group; major species at pH 7.3." "Reaxys:4301713 PMID:16332456" "A state of excessive motor activity that is associated with mental distress or a feeling of substantial unease or inner tension. Distinguished from restlessness by the increased level of emotional distress and negative intensity of the experience. Agitation has a significant level of physical activity that is typically threatening to the self or others." "UMLS:C0085631 SNOMEDCT_US:24199005" @@ -50832,7 +50446,6 @@ "Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis." "SNOMEDCT_US:233703007 UMLS:C0206062" "Ws-1 is an Arabidopsis ecotype." "ICD10:E25.0" - "A syndrome characterized by acute brain damage and liver function problems. It has been associated with aspirin consumption by children with viral illness, although it also occurs in the absence of aspirin use." "SCTID:74351001 MedDRA:10039012 Orphanet:3096 ICD9:331.81 DOID:14525 icd11.foundation:649014905 GARD:7570 UMLS:C0035400 MeSH:D012202 MONDO:0005942 MESH:D012202 MEDGEN:19772 NCIT:C34983" "The anion of (R)-2-hydroxy-4-methylpentanoic acid." "Beilstein:5245806" "A non-neoplastic, hamartomatous polyp that arises from the colon and rectum. This group includes the juvenile polyp, Peutz-Jeghers polyp, and Cowden-associated polyp." "NCIt:C96474 MEDGEN:474434 NCIT:C96474 UMLS:C3272801 MONDO:0006160" "Kyphoscoliotic EDS (kEDS) is rare. People with kEDS may have: curvature of the spine – this starts in early childhood and often gets worse in the teenage years, joint hypermobility, loose, unstable joints that dislocate easily, weak muscle tone from childhood (hypotonia) – this may cause a delay in sitting and walking, or difficulty walking if symptoms get worse, fragile eyes that can easily be damaged, and soft, velvety skin that is stretchy, bruises easily and scars." "Orphanet:536545" @@ -50859,7 +50472,6 @@ "DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" "quantification of the amount of nidogen-1 in a sample" "Orphanet:308621 UMLS:C5679972 NANDO:2201159 MEDGEN:1826169 GARD:17394" - "Inverted follicular keratosis of the vulvar skin" "NCIT:C40291 DOID:6943 MEDGEN:274414 UMLS:C1520084 MONDO:0006621" "A malignant neoplasm involving the parametrium." "DOID:11746 UMLS:C0153581 SCTID:448674007 MEDGEN:509332 ICD9:183.4" "Quantification of arsenic in a blood sample." "PMID:35501403" @@ -50936,6 +50548,7 @@ "A(n) primordium that develops into some embryonic/larval cibarium. It develops from some gnathal primordium." "FBbt:00017019" "measurement of the IgG antibody isotype produced by plasma cells in response to a Heliobacter pylori infection" "Skeletal system that is part of the head, including the splanchnocranium, chondrocranium, and dermatocranium." "ZFA:0000737 MAT:0000340 TGMA:0000003 BTO:0001295 EHDAA:6029 MA:0000316 FMA:87596 EMAPA:17680 TAO:0000737" + "Catalysis of the hydrolysis of alpha-L-iduronosidic linkages in dermatan sulfate. Can also hydrolyze alpha-L-iduronosidic linkages in heparan sulfate." "Reactome:R-HSA-9036037 MetaCyc:3.2.1.76-RXN Reactome:R-HSA-1678716 Reactome:R-HSA-9036041 Reactome:R-HSA-1793186 Reactome:R-HSA-2090037 EC:3.2.1.76 Reactome:R-HSA-2206299" "Any process that stops, prevents or reduces the frequency, rate or extent of saliva secretion." "A DHET obtained by formal dihydroxylation across the 11,12-double bond of arachidonic acid." "Reaxys:9871006 KEGG:C14774 CAS:192461-95-3 HMDB:HMDB0002314 LIPID_MAPS_instance:LMFA03050008" @@ -51017,7 +50630,7 @@ "Abscess of the PSOAS MUSCLES resulting usually from disease of the lumbar vertebrae, with the pus descending into the muscle sheath. The infection is most commonly tuberculous or staphylococcal." "ICD10:K68.12 MeSH:D016659 MedDRA:10056517 ICD9:567.31 SNOMEDCT:266463007" "A secretory cell that is grouped together with other cells of the same type to form grape shaped clusters known as acini (singular acinus)." "ZFA:0009277 NCIt:C13077 MESH:D061354 FMA:83625 https://cellxgene.cziscience.com/cellguide/CL_0000622" - "Tetracycline in which the 5beta-hydrogen is replaced by a hydroxy group, while the 6alpha-hydroxy group is replaced by hydrogen. A semi-synthetic tetracycline antibiotic, it is used to inhibit bacterial protein synthesis and treat non-gonococcal urethritis and cervicitis, exacerbations of bronchitis in patients with chronic obstructive pulmonary disease (COPD), and adult periodontitis." "PMID:11477376 MetaCyc:CPD-19256 Drug_Central:961 SNOMEDCT:10504007 VSDB:1840 PMID:34338231 Beilstein:3041790 PMID:34228348 KEGG:D07876 PMID:11891205 PMID:23698443 MeSH:D004318 PMID:16651635 PMID:34318509 NCIt:C457 LIPID_MAPS_instance:LMPK07000001 PMCID:PMC8464303 Reaxys:3041790 PMID:11850258 PDBeChem:DXT PMID:24134630 SNOMEDCT:372478003 Chemspider:10469369 CAS:564-25-0 PMID:34355683 PMID:34551605 Patent:US3200149 PMID:19630297 KNApSAcK:C00017127 PMID:34577552 KEGG:C06973 PMID:34128838 PMID:1650428 HMDB:HMDB0014399 Wikipedia:Doxycycline DrugBank:DB00254 PMCID:PMC8466018 Patent:US3019260" + "Tetracycline in which the 5beta-hydrogen is replaced by a hydroxy group, while the 6alpha-hydroxy group is replaced by hydrogen. A semi-synthetic tetracycline antibiotic, it is used to inhibit bacterial protein synthesis and treat non-gonococcal urethritis and cervicitis, exacerbations of bronchitis in patients with chronic obstructive pulmonary disease (COPD), and adult periodontitis." "PMID:11477376 MetaCyc:CPD-19256 Drug_Central:961 SNOMEDCT:10504007 VSDB:1840 PMID:34338231 PMID:34228348 KEGG:D07876 PMID:11891205 PMID:23698443 MeSH:D004318 PMID:16651635 PMID:34318509 NCIt:C457 LIPID_MAPS_instance:LMPK07000001 PMCID:PMC8464303 Reaxys:3041790 PMID:11850258 PDBeChem:DXT PMID:24134630 SNOMEDCT:372478003 Chemspider:10469369 CAS:564-25-0 PMID:34355683 PMID:34551605 Patent:US3200149 PMID:19630297 KNApSAcK:C00017127 PMID:34577552 KEGG:C06973 PMID:34128838 PMID:1650428 HMDB:HMDB0014399 Wikipedia:Doxycycline DrugBank:DB00254 PMCID:PMC8466018 Patent:US3019260" "The quantification of lysophosphatidylcholine 18:0 levels in a sample." "PMID:23823483" "C57BL/6 is a mouse strain as described in Jackson Laboratory http://www.informatics.jax.org/external/festing/mouse/docs/C57BL.shtml" "NIFSTD:birnlex_398" "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the rectum." "NCIT:C135213" @@ -51075,7 +50688,7 @@ "GARD:17396 MEDGEN:383883 NANDO:2201161 Orphanet:308655 UMLS:C1856303" "17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features." "OMIM:613215 ICD10:Q92.3" "The amount of a small ubiquitin-related modifier 4 when measured in blood serum." - "The results of a differential expression analysis." + "The results of a differential expression analysis."@en "Derived from a subcutaneous nodule of a tumour from a 14-year-old male. Cells display remarkable blebbing. (Sigma-Aldrich catalog number 93051123)" "Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." @@ -51155,7 +50768,7 @@ "Col-2 is an Arabidopsis ecotype and is a line that has been single seed selected from Col-1 and propagated through 5 generations of single seed descent by Shauna Somerville." "The amount of a semaphorin-3C when measured in blood serum." - "A tetradecenoate that is the conjugate base of myristoleic acid." "Reaxys:6391251 Beilstein:6391251" + "A tetradecenoate that is the conjugate base of myristoleic acid." "Reaxys:6391251" "OMIM:601042 ICD10:G24.8" "The amount of a succinate dehydrogenase assembly factor 1, mitochondrial when measured in blood serum." "NCIt:C86397 MeSH:D005604 SNOMEDCT:51526001" @@ -51165,6 +50778,7 @@ "The amount of a nucleophosmin when measured in blood serum." "A diffuse large B-cell lymphoma occurring in the spleen." "EFO:1000547 MEDGEN:412154 MONDO:0006428 NCIT:C7308 UMLS:C2018774" + "A vortexer is an instrument that mixes small vials of liquid by creating a rotation of the liquid around its own center. It consists of an electric motor with the drive shaft oriented vertically and attached to a cupped rubber piece mounted slightly off-center. As the motor runs the rubber piece oscillates rapidly in a circular motion. When a test tube or other appropriate container is pressed into the rubber cup (or touched to its edge) the motion is transmitted to the liquid inside and a vortex is created."@en "MO:983" "A vortexer is an instrument that mixes small vials of liquid by creating a rotation of the liquid around its own center. It consists of an electric motor with the drive shaft oriented vertically and attached to a cupped rubber piece mounted slightly off-center. As the motor runs the rubber piece oscillates rapidly in a circular motion. When a test tube or other appropriate container is pressed into the rubber cup (or touched to its edge) the motion is transmitted to the liquid inside and a vortex is created." "MO:983" "quantification of the amount of death-associated protein kinase 2 in a sample" "The amount of a sulfotransferase 2B1 when measured in blood serum." @@ -51236,7 +50850,7 @@ "Quantification of the ratio of 3-Indolepropionic acid to gamma-Linolenic acid (C18:3n6) ratio in a sample." "PMID:33634981" - "SNOMEDCT:312898002 Orphanet:178493 MedDRA:10082754 MONDO:0015807 MEDGEN:676480 UMLS:C0730271 ICD10CM:H35.3 ORDO:178493 GARD:20153 SCTID:312898002" + "Orphanet:178493 SNOMEDCT:312898002 MedDRA:10082754 MONDO:0015807 MEDGEN:676480 UMLS:C0730271 ICD10CM:H35.3 ORDO:178493 GARD:20153 SCTID:312898002" "Collection of a breast milk specimen from an organism." "quantification of the amount of transmembrane glycoprotein NMB in a sample" "The amount of a cell cycle and apoptosis regulator protein 2 when measured in blood." "PMID:37794183" @@ -51245,7 +50859,7 @@ "The smaller and more medial part of the lentiform nucleus of the brain, separated from the putamen by the lateral medullary lamina. In official anatomic nomenclature, it is divided by the medial medullary lamina into two parts, lateral and medial, both of which have extensive connections with the corpus striatum, thalamus, and mesencephalon.nThe paleostriatum is the phylogenetically older part of the corpus striatum represented by the globus pallidus." "MAT:0000510 MA:0000890 EV:0100188 NIFSTD:birnlex_1234 FMA:61835 BTO:0002246" - "A C21-steroid that is pregn-4-ene substituted by hydroxy groups at positions 17 and 21 and oxo group at positions 3, 11 and 20." "PMID:11710540 CAS:53-06-5 Beilstein:1356062 PMID:8989250 PMID:2268561 PMID:24391193 HMDB:HMDB0002802 MetaCyc:CORTISONE KEGG:C00762 LIPID_MAPS_instance:LMST02030090 KEGG:D07749 PMID:14874924 Reaxys:1356062 Wikipedia:Cortisone" + "A C21-steroid that is pregn-4-ene substituted by hydroxy groups at positions 17 and 21 and oxo group at positions 3, 11 and 20." "PMID:11710540 CAS:53-06-5 PMID:8989250 PMID:2268561 PMID:24391193 HMDB:HMDB0002802 MetaCyc:CORTISONE KEGG:C00762 LIPID_MAPS_instance:LMST02030090 KEGG:D07749 PMID:14874924 Reaxys:1356062 Wikipedia:Cortisone" "A traumatic or pathologic injury to the femur in which the continuity of the fibula is broken. [ NCI ]" "NCIt:C26938 MedDRA:10016667" "The methyl ester of tribenuron." "KEGG COMPOUND:101200-48-0 KEGG:C10962 Pesticides:tribenuron KEGG COMPOUND:C10962 PPDB:655 CiteXplore:20048324 CiteXplore:21983197 ChemIDplus:101200-48-0 PMID:21637929 PDBeChem:1TB CiteXplore:21277578 PMID:22217454 PMID:21277578 CiteXplore:22217454 PMID:20048324 CiteXplore:21637929 ChEMBL:792130 PMID:21983197 CAS:101200-48-0 Reaxys:7447730" "Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography." "UMLS:C4280728" @@ -51260,7 +50874,7 @@ "Quantification of kin of IRRE-like protein 2 in a sample." "PMID:29875488" "The amount of a epsin-1 when measured in blood." "PMID:37794183" "Quantification of the amount of isoeugenol sulfate in a sample." "PMID:35347128" - "a specimen that is output of a specimen creation process used for an investigation without storage." "NCIt:C84517" + "a specimen that is output of a specimen creation process used for an investigation without storage."@en "NCIt:C84517" "Quantification of stromal interaction molecule 1 in a sample." "PMID:29875488" "UMLS:C1264040 OMIM:613554 MeSH:D056728 ICD10:D68.0" "NANDO:2200198 NANDO:2100032 NANDO:1200753" @@ -51302,7 +50916,7 @@ "Contiguous region of early embryonic cells of the ectoderm anlage that forms a single-cell border between the anlagen of the mesoderm and ventral ectoderm (Campos-Ortega and Hartenstein, 1997; Stathopoulos and Newcomb, 2020). As the mesoderm invaginates and the ventral furrow closes, the two rows of cells come together to form the mesectoderm at the ventral midline of the embryo (Campos-Ortega and Hartenstein, 1997)." "FBbt:00000109" "OMIM:612847 ICD10:Q77.7" "One of the constitution types used in Korean Eight Constitution Medicine. It is strong liver function but weaker lung function." - "A carbonyl group with two C-bound amine groups. The commercially available fertilizer has an analysis of 46-0-0 (N-P2O5-K2O)." "KEGG:C00086 Gmelin:1378 PDBeChem:URE Wikipedia:Urea YMDB:YMDB00003 KNApSAcK:C00007314 UM-BBD_compID:c0165 HMDB:HMDB0000294 KEGG:D00023 ECMDB:ECMDB04172 MetaCyc:UREA Reaxys:635724 PMID:18037357 PPDB:1728 CAS:57-13-6 DrugBank:DB03904 Drug_Central:4264 PMID:22770225 Beilstein:635724" + "A carbonyl group with two C-bound amine groups. The commercially available fertilizer has an analysis of 46-0-0 (N-P2O5-K2O)." "KEGG:C00086 Gmelin:1378 PDBeChem:URE Wikipedia:Urea YMDB:YMDB00003 KNApSAcK:C00007314 UM-BBD_compID:c0165 HMDB:HMDB0000294 KEGG:D00023 ECMDB:ECMDB04172 MetaCyc:UREA Reaxys:635724 PMID:18037357 PPDB:1728 CAS:57-13-6 DrugBank:DB03904 Drug_Central:4264 PMID:22770225" "Conditions with excess LIPIDS in the blood." "MeSH:D006949 NCIt:C34707 OMIM:602491 MedDRA:10020667 SNOMEDCT:55822004" "A single cell ATAC-seq method for multiplex profiling of chromatin accessibility by combinatorial cellular indexing. Single nuclei are identified by the unique combination of n5 barcodes and indices rather than by isolation." "PMID:25953818" @@ -51390,7 +51004,7 @@ "An inflammation of the mucous membrane lining the nose, usually associated with nasal discharge." "ICD10:J31 MEDGEN:19782 DOID:4483 NCIT:C34986 ICD10CM:J30 MedDRA:10039083 MESH:D012220 UMLS:C0035455 MeSH:D012220 SNOMEDCT:70076002 NCIt:C34986 SCTID:70076002 MONDO:0003014" - "An organic sulfide that is the S-adenosyl derivative of L-homocysteine." "PMID:11700066 PDBeChem:SAH PMID:11997462 PMID:15026045 PMID:17439666 KNApSAcK:C00007230 KEGG:C00021 PMID:18976670 PMID:17172447 DrugBank:DB01752 PMID:16197293 PMID:19357721 PMID:15645450 Wikipedia:S-Adenosyl-L-homocysteine PMID:17726531 PMID:16197315 PMID:21837278 HMDB:HMDB0000939 PMID:16253211 PMID:12767735 PMID:17300772 Gmelin:692100 PMID:24145794 PMID:17044778 PMID:19249293 Beilstein:99188 PMID:15542683 PMID:16109423 CAS:979-92-0 PMID:22455498 PMID:22225784 PMID:11961214 PMID:16519522 Reaxys:99188 PMID:11746687 PMID:16423634 PMID:15057524 MetaCyc:ADENOSYL-HOMO-CYS" + "An organic sulfide that is the S-adenosyl derivative of L-homocysteine." "PMID:11700066 PDBeChem:SAH PMID:11997462 PMID:15026045 PMID:17439666 KNApSAcK:C00007230 KEGG:C00021 PMID:18976670 PMID:17172447 DrugBank:DB01752 PMID:16197293 PMID:19357721 PMID:15645450 Wikipedia:S-Adenosyl-L-homocysteine PMID:17726531 PMID:16197315 PMID:21837278 HMDB:HMDB0000939 PMID:16253211 PMID:12767735 PMID:17300772 Gmelin:692100 PMID:24145794 PMID:17044778 PMID:19249293 PMID:15542683 PMID:16109423 CAS:979-92-0 PMID:22455498 PMID:22225784 PMID:11961214 PMID:16519522 Reaxys:99188 PMID:11746687 PMID:16423634 PMID:15057524 MetaCyc:ADENOSYL-HOMO-CYS" "Increased volume and globular shape of the anteroinferior aspect of the nose." "UMLS:C1834118 UMLS:C1855751 UMLS:C0240543" "An L-alpha-amino acid that is the L-isomer of arginine." "PMID:22439203 MetaCyc:ARG CAS:74-79-3 PMID:12812828 PMID:16416365 PMID:8070089 PMID:22428068 Reaxys:1725413 PMID:22251130 PMID:15016745 Gmelin:83283 HMDB:HMDB0000517 PMID:22619480 DrugBank:DB00125 KEGG:C00062 PMID:22667467 PMID:22425811 KEGG:D02982 PMID:17168727 PMID:11898853 PMID:22179117 ChemIDplus:74-79-3 PMID:22361732 PMID:11139824 Drug_Central:1549 PMID:22626826 Wikipedia:L-arginine PMID:22652429 PMID:22553931 KNApSAcK:C00001340 KEGG COMPOUND:C00062 Beilstein:1725413 PMID:15465805 PMID:19030957 PMID:17439666 PDBeChem:ARG PMID:22243793 ECMDB:ECMDB00517 PMID:11300497 PMID:21600268 PMID:22709481 PMID:21814794 PDBeChem:GND PMID:10848923 PMID:16056256 YMDB:YMDB00592" "Any isolated trigonocephaly in which the cause of the disease is a mutation in the FREM1 gene." "GARD:18559 OMIM:614485 UMLS:C3280974 MEDGEN:482604" @@ -51410,7 +51024,7 @@ "A milliliter per liter is a unit of concentrationdefined as a volume per unit volume unit which is equal to one millionth of a liter of solute in one liter of solution." "A type I NK T cell that has been recently activated, secretes interferon-gamma and interleukin-4, and has phenotype CD4-negative, CD8-negative, CD69-positive, and downregulated NK markers." "A naphthalenecarboxamide resulting from the formal condensation of the carboxylic acid group of 4-cyano-1-methoxynaphthalene-2-carboxylic acid with the primary amino group of 1-(1-butylpyrrolidin-2-yl]methanamine. It is a highly potent, competitive, preferential dopamine D3 receptor antagonist, centrally active upon systemic administration." "MeSH:C097285 PMID:9252981 Reaxys:8356954 CiteXplore:9252981 ChemIDplus:149649-22-9 CiteXplore:8531087 Wikipedia:Nafadotride PMID:8531087 LINCS:LSM-1755 CAS:149649-22-9 ChEMBL:134432" - "A norterpene that is an acyclic saturated hydrocarbon derived from phytane by loss of its C-16 terminal methyl group." "MetaCyc:CPD-15252 PMID:22917079 PMID:22391806 PMID:9574571 PMID:22933628 PMID:22422888 PMID:22702720 PMID:23249408 Reaxys:1720538 Beilstein:1720538 PMID:23342358 PMID:22678902 CAS:1921-70-6 PMID:21725847 Wikipedia:Pristane PMID:23450347 PMID:22160928 PMID:22076633" + "A norterpene that is an acyclic saturated hydrocarbon derived from phytane by loss of its C-16 terminal methyl group." "MetaCyc:CPD-15252 PMID:22917079 PMID:22391806 PMID:9574571 PMID:22933628 PMID:22422888 PMID:22702720 PMID:23249408 Reaxys:1720538 PMID:23342358 PMID:22678902 CAS:1921-70-6 PMID:21725847 Wikipedia:Pristane PMID:23450347 PMID:22160928 PMID:22076633" "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus with the chemotherapy drug bevacizumab." "Quantification of the volume of the choroid plexus." "PMID:31530798" "DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" @@ -51427,7 +51041,6 @@ "A brain ventricle that is part of a telencephalon. In mammals and species with an evaginated telencephalon, this is one of a pair of lateral structures, one in each hemisphere." "GAID:611 VHOG:0000643 HBA:9419 BIRNLEX:1263 SCTID:180930008 EHDAA:3502 DHBA:10596 Wikipedia:Lateral_ventricle CALOHA:TS-1230 BTO:0000879 EFO:0001961 BAMS:LV FMA:78448 NCIT:C12834 EHDAA2:0001984 ZFA:0000696 BM:Tel-LV BAMS:Tel-V MBA:81 UMLS:C0152279 DMBA:126651562 EHDAA:6576 EV:0100307 MA:0000192 TAO:0000696 MESH:D020547 neuronames:209" "The amount of a receptor-type tyrosine-protein phosphatase H when measured in blood serum." - "A Herpesviridae infectious disease that results_in infection, has_agent Human herpesvirus 4, which is transmitted_by contact with the saliva." "MedDRA:10015108 UMLS:C0149678 MESH:D020031 NCIt:C38759 MeSH:D020031 MEDGEN:57439 NCIT:C38759 DOID:2938 MONDO:0005111" "Any measurable or observable characteristic related to the size of the tragus, a small pointed eminence of the external ear, situated in front of the concha, and projecting backward over the meatus" "A cell line derived from epithelial cells of human breast carcinoma." @@ -51499,7 +51112,7 @@ "Any process that modulates the frequency, rate or extent of mitosis." "Quantification of triacylglycerol 51:1 in a sample." "PMID:35668104" "OBSOLETE. Autosomal dominant form of disease with diffuse palmoplantar keratoderma as a major feature." "Orphanet:98352" - "An octadecadienoate with cis- double bonds at the 9- and 12- positions; the conjugate base of linoleic acid." "KEGG:C01595 CAS:1509-85-9 Gmelin:667201 Beilstein:4139597 Reaxys:4139597 MetaCyc:LINOLEIC_ACID" + "An octadecadienoate with cis- double bonds at the 9- and 12- positions; the conjugate base of linoleic acid." "KEGG:C01595 CAS:1509-85-9 Gmelin:667201 Reaxys:4139597 MetaCyc:LINOLEIC_ACID" "The epithelial layer of the lung." "EMAPA:32860 MA:0001783 BTO:0001653" "Quantification of serine palmitoyltransferase 1 in a sample." "PMID:29875488" @@ -51520,7 +51133,6 @@ "A bovine respiratory disease complex which is an infectious disease in calves involving stress and possibly an initial respiratory viral infection followed by a secondary bacterial infection of the lower respiratory tract. Mycoplasmal and bacterial agents including Pasteurella multocida, Mannheimia haemolytica, and Mycoplasma bovis represent the most frequently isolated pathogenic organisms." "MeSH:D048089 DOID:13274" "Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies." "MEDGEN:341558 UMLS:C1856466 icd11.foundation:2011995320 Orphanet:2075 OMIM:231060 MESH:C537683 GARD:2460" - "Neoplasms of the sublingual glands." "UMLS:C0038554 MeSH:D013362 MEDGEN:21371 MESH:D013362 SCTID:126790004 NCIT:C3392 MONDO:0021242" "Microcephaly-thin corpus callosum-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated." "UMLS:C3810080 MEDGEN:816410 DOID:0081205 Orphanet:397951 OMIM:615599 GARD:17645" "MEDGEN:825458 SCTID:703270004 UMLS:C3839613 GARD:20453 Orphanet:210589" "DOID:12566 ICD9:616.50 ICD9:616.51 UMLS:C0156339 SCTID:68640004 MEDGEN:510247 ICD10CM:N76.6" @@ -51536,6 +51148,7 @@ "Human acute myeloid leukemia established from the peripheral blood of a 35-year-old woman with acute myeloid leukemia (AML FAB M2) in 1976." "BTO:0000738" "OMIM:603457 ICD10:Q87.0" + "An instrument that is capable of repeatedly altering and maintaining specific temperatures for defined periods of time."@en "NCIt:C78811 MO:854" "An instrument that is capable of repeatedly altering and maintaining specific temperatures for defined periods of time." "NCIt:C78811 MO:854" "Quantification of fetal and adult testis-expressed transcript protein in a sample." "PMID:29875488" "quantification of the amount of alpha-1-antichymotrypsin in a sample" @@ -51574,7 +51187,7 @@ "The amount of a neuroligin-4, Y-linked when measured in blood serum." "SNOMEDCT:433579005" "A volume unit which is equal to 10^[-12] L." "NCIt:C64780 MO:721 SNOMEDCT:258775009" - "A glycine derivative having methyl and amidino groups attached to the nitrogen." "PMID:12184144 DrugBank:DB00148 PDBeChem:CRN PMID:21698493 PMID:22465051 PMID:22038587 KEGG:C00300 Drug_Central:4661 PMID:19968328 PMID:19741514 NCIt:C37937 PMID:11356982 Gmelin:240513 PMID:7752905 PMID:22386973 PMID:17190852 Chemspider:566 PMID:21556832 Reaxys:907175 PMID:22521466 PMID:22101931 PMID:12085493 PMID:19082141 SNOMEDCT:14804005 Beilstein:907175 Wikipedia:Creatine PMID:11483809 PMID:11867929 PMID:22196490 HMDB:HMDB0000064 CAS:57-00-1 PMID:21660517 PMID:22347384 PMID:12878267 PMID:17416441 PMID:18555535 PMID:22422801 PMID:17253521 PMID:16445883 MetaCyc:CREATINE PMID:22252611 PMID:22429992 MeSH:D003401 PMID:19651674" + "A glycine derivative having methyl and amidino groups attached to the nitrogen." "PMID:12184144 DrugBank:DB00148 PDBeChem:CRN PMID:21698493 PMID:22465051 PMID:22038587 KEGG:C00300 Drug_Central:4661 PMID:19968328 PMID:19741514 NCIt:C37937 PMID:11356982 Gmelin:240513 PMID:7752905 PMID:22386973 PMID:17190852 Chemspider:566 PMID:21556832 Reaxys:907175 PMID:22521466 PMID:22101931 PMID:12085493 PMID:19082141 SNOMEDCT:14804005 Wikipedia:Creatine PMID:11483809 PMID:11867929 PMID:22196490 HMDB:HMDB0000064 CAS:57-00-1 PMID:21660517 PMID:22347384 PMID:12878267 PMID:17416441 PMID:18555535 PMID:22422801 PMID:17253521 PMID:16445883 MetaCyc:CREATINE PMID:22252611 PMID:22429992 MeSH:D003401 PMID:19651674" "DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3)." "GARD:9837 SCTID:725079003 DOID:0080562 MEDGEN:419694 MESH:C535748 Orphanet:86309 UMLS:C2931004 OMIM:608093 NCIT:C126874" "Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome." "UMLS:C0206711 NCIT:C7368 DOID:5374 MeSH:D018296 OMIM:132600 MESH:D018296 MONDO:0007564 Orphanet:91414 GARD:9452 MedDRA:10035040 ICDO:8110/0 MEDGEN:61666 icd11.foundation:378820295 SCTID:274901004" "Quantification of the ratio of 3-Indolepropionic acid to Cyclic AMP ratio in a sample." "PMID:33634981" @@ -51607,7 +51220,7 @@ "Autosomal dominant form of osteopetrosis (disease)." "OMIMPS:607634 NCIT:C129732 UMLS:C4272579 MEDGEN:1378401" "Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." "Orphanet:116 NANDO:2200959 MedDRA:10050344 NORD:845 UMLS:C0004903 OMIM:130650 MEDGEN:2562 MESH:D001506 GARD:3343 NCIT:C34415 DOID:5572 SCTID:81780002 ICD9:759.89 icd11.foundation:803086260" - "A quinolone that is quinolin-4(1H)-one bearing cyclopropyl, carboxylic acid, fluoro and piperazin-1-yl substituents at positions 1, 3, 6 and 7, respectively." "VSDB:1763 MeSH:D002939 CAS:85721-33-1 Beilstein:3568352 PMID:10397494 PDBeChem:CPF PMID:10737746 DrugBank:DB00537 SNOMEDCT:7577004 LINCS:LSM-5226 Drug_Central:659 SNOMEDCT:372840008 HMDB:HMDB0014677 KEGG:C05349 Wikipedia:Ciprofloxacin Reaxys:3568352 NCIt:C375 Patent:DE3142854 KEGG:D00186 Patent:US4670444" + "A quinolone that is quinolin-4(1H)-one bearing cyclopropyl, carboxylic acid, fluoro and piperazin-1-yl substituents at positions 1, 3, 6 and 7, respectively." "VSDB:1763 MeSH:D002939 CAS:85721-33-1 PMID:10397494 PDBeChem:CPF PMID:10737746 DrugBank:DB00537 SNOMEDCT:7577004 LINCS:LSM-5226 Drug_Central:659 SNOMEDCT:372840008 HMDB:HMDB0014677 KEGG:C05349 Wikipedia:Ciprofloxacin Reaxys:3568352 NCIt:C375 Patent:DE3142854 KEGG:D00186 Patent:US4670444" "A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)" "DOID:14221 OMIM:605552 MeSH:D024821 MedDRA:10052066 ICD9:277.7 SNOMEDCT:237602007 NCIt:C84442 OMIM:615812" "Mature interstitial dendritic cell is a interstitial dendritic cell that is CD80-high, CD86-high, MHCII-high and is CD83-positive." "Vein that is central to a lobule in the liver." "ZFA:0005168 NCIT:C32281 FMA:17544 SCTID:272023004 Wikipedia:Central_veins_of_liver TAO:0005168" @@ -51979,7 +51592,7 @@ "OBSOLETE. Disorders caused by the intentional or unintentional ingestion or exposure to chemical substances such as pharmaceutical preparations; noxae; and pesticides." "MESH:D064419" "A tissue-resident macrophage resident found in the thymus, involved in the clearance of apoptotic thymocytes." - "A hydroxypolyether that is nonaethylene glycol in which one of the terminal hydroxy functions is substituted by a lauryl (dodecyl) group." "PMID:19161266 PMID:21111641 CAS:3055-99-0 PMID:21740464 PMID:15288214 PDBeChem:CE9 PMID:19912070 Reaxys:1895308 PMID:21393261 PMID:20737152 PMID:21849198 PMID:21290126 PMID:22241291 KEGG:C13493 PMID:22050766 Wikipedia:Polidocanol PMID:20348378 PMID:22238058 Beilstein:1895308 PMID:22309639 PMID:21557180 PMID:21818522 PMID:22230599" + "A hydroxypolyether that is nonaethylene glycol in which one of the terminal hydroxy functions is substituted by a lauryl (dodecyl) group." "PMID:19161266 PMID:21111641 CAS:3055-99-0 PMID:21740464 PMID:15288214 PDBeChem:CE9 PMID:19912070 Reaxys:1895308 PMID:21393261 PMID:20737152 PMID:21849198 PMID:21290126 PMID:22241291 KEGG:C13493 PMID:22050766 Wikipedia:Polidocanol PMID:20348378 PMID:22238058 PMID:22309639 PMID:21557180 PMID:21818522 PMID:22230599" "Schistosomiasis caused by Schistosoma mansoni. It is endemic in Africa, the Middle East, South America, and the Caribbean and affects mainly the bowel, spleen, and liver." "MedDRA:10039609 MeSH:D012555 ICD10:B65.1" "An infectious process affecting the vagina. Symptoms include pain and purulent discharge." "icd11.foundation:1436361154 NCIT:C84353 MEDGEN:140795 SCTID:237091009 UMLS:C0404521" "Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Abnormal, 47XX +17, addition to 9 [80%]; Normal, 46XX [10%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on 10% KOSR medium." @@ -52010,7 +51623,7 @@ "Quantification of calcium-binding protein 8 in a sample." "PMID:29875488" "The most posterior of the three principal regions of the brain, forming the rhombencephalon and all or most of the metencephalon. Kimmel et al, 1995." "MFO:0002340 MA:0000195 MAT:0000107 TAO:0000029 XAO:0000015 ZFA:0000029 EHDAA:3514 BTO:0000672 EMAPA:16916 NIFSTD:birnlex_942 SAEL:50 FMA:67687" - "Acute or chronic inflammation of one or more lymph nodes. It is usually caused by an infectious process." "ICD9:683 NCIT:C26821 MEDGEN:7410 DOID:1602 SCTID:41174002 UMLS:C0024205 ICD9:289.1 MESH:D008199 HP:0002840 icd11.foundation:1483611415" + "Acute or chronic inflammation of one or more lymph nodes. It is usually caused by an infectious process." "NCIT:C26821 MEDGEN:7410 DOID:1602 SCTID:41174002 UMLS:C0024205 ICD9:289.1 MESH:D008199 HP:0002840 icd11.foundation:1483611415 ICD9:683" "Direct, quantitative approach to assess DNA methylation patterns associated with chromatin modifications or chromatin-associated factors. The ChIP-capturing step is used to obtain a restricted representation of the genome occupied by the epigenetic feature of interest. The captured DNA fragments are subjected to end-repair, adapter ligation using methylated adapters, bisulfite conversion, PCR amplification, and NGS." "PMID:21913084" "An immune response to foreign (donor) antigens due to fetomaternal hemorrhage (ie, transplacental passage of fetal erythrocytes) associated with delivery, trauma, spontaneous or induced abortion, ectopic pregnancy, or invasive obstetric procedures." "A cardiomyopathy that is due to abnormalities in heart muscle cells." "DOID:0060036" @@ -52023,7 +51636,7 @@ "The determination of the amount of hemoglobin in reticulocytes within a sample. [ NCI ]" "NCIt:C98776 UMLS:C3890034" "Quantification of t-cell immunomodulatory protein in a sample." "PMID:29875488" - "A member of the class of N-nitrosoureas that is urea in which one of the nitrogens is substituted by ethyl and nitroso groups." "PMID:22238669 PMID:16423555 PMID:21861612 PMID:22012195 KEGG:C19178 PMID:23551873 PMID:8603364 CAS:759-73-9 PMID:11732210 Beilstein:1761174 PMID:24175309 Reaxys:1761174 PMID:11853764 PMID:11880538 Wikipedia:ENU" + "A member of the class of N-nitrosoureas that is urea in which one of the nitrogens is substituted by ethyl and nitroso groups." "KEGG:C19178 Wikipedia:ENU PMID:11880538 PMID:22012195 PMID:8603364 PMID:16423555 PMID:24175309 PMID:22238669 PMID:23551873 PMID:21861612 PMID:11853764 Reaxys:1761174 PMID:11732210 CAS:759-73-9" "Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure." "MESH:C536739 MEDGEN:140926 DOID:0090060 icd11.foundation:2096915129 OMIM:226980 SCTID:254066006 NCIT:C131007 UMLS:C0432217 GARD:5589 Orphanet:1667" "Quantification of cadherin-related family member 3 in a sample." "PMID:29875488" "UMLS:C0231678 SNOMEDCT_US:43689004" @@ -52071,7 +51684,6 @@ "Human embryonic stem cell line from a female donor" "An increased concentration of leucine in the blood." "UMLS:C0268576 SNOMEDCT_US:24013007" "MEDGEN:1850358 UMLS:C5882689 OMIM:620502" - "lumbar disc degeneration is a degeneration of one or more intervertebral disc(s) of the spine." "NCIT:C26983 UMLS:C0158266 ICD9:722.6 MedDRA:10024991 OMIM:603932 DOID:90 SCTID:77547008 MEDGEN:102357 MONDO:0011385 MeSH:C535531 MESH:D055959" "A natural killer cell that is developmentally mature and expresses a variety of inhibitory and activating receptors that recognize MHC class I and other stress related molecules." "ZFA:0009347" "Drug- or toxin-induced pulmonary arterial hypertension (PAH) is a form of pulmonary arterial hypertension (PAH) secondary to the exposition to drugs. Drug- or toxin-induced PAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. Drug or toxin induced PAH is progressive and potentially fatal." "GARD:21026 MEDGEN:573792 UMLS:C0340544 MONDO:0017149 Orphanet:275786" "The quantification of triacylglycerol 54:9 levels in some body fluid, used as a biomarker for disease." "PMID:23823483" @@ -52105,7 +51717,6 @@ "The amount of a patatin-like phospholipase domain-containing protein 2 when measured in blood serum." "The determination of the amount of coagulation factor X in a sample" "PMID:28240269" - "Increase in constituent cells in the PROSTATE, leading to enlargement of the organ (hypertrophy) and adverse impact on the lower urinary tract function. This can be caused by increased rate of cell proliferation, reduced rate of cell death, or both." "HP:0008711 NCIT:C2897 ICD9:600.0 ICD10:N40 DOID:11132 ICD9:600.20 SCTID:266569009 SNOMEDCT:266569009 MeSH:D011470 UMLS:C1704272 MEDGEN:312369 ICD9:600 MONDO:0010811 MedDRA:10004446 MESH:D011470 OMIM:600082 NCIt:C2897 DOID:2883" "The amount of a N-alpha-acetyltransferase 50 when measured in blood serum." "Early-onset epilepsy with or without developmental delay (EPEDD) is an autosomal dominant neurologic disorder characterized by the onset of generalized tonic-clonic seizures in the first days, months, or years of life. The severity is highly variable: some patients have normal psychomotor development and normal brain imaging, whereas others may show developmental delay associated with abnormalities on brain imaging." "OMIM:618832" @@ -52177,14 +51788,13 @@ "Wikipedia:Mitomycin DrugBank:DB00305 LINCS:LSM-6310 PMID:36194168 Beilstein:3570056 KEGG:C06681 Drug_Central:1819 PMID:36473690 KEGG:D00208 KNApSAcK:C00018668 PMID:36453313 CAS:50-07-7" "A reticulocyte that is Ly76-high and is Kit-negative." "NCIT:C5429 DOID:4690 MEDGEN:234134 UMLS:C1332981" - "An aromatic ketone that is propiophenone carrying a tert-butylamino group at position 2 and a chloro substituent at position 3 on the phenyl ring." "CAS:34841-39-9 DrugBank:DB01156 LINCS:LSM-1267 PMID:12826985 KEGG:C06860 Drug_Central:435 PMID:15876900 HMDB:HMDB0001510 KEGG:D07591 Wikipedia:Bupropion Reaxys:2101062 Beilstein:2101062 MetaCyc:CPD-3481 CAS:34911-55-2" + "An aromatic ketone that is propiophenone carrying a tert-butylamino group at position 2 and a chloro substituent at position 3 on the phenyl ring." "CAS:34841-39-9 DrugBank:DB01156 LINCS:LSM-1267 PMID:12826985 KEGG:C06860 Drug_Central:435 PMID:15876900 HMDB:HMDB0001510 KEGG:D07591 Wikipedia:Bupropion Reaxys:2101062 MetaCyc:CPD-3481 CAS:34911-55-2" "Quantification of the velocity of nerve conduction, often used to measure peripheral nerve function." "PMID:30992453" "The amount of a heterogeneous nuclear ribonucleoprotein L-like when measured in blood serum." "A syndrome characterized by hypotrichosis, syndactyly, intellectual deficit and early eruption of teeth. It has been described in two patients. The mode of transmission appears to be autosomal recessive." "GARD:18763 Orphanet:2266 MEDGEN:1371854 UMLS:C4509839" "Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients." "UMLS:C2931551 Orphanet:2101 MEDGEN:419108 MESH:C537621 GARD:2576 OMIM:233810" "Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." "OMIM:206900 ICD10:Q87.8" - "A syndrome that involves occipital head aches, nystagmus on head movement, tinnitus, spasms, blurred vision, corneal hyperaesthesia, and corneal ulcers." "MONDO:0005663 MedDRA:10068282 MESH:D055010 ICD10CM:M53.0 MEDGEN:87688 DOID:6692 SCTID:17300000 NCIT:C34411 UMLS:C0376378 ICD9:723.2 MeSH:D055010" "Osteodysplasty, Melnick-Needles type (MNS) is a severe form of frontootopalatodigital syndrome (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in significant effects on the craniofacial skeleton including impaired speech and masticatory problems." "MedDRA:10060908 OMIM:309350 UMLS:C0025237 ICD10:Q77.8" "Quantification of free cholesterol to total lipids in chylomicrons and extremely large VLDL." "Fisher344 is a rat strain as described in http://www.ratmap.org/ShowStrainDetails.html?strain=72" @@ -52246,7 +51856,7 @@ "quantification of some aspect of reproductive behaviour such as age at first birth or number of children" "PMID:27798627" "The amount of a muscular LMNA-interacting protein when measured in blood serum." "A cervical thymus that is located deep in the ventral cervical region, superficial to hyoid, sternomastoid, and depressor neck muscles." - "Lower, narrow portion of the uterus where it joins with the top end of the vagina." "BTO:0002249 MESH:D002584 SCTID:181453009 MAT:0000292 galen:CervixUteri EFO:0000979 BTO:0001421 FMA:17740 EMAPA:29927 Wikipedia:Cervix EV:0100114 VHOG:0001359 GAID:376 CALOHA:TS-0134 MA:0000392 NCIT:C12311 UMLS:C0007874" + "Lower, narrow portion of the uterus where it joins with the top end of the vagina." "BTO:0002249 MESH:D002584 SCTID:181453009 MAT:0000292 galen:CervixUteri EFO:0000979 BTO:0001421 FMA:17740 EMAPA:29927 Wikipedia:Cervix EV:0100114 VHOG:0001359 GAID:376 CALOHA:TS-0134 MA:0000392 UMLS:C0007874 NCIT:C12311" "ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome (CS; see this term) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS (see this term)." "Orphanet:189427 MEDGEN:923388 DOID:0111622 GARD:10824 SCTID:720459002 UMLS:C2062388 NANDO:2200353 MESH:C565662 MONDO:0009049" "Massively parallel reporter assay (MPRA)" "PMID:26576614" "MESH:D010211 SCTID:6141006 ICD9:362.83 MEDGEN:69183 DOID:6929 UMLS:C0242420" @@ -52320,7 +51930,7 @@ "Orphanet:300313 GARD:17365 UMLS:C4751114 MEDGEN:1659966 OMIM:614482" - "Neoplasms of the endometrial stroma that sometimes involve the myometrium. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (sarcoma, endometrial stromal)." "MEDGEN:87280 MONDO:0003311 SNOMEDCT:68738004 DOID:5166 MeSH:D036821 MESH:D036821 ICD9:239.5 UMLS:C0334695 SCTID:446887007" + "Neoplasms of the endometrial stroma that sometimes involve the myometrium. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (sarcoma, endometrial stromal)." "MEDGEN:87280 SNOMEDCT:68738004 MONDO:0003311 DOID:5166 MeSH:D036821 MESH:D036821 ICD9:239.5 UMLS:C0334695 SCTID:446887007" "MEDGEN:1684882 UMLS:C5231406 OMIM:618549" "The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres)." "SO:0000624" @@ -52389,7 +51999,7 @@ "Any bilateral striopallidodentate calcinosis in which the cause of the disease is a mutation in the XPR1 gene." "MEDGEN:901404 GARD:16107 OMIM:616413 UMLS:C4225335" "Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients." "OMIM:191482 MEDGEN:348658 Orphanet:1264 GARD:938 SCTID:719910004 UMLS:C1860605 icd11.foundation:200680230 MESH:C536576" "ICD10:E75.4 OMIM:204200" - "A primary alcohol that is butane in which a hydrogen of one of the methyl groups is substituted by a hydroxy group. It it produced in small amounts in humans by the gut microbes." "KEGG:C06142 Reaxys:969148 PMID:23980702 Wikipedia:N-Butanol CAS:71-36-3 PPDB:1309 KEGG:D03200 PMID:7096503 Beilstein:969148 PDBeChem:1BO HMDB:HMDB0004327 Gmelin:25753 MetaCyc:BUTANOL DrugBank:DB02145" + "A primary alcohol that is butane in which a hydrogen of one of the methyl groups is substituted by a hydroxy group. It it produced in small amounts in humans by the gut microbes." "KEGG:C06142 Reaxys:969148 PMID:23980702 Wikipedia:N-Butanol CAS:71-36-3 PPDB:1309 KEGG:D03200 PMID:7096503 PDBeChem:1BO HMDB:HMDB0004327 Gmelin:25753 MetaCyc:BUTANOL DrugBank:DB02145" "Brooke-Spiegler syndrome (BSS) is an inherited predisposition syndrome presenting with skin appendage tumors, namely cylindromas, spiradenomas and trichoepitheliomas. A minority of patients can also get major and minor salivary glands neoplasms, usually membranous basal cell adenoma." "ICD9:239.2 DOID:0050693 UMLS:C1857941 OMIM:605041 GARD:0010179 Orphanet:79493 SCTID:703531009" "Any congenital nystagmus in which the cause of the disease is a mutation in the FRMD7 gene." "MEDGEN:333352 MESH:C537853 UMLS:C1839580 DOID:0111790 OMIM:310700" "Quantification of adipose tissue located around the abdomen." "PMID:35773277" @@ -52482,7 +52092,6 @@ "Accumulation of intraretinal fluid and protein in the macula, which may result in swelling and decreased central vision." "UMLS:C0271051 MEDGEN:75732 NCIT:C35468 DOID:4449 SCTID:37231002" "A disease that involves the nerve plexus." "NCIT:C27744 DOID:3688 UMLS:C0270891 ICD10:G54 UMLS:C1335437 MONDO:0024432 SCTID:2231001 MEDGEN:543047 NCIt:C27744" "A method that uses DNA-tagged antibodies to quantify proteins in single cells." - "A disease that involving errors in metabolic processes." "MESH:D008659 NCIt:C3235 MONDO:0005066 DOID:0014667 MEDGEN:44376 SNOMEDCT:75934005 ICD9:277.9 ICD10WHO:E70-E90 SCTID:75934005 ICD10CM:E70-E88 NANDO:1100002 NCIT:C3235 MeSH:D008659 UMLS:C0025517 ICD9:277.8" "UMLS:C4748120 MEDGEN:1648308 OMIM:618087" "The determination of the amount of angiopoietin-related protein 4 in a sample" "PMID:28240269" "The determination of the amount of aurora kinase A in a sample" "PMID:28240269" @@ -52668,7 +52277,6 @@ "Quantification of the amount of X-14056 in a sample." "PMID:24816252" "Is a quantification of the secreted glycoprotein YKL-40 (Chitinase-3-like protein 1) YKL-40 has been associated with asthma, inflammatory disease and cancer progression." "The amount of a centrosomal protein of 76 kDa when measured in blood serum." - "FIBROSIS of the hepatic parenchyma due to chronic excess ALCOHOL DRINKING." "DOID:14018 NCIt:C34782 SNOMEDCT:420054005 CSP:1754-7677 MONDO:0006644 MESH:D008104 SCTID:419728003 ICD10CM:K70.3 NCIT:C34782 ICD10:K70.3 ICD9:571.2 MEDGEN:6125 MeSH:D008104 MedDRA:10001618 UMLS:C0023891" "Any peeling skin syndrome in which the cause of the disease is a mutation in the CDSN gene." "Orphanet:263553 MEDGEN:336530 DOID:0070520 GARD:17259 UMLS:C1849193 OMIM:270300" "The amount of a keratin, type II cytoskeletal 5 when measured in blood serum." "Abnormally reduced levels of aldosterone." "UMLS:C0020595 SNOMEDCT_US:60086000 UMLS:C1846226 UMLS:C0857899" @@ -52852,7 +52460,7 @@ "An abnormality of the female internal genitalia." "ICD10:Q51 UMLS:C4025900 ICD10:R87" "Quantification of the amount of 4-hydroxyhippurate measurement in a sample." "PMID:24816252" "Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulfur containing keratins)." "Orphanet:33364 NORD:1292 OMIMPS:601675 MedDRA:10044628 UMLS:C1955934 icd11.foundation:1366758649 NANDO:1200627 DOID:0111866 GARD:12109 NCIT:C4924 SCTID:723551003 MEDGEN:363064" - "A thiopurine that is 6-mercaptopurine in which the mercapto hydrogen is replaced by a 1-methyl-4-nitroimidazol-5-yl group. It is a prodrug for mercaptopurine and is used as an immunosuppressant, prescribed for the treatment of inflammatory conditions and after organ transplantation and also for treatment of Crohn's didease and MS." "PMID:28166217 PMID:19243907 PMID:16344342 ChEMBL:531141 PMID:16954801 NCIt:C290 PMID:16764353 SNOMEDCT:111165009 PMID:15476481 PMID:18336531 KEGG:C06837 CAS:446-86-6 PMID:18008354 PMID:15973722 ChemIDplus:446-86-6 PMID:25440430 Drug_Central:269 PMID:8738760 MeSH:D001379 PMID:17970886 PMID:17381669 PMID:25581826 KEGG DRUG:D00238 PMID:25641386 PMID:15199672 Reaxys:1225351 PMID:16397313 PMID:11064448 PMID:25314066 KEGG DRUG:446-86-6 KEGG:D00238 PMID:9273463 PMID:25248004 PMID:15628319 SNOMEDCT:372574004 PMID:25443086 Wikipedia:Azathioprine PMID:20080917 PMID:9345422 DrugBank:DB00993" + "A thiopurine that is 6-mercaptopurine in which the mercapto hydrogen is replaced by a 1-methyl-4-nitroimidazol-5-yl group. It is a prodrug for mercaptopurine and is used as an immunosuppressant, prescribed for the treatment of inflammatory conditions and after organ transplantation and also for treatment of Crohn's didease and MS." "PMID:28166217 PMID:19243907 PMID:16344342 ChEMBL:531141 PMID:16954801 NCIt:C290 PMID:16764353 SNOMEDCT:111165009 PMID:15476481 PMID:18336531 KEGG:C06837 CAS:446-86-6 PMID:18008354 PMID:15973722 ChemIDplus:446-86-6 PMID:25440430 Drug_Central:269 PMID:8738760 MeSH:D001379 PMID:17970886 PMID:17381669 PMID:25581826 KEGG DRUG:D00238 PMID:25641386 PMID:15199672 Reaxys:1225351 PMID:16397313 PMID:11064448 PMID:25314066 KEGG DRUG:446-86-6 KEGG:D00238 PMID:9273463 PMID:15628319 PMID:25248004 SNOMEDCT:372574004 PMID:25443086 Wikipedia:Azathioprine PMID:20080917 PMID:9345422 DrugBank:DB00993" "Transcriptome in vivo analysis (TIVA)" "PMID:24412976" "A crenated erythrocyte with 30+ crenations, bumps or spurs that are the result of damage due to age or disease." "FMA:81099" "KEGG:C06263 WebElements:Si CAS:7440-21-3" @@ -52938,7 +52546,6 @@ "Retroperitoneal fibrosis (RPF) is characterized by the development of a fibrotic mass surrounding retroperitoneal structures, such as aorta, vena cava, ureters and psoas muscle." "NCIT:C26876 UMLS:C0035357 Orphanet:49041 ICD9:593.4 MedDRA:10038979 GARD:9568 SCTID:197808006 icd11.foundation:900354709 NORD:1665 MEDGEN:20554 MESH:D012185" "An disease caused by infection with Enterovirus." "DOID:4808 UMLS:C0014378 MEDGEN:8647 ICD9:079.89 MONDO:0005747 SCTID:53648006 MESH:D004769 MeSH:D004769" "The amount of a GDP-mannose 4,6 dehydratase when measured in blood serum." - "A non-neoplastic or neoplastic disorder affecting the inner ear. Causes are inner ear infections, head injuries, and neoplasms (e.g., acoustic schwannoma). Symptoms include dizziness, imbalance, nausea, and vision problems. [database_cross_reference: NCIt:C27166]" "NCIt:C27166 MESH:D007759 MEDGEN:141671 MONDO:0002467 SCTID:232297009 ICD10CM:H80-H83 ICD10:H83 DOID:2952 NCIT:C27166 UMLS:C0494559" "UMLS:C4693688 OMIM:617933 DOID:0080434 MEDGEN:1639392" @@ -52991,14 +52598,14 @@ "The amount of a protein-tyrosine phosphatase mitochondrial 1 when measured in blood serum." "A primary, benign or malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. Representative examples include adenomyoma, adenosarcoma, and carcinosarcoma." "UMLS:C1519858 MEDGEN:311425 NCIT:C40181 GARD:20472 Orphanet:213589" - "A complication of malaria resulting from hemolysis." "SCTID:56625005 MedDRA:10004984 ICD9:084.8 UMLS:C0005681 MEDGEN:2277 MeSH:D001742 MONDO:0005670 MESH:D001742 DOID:14068 NCIT:C34426" + "A complication of malaria resulting from hemolysis." "SCTID:56625005 MedDRA:10004984 ICD9:084.8 UMLS:C0005681 MEDGEN:2277 MONDO:0005670 MeSH:D001742 MESH:D001742 DOID:14068 NCIT:C34426" "A trait that affects the response to a stimulus with Triptolide." "An inherited metabolic disease that is has its basis in the disruption of histidine metabolic process." "UMLS:C0268512 DOID:9265 GARD:18959 MEDGEN:541342 SCTID:44176004 Orphanet:79181 icd11.foundation:543162269 ICD10CM:E70.40 ICD9:270.5" "A substrate is the surface on which material, such as an organism, is grown or attached." "NCIt:C120264" "Infections with bacteria of the genus BACTEROIDES." "MESH:D001442 DOID:4641 UMLS:C0004669 MEDGEN:2164 SCTID:2918000 MONDO:0006671 MeSH:D001442 ICD9:041.84" "A sphingomyelin in which the total number of carbons contained in the sphingoid base and fatty acyl groups is 22 with zero double bonds." - "A monohydroxybenzoate that is the conjugate base of salicylic acid." "Beilstein:3605209 Gmelin:3417 KEGG:C00805 UM-BBD_compID:c0043 PMID:16934829 Reaxys:3605209 PMID:16669002 CAS:63-36-5" + "A monohydroxybenzoate that is the conjugate base of salicylic acid." "Gmelin:3417 KEGG:C00805 UM-BBD_compID:c0043 PMID:16934829 Reaxys:3605209 PMID:16669002 CAS:63-36-5" "Human B-lymphoblastoid cells established from peripheral blood lymphocytes of a 27-year-old white Caucasian woman by Epstein-Barr virus (EBV) transformation in 1990; suitable normal control cell line for toxicity or radiosensitivity assays confirmed as human with IEF of AST, NP." "OMIM:235400 MEDGEN:412743 UMLS:C2749604" "A quantification of the degree of mitochondrial heteroplasmy, i.e. the presence of different mitochondrial DNA variants in different mitochondria within the same individual organism or cell. Heteroplasmy can be inherited through the maternal germ line, or arise through somatic mitochondrial mutations within an individual." "PMID:33731350" @@ -53010,7 +52617,7 @@ "Quantification of transmembrane protein 234 in a sample." "PMID:29875488" "The result of a measurement of circulating antibodies specific to a neisseria meningitidis antigen." "PMID:37164013" "OMIM:608355 ICD10:Q87.2" - "A retinoic acid in which all four exocyclic double bonds have E- (trans-) geometry." "PMID:17447762 PMID:11556813 PMID:15539337 PMID:19587328 PMID:17073551 PMID:22532966 PMID:16688769 PMID:18183617 PMID:14704332 PMID:19144697 CAS:302-79-4 PDBeChem:REA KEGG:C00777 PMID:18162363 PMID:16569247 PMID:34091189 PMID:19597529 PMID:16920920 PMID:22177959 PMID:22428994 PMID:11214352 PMID:33820492 PMID:11896294 PMID:14581379 PMID:15376324 PMID:19841174 Wikipedia:Tretinoin LIPID_MAPS_instance:LMPR01090019 PMID:12958591 PMID:18400206 PMID:11437362 PMID:15839997 FooDB:FDB022710 PMID:22134377 PMID:15318809 Drug_Central:2722 PMID:18800767 HMDB:HMDB0001852 PMID:22741806 PMID:19018099 PMID:22180426 PMID:16685080 PMID:11343416 Beilstein:2057223 PMID:15359008 Reaxys:2057223 PMID:7501014 PMID:15476854 PMID:15537748 PMID:18678272 PMID:21924320 PMID:7961949 PMID:34050114 PMID:18977311 PMID:19814868 PMID:22534100 PMID:10970886 PMID:14627725 PMID:18052213 PMID:22261335 PMID:18085670 PMID:19427305 PMID:18440196 PMID:15327395 PMID:11904404 PMID:16819260 PMID:22244299 PMID:22538278 PMID:7704533 PMID:16720557 PMID:14705145 PMID:15675886 PMID:19112091 PMID:33662750 Wikipedia:Retinoic_acid PMID:29492455 PMID:22514600 KEGG:D00094 PMID:18318655 PMID:21898109 PMID:18404486 PMID:14605492 PMID:18322276 PMID:17166212 PMID:11073974 PMID:11332619 PMID:15194426 PMID:14978018 PMID:10022884 PMID:21993673 PMID:11722649 PMID:16847436 DrugBank:DB00755 PMID:18819820 PMID:27759097 PMID:17204142 PMID:34050360" + "A retinoic acid in which all four exocyclic double bonds have E- (trans-) geometry." "PMID:16720557 PMID:22180426 PMID:15318809 PMID:18800767 CAS:302-79-4 PMID:14605492 PMID:17447762 PMID:7704533 PMID:15839997 KEGG:D00094 PMID:22514600 PMID:11343416 PMID:14704332 Drug_Central:2722 PMID:33662750 Wikipedia:Tretinoin PMID:22532966 PMID:18400206 PMID:34050114 PMID:16569247 PMID:22741806 PMID:34091189 PMID:34050360 PMID:17073551 DrugBank:DB00755 PMID:18318655 PMID:19427305 PMID:15194426 PMID:15675886 PMID:11722649 PMID:21993673 PMID:22534100 PMID:11437362 PMID:15476854 PMID:29492455 PMID:22134377 PMID:12958591 PMID:22244299 PMID:7961949 PMID:17204142 PMID:16847436 PMID:19018099 PMID:16685080 PMID:22428994 PMID:15539337 PMID:18404486 PMID:18183617 PMID:10970886 PMID:16920920 PMID:18052213 PMID:14705145 PMID:14581379 Wikipedia:Retinoic_acid PMID:18322276 PMID:10022884 PMID:18085670 PMID:19587328 PMID:19112091 PMID:18678272 PMID:15376324 KEGG:C00777 PMID:19144697 PMID:19814868 PMID:22261335 PMID:21924320 PMID:22177959 PMID:15359008 PMID:18819820 Reaxys:2057223 PMID:7501014 PMID:11556813 PMID:21898109 PMID:22538278 PMID:15537748 HMDB:HMDB0001852 PDBeChem:REA PMID:33820492 PMID:27759097 PMID:17166212 LIPID_MAPS_instance:LMPR01090019 PMID:15327395 PMID:11332619 PMID:14627725 PMID:11073974 FooDB:FDB022710 PMID:11214352 PMID:16688769 PMID:16819260 PMID:19597529 PMID:11904404 PMID:18440196 PMID:19841174 PMID:18162363 PMID:11896294 PMID:18977311 PMID:14978018" "Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects." "UMLS:C0233844 SNOMEDCT_US:7006003" "MEDGEN:581450 SCTID:230293003 Orphanet:306686 UMLS:C0393565 GARD:21265" "Bacterial infections of the leptomeninges and subarachnoid space, frequently involving the cerebral cortex, cranial nerves, cerebral blood vessels, spinal cord, and nerve roots." "ICD9:320.89 GARD:5881 NCIt:C118297 MONDO:0006670 ICD9:320.9 ICD9:320 NCIT:C118297 SNOMEDCT:95883001 MEDGEN:39048 DOID:9470 MeSH:D016920 MedDRA:10004049 SCTID:95883001 UMLS:C0085437 icd11.foundation:684930313 ICD10:G00 MESH:D016920 ICD9:320.7" @@ -53035,7 +52642,7 @@ "UMLS:C0268335 OMIM:130000 MeSH:C536194 ICD10:Q79.6" "The amount of a B- and T-lymphocyte attenuator when measured in blood serum." "Any coronary artery disease in which the cause of the disease is a mutation in the CD36 gene." "UMLS:C1970441 OMIM:610938 MEDGEN:370260" - "a study design in which checks the accuracy or the quality of the result of an assay by comparing with reverse transcription PCR results" + "a study design in which checks the accuracy or the quality of the result of an assay by comparing with reverse transcription PCR results"@en "The amount of a ubiquitin-conjugating enzyme E2 T when measured in blood serum." "The process of preserving the structure and function of mature myelin. This includes maintaining the compact structure of myelin necessary for its electrical insulating characteristics as well as the structure of non-compact regions such as Schmidt-Lantermann clefts and paranodal loops. This does not include processes responsible for maintaining the nodes of Ranvier, which are not part of the myelin sheath." "SNOMEDCT:26352009 MeSH:D018051" @@ -53126,14 +52733,13 @@ "An inflammatory skin condition caused by direct contact between the skin and an irritating substance. It is typically manifested by erythema, mild edema, and scaling at the affected site." "DOID:2772 SCTID:110979008 UMLS:C0162823 ICD9:692.9 NCIT:C27151 ICD10:L24 MONDO:0006564 MESH:D017453 MEDGEN:56513" "Orphanet:98590" "A grade I, slowly growing meningioma. Only a minority of tumors recur following complete resection." "NCIT:C4055 UMLS:C0281784 MEDGEN:129095 SCTID:724171006 DOID:4587" - " bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness." "MEDGEN:48290 MESH:D011778 SCTID:186788009 NCIt:C34970 DOID:11100 icd11.foundation:2113860626 NCIT:C34970 GARD:7515 ICD10CM:A78 NORD:1643 MeSH:D011778 Orphanet:781 MONDO:0019186 UMLS:C0034362 MedDRA:10037731 MedDRA:10037688 ICD9:083.0 SNOMEDCT:186788009" "A disease or disorder that involves the cardiac ventricle." "SCTID:415991003 UMLS:C1562298 MEDGEN:736361" "The determination of the amount of ephrin type-a receptor 2 in a sample" "PMID:28240269" "Ambulation or other complex motor behaviors may occur after getting out of bed in a sleep-like state. During sleepwalking episodes, the individual who is somnambulating appears confused or dazed, with their eyes usually open. They may mumble or give inappropriate answers to questions, and occasionally appear agitated." "Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare." "GARD:438 NCIT:C142081 SCTID:715340002 Orphanet:62 DOID:0110278 OMIM:608099 MEDGEN:424706 UMLS:C2936332" "Quantification of the amount of chlorpyrifos in a sample." "PMID:36006120" - "A one-carbon compound that is methane in which the hydrogens have been replaced by three chlorine and one fluorine atom." "Beilstein:1732469 Wikipedia:Trichlorofluoromethane PMID:5727092 CAS:75-69-4 Reaxys:1732469 PMID:24189105 PMID:1114326 PMID:8006631" + "A one-carbon compound that is methane in which the hydrogens have been replaced by three chlorine and one fluorine atom." "Wikipedia:Trichlorofluoromethane PMID:5727092 CAS:75-69-4 Reaxys:1732469 PMID:24189105 PMID:1114326 PMID:8006631" "A morphological abnormality of a digit, i.e., of a finger or toe." "UMLS:C3550704" "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" "OMIM:200170" @@ -53146,7 +52752,7 @@ "The amount of a tyrosine-protein kinase Mer when measured in blood." "PMID:38565889" "A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma." "UMLS:C0018552 SNOMEDCT_US:400006008 SNOMEDCT_US:51398009" "Orphanet:98591" - "An N-nitrosourea that is an antibiotic produced by Streptomyces achromogenes. It is used as an antineoplastic agent and to induce diabetes in experimental animals." "Wikipedia:Streptozocin MeSH:D013311 CAS:18883-66-4 Patent:US4156777 PMID:2954873 NCIt:C845 PMID:23151907 KEGG:D05932 Patent:US2005272738 DrugBank:DB00428 SNOMEDCT:404876000 Patent:FR1434920 PMID:23600389 SNOMEDCT:16915004 PMID:12613763 Patent:US2005271747 Beilstein:2060675 Patent:US2008085882 PMID:23662406 HMDB:HMDB0014572 KEGG:C07313 PMID:23333576 Reaxys:2060675 PMID:23612842" + "An N-nitrosourea that is an antibiotic produced by Streptomyces achromogenes. It is used as an antineoplastic agent and to induce diabetes in experimental animals." "Wikipedia:Streptozocin MeSH:D013311 CAS:18883-66-4 Patent:US4156777 PMID:2954873 NCIt:C845 PMID:23151907 KEGG:D05932 Patent:US2005272738 DrugBank:DB00428 SNOMEDCT:404876000 Patent:FR1434920 PMID:23600389 SNOMEDCT:16915004 PMID:12613763 Patent:US2005271747 Patent:US2008085882 PMID:23662406 HMDB:HMDB0014572 KEGG:C07313 PMID:23333576 Reaxys:2060675 PMID:23612842" "The amount of a trehalase when measured in blood." "PMID:37794183" "An autoinflammatory syndrome characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional manifestations may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy." "UMLS:C5676885 OMIM:301081 MEDGEN:1811268" @@ -53159,8 +52765,8 @@ "ICD10:E72.8 UMLS:C0268525 MeSH:C535322 OMIM:260005" "Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." "NANDO:1200974 NANDO:2200515 SCTID:237999008 OMIMPS:609015 NCIT:C98991 Orphanet:746 NANDO:2201147 ICD9:277.85 MESH:C566945 MEDGEN:370665 icd11.foundation:1018083832 DOID:0111277 UMLS:C1969443 GARD:3684" "Pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern." "OMIMPS:607596 UMLS:C1261175 icd11.foundation:1565266279 MESH:C580383 DOID:0060264 Orphanet:98523 GARD:10977 NORD:1596 MEDGEN:224703 SCTID:45163000" - "A methoxybenzoate that is the conjugate base of vanillic acid." "Beilstein:6504377 DrugBank:DB08711 KEGG:C06672 Reaxys:6504377 UM-BBD_compID:c0194 PDBeChem:VNL" - "An organic tricyclic compound that is 10,11-dihydro-5H-dibenzo[a,d][7]annulene substituted by a 3-(dimethylamino)propylidene group at position 5." "VSDB:2962 NCIt:C62005 LINCS:LSM-3190 Drug_Central:180 SNOMEDCT:372726002 Beilstein:2217885 Patent:CN101780063 PMID:18359012 KEGG:D07448 Reaxys:2217885 Patent:WO2011089289 PMID:24447704 PMID:15554244 DrugBank:DB00321 MeSH:D000639 CAS:50-48-6 SNOMEDCT:40589005 Wikipedia:Amitriptyline KEGG:C06824 HMDB:HMDB0014466" + "A methoxybenzoate that is the conjugate base of vanillic acid." "DrugBank:DB08711 KEGG:C06672 Reaxys:6504377 UM-BBD_compID:c0194 PDBeChem:VNL" + "An organic tricyclic compound that is 10,11-dihydro-5H-dibenzo[a,d][7]annulene substituted by a 3-(dimethylamino)propylidene group at position 5." "VSDB:2962 NCIt:C62005 LINCS:LSM-3190 Drug_Central:180 SNOMEDCT:372726002 Patent:CN101780063 PMID:18359012 KEGG:D07448 Reaxys:2217885 Patent:WO2011089289 PMID:24447704 PMID:15554244 DrugBank:DB00321 MeSH:D000639 CAS:50-48-6 SNOMEDCT:40589005 Wikipedia:Amitriptyline KEGG:C06824 HMDB:HMDB0014466" "The amount of a transcription intermediary factor 1-beta when measured in blood serum." "ICD10:D81.2" @@ -53226,16 +52832,13 @@ "Hypertrichosis is increased hair growth that is abnormal in quantity or location." "SNOMEDCT_US:271607001 UMLS:C0020555 SNOMEDCT_US:29966009" "An assay in which surface-bound, translationally competent ribosome complexes are used to generate a translation profile for mRNA, which mRNA may be a single molecular species, or a combination of species, including complex mixtures such as those found in the set of mRNAs isolated from a cell or tissue. One or more components of the surface-bound ribosome complex may be labeled at specific positions to permit analysis of multiple or single molecules for determination of ribosomal conformational changes and translation kinetics. Translation profiles are used as the basis for comparison of an mRNA or set of mRNA species. The translation profile can be used to determine such characteristics as kinetics of initiation, kinetic of elongation, identity of the polypeptide product, and the like. Analysis of translation profiles may be used to determine differential gene expression, optimization of mRNA sequences for expression, screening drug candidates for an effect on translation." "The amount of a interleukin-1 receptor-associated kinase 1 when measured in blood." "PMID:37794183" - "A deficiency of thyroid hormone." "NANDO:2100120 NCIT:C26800 MESH:D007037 DOID:1459 MONDO:0005420 UMLS:C0020676 icd11.foundation:1722092627 ICD9:244.9 MedDRA:10021114 MEDGEN:6991 ICD10:E03 SNOMEDCT:40930008 NCIt:C26800 SCTID:40930008 MeSH:D007037" "The amount of a ubiquitin-conjugating enzyme E2 D3 when measured in blood serum." "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene." "GARD:18140 OMIM:616044 UMLS:C3892048 DOID:0110586 MEDGEN:856147" - "Infection with human herpesvirus 4 (HERPESVIRUS 4, HUMAN); which may facilitate the development of various lymphoproliferative disorders. These include BURKITT LYMPHOMA (African type), INFECTIOUS MONONUCLEOSIS, and oral hairy leukoplakia (LEUKOPLAKIA, HAIRY)." "MedDRA:10015108 UMLS:C0149678 MESH:D020031 NCIt:C38759 MeSH:D020031 MEDGEN:57439 NCIT:C38759 DOID:2938 MONDO:0005111" "SNP genotyping-by-sequencing with double-enzymatic digestion of DArT markers (DArTSeq)" "PMID:28533412" "Heavy-chain diseases (HCDs) are rare monoclonal lymphoplasma-cell proliferative disorders involving B cells and are characterized by the synthesis of truncated heavy chains without associated light chains." "NCIT:C3082 SNOMEDCT:6381009 Orphanet:86864 DOID:0060125 MeSH:D006362 MEDGEN:5469 MedDRA:10019350 ICD10CM:C88.3 SCTID:68979007 DOID:60125 ICDO:9762/3 GARD:19074 NCIt:C3082 ORDO:Orphanet_86864 MONDO:0019464 ICD9:273.2 UMLS:C0018852 ICD10CM:C88.2 MESH:D006362" "Quantification of lysophosphatidylcholine acyl C16:0 measurement in a sample." "PMID:26068415" - "Unspecified juvenile idiopathic arthritis is a rare, pediatric, rheumatologic disease, a subtype of juvenile idiopathic arthritis (JIA) characterized by arthritis of an unknown cause that persists for at least 6 weeks, and does not fulfill the criteria for any of the other JIA subtypes, or fulfills criteria for more than one of the other subtypes. [ Orphanet:91140 ]" "MEDGEN:1842681 PMID:14760812 UMLS:C5680196 Orphanet:91140 GARD:19155 MONDO:0019607 NANDO:2201061" "A post-bacterial multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis." "UMLS:C0035436 MeSH:D012213 SCTID:81077008 ICD9:390-392.99 ICD9:390 DOID:1586 MEDGEN:48448 MedDRA:10039054 ICD10CM:I00-I02 NCIt:C34984 GARD:5699 MONDO:0017767 ICD10:I00 NORD:1668 NCIT:C34984 SNOMEDCT:58718002 MedDRA:10003088 MESH:D012213 Orphanet:3099 SCTID:58718002" "A general term used to describe any disease affecting blood vessels]. It includes vascular abnormalities caused by degenerative, metabolic and inflammatory conditions, embolic diseases, coagulative disorders, and functional disorders such as posteri or reversible encephalopathy syndrome." "ICD9:442.9 ICD10:K55 MONDO:0005385 MEDGEN:22621 MeSH:D014652 NANDO:2100294 ICD10CM:I70-I79 DOID:178 ICD10:I78 MESH:D014652 ICD10:I77 SCTID:27550009 ICD10:I87 UMLS:C0042373 NCIT:C35117 ICD10CM:I00-I99" "A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error." "ICD10:H50 UMLS:C0038379 SNOMEDCT_US:22066006 SNOMEDCT_US:128602000" @@ -53330,7 +52933,7 @@ "MEDGEN:1768257 UMLS:C5436874 GARD:18492 OMIM:619130" "Quantification of BCL2/adenovirus E1B 19 kDa protein-interacting protein 3 in a sample." "PMID:29875488" "Diabetes in NOD/ShiLtJ mice is characterized by insulitis, a leukocytic infiltrate of the pancreatic islets. Marked decreases in pancreatic insulin content occur in females at about 12 weeks of age and several weeks later in males. Onset of diabetes is marked by moderate glycosuria and by a non-fasting plasma glucose higher than 250 mg/dl. Diabetic mice are hypoinsulinemic and hyperglucagonemic, indicating a selective destruction of pancreatic islet beta cells. Susceptibility to IDDM in NOD/ShiLtJ mice is polygenic, and environment, including housing conditions, health status, and diet, exerts a strong effect on penetrance. NOD/ShiLtJ females are more widely used than males because the onset of IDDM symptoms occurs earlier and with a higher incidence (90-100% by 30 weeks of age). NOD/ShiLtJ males develop IDDM at a frequency of between 40-60% by 30-40 weeks of age. Male mice are useful for certain applications, including pharmaceutical studies, \"accelerated transfer\" of IDDM, and some in vitro studies. The major component of diabetes susceptibility in NOD mice is the unique MHC haplotype (H2g7 = Kd, Aad, Abg7, Enull, Db). NOD mice also exhibit multiple aberrant immunophenotypes including defective antigen presenting cell immunoregulatory functions, defects in the regulation of theT lymphocyte repertoire, defective NK cell function, defective cytokine production from macrophages (Fan et al., 2004) and impaired wound healing. They also lack hemolytic complement, C5. NOD/ShiLtJ mice also are severely hearing-impaired. A variety of mutations causing immunodeficiencies, targeted mutations in cytokine genes, as well as transgenes affecting immune functions, have been backcrossed into the NOD/ShiLt inbred strain background.\n\nDiabetes onset was monitored weekly between the ages of 3 and 30 weeks in 120 male and 120 female NOD/ShiLtJ bred in the Bar Harbor and Sacramento facilities. Mice were fed a 6% fat diet (LabDiet 5K0Q, St. Louis MO), ad libitum. Diabetes was defined by a non-fasting blood glucose level exceeding 250 mg/dL. Blood was sampled from the submandibular route and analyzed using a OneTouch Ultra 2 handheld glucometer that was validated using a control solution on each measurement day. Data were combined from three independent studies, each involving 40 males and 40 females. The median female onset was 17 weeks in each study, and the Kaplan-Meier curves from the individual studies did not differ significantly. " - "A ribonucleoside composed of a molecule of uracil attached to a ribofuranose moiety via a beta-N(1)-glycosidic bond." "PMID:12084455 MetaCyc:URIDINE KNApSAcK:C00019674 Gmelin:397474 HMDB:HMDB0000296 PMID:22392515 PMID:16839635 YMDB:YMDB00127 PMID:15621516 Reaxys:754904 DrugBank:DB02745 ECMDB:ECMDB00296 Wikipedia:Uridine PDBeChem:URI PMID:17190852 Beilstein:754904 KEGG:C00299 CAS:58-96-8 PMID:22770225" + "A ribonucleoside composed of a molecule of uracil attached to a ribofuranose moiety via a beta-N(1)-glycosidic bond." "PMID:12084455 MetaCyc:URIDINE KNApSAcK:C00019674 Gmelin:397474 HMDB:HMDB0000296 PMID:22392515 PMID:16839635 YMDB:YMDB00127 PMID:15621516 Reaxys:754904 DrugBank:DB02745 ECMDB:ECMDB00296 Wikipedia:Uridine PDBeChem:URI PMID:17190852 KEGG:C00299 CAS:58-96-8 PMID:22770225" "Human lung adenocarcinoma cell line" "An inflammatory bowel disease characterized by inflammation located in stomach and located in duodenum, has symptom nausea, has symptom vomiting, has symptom weight loss and has symptom loss of appetite." "MEDGEN:1613956 DOID:0060191 UMLS:C4544979" "Human non-Hodgkin's lymphoma cell line (DSMZ catalog number ACC 570)" @@ -53347,7 +52950,6 @@ "A urticaria with a basis in a pathological type I hypersensitivity reaction." "SCTID:40178009 UMLS:C0149526 MEDGEN:508394 DOID:10612 ICD10CM:L50.0 MONDO:0006526 Wikipedia:Urticaria#Allergic_urticaria ICD9:708.0 MedDRA:10001734" "Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an abiotic (non-living) stimulus." - "A disease caused by hyperplastic process of non-transformed prostatic cells." "HP:0008711 NCIT:C2897 ICD9:600.0 ICD10:N40 DOID:11132 ICD9:600.20 SCTID:266569009 SNOMEDCT:266569009 MeSH:D011470 UMLS:C1704272 MEDGEN:312369 ICD9:600 MONDO:0010811 MedDRA:10004446 MESH:D011470 OMIM:600082 NCIt:C2897 DOID:2883" "The amount of a E3 ubiquitin-protein ligase ZFP91 when measured in blood serum." "OMIM:235830 Orphanet:2158 GARD:2708 UMLS:C0268642 MESH:C538321 MEDGEN:82825" "The amount of a CCN family member 1 when measured in blood." "PMID:37794183" @@ -53357,7 +52959,6 @@ "Any X-linked Mendelian susceptibility to mycobacterial diseases in which the cause of the disease is a mutation in the CYBB gene." "DOID:0112000 OMIM:300645 NANDO:2201279 MESH:C567068 UMLS:C1970859 MEDGEN:370369 Orphanet:319623" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KCNQ4 gene." "OMIM:600101 DOID:0110558 MEDGEN:436997 MESH:C567441 UMLS:C2677637 GARD:18099" "The amount of a CD14 molecule when measured in blood." "PMID:37794183" - "A venous insufficiency that is characterized by aching pain, heaviness, swelling, cramps, itching, or tingling in the affected limb and is a chronic complication of deep venous thrombosis." "ICD9:459.10 MEDGEN:46043 DOID:2364 UMLS:C0032807 SCTID:20427003 ICD9:459.13 MESH:D011186 ICD10CM:I87.0 MeSH:D054070 MONDO:0005928 ICD9:459.11 ICD9:459.1 ICD9:459.12" "An inflammatory process affecting the pericardium." "UMLS:C0031046 MEDGEN:18377 HP:0001701 MONDO:0005904 MedDRA:10034484 SCTID:3238004 icd11.foundation:1296696944 ICD10:I30 Orphanet:58208 MeSH:D010493 NCIT:C34915 MESH:D010493 ICD10:I31 DOID:1787" "Anterior cervical hypertrichosis is a rare form of localized hypertrichosis characterized by hair growth near the laryngeal prominence during childhood." "OMIM:600457 Orphanet:3387 SCTID:717963001 MEDGEN:325346 GARD:8438 UMLS:C1838123 MESH:C538390" @@ -53388,7 +52989,6 @@ "A usually benign glandular tumor composed of oxyphil cells, large cells with small irregular nuclei and dense acidophilic granules due to the presence of abundant MITOCHONDRIA. Oxyphil cells, also known as oncocytes, are found in oncocytomas of the kidney, salivary glands, and endocrine glands. In the thyroid gland, oxyphil cells are known as Hurthle cells and Askanazy cells." "ICDO:8290/0 MedDRA:10048757 DOID:5389 MONDO:0003424 NCIT:C3759 MEDGEN:307150 SNOMEDCT:89439007 MeSH:D018249 UMLS:C1510502" "Carotid-femoral pulse wave velocity (CFPWV) is a heritable measure of aortic stiffness that is strongly associated with increased risk for major cardiovascular disease events." - "A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection." "MeSH:D003048 MESH:D003048 MEDGEN:3138 NCIT:C34493 ICD9:007.2 MedDRA:10009827 MONDO:0005707 DOID:2113 SCTID:62005008 UMLS:C0009187" "The age of a person's mother at which mother's death occurred." "Presumptive structure of the blastula that will develop into endoderm." "AAO:0000471 ZFA:0000416 EFO:0003437 TAO:0000416" @@ -53397,7 +52997,7 @@ "A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue." "MONDO:0005554 UMLS:C0009326 MESH:D012216 NCIT:C27204 MEDGEN:3157 NANDO:2100151 ICD9:729.0 NANDO:2100152 SNOMEDCT:396332003 Wikipedia:Rheumatism SCTID:396332003 DOID:1575" "Familial hypercholesterolemia is is an autosomal dominant disorder characterized by elevation of serum cholesterol bound to low density lipoprotein (OMIM)" "OMIM:143890 SNOMEDCT:398036000 UMLS:C0020445 NANDO:2200602 MedDRA:10054380 MEDGEN:5688 MONDO:0005439 OMIM:144010 SCTID:190773008 NCIT:C34704 MeSH:D006938 DOID:13810 OMIM:603776 OMIMPS:143890 ICD9:V19.8" "A sulfur-containing amino acid consisting of a glycine core with a 2-mercaptoethyl side-chain." "Wikipedia:Homocysteine PMID:16596805 HMDB:HMDB0000742 MeSH:D006710 NCIt:C105949 SNOMEDCT:102747008 PMID:18370634 PMID:11133260 KEGG:C05330 KEGG COMPOUND:C05330" - "A fatty acid anion 10:0 that is the conjugate base of decanoic acid." "Reaxys:3538146 MetaCyc:CPD-3617 KEGG:C01571 Gmelin:330643 Beilstein:3538146" + "A fatty acid anion 10:0 that is the conjugate base of decanoic acid." "Reaxys:3538146 MetaCyc:CPD-3617 KEGG:C01571 Gmelin:330643" "A mucoepidermoid carcinoma that involves the zone of skin." "MEDGEN:91072 SCTID:254713002 NCIT:C4472 UMLS:C0346019 DOID:4683" "The surgical removal of an ovary or ovaries." "Quantification of the amount of complement factor H-related proteins in a sample." "PMID:34260947" @@ -53435,7 +53035,6 @@ "Quantification of tubulin-specific chaperone A in a sample." "PMID:29875488" "Bologna is an Arabidopsis ecotype." "Quantification of the amount of 1-stearoyl-2-docosahexaenoyl-GPE (18:0/22:6) in a sample." "PMID:35347128" - "A condition characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. This syndrome was first described in 1980 by Read and associates. Subtypes include COLLAGENOUS COLITIS and LYMPHOCYTIC COLITIS. Both have similar clinical symptoms and are distinguishable only by histology." "MeSH:D046728 DOID:60182 Orphanet:58220 MedDRA:10056979 UMLS:C0400821 SCTID:235753003 SNOMEDCT:235753003 icd11.foundation:1122828822 MONDO:0000702 NCIT:C38504 DOID:0060182 NCIt:C38504 MEDGEN:98005 ICD9:558.9 ORDO:Orphanet_58220 MESH:D046728" "Quantification of the amount of X-10810 in a sample." "PMID:24816252" "Quantification of some aspect of thigh muscle volume." "Sezary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sezary cells)." "DOID:8541 ICD9:202.2 EFO:1000785 Orphanet:3162 GARD:7629 MEDGEN:19959 NCIT:C3366 MedDRA:10040500 GARD:0007629 MedDRA:10040493 ICD10:C84.1 UMLS:C0036920 SCTID:118611004 NORD:1707 MONDO:0017844 ICDO:9701/3 icd11.foundation:1358020385 ONCOTREE:SS MESH:D012751 ICD10:C84.10" @@ -53489,11 +53088,10 @@ "A protocol for single nucleus methylcytosine sequencing. snmC-seq2 provides improved read mapping, reduced artifactual reads, enhanced throughput, as well as increased library complexity and coverage uniformity compared to snmC-seq." "The amount of a serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform when measured in blood serum." "SNOMEDCT:4983002" - "An anxiety disorder characterized by an intense, irrational fear of one or more social or performance situations in which the individual believes that he or she will be scrutinized by others. Exposure to social situations immediately provokes an anxiety response. In adults, the social phobia is recognized as excessive or unreasonable." "NCIT:C34927 DOID:11257 MESH:D000072861 MEDGEN:19254 NCIt:C34927 MONDO:0001247 Wikipedia:Social_anxiety_disorder ICD9:300.23 UMLS:C0031572 UMLS:C34927 SCTID:25501002 MeSH:D000072861 MedDRA:10041242" + "An anxiety disorder characterized by an intense, irrational fear of one or more social or performance situations in which the individual believes that he or she will be scrutinized by others. Exposure to social situations immediately provokes an anxiety response. In adults, the social phobia is recognized as excessive or unreasonable." "NCIT:C34927 DOID:11257 MEDGEN:19254 MESH:D000072861 NCIt:C34927 MONDO:0001247 Wikipedia:Social_anxiety_disorder ICD9:300.23 UMLS:C0031572 UMLS:C34927 SCTID:25501002 MeSH:D000072861 MedDRA:10041242" "An aggressive malignant smooth muscle neoplasm, arising from the central nervous system. It is characterized by a proliferation of neoplastic spindle cells." "UMLS:C1334385 NCIT:C6999 DOID:5254 MEDGEN:235254" "Quantification of integral membrane protein DGCR2/IDD in a sample." "PMID:29875488" "The determination of the amount of a disintegrin and metalloproteinase with thrombospondin motifs 15 in a sample" "PMID:28240269" - "morphological and functional abnormalities of the venous system of long duration manifested either by symptoms and/or signs indicating the need for investigation and/or care" "PMID:28374850 MEDGEN:727071 DOID:0050853 MONDO:0000492 UMLS:C1306557 MedDRA:10066682" "A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45)" "MedDRA:10033558 MEDGEN:854494 UMLS:C3887651 MONDO:0006496 Wikipedia:Palsy ICD10CM:G80-G83 MESH:D010243" "Any abnormal sound(s) of the chest." "ICD9:786.7 SYMP:0000587 MedDRA:10000120 SNOMEDCT:72471000119101" @@ -53704,7 +53302,7 @@ "The amount of a phosphatidylcholine O-16:0_20:4 when measured in blood serum." "Thumb stiffness-brachydactyly-intellectual disability syndrome is characterized by intellectual deficit, mild dysmorphism, type A brachydactylia, signs of obesity and ankylosis of both thumbs. It has been reported in several females from one family (a girl and her mother, her grandmother and probably also her sister and her great-aunt), as well as in an isolated case." "Orphanet:1078 MEDGEN:396073 GARD:4375 UMLS:C1861166 OMIM:188201" "The presence of an increased mass of red blood cells in the circulation." "UMLS:C1853288" - "A simplest member of the class of isoflavones that is 4H-chromen-4-one in which the hydrogen at position 3 is replaced by a phenyl group." "Beilstein:157731 Reaxys:157731 KEGG:C00799 LIPID_MAPS_instance:LMPK12050000 CAS:574-12-9 Gmelin:1224833" + "A simplest member of the class of isoflavones that is 4H-chromen-4-one in which the hydrogen at position 3 is replaced by a phenyl group." "Reaxys:157731 KEGG:C00799 LIPID_MAPS_instance:LMPK12050000 CAS:574-12-9 Gmelin:1224833" "Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported." "GARD:17016 MEDGEN:332176 MESH:C563735 OMIM:609325 Orphanet:166032 ICD10CM:Q77.3 UMLS:C1836307" "Transformation of chronic lymphocytic leukemia into aggressive non-Hodgkin's lymphoma, usually diffuse large B-cell lymphoma (immunoblastic or centroblastic variant). Occasional cases of transformation to Hodgkin's lymphoma have also been described, particularly in patients treated with purine nucleotide analogs. Molecular genetic studies suggest that in approximately half of the cases, the lymphoma is clonally related to the underlying chronic lymphocytic leukemia, whereas in the remaining cases the lymphoma probably represents a secondary, unrelated neoplasm." "DOID:1703 MEDGEN:91159 icd11.foundation:1736108343 SCTID:277550009 NCIT:C35424 GARD:7578 UMLS:C0349631" "MA:0001067" @@ -53722,7 +53320,7 @@ "The result of a measurement of circulating antibodies specific to a blautia antigen." "PMID:37164013" "A primary bacterial infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Legionella pneumophila, which is transmitted_by inhalation of droplets containing bacteria. The symptoms include dry cough, fever, headache and diarrhea." "MEDGEN:7292 SCTID:26726000 MedDRA:10035718 GARD:22419 NCIT:C128334 MONDO:0005823 Orphanet:600832 MESH:D007876 DOID:10458 MeSH:D007876 UMLS:C0023240 icd11.foundation:390042715 Orphanet:549 icd11.foundation:424434722 MedDRA:10061266" - "An aromatic hydrocarbon comprising two fused benzene rings. It occurs in the essential oils of numerous plant species e.g. magnolia." "UM-BBD_compID:c0333 KEGG:C00829 Wikipedia:Naphthalene PMID:17850896 PMID:26875834 Beilstein:1421310 PMID:27439360 HMDB:HMDB0029751 PPDB:1312 Gmelin:3347 PMID:10814889 PMID:11202734 PMID:16699520 CAS:91-20-3 PDBeChem:NPY MetaCyc:NAPHTHALENE Reaxys:1421310 KNApSAcK:C00001259 PMID:26895256 PMID:16220979" + "An aromatic hydrocarbon comprising two fused benzene rings. It occurs in the essential oils of numerous plant species e.g. magnolia." "UM-BBD_compID:c0333 KEGG:C00829 Wikipedia:Naphthalene PMID:17850896 PMID:26875834 PMID:27439360 HMDB:HMDB0029751 PPDB:1312 Gmelin:3347 PMID:10814889 PMID:11202734 PMID:16699520 CAS:91-20-3 PDBeChem:NPY MetaCyc:NAPHTHALENE Reaxys:1421310 KNApSAcK:C00001259 PMID:26895256 PMID:16220979" "Quantification of rho guanine nucleotide exchange factor 1 in a sample." "PMID:29875488" "MA:0000154 EV:0100156" @@ -53757,7 +53355,6 @@ "Juvenile Huntington disease (JHD) is a form of Huntington disease (HD), characterized by onset of signs and symptoms before 20 years of age." "Orphanet:248111 UMLS:C0751208 GARD:10510 MEDGEN:155518 NCIT:C147072 SCTID:230299004" "Orphanet:307773" "A spindle cell melanoma that involves the ciliary body." "NCIT:C6117 MEDGEN:232367 UMLS:C1333052 DOID:6043" - "A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting five or more separate joints during the first six months of disease, with positive serologic testing for rheumatoid factor. [ NCIt:C119034 ]" "NANDO:2201058 UMLS:C3890733 MEDGEN:855737 Orphanet:85435 MONDO:0019435 GARD:19064 NCIT:C119034" "Quantification of free cholesterol to total lipids in small LDL." "An acquired blood vessel disorder caused by severe deficiency of vitamin C (ASCORBIC ACID) in the diet leading to defective collagen formation in small blood vessels. Scurvy is characterized by bleeding in any tissue, weakness, ANEMIA, spongy gums, and a brawny induration of the muscles of the calves and legs." "MedDRA:10039768 MEDGEN:20684 icd11.foundation:708602629 DOID:13724 DOID:13577 ICD10CM:E54 MESH:D001206 MeSH:D012614 OMIM:240400 NCIt:C35010 MESH:D012614 MONDO:0009412 UMLS:C0036474 SCTID:76169001 NCIT:C35010 ICD9:267 MedDRA:10047623" "The type of DIAPHRAGMATIC HERNIA caused by TRAUMA or injury, usually to the ABDOMEN." "MeSH:D006549 NCIt:C34688 MedDRA:10044521 SNOMEDCT:236059003" @@ -54051,7 +53648,6 @@ "The amount of a DNA repair protein RAD51 homolog 3 when measured in blood serum." "quantification of weight/height relationships below a certain threshold that classes an individual as underweight. This threshold may vary based on an individual's ethnicity but is commonly considered in European populations to correspond to a BMI < 18" - "calcification of the aortic valve" "SCTID:250978003 MedDRA:10050559 UMLS:C0428791 MONDO:0005463 MEDGEN:140899 SNOMEDCT:250978003 HP:0004380" "A developmental process in which a progressive change in the state of some part of an organism, germline or somatic, specifically contributes to its ability to form offspring." @@ -54100,7 +53696,7 @@ "Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes." "Orphanet:2573 MESH:D009072 NANDO:2200850 icd11.foundation:1746892088 OMIMPS:252350 icd11.foundation:369231682 NCIT:C84895 GARD:7064 NORD:1457 NANDO:2100228 DOID:13099 MEDGEN:7726 ICD9:437.5 NANDO:1200183 MedDRA:10028047 SCTID:89142007 UMLS:C0026654" "SNOMEDCT:243522003" - "A hydroxy seco-steroid that is (5Z,7E)-9,10-secocholesta-5,7,10(19)-triene in which the pro-S hydrogen at position 3 has been replaced by a hydroxy group. It is the inactive form of vitamin D3, being hydroxylated in the liver to calcidiol (25-hydroxyvitamin D3), which is then further hydroxylated in the kidney to give calcitriol (1,25-dihydroxyvitamin D3), the active hormone." "SNOMEDCT:18414002 PMID:16886665 PPDB:160 PMID:11493580 PMID:15214747 LIPID_MAPS_instance:LMST03020001 Drug_Central:2840 NCIt:C48194 KEGG:D00188 PMID:184223 PMID:2838261 HMDB:HMDB0000876 PMID:10347174 PMID:19817701 PMID:6265326 PMID:23964472 PMID:9627702 PMID:24304198 PMID:17156784 KEGG:C05443 Beilstein:2339331 PDBeChem:VD3 PMID:2997282 Reaxys:2339331 PMID:3494111 MeSH:D002762 PMID:12174089 PMID:12955389 DrugBank:DB00169 Gmelin:1267613 PMID:15876428 CAS:67-97-0 Wikipedia:Cholecalciferol LIPID_MAPS_instance:LMST03020000" + "A hydroxy seco-steroid that is (5Z,7E)-9,10-secocholesta-5,7,10(19)-triene in which the pro-S hydrogen at position 3 has been replaced by a hydroxy group. It is the inactive form of vitamin D3, being hydroxylated in the liver to calcidiol (25-hydroxyvitamin D3), which is then further hydroxylated in the kidney to give calcitriol (1,25-dihydroxyvitamin D3), the active hormone." "SNOMEDCT:18414002 PMID:16886665 PPDB:160 PMID:11493580 PMID:15214747 LIPID_MAPS_instance:LMST03020001 Drug_Central:2840 NCIt:C48194 KEGG:D00188 PMID:184223 PMID:2838261 HMDB:HMDB0000876 PMID:10347174 PMID:19817701 PMID:6265326 PMID:23964472 PMID:9627702 PMID:24304198 PMID:17156784 KEGG:C05443 PDBeChem:VD3 PMID:2997282 Reaxys:2339331 PMID:3494111 MeSH:D002762 PMID:12174089 PMID:12955389 DrugBank:DB00169 Gmelin:1267613 PMID:15876428 CAS:67-97-0 Wikipedia:Cholecalciferol LIPID_MAPS_instance:LMST03020000" "An infection of cattle caused by MYCOBACTERIUM BOVIS. It is transmissible to man and other animals." "MeSH:D014380 DOID:411" "Quantification of vacuolar protein sorting-associated protein 4A in a sample." "PMID:29875488" "Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis is an extremely rare congenital limb malformation syndrome, described in only 3 patients to date, and characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991." "SCTID:733118006 OMIM:207620 MESH:C535881 UMLS:C1859754 MEDGEN:347225 Orphanet:1112 GARD:3051" @@ -54114,7 +53710,7 @@ "An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration." "UMLS:C4023042 UMLS:C4020732" "The amount of a eukaryotic-type N-acetylglucosamine-6-phosphate deacetylase when measured in blood." "PMID:37794183" - "A rare uveal melanoma that arises from the ciliary body. Patients may present with blurred vision, visual field loss, floaters, and ocular pain. The prognosis is usually poor." "SCTID:255015006 UMLS:C0346379 DOID:6524 ICD9:190.8 MEDGEN:138062 NCIT:C4558" + "A rare uveal melanoma that arises from the ciliary body. Patients may present with blurred vision, visual field loss, floaters, and ocular pain. The prognosis is usually poor." "UMLS:C0346379 DOID:6524 ICD9:190.8 MEDGEN:138062 NCIT:C4558 SCTID:255015006" "The amount of a bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase when measured in blood serum." "OBSOLETE. A COVID-19 infection where individuals have respiratory frequency >30 breaths per minute, SpO2 ≤93% on room air at sea level, ratio of arterial partial pressure of oxygen to fraction of inspired oxygen (PaO2/FiO2) <300, or lung infiltrates >50%." "DOID:0081013" "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." "Orphanet:90153 SCTID:109419009 icd11.foundation:1756335062 MESH:C535705 DOID:0081128 NCIT:C123417 OMIM:248370 MEDGEN:1757618 GARD:3374 UMLS:C5399785" @@ -54235,7 +53831,6 @@ "The chemical reactions and pathways involving organic acids, any acidic compound containing carbon in covalent linkage." "Cell line from olfactory neurosphere cells from a 66-year-old human female." "https://www.encodeproject.org/documents/ca3a16d0-3a6b-4b1c-8bf2-fc470ae0f9d8/@@download/attachment/Olfneurosphere_Crawford_protocol.pdf PMID:26438696" "Acrofacialdysostosis, Catania type is a very rare type of acrofacialdysostosis characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males." "UMLS:C2931762 MEDGEN:419487 MESH:C538182 OMIM:101805 Orphanet:1786 GARD:494 SCTID:720419000 icd11.foundation:750680130 DOID:0060384" - "Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually GAMMA-GLOBULINS. This syndrome often occurs on the legs of women aged 20 to 40 years." "SNOMEDCT:402852007 SCTID:402852007 MONDO:0006792 DOID:3325 MEDGEN:19585 MeSH:D011694 MESH:D011694 UMLS:C0034151" "The amount of a FAS-associated death domain protein when measured in blood." "PMID:37794183" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the AGK gene." "MEDGEN:766408 DOID:0110245 OMIM:614691 UMLS:C3553494" "derived from Swiss3T3 fibroblasts" @@ -54244,6 +53839,7 @@ "A calculated measurement of heart wall geometry. It represents a measure of the wall thickness normalized to the size of the chamber lumen." "http://purl.obolibrary.org/obo/CMO_0000992 PMID:29403010" "Quantification of the amount of X-25957 in a sample." "PMID:35347128" "SNOMEDCT:433742005" + "A spectrophotometer is an instrument that measures the intensity of light as a function of the color, or more specifically, the wavelength of light, transmitted by a substance."@en "MO:716 NCIt:C62333" "A spectrophotometer is an instrument that measures the intensity of light as a function of the color, or more specifically, the wavelength of light, transmitted by a substance." "MO:716 NCIt:C62333" "An invasive adenocarcinoma of the colon characterized by the presence of malignant glandular epithelial cells which contain prominent intracytoplasmic mucin (signet ring cells). The signet ring cells constitute more than 50% of the malignant cells." "NCIT:C7967 UMLS:C1707436 DOID:3033 MEDGEN:313039" "The amount of a protein transport protein Sec31A when measured in blood." "PMID:37794183" @@ -54316,7 +53912,7 @@ "Quantification of amyloid beta A4 precursor protein-binding family B member 2 in a sample." "PMID:29875488" "The amount of a importin subunit alpha-5 when measured in blood serum." - "An ortho- and peri-fused polycyclic arene consisting of five fused benzene rings." "PMID:26530167 LINCS:LSM-2198 PMID:11932001 Gmelin:262573 Beilstein:1911333 PMID:7561049 CAS:50-32-8 PMID:7721048 PMID:26703252 PMID:16381670 KEGG:C07535 Wikipedia:Benzo(a)pyrene Reaxys:1911333 PMID:16256111 PMID:1844333" + "An ortho- and peri-fused polycyclic arene consisting of five fused benzene rings." "PMID:26530167 LINCS:LSM-2198 PMID:11932001 Gmelin:262573 PMID:7561049 CAS:50-32-8 PMID:7721048 PMID:26703252 PMID:16381670 KEGG:C07535 Wikipedia:Benzo(a)pyrene Reaxys:1911333 PMID:16256111 PMID:1844333" "A condition in which there is constriction in the tip of the foreskin resulting in inability to fully retract the foreskin over the glans penis. Causes include balanoposthitis, balanitis xerotica obliterans, and untreated diabetes." "ICD10CM:N47.1 MedDRA:10034878 MONDO:0006904 MeSH:D010688 NCIT:C26852 MESH:D010688 SCTID:449826002 DOID:2712 icd11.foundation:184957512 NCIt:C26852 MEDGEN:87496 UMLS:C0345326 SNOMEDCT:449826002 ICD10:N47" "Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." "UMLS:C5679676 icd11.foundation:1458081087 MEDGEN:1825969 Orphanet:262056 NCIT:C36408 GARD:3765" "Orphanet:209902 GARD:20441 UMLS:C4751204 MEDGEN:1653798" @@ -54353,7 +53949,6 @@ "The determination of the amount of CD97 antigen in a sample" "PMID:28240269" "The amount of a lithostathine-1-beta when measured in blood." "PMID:37794183" "The amount of a cullin-3 when measured in blood serum." - "Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. In some cases, pyruvate kinase deficiency has been demonstrated; in other cases, glucose-6-phosphate dehydrogenase deficiency has been demonstrated." "DOID:2861 UMLS:C0002882 SCTID:301317008 ICD9:282.3 MONDO:0006506 MESH:D000746 MEDGEN:284" "Orphanet:209224" @@ -54394,7 +53989,6 @@ "Quantification of the amount of 3-ethylcatechol sulfate (1) in a sample." "PMID:35347128" "A WHO grade II morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells." "NCIt:C4722" "A loess transformation is a data transformation that takes as input a collection of real number pairs (x, y) and, after performing (one or more) loess fittings, utilizes the resulting curves to transform each (x, y) in the input into (x, y-f(x)) where f(x) is one of the fitted curves."@en - "A loess transformation is a data transformation that takes as input a collection of real number pairs (x, y) and, after performing (one or more) loess fittings, utilizes the resulting curves to transform each (x, y) in the input into (x, y-f(x)) where f(x) is one of the fitted curves." "Obsolete. Use PO:0000293 from Plant Ontology instead. One of a pair of cells flanking the stomatal pore and causing the opening and closing of the pore by changes in turgor." "Quantification of the amount of X-21733 in a sample." "PMID:35347128" "The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" "MO:792" @@ -54444,7 +54038,6 @@ "Quantification of the amount of N6-Succinyl adenosine in a sample." "PMID:33634981" "Quantification of the amount of 3-hydroxyhexanoylcarnitine (1) in a sample." "PMID:35347128" - "A viral infectious disease that results_in necrosis located_in intercostal muscle, has_material_basis_in Human enterovirus B. The infection has_symptom severe chest pain, has_symptom fever, has_symptom malaise, has_symptom pleuritis, and has_symptom headache." "SCTID:83264000 MeSH:D011000 MONDO:0005751 ICD10CM:B33.0 DOID:10882 MedDRA:10014978 MESH:D011000 MEDGEN:19355 ICD9:074.1 UMLS:C0032238" "A malignant neoplasm involving the trachea" "SCTID:363432004 NCIT:C9346 ICD10CM:C33 MEDGEN:102274 UMLS:C0153489 ICD9:162.0 DOID:11920" "A benign, encapsulated tumor, arising from the follicular cells of the thyroid gland. It may be associated with thyroid hormone secretion but it does not have malignant characteristics." "UMLS:C0205647 SCTID:255034006 ICDO:8330/0 DOID:2891 EFO:0000499 SCTID:255033000 NCIT:C3502 DOID:6204 MONDO:0005032 HP:0000854" @@ -54536,7 +54129,6 @@ "A DIVERTICULUM at the upper end of the ESOPHAGUS through the cricopharyngeal muscle at the junction of the PHARYNX and the esophagus." "MedDRA:10057019 SNOMEDCT:399291005 MeSH:D016672" "UMLS:C0343108 ICD10:Q87.8 MeSH:C537066 OMIM:136300" "Dukes' Type C, Colorectal Adenocarcinoma cell line. ATCC catalog number CCL-221" "CLO:0002785 RRID:CVCL_0248 BTO:0000391" - "Inflammation of the epicondyles." "MEDGEN:4090 MONDO:0001875 SCTID:202855006 DOID:14087 MESH:D013716 UMLS:C0014488 ICD9:726.32 ICD10CM:M77.1 NCIT:C34589 MedDRA:10014971 MedDRA:10018503" "The sensory system subserving the sense of vision." "http://uri.neuinfo.org/nif/nifstd/FMAID_7191 BILA:0000140 UMLS:C0587900 TAO:0001127 NCIT:C12888 MA:0002444 SCTID:281831001 FMA:7191 ZFA:0001127 AAO:0000632 XAO:0003198 Wikipedia:Visual_system EMAPA:36003" "Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterized by neuropathological lesions principally involving the brainstem, thalamus and putamen." "UMLS:C2675556 SCTID:723359002 Orphanet:88619 GARD:13232 MEDGEN:382634 OMIM:608033" "Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts." "NORD:896 GARD:6002 MONDO:0010913 MeSH:D016767 MEDGEN:57924 Orphanet:53035 NCIT:C84619 UMLS:C0162510 DOID:0050876 NANDO:2200934 SCTID:717232005 MESH:D016767 MedDRA:10013003 icd11.foundation:1757434239 OMIM:600643 NCIt:C84619" @@ -54589,7 +54181,6 @@ "A malignant neoplasm involving the sensory system" "DOID:0060116" "The amount of a Kita-kyushu lung cancer antigen 1 when measured in blood serum." - "A Simplexvirus infectious disease that results_in inflammation located_in cornea of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom photophobia, has_symptom blurred vision, has_symptom tearing, has_symptom pain, and has_symptom redness." "NCIT:C34743 MeSH:D016849 MONDO:0015288 Orphanet:137586 ICD10EXP:B00.5+ MEDGEN:5534 DOID:0080158 UMLS:C0019357 ICD10EXP:H19.1* SCTID:9389005" "A circulatory system process carried out by the heart. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood." "A disease that has its basis in the disruption of heart development." "OMIM:306955 MONDO:0019512 UMLS:C3649636 Orphanet:88991 OMIM:614980 ICD10:Q24 MEDGEN:1680993 ICD10:Q20" "The percentage of subjects in a study who have survived without cancer spread for a defined period of time. Usually reported as time since diagnosis or treatment. Can be reported for an individual or a study population." @@ -54622,7 +54213,6 @@ "A sarcoma that arises from the testis. The majority of cases arise from teratomas or spermatocytic seminomas." "MEDGEN:234943 DOID:4062 UMLS:C1336727 NCIT:C6359" - "The role of a person or organisation in supplying materials such as animal subjects, reagents or other materials used in an investigation." "Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA)) corresponds to the appearance of BWS in elderly patients." "SCTID:702410002 Orphanet:2995 GARD:5279 DOID:0060229 ICD9:759.89 OMIMPS:243310 MEDGEN:340016 UMLS:C1853623" "The amount of a TPT1-like protein (human) when measured in blood serum." @@ -54652,7 +54242,7 @@ "Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." "OMIM:148210 OMIM:602540 OMIM:242150 MedDRA:10048786 ICD10:Q80.8" "An iron nutrient regimen (EO:0007242) involving exposure to limiting amounts or the absence of iron (CHEBI:18248)." "A cerebrovascular disorder characterized by an abnormal narrowing of a cerebral artery." "UMLS:C1504438 MEDGEN:760198" - "A compound composed of a central piperidine structure with hydroxy and p-chlorophenyl substituents at position 4 and an N-linked p-fluorobutyrophenone moiety." "NCIt:C537 MeSH:D006220 DrugBank:DB00502 Patent:BE577977 SNOMEDCT:386837002 Patent:GB895309 Patent:US3438991 LINCS:LSM-3512 Beilstein:331267 Drug_Central:1353 SNOMEDCT:10756001 Reaxys:331267 Wikipedia:Haloperidol KEGG:C01814 PMID:6725621 PMID:25007358 PMID:7602118 KEGG:D00136 PMID:10628896 PMID:11304647 CAS:52-86-8" + "A compound composed of a central piperidine structure with hydroxy and p-chlorophenyl substituents at position 4 and an N-linked p-fluorobutyrophenone moiety." "NCIt:C537 MeSH:D006220 DrugBank:DB00502 Patent:BE577977 SNOMEDCT:386837002 Patent:GB895309 Patent:US3438991 LINCS:LSM-3512 Drug_Central:1353 SNOMEDCT:10756001 Reaxys:331267 Wikipedia:Haloperidol KEGG:C01814 PMID:6725621 PMID:25007358 PMID:7602118 KEGG:D00136 PMID:10628896 PMID:11304647 CAS:52-86-8" "The determination of the amount of diablo homolog, mitochondrial in a sample" "PMID:28240269" "Abnormal secretion of hormones in conjunction with neoplastic growth occurring anywhere in the body." "NCIT:C4065 MEDGEN:208863 UMLS:C0851689" "ICD10:Q87.8" @@ -54836,7 +54426,7 @@ "The amount of a zinc finger protein 696 when measured in blood serum." "The amount of a endoplasmic reticulum transmembrane helix translocase when measured in blood serum." "Glomuvenous malformations (GVMs) are hereditary vascular malformations characterized by the presence of small, multifocal bluish-purple venous lesions involving the skin." "NCIT:C5350 MEDGEN:374834 OMIM:138000 GARD:16728 MedDRA:10018381 Orphanet:83454 UMLS:C1841984 SCTID:715644000 icd11.foundation:2095305475 DOID:7996 MESH:C536827" - "An alpha-amino acid that is adipic acid bearing a single amino substituent at position 2. An intermediate in the formation of lysine." "PMID:6462455 Wikipedia:Alpha-Aminoadipic_acid PMID:22264337 PMID:31148 Beilstein:1773077 Reaxys:1724349 Beilstein:1724349 HMDB:HMDB0000510 CAS:542-32-5" + "An alpha-amino acid that is adipic acid bearing a single amino substituent at position 2. An intermediate in the formation of lysine." "PMID:6462455 Wikipedia:Alpha-Aminoadipic_acid PMID:22264337 PMID:31148 Beilstein:1773077 Reaxys:1724349 HMDB:HMDB0000510 CAS:542-32-5" "A trait that affects the response to a stimulus with citalopram." "UMLS:C0272052 OMIM:268150 OMIM:617970 ICD10:D58.8" @@ -54880,7 +54470,6 @@ "A cell line derived from human acute myeloid leukemia." "A malignant neoplasm involving the jejunum." "MedDRA:10023166 ICD9:152.1 DOID:13499 MONDO:0006815 UMLS:C0153427 EFO:1000998 ICD10:C17.1 SCTID:363404008 MEDGEN:56302" "Orphanet:98567" - "A bone structure disease that has_material_basis_in displacement located_in set of vertebrae." "MONDO:0008475 HP:0003302 OMIM:184200 MeSH:D013168 NCIT:C35033 MESH:D013168 MedDRA:10041675 icd11.foundation:1075039772 MEDGEN:52470 MedDRA:10063550 SCTID:274152003 DOID:6682 UMLS:C0038016" "The amount of a pantetheine hydrolase VNN2 when measured in blood serum." @@ -55023,7 +54612,7 @@ "The amount of a serine/threonine-protein phosphatase PP1-gamma catalytic subunit when measured in blood serum." "The lipid bilayer surrounding a vesicle transporting substances from the endoplasmic reticulum to the Golgi." - "The S-oxide derivative of methionine. It is a biomarker of oxidative stress." "DrugBank:DB02235 Beilstein:2206690 MetaCyc:CPD0-1959 HMDB:HMDB0002005 PMID:24776987 PMID:12576054 CAS:62697-73-8 Reaxys:2206690" + "The S-oxide derivative of methionine. It is a biomarker of oxidative stress." "DrugBank:DB02235 MetaCyc:CPD0-1959 HMDB:HMDB0002005 PMID:24776987 PMID:12576054 CAS:62697-73-8 Reaxys:2206690" "Urolithiasis in which the composition of the stones is predominantly calcium oxalate." "UMLS:C1833683 NCIt:C123242" "A spondyloepimetaphyseal dysplasia characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence." "GARD:16813 Orphanet:93282 OMIM:612847 SCTID:719172003 MEDGEN:411234 UMLS:C2748515 DOID:0050812" "An inherited diseases haracterized by the development of adenomas in the rectum and colon; classified into classic FAP and attenuated FAP." @@ -55032,7 +54621,7 @@ "The amount of a kinesin light chain 3 when measured in blood serum." "Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina." "DOID:9821 Orphanet:180 OMIM:303100 ICD10CM:H31.21 ICD9:363.55 SCTID:75241009 UMLS:C0008525 MedDRA:10008791 NCIT:C34469 NORD:932 GARD:6061 icd11.foundation:217923263 MEDGEN:944 MESH:D015794" - "Neoplasms of the endometrial stroma that sometimes involve the MYOMETRIUM. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (SARCOMA, ENDOMETRIAL STROMAL)." "MEDGEN:87280 MONDO:0003311 SNOMEDCT:68738004 DOID:5166 MeSH:D036821 MESH:D036821 ICD9:239.5 UMLS:C0334695 SCTID:446887007" + "Neoplasms of the endometrial stroma that sometimes involve the MYOMETRIUM. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (SARCOMA, ENDOMETRIAL STROMAL)." "MEDGEN:87280 SNOMEDCT:68738004 MONDO:0003311 DOID:5166 MeSH:D036821 MESH:D036821 ICD9:239.5 UMLS:C0334695 SCTID:446887007" "Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form." "SNOMEDCT_US:85775002 UMLS:C0085400" "Quantification of lipase member N in a sample." "PMID:29875488" @@ -55119,7 +54708,6 @@ "Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy." "GARD:4069 MEDGEN:342472 OMIM:258200 icd11.foundation:2072460929 MESH:C564931 Orphanet:2920 SCTID:721017000 UMLS:C1850320" - "Infections with bacteria of the species Yersinia pestis." "UMLS:C0032064 ICD9:020.9 NORD:1583 MedDRA:10035148 MEDGEN:10785 NCIT:C85015 MESH:D015009 MedDRA:10061416 SCTID:58750007 icd11.foundation:1596449540 GARD:18702 ICD10CM:A20 Orphanet:707 MESH:D010930 DOID:3482 MONDO:0019095 ICD9:136.8 ICD9:020" "A phyllome base (PO:0025140) that is part of a leaf (PO:0025034)." "Quantification of ribosyldihydronicotinamide dehydrogenase [quinone] in a sample." "PMID:29875488" @@ -55163,7 +54751,6 @@ "A butyrylcholinesterase measurement is a quanitification of butyrylcholinesterase a non-specific cholinesterase enzyme that hydrolyses many different choline esters. It is found in liver in humans." "NCIt:C111142" "The amount of a serum response factor-binding protein 1 when measured in blood serum." - "Inflammation of renal tissue. [ NCIt:P378 ]" "MedDRA:10029117 MESH:D009393 ICD9:583.7 NCIT:C26833 SCTID:52845002 MONDO:0001166 MEDGEN:14328 ICD9:583.9 UMLS:C0027697 DOID:10952 ICD10:N10 ICD10:N05 ICD9:583.89 ICD10:N12" "Rosselli-Gulienetti syndrome is a type of ectodermal dysplasia characterized by anhidrosis, hypotrichosis, cleft and lip palate, microdontia and syndactyly." "UMLS:C0796139 OMIM:225000" "A trait that affects the response to a stimulus with irinotecan." "The amount of a POTE ankyrin domain family member G when measured in blood serum." @@ -55306,7 +54893,7 @@ "Over-production of pigment in the eyelid." "MedDRA:10020714 MESH:C562400 SCTID:41115008 ICD9:374.52 DOID:10122 MEDGEN:56358 MONDO:0007769 OMIM:145100 UMLS:C0155211" "The amount of a inactive carboxypeptidase-like protein X2 when measured in blood." "PMID:37794183" "SNOMEDCT:319213000 MeSH:D045868" - "A docosenoic acid having a cis- double bond at C-13. It is found particularly in brassicas - it is a major component of mustard and rapeseed oils and is produced by broccoli, Brussels sprouts, kale, and wallflowers." "LIPID_MAPS_instance:LMFA01030089 Wikipedia:Erucic_acid PMID:7847331 Reaxys:1728049 KNApSAcK:C00001217 HMDB:HMDB0002068 MetaCyc:CPD-14292 PMID:1170010 KEGG:C08316 Gmelin:177365 Beilstein:1728049 CAS:112-86-7" + "A docosenoic acid having a cis- double bond at C-13. It is found particularly in brassicas - it is a major component of mustard and rapeseed oils and is produced by broccoli, Brussels sprouts, kale, and wallflowers." "LIPID_MAPS_instance:LMFA01030089 Wikipedia:Erucic_acid PMID:7847331 Reaxys:1728049 KNApSAcK:C00001217 HMDB:HMDB0002068 MetaCyc:CPD-14292 PMID:1170010 KEGG:C08316 Gmelin:177365 CAS:112-86-7" "Orphanet:98549" "A histopathologic term for a pattern of diseases characterized by extensive crescent formation in the glomeruli; patients present clinically with rapid deterioration of renal function, and possible progression to end-stage renal failure within weeks or months." "NANDO:1200714 NCIT:C35444 ICD9:580.4 NANDO:1200723 SCTID:236398000 MEDGEN:96040 HP:0008653 UMLS:C0403416 DOID:13139" "Any member of the class of organooxygen compounds that is a polyhydroxy-aldehyde or -ketone or a lactol resulting from their intramolecular condensation (monosaccharides); substances derived from these by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom; and polymeric products arising by intermolecular acetal formation between two or more such molecules (disaccharides, polysaccharides and oligosaccharides). Carbohydrates contain only carbon, hydrogen and oxygen atoms; prior to any oxidation or reduction, most have the empirical formula Cm(H2O)n. Compounds obtained from carbohydrates by substitution, etc., are known as carbohydrate derivatives and may contain other elements. Cyclitols are generally not regarded as carbohydrates." "Wikipedia:Carbohydrate" @@ -55345,7 +54932,6 @@ "Orphanet:98554" "Material anatomical entity that is a single connected structure with inherent 3D shape generated by coordinated expression of the organism's own genome." "CARO:0000003 MA:0003000 AEO:0000003 FMA:67135 http://dbpedia.org/ontology/AnatomicalStructure TAO:0000037 AAO:0010825 HAO:0000003 FMA:305751 ZFA:0000037 SCTID:362889002 EHDAA2:0003003 TGMA:0001823 XAO:0003000 BILA:0000003 VHOG:0001759 MESH:D000825 GAID:781 FBbt:00007001 EMAPA:0" "UMLS:C5830574 MEDGEN:1841210 DOID:0070459 OMIM:620416" - "A complication of gastrojejunostomy (BILLROTH II PROCEDURE), a reconstructive GASTROENTEROSTOMY. It is caused by acute (complete) or chronic (intermittent) obstruction of the afferent jejunal loop due to HERNIA, intussusception, kinking, VOLVULUS, etc. It is characterized by PAIN and VOMITING of BILE-stained fluid." "UMLS:C0001727 MONDO:0006641 MedDRA:10056245 MESH:D000343 MeSH:D000343 MEDGEN:161 SNOMEDCT:20813000 DOID:8438 ICD9:537.89 SCTID:20813000" "The determination of the amount of DNAj homolog subfamily b member 1 in a sample" "PMID:28240269" "Anomaly of the folded ridges (wrinkles) of skin of the scrotum." "UMLS:C4022707" @@ -55405,7 +54991,7 @@ "The amount of a spindlin-1 when measured in blood serum." "An umbrella term for a group of rare genetic skin disorders characterized by well-demarcated plaques of reddened, dry and thickened skin. Typically, these lesions are distributed symmetrically on the body and tend to slowly expand and progress over time." "MedDRA:10015280 SCTID:254215005 MEDGEN:609461 Orphanet:79355 ICD9:757.39 UMLS:C0432330 GARD:18986" "Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus)." "UMLS:C1866730" - "The inner portion of the adrenal gland that consists mainly of chromaffin cells which produce, store and secrete neurotransmitters such as epinephrine and norepinephrine." "MAT:0000495 MESH:D019439 XAO:0000166 UMLS:C0001629 VHOG:0001378 EMAPA:18428 CALOHA:TS-0018 FMA:15633 NCIT:C12397 AAO:0011010 SCTID:362585001 MA:0000119 Wikipedia:Adrenal_medulla EFO:0000852 GAID:451 BTO:0000049 EV:0100137" + "The inner portion of the adrenal gland that consists mainly of chromaffin cells which produce, store and secrete neurotransmitters such as epinephrine and norepinephrine." "MAT:0000495 MESH:D019439 XAO:0000166 UMLS:C0001629 VHOG:0001378 EMAPA:18428 CALOHA:TS-0018 FMA:15633 AAO:0011010 NCIT:C12397 SCTID:362585001 MA:0000119 Wikipedia:Adrenal_medulla EFO:0000852 GAID:451 BTO:0000049 EV:0100137" "The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility." "icd11.foundation:1122707206 OMIMPS:130000 NORD:1080 MEDGEN:41720 NCIT:C34568 DOID:13359 ICD10CM:Q79.6 SCTID:398114001 Orphanet:98249 NANDO:1200645 NANDO:2200607 GARD:6322 MESH:D004535 ICD9:756.83 MedDRA:10014316 UMLS:C0013720" "A disorder affecting the small intestine. It is caused by the stasis of food and subsequent overgrowth of bacteria in a portion of the small intestine that is unintentionally bypassed as a complication of abdominal surgery or as a sequela of gastrointestinal disorders which impede effective motility. Clinical signs include bloating, abdominal pain, diarrhea and weight loss. If untreated, the clinical course progresses to malabsorption of fats, vitamin B12 and calcium, the latter which predisposes to nephrolithiasis and osteoporosis." "MedDRA:10005166 NCIT:C34431 SCTID:66379009 DOID:10606 ICD9:579.2 MONDO:0005673 icd11.foundation:1719064637 MESH:D001765 MEDGEN:600 MeSH:D001765 UMLS:C0005750" "The subdivision of the vertebrate body between the thorax and pelvis. The ventral part of the abdomen contains the abdominal cavity and visceral organs. The dorsal part includes the abdominal section of the vertebral column." "BTO:0000020 SCTID:302553009 EV:0100011 MAT:0000298 EMAPA:35102 CALOHA:TS-0001 Wikipedia:Abdomen galen:Abdomen MIAA:0000298 EFO:0000968 MESH:D000005 FMA:9577 MA:0000029 GAID:16" @@ -55587,7 +55173,6 @@ "An instance of heart cancer that is caused by a modification of the individual's genome." "Orphanet:271841 UMLS:CN202528" "UMLS:C2748572 OMIM:612780" "Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait." "GARD:10692 NORD:1529 UMLS:C0029294 icd11.foundation:1405407847 ICD9:759.89 MESH:D009958 OMIMPS:311200 Orphanet:140997 DOID:4501 SCTID:52868006 MEDGEN:14518 NANDO:1201051" - "Failure of some or all of an individual's teeth to develop.It occurs most often in the third molar (wisdom tooth)." "OMIM:617275 ICD10:K00 SCTID:16958000 SCTID:64969001 MESH:D000848 icd11.foundation:1559717619 DOID:0050591 Orphanet:99798 Orphanet:2227 GARD:16908 UMLS:C0020608 ICD10CM:K00.0 OMIMPS:106600 MONDO:0005486 ICD9:520.0 MEDGEN:43794" "OBSOLETE. The chemical reactions and pathways involving organic cyclic compound." "The amount of a Phosphatidylcholine (16:0_22:6) when measured in blood serum." @@ -55668,7 +55253,6 @@ "Quantification of the amount of Caffeic acid in a sample." "PMID:33634981" "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 38 carbons in total with 1 double bond." "A regulatory system of the body that consists of neurons and neuroglial cells. The nervous system is divided into two parts, the central nervous system (CNS) and the peripheral nervous system (PNS). (Source: BioGlossary, www.Biology-Text.com)" "FBbt:00005093 XAO:0000177 EMAPA:16469 ZFA:0000396 SAEL:71 EV:0100162 NIFSTD:birnlex_844 MAT:0000026 MA:0000016 AAO:0000324 EHDAA:826 WBbt:0005735 BTO:0001484 FMA:7157 TAO:0000396" - "A specific phobia is any kind of anxiety disorder that amounts to an unreasonable or irrational fear related to exposure to specific objects or situations. As a result, the affected person tends to actively avoid direct contact with the objects or situations and, in severe cases, any mention or depiction of them. The fear can, in fact, be disabling to their daily lives." "NCIT:C35284 UMLS:C0236801 MONDO:0012000 MESH:C562465 DOID:599 icd11.foundation:239513569 ICD9:300.29 OMIM:608251 MEDGEN:65932 Wikipedia:Specific_phobia NCIt:C35284 MedDRA:10041446 SCTID:54587008" "The amount of a tubulin-specific chaperone cofactor E-like protein when measured in blood serum." "The amount of a protein SCO2, mitochondrial when measured in blood serum." "An instance of thrombocytopenia that is acquired during the lifetime of the individual." "SCTID:74576004 UMLS:C0154301 DOID:11126 ICD9:287.4 MEDGEN:509570 icd11.foundation:526155201" @@ -55747,7 +55331,7 @@ "Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in glucose-6-phosphate isomerase; pyruvate kinase; and glucose-6-phosphate dehydrogenase." "DOID:2861 UMLS:C0002882 SCTID:301317008 ICD9:282.3 MONDO:0006506 MESH:D000746 MEDGEN:284" "The amount of a [pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 2, mitochondrial when measured in blood serum." - "A racemate composed of equimolar amounts of (R)- and (S)-mevalonate." "Reaxys:4383181 Beilstein:4383181" + "A racemate composed of equimolar amounts of (R)- and (S)-mevalonate." "Reaxys:4383181" "Quantification of carbohydrate sulfotransferase 9 in a sample." "PMID:29875488" "A parasitic stramenopiles infectious disease that involves infection of the intestine with a pathogenic heterokont Blastocystis hominis. The symptoms include watery diarrhea, abdominal pain, perianal pruritus, and excessive flatulence." "MeSH:D016776 MESH:D016776 MONDO:0005671 SCTID:721809007 DOID:11897" "Orphanet:251633 icd11.foundation:641455939" @@ -55764,7 +55348,6 @@ "Human prostate cancer cell line." "BTO:0005220 RRID:CVCL_9555" "The determination of the amount of seprase in a sample" "PMID:28240269" - "Analyte role is a role borne by a material entity and realized by implementation of an analyte measuring assay with objective to detect the magnitude/concentration/ amount of the analyte in the entity bearing evaluant role." "UMLS:C5190823 MEDGEN:1682367 Orphanet:1121 GARD:18716" "Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology." "MEDGEN:462247 GARD:12454 DOID:0110204 UMLS:C3150897 OMIM:613641 Orphanet:254334" @@ -55826,10 +55409,10 @@ "A melanoma affecting the retinal portion of the eye. --2003" "NCIT:C8601 MEDGEN:163431 UMLS:C0853394 SCTID:423673009 DOID:8427" "Orphanet:3062" "The amount of a cysteine-rich secretory protein LCCL domain-containing 2 when measured in blood serum." - "A morphologic variant of large cell lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with esophnophilic nucleoi, and dense lymphoplasmacytic infiltration." "EFO:1000340 MEDGEN:313374 UMLS:C1708792 NCIT:C45519 MONDO:0006283 ONCOTREE:LECLC" + "A morphologic variant of large cell lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with esophnophilic nucleoi, and dense lymphoplasmacytic infiltration." "MEDGEN:313374 EFO:1000340 UMLS:C1708792 NCIT:C45519 MONDO:0006283 ONCOTREE:LECLC" "The amount of a GPN-loop GTPase 1 when measured in blood serum." - "A cyclic pentapyrrole where the five pyrrole units are joined at their 2- and 5-positions via four methine linkages and one direct 2-5'-linkage." "Reaxys:7662683 Beilstein:7662683 PMID:22070570" + "A cyclic pentapyrrole where the five pyrrole units are joined at their 2- and 5-positions via four methine linkages and one direct 2-5'-linkage." "Reaxys:7662683 PMID:22070570" "quantification of the amount of cation-independent mannose-6-phosphate receptor in a sample" "The treatment where the plants were grown under green house conditions. This may involve supplemental treatments in addition to any standard conditions." @@ -55872,7 +55455,6 @@ "OMIM:612714" "Thrombin is a \"trypsin-like\" serine protease protein that in humans is encoded by the F2 gene.[2][3] Prothrombin (coagulation factor II) is proteolytically cleaved to form thrombin in the coagulation cascade, which ultimately results in the stemming of blood loss. Thrombin in turn acts as a serine protease that converts soluble fibrinogen into insoluble strands of fibrin, as well as catalyzing many other coagulation-related reactions." "MeSH:D013917 DSSTox_Generic_SID:40626 OMIM:176930 SNOMEDCT:415715002 NCIt:C87773 SNOMEDCT:36176003" - "Human chronic myelogenous leukemia cell line" "PMID:3466682 RRID:CVCL_Y019" "Primordium of the posterior spiracle of the larva. Originates in the posterior half of the lateral ectoderm of abdominal segment 8 during stage 12. A group of cells that are more basophilic that those surrounding them form a deep groove and fuse with the posterior arm of the tracheal primordium of A8 (tracheal metamere 10)." "FBbt:00000197" "A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process." "MESH:D008659 NCIt:C3235 MONDO:0005066 DOID:0014667 MEDGEN:44376 SNOMEDCT:75934005 ICD9:277.9 ICD10WHO:E70-E90 SCTID:75934005 ICD10CM:E70-E88 NANDO:1100002 NCIT:C3235 MeSH:D008659 UMLS:C0025517 ICD9:277.8" @@ -55899,7 +55481,6 @@ - "A parasitic protozoa infectious disease involving infection caused by Balantidium coli. The trophozoites are capable of attacking the intestinal epithelium, creating ulcers and causing bloody diarrhea. The infectiou has_symptom cramping, has_symptom abdominal pain, has_symptom nausea and has_symptom foul breath." "MeSH:D001447 ICD10CM:A07.0 DOID:12386 icd11.foundation:2090337975 Orphanet:1223 NCIT:C84583 GARD:809 MEDGEN:2540 MedDRA:10004080 MESH:D001447 SCTID:57725006 NORD:833 ICD9:007.0 MONDO:0005662 UMLS:C0004692" "SCTID:719161008 Orphanet:85279 MESH:C564494 UMLS:C1845243 GARD:16744 MEDGEN:335139 DOID:0060809 OMIM:300534" "GARD:16658 MEDGEN:1677784 SCTID:715565004 MESH:C567502 Orphanet:53696 OMIM:611890 UMLS:C5193016" "quantification of the amount of very low density lipoprotein cholesterol in a sample" @@ -55916,7 +55497,7 @@ "Measurement of remnant cholesterol (remnant lipoprotein), which is an atherogenic lipoprotein composed primarily of very low-density lipoprotein (VLDL) and intermediate-density lipoprotein (IDL)." "http://orcid.org/0000-0001-9043-693X Wikipedia:Remnant_cholesterol" "The stage at which leaves at thirteen nodes, other than the cotyledonary node, are visible above ground." "A large muscle in the back of the lower leg. Its action involves the plantar flexion of the foot." "NCIt:C32666 BTO:0000506" - "A common and naturally occurring pyrimidine nucleobase in which the pyrimidine ring is substituted with two oxo groups at positions 2 and 4. Found in RNA, it base pairs with adenine and replaces thymine during DNA transcription." "MetaCyc:URACIL DrugBank:DB03419 PDBeChem:URA HMDB:HMDB0000300 PMID:22483865 PMID:22356544 KEGG:D00027 PMID:17439666 PMID:22020693 PMID:18533995 KNApSAcK:C00001513 Reaxys:606623 PMID:22074393 PMID:3654008 PMID:18815805 PMID:22567906 PMID:12855717 PMID:22447672 PMID:22299724 PMID:15274295 PMID:19175333 PMID:22237209 PMID:22120518 PMID:22685418 PMID:11279060 Beilstein:606623 PMID:22171528 PMID:16834123 KEGG:C00106 CAS:66-22-8 Gmelin:2896 Wikipedia:Uracil" + "A common and naturally occurring pyrimidine nucleobase in which the pyrimidine ring is substituted with two oxo groups at positions 2 and 4. Found in RNA, it base pairs with adenine and replaces thymine during DNA transcription." "MetaCyc:URACIL DrugBank:DB03419 PDBeChem:URA HMDB:HMDB0000300 PMID:22483865 PMID:22356544 KEGG:D00027 PMID:17439666 PMID:22020693 PMID:18533995 KNApSAcK:C00001513 Reaxys:606623 PMID:22074393 PMID:3654008 PMID:18815805 PMID:22567906 PMID:12855717 PMID:22447672 PMID:22299724 PMID:15274295 PMID:19175333 PMID:22237209 PMID:22120518 PMID:22685418 PMID:11279060 PMID:22171528 PMID:16834123 KEGG:C00106 CAS:66-22-8 Gmelin:2896 Wikipedia:Uracil" "Quantification of the amount of X-13726 in a sample." "PMID:35347128" "The presence of an excessive amount of fluid in the pleural cavity." "UMLS:C0032227 SNOMEDCT_US:60046008" "OMIM:180850 MESH:C535877 UMLS:C2931052 MEDGEN:418972" @@ -55928,7 +55509,7 @@ "Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet." "Orphanet:99657 MEDGEN:346511 OMIM:224500 DOID:0090038 NCIT:C123415 GARD:2028 MESH:C538006 NANDO:1200513 UMLS:C1857093" "ZFA:0000568" - "The amino acid betaine derived from glycine." "KNApSAcK:C00007291 Reaxys:3537113 Gmelin:26434 KEGG:C00719 HMDB:HMDB0000043 PMID:16197300 CAS:107-43-7 Drug_Central:347 PDBeChem:BET Beilstein:3537113 PMID:18326594 KEGG:D07523 YMDB:YMDB01516 PMID:22770225 PMID:20446114 Wikipedia:Trimethylglycine PMID:20642826 PMID:20346934 MetaCyc:BETAINE" + "The amino acid betaine derived from glycine." "KNApSAcK:C00007291 Reaxys:3537113 Gmelin:26434 KEGG:C00719 HMDB:HMDB0000043 PMID:16197300 CAS:107-43-7 Drug_Central:347 PDBeChem:BET PMID:18326594 KEGG:D07523 YMDB:YMDB01516 PMID:22770225 PMID:20446114 Wikipedia:Trimethylglycine PMID:20642826 PMID:20346934 MetaCyc:BETAINE" "a process by which the outer layer (trophoblast) of a blastocyst is selectively destroyed by antiserum and complement, used especially to obtain the embryonic stem cells of the inner cell mass" "PMID:18989406" "A measurement of the antinuclear antibodies (antibodies that attack the body's own tissue) in a biological specimen." "NCIt:C74916" "An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic dyes." "MEDGEN:1748 ICDO:8280/0 MONDO:0006634 MESH:D000239 UMLS:C0001433 NCIT:C6780 DOID:5392 EFO:1000791" @@ -55979,7 +55560,6 @@ "Single-molecule droplet barcoding" "PMID:27353563" "human B-cell lymphoma cell line established from the peritoneal effusion of a patient with lymphoma, described at the time as true histiocytic lymphoma, in 1984 (DSMZ catalog number ACC 561)" "UMLS:C1856929 OMIM:226850 MeSH:C535497 ICD10:G40.8" - "A severe gangrenous process occurring predominantly in debilitated and malnourished children, especially in underdeveloped countries. It typically begins as a small vesicle or ulcer on the gingiva that rapidly becomes necrotic and spreads to produce extensive destruction of the buccal and labial mucosa and tissues of the face, which may result in severe disfigurement and even death. Various bacteria have been implicated in the etiology. (Dorland, 27th ed)" "MedDRA:10029502 GARD:4001 icd11.foundation:340823130 ICD9:528.1 MEDGEN:10366 MONDO:0017124 MESH:D009625 NCIT:C34852 UMLS:C0028271 MeSH:D009625 DOID:9672 SCTID:18116006 Orphanet:2700" "Any recessive immunodeficiency (ID), with or without ectodermal dysplasia (EDA), in which the cause of the disease is mutation in the IKBKG gene. ID/EDA-ID patients, always males, are hemizygous for an IKBKG (NEMO) mutation that preserves residual NF-κB activation (hypomorphic mutations) and may also present with osteopetrosis and lymphoedema (OL-EDA-ID)." "Part of hippocampus proper bounded by CA2 and the subiculum, characterized by pyramidal neurons that receive projections from pyramidal neurons of CA3 via the Schaffer collaterals." "MBA:382 MESH:D056547 FMA:74042 MA:0000950 DHBA:10297 EFO:0002454 DMBA:16131 BAMS:CA1 UMLS:C0694598 neuronames:183 NCIT:C32246 HBA:12892 EMAPA:32768 PBA:10058 BIRNLEX:1197 Wikipedia:Region_I_of_hippocampus_proper" @@ -55991,7 +55571,7 @@ "Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems." "UMLS:C4022738" "An aggressive type of endocrine tumor of the appendix presenting equally in males and females in the fifth decade of life and manifesting with a palpable mass and abdominal pain or acute appendicitis. Metastasis to the ovaries, peritoneum or right colon has usually already occurred in half of patients at the time of diagnosis." "ONCOTREE:GCCAP ICDO:8243/3 Orphanet:329984 GARD:10414 NCIT:C3689 MEDGEN:60007 UMLS:C0205695 NORD:1931" - "A butene with unsaturation at position 1." "Reaxys:1098262 CAS:106-98-9 Wikipedia:1-Butene Gmelin:25205 PMID:24819240 Beilstein:1098262" + "A butene with unsaturation at position 1." "Reaxys:1098262 CAS:106-98-9 Wikipedia:1-Butene Gmelin:25205 PMID:24819240" "A test to determine the ability of an individual to maintain homeostatis of blood glucose. It includes measuring blood glucose levels in a fasting state, and at prescribed intervals before and after oral glucose intake (75 or 100 g) or intravenous infusion (0.5 g/kg)." "MeSH:D005951 NCIt:C45946 MedDRA:10018432 SNOMEDCT:113076002" "Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.intellectual deficit and seizures." "DOID:0050733" @@ -56012,12 +55592,11 @@ "An acute inflammation of the tonsils caused by viruses or bacteria. Signs and symptoms include fever, enlargement of the tonsils, difficulty swallowing, and enlargement of the regional lymph nodes." "MEDGEN:472878 SCTID:17741008 icd11.foundation:260431605 ICD9:463 NCIT:C97142 UMLS:C0001361" "A polyploidy quality inhering in a bearer by virtue of the bearer's containing four homologous sets of chromosomes." "The amount of a glypican-1 when measured in blood serum." - "A hydrogen butenedioate obtained by deprotonation of one of the carboxy groups of fumaric acid." "Gmelin:325290 Beilstein:1906438 Reaxys:1906438" + "A hydrogen butenedioate obtained by deprotonation of one of the carboxy groups of fumaric acid." "Gmelin:325290 Reaxys:1906438" "The amount of a trafficking protein particle complex subunit 13 when measured in blood serum." "The mucous membrane that lines the nasal cavity[MP]." "EMAPA:36026 GAID:302 FMA:59684 Wikipedia:Mucous_membrane_of_nose CALOHA:TS-0657 SCTID:310211009 BTO:0000912" - "A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." "NCIT:C34830 Orphanet:167848 ICD9:425.4 NCIt:C34830 ICD9:425.9 SNOMEDCT:85898001 ICD9:425 MONDO:0004994 DOID:0050700 ICD10:I42 MEDGEN:209232 SCTID:57809008 MedDRA:10007636 MESH:D009202 MeSH:D009202 UMLS:C0878544 SCTID:85898001 icd11.foundation:282225286 ICD10CM:I42" "Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis." "UMLS:C0027430 SNOMEDCT_US:52756005" "An abnormality of phosphate homeostasis or concentration in the body." "UMLS:C4022032" @@ -56038,7 +55617,6 @@ "Chronic form of salpingo-oophoritis." "SCTID:198142001 DOID:12265 UMLS:C0156328 MEDGEN:510244 ICD9:614.1" "The amount of a porphobilinogen deaminase when measured in blood serum." "Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." "NORD:913 MEDGEN:1762238 Orphanet:1466 NCIT:C3817 DOID:0080910 UMLS:C5399761 OMIMPS:214150 GARD:6027" - "A non-cancerous nodular enlargement of the prostate gland. It is characterized by the presence of epithelial cell nodules, and stromal nodules containing fibrous and smooth muscle elements. It is the most common urologic disorder in men, causing blockage of urine flow." "HP:0008711 NCIT:C2897 ICD9:600.0 ICD10:N40 DOID:11132 ICD9:600.20 SCTID:266569009 SNOMEDCT:266569009 MeSH:D011470 UMLS:C1704272 MEDGEN:312369 ICD9:600 MONDO:0010811 MedDRA:10004446 MESH:D011470 OMIM:600082 NCIt:C2897 DOID:2883" "CAMOS syndrome is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive." "OMIM:606937 MEDGEN:1387501 SCTID:726031001 UMLS:C4511633 Orphanet:83472 GARD:9977" "The determination of the amount of protein kinase c gamma type in a sample" "PMID:28240269" @@ -56127,7 +55705,6 @@ "A delusion is a fixed false belief held despite evidence to the contrary. The term delusion broadly encompasses all false judgments that possess the following external characteristics to a significant, albeit unspecified, extent: (1) they are held with an exceptional level of conviction, accompanied by an unparalleled subjective certainty; (2) there is an inability to consider alternative experiences or compelling counter-arguments; (3) the content of the belief is impossible." "SNOMEDCT_US:2073000 UMLS:C0011253" "quantification of some aspect of athletic endurance " "A in situ carcinoma that involves the lip." "MEDGEN:83849 UMLS:C0347082 NCIT:C4588 SCTID:92643000 ICD9:230.0 DOID:8661" - "A herpes simplex that results_in infection located_in genital system, or located_in rectum, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which is transmitted_by sexual contact. The infection has_symptom sores, has_symptom fever, and has_symptom swollen glands." "MeSH:D006558 MESH:D006558 DOID:8704 NCIT:C14364 UMLS:C0019342 ICD9:054.1 MEDGEN:42436 ICD9:054.19 MedDRA:10018151 ICD10:A60 MONDO:0005770 SCTID:33839006 ICD9:054.10 MedDRA:10018150" "The amount of a leucine-rich repeat and fibronectin type-III domain-containing protein 3 when measured in blood serum." "Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate)." "SNOMEDCT:87979003 UMLS:C0008925 DOID:674 SNOMEDCT_US:63567004 OMIM:119570 ICD10:Q35 ICD9:749.0 OMIM:119540 Fyler:4876 Orphanet:2014 UMLS:C2981150 SNOMEDCT_US:87979003 NCIt:C87069" @@ -56277,7 +55854,7 @@ "Quantification of ubiquitin-like modifier-activating enzyme ATG7 in a sample." "PMID:29875488" "MEDGEN:1846123 UMLS:C5882671 OMIM:620150" "The epithelial component of the choroid plexus. Consists of cuboidal epithelial cells surrounding a core of capillaries and loose connective tissue." "UMLS:C1516506 NCIT:C42079 BTO:0006008 MA:0000824 EMAPA:36608 FMA:242811" - "The simplest member of the class of bromobenzenes, that is benzene in which a single hydrogen has been substituted by a bromine. A liquid at room temperature (m.p. -30degreeC; b.p.760 156degreeC), it is used as a solvent, particularly for large-scale crystallisations, and for the introduction of phenyl groups in organic synthesis." "MetaCyc:BROMOBENZENE KEGG:C11036 PMID:10996478 Beilstein:1236661 CAS:108-86-1 Wikipedia:Bromobenzene PMID:24318069 Reaxys:1236661" + "The simplest member of the class of bromobenzenes, that is benzene in which a single hydrogen has been substituted by a bromine. A liquid at room temperature (m.p. -30degreeC; b.p.760 156degreeC), it is used as a solvent, particularly for large-scale crystallisations, and for the introduction of phenyl groups in organic synthesis." "MetaCyc:BROMOBENZENE KEGG:C11036 PMID:10996478 CAS:108-86-1 Wikipedia:Bromobenzene PMID:24318069 Reaxys:1236661" "Quantification of the amount of X-12855 in a sample." "PMID:24816252" "The determination of the amount of roundabout homolog 3 in a sample" "PMID:28240269" "A rare disorder of the digestive tract characterized by malabsorption and anemia. It is likely caused by infection leading to small intestinal mucosal injury, bacterial overgrowth and inflammatory changes. It is most prevalent in residents and visitors to tropical and subtropical climates. Clinical signs include anorexia, abdominal bloating, diarrhea and weight loss. Clinical course may progress to deficiencies of folate, vitamin B12 and iron. Prognosis is favorable with nutrient replacement and antibiotic therapy, however relapses are common." "NCIT:C45428 UMLS:C0038054 icd11.foundation:316377284 MESH:D013182 SCTID:47384003 ICD9:579.1 DOID:10607 ICD10CM:K90.1 MEDGEN:21300" @@ -56381,7 +55958,7 @@ "MEDGEN:478336 UMLS:C3276706" "The amount of a matrix Gla protein when measured in blood serum." - "A pyridinecarboxamide that is pyridine in which the hydrogen at position 3 is replaced by a carboxamide group." "KEGG:C00153 PMID:16766489 PMID:22207684 MetaCyc:NIACINAMIDE LINCS:LSM-5428 PMID:24635573 Drug_Central:1906 PMID:8767167 PMID:18930755 PMID:22709272 PMID:21926578 PMID:12014919 PMID:14757966 PMID:12519385 KNApSAcK:C00000209 PMID:9518388 PMID:23016598 PMID:22407380 PMID:24027187 PMID:24077178 PMID:15497767 PMID:16596767 PMID:11355130 PMID:23047329 Patent:US2904552 PMID:25561219 PMID:31710686 PMID:2026685 Patent:US2993051 PDBeChem:NCA PMID:16871361 DrugBank:DB02701 PMID:8620561 PMID:12890690 PMID:17129213 PMID:12487919 PMID:33196157 PMID:12709297 PMID:22626821 PMID:22770225 PMID:18987186 PMID:11814060 PMID:15834926 PMID:22361740 PMID:15807725 PMID:19212411 PMID:23028781 PMID:22536229 PMID:12782109 PMID:32249824 PMID:18316796 PMID:19539713 PMID:18514428 PMID:22359146 PMID:15995937 PMID:25504347 Beilstein:383619 PMID:22699421 PMID:15780941 PMID:22232263 PMID:19544437 PMID:22543086 PMID:15563975 PMID:16029679 PMID:21891976 Gmelin:3336 PMID:18368629 PMID:23043891 PMID:18373238 PMID:10884473 Reaxys:383619 KEGG:D00036 PMID:17021258 HMDB:HMDB0001406 PMID:18389009 PMID:14871431 PMID:16209160 Wikipedia:Nicotinamide PMID:33471934 PMID:22456321 PMID:18234191 FooDB:FDB012485 PMID:21918528 PMID:22160932 PMID:22763693 PMID:21503886 CAS:98-92-0 PMID:22067079 PMID:14729974 PMID:24559077 PMID:22281243" + "A pyridinecarboxamide that is pyridine in which the hydrogen at position 3 is replaced by a carboxamide group." "KEGG:C00153 PMID:16766489 PMID:22207684 MetaCyc:NIACINAMIDE LINCS:LSM-5428 PMID:24635573 Drug_Central:1906 PMID:8767167 PMID:18930755 PMID:22709272 PMID:21926578 PMID:12014919 PMID:14757966 PMID:12519385 KNApSAcK:C00000209 PMID:9518388 PMID:23016598 PMID:22407380 PMID:24027187 PMID:24077178 PMID:15497767 PMID:16596767 PMID:11355130 PMID:23047329 Patent:US2904552 PMID:25561219 PMID:31710686 PMID:2026685 Patent:US2993051 PDBeChem:NCA PMID:16871361 DrugBank:DB02701 PMID:8620561 PMID:12890690 PMID:17129213 PMID:12487919 PMID:33196157 PMID:12709297 PMID:22626821 PMID:22770225 PMID:18987186 PMID:11814060 PMID:15834926 PMID:22361740 PMID:15807725 PMID:19212411 PMID:23028781 PMID:22536229 PMID:12782109 PMID:32249824 PMID:18316796 PMID:19539713 PMID:18514428 PMID:22359146 PMID:15995937 PMID:25504347 PMID:22699421 PMID:15780941 PMID:22232263 PMID:19544437 PMID:22543086 PMID:15563975 PMID:16029679 PMID:21891976 Gmelin:3336 PMID:18368629 PMID:23043891 PMID:18373238 PMID:10884473 Reaxys:383619 KEGG:D00036 PMID:17021258 HMDB:HMDB0001406 PMID:18389009 PMID:14871431 PMID:16209160 Wikipedia:Nicotinamide PMID:33471934 PMID:22456321 PMID:18234191 FooDB:FDB012485 PMID:21918528 PMID:22160932 PMID:22763693 PMID:21503886 CAS:98-92-0 PMID:22067079 PMID:14729974 PMID:24559077 PMID:22281243" "A reduced ability to participate in the back-and-forth flow of social interaction appropriate to culture and developmental level, which is normally characterized by an influence of the behavior of one person on the behavior of another person. This results in difficulty interacting with others through emotional, physical, or verbal communication." "UMLS:C4022736" "Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination." "NANDO:2200656 MESH:D001606 icd11.foundation:507309898 NCIT:C84595 NORD:851 DOID:2217 UMLS:C0005129 MEDGEN:2212 GARD:2470 OMIM:231200 MedDRA:10057473 Orphanet:274 SCTID:234478007" @@ -56402,7 +55979,7 @@ "OMIM:202650 ICD10:Q87.8" "The amount of a collagen alpha-1(V) chain when measured in blood." "PMID:37794183" "HuH-7 is a well differentiated hepatocyte derived cellular carcinoma cell line that was originally taken from a liver tumor in a 57-year-old Japanese male in 1982. The line was established by Nakabayshi, H. and Sato, J. HuH-7 is an immortal cell line of epithelial-like tumorigenic cells. It usually grow in 2D monolayers." "BTO:0001950 CLO:0009989 RRID:CVCL_0336" - "A subdivision of the digestive tract that connects the small intestine to the cloaca or anus. Lacks or has few villi[Kardong]." "EFO:0000840 EV:0100077 BTO:0000706 galen:LargeIntestine NCIT:C12379 EMAPA:19252 VHOG:0000054 SCTID:181254001 AAO:0010396 GAID:306 FMA:7201 MA:0000333 XAO:0000131 CALOHA:TS-1306 Wikipedia:Large_intestine_(anatomy) UMLS:C0021851 MESH:D007420 MIAA:0000046" + "A subdivision of the digestive tract that connects the small intestine to the cloaca or anus. Lacks or has few villi[Kardong]." "EFO:0000840 EV:0100077 BTO:0000706 galen:LargeIntestine NCIT:C12379 EMAPA:19252 VHOG:0000054 SCTID:181254001 AAO:0010396 GAID:306 FMA:7201 MA:0000333 XAO:0000131 CALOHA:TS-1306 UMLS:C0021851 Wikipedia:Large_intestine_(anatomy) MESH:D007420 MIAA:0000046" "Quantification of the amount of erythronate in a sample." "PMID:24816252" @@ -56602,6 +56179,7 @@ "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the ovaries." "DOID:4059 NCIT:C5236 UMLS:C1335176 MEDGEN:233277" "SNOMEDCT:406733009" + "Anlage in statu nascendi in the blastoderm embryo that will give rise to the hypopharynx anlage." "FBbt:00016000" "Quantification of the amount of 1,7-dimethylurate measurement in a sample." "PMID:24816252" "Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981." "MESH:C566204 SCTID:733454004 MEDGEN:350609 Orphanet:2946 UMLS:C1862169 OMIM:112430 GARD:968" "Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: normal, 46XY [75%]; abnormal, 46 XY del in chr 2 [25%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on 10% KOSR medium." @@ -56620,7 +56198,6 @@ "Delayed tooth eruption affecting the primary dentition." "UMLS:C1849538" "Quantification of glutathione S-transferase theta-2B in a sample." "PMID:29875488" - "http://en.wikipedia.org/wiki/Sex_hormone-binding_globulin" "MeSH:D012738 NCIt:C17128" "Quantification of phosphatidylcholine 33:2 in a sample." "PMID:35668104" "Quantification of beta-defensin 115 in a sample." "PMID:29875488" @@ -56684,7 +56261,6 @@ "Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness." "UMLS:C0339539 MeSH:C536382 ICD10:H35.0 UMLS:C1851402 OMIM:605750 OMIM:613310 OMIM:617572 OMIM:616468 OMIM:601813 OMIM:133780 OMIM:305390" - "Retinal detachment is a disorder of the eye in which the retina peels away from its underlying layer of support tissue. Initial detachment may be localized or broad, but without rapid treatment the entire retina may detach, leading to vision loss and blindness." "ICD9:361.9 MedDRA:10038848 OMIM:180050 MONDO:0008375 MESH:D012163 ICD9:362.40 ICD9CM:361.9 MEDGEN:19759 SNOMEDCT:42059000 SNOMEDCT:155103005 SCTID:42059000 ICD10:H33 NCIT:C26874 ICD9:361.89 MeSH:D012163 DOID:5327 UMLS:C0035305 OMIM:312530 NCIt:C26874 SNOMEDCT:193347002" "Muscular hypotonia of one or more limbs." "UMLS:C4022919" "Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins." "UMLS:C1857690 Fyler:2210" "A malignant mesenchymal neoplasm that arises from the orbit. It is characterized by the presence of skeletal muscle tissue exhibiting embryonic features." "NCIT:C6246 DOID:3258 UMLS:C1335127 MEDGEN:233267" @@ -56730,7 +56306,6 @@ "Quantification of Fc receptor-like protein 6 in a sample." "PMID:29875488" "ICD10:G11.4 OMIM:617560 OMIM:611390" - "American trypanosomiasis, commonly known as Chagas disease (ChD), is a tropical disease mainly found in latin America and transmitted by triatomine insects (mostly Triatoma infestans and Rhodnius prolixus and Panstrongylus megistus) harboring the hemoflagellate protozoan parasite Trypanosoma cruzi. The disease is characterized by an acute phase which is either asymptomatic or manifest with fever, inflammation at the inoculation site (inoculation chancre or chagoma), unilateral palpebral edema called the Romaña sign (when the triatomine bite occurs near the eye), enlarged lymph nodes, and splenomegaly. The chronic phase is lifelong and development of chagasic cardiomyopathy (30%; complex arrhythmias, heart failure, and thromboembolic events), digestive (10%; megaoesophagus and megacolon), neurological (10%; stroke, peripheral neuropathy and autonomic dysfunction), or mixed alterations (10%) may be observed. These can all lead to high morbidity and mortality rates. [ ORDO ]" "MedDRA:10001935 NCIt:C84629 MedDRA:10044706 UMLS:C0041234 ICD10:B57.2 DOID:12140 ICD10:B57.0 UMLS:C0007932 ICD10:B57.4 ICD10:B57.3 ICD10:B57.1 MeSH:D014355 ICD9:086.2 ICD10:B57.5 ORDO:Orphanet_3386" "A genome is the full genetic content of an organism, contained in either DNA or RNA (such as for viruses)." "SNOMEDCT:18470003 NCIt:C16629 MeSH:D016678" "DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" @@ -56773,7 +56348,6 @@ "NCIt:C117191" "C. elegans stage when the larval shifts from L2d larva to dauer larva. It includes the synthesis of new cuticle, cease of phrayngeal pumping during a lethargus stage, and the shed off of old cuticle. " "WBls:0000031" - "A rubella that results_in infection has_material_basis_in Rubella virus, which is transmitted_by congenital method to the developing fetus of a pregnant woman who has contracted rubella during her first trimester." "MeSH:D012410 DOID:9228 GARD:4744 MedDRA:10010618 NANDO:2200890 SCTID:1857005 MESH:D012410 NORD:1681 UMLS:C0035921 ICD9:771.0 ICD10CM:P35.0 icd11.foundation:1059053724 MONDO:0017361 MEDGEN:19841 Orphanet:290 NCIT:C34992" "A syndromic disease characterized by growth restriction, microcephaly, skeletal dysplasia, and cognitive impairment. Less common but variable findings include brain anomalies, seizures, strokes, immunodeficiency, and cardiac anomalies, as well as ophthalmologic, skin, renal, gastrointestinal, hearing, and endocrine involvement. The term includes Microcephalic osteodysplastic primordial dwarfism type I/III (MOPDI), Taybi-Linder syndrome, Lowry-Wood syndrome, and Roifman syndrome." "OMIMPS:157640" @@ -56944,7 +56518,6 @@ "Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A1 gene." "UMLS:C0268335 SCTID:83470009 NCIT:C125696 OMIM:130000 Orphanet:90309 MESH:C536194 DOID:14720 MEDGEN:78660" "The amount of a SLIT and NTRK-like protein 3 when measured in blood serum." "A clonal hematopoietic stem cell disorder, characterized by proliferation in the bone marrow of one or more of the myeloid (i.e., granulocytic, erythroid, megakaryocytic, and mast cell) lineages. It is primarily a neoplasm of adults. (WHO 2008)" "OMIM:131440 NCIt:C103126 MEDGEN:220955 ICD9:238.79 MONDO:0020076 ICDO:9960/3 Orphanet:98274 ICDO:9975/1 ONCOTREE:MPN MedDRA:10028576 UMLS:C1292778 SCTID:425333006 GARD:9319 NCIT:C4345 DOID:2226" - "Chorea is a movement disease characterized by brief, quasi-purposeful, irregular contractions that are not repetitive or rhythmic, but appear to flow from one muscle to the next." "NCIT:C84633 GARD:15152 OMIM:118700 SCTID:230298007 MONDO:0001595 MESH:D002819 MeSH:D002819 icd11.foundation:829618737 MEDGEN:3420 ICD9:333.5 SCTID:230306001 HP:0002072 DOID:12859 MedDRA:10008748 SNOMEDCT:271700006 Orphanet:1429 NCIt:C84633 UMLS:C0008489" "The amount of a NEDD4-like E3 ubiquitin-protein ligase WWP2 when measured in blood." "PMID:37794183" "A benign, intermediate, or malignant vascular neoplasm that arises from the bone." "NCIT:C6478 UMLS:C1336946 MEDGEN:234986" @@ -57061,7 +56634,6 @@ "MeSH:D020317 SNOMEDCT:39947003" "The amount of a T cell immunoreceptor with Ig and ITIM domains when measured in blood." "PMID:37794183" "Cal-0 is an Arabidopsis ecotype." - "Metabolic disease characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia" "SCTID:91273001 MedDRA:10023676 SNOMEDCT:91273001 UMLS:C0001125 MEDGEN:1717 MESH:D000140 MONDO:0006040 DOID:3650 NCIt:C98969 MeSH:D000140" "The amount of a glycine--tRNA ligase when measured in blood serum." "Quantification of the amount of X-08766 in a sample." "PMID:24816252" @@ -57095,7 +56667,6 @@ "A non-neoplastic nodular lesion that arises from the gingiva. It is composed of epithelial cells lining connective tissue stroma." "SCTID:235001002 MEDGEN:98314 icd11.foundation:1520492305 NCIT:C4693 UMLS:C0399441" "A leukocyte that lacks granules." "FMA:62855" "An individual who conducts scientific research. In a clinical setting this individual actually conducts and/or supervises the clinical investigation and study-related procedures. The investigator monitors the safety of the trial subjects and investigational staff (under whose immediate direction an agent is administered or dispensed to a subject). The investigator collects and analyses data and study documents, and provides reports in compliance with applicable requirements. [ NCI ]" "NCIt:C25936 MO:769" - "Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD; see this term) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA) (see these terms)." "GARD:8541 MedDRA:10081268 NCIT:C85024 MONDO:0019806 Orphanet:95432 MeSH:D018888 DOID:0081388 MESH:D018888 UMLS:C0282513 MEDGEN:79466" "OBSOLETE. An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978." "OMIM:274190 MESH:C564770 Orphanet:2951" "A(n) primordium that develops into some embryonic small intestine. It develops from some hindgut proper primordium." "FBbt:00005504" @@ -57279,7 +56850,7 @@ "The amount of a dual specificity tyrosine-phosphorylation-regulated kinase 2 when measured in blood serum." "The amount of a RILP-like protein 2 when measured in blood serum." "Also known as well-differentiated thymic carcinoma, atypical thymoma, or epithelial thymoma, this type of thymoma displays morphologic characteristics of a well-differentiated carcinoma. The majority of cases occur in the anterior mediastinum as Masaoka stage II or stage III tumors. It is almost always invasive, it recurs frequently, and metastasizes in approximately 20% of the cases." "ICDO:8585/3 MONDO:0006458 ICDO:8585/1 NCIT:C7997 EFO:1000583 UMLS:C0279705 DOID:7926 MEDGEN:124648" - "Virus infection of the Gasserian ganglion and its nerve branches characterized by pain and vesicular eruptions with much swelling. Ocular involvement is usually heralded by a vesicle on the tip of the nose. This area is innervated by the nasociliary nerve." "DOID:8535 MedDRA:10030865 MESH:D006563 SCTID:87513003 MONDO:0005883 MeSH:D006563 UMLS:C0019364 MEDGEN:9236 ICD9:053.29" + "Virus infection of the Gasserian ganglion and its nerve branches characterized by pain and vesicular eruptions with much swelling. Ocular involvement is usually heralded by a vesicle on the tip of the nose. This area is innervated by the nasociliary nerve." "DOID:8535 MedDRA:10030865 MESH:D006563 SCTID:87513003 MONDO:0005883 MeSH:D006563 UMLS:C0019364 ICD9:053.29 MEDGEN:9236" "An alpha,omega-dicarboxylic acid that is adipic acid substituted with a methyl group at position C-3." "PMID:22770225 HMDB:HMDB0000555 CAS:3058-01-3 Reaxys:1723870" "The amount of a C-Maf-inducing protein when measured in blood." "PMID:37794183" @@ -57287,7 +56858,6 @@ "A hereditary autosomal dominant condition characterized primarily by single (unpaired) deciduous and permanent maxillary central incisors and short stature. Growth hormone deficiencies may also be present. Mutations in the SHH gene have been identified." "UMLS:C1840235 MESH:C537342 MEDGEN:326686 icd11.foundation:1834868112 SCTID:707609006 GARD:4877 Orphanet:2286 OMIM:147250" "Abnormally high levels of insulin in the blood." "DOID:2018 SCTID:83469008 HP:0000842 ICD9:251.1 MESH:D006946 MEDGEN:43779 UMLS:C0020459" "CS57722 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158746&type=germplasm" - "A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia." "MONDO:0005819 NCIT:C26895 ICD9:012.31 MeSH:D014387 SCTID:70341005 ICD9:012.3 ICD9:012.32 MEDGEN:11945 MESH:D014387 ICD9:012.30 DOID:1583 UMLS:C0041315" "Hearing loss due to exposure to explosive loud noise or chronic exposure to sound level greater than 85 dB. The hearing loss is often in the frequency range 4000-6000 hertz." "UMLS:C0018781 MESH:D006317 NCIT:C34664 MedDRA:10029500 SNOMEDCT:73415002 MONDO:0013098 SCTID:73415002 ICD9:388.12 MeSH:D006317 MEDGEN:5455" "A migraine disorder characterized by episodes that occur in the absence of preceding focal neurological symptoms." "UMLS:C0338480 icd11.foundation:2048783472 DOID:12783 MEDGEN:137899 MESH:D020326 SCTID:56097005 NCIT:C117004" @@ -57393,7 +56963,7 @@ "The amount of a beta-defensin 116 when measured in blood serum." "Quantification of the amount of orotate in a sample." "PMID:35347128" "An inflorescence detectable phase characterized by a swelling of the flag leaf sheath, caused by an increase in the size of the inflorescence as it grows up the leaf sheath." - "Catalysis of the reaction: adenosine + H2O = inosine + NH3." "RHEA:24408 EC:3.5.4.4 MetaCyc:ADENODEAMIN-RXN Reactome:R-HSA-5693346" + "Catalysis of the reaction: adenosine + H2O = inosine + NH3." "RHEA:24408 MetaCyc:ADENODEAMIN-RXN Reactome:R-HSA-5693346" "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." "ICD9:757.39 Orphanet:85165 OMIM:616482 ICD9:783.40 SCTID:699870002 ICD10CM:Q77.4 PMID:10053006 DOID:0111158 GARD:9443 UMLS:C2674173 MEDGEN:393098" "The amount of a interferon-induced helicase C domain-containing protein 1 when measured in blood serum." "A syndrome characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism." "NORD:1489 OMIM:302350 ICD9:759.89 MESH:C538336 MEDGEN:208665 UMLS:C0796085 DOID:0060599 GARD:7161 SCTID:445257004 Orphanet:627 icd11.foundation:938299000" @@ -57485,7 +57055,6 @@ "The amount of a tripartite motif-containing protein 72 when measured in blood serum." "A form of peritonitis seen in patients with tuberculosis, characterized by lesion either as a miliary form or as a pelvic mass on the peritoneal surfaces. Most patients have ascites, abdominal swelling, abdominal pain, and other systemic symptoms such as fever; weight loss; and anemia." "DOID:9801 icd11.foundation:925657864 ICD9:014.0 SCTID:44572005 ICD9:014.00 ICD9:014.01 MedDRA:10045102 MeSH:D014395 ICD10CM:A18.31 MedDRA:10045098 MONDO:0006000 MedDRA:10045099 UMLS:C0041325 MEDGEN:22516 MESH:D014395 MedDRA:10045101 MedDRA:10045097 MedDRA:10045MedDRA:100 MedDRA:10045096 MedDRA:10045103" - "Fear of flying is a fear of being on an airplane (aeroplane), or other flying vehicle, such as a helicopter, while in flight. It is also referred to as flying phobia, flight phobia, aviophobia or aerophobia (although the last also means a fear of drafts or of fresh air)." "NCIT:C35413 UMLS:C0344318 DOID:605 NCIt:C35413 MEDGEN:83369 MONDO:0003748 Wikipedia:Fear_of_flying" "OMIM:616028 MeSH:C538225 OMIM:614814 ICD10:Q87.2 OMIM:615297 UMLS:C0265268 OMIM:616589 MedDRA:10079369 OMIM:614219 OMIM:100300" "An osteochondrosis that results_in death and fracture located_in hip joint." "ICD10:M91 MeSH:D007873 DOID:14415" @@ -57522,13 +57091,12 @@ "Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed." "OMIM:309583" "Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by any of the organs or tissues in an organ system." "A condition in which the FORESKIN, once retracted, cannot return to its original position. If this condition persists, it can lead to painful constriction of GLANS PENIS, swelling, and impaired blood flow to the penis." "NCIt:C34893 MedDRA:10033890 SNOMEDCT:13758004 icd11.foundation:452889019 MeSH:D010263 SCTID:13758004 DOID:5334 MESH:D010263 ICD10CM:N47.2 UMLS:C0030483 MEDGEN:14611 MONDO:0006889 NCIT:C34893" - "A condition characterized by the presence of cryoglobulins in the blood. Cryoglobulins are abnormal proteins that precipitate within the microvasculature on exposure to cold; microvasculature effects of cryoglobulinemia may result in restricted tissue blood flow, tissue hypoxia, and tissue necrosis. --2004" "MONDO:0005576 NCIT:C26736 SCTID:30911005 ICD9:273.2 MESH:D003449 MEDGEN:3673 SNOMEDCT:30911005 MedDRA:10011475 UMLS:C0010403 ICD10CM:D89.1 NCIt:C26736 DOID:2917 MeSH:D003449" "A mature male germ cell that develops from a spermatid." "ZFA:0009006 NCIt:C12602 CALOHA:TS-0949 BTO:0002046 WBbt:0005321 SAEL:93 BTO:0001277 NCIt:C13277 FBbt:00004954 MeSH:D012661 FMA:67338 WBbt:0006798 MA:0002765 MAT:0000131" "Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age." "OMIM:128230 ICD10:G24.1" "A disease that affects the small or large intestine." "ICD9:564 ICD9:560-569.99 ICD9:564.4 UMLS:C0021831 ICD9:569.9 ICD10:A04 ICD9:570-579.99 MONDO:0005020 NCIt:C26801 ICD9:569 SCTID:85919009 MESH:D007410 ICD10:A08 NCIT:C26801 ICD9:520-579.99 ICD9:569.4 DOID:5295 ICD10:K63 ICD9:575 ICD9:569.49 ICD9:569.89 MEDGEN:7130" "Quantification of DDB1- and CUL4-associated factor 5 in a sample." "PMID:29875488" - "A N-alkylpiperazine that is piperzine in which the nitrogens atoms are substituted by 2-(2-hydroxyethoxy)ethyl and (4-chlorophenyl)(phenyl)methyl groups respectively." "Drug_Central:1400 LINCS:LSM-5103 KEGG:C07045 PMID:19348661 KEGG:D08054 DrugBank:DB00557 Beilstein:321392 HMDB:HMDB0014697 Reaxys:321392 PMID:19057127 PMID:15233966 Wikipedia:Hydroxyzine Patent:US2899436 VSDB:2977 CAS:68-88-2" + "A N-alkylpiperazine that is piperzine in which the nitrogens atoms are substituted by 2-(2-hydroxyethoxy)ethyl and (4-chlorophenyl)(phenyl)methyl groups respectively." "VSDB:2977 PMID:15233966 KEGG:C07045 PMID:19348661 Wikipedia:Hydroxyzine KEGG:D08054 PMID:19057127 HMDB:HMDB0014697 DrugBank:DB00557 Drug_Central:1400 Reaxys:321392 CAS:68-88-2 LINCS:LSM-5103 Patent:US2899436" "Quantification of the amount of GlcNAc sulfate conjugate of C21H34O2 steroid in a sample." "PMID:35347128" "A neoplastic proliferation of Langerhans cells with overtly malignant cytologic features. It can be considered a higher grade variant of Langerhans cell histiocytosis (LCH) and it can present de novo or progress from antecedent LCH. (WHO, 2001)" "NANDO:2200036 icd11.foundation:933337476 EFO:0007336 SCTID:724649000 NCIT:C6921 ICDO:9756/3 DOID:7146 ONCOTREE:LCS UMLS:C1260327 GARD:0010491 MONDO:0019480 MESH:D054752 GARD:10491 ICD10:C96.4 MEDGEN:266041 icd11.foundation:588958190 Orphanet:86897" "POPULATION/CONVENIENCE CONTROL" @@ -57579,7 +57147,6 @@ "The amount of a sodium- and chloride-dependent neutral and basic amino acid transporter B(0+) when measured in blood serum." "A malabsorption syndrome that is precipitated by the ingestion of foods containing GLUTEN, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION." "SCTID:396331005 OMIM:612011 MeSH:D002446 DOID:10608 ICD10CM:K90.0 OMIM:212750 MONDO:0005130 OMIMPS:212750 SNOMEDCT:396331005 NCIT:C26714 UMLS:C0007570 OMIM:609753 NCIt:C26714 Orphanet:555 MedDRA:10007864 MEDGEN:3291 MESH:D002446 ICD9:579.0 OMIM:609755" "The amount of a FAD-dependent oxidoreductase domain-containing protein 1 when measured in blood serum." - "A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord." "NCIT:C79598 DOID:9471 UMLS:C0729584 MEDGEN:152668 HP:0001287 SNOMEDCT:7180009 ICD10:G03 ICD9:322 MONDO:0004796 ICD9:322.9 MeSH:D008581 ICD9:321.8 NCIt:C79598 SNOMEDCT:25822001 SCTID:312216007 MedDRA:10053638" "A pleuropneumonia of cattle and goats caused by species of mycoplasma." "MeSH:D011002 MESH:D011002 UMLS:C0032243 DOID:5460 MEDGEN:19357 MONDO:0005716" "The amount of a S-arrestin when measured in blood." "PMID:37794183" "A malformation of the aorta." "Orphanet:98718" @@ -57622,7 +57189,7 @@ "Distention of the abdomen." "NCIt:C78161 SNOMEDCT_US:60728008 SNOMEDCT_US:41931001 UMLS:C0000731 SNOMEDCT:41931001" "A immature or mature cell in the lineage leading to and including erythrocytes." "CALOHA:TS-0290 ZFA:0009325 FMA:62845 FMA:83516" - "A glycosylsphingoid consisting of sphingosine having a beta-D-galactosyl residue attached at the 1-position." "PMID:20209561 PMID:7542630 CAS:2238-90-6 Beilstein:52571 MetaCyc:PSYCHOSINE PMID:29351991 HMDB:HMDB0000648 Wikipedia:Psychosine KEGG:C01747 LIPID_MAPS_instance:LMSP07000001 Reaxys:52571 PMID:21259322" + "A glycosylsphingoid consisting of sphingosine having a beta-D-galactosyl residue attached at the 1-position." "PMID:20209561 PMID:7542630 CAS:2238-90-6 MetaCyc:PSYCHOSINE PMID:29351991 HMDB:HMDB0000648 Wikipedia:Psychosine KEGG:C01747 LIPID_MAPS_instance:LMSP07000001 Reaxys:52571 PMID:21259322" "The age of an individual at the time an assessment takes place" "PMID:20634892" "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a selective serotonin reuptake inhibitor stimulus, a mood-stimulating drug." @@ -57650,7 +57217,7 @@ "Acute form of gonococcal cervicitis." "DOID:10615 SCTID:20943002 UMLS:C0153195 icd11.foundation:2071927498 ICD9:098.15 MEDGEN:509197" - "A branched-chain amino acid that consists of glycine in which one of the hydrogens attached to the alpha-carbon is substituted by an isopropyl group." "CAS:516-06-3 PMID:22770225 KEGG:C16436 Reaxys:506689 PMID:17190852 Gmelin:49877 Beilstein:506689 Wikipedia:Valine" + "A branched-chain amino acid that consists of glycine in which one of the hydrogens attached to the alpha-carbon is substituted by an isopropyl group." "CAS:516-06-3 PMID:22770225 KEGG:C16436 Reaxys:506689 PMID:17190852 Gmelin:49877 Wikipedia:Valine" "Dropped head syndrome (DHS) is characterized by severe kyphotic deformity of the cervico-thoracic spine. [ PMID:23637681 ]" "GARD:21874 Orphanet:447881 ORDO:447881 MONDO:0018654 UMLS:C3266164 MedDRA:10072442" "A manual method to select live single cells from a cell suspension, tissue or whole organism." "UMLS:C0431637 MeSH:C537371" @@ -57718,8 +57285,6 @@ "A genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individuals symptoms." "UMLS:C1858556 Orphanet:99715 OMIM:604308 GARD:8489 MEDGEN:346932 MESH:C536030" "The amount of a ankyrin repeat and SAM domain-containing protein 3 when measured in blood serum." - "A material which is obtained and stored for potential use during an investigation." "NCIt:C19157 SNOMEDCT:123038009" - "Disease involving the common PERONEAL NERVE or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with PARALYSIS of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the FIBULA is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31)" "SCTID:399088004 MEDGEN:78733 NCIT:C27061 NCIt:C27061 UMLS:C0270810 MedDRA:10033828 MONDO:0006903 SNOMEDCT:399088004 MeSH:D020427 MESH:D020427 DOID:6925" "A mucinous cystic neoplasm that arises from the extrahepatic bile ducts." "UMLS:C1333504 DOID:8105 MEDGEN:272603 NCIT:C5851" "Formation of spongy bone in the labyrinth capsule which can progress toward the stapes (stapedial fixation) or anteriorly toward the cochlea leading to conductive, sensorineural, or mixed hearing loss. Several genes are associated with familial otosclerosis with varied clinical signs." "OMIMPS:166800 MONDO:0005349 ICD9:387.9 SNOMEDCT:11543004 SCTID:11543004 DOID:12185 ICD9:387 MeSH:D010040 icd11.foundation:1242649410 MESH:D010040 MedDRA:10033107 NCIT:C185242 HP:0000362 MedDRA:10033108 ICD9:387.8 UMLS:C0029899 ICD10:H80 MEDGEN:10508 MedDRA:10033103 Orphanet:2794" "Enchondromatosis is a rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones." "GARD:0007251 DOID:4624 ICD10:Q78.4 MedDRA:10014642 NCIT:C3008 OMIM:166000 UMLS:CN203308 SCTID:268274005 Orphanet:296 UMLS:C0206641 UMLS:C0014084" @@ -57739,7 +57304,7 @@ "A relatively large mass of unusually firm scarlike connective tissue resulting from active participation of fibroblasts, occurring most frequently in the abdominal muscles of women who have borne children. The fibroblasts infiltrate surrounding muscle and fascia. (Stedman, 25th ed)" "MedDRA:10059354 MeSH:D018221" "The amount of a Phosphatidylcholine (O-18:1_18:2) when measured in blood serum." "Posterior part of the cerebral hemisphere (MSH)." "BAMS:OL CALOHA:TS-0693 BAMS:Occipital_lobe HBA:4180 DHBA:12148 MESH:D009778 FMA:67325 MAT:0000507 SCTID:180923002 UMLS:C0028785 BTO:0000293 Wikipedia:Occipital_lobe neuronames:140 NCIT:C12355 EV:0100170 GAID:678 BIRNLEX:1136 EFO:0000915" - "Inflammation of a synovial membrane." "MESH:D013585 MeSH:D013585 NCIT:C50766 MONDO:0002400 NCIt:C50766 UMLS:C0039103 DOID:2703 HP:0100769 MEDGEN:21051 MedDRA:10042868 SCTID:416209007" + "Inflammation of a synovial membrane." "MEDGEN:21051 UMLS:C0039103 MedDRA:10042868 MESH:D013585 HP:0100769 DOID:2703 MeSH:D013585 MONDO:0002400 NCIT:C50766 SCTID:416209007 NCIt:C50766" "Medical history of a recent bite injury due to an insect." @@ -57768,7 +57333,7 @@ "A nitrogen oxoanion formed by loss of a proton from nitric acid. Principal species present at pH 7.3." "Beilstein:3587575 Gmelin:1574 Wikipedia:Nitrate MetaCyc:NITRATE PDBeChem:NO3 CAS:14797-55-8" "Quantification of the wave-like oscillations in the alpha band (8-13 Hz) of electric potential between parts of the brain" "PMID:28922980" "A syndrome characterized by the clinical triad of advanced chronic liver disease, pulmonary vascular dilatations, and reduced arterial oxygenation (HYPOXEMIA) in the absence of intrinsic cardiopulmonary disease. This syndrome is common in the patients with LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL)." "ICD9:573.5 icd11.foundation:866605228 MEDGEN:109071 MONDO:0004694 DOID:900 MeSH:D020065 UMLS:C0600452 ICD9:417.8 SNOMEDCT:371067004 ICD10:K76.81 MedDRA:10052274 ICD10CM:K76.81 MESH:D020065 SCTID:371067004" - "A 3beta-hydroxy steroid that is cathasterone which is lacking the oxo substituent at position 6." "MetaCyc:CPD-712 KEGG:C15798 LIPID_MAPS_instance:LMST01030124 KNApSAcK:C00007277 Beilstein:7878139 Reaxys:7878139" + "A 3beta-hydroxy steroid that is cathasterone which is lacking the oxo substituent at position 6." "MetaCyc:CPD-712 KEGG:C15798 LIPID_MAPS_instance:LMST01030124 KNApSAcK:C00007277 Reaxys:7878139" "quantification of the amount of monocyte chemotactic protein 1 in a sample" "PMID:28915241" "An elongated and multinodular neurofibroma, formed when the tumor involves either multiple trunks of a plexus or multiple fascicles of a large nerve, such as the sciatic. Some plexiform neurofibromas resemble a bag of worms, others produce a massive ropy enlargement of the nerve. (Adapted from WHO.)" "MedDRA:10065866 NIFSTD:birnlex_12606 SNOMEDCT:403818001 SNOMEDCT:41252002 MeSH:D018318 NCIt:C3797 DOID:5151" @@ -57816,7 +57381,7 @@ "The determination of the amount of 40s ribosomal protein S3 in a sample" "PMID:28240269" "A liver transplant is an operation in which a donor liver is implanted into a recipient." "NCIt:C15271 SNOMEDCT:3860006 OMIT:0016620 MeSH:D016031 PMID:20431740" - "A biphenylyltetrazole where a 1,1'-biphenyl group is attached at the 5-position and has an additional trisubstituted imidazol-1-ylmethyl group at the 4'-position" "SNOMEDCT:373567002 PMID:32048541 PMID:15703421 KEGG:C07072 MeSH:D019808 PMID:31613648 Patent:US5138069 PMID:18800451 HMDB:HMDB0014816 Wikipedia:Losartan Reaxys:4770867 Drug_Central:1610 SNOMEDCT:96309000 PMID:18940180 NCIt:C66869 PMID:31636311 CAS:114798-26-4 Beilstein:4770867 PMID:18800458 PMID:18800450 PMID:11589260 PMID:11115412 DrugBank:DB00678 Patent:EP253310 KEGG:D08146 PMID:31299855 PMID:31893179 PMID:12561964 LINCS:LSM-3701" + "A biphenylyltetrazole where a 1,1'-biphenyl group is attached at the 5-position and has an additional trisubstituted imidazol-1-ylmethyl group at the 4'-position" "SNOMEDCT:373567002 PMID:32048541 PMID:15703421 KEGG:C07072 MeSH:D019808 PMID:31613648 Patent:US5138069 PMID:18800451 HMDB:HMDB0014816 Wikipedia:Losartan Reaxys:4770867 Drug_Central:1610 SNOMEDCT:96309000 PMID:18940180 NCIt:C66869 PMID:31636311 CAS:114798-26-4 PMID:18800458 PMID:18800450 PMID:11589260 PMID:11115412 DrugBank:DB00678 Patent:EP253310 KEGG:D08146 PMID:31299855 PMID:31893179 PMID:12561964 LINCS:LSM-3701" "Isolated unilateral hemispheric cerebellar hypoplasia is a rare, non-syndromic cerebellar malformation characterized by loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (i.e. normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal." "icd11.foundation:1960392411 UMLS:C4707885 GARD:20995 SCTID:766934006 MEDGEN:1638819 Orphanet:269218" "An adverse effect of a drug used therapeutically or diagnostically." "TXPO:0004320 OAE:0001804 NPO:1341 NCIT:C27955" "Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis." "NORD:914 UMLS:C0265342 MESH:C562538 ICD9:759.89 DOID:0111248 SCTID:51780007 MEDGEN:120537 Orphanet:1393 GARD:6026 icd11.foundation:1475063064 OMIM:117650" @@ -57884,7 +57449,6 @@ "SNOMEDCT:396167009 NCIt:C69104" "MEDGEN:1803118 DOID:0070571 UMLS:C5676980 OMIM:619867" "Quantification of calpain-3 in a sample." "PMID:29875488" - "A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG." "MeSH:D016171 UMLS:C0040479 SNOMEDCT:31722008 HP:0001664 MEDGEN:21214 MedDRA:10044067 MESH:D016171 SCTID:31722008 MONDO:0005478" "An arabidopsis ecotype." @@ -57915,7 +57479,7 @@ "Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly." "GARD:17093 Orphanet:199315 UMLS:C5680522 MEDGEN:1843133" "One of the paired anterior appendicular organs of the insect head." "MAT:0000086 BTO:0000074 FBbt:00004511 TGMA:0000007" - "One of two bilateral, largely symmetrical organ subdivisions within the telencephalon which contain the cerebral cortex and cerebral white matter.[FMA]." "MBA:403 neuronames:241 FMA:61817 SCTID:278251007 MA:0000133 VHOG:0001639 CALOHA:TS-2007 BIRNLEX:1042 EFO:0002521 DMBA:15739 Wikipedia:Cerebral_hemisphere UMLS:C0228174 AAO:0010480 BAMS:HEM NCIT:C12351 galen:CerebralHemisphere EMAPA:16653 UMLS:C0242202 BTO:0000231" + "One of two bilateral, largely symmetrical organ subdivisions within the telencephalon which contain the cerebral cortex and cerebral white matter.[FMA]." "MBA:403 neuronames:241 FMA:61817 SCTID:278251007 MA:0000133 VHOG:0001639 CALOHA:TS-2007 BIRNLEX:1042 EFO:0002521 DMBA:15739 Wikipedia:Cerebral_hemisphere UMLS:C0228174 AAO:0010480 galen:CerebralHemisphere BAMS:HEM NCIT:C12351 EMAPA:16653 UMLS:C0242202 BTO:0000231" "The amount of a ferritin heavy chain when measured in blood serum." "A small round cell tumor with neural differentiation arising from the soft tissues or bone." "NANDO:2200054 ICDO:9364/3 NANDO:2200055 GARD:17601 MEDGEN:151926 Orphanet:370348 UMLS:C0684337 NCIT:C9341" "An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor." "UMLS:C1333750 MEDGEN:234292 NCIT:C5744 DOID:6998" @@ -57983,7 +57547,7 @@ "The type of nucleic acid obtained as a result of following a given protocol." "A vasculature that is part of a retina [Automatically generated definition]." "MESH:D012171 FMA:76552" "The amount of a interleukin-23 receptor when measured in blood serum." - "A member of the class of pantothenic acids that is an amide formed from pantoic acid and beta-alanine." "CAS:599-54-2 DrugBank:DB01783 PMID:24727172 HMDB:HMDB0000210 KEGG:C00864 Beilstein:1727062 Wikipedia:Pantothenic_acid KEGG:D07413 Reaxys:1727062" + "A member of the class of pantothenic acids that is an amide formed from pantoic acid and beta-alanine." "CAS:599-54-2 DrugBank:DB01783 PMID:24727172 HMDB:HMDB0000210 KEGG:C00864 Wikipedia:Pantothenic_acid KEGG:D07413 Reaxys:1727062" "Any cone-rod dystrophy in which the cause of the disease is a mutation in the GUCY2D gene." "DOID:0111011 MEDGEN:400963 OMIM:601777 MESH:C538363 GARD:10656 UMLS:C1866293" "OSLAM syndrome is characterised by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangy, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anaemia." "OMIM:165660 MESH:C537138 UMLS:C1833792 SCTID:733064004 ICD10:C41.9 Orphanet:2760 GARD:0004129" "A astrocytoma (excluding glioblastoma) that involves the brain." "MEDGEN:811330 NCIT:C60780 UMLS:C3695127 SCTID:254938000" @@ -58047,7 +57611,7 @@ "Quantification of dorsal root ganglia homeobox protein in a sample." "PMID:29875488" "The amount of a eukaryotic initiation factor 4A-II when measured in blood serum." "The amount of a large ribosomal subunit protein eL14 when measured in blood." "PMID:37794183" - "A straight-chain 3-hydroxy monocarboxylic acid comprising a butyric acid core with a single hydroxy substituent in the 3- position; a ketone body whose levels are raised during ketosis, used as an energy source by the brain during fasting in humans. Also used to synthesise biodegradable plastics." "PMID:17579249 PMID:6061736 HMDB:HMDB0000357 PMID:10855969 LIPID_MAPS_instance:LMFA01050005 PMID:17190852 CAS:300-85-6 Beilstein:773861 Reaxys:773861 Wikipedia:3-hydroxybutyrate" + "A straight-chain 3-hydroxy monocarboxylic acid comprising a butyric acid core with a single hydroxy substituent in the 3- position; a ketone body whose levels are raised during ketosis, used as an energy source by the brain during fasting in humans. Also used to synthesise biodegradable plastics." "PMID:17579249 PMID:6061736 HMDB:HMDB0000357 PMID:10855969 LIPID_MAPS_instance:LMFA01050005 PMID:17190852 CAS:300-85-6 Reaxys:773861 Wikipedia:3-hydroxybutyrate" "quantification of some aspect of the cingulate cortex, a part of the brain situated in the medial aspect of the cerebral cortex" "ICD10:Q98.8" "Delayed union due to failure of healing following a skeletal fracture." @@ -58062,10 +57626,9 @@ "A dipeptide formed from L-alanyl and L-leucine residues." "Reaxys:1726651 MetaCyc:CPD-13398 HMDB:HMDB0028691 CAS:3303-34-2" "An adenocarcinoma that arises from the minor salivary glands." "MEDGEN:235328 EFO:1000379 MONDO:0006304 NCIT:C5948 UMLS:C1334768" - "Broken bones in the vertebral column." "ICD10:S12 ICD10:T08 MESH:D016103 MeSH:D016103 ICD10:S32 NCIt:C80516 SCTID:50448004 MONDO:0005309 MedDRA:10041569" "Quantification of the amount of Isoleucylleucine/leucylisoleucine in a sample." "PMID:35050183" - "A dicarboxylic acid dianion resulting from the removal of a proton from both of the carboxylic acid groups of 2-hydroxyglutaric acid." "Reaxys:5736650 Beilstein:5736650 MetaCyc:2-HYDROXYGLUTARIC_ACID" + "A dicarboxylic acid dianion resulting from the removal of a proton from both of the carboxylic acid groups of 2-hydroxyglutaric acid." "Reaxys:5736650 MetaCyc:2-HYDROXYGLUTARIC_ACID" "Nucleus in the anterior part of the hypothalamus. (MSH) * one of the magnocellular hypothalamic nuclei, an elongated plate of large, deeply staining cells located close to the third ventricle in the anterior hypothalamic area; major source of oxytocin and to a lesser extent, of antidiuretic hormone, neurohormones, which are carried to the neurohypophysis along the paraventriculohypophysial tract. (CSP)." "UMLS:C0030532 GAID:643 BAMS:PVH neuronames:387 SCTID:369131006 EFO:0002469 MA:0000848 BM:Die-Hy-PAH BTO:0002476 Wikipedia:Paraventricular_nucleus_of_hypothalamus HBA:12905 MESH:D010286 BAMS:PAH BIRNLEX:1407 EV:0100229 BAMS:Pa MBA:38 EMAPA:35665 DHBA:10476 FMA:62320" "Quantification of the amount of parathion in a sample." "PMID:36006120" "Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both." "UMLS:C0003811 UMLS:C1842820 UMLS:C0522055 UMLS:C0264886 UMLS:C0855329 SNOMEDCT_US:698247007 SNOMEDCT_US:102594003 SNOMEDCT_US:44808001 UMLS:C1832603" @@ -58096,7 +57659,7 @@ "The amount of a interleukin-33 when measured in blood." "PMID:37794183" "SNOMEDCT:64889004 MeSH:D006191" "Quantification of C-type lectin-like domain family 1 in a sample." "PMID:29875488" - "a process in which a population of cells with certain characteristics is isolated from a larger population" + "a process in which a population of cells with certain characteristics is isolated from a larger population"@en "A skin disease that is located_in the sebaceous gland." "MEDGEN:48599 MONDO:0006607 ICD9:706.1 MESH:D012625 DOID:9098 UMLS:C0036502 SCTID:3441005" @@ -58276,7 +57839,6 @@ "Quantification of some aspect of semen" "PMID:32341457" "Is the quantification of serum amyloid A protein in serum and is a family of apolipoproteins associated with high-density lipoprotein (HDL) in plasma. Different isoforms of SAA are expressed constitutively (constitutive SAAs) at different levels or in response to inflammatory stimuli (acute phase SAAs)." "quantification of the amount of interleukin 25 in a sample" - "Separation anxiety disorder (SAD), is an anxiety disorder in which an individual experiences excessive anxiety regarding separation from home or from people to whom the individual has a strong emotional attachment (e.g. a parent, caregiver, significant other or siblings)." "icd11.foundation:830200631 SCTID:11806006 DOID:10685 UMLS:C1527281 Wikipedia:Separation_anxiety_disorder MESH:D001010 MedDRA:10040045 MeSH:D001010 UMLS:C0003477 NCIT:C35014 NCIt:C35014 MEDGEN:1999 MONDO:0001098" "A astrocytoma (excluding glioblastoma) that involves the cranial nerve II." "NCIT:C6769 UMLS:C1335114 MEDGEN:235405 DOID:4991 NCIT:C7533" "UMLS:C5680426 GARD:20076 MEDGEN:1842641 Orphanet:166311" "A benign or malignant epithelial neoplasm that arises anywhere in the ductal system of the breast. This category includes intraductal papilloma, intraductal papillary carcinoma, ductal hyperplasia with or without atypia, and ductal carcinoma in situ." "NCIT:C36083 MEDGEN:184927 UMLS:C0948967 DOID:3013" @@ -58302,12 +57864,11 @@ "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ITGA2 gene." "Orphanet:98886 DOID:0111045 MEDGEN:481744 OMIM:614200 GARD:16868 MESH:C566000 UMLS:C3280114" "The amount of a chymotrypsin-like elastase family member 1 when measured in blood serum." "Severe acute respiratory syndrome is a respiratory tract infection described as a severe respiratory illness that is transmitted especially by contact with infectious material (as respiratory droplets or body fluids), is caused by a single-stranded RNA virus of the genus Coronavirus (SARS-CoV), is characterized by fever, headache, body aches, a dry cough, and hypoxia and usually by pneumonia." "DOID:2945 SCTID:398447004 UMLS:C1175175 MEDGEN:262817 icd11.foundation:652944603 MeSH:D045169 MONDO:0005091 MedDRA:10061982 MESH:D045169 NCIt:C85064 Orphanet:140896 SNOMEDCT:398447004 GARD:9237 ICD9:079.82 NCIT:C85064" - "A pyrimidinemonocarboxylic acid that is uracil bearing a carboxy substituent at position C-6." "Wikipedia:Orotic_acid Drug_Central:3402 Beilstein:383901 HMDB:HMDB0000226 KEGG:D00055 KNApSAcK:C00019689 PMID:22307261 PDBeChem:ORO PMID:22634191 Reaxys:383901 PMID:22019295 PMID:11059538 PMID:22285839 CAS:65-86-1 PMID:22707164 KEGG:C00295 MetaCyc:OROTATE PMID:22371390 Gmelin:101990 PMID:7264771 DrugBank:DB02262 PMID:22770225 PMID:22863860" + "A pyrimidinemonocarboxylic acid that is uracil bearing a carboxy substituent at position C-6." "Wikipedia:Orotic_acid Drug_Central:3402 HMDB:HMDB0000226 KEGG:D00055 KNApSAcK:C00019689 PMID:22307261 PDBeChem:ORO PMID:22634191 Reaxys:383901 PMID:22019295 PMID:11059538 PMID:22285839 CAS:65-86-1 PMID:22707164 KEGG:C00295 MetaCyc:OROTATE PMID:22371390 Gmelin:101990 PMID:7264771 DrugBank:DB02262 PMID:22770225 PMID:22863860" "Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." "NCIT:C4733 NANDO:2200917 UMLS:C0031269 OMIM:175200 NORD:1570 SCTID:54411001 DOID:3852 ICD9:759.6 NCIT:C3324 GARD:7378 Orphanet:2869 icd11.foundation:969253189 MedDRA:10034764 MEDGEN:18404 MESH:D010580" "Quantification of n-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase, isoform C in a sample." "PMID:29875488" "Grozeva et al. (2014) reported 7 unrelated boys with moderate to severe intellectual disability. All showed delayed psychomotor development in infancy and poor speech development, but all were able to talk and communicate their needs. Five of the 7 had behavioral abnormalities, including obsessive-compulsive behavior, hand-flapping, and features of autism. Older children attended special schools or had educational support. Dysmorphic features were highly variable without a consistent pattern. However, features observed in 3 or more affected patients included synophrys or eyebrow anomalies, brachycephaly, low hairline, depressed nasal bridge, prominent high nasal root, tubular nose, upslanting palpebral fissures, long and smooth philtrum, micrognathia, thin upper lip, and crowded teeth. Several patients had chewing difficulties or dribbling. Variable skeletal abnormalities, such as scoliosis, kyphosis, lordosis, and leg-length discrepancies were also reported. None had seizures, microcephaly, or growth retardation." "MONDO:0014815 DOID:0080231 UMLS:C4540478 GARD:16472 OMIM:617796 MONDO:0030918 MEDGEN:1615839 UMLS:C4225168" "A parasitic protozoa infectious disease that is caused by singled-celled protozoan parasites Trichomonas vaginalis or Trichomonas tenax, which infect the urogenital tract and mouth respectively." "MeSH:D014245 ICD9CM:131 ICD9:131.9 MESH:D014245 MONDO:0002154 ICD9:131.8 UMLS:C0040921 MEDGEN:52838 ICD9:131 NCIT:C35720 NCIt:C35720 SNOMEDCT:105648001 icd11.foundation:1220564554 DOID:1947 ICD9CM:131.9 ICD10CM:A59 SCTID:56335008" - "a specimen that is output of a process that cell culture inoculated into agar for long term storage" "Quantification of the amount of N-acetyl-cadaverine in a sample." "PMID:35347128" "Aortic arch interruption is a rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths." "Orphanet:2299 GARD:740 MEDGEN:57773 MedDRA:10022599 UMLS:C0152419 ICD10CM:Q25.21 icd11.foundation:1769930414 ICD9:745.11 NANDO:2200288" @@ -58401,7 +57962,6 @@ "A CD38-positive IgG-negative memory B cell is an IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype CD38-positive and IgG-negative." "The amount of a kinesin-like protein KIF22 when measured in blood." "PMID:37794183" "A bacterial infection induced by Enterococcus faecalis which is the most prevalent species (along with Enterococcus faecium) cultured from humans, accounting for more than 90% of clinical isolates. Enterococci are part of the normal intestinal flora of humans and animals. They have been long recognized as important human pathogens." "UMLS:C0948752 MONDO:0005121 NCIt:C86368 MedDRA:10051978 MEDGEN:1843390 NCIm:C0038404" - "A milliliter is a volume unit which is equal to one thousandth of a liter or 10^-3 L, or to 1 cubic centimeter." "MO:488 NCIt:C28254 SNOMEDCT:258773002" "OMIM:248340 OMIM:265050 ICD10:Q87.8 OMIM:257920" "an inherited disease affecting the skin and other organs. \"Butterfly children\" is the term given to those born with the disease, as their skin is seen to be as delicate and fragile as that of a butterfly." "MONDO:0006543 MESH:D016108 DOID:4959 NCIT:C84691 icd11.foundation:1060981106 Wikipedia:Epidermolysis_bullosa_dystrophica GARD:2150 Orphanet:303 MEDGEN:37179 UMLS:C0079294 SCTID:254185007 ICD9:757.39" "Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive." "Orphanet:2429 MEDGEN:373933 GARD:16598 SCTID:716108004 MESH:C563963 UMLS:C1838281 OMIM:600302" @@ -58574,7 +58134,7 @@ "A disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person." "GARD:16535 DOID:14323 UMLS:C0024796 NCIT:C34807 SCTID:19346006 NANDO:2200968 Orphanet:558 NORD:1403 MedDRA:10026829 ICD9:759.82 Orphanet:284963 MESH:D008382 MEDGEN:44287 OMIM:154700 icd11.foundation:236564145 NANDO:1200644" "A lymphocyte of B lineage that is devoted to secreting large amounts of immunoglobulin." - "A N-acylpiperidine that is piperidine substituted by a (1E,3E)-1-(1,3-benzodioxol-5-yl)-5-oxopenta-1,3-dien-5-yl group at the nitrogen atom. It is an alkaloid isolated from the plant Piper nigrum." "PMID:10575373 PMID:18639606 Gmelin:341351 CAS:94-62-2 Beilstein:90741 Reaxys:90741 Wikipedia:Piperine KEGG:C03882 PMID:25645812 KNApSAcK:C00002065 PMID:24272201 PMID:15531295 PMID:19110999 PMID:8347144 HMDB:HMDB0029377" + "A N-acylpiperidine that is piperidine substituted by a (1E,3E)-1-(1,3-benzodioxol-5-yl)-5-oxopenta-1,3-dien-5-yl group at the nitrogen atom. It is an alkaloid isolated from the plant Piper nigrum." "PMID:10575373 PMID:18639606 Gmelin:341351 CAS:94-62-2 Reaxys:90741 Wikipedia:Piperine KEGG:C03882 PMID:25645812 KNApSAcK:C00002065 PMID:24272201 PMID:15531295 PMID:19110999 PMID:8347144 HMDB:HMDB0029377" "A malignant hemangiopericytoma arising in the mediastinum." "NCIT:C6608 MEDGEN:235298 DOID:6209 UMLS:C1334598" "MEDGEN:234172 NCIT:C6120 UMLS:C1333148 SCTID:418134006 DOID:5465 ICD9:239.89" @@ -58656,7 +58216,6 @@ "Muscular pseudohypertrophy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism." "UMLS:C0270958 SCTID:716338001 GARD:8270 Orphanet:2349 MEDGEN:82860" "Quantification of the amount of colony stimulating factor 1 in a sample" "PMID:32641083" "The amount of a carcinoembryonic antigen-related cell adhesion molecule 1 when measured in blood." "PMID:37794183" - "The chemical reactions and pathways resulting in the formation of substances; typically the energy-requiring part of metabolism in which simpler substances are transformed into more complex ones." "Wikipedia:Anabolism" "A normal pancreas cell line." "An anlage is a tissue modifier describing some tissue which precedes something other, such as a precursor or forerunner for a more mature structure. For example, the stomach anlage." "MAT:0000478" "The amount of a beta-defensin 127 when measured in blood serum." @@ -58682,10 +58241,10 @@ "The amount of a acid ceramidase when measured in blood serum." "An aggressive malignant neoplasm of uncertain differentiation, characterized by the presence of epithelioid cells forming nodular patterns. The nodules often undergo central necrosis, resulting in a pseudogranulomatous growth pattern. It usually occurs in young adults. The most common sites of involvement are the extremities (distal-type epithelioid sarcoma), and less frequently the pelvis, perineum, and genital organs (proximal-type epithelioid sarcoma)." "Orphanet:293202 UMLS:C0205944 MedDRA:10015099 ONCOTREE:EPIS DOID:6193 MEDGEN:104753 NCIT:C3714 ICDO:8804/3 GARD:10181" + "A mass spectrometer is an instrument which is used to measure the mass to charge ratio of ions. All mass spectrometers consist of three basic parts: an ion source, a mass analyzer, and a detector system. The stages within the mass spectrometer are: 1. Production of ions from the sample 2. Separation of ions with different masses 3. Detection of the number of ions of each mass produced 4.Collection of data to generate the mass spectrum"@en "NCIt:C47875" "A mass spectrometer is an instrument which is used to measure the mass to charge ratio of ions. All mass spectrometers consist of three basic parts: an ion source, a mass analyzer, and a detector system. The stages within the mass spectrometer are: 1. Production of ions from the sample 2. Separation of ions with different masses 3. Detection of the number of ions of each mass produced 4.Collection of data to generate the mass spectrum" "NCIt:C47875" "The amount of a group IID secretory phospholipase A2 when measured in blood serum." "ICD10:G71.2" - "Persistent flexure or contracture of a joint. (Dorland, 27th ed)" "MEDGEN:2455 MONDO:0008779 NCIt:C84572 MESH:D001176 UMLS:C0003886 SNOMEDCT:111246005 MeSH:D001176 NCIT:C84572" "Disease caused by the liberation of exotoxins of clostridium perfringens in the intestines of sheep, goats, cattle, foals, and piglets. Type B enterotoxemia in lambs is lamb dysentery; type C enterotoxemia in mature sheep produces 'struck', and in calves, lambs and piglets it produces hemorrhagic enterotoxemia; type D enterotoxemia in sheep and goats is pulpy-kidney disease or overeating disease." "MONDO:0006747 DOID:3583 SCTID:370514003 MESH:D004767 ICD9:799.89 SNOMEDCT:370514003 MeSH:D004767" "UMLS:C1261128 OMIM:176690 MeSH:C536422" @@ -58841,7 +58400,7 @@ "Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi." "SCTID:237919007 MEDGEN:1842241 ICD9:270.2 Orphanet:352734 GARD:21529 UMLS:C5679923" "Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion." "MedDRA:10062766 OMIM:248200 OMIM:603786 OMIM:600110 ICD10:H35.5 UMLS:C0271093" - "Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. Symptoms often include vaginal discomfort, dyspareunia; urinary stress incontinence; and fecal incontinence." "UMLS:C0877015 MESH:D056887 SNOMEDCT:237113009 SCTID:237113009 icd11.foundation:148580117 MEDGEN:209090 MeSH:D056887 MONDO:0000082" + "Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. Symptoms often include vaginal discomfort, dyspareunia; urinary stress incontinence; and fecal incontinence." "MEDGEN:209090 UMLS:C0877015 MONDO:0000082 MeSH:D056887 SCTID:237113009 MESH:D056887 SNOMEDCT:237113009 icd11.foundation:148580117" "The amount of a BAG family molecular chaperone regulator 1 when measured in blood serum." @@ -58921,7 +58480,7 @@ "Quantification of the amount of X-22776 in a sample." "PMID:35347128" "OMIM:253320" "Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH)." "UMLS:C3489396 UMLS:C0271623 SNOMEDCT_US:33927004" - "A benzodioxole that consists of piperidine bearing 1,3-benzodioxol-5-yloxy)methyl and 4-fluorophenyl substituents at positions 3 and 4 respectively; the (3S,4R)-diastereomer. Highly potent and selective 5-HT uptake inhibitor that binds with high affinity to the serotonin transporter (Ki = 0.05 nM). Ki values are 1.1, 350 and 1100 nM for inhibition of [3H]-5-HT, [3H]-l-NA and [3H]-DA uptake respectively. Displays minimal affinity for alpha1-, alpha2- or beta-adrenoceptors, 5-HT2A, 5-HT1A, D2 or H1 receptors at concentrations below 1000 nM, however displays weak affinity for muscarinic ACh receptors (Ki = 42 nM). Antidepressant and anxiolytic in vivo." "PMID:22263916 PMID:21908494 PMID:18273418 PMID:17286545 PMID:11819027 PMID:12027788 PMID:21922171 PMID:11271409 PMID:15048901 PMID:14516531 PMID:22240860 PMID:19851065 PMID:11513198 PMID:15903129 PMID:16395417 LINCS:LSM-2843 PMID:14521492 PMID:12818234 PMID:18983224 PMID:11169163 PMID:11910269 PMID:21739267 PMID:17652957 PMID:15613191 PMID:17612590 PMID:14619895 PMID:19687003 PMID:11009210 PMID:16765127 PMID:15853570 PMID:21909633 PMID:22353759 PMID:17162096 PMID:17559097 PMID:14566196 PMID:22212003 PMID:12369443 PMID:15992089 PMID:22153922 PMID:15376524 PMID:15963219 PMID:17452166 PMID:22377745 PMID:22198456 PMID:15845695 CAS:61869-08-7 Beilstein:7467879 PMID:15241233 PMID:14673053 Reaxys:7467879 PMID:18808757 PMID:11565622 Drug_Central:2068 PMID:11324355 PMID:18345955 PMID:17122538 Wikipedia:Paroxetine PMID:16397315 PMID:15199661 PMID:16822276 PMID:21404089 PMID:17219219 PMID:14689334 PMID:16913391 PMID:21939725 KEGG:C07415 PMID:12088162 PMID:12920419 DrugBank:DB00715 PMID:15544025 KEGG:D02362 PMID:15374134 PMID:14566200 PMID:11563413 PMID:11360029 PMID:11281965 PMID:12421645 PMID:14624192 PMID:11893234 PMID:21452176 PMID:12906023 PMID:15264994 PMID:12820211 PMID:16426087 PMID:17874333 PMID:14978354 PMID:22283559" + "A benzodioxole that consists of piperidine bearing 1,3-benzodioxol-5-yloxy)methyl and 4-fluorophenyl substituents at positions 3 and 4 respectively; the (3S,4R)-diastereomer. Highly potent and selective 5-HT uptake inhibitor that binds with high affinity to the serotonin transporter (Ki = 0.05 nM). Ki values are 1.1, 350 and 1100 nM for inhibition of [3H]-5-HT, [3H]-l-NA and [3H]-DA uptake respectively. Displays minimal affinity for alpha1-, alpha2- or beta-adrenoceptors, 5-HT2A, 5-HT1A, D2 or H1 receptors at concentrations below 1000 nM, however displays weak affinity for muscarinic ACh receptors (Ki = 42 nM). Antidepressant and anxiolytic in vivo." "PMID:22263916 PMID:21908494 PMID:18273418 PMID:17286545 PMID:11819027 PMID:12027788 PMID:21922171 PMID:11271409 PMID:15048901 PMID:14516531 PMID:22240860 PMID:19851065 PMID:11513198 PMID:15903129 PMID:16395417 LINCS:LSM-2843 PMID:14521492 PMID:12818234 PMID:18983224 PMID:11169163 PMID:11910269 PMID:21739267 PMID:17652957 PMID:15613191 PMID:17612590 PMID:14619895 PMID:19687003 PMID:11009210 PMID:16765127 PMID:15853570 PMID:21909633 PMID:22353759 PMID:17162096 PMID:17559097 PMID:14566196 PMID:22212003 PMID:12369443 PMID:15992089 PMID:22153922 PMID:15376524 PMID:15963219 PMID:17452166 PMID:22377745 PMID:22198456 PMID:15845695 CAS:61869-08-7 PMID:15241233 PMID:14673053 Reaxys:7467879 PMID:18808757 PMID:11565622 Drug_Central:2068 PMID:11324355 PMID:18345955 PMID:17122538 Wikipedia:Paroxetine PMID:16397315 PMID:15199661 PMID:16822276 PMID:21404089 PMID:17219219 PMID:14689334 PMID:16913391 PMID:21939725 KEGG:C07415 PMID:12088162 PMID:12920419 DrugBank:DB00715 PMID:15544025 KEGG:D02362 PMID:15374134 PMID:14566200 PMID:11563413 PMID:11360029 PMID:11281965 PMID:12421645 PMID:14624192 PMID:11893234 PMID:21452176 PMID:12906023 PMID:15264994 PMID:12820211 PMID:16426087 PMID:17874333 PMID:14978354 PMID:22283559" "ICD10:H47.2" "MedDRA:10024603 ICD10:E88.1 UMLS:C0011859 OMIM:608594 OMIM:612526 OMIM:269700" @@ -58947,7 +58506,6 @@ "Quantification of f-box/LRR-repeat protein 5 in a sample." "PMID:29875488" "Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness." "UMLS:C0151311 NCIt:C26941 DOID:3817 MEDGEN:57717 NCIT:C26941 MONDO:0002782" "Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver." "Orphanet:420733 OMIM:615918" - "Disease of CARDIAC MUSCLE resulting from chronic excessive alcohol consumption. Myocardial damage can be caused by: (1) a toxic effect of alcohol; (2) malnutrition in alcoholics such as THIAMINE DEFICIENCY; or (3) toxic effect of additives in alcoholic beverages such as COBALT. This disease is usually manifested by DYSPNEA and palpitations with CARDIOMEGALY and congestive heart failure (HEART FAILURE)." "MedDRA:10001616 MeSH:D002310 MESH:D002310 ICD10CM:I42.6 SCTID:83521008 SNOMEDCT:83521008 ICD9:425.5 MEDGEN:2879 MONDO:0006643 NCIT:C53653 ICD10:I42.6 DOID:12935 UMLS:C0007192 NCIt:C53653" "The determination of the amount of quinone oxidoreductase-like protein 1 in a sample" "PMID:34814699" "SNOMEDCT:426972006" "OMIM:193090 ICD10:E53.8" @@ -59055,7 +58613,6 @@ "A material entity of anatomical origin (part of or deriving from an organism) that has as its parts a maximally connected cell compartment surrounded by a plasma membrane." "NCIt:C12508 CALOHA:TS-2035 XAO:0003012 MESH:D002477 WBbt:0004017\n CALOHA:TS-2035\n VHOG:0001533\n\n VHOG:0001533 GO:0005623 FBbt:00007002 NCIt:C48694 FMA:68646 KUPO:0000002\n\n XAO:0003012\n\n WBbt:0004017 FMA:68646\n ZFA:0009000 GO:0005623\n KUPO:0000002" "A circumferential measurement of the neck." "NCIT:C154891 PMID:33907307" - "A chronic transmural inflammation that may involve any part of the DIGESTIVE TRACT from MOUTH to ANUS, mostly found in the ILEUM, the CECUM, and the COLON. In Crohn disease, the inflammation, extending through the intestinal wall from the MUCOSA to the serosa, is characteristically asymmetric and segmental. Epithelioid GRANULOMAS may be seen in some patients." "MedDRA:10011401 MONDO:0005011 NCIt:C27837 NCIT:C2965 MESH:D003424 UMLS:C0010346 NCIt:C2965 ICD9:555.1 NANDO:2200921 OMIM:266600 NANDO:1200446 MEDGEN:3664 icd11.foundation:1267652425 Orphanet:206 NANDO:1200444 SNOMEDCT:34000006 MeSH:D003424 SCTID:34000006 DOID:8778 SCTID:7620006 ICD10:K50" "Protein/DNA binding (PB–seq), to determine the binding energy landscape" "PMID:22479205" "ICD10:E77.8" @@ -59129,7 +58686,7 @@ "OMIM:608323 ICD10:G60.0" "Diseases of bones." "ICD10:M89 NANDO:2100291 MEDGEN:14182 ICD10CM:M80-M85 ICD10:M90 ICD10:M48 ICD10:M49 SCTID:76069003 MESH:D001847 MONDO:0005381 ICD9:731.8 UMLS:C0005940 ICD10:M84 NANDO:2100293 ICD10:M46 DOID:0080001 ICD9:733.99" "An autosomal dominant congenital anomaly characterized by a massively dilated urinary bladder with disrupted smooth muscle in the bladder wall. MGBL is a sex-limited trait with 95% male predominance, and incomplete penetrance. Affected males frequently die in utero." "OMIM:618719" - "A C19-gibberellin that is a pentacyclic diterpenoid responsible for promoting growth and elongation of cells in plants. Initially identified in Gibberella fujikuroi,it differs from gibberellin A1 in the presence of a double bond between C-3 and C-4." "CAS:77-06-5 PMID:23076568 PMID:19815399 AGR:IND44675921 PMID:24232845 KEGG:C01699 MetaCyc:GIBBERELLIN LIPID_MAPS_instance:LMPR0104170002 PMID:21216576 Wikipedia:Gibberellic_acid PDBeChem:GA3 PMID:18948165 PMID:22044348 BPDB:371 HMDB:HMDB0003559 Reaxys:54346 DrugBank:DB07814 KNApSAcK:C00000003 PMID:23857350 PMID:23818834 Beilstein:54346 PMID:22516192" + "A C19-gibberellin that is a pentacyclic diterpenoid responsible for promoting growth and elongation of cells in plants. Initially identified in Gibberella fujikuroi,it differs from gibberellin A1 in the presence of a double bond between C-3 and C-4." "CAS:77-06-5 PMID:23076568 PMID:19815399 AGR:IND44675921 PMID:24232845 KEGG:C01699 MetaCyc:GIBBERELLIN LIPID_MAPS_instance:LMPR0104170002 PMID:21216576 Wikipedia:Gibberellic_acid PDBeChem:GA3 PMID:18948165 PMID:22044348 BPDB:371 HMDB:HMDB0003559 Reaxys:54346 DrugBank:DB07814 KNApSAcK:C00000003 PMID:23857350 PMID:23818834 PMID:22516192" "Quantification of interleukin-31 in a sample." "PMID:29875488" "Quantification of the amount of an inorganic ion, such as magnesium, iron or calcium, in a sample" "PMID:23696881" "The amount of a septin-6 when measured in blood serum." @@ -59156,7 +58713,7 @@ "A linear polysaccharide made up from alternating D-galactose and 3,6-anhydro-alpha-L-galactopyranose residues joined by alpha-(1->3)- and beta-(1->4)-linkages." "SNOMEDCT:256227006 MeSH:D012685 KEGG:C01399 Wikipedia:Agarose PMID:25449918 PMID:25458280 PMID:25557616 PMID:25450795 CAS:9012-36-6 PMID:25598209 PMID:25130135" - "A hydroxybutyric acid having a single hydroxyl group located at position 2; urinary secretion of 2-hydroxybutyric acid is increased with alcohol ingestion or vigorous physical exercise and is associated with lactic acidosis and ketoacidosis in humans and diabetes in animals." "PMID:168632 Beilstein:878248 KEGG:C05984 LIPID_MAPS_instance:LMFA01050004 CAS:600-15-7 Wikipedia:2-Hydroxybutyric_acid PMID:164303 Reaxys:878248 PMID:15749359 HMDB:HMDB0000008" + "A hydroxybutyric acid having a single hydroxyl group located at position 2; urinary secretion of 2-hydroxybutyric acid is increased with alcohol ingestion or vigorous physical exercise and is associated with lactic acidosis and ketoacidosis in humans and diabetes in animals." "PMID:168632 KEGG:C05984 LIPID_MAPS_instance:LMFA01050004 CAS:600-15-7 Wikipedia:2-Hydroxybutyric_acid PMID:164303 Reaxys:878248 PMID:15749359 HMDB:HMDB0000008" "Toxoplasma gondii seropositivity is the result of a measurement of circulating T. gondii specific antibodies. T. gondii is a parasitic protozoan that causes toxoplasmosis" "Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy." "GARD:16986 OMIM:604802 Orphanet:157946 UMLS:C1858114 MESH:C565747 MEDGEN:347622" "A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes \"foamy'' aspect." "GARD:231 NCIT:C122664 SCTID:447351004 OMIMPS:603896 MEDGEN:347037 DOID:0060868 UMLS:C1858991 Orphanet:135" @@ -59266,7 +58823,6 @@ "A type of cataract with punctate opacities of the lens." "UMLS:C1969675 UMLS:C0271165 SNOMEDCT_US:40714009" "Subdivision of body proper, which consists of a maximal set of diverse subclasses of organ and organ part spatially associated with the ribcage, thoracic and lumbar vertebral column, sacrum and coccyx, it is partially surrounded by skin of trunk. Examples: There is only one trunk." "SAEL:112 MFO:0001720 NIFSTD:sao1078172392 FMA:7181 BTO:0001493 TAO:0001115 MAT:0000296 XAO:0003025" "UMLS:C4755295 MEDGEN:1653253 GARD:21538 Orphanet:357225 icd11.foundation:129937701" - "A condition that is characterized by inflammation, ulceration, and perforation of the nose and the PALATE with progressive destruction of midline facial structures. This syndrome can be manifested in several diseases including the nasal type of EXTRANODAL NK-T-CELL LYMPHOMA and GRANULOMATOSIS WITH POLYANGIITIS." "NCIT:C8196 ICD10:M31.2 MeSH:D006103 MEDGEN:42292 MONDO:0006828 SNOMEDCT:58961005 ICD9:446.3 MESH:D006103 DOID:9072 MedDRA:10024255 UMLS:C0018197" "A rare lymphoma that arises from the liver and the bulk of the tumor is located in the liver. The most frequent types of lymphoma that arise from the liver are diffuse large B-cell lymphoma and mucosa-associated lymphoid tissue lymphoma." "NCIT:C4949 UMLS:C1112746 DOID:901 MEDGEN:207276" "Tumors of the iris characterized by increased pigmentation of melanocytes. Iris nevi are composed of proliferated melanocytes and are associated with neurofibromatosis and malignant melanoma of the choroid and ciliary body. Malignant melanoma of the iris often originates from preexisting nevi." "MONDO:0002658 SCTID:188264002 DOID:3478 UMLS:C0346372 MeSH:D015811 MEDGEN:91103 NCIT:C4554" "The amount of a MICAL-like protein 1 when measured in blood serum." @@ -59295,7 +58851,7 @@ "At the hinder part of the medial wall of the vestibule is the orifice of the vestibular aqueduct, which extends to the posterior surface of the petrous portion of the temporal bone. It transmits a small vein, and contains a tubular prolongation of the membranous labyrinth, the ductus endolymphaticus, which ends in a cul-de-sac between the layers of the dura mater within the cranial cavity. [WP,unvetted]." "Wikipedia:Vestibular_aqueduct MA:0001186 GAID:885 FMA:77821 MESH:D014723" "A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis." "MEDGEN:3052 DOID:2581 GARD:8542 MESH:D002806 icd11.foundation:1923035846 SCTID:360507004 NCIT:C84632 ICD10CM:Q77.3 Orphanet:93442 UMLS:C0008445 NANDO:2201017 ICD9:756.59" "GARD:17227 MEDGEN:463248 UMLS:C3151898 OMIM:500009 icd11.foundation:723205095 Orphanet:254864" - "An oxoproline having the oxo group placed at the 5-position. It is an intermediate metabolite in the glutathione cycle." "Wikipedia:Pyroglutamic_acid Beilstein:82131 Reaxys:82131 PMID:23217740 CAS:149-87-1 PMID:17439666 PMID:22770225" + "An oxoproline having the oxo group placed at the 5-position. It is an intermediate metabolite in the glutathione cycle." "Wikipedia:Pyroglutamic_acid Reaxys:82131 PMID:23217740 CAS:149-87-1 PMID:17439666 PMID:22770225" "Quantification of the amount of Methylmalonic acid in a sample." "PMID:33634981" "The result of a measurement of circulating antibodies specific to a hepatitis E virus antigen." "PMID:37164013" @@ -59343,7 +58899,7 @@ "The amount of a riboflavin kinase when measured in blood serum." "A benign or malignant mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels." "DOID:3316 MEDGEN:235473 NCIT:C6528 UMLS:C1335392" - "Anterior horn disease is one of a number of medical disorders affecting the anterior horn of the spinal cord. Anterior horn diseases include spinal muscular atrophy, poliomyelitis and amyotrophic lateral sclerosis." "MESH:D016472 MEDGEN:102314 UMLS:C0154681 SCTID:85672005 ICD9:335.9 ICD9:335 DOID:4873" + "Anterior horn disease is one of a number of medical disorders affecting the anterior horn of the spinal cord. Anterior horn diseases include spinal muscular atrophy, poliomyelitis and amyotrophic lateral sclerosis." "MESH:D016472 MEDGEN:102314 UMLS:C0154681 ICD9:335.9 SCTID:85672005 ICD9:335 DOID:4873" "The amount of a actin nucleation-promoting factor WAS when measured in blood." "PMID:37794183" "SNOMEDCT:84872000" @@ -59361,7 +58917,6 @@ "The age at which systemic lupus erythematosus manifestations first appear." "Quantification of the amount of X-11491 in a sample." "PMID:24816252" "The quantification of phosphatidylcholine 38:5 levels in a sample." "PMID:23823483" - "Genetic defects in the selective or non-selective transport functions of the KIDNEY TUBULES." "MESH:D015499 MONDO:0006510 UMLS:C0035091 MEDGEN:19728 DOID:447" "Orphanet:167762" "SNOMEDCT:432195008" @@ -59373,13 +58928,11 @@ "Portion of tissue that is dorsolateral to the floor plate and part of the midbrain." "EHDAA2:0004375 ZFA:0000761 TAO:0000761 DHBA:12322 EFO:0003567" "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome, is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MCllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used." "OMIM:601076 UMLS:C4305568 GARD:5513 Orphanet:2578 MEDGEN:931237 DOID:0112179 icd11.foundation:1521808255 SCTID:717705004" - "Perforations through the whole thickness of the retina including the macula as the result of inflammation, trauma, degeneration, etc. The concept includes retinal breaks, tears, dialyses, and holes." "MONDO:0006843 MEDGEN:6176 MESH:D012167 SCTID:232006002 UMLS:C0024441 NCIT:C34795 DOID:7633 MeSH:D012167" "A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)" "MeSH:D009134 OMIM:271220" "The amount of a spermatogenesis-associated protein 20 when measured in blood serum." "Quantification of tax1-binding protein 3 in a sample." "PMID:29875488" - "An accumulation of pus, usually in a body cavity" "MeSH:D004653 MEDGEN:8597 SNOMEDCT:66696003 MONDO:0005242 UMLS:C0014009 SCTID:312682007 MedDRA:10014568 NCIt:C34572 ICD9:510 MESH:D004653 NCIT:C34572 SNOMEDCT:312682007" "The chemical reactions and pathways involving a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar." "Generate multiple RNA-seq libraries in a single reaction (RNAtag-Seq)" "PMID:25730492" @@ -59515,7 +59068,6 @@ "The amount of a E3 ubiquitin-protein ligase DTX1 when measured in blood serum." "A mature T cell that differentiated and acquired cytotoxic function with the phenotype perforin-positive and granzyme-B positive." "CALOHA:TS-0190 BTO:0000289 FMA:70573" - "An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea." "MEDGEN:1385137 UMLS:C0276357 MedDRA:10069500 DOID:0050211 SCTID:442696006 MONDO:0005460 NCIT:C80444" "Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy." "GARD:21440 MEDGEN:1669421 UMLS:C4749501 Orphanet:324381" "The amount of a nucleolin when measured in blood serum." "A dimethylxanthine having the two methyl groups located at positions 1 and 7. It is a metabolite of caffeine and theobromine in animals." "PMID:20614853 Wikipedia:Paraxanthine PMID:3798364 PMID:10593655 PMID:10416066 PMID:2882985 PMID:7920690 PMID:10877011 PMID:8529334 PMID:1128545 HMDB:HMDB0001860 LINCS:LSM-20962 PMID:10572151 PMID:9920286 PMID:20853468 PMID:21380987 MetaCyc:1-7-DIMETHYLXANTHINE PMID:20004571 Reaxys:197907 PMID:12110375 KEGG:C13747 PMID:11090584 CAS:611-59-6 PMID:7977734 PMID:3371146 PMID:22770225 PMID:18621927 PMID:17655324 PMID:16870158" @@ -59576,7 +59128,7 @@ "A fairly common and often benign valvular heart disorder characterized by redundancy or hooding of mitral valve leaflets so that they prolapse into the left atrium, often causing mitral regurgitation. It is often a symptomless condition but may be marked by varied symptoms (e.g. chest pain, fatigue, dizziness, dyspnea, or palpitations) leading in some cases to endocarditis or ventricular tachycardia." "UMLS:C0026267 icd11.foundation:1085590500 SCTID:8074002 SCTID:409712001 NCIT:C50655 MEDGEN:7671 HP:0001634 DOID:988 MESH:D008945" "Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." "ICD10:D81.2 OMIM:300400 UMLS:C2931540" "An acyclic desferrioxamine that is butanedioic acid in which one of the carboxy groups undergoes formal condensation with the primary amino group of N-(5-aminopentyl)-N-hydroxyacetamide and the second carboxy group undergoes formal condensation with the hydroxyamino group of N(1)-(5-aminopentyl)-N(1)-hydroxy-N(4)-[5-(hydroxyamino)pentyl]butanediamide. It is a siderophore native to Streptomyces pilosus biosynthesised by the DesABCD enzyme cluster as a high affinity Fe(III) chelator." "LIPID_MAPS_instance:LMFA08020169 KEGG:C06940 PMID:32039778 HMDB:HMDB0014884 PMID:28285915 PMID:31846315 PMID:18536609 PMID:31035197 KEGG:D03670 PMID:29182270 CAS:70-51-9 PMID:32734456 PMID:28455567 PMID:28156129 DrugBank:DB00746 Beilstein:2514118 PMID:11239825 Chemspider:2867 LINCS:LSM-6541 PMID:31229836 PMID:32572744 PMID:30701380 Drug_Central:792 Wikipedia:Deferoxamine PMID:33784308 Patent:BE609053 PMID:28318697 PMID:32856363" - "The parotid gland is the largest of the salivary glands. It is found wrapped around the mandibular ramus, and it secretes saliva through Stensen's duct into the oral cavity, to facilitate mastication and swallowing. [WP,unvetted]." "FMA:59790 UMLS:C0030580 NCIT:C12427 EFO:0002558 EV:0100060 galen:ParotidGland EMAPA:18537 BTO:0001004 CALOHA:TS-0748 MA:0001585 MESH:D010306 GAID:938 SCTID:181234002 Wikipedia:Parotid_gland AAO:0010095 VHOG:0000308" + "The parotid gland is the largest of the salivary glands. It is found wrapped around the mandibular ramus, and it secretes saliva through Stensen's duct into the oral cavity, to facilitate mastication and swallowing. [WP,unvetted]." "UMLS:C0030580 FMA:59790 NCIT:C12427 EFO:0002558 EV:0100060 galen:ParotidGland EMAPA:18537 BTO:0001004 CALOHA:TS-0748 MA:0001585 MESH:D010306 GAID:938 SCTID:181234002 Wikipedia:Parotid_gland AAO:0010095 VHOG:0000308" "A benign protruding lesion arising either from the endometrial cavity (endometrial polyp) or the endocervix (endocervical polyp). It may occasionally recur following complete resection. [ NCIT ]" "NCIT:C3662 MedDRA:10046811 DOID:9042 SCTID:11314008 ICD9:621.0 UMLS:C0156369 MONDO:0004701 MEDGEN:57628 ICD10CM:N84.0 NCIt:C3662" "The amount of a aldo-keto reductase family 1 member C4 when measured in blood serum." "A central nervous system disease that involves encephalitis which occurs along with meningitis." "UMLS:C0025309 MeSH:D008590 MedDRA:10027282 MESH:D008590 SCTID:7125002 DOID:10554 MEDGEN:6301 ICD10:G04 NCIT:C34813 MONDO:0005845" @@ -59620,7 +59172,6 @@ "An ammonium betaine that is pipecolic acid zwitterion with methyl groups substituted for the two hydrogens at the nitrogen. It is found in in fruits, seeds, and leaves of orange, lemon, and bergamot." "KEGG:C08283 Patent:US5972840 Reaxys:4135110 PMID:22208890 KNApSAcK:C00001367 CAS:1195-94-4" - "A prion disease found exclusively among the Fore linguistic group natives of the highlands of NEW GUINEA. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773)" "UMLS:C0022802 MedDRA:10023497 DOID:648 GARD:7617 MEDGEN:9653 icd11.foundation:553889510 ICD10:A81.81 SCTID:86188000 MeSH:D007729 Orphanet:454745 SNOMEDCT:86188000 ICD9:046.0 MESH:D007729 MONDO:0006825 ICD10CM:A81.81" "Quantification of the volume of the subcortex." "PMID:35842455" "The amount of a ribonucleoside-diphosphate reductase subunit M2 when measured in blood serum." "quantification of some metabolite in blood" @@ -59779,7 +59330,7 @@ "ICD10:Q87.2" "The stage of a sporozoan cell that reproduces by schizogony, producing a varied number of daughter trophozoites or merozoites." "IDOMAL:0000306" - "An intromittent organ in certain biologically male organisms. In placental mammals, this also serves as the organ of urination." "EMAPA:18682 Wikipedia:Penis BTO:0000405 GAID:389 CALOHA:TS-0758 EV:0100107 EHDAA2:0001433 VHOG:0000727 UMLS:C0030851 MA:0000408 MESH:D010413 EMAPA_RETIRED:18996 EFO:0000987 MIAA:0000186 MAT:0000186 EHDAA:9380 NCIT:C12409 galen:Penis SCTID:265793009 FMA:9707" + "An intromittent organ in certain biologically male organisms. In placental mammals, this also serves as the organ of urination." "EMAPA:18682 Wikipedia:Penis BTO:0000405 GAID:389 CALOHA:TS-0758 EV:0100107 EHDAA2:0001433 VHOG:0000727 UMLS:C0030851 MA:0000408 MESH:D010413 EMAPA_RETIRED:18996 EFO:0000987 MIAA:0000186 MAT:0000186 EHDAA:9380 NCIT:C12409 galen:Penis FMA:9707 SCTID:265793009" "SNOMEDCT:36703000 NCIt:C87529" "Insecta (insects) are a class of invertebrates within the arthropod phylum that have a chitinous exoskeleton, a three-part body (head, thorax and abdomen), three pairs of jointed legs, compound eyes and one pair of antennae. They are among the most diverse groups of animals on the planet, including more than a million described species and representing more than half of all known living organisms." "Wikipedia:Insect" "A germ cell tumor of the central nervous system occurring in adults." 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@@ _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid361391 + _:Bbb506da4X2D7726X2D4b07X2D80e0X2D3f7f7c25d9c5genid327422 + - - - + + @@ -23420,6 +23412,7 @@ _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid361391 + _:Bbb506da4X2D7726X2D4b07X2D80e0X2D3f7f7c25d9c5genid6310 @@ -23491,7 +23484,6 @@ _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid361391 - _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid326391 @@ -23506,13 +23498,12 @@ _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid361391 - + - _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid326207 @@ -23561,8 +23552,8 @@ _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid361391 - + @@ -23571,8 +23562,8 @@ _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid361391 - + @@ -23684,7 +23675,6 @@ _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid361391 - @@ -23708,7 +23698,6 @@ _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid361391 - _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid327399 @@ -23720,6 +23709,7 @@ 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-79407,8 +79392,8 @@ _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid361391 - + @@ -79532,7 +79517,6 @@ _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid361391 - _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid293303 @@ -79589,7 +79573,6 @@ _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid361391 - @@ -79599,9 +79582,9 @@ _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid361391 - + @@ -79633,9 +79616,9 @@ _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid361391 - + @@ -79662,6 +79645,7 @@ _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid361391 + _:Bbb506da4X2D7726X2D4b07X2D80e0X2D3f7f7c25d9c5genid217 @@ -79715,6 +79699,7 @@ _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid361391 + _:Bbb506da4X2D7726X2D4b07X2D80e0X2D3f7f7c25d9c5genid326314 @@ -79757,11 +79742,13 @@ _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid361391 + _:Bbb506da4X2D7726X2D4b07X2D80e0X2D3f7f7c25d9c5genid326078 + _:Bbb506da4X2D7726X2D4b07X2D80e0X2D3f7f7c25d9c5genid293037 @@ -79777,6 +79764,7 @@ _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid361391 + _:Bbb506da4X2D7726X2D4b07X2D80e0X2D3f7f7c25d9c5genid327230 @@ -79804,6 +79792,7 @@ _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid361391 + _:Bbb506da4X2D7726X2D4b07X2D80e0X2D3f7f7c25d9c5genid325994 @@ -79828,7 +79817,6 @@ _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid361391 - _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid325111 @@ -79874,6 +79862,7 @@ _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid361391 + _:Bbb506da4X2D7726X2D4b07X2D80e0X2D3f7f7c25d9c5genid325626 @@ -79906,6 +79895,7 @@ _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid361391 + _:Bbb506da4X2D7726X2D4b07X2D80e0X2D3f7f7c25d9c5genid327258 @@ -79938,7 +79928,6 @@ _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid361391 - _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid294758 @@ -79966,8 +79955,8 @@ _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid361391 - + @@ -79994,7 +79983,6 @@ _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid361391 - _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid326643 @@ -80006,11 +79994,11 @@ _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid361391 + - - + @@ -80134,8 +80122,8 @@ _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid361391 - + @@ -80161,6 +80149,7 @@ _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid361391 + _:Bbb506da4X2D7726X2D4b07X2D80e0X2D3f7f7c25d9c5genid293089 @@ -80242,7 +80231,6 @@ _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid361391 - _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid326295 @@ -80255,7 +80243,6 @@ _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid361391 - _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid292073 @@ -80296,6 +80283,7 @@ _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid361391 + _:Bbb506da4X2D7726X2D4b07X2D80e0X2D3f7f7c25d9c5genid325246 @@ -80307,6 +80295,7 @@ _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid361391 + _:Bbb506da4X2D7726X2D4b07X2D80e0X2D3f7f7c25d9c5genid30965 @@ -80337,7 +80326,6 @@ _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid361391 - _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid292486 @@ -80358,8 +80346,8 @@ _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid361391 - + @@ -80493,13 +80481,14 @@ _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid361391 + _:Bbb506da4X2D7726X2D4b07X2D80e0X2D3f7f7c25d9c5genid25416 - + @@ -80614,8 +80603,8 @@ _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid361391 - + @@ -80701,8 +80690,8 @@ _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid361391 - + @@ -80728,14 +80717,16 @@ _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid361391 + _:Bbb506da4X2D7726X2D4b07X2D80e0X2D3f7f7c25d9c5genid35995 - + + _:Bbb506da4X2D7726X2D4b07X2D80e0X2D3f7f7c25d9c5genid324690 @@ -80757,7 +80748,6 @@ _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid361391 - _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid326059 diff --git a/src/ontology/reports/obsoletes.tsv b/src/ontology/reports/obsoletes.tsv index e2e21c46..1778feaf 100644 --- a/src/ontology/reports/obsoletes.tsv +++ b/src/ontology/reports/obsoletes.tsv @@ -61,6 +61,8 @@ "GO:0006486" "GO:0008152" + "GO:0008152" + "GO:0009058" "GO:0043170" "GO:0009058" diff --git a/src/ontology/reports/synonyms.tsv b/src/ontology/reports/synonyms.tsv index 04e37fad..1e16e1e0 100644 --- a/src/ontology/reports/synonyms.tsv +++ b/src/ontology/reports/synonyms.tsv @@ -31,14 +31,14 @@ "placenta" "Fanconi anemia complementation group D2" "basal cell neoplasm" + "obsolete_osteomesopyknosis" "T2" + "Autosomal dominant spastic paraplegia type 3" "cadherin-2 measurement" "level of importin subunit alpha-6 in blood serum" - "Autosomal dominant spastic paraplegia type 3" "radiation pneumonitis" - "metabolic syndrome X" - "obsolete_osteomesopyknosis" "level of nucleosome-remodeling factor subunit BPTF in blood serum" + "metabolic syndrome X" "pancreas lymphoma" "sorting nexin-8" "hereditary mucoepithelial dysplasia" @@ -50,8 +50,8 @@ "1,6-anhydroglucose measurement" "Episodic flaccid weakness" "obsolete_Potocki-Shaffer syndrome" - "brachycephaly, trichomegaly, and developmental delay" "Hyperuricemia" + "brachycephaly, trichomegaly, and developmental delay" "level of dynein light chain Tctex-type 3 in blood serum" "level of max-interacting protein 1 in blood serum" "nervous system disease" @@ -64,8 +64,8 @@ "obsolete non-dystrophic myopathy" "L-Cysteine measurement" "obsolete_antibiotic" - "Bladder Adenocarcinoma" "Cleft palate - stapes fixation - oligodontia" + "Bladder Adenocarcinoma" "level of FYN-binding protein 1 in blood" "corpus callosum mid-anterior volume measurement"@en "central nervous system germinoma" @@ -96,13 +96,13 @@ "Basal epidermolysis bullosa simplex" "non-acquired combined pituitary hormone deficiency" "nemaline myopathy 9" - "obsolete_spondyloepimetaphyseal dysplasia with joint laxity" "Congenital disorder of glycosylation with developmental anomaly" - "level of chitinase-3-like protein 1 in blood serum" "obsolete_pharynx" + "level of chitinase-3-like protein 1 in blood serum" "Carcinus maenas" "splicing factor ESS-2 homolog" "communicating hydrocephalus" + "obsolete_spondyloepimetaphyseal dysplasia with joint laxity" "level of Ethyl 2-ethylhexanoate in blood" "acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins" "female reproductive organ" @@ -147,9 +147,9 @@ "interleukin-11 measurement" "amp kinase (alpha2beta2gamma1) measurement" "obsolete_Mowat-Wilson syndrome due to a ZEB2 point mutation" - "PH and SEC7 domain-containing protein 2 measurement" "congenital entropion" "fibromyalgia" + "PH and SEC7 domain-containing protein 2 measurement" "dyskeratosis congenita" "hypertension, pregnancy-induced" "serine/threonine-protein kinase tousled-like 1" @@ -175,8 +175,8 @@ "D-Fructose measurement" "NCI-H1334" "annexin A9 measurement" - "HEK-293HR1"@en "GM17828" + "HEK-293HR1"@en "mixed endometrial stromal and smooth muscle tumor" "focal facial dermal dysplasia type II" "level of E3 ubiquitin-protein ligase RAD18 in blood serum" @@ -191,22 +191,22 @@ "intermediate uveitis" "level of protein Mdm4 in blood serum" "chitinase-3-like protein 2" - "Metabolic disease with dementia" "homeobox protein HMX2" + "Metabolic disease with dementia" "adult acute megakaryoblastic leukemia" "TE-1" "spondyloepimetaphyseal dysplasia, Strudwick type" "renal hypomagnesemia 3" "zinc finger protein 560" "pneumoviridae virus seropositivity" - "obsolete_Familial dementia, Danish type" "familial hypoaldosteronism" + "obsolete_Familial dementia, Danish type" + "obsolete_behavioural disease" "eicosenoylcarnitine (C20:1) measurement" "diphyllobothriasis" - "obsolete_behavioural disease" "wine liking measurement" - "atypical hemolytic-uremic syndrome with B factor anomaly" "Parasteatoda tepidariorum" + "atypical hemolytic-uremic syndrome with B factor anomaly" "prostatic adenoma" "level of endophilin-B2 in blood serum" "desmoid tumor caused by somatic mutation" @@ -236,8 +236,8 @@ "level of huntingtin-interacting protein 1-related protein in blood" "CEL-seq" "tumor necrosis factor beta measurement" - "retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies" "obsolete_ADULT syndrome" + "retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies" "obsolete_Renpenning syndrome" "level of pro-MCH in blood" "CS57660" @@ -264,17 +264,17 @@ "interleukin-33 (Rattus norvegicus)" "1-eicosatrienoylglycerophosphocholine measurement" "4-acetamidobutanoate" + "level of cadherin-22 in blood" "level of Phosphatidylcholine (16:0_16:1) in blood serum" "alkaline phosphatase, placental type" - "level of cadherin-22 in blood" "complement component 3 deficiency" "spatial transcriptomics" "Ectodermal dysplasia - cutaneous syndactyly syndrome" "level of small integral membrane protein 9 in blood serum" "vasa recta descending limb" "level of complement C1q and tumor necrosis factor-related protein 9A in blood serum" - "Calypte anna" "focal genome amplification" + "Calypte anna" "dorsal closure stage" "autosomal dominant ichthyosis vulgaris" "huntingtin-interacting protein K" @@ -343,12 +343,12 @@ "nephronophthisis 1" "glycodeoxycholate" "obsolete_D-2-hydroxyglutaric aciduria" - "obsolete_digitotalar dysmorphism" "Recurrent fractures" "retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations" "retroperitoneum carcinoma" - "Ras-related protein Rab-22A" + "obsolete_digitotalar dysmorphism" "tRNA-specific adenosine deaminase 1" + "Ras-related protein Rab-22A" "Long philtrum" "X-12193 measurement" "level of probable transmembrane reductase CYB561D1 in blood serum" @@ -412,9 +412,9 @@ "imidazole propionate measurement" "anus adenocarcinoma" "palmitoyl-arachidonoyl-glycerophosphocholine (2) measurement" - "multiple gestation" "obsolete_vagal ganglion 4" "obsolete_age of onset" + "multiple gestation" "protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1" "lactose intolerance adult type" "level of clusterin-associated protein 1 in blood serum" @@ -429,8 +429,8 @@ "adenoid cystic carcinoma of oropharynx" "obsolete_KID syndrome" "obsolete_Wilms tumor (bis)" - "CCL11 measurement" "cadherin-related family member 5 measurement" + "CCL11 measurement" "CS57751" "dermatitis, atopic, 2" "retinal dystrophy with or without macular staphyloma" @@ -459,8 +459,8 @@ "ILSXISS98/TejJ" "obsolete_dermis" "S-methylcysteine" - "atresia of urethra" "height growth measurement" + "atresia of urethra" "regulator of G-protein signaling 5" "Granular Cell Tumor" "obsolete_autosomal recessive ataxia, Beauce type" @@ -483,8 +483,8 @@ "Fundulus heteroclitus" "obsolete_Woolly hair" "AB SOLiD System 2.0" - "skin lymphangioma" "obsolete_Angelman syndrome due to paternal uniparental disomy of chromosome 15" + "skin lymphangioma" "level of Phosphatidylcholine (18:2_20:1) in blood serum" "docosapentaenoate n3 DPA; 22:5n3-to-X-12627 ratio" "level of tripartite motif-containing protein 72 in blood serum" @@ -531,13 +531,13 @@ "camptobrachydactyly" "X-linked dominant chondrodysplasia punctata" "cyclin-dependent kinase 2-associated protein 1 measurement" + "baculoviral IAP repeat-containing protein 5 measurement" "halothane" "6p22 microdeletion syndrome" "echovirus infectious disease" "vacuolar protein sorting-associated protein 29" - "baculoviral IAP repeat-containing protein 5 measurement" - "level of 40S ribosomal protein S4, X isoform in blood serum" "Hemoglobin C to Total Hemoglobin Ratio Measurement" + "level of 40S ribosomal protein S4, X isoform in blood serum" "Abnormal gastrointestinal vascular morphology" "lysophosphatidylcholine acyl C28:0 measurement" "susceptibility to childhood ear infection measurement" @@ -575,8 +575,8 @@ "tumor stage" "kidney benign neoplasm" "offspring mortality measurement" - "X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome" "obsolete_Charcot-Marie-Tooth disease type 1" + "X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome" "Familial hypocalciuric hypercalcemia type 2" "R1" "glandular cell neoplasm" @@ -690,16 +690,15 @@ "Liver Diffuse Large B-Cell Lymphoma" "odontochondrodysplasia 1" "Dilation of Virchow-Robin spaces" - "glucose measurement" "Åland Islands eye disease" + "glucose measurement" "sodium-coupled monocarboxylate transporter 1 measurement" "lithostathine-1-alpha" "rho-related GTP-binding protein Rho6 measurement" "obsolete_Fetal Gaucher disease" - "pulpitis" "phosphatidylcholine 34:3" - "loess transformation" "loess transformation"@en + "pulpitis" "blood component" "forehead morphology measurement" "RN-46A" @@ -761,10 +760,10 @@ "poliovirus receptor" "nervous system injury" "Brunet-Wagner neurodevelopmental syndrome" - "ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder" "level of bone marrow proteoglycan in blood" "sample collection protocol" "cyclic AMP-dependent transcription factor ATF-6 alpha measurement" + "ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder" "obsolete_amyloidosis cutis dyschromia" "familial intrahepatic cholestasis" "cadherin-3 measurement" @@ -792,8 +791,8 @@ "mood disorder" "PDZ and LIM domain protein 4" "mesenchymal hamartoma" - "Drosophila melanogaster cell line" "obsolete_progressive non-fluent aphasia" + "Drosophila melanogaster cell line" "corpus callosum posterior volume measurement"@en "profilin-1" "AG11395 cell" @@ -843,11 +842,11 @@ "free cholesterol in very large HDL measurement " "obsolete_Cyprus facial-neuromusculoskeletal syndrome" "hereditary vs non-hereditary etiology" - "obsolete_PHACE syndrome" "HepG3" + "obsolete_PHACE syndrome" + "NCI-H157" "Foveal hypoplasia - presenile cataract" "Quartz-seq" - "NCI-H157" "suicide behaviour" "basic leucine zipper transcriptional factor ATF-like 3" "appendicular lean mass" @@ -899,8 +898,8 @@ "pericardial cell primordium" "nephrotic syndrome 16" "level of TGF-beta 2 in blood" - "EoL-1" "excretion" + "EoL-1" "spondylometaphyseal dysplasia, Kozlowski type" "Acidosis" "Night blindness - skeletal anomalies - dysmorphism" @@ -1022,8 +1021,8 @@ "importin subunit alpha-3" "Ras-related protein Rab-23" "uniconazole" - "1-(1-enyl-oleoyl)-GPE (P-18:1) measurement" "HUES64-derived CD184+" + "1-(1-enyl-oleoyl)-GPE (P-18:1) measurement" "level of smad1 in blood serum" "level of dysbindin domain-containing protein 1 in blood serum" "D-Glucopyranose measurement" @@ -1042,8 +1041,8 @@ "single-stranded DNA-binding protein, mitochondrial" "level of magnesium-dependent phosphatase 1 in blood serum" "pediatric meningioma" - "acidic mammalian chitinase" "popliteal artery" + "acidic mammalian chitinase" "homeobox protein HMX3" "multiple epiphyseal dysplasia, Beighton type" "external ear carcinoma" @@ -1053,10 +1052,10 @@ "GDNF family receptor alpha-like measurement" "atypical hemolytic-uremic syndrome with C3 anomaly" "1-linoleoylglycerophosphoethanolamine measurement" + "Decreased urinary potassium" "NOG-related symphalangism spectrum disorder" "spastic ataxia 10, autosomal recessive" "cytochrome b-c1 complex subunit 7" - "Decreased urinary potassium" "level of (R)-oleoylcarnitine in blood" "disorder of magnesium transport" "total cholesterol in large LDL" @@ -1064,14 +1063,14 @@ "development or differentiation design" "Gynatresia" "VACTERL/vater association" - "talin-2 measurement" "x-linked warfarin sensitivity"@en + "talin-2 measurement" "tRNA-specific adenosine deaminase 2" "obsolete_sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy" "level of IgG receptor FcRn large subunit p51 in blood serum" + "level of thymidine phosphorylase in blood" "Actinobacillus pleuropneumoniae serovar 1 str. 4074" "short stature due to growth hormone qualitative anomaly" - "level of thymidine phosphorylase in blood" "dermatopathia pigmentosa reticularis" "receptor-binding cancer antigen expressed on SiSo cells" "Genetic syndrome with limb reduction defects" @@ -1113,9 +1112,9 @@ "macrophage activation" "pro-neuregulin-1, membrane-bound isoform" "GM12872" - "obsolete_Kallmann syndrome" "MESSA" "respiratory quotient" + "obsolete_Kallmann syndrome" "interleukin (Homo sapiens)" "obsolete_congenital genu recurvatum" "GM17116" @@ -1153,9 +1152,9 @@ "metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria" "level of pyrroline-5-carboxylate reductase 2 in blood serum" "transcription cofactor HES-6" - "mesothelial neoplasm" "obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder" "importin subunit alpha-7" + "mesothelial neoplasm" "thyroid disease" "calbindin measurement" "retinitis pigmentosa 89" @@ -1185,8 +1184,8 @@ "calsyntenin-3" "PRO-seq" "Streptococcus pneumoniae" - "cholesterol homeostasis" "brachyolmia-amelogenesis imperfecta syndrome" + "cholesterol homeostasis" "(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido) succinate lyase (fumarate-forming) activity" "Syndactyly - telecanthus - anogenital and renal malformations" "level of methylthioribose-1-phosphate isomerase in blood" @@ -1243,11 +1242,11 @@ "level of alpha-(1,3)-fucosyltransferase 7 in blood serum" "non-invasive verrucous carcinoma of the penis" "L-Ornithine measurement" - "ocular onchocerciasis" "obsolete_partial deletion of chromosome 20" + "ocular onchocerciasis" + "Amaurosis - hypertrichosis" "beta-defensin 123 measurement" "autoimmune polyendocrine syndrome type 1" - "Amaurosis - hypertrichosis" "level of 1-(1Z-hexadecenyl)-sn-glycero-3-phosphocholine in blood" "encephalocraniocutaneous lipomatosis" "Hyperlipidemia" @@ -1278,24 +1277,24 @@ "level of homeobox protein goosecoid-2 in blood serum" "Chrysolophus pictus" "stachydrine measurement" - "lymphocyte antigen 86 measurement" "prostate gland" - "mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations" + "lymphocyte antigen 86 measurement" "level of folate receptor alpha in blood serum" + "mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations" "subarachnoid space" "Mietens syndrome" "Ma-Mel-11 cell" "obsolete_Non-syndromic congenital cataract" + "neuromyelitis optica" "MHC class II deficiency" "cardiac valvular defect" - "neuromyelitis optica" + "ILSXISS99/TejJ" "library preparation" "interferon alpha-5" - "ILSXISS99/TejJ" "obsolete_response to hydrochlorothiazide" "level of ubiquitin/ISG15-conjugating enzyme E2 L6 in blood" - "tibial nerve" "juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome" + "tibial nerve" "level of TBC1 domain family member 5 in blood serum" "obsolete_defect in V-ATPase" "neuronal regeneration-related protein" @@ -1344,8 +1343,8 @@ "neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities" "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1" "Expressive language delay" - "Reduced beta/alpha synthesis ratio" "obsolete_Bethlem myopathy" + "Reduced beta/alpha synthesis ratio" "interferon gamma measurement" "nuclear cap-binding protein subunit 2" "level of cytohesin-1 in blood serum" @@ -1376,11 +1375,11 @@ "cryopyrin-associated periodic syndrome" "dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C" "heterotaxy, visceral, 5, autosomal" - "patched domain-containing protein 3" "potassium voltage-gated channel subfamily F member 1 measurement" + "patched domain-containing protein 3" "X-11374 measurement" - "obsolete_non-distal trisomy 13q" "cholesterol esters in large HDL measurement" + "obsolete_non-distal trisomy 13q" "HT144" "level of beta-galactoside alpha-2,6-sialyltransferase 1 in blood serum" "DnaJ homolog subfamily C member 12" @@ -1398,8 +1397,8 @@ "fractional excretion of lactulose to mannitol ratio"@en "sphingomyelin 14:0 measurement"@en "SK-MEL-31" - "level of partitioning defective 3 in blood" "X-linked recessive inheritance" + "level of partitioning defective 3 in blood" "level of Sterol ester (27:1/18:1) in blood serum" "Liver Inflammatory Myofibroblastic Tumor" "Glanzmann thrombasthenia" @@ -1498,12 +1497,12 @@ "suicide" "Wagner disease" "mediastinal malignant lymphoma" - "CLN2 disease" "oculopharyngodistal myopathy 2" + "CLN2 disease" "X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis" + "Aplasia cutis - myopia" "ATP-dependent NAD(P)H-hydrate dehydratase activity" "pistillate inflorescence" - "Aplasia cutis - myopia" "disintegrin and metalloproteinase domain-containing protein 23" "obsolete_tetrasomy 12p" "pyruvate metabolic process" @@ -1562,16 +1561,16 @@ "reproductive system disease" "core-binding factor subunit beta measurement" "intestinal pseudo-obstruction" - "solute carrier family 41 member 2" "level of activin/inhibin beta B chain in blood" + "solute carrier family 41 member 2" "level of interferon omega-1 in blood serum" "adult acute myeloid leukemia" "liver failure" "GM14503" "Metabolic acidosis" - "respiratory syncytial virus seropositivity" "S-sulfo-L-cysteine" "butyrophilin subfamily 3 member A3" + "respiratory syncytial virus seropositivity" "flavin adenine dinucleotide" "autosomal recessive axonal hereditary motor and sensory neuropathy"@en "multiple epiphyseal dysplasia" @@ -1598,8 +1597,8 @@ "Acromesomelic dysplasia, Maroteaux type" "obsolete_progressive muscular dystrophy" "osteoglophonic dwarfism" - "level of CLIP-associating protein 1 in blood" "refractory malignant neoplasm" + "level of CLIP-associating protein 1 in blood" "granular cell carcinoma" "level of protein canopy homolog 3 in blood serum" "adrenocortical insufficiency" @@ -1609,9 +1608,9 @@ "N-acetylarginine measurement"@en "puromycin" "glycogen storage disease due to GLUT2 deficiency" - "Flp-In-T-REx" "level of NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 10 in blood serum" "sedation" + "Flp-In-T-REx" "level of ribose-phosphate pyrophosphokinase 2 in blood serum" "KCNH1 associated disorder" "cadherin-6 measurement" @@ -1622,8 +1621,8 @@ "Osteopathia striata - pigmentary dermopathy - white forelock" "obsolete_Krabbe disease" "peripheral neurotoxicity" - "obsolete_Hall-Riggs syndrome" "X-17137 measurement" + "obsolete_Hall-Riggs syndrome" "alpha-N-acetylgalactosaminidase" "level of caveolin-2 in blood serum" "substance dependence" @@ -1661,9 +1660,9 @@ "level of Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 in blood serum" "Gadus morhua" "endogenous retrovirus group V member 1 Env polyprotein" - "obsolete_spinocerebellar ataxia type 5" "microliter per liter" "obsolete_autosomal recessive Alport syndrome" + "obsolete_spinocerebellar ataxia type 5" "obsolete_response to bleomycin" "combined oxidative phosphorylation deficiency 45" "obsolete_choroideremia" @@ -1710,17 +1709,17 @@ "alanine--glyoxylate aminotransferase" "level of hydroxyacylglutathione hydrolase-like protein in blood serum" "level of inosine triphosphate pyrophosphatase in blood serum" - "Pelvic dysplasia - arthrogryposis of lower limbs" "presumptive dorsal mesoderm" "neoplasm of hypopharynx" "pancreaticobiliary malunion" + "Pelvic dysplasia - arthrogryposis of lower limbs" "organochlorine pesticide measurement" "SE.02 two nodes or internodes visible stage" "left ventricular hypertrophy" "self-reported trait" "ovarian biphasic or triphasic teratoma" - "4-hydroxy-3-methylacetophenone" "interleukin-12 receptor subunit beta-2 measurement" + "4-hydroxy-3-methylacetophenone" "amyloid beta A4 protein measurement" "eosinophil count" "opioid use disorder"@en @@ -1795,9 +1794,9 @@ "lysosome" "X-25790 measurement" "level of protein FAM229A in blood serum" - "Spondylocostal dysostosis - hypospadias - intellectual disability" "Hammer Toe Syndrome" "GM17259" + "Spondylocostal dysostosis - hypospadias - intellectual disability" "tapasin measurement" "3C" "maxillary sinus squamous cell carcinoma" @@ -1825,10 +1824,10 @@ "N-methyltaurine measurement" "level of vesicle-associated membrane protein 7 in blood serum" "stearoyl-arachidonoyl-glycerophosphocholine (2) measurement" - "uterine disorder" "placental retention" - "NIH3T3" + "uterine disorder" "disorder of lectin complement activation pathway" + "NIH3T3" "level of aldo-keto reductase family 1 member C3 in blood serum" "obsolete_ventral anterior lateral line ganglion" "seed" @@ -1854,8 +1853,8 @@ "calcipressin-1 measurement" "tonsil neoplasm" "Autosomal dominant microcephaly" - "mitochondrial glycine transporter" "ichthyosis, lamellar, autosomal dominant" + "mitochondrial glycine transporter" "Illumina NextSeq 550" "hypopigmentation, organomegaly, and delayed myelination and development" "grade III glioma" @@ -1877,10 +1876,10 @@ "segmental intercostal artery" "obsolete myeloid neoplasms associated with PDGFRB rearrangement" "clubfoot" - "obsolete_Noonan syndrome-like disorder with loose anagen hair" "middle lateral line neuromast" "level of pyrin domain-containing protein 1 in blood serum" "synaptosomal-associated protein 23" + "obsolete_Noonan syndrome-like disorder with loose anagen hair" "benign neoplasm of pharynx" "serum N-desmethylclozapine measurement" "ephrin type-a receptor 5 measurement" @@ -1971,9 +1970,9 @@ "level of DnaJ homolog subfamily B member 4 in blood serum" "N stage" "level of V-set and immunoglobulin domain-containing protein 4 in blood serum" - "level of submaxillary gland androgen-regulated protein 3A in blood serum" "transcription factor YY2" "oxytocin-neurophysin 1" + "level of submaxillary gland androgen-regulated protein 3A in blood serum" "multiple births measurement" "calnexin measurement" "glutathione S-transferase mu 1" @@ -2117,9 +2116,9 @@ "level of 1-(1Z-hexadecenyl)-2-linoleoyl-sn-glycero-3-phosphoethanolamine in blood" "potassium voltage-gated channel subfamily G member 4 measurement" "Schistosoma mansoni" - "obsolete_syndromic ankyloblepharon" "HT55" "vascular endothelial growth factor C measurement" + "obsolete_syndromic ankyloblepharon" "level of uroplakin-3a in blood" "SARS coronavirus" "autosomal recessive polycystic kidney disease" @@ -2127,18 +2126,18 @@ "level of prostaglandin F2 receptor negative regulator in blood serum" "non-acquired combined pituitary hormone deficiency with spine abnormalities" "obsolete_Xq27.3q28 duplication syndrome" - "septin-1" "ST segment duration"@en + "septin-1" + "fructose measurement"@en "sphingomyelin 16:0 measurement"@en "mushroom body primordium" - "fructose measurement"@en - "abdominal cavity" "level of pre-B-cell leukemia transcription factor-interacting protein 1 in blood" - "level of Sterol ester (27:1/18:0) in blood serum" + "abdominal cavity" "level of glutathione S-transferase mu 5 in blood serum" - "Lyme disease" + "level of Sterol ester (27:1/18:0) in blood serum" "Delayed eruption of primary teeth" "level of IQ domain-containing protein F3 in blood serum" + "Lyme disease" "maturity-onset diabetes of the young type 10" "cytochrome P450" "methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency" @@ -2186,8 +2185,8 @@ "obsolete_cystinuria" "RNA-seq of coding RNA" "calcium ion homeostasis" - "obsolete_harlequin syndrome" "interleukin-1 beta measurement" + "obsolete_harlequin syndrome" "level of phosphatidylcholine" "level of histone-lysine N-methyltransferase 2C in blood serum" "glycogen [starch] synthase, muscle" @@ -2219,8 +2218,8 @@ "LIM domain kinase 1" "primary viral infectious disease" "sodium tungstate dihydrate" - "obsolete_Pseudohypoparathyroidism type 1A" "level of cytohesin-2 in blood serum" + "obsolete_Pseudohypoparathyroidism type 1A" "lipodystrophy-intellectual disability-deafness syndrome" "knee fracture" "caspase-9" @@ -2303,8 +2302,8 @@ "Sleep abnormality" "Lactobacillus plantarum WCFS1" "chronic liver failure" - "level of caveolin-3 in blood serum" "Hypoglycemia" + "level of caveolin-3 in blood serum" "protein FAM9B" "obsolete_split hand, bilateral" "IgG sialylation measurement" @@ -2321,11 +2320,11 @@ "dentinogenesis imperfecta" "level of SH3 and multiple ankyrin repeat domains protein 1 in blood serum" "vasoconstrictor agent" + "obsolete_pityriasis rubra pilaris" "level of putative uncharacterized protein TXNRD3NB in blood serum" "X-12040 measurement" - "obsolete_pityriasis rubra pilaris" - "L-Glutamine measurement" "nonanoylcarnitine (C9) measurement" + "L-Glutamine measurement" "autosomal recessive hypophosphatemic rickets" "bone marrow failure syndrome" "level of procathepsin L in blood" @@ -2470,9 +2469,9 @@ "obsolete_talo-patello-scaphoid osteolysis" "Ovarian cyst" "GDP-fucose protein O-fucosyltransferase 2 measurement" - "age at assessment" "level of tetradecanedioate(2-) in blood" "GM14381" + "age at assessment" "Ververi-Brady syndrome" "genotype design" "sex cord-stromal tumor" @@ -2547,10 +2546,10 @@ "PEComa" "obsolete_congenital absence/hypoplasia of fingers excluding thumb, bilateral" "C4-OH carnitine measurement" - "UM-UC-1" "level of TOM1-like protein 2 in blood serum" "isolated focal cortical dysplasia type Ib" "mesenchyme derived from head neural crest" + "UM-UC-1" "gamma-linolenate" "joule per square meter" "Prader-Willi syndrome due to translocation" @@ -2558,8 +2557,8 @@ "level of histidyl-tRNA synthetase, cytoplasmic in blood serum" "level of ADP-ribosylation factor-like protein 4D in blood serum" "penis" - "Disorder of ornithine metabolism" "cutaneous Paget disease" + "Disorder of ornithine metabolism" "obsolete_NIH3T3-L1" "aneuploidy" "obsolete_posterior lateral line ganglion" @@ -2603,11 +2602,11 @@ "X-21829 measurement" "vitamin B measurement" "trauma exposure measurement"@en - "variant Creutzfeldt-Jakob disease" "isolated growth hormone deficiency type III" "brassinolide" "cortical senile cataract" "level of beta-defensin 135 in blood serum" + "variant Creutzfeldt-Jakob disease" "obsolete_paternal uniparental disomy of chromosome 5" "1-margaroyl-2-oleoyl-GPC (17:0/18:1) measurement" "obsolete_2q23.1 microduplication syndrome" @@ -2712,9 +2711,9 @@ "calpain-2 catalytic subunit measurement" "birdshot chorioretinopathy" "Microcephaly - cardiomyopathy" + "fibrinogen C domain-containing protein 1 measurement" "Chorioretinal degeneration" "normophosphatemic familial tumoral calcinosis" - "fibrinogen C domain-containing protein 1 measurement" "syndromic anorectal malformation" "level of hyaluronan mediated motility receptor in blood" "homeobox protein DLX-4" @@ -2749,11 +2748,11 @@ "level of protein GUCD1 in blood serum" "phosphatidylinositol transfer protein beta isoform measurement" "partial androgen insensitivity syndrome" - "obsolete_paroxysmal dyskinesia" "obsolete_pure or complex X-linked spastic paraplegia" + "obsolete_paroxysmal dyskinesia" + "lung volume" "cone-rod synaptic disorder syndrome, congenital nonprogressive" "[pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1; mitochondrial measurement" - "lung volume" "erythrocyte galactose epimerase deficiency" "Primary Pulmonary Diffuse Large B-Cell Lymphoma" "Calcifying Fibrous Tumor" @@ -2807,8 +2806,8 @@ "larval day 21-29" "triglycerides to total lipids in small VLDL percentage " "BCL-2-like protein 1 measurement" - "KP-3" "vacuolar protein sorting-associated protein 37A" + "KP-3" "level of ribosomal protein S6 kinase alpha-6 in blood serum" "centrosomal protein of 85 kDa" "reticulon-1" @@ -2830,18 +2829,18 @@ "strain" "MAN1B1-congenital disorder of glycosylation" "undisturbed flow regions" + "sphingomyelin 16:1 measurement"@en "septin-10" "obsolete_physiological process" - "sphingomyelin 16:1 measurement"@en "bradypnea" "level of serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform in blood serum" "level of Sterol ester (27:1/20:5) in blood serum" "microcephaly, epilepsy, and diabetes syndrome" "fibrochondrogenesis 1" "Partial monosomy of the short arm of chromosome 17" - "IMR-5" "metopic craniosynostosis" "protein SCO2, mitochondrial" + "IMR-5" "sebacate (C10-DC) measurement" "Familial advanced sleep-phase syndrome" "TGF-beta receptor type-1" @@ -2856,8 +2855,8 @@ "platelet-derived growth factor subunit A" "glucocorticoid resistance" "(S)-2-hydroxyhexadecanoate" - "Peri-Implantitis" "glutamate decarboxylase 2" + "Peri-Implantitis" "Ras-related protein Rab-6B" "adenosine kinase" "rectum carcinoma in situ" @@ -2924,8 +2923,8 @@ "level of epidermal growth factor-like protein 6 in blood" "decidual cell" "microcytic anemia" - "obsolete_severe dermatitis-multiple allergies-metabolic wasting syndrome" "Von Willebrand disease" + "obsolete_severe dermatitis-multiple allergies-metabolic wasting syndrome" "obsolete_posterior endoderm anlage" "level of inositol polyphosphate-5-phosphatase A in blood serum" "EEG with generalized slow activity" @@ -2956,10 +2955,10 @@ "deafness-hypogonadism syndrome" "obsolete_X-linked intellectual disability-retinitis pigmentosa syndrome" "Gingivitis" - "obsolete_Usher syndrome" "severe combined immunodeficiency due to CTPS1 deficiency" - "obsolete_mucopolysaccharidosis type 4A" + "obsolete_Usher syndrome" "autoimmune encephalitis" + "obsolete_mucopolysaccharidosis type 4A" "corneal hysteresis" "Distal hereditary motor neuropathy type 5" "leukocyte cell-derived chemotaxin-2" @@ -3089,8 +3088,8 @@ "obsolete_erythrocyte galactose epimerase deficiency" "1-methylhistidine" "obsolete_cervical spina bifida aperta" - "level of E3 ubiquitin-protein ligase RNF4 in blood" "obsolete_spinocerebellar ataxia type 13" + "level of E3 ubiquitin-protein ligase RNF4 in blood" "obsolete_methylcobalamin deficiency type cblG" "1-stearoyl-2-dihomo-linolenoyl-GPI (18:0/20:3n3 or 6) measurement" "pityriasis versicolor" @@ -3179,8 +3178,8 @@ "adult T acute lymphoblastic leukemia" "classic lissencephaly" "ceramide synthase 5" - "general transcription factor II-I measurement" "Strabismus" + "general transcription factor II-I measurement" "IgG disialylation measurement" "level of cytochrome c oxidase assembly protein COX19 in blood serum" "glycogen storage disease due to muscle beta-enolase deficiency" @@ -3263,10 +3262,10 @@ "very low-density lipoprotein receptor" "coiled-coil domain-containing protein 90B, mitochondrial" "butyrophilin subfamily 2 member A2" - "thymus hyperplasia" "GATA2 deficiency with susceptibility to MDS/AML" "dyskeratosis congenita and related telomere biology disorder" "level of defensin beta 136 in blood serum" + "thymus hyperplasia" "(R)-2-hydroxyoctadecanoate" "coagulation factor XI" "trisomy" @@ -3286,8 +3285,8 @@ "cytosolic phospholipase A2" "mean fractional anisotropy measurement" "familial cold autoinflammatory syndrome 2" - "Hepatitis B virus surface antigen seropositivity" "level of interferon-induced, double-stranded RNA-activated protein kinase in blood" + "Hepatitis B virus surface antigen seropositivity" "spondylometaphyseal dysplasia with corneal dystrophy" "HUES8" "level of platelet-derived growth factor D in blood serum" @@ -3305,8 +3304,8 @@ "ankylosing spondylitis" "MELAS" "cytohesin-4 measurement" - "X-21830 measurement" "anemia, hypochromic microcytic with iron overload" + "X-21830 measurement" "hip bone size" "portal endothelial cell"@en "centrosome-associated protein 350" @@ -3342,8 +3341,8 @@ "level of ubiquitin-conjugating enzyme E2 Z in blood" "Genetic syndrome with limb malformations as a major feature" "hypopharyngeal sense organ" - "Chronic pain" "SEC61A1 deficiency" + "Chronic pain" "phospholipase A2" "RNA demethylase ALKBH5 measurement" "obsolete_corpus cardiacum" @@ -3448,8 +3447,8 @@ "peripheral nerve injury" "INC-2 cell" "Fragaria x ananassa" - "Head and Neck Paraganglioma" "recombinant 8 syndrome" + "Head and Neck Paraganglioma" "obsolete_campomelic dysplasia" "GC-2" "concentration dose ratio" @@ -3593,15 +3592,15 @@ "history of neurodevelopmental disorder"@en "lymphotoxin-alpha measurement" "neutrophil immunodeficiency syndrome" - "L-Proline measurement" "X-linked intellectual disability, Golabi-Ito-hall type" + "L-Proline measurement" "12q15q21.1 microdeletion syndrome" "adult-onset autosomal dominant demyelinating leukodystrophy" "Behr syndrome" "acetylcholinesterase" "growth phase culture" - "obsolete_intermittent hydrarthrosis" "degeneration of macula and posterior pole" + "obsolete_intermittent hydrarthrosis" "multiple epiphyseal dysplasia type 5" "ubiquitin carboxyl-terminal hydrolase 19" "obsolete hereditary vascular anomaly" @@ -3627,8 +3626,8 @@ "Calcifying Nested Epithelial Stromal Tumor of the Liver" "nucleoside diphosphate kinase B measurement" "level of ubiquitin-conjugating enzyme E2 R2 in blood serum" - "congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome" "obsolete_BA/F3 cell" + "congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome" "band 4.1-like protein 5" "obsolete_Lennox-Gastaut syndrome" "level of Na(+)/H(+) exchange regulatory cofactor NHE-RF1 in blood" @@ -3647,11 +3646,11 @@ "obsolete_lateral cord glia" "tooth agenesis, selective, 7" "thrombophilia" - "lobular capilliary hemangioma"@en "ferulylglycine (1) measurement" + "lobular capilliary hemangioma"@en "congenital tricuspid malformation" - "Bean pod mottle virus" "obsolete_autosomal dominant cerebellar ataxia" + "Bean pod mottle virus" "immune-mediated adverse reaction"@en "level of protein phosphatase methylesterase 1 in blood" "ADP-ribosylation factor 3 measurement" @@ -3660,8 +3659,8 @@ "UPF0729 protein C18orf32" "columella root cap cell" "level of fibronectin type III domain-containing protein 4 in blood" - "purine nucleoside metabolic process" "orchitis" + "purine nucleoside metabolic process" "GM3 synthase deficiency" "level of pikachurin in blood" "level of BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like in blood serum" @@ -3724,8 +3723,8 @@ "Chlamydia trachomatis infectious disease" "obsolete_superior cervical ganglion" "apolipoprotein A-IV measurement" - "dimethyl fumarate" "Phaseolus coccineus" + "dimethyl fumarate" "coated vesicle membrane" "squamous cell carcinoma of rectum" "lung adenocarcinoma in situ" @@ -3769,19 +3768,19 @@ "adrenergic antagonist" "Cranial meningocele" "obsolete_brachyolmia-amelogenesis imperfecta syndrome" - "pityriasis rosea" "deoxycholic acid 3-sulfate measurement" + "pityriasis rosea" "Usher syndrome type 1" "Arabidopsis suecica" "Bile acid synthesis defect with cholestasis and malabsorption" "Macroptilium atropurpureum" "dematin" - "obsolete_isolated congenital ectropion" "carboxypeptidase D" - "Anonychia - onychodystrophy" + "obsolete_isolated congenital ectropion" "S2" "agnosia" "level of triglyceride in blood serum" + "Anonychia - onychodystrophy" "diacylglycerol 36:4 measurement" "TAmC-Seq" "inferior colliculus" @@ -3898,8 +3897,8 @@ "obsolete_myoseptum" "level of multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 in blood serum" "cups of coffee per day measurement" - "Streptomyces coelicolor" "obsolete_Carney triad" + "Streptomyces coelicolor" "1,5 anhydroglucitol measurement" "level of neutrophil defensin 1 (human) in blood serum" "T wave morphology measurement" @@ -3989,10 +3988,10 @@ "Synechococcus sp. CC9311" "interleukin 17 receptor D measurement" "Rickets" + "obsolete_ring chromosome 17" "piperidin-2-one" "partial duplication of the long arm of chromosome 3" "extracellular matrix" - "obsolete_ring chromosome 17" "lymphocyte count" "circulating alpha-Klotho measurement"@en "Golgi transport complex" @@ -4009,12 +4008,12 @@ "mucin-16" "contracture" "Rho-related GTP-binding protein RhoQ" + "angiopoietin-related protein 3 measurement" "hereditary kidney oncocytoma" "myosin regulatory light chain 11" "vimentin-type intermediate filament-associated coiled-coil protein" "Ehlers-Danlos syndrome due to tenascin-X deficiency" "arhinia, choanal atresia, and microphthalmia" - "angiopoietin-related protein 3 measurement" "magnesium measurement" "neurocutaneous syndrome" "184A1 cell" @@ -4159,13 +4158,13 @@ "palmitoyl-linoleoyl-glycerol (16:0/18:2) [1] measurement" "obsolete_Ruvalcaba syndrome" "oxoadipic acid measurement" - "phospholipase B-like 1 measurement" "facial dysmorphism-immunodeficiency-livedo-short stature syndrome" - "Bell's palsy" "cyclin-H" "hypervalinemia and hyperleucine-isoleucinemia" + "Bell's palsy" "Anterior synechiae of the anterior chamber" "phospholipase A and acyltransferase 3" + "phospholipase B-like 1 measurement" "obsolete_multiple endocrine neoplasia type 2A" "obsolete_ganglion" "lipocalin-1" @@ -4266,8 +4265,8 @@ "hemoglobin M disease" "Optic atrophy-intellectual disability syndrome" "single cell nucleic acid sequencing protocol" - "growth arrest and DNA damage-inducible protein GADD45 beta" "Ectopia lentis - chorioretinal dystrophy - myopia" + "growth arrest and DNA damage-inducible protein GADD45 beta" "multifocal dystonia" "level of probable aminopeptidase NPEPL1 in blood serum" "L-Pyroglutamic acid measurement" @@ -4332,8 +4331,8 @@ "oxylipin" "striatonigral degeneration" "hyaluronan mediated motility receptor" - "4-(4-Hydroxyphenyl)-2-butanol" "carpal tunnel syndrome" + "4-(4-Hydroxyphenyl)-2-butanol" "progeroid features-hepatocellular carcinoma predisposition syndrome" "level of SH3 domain-binding glutamic acid-rich-like protein 2 in blood" "MKN28" @@ -4455,11 +4454,11 @@ "Oculomotor palsy" "obsolete_soleus muscle" "functional brain measurement" - "Congenital tracheomalacia" "naproxen" - "Primary glaucoma" + "Congenital tracheomalacia" "olfactory nerve" "level of prosaposin receptor GPR37 in blood" + "Primary glaucoma" "level of N-stearoyltaurine in blood serum" "familial episodic pain syndrome with predominantly lower limb involvement" "interleukin-17 receptor E" @@ -4570,12 +4569,12 @@ "phosphatidylinositol transfer protein beta isoform" "level of transcription factor HES-3 in blood serum" "hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2" - "chronic rhinosinusitis" "uterine corpus epithelioid leiomyoma" "leucine-rich repeat transmembrane protein FLRT2 measurement" "cholesterol-ester transfer protein deficiency" "level of FERM domain-containing protein 7 in blood" "epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive" + "chronic rhinosinusitis" "HiTS-Flip" "Perrault syndrome 1" "age of onset of myopia" @@ -4640,8 +4639,8 @@ "thoracic segment of trunk" "byssinosis" "Peripheral pulmonary artery stenosis" - "obsolete_craniofacial-deafness-hand syndrome" "level of ER membrane protein complex subunit 8 in blood serum" + "obsolete_craniofacial-deafness-hand syndrome" "M426"@en "level of diphosphoinositol polyphosphate phosphohydrolase 3-beta in blood serum" "level of plastin-1 in blood serum" @@ -4649,14 +4648,14 @@ "psychosocial stress measurement" "neural stem cell" "tricuspid valve disease" - "glycochenodeoxycholate 3-sulfate measurement" "Muscle spasm" + "glycochenodeoxycholate 3-sulfate measurement" "Usher syndrome type 2A" "obsolete_21q22.11q22.12 microdeletion syndrome" "obsolete_Neonatal adrenoleukodystrophy" "aconitate(3-)" - "HAUS augmin-like complex subunit 1" "polycythemia due to hypoxia" + "HAUS augmin-like complex subunit 1" "sedative" "level of CD164 sialomucin-like 2 protein in blood" "Ras protein signal transduction" @@ -4686,7 +4685,6 @@ "Familial dyskinesia and facial myokymia" "jasmonates" "congenital absence of both forearm and hand, unilateral" - "Illumina sequencing" "Solexa sequencing assay" "RNA-binding protein 4" "proenkephalin-A" @@ -4712,12 +4710,12 @@ "combined oxidative phosphorylation defect type 8" "lepromatous leprosy" "Capsella rubella" - "N-docosanoyl taurine measurement" "3-hydroxy-5-cholestenoic acid measurement" "sensory nervous system primordium" "metalloreductase STEAP4" "Oliver syndrome" "mitochondrial Rho GTPase 1" + "N-docosanoyl taurine measurement" "sleep" "familial cold autoinflammatory syndrome" "vitelline membrane outer layer protein 1" @@ -4837,9 +4835,9 @@ "mediastinal schwannoma" "hMeDIP-seq" "interleukin-1 beta (Rattus norvegicus)" - "vinculin measurement" "spondylolysis" "Bardet-Biedl syndrome 15" + "vinculin measurement" "retinaldehyde-binding protein 1 measurement" "cortisone reductase deficiency" "obsolete progressive cerebello-cerebral atrophy" @@ -4889,11 +4887,11 @@ "homeostatic process" "Autosomal recessive spastic ataxia - optic atrophy - dysarthria" "46,XY disorder of sex development due to impaired androgen production" + "obsolete_Autosomal recessive chorioretinopathy-microcephaly" "corpus uteri neoplasm" "obsolete_response to homoharringtonine" - "obsolete_Autosomal recessive chorioretinopathy-microcephaly" - "jasmonic acid" "obsolete_dihydropteridine reductase deficiency" + "jasmonic acid" "firmicutes seropositivity" "cocaine abuse" "2-linoleoyl-sn-glycero-3-phosphocholine" @@ -4939,8 +4937,8 @@ "islet cell tumor" "microtubule cytoskeleton" "level of cyclic AMP-responsive element-binding protein 1 in blood" - "hereditary spherocytosis type 3" "level of dihydropyrimidinase-related protein 3 in blood serum" + "hereditary spherocytosis type 3" "multiple epiphyseal dysplasia, with severe proximal femoral dysplasia" "level of enoyl-[acyl-carrier-protein] reductase, mitochondrial in blood" "obsolete_conjunctival epithelium" @@ -5085,8 +5083,8 @@ "olfactomedin-4 measurement" "BENTA disease" "5-hydroxytryptamine receptor 1A" - "bile duct" "level of cell surface glycoprotein MUC18 in blood" + "bile duct" "dual specificity protein phosphatase 6" "Mixed hearing impairment" "interleukin-17 receptor D" @@ -5148,8 +5146,8 @@ "lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome" "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13" "obsolete_familial atrial myxoma" - "obsolete_monocytopenia with susceptibility to infections" "level of palmitoyl-protein thioesterase 1 in blood serum" + "obsolete_monocytopenia with susceptibility to infections" "level of trans-3-hydroxy-L-proline dehydratase in blood serum" "optic cup area measurement" "galactosylceramidase activity" @@ -5217,9 +5215,9 @@ "microcephaly-micromelia syndrome" "polyunsaturated fatty acid lipoxygenase ALOX15B" "Pan troglodytes troglodytes" + "level of (5Z,7E)-(3S)-26,26,26-trifluoro-27-nor-9,10-seco-5,7,10(19)-cholestatriene-3,25-diol in blood serum" "non-POU domain-containing octamer-binding protein" "3-mercaptopyruvate sulfurtransferase" - "level of (5Z,7E)-(3S)-26,26,26-trifluoro-27-nor-9,10-seco-5,7,10(19)-cholestatriene-3,25-diol in blood serum" "Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation" "diacylglycerol 38:3 measurement" "rhizomelic limb shortening with dysmorphic features" @@ -5246,8 +5244,8 @@ "reduced glutathione measurement" "interferon alpha-2 measurement" "level of thiopurine S-methyltransferase in blood serum" - "Small scrotum" "N2-acetyl,N6-methyllysine measurement" + "Small scrotum" "obsolete_Darier disease" "ribonuclease P protein subunit p25" "autosomal recessive Ehlers-Danlos syndrome, vascular type" @@ -5257,9 +5255,9 @@ "AN1-type zinc finger protein 1" "level of dehydrogenase/reductase SDR family member 4 in blood serum" "level of U6 snRNA-associated Sm-like protein LSm3 in blood serum" + "Gonadal dysgenesis, XY type - associated anomalies" "response to oxcarbazepine" "pituitary hormone deficiency, combined, 6" - "Gonadal dysgenesis, XY type - associated anomalies" "diazoxide-resistant focal hyperinsulinism" "cold agglutinin disease" "level of Rho-related GTP-binding protein RhoD in blood serum" @@ -5305,8 +5303,8 @@ "inclusion body myopathy with Paget disease of bone and frontotemporal dementia" "response to lapatinib" "leucine-rich repeat transmembrane protein FLRT3 measurement" - "cystitis" "5,6-dihydroxyindole-2-carboxylic acid oxidase" + "cystitis" "facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome" "tumor necrosis factor receptor superfamily member 3" "age of onset of refractive error" @@ -5425,10 +5423,10 @@ "bleomycin A2" "level of semaphorin-4B in blood serum" "protein LAP4" - "obsolete_rhizomelic dysplasia, Patterson-Lowry type" "COLO 849" - "risk-taking behaviour" + "obsolete_rhizomelic dysplasia, Patterson-Lowry type" "Burkholderia thailandensis" + "risk-taking behaviour" "cirrhosis of liver" "infectious ectromelia" "cutaneous focal mucinosis" @@ -5445,8 +5443,8 @@ "secreted frizzled-related protein 2" "Hs 675.T" "Yersinia infectious disease" - "Vero" "thrombomodulin measurement" + "Vero" "floor plate of neural tube" "vasculature of retina" "mononuclear odontoclast" @@ -5589,10 +5587,10 @@ "interleukin-13 (Homo sapiens)" "vinexin b measurement" "retinoic acid receptor responder protein 1 measurement" + "response to cold medicine" "0 seed germination stage" "acute myeloid leukemia, KIT gene mutation" "beta-1,3-galactosyltransferase 5" - "response to cold medicine" "Ogataea angusta" "14-3-3 protein beta/alpha measurement" "oligogalacturonide" @@ -5624,8 +5622,8 @@ "glucose homeostasis" "obsolete_epidermolytic palmoplantar keratoderma" "level of dihydropyrimidinase-related protein 4 in blood serum" - "maxillary sinus Schneiderian papilloma" "pars interarticularis of vertebra" + "maxillary sinus Schneiderian papilloma" "small ribosomal subunit protein eS10" "partial trisomy of the long arm of chromosome 5" "fulminant type 1 diabetes" @@ -5644,8 +5642,8 @@ "Ect1" "X-21839 measurement" "X-linked dominant hypophosphatemic rickets" - "obsolete_paternal uniparental disomy of chromosome 20" "3q29 microduplication" + "obsolete_paternal uniparental disomy of chromosome 20" "septin-9" "odontogenesis" "Neoplasm of the lung" @@ -5683,8 +5681,8 @@ "response to interferon" "Leber congenital amaurosis 2" "MethylCap-Seq" - "future brain" "obsolete_congenital lactic acidosis, Saguenay-Lac-Saint-Jean type" + "future brain" "Melospiza melodia" "hypospadias" "isolated congenital hypoglossia/aglossia" @@ -5701,9 +5699,9 @@ "esophageal neuroendocrine tumor" "CME-W2" "UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit" + "Lepeophtheirus salmonis" "developmental and epileptic encephalopathy, 83" "obsolete primary hereditary glaucoma" - "Lepeophtheirus salmonis" "obsolete_Gaucher disease" "Postaxial polydactyly of toes, bilateral" "gastrula 80%-epiboly" @@ -5733,8 +5731,8 @@ "pulsed doppler echocardiography" "lower epidermis" "cholesterol to total lipids in large LDL percentage " - "level of RELT-like protein 2 in blood serum" "urine protein measurement" + "level of RELT-like protein 2 in blood serum" "gonad primordium" "3-methyl-2-oxobutyrate measurement" "mitochondrial pyruvate carrier deficiency" @@ -5747,10 +5745,10 @@ "Leucoraja erinacea" "obsolete_Donnai-Barrow syndrome" "Illumina HiSeq 1000 standard manufacturer's protocol" - "encephalomalacia" "level of cyclin-dependent kinase 2-associated protein 1 in blood serum" "Abnormal platelet aggregation" "dextro-looped transposition of the great arteries" + "encephalomalacia" "Salmonella enterica subsp. enterica serovar Kentucky" "CMRF35-like molecule 1" "apocrine sweat gland" @@ -5773,12 +5771,12 @@ "Microcephaly - seizures - intellectual disability - heart disease" "Maxillonasal dysplasia" "acute myeloid leukemia, del(5q31-q32)" - "autosomal recessive hereditary sensory and autonomic neuropathy" - "Abnormal sex determination" "flagellin seropositivity" + "Abnormal sex determination" + "autosomal recessive hereditary sensory and autonomic neuropathy" "proteasome-associated autoinflammatory syndrome 5" - "oleoyl-arachidonoyl-glycerol (18:1/20:4) [2] measurement" "Kilquist syndrome" + "oleoyl-arachidonoyl-glycerol (18:1/20:4) [2] measurement" "aorta" "developmental and epileptic encephalopathy, 45" "sterol biosynthesis disorder" @@ -5813,9 +5811,9 @@ "obsolete_Carpenter-Waziri syndrome" "obsolete_Ehlers-Danlos syndrome type 7B" "thrombin measurement" + "HPDE6-E6E7" "mitochondrial complex IV deficiency, nuclear-type" "Beckwith-Wiedemann syndrome due to imprinting defect of 11p15" - "HPDE6-E6E7" "1-arachidonoyl-sn-glycerol 3-phosphate(2-)" "Arabidopsis arenosa x Arabidopsis thaliana" "rG4-seq" @@ -5891,8 +5889,8 @@ "level of polyglutamine-binding protein 1 in blood serum" "ureter" "diphosphoinositol polyphosphate phosphohydrolase 3-alpha" - "grip strength measurement" "level of TBC1 domain family member 28 in blood serum" + "grip strength measurement" "familial cutaneous collagenoma" "comparative genomic hybridization (CGH)" "obsolete_spinal muscular atrophy" @@ -5999,8 +5997,8 @@ "multifocal choroiditis" "laurate 12:0 measurement" "level of dehydrogenase/reductase SDR family member 9 in blood serum" - "White eyebrow" "level of U6 snRNA-associated Sm-like protein LSm4 in blood serum" + "White eyebrow" "anticonvulsant" "neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction" "3-hydroxyanthranilate 3,4-dioxygenase measurement" @@ -6011,12 +6009,12 @@ "age of onset of narcolepsy-cataplexy syndrome" "level of carbohydrate sulfotransferase 14 in blood serum" "level of adhesion G protein-coupled receptor L3 in blood serum" - "pregnancy-specific beta-1-glycoprotein 8 measurement" "X-linked corneal dermoid" "Bilateral ptosis" + "pregnancy-specific beta-1-glycoprotein 8 measurement" "middle ear adenocarcinoma" - "level of core-binding factor subunit beta in blood serum" "grpE protein homolog 1, mitochondrial measurement" + "level of core-binding factor subunit beta in blood serum" "GM17140" "BD Rhapsody Whole Transcriptome Analysis" "obsolete_stria vascularis" @@ -6088,12 +6086,12 @@ "CD103-negative, langerin-positive lymph node dendritic cell" "Haliotis asinina" "GM12751" + "TC-Seq" "Nager acrofacial dysostosis" "level of 1-(8-[3]-ladderane-octanoyl)-2-(8-[3]-ladderane-octanyl)-sn-glycerol in blood serum" "level of CD99 molecule-like protein 2 in blood" "myopathy, congenital, with respiratory insufficiency and bone fractures" "Caenorhabditis" - "TC-Seq" "betaine--homocysteine S-methyltransferase 2" "chronic lung disease" "level of neurexin-3-alpha in blood" @@ -6110,9 +6108,9 @@ "copy number loss" "obsolete_Moynahan syndrome" "conjunctival scar"@en + "triacylglycerol 56:9 measurement"@en "fetal hemoglobin measurement" "whole plant fruit formation stage 70% to final size" - "triacylglycerol 56:9 measurement"@en "HOSE cell" "imaginal disc" "parathyroid hormone measurement" @@ -6139,8 +6137,8 @@ "J-774A.1" "neuronopathy, distal hereditary motor, type 5C" "myeloid dendritic cell" - "1-pentadecanoyl-2-arachidonoyl-GPC (15:0/20:4) measurement" "SKBR3" + "1-pentadecanoyl-2-arachidonoyl-GPC (15:0/20:4) measurement" "aleutian mink disease" "HRE" "cP-RNA-Seq" @@ -6199,8 +6197,8 @@ "SB 224289 hydrochloride" "RNA-binding Raly-like protein" "obsolete_combined oxidative phosphorylation defect type 7" - "obsolete_generalized peeling skin syndrome type C" "level of myeloid-derived growth factor in blood" + "obsolete_generalized peeling skin syndrome type C" "level of enhancer of filamentation 1 in blood" "obsolete_qualitative or quantitative defects of protein ZASP" "Pseudomonas putida KT2440" @@ -6240,8 +6238,8 @@ "immunodeficiency 19" "olfactomedin-like protein 1" "Charcot-Marie-Tooth disease type 2E" - "TNF-related activation-induced cytokine measurement" "receptor-type tyrosine-protein phosphatase C" + "TNF-related activation-induced cytokine measurement" "Pallister-Hall syndrome" "stationary phase culture" "level of medium-chain acyl-CoA ligase ACSF2, mitochondrial in blood serum" @@ -6321,9 +6319,9 @@ "secreted frizzled-related protein 4" "Drugs affecting bone structure and mineralization use measurement" "interleukin-5 receptor subunit alpha" - "obsolete_frontonasal dysplasia" "Ovarian Leydig Cell Tumor" "Hallux valgus" + "obsolete_frontonasal dysplasia" "obsolete_juvenile Huntington disease" "apical meristem" "intellectual disability, autosomal dominant 41" @@ -6335,8 +6333,8 @@ "p-acetamidophenylglucuronide measurement" "fatty acid synthase" "obsolete_ring chromosome 20" - "autoimmune hemolytic anemia, cold type" "self rated health" + "autoimmune hemolytic anemia, cold type" "level of sulfotransferase 2A1 in blood serum" "Keppen-Lubinsky syndrome" "level of ubiquilin-4 in blood serum" @@ -6358,8 +6356,8 @@ "obsolete_EEC syndrome and related syndrome" "mucopolysaccharidosis type 6, rapidly progressing" "Edema" - "annexin A9" "obsolete_Rosselli-Gulienetti syndrome" + "annexin A9" "muscular dystrophy" "docosahexaenoate" "glucuronide of C19H28O4 (1) measurement" @@ -6376,11 +6374,11 @@ "partial duplication of the long arm of chromosome 6" "Chronic Obstructive Asthma" "obsolete_Leydig cell hypoplasia due to partial LH resistance" - "coiled-coil domain-containing protein 134 measurement" + "obsolete_axial mesodermal dysplasia spectrum" "trunk bone mineral density"@en "Nail dystrophy" + "coiled-coil domain-containing protein 134 measurement" "level of RNA-binding protein Nova-1 in blood serum" - "obsolete_axial mesodermal dysplasia spectrum" "ectodermal dysplasia-sensorineural deafness syndrome" "retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta" "saturated fatty acids to total fatty acids percentage " @@ -6390,8 +6388,8 @@ "uterine ligament mucinous adenocarcinoma" "bMERB domain-containing protein 1" "obsolete_paternal uniparental disomy of chromosome 21" - "Polyneuropathy - intellectual disability - acromicria - premature menopause" "serine protease inhibitor Kazal-type 7" + "Polyneuropathy - intellectual disability - acromicria - premature menopause" "Hypertelorism-microtia-facial clefting syndrome" "serine/threonine-protein phosphatase PP1-gamma catalytic subunit" "3’-end-seq" @@ -6407,9 +6405,9 @@ "n-acetylated-alpha-linked acidic dipeptidase 2 measurement" "HCC0089" "obsolete_filament" + "1,4-dihydro-1-Methyl-4-oxo-3-pyridinecarboxamide measurement" "Simple Cyst of Kidney" "level of mitochondrial potassium channel in blood serum" - "1,4-dihydro-1-Methyl-4-oxo-3-pyridinecarboxamide measurement" "obsolete_distal trisomy 19q" "nasal cavity squamous cell carcinoma" "pseudobulbar palsy" @@ -6433,8 +6431,8 @@ "obsolete_Glycogen storage disease due to LAMP-2 deficiency" "coiled-coil domain-containing protein 149" "WSU-NHL" - "GM11832" "system development" + "GM11832" "waist-hip ratio" "diabetic foot" "IgM memory B cell" @@ -6453,8 +6451,8 @@ "neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures" "omacetaxine mepesuccinate" "Illumina HiSeq 2000 standard manufacturer's protocol" - "level of cyclin-dependent kinase 2-associated protein 2 in blood serum" "Autosomal recessive spastic ataxia with leukoencephalopathy" + "level of cyclin-dependent kinase 2-associated protein 2 in blood serum" "spermatogenic failure 42" "keratoconus" "X-26054 measurement" @@ -6497,13 +6495,13 @@ "obsolete_classic congenital lipoid adrenal hyperplasia due to STAR deficency" "level of reelin in blood serum" "urine glucose measurement" + "obsolete_microcephalic osteodysplastic primordial dwarfism type II" "ribonucleoside metabolic process" "torsion dystonia 4" "3-methyl-2-oxovalerate measurement" "thioredoxin" "Abnormality of chromosome segregation" "fetal akinesia deformation sequence" - "obsolete_microcephalic osteodysplastic primordial dwarfism type II" "R43" "palmitoyl-linoleoyl-glycerol (16:0/18:2) [2] measurement" "zinc finger protein 175 measurement" @@ -6587,8 +6585,8 @@ "chymotrypsin-like elastase family member 2A" "autosomal recessive nonsyndromic hearing loss 18A" "disintegrin and metalloproteinase domain-containing protein 11" - "Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions" "phosphatidylcholine ether measurement"@en + "Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions" "level of Bcl-2-like protein 15 in blood" "level of retinal dehydrogenase 2 in blood serum" "2-oxobutanoate" @@ -6625,9 +6623,9 @@ "tetraploidy syndrome" "sperm" "Leu-Phe" - "loiasis" "level of elongation factor 1-gamma in blood serum" "level of Ras-related protein Rab-7b in blood serum" + "loiasis" "obsolete_liver heptocellular carcinoma" "Lipoma associated with neurospinal dysraphism" "level of translational activator of cytochrome c oxidase 1 in blood serum" @@ -6726,12 +6724,12 @@ "level of lutropin subunit beta in blood serum" "cyanine dye" "Canis lupus" + "GSK3-beta interaction protein measurement" "obsolete_lateral cord surface glia" "immature dermal dendritic cell" "B melanoma antigen 3" "F123-CASTx129" "level of killer cell immunoglobulin-like receptor 2DS2 in blood serum" - "GSK3-beta interaction protein measurement" "tumor necrosis factor measurement"@en "familial partial epilepsy" "Combined immunodeficiency T+ B+ due to partial RAG1 deficiency" @@ -6783,15 +6781,15 @@ "Nitrosomonas europaea" "large-insert clone DNA microarray" "eye neoplasm" + "Genetic 46,XY disorder of sex development of endocrine origin" "obsolete_hereditary site-specific ovarian cancer syndrome" - "muscular dystrophy, limb-girdle, autosomal recessive 27" "mantle cell" - "Genetic 46,XY disorder of sex development of endocrine origin" + "muscular dystrophy, limb-girdle, autosomal recessive 27" "HCC78" "divergent protein kinase domain 1C" + "level of protein Muted in blood serum" "specific developmental disorder" "SW403" - "level of protein Muted in blood serum" "level of guanine deaminase in blood serum" "Congenital ichthyosis - microcephalus - tetraplegia" "Ciliophora infectious disease" @@ -6854,8 +6852,8 @@ "diacylglycerol 38:5 measurement" "CPT-seq" "angiographic measurement" - "SKGT4" "HUVEC cell line" + "SKGT4" "level of campesterol 3-beta-D-glucoside in blood serum" "coiled-coil domain-containing protein 24" "myopathy, congenital proximal, with minicore lesions" @@ -6918,8 +6916,8 @@ "isthmin-2" "level of NEDD8-conjugating enzyme UBE2F in blood serum" "humero-radio-ulnar synostosis, unilateral" - "Glaucoma associated with neural crest cell migration anomaly" "Fusarium avenaceum" + "Glaucoma associated with neural crest cell migration anomaly" "transcription factor IIIb 90 kda subunit measurement" "Tented upper lip vermilion" "sorting nexin-17 measurement" @@ -7303,15 +7301,15 @@ "transient receptor potential cation channel TRPV3" "Sorsby's fundus dystrophy" "Absence of fingerprints - congenital milia" - "obsolete_Wolf-Hirschhorn syndrome" "obsolete_Hunter-McAlpine craniosynostosis" + "obsolete_Wolf-Hirschhorn syndrome" + "blood pressure change measurement" "homocitrate(1-)" "level of protein regulator of cytokinesis 1 in blood serum" "Insulin resistance" "Toriello-Carey syndrome" "Cutaneous abscess" "level of tryptase alpha/beta-1 in blood serum" - "blood pressure change measurement" "obsolete_primary bone dysplasia with disorganized development of skeletal components" "eosinophilic promyelocyte" "whole-brain volume" @@ -7422,8 +7420,8 @@ "level of ubiquitin-protein ligase E3A in blood serum" "congenitally uncorrected transposition of the great arteries with cardiac malformation" "obsolete_ringed hair disease" - "chitotriosidase deficiency"@en "eosinophilic myelocyte" + "chitotriosidase deficiency"@en "level of RING finger protein 141 in blood serum" "AN1-type zinc finger protein 3" "HPL1E" @@ -7504,8 +7502,8 @@ "epithelial cell of thymus" "GM17137" "obsolete_carnosinemia" - "sexual behavior" "level of Kazal-type serine protease inhibitor domain-containing protein 1 in blood" + "sexual behavior" "HCC827" "SW48" "Burkholderia cepacia" @@ -7557,8 +7555,8 @@ "obsolete_dorsal telencephalon" "cytokine SCM-1 beta" "cataract 16 multiple types" - "1-methylurate anion" "pyelocystitis" + "1-methylurate anion" "epididymal secretory protein E1 measurement" "developmental and epileptic encephalopathy, 13" "childhood central nervous system primitive neuroectodermal neoplasm" @@ -7597,11 +7595,11 @@ "pulmonary embolism" "obsolete_artery" "Helicoverpa armigera" - "obsolete congenital muscular dystrophy without intellectual disability" "style" + "obsolete congenital muscular dystrophy without intellectual disability" "American"@en - "nongerminomatous germ cell tumor" "Narrow naris" + "nongerminomatous germ cell tumor" "partial duplication of the long arm of chromosome 17" "idiopathic central precocious puberty" "interferon lambda-2 measurement" @@ -7613,11 +7611,11 @@ "enterococcus phage virus seropositivity" "Adult-onset autosomal recessive cerebellar ataxia" "HWESASLLR measurement" + "transposition" "endothelial cell-specific chemotaxis regulator" "obsolete neurodevelopmental disorder with brain, liver, and lung abnormalities" - "transposition" - "BRCA1-A complex subunit Abraxas 1" "coiled-coil-helix-coiled-coil-helix domain-containing protein 7" + "BRCA1-A complex subunit Abraxas 1" "gamma-aminobutyric acid type B receptor subunit 2 measurement" "X-22776 measurement" "autosomal recessive spastic paraplegia type 78" @@ -7657,9 +7655,9 @@ "perceptual disorders" "Early-onset ataxia with dementia" "prealbumin measurement" - "Mantle cell lymphoma" "level of ketohexokinase in blood" "pollination" + "Mantle cell lymphoma" "concentration of large LDL particles measurement" "Ichthyosis - oral and digital anomalies" "obsolete_muscular lipidosis" @@ -7731,9 +7729,9 @@ "Abnormality of the anus" "protein S100-A5" "tremor, hereditary essential, 6" + "Erdheim-Chester disease" "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB measurement" "level of carcinoembryonic antigen-related cell adhesion molecule 19 in blood serum" - "Erdheim-Chester disease" "Intellectual disability - balding - patella luxation - acromicria" "level of hypoxanthine-guanine phosphoribosyltransferase in blood serum" "adult acute respiratory distress syndrome" @@ -7748,8 +7746,8 @@ "octadecadienedioate (C18:2-DC) measurement" "C8161.9 cell" "EMG: neuropathic changes" - "GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes" "level of semaphorin-4G in blood serum" + "GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes" "CS57771" "Dihomo-linoleate (20:2n6)" "Increased bone mineral density" @@ -7760,8 +7758,8 @@ "HCC2185" "level of four and a half LIM domains protein 1 in blood serum" "centromere protein F" - "Anilide use measurement" "drosophila developmental stage" + "Anilide use measurement" "Streptococcus thermophilus" "Modic type vertebral endplate changes" "mitochondrial fission 1 protein" @@ -7883,13 +7881,13 @@ "X-linked non-syndromic intellectual disability" "Vertigo" "lethal(3)malignant brain tumor-like protein 2" - "Fusarium solani" "Ichthyosis associated with ocular features" + "Fusarium solani" "acyl-coenzyme A thioesterase 8" "IgA memory B cell" "concentration of medium VLDL particles" - "Premature ejaculation" "level of alpha-actinin-1 in blood serum" + "Premature ejaculation" "level of glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 in blood" "ubiquitin-conjugating enzyme E2 L3 measurement" "isolated growth hormone deficiency type IB" @@ -7898,9 +7896,9 @@ "level of 13-hydroxyoctadecadienoic acid in blood plasma" "level of EH domain-binding protein 1 in blood serum" "hereditary sensory and autonomic neuropathy with spastic paraplegia" + "obsolete_congenital unilateral hypoplasia of depressor anguli oris" "V-type proton ATPase subunit C 1" "level of spermatogenesis-associated protein 24 in blood serum" - "obsolete_congenital unilateral hypoplasia of depressor anguli oris" "soluble transferrin receptor measurement" "level of prominin-1 in blood serum" "all-trans-retinol dehydrogenase [NAD(+)] ADH1B" @@ -8013,8 +8011,8 @@ "Lactobacillus helveticus CNRZ32" "thyroid ectopia" "Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA" - "Duodenal Gastrin-Producing Neuroendocrine Tumor" "Guttmacher syndrome" + "Duodenal Gastrin-Producing Neuroendocrine Tumor" "dental pulp exposure" "phosphatidylcholine O-32:2" "disintegrin and metalloproteinase domain-containing protein 15" @@ -8032,8 +8030,8 @@ "obsolete_symptomatic form of hemophilia A in female carriers" "titin measurement" "neutrophil progenitor cell" - "hypoxanthine guanine phosphoribosyltransferase partial deficiency" "PR interval" + "hypoxanthine guanine phosphoribosyltransferase partial deficiency" "manganese molecular entity" "signal-regulatory protein beta-2 measurement" "kidney pelvis sarcomatoid transitional cell carcinoma" @@ -8042,9 +8040,9 @@ "nuclear factor NF-kappa-B p105 subunit" "carotid-femoral pulse wave velocity" "ubiquitin-conjugating enzyme E2 T measurement" - "level of ubiquitin-conjugating enzyme E2 E3 in blood serum" "sialic acid-binding Ig-like lectin 8" "fatty acid oxidation" + "level of ubiquitin-conjugating enzyme E2 E3 in blood serum" "eccrine sweat gland" "level of arginase-2, mitochondrial in blood" "transcription factor 4" @@ -8070,16 +8068,16 @@ "pleckstrin" "cholesterol to total lipids in medium LDL percentage " "carotid artery central pulse pressure measurement" - "microgram per gram body weight" "Acute kidney injury" + "microgram per gram body weight" "MEC2" "cysticercosis" "trait in response to vancomycin" "chronic hip pain"@en "obsolete_UMUC3" + "3-hydroxyanthranilic acid measurement"@en "opportunistic mycosis" "otoraplin" - "3-hydroxyanthranilic acid measurement"@en "Drosophila developmental tissue" "isolated hereditary congenital facial paralysis" "symphalangism" @@ -8137,8 +8135,8 @@ "cerebral cortex volume measurement"@en "infancy electroclinical syndrome" "urea transporter 2" - "laryngeal tuberculosis" "LHCN-M2" + "laryngeal tuberculosis" "adult central nervous system embryonal carcinoma" "RIL-seq" "obsolete_astrocytic tumor" @@ -8177,8 +8175,8 @@ "DMS79" "carboxypeptidase B2 measurement" "melanocytic neoplasm" - "level of protein phosphatase 1 regulatory subunit 3G in blood serum" "HLA allele carrier status"@en + "level of protein phosphatase 1 regulatory subunit 3G in blood serum" "West Nile fever" "motor neuron and pancreas homeobox protein 1" "obsolete_tooth 4V" @@ -8192,8 +8190,8 @@ "level of breakpoint cluster region protein in blood" "neoplasm of neck" "asparaginase activity measurement" - "congenital bile acid synthesis defect 2" "ileal neoplasm" + "congenital bile acid synthesis defect 2" "Delayed fine motor development" "extragonadal germinoma" "obsolete microblepharon-ablephara syndrome" @@ -8272,8 +8270,8 @@ "same-sex sexual behavior" "hypertrophic cardiomyopathy 9" "coumarin" - "alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase" "T cell activation" + "alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase" "uracil" "Tonsillar Squamous Cell Carcinoma" "nucleolar protein 56" @@ -8321,8 +8319,8 @@ "obsolete_Haim-Munk syndrome" "obsolete_congenital primary aphakia" "Birk-Barel syndrome" - "PWWP domain-containing DNA repair factor 3A" "level of ubiquitin-like protein 3 in blood serum" + "PWWP domain-containing DNA repair factor 3A" "1,3-dimethylurate anion" "Endocarditis" "infantile cerebellar-retinal degeneration" @@ -8348,13 +8346,13 @@ "obsolete_Stickler syndrome type 2" "obsolete_familial reactive perforating collagenosis" "obsolete_cibarium primordium" - "level of killer cell immunoglobulin-like receptor 3DL1 in blood serum" "metastatic malignant neoplasm in the colon" "oropharyngeal anthrax" + "level of killer cell immunoglobulin-like receptor 3DL1 in blood serum" "GM19025" "GTP-binding protein Di-Ras3 measurement" - "ExSeq" "root epidermis" + "ExSeq" "central nervous system organ benign neoplasm" "developmental and epileptic encephalopathy, 61" "RNA polymerase II subunit A C-terminal domain phosphatase SSU72" @@ -8454,8 +8452,8 @@ "level of asporin in blood serum" "obsolete_cryptogenic late-onset epileptic spasms" "eicosenoyl sphingomyelin measurement" - "2-stearoyl-GPE (18:0) measurement" "Premature eruption of permanent teeth" + "2-stearoyl-GPE (18:0) measurement" "combined carcinoid and adenocarcinoma" "kynureninase measurement" "3-hydroxysebacate" @@ -8574,8 +8572,8 @@ "intermediate severe Salla disease" "Caffey disease" "triglycerides to total lipids in large HDL percentage " - "mitochondrial complex I deficiency" "46,XY partial gonadal dysgenesis" + "mitochondrial complex I deficiency" "level of transmembrane protein 106A in blood serum" "chromosome 17q12 duplication syndrome" "level of 40S ribosomal protein S14 in blood serum" @@ -8584,8 +8582,8 @@ "MCCAR" "cadherin-related family member 1 measurement" "bilateral frontal polymicrogyria" - "level of sarcoplasmic reticulum histidine-rich calcium-binding protein in blood serum" "obsolete_progressive non-infectious anterior vertebral fusion" + "level of sarcoplasmic reticulum histidine-rich calcium-binding protein in blood serum" "distal tubule" "ichthyosis histrix, Lambert type" "epidemic louse-borne typhus" @@ -8600,8 +8598,8 @@ "45,X/46,XY mixed gonadal dysgenesis" "Methanobacteria" "fatty acid-binding protein, epidermal measurement" - "3P-Seq" "3q27.3 microdeletion syndrome" + "3P-Seq" "B10.NOD_H2g7_Idd3" "pelvic varices" "level of EH domain-containing protein 1 in blood serum" @@ -8673,8 +8671,8 @@ "isolated hyperferritinemia" "campestanol" "response to bronchodilator" - "Ovarian Sclerosing Stromal Tumor" "congenital sucrase-isomaltase deficiency without sucrose intolerance" + "Ovarian Sclerosing Stromal Tumor" "Solanum pimpinellifolium" "level of nucleosome assembly protein 1-like 1 in blood serum" "Actinobacillus infectious disease" @@ -8770,8 +8768,8 @@ "central nervous system angiosarcoma" "membrane primary amine oxidase" "2-Aminoethanesulfonic acid measurement" - "idiopathic anterior uveitis" "obsolete_immunodeficiency due to selective anti-polysaccharide antibody deficiency" + "idiopathic anterior uveitis" "acquired factor XI deficiency" "axial mesodermal dysplasia spectrum" "Neonatal acute respiratory distress with surfactant metabolism deficiency" @@ -8814,10 +8812,10 @@ "Pili torti - onychodysplasia" "metabolite measurement" "ubiquitin-like modifier-activating enzyme ATG7 measurement" + "C-C motif chemokine 13 measurement" "3-hydroxyphenylacetic acid measurement"@en "level of Diacylglycerol (16:0_18:1) in blood serum" "Drosophila component" - "C-C motif chemokine 13 measurement" "Estimated Platelets Measurement" "nuclear nucleic acid-binding protein C1D" "obsolete_response to paliperidone" @@ -8840,13 +8838,13 @@ "sodium-independent sulfate anion transporter" "cholesterol to total lipids in medium VLDL percentage " "hepatotoxicity" - "obsolete_mevalonic aciduria" "dietary vitamin B1 intake measurement" "progressive multifocal leukoencephalopathy" "alanyl-tRNA editing protein Aarsd1" "level of DnaJ homolog subfamily C member 18 in blood serum" - "levulinate 4-oxovalerate measurement" + "obsolete_mevalonic aciduria" "nucleus accumbens-associated protein 1" + "levulinate 4-oxovalerate measurement" "protein disulfide-isomerase TXNDC10" "progressive pseudorheumatoid arthropathy of childhood" "obsolete_fructose-1,6-bisphosphatase deficiency" @@ -8856,12 +8854,12 @@ "T4b tumor stage" "lethal occipital encephalocele-skeletal dysplasia syndrome" "obsolete_narcolepsy with cataplexy" - "Xeroderma pigmentosum complementation group A" "Bromus inermis" + "Xeroderma pigmentosum complementation group A" "chronic shoulder pain"@en "L-Asparagine anhydrous measurement" - "level of sphingomyelin phosphodiesterase in blood" "obsolete_methylmalonic acidemia with homocystinuria, type cblX" + "level of sphingomyelin phosphodiesterase in blood" "immunoglobulin complex" "level of microphthalmia-associated transcription factor in blood serum" "thiamine-responsive dysfunction syndrome" @@ -8872,9 +8870,9 @@ "small intestine neuroendocrine tumor, well differentiated, low or intermediate grade" "obsolete interaction with host via secreted substance" "childhood electroclinical syndrome" + "obsolete_partial deletion of the short arm of chromosome 2" "sperm-associated antigen 11B" "obsolete Heimler syndrome" - "obsolete_partial deletion of the short arm of chromosome 2" "OCI-LY3" "ABCA4-related retinopathy" "RNA-Seq" @@ -9053,15 +9051,15 @@ "GM19043" "obsolete disorder of lipid absorption and transport" "congenital stromal corneal dystrophy" - "inherited macular dystrophy"@en "oculoauriculovertebral spectrum with radial defects" + "inherited macular dystrophy"@en "neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination" "trochanter" "Blepharophimosis - epicanthus inversus - ptosis due to a point mutation" "obsolete_vein" + "tympanic membrane disease" "T+ B+ severe combined immunodeficiency" "kazrin" - "tympanic membrane disease" "Paracoccidioides brasiliensis" "Stickler syndrome type 1" "gonococcal iridocyclitis" @@ -9122,8 +9120,8 @@ "Ichthyosis - hepatosplenomegaly - cerebellar degeneration" "leukocyte adhesion deficiency 3" "ribonucleoside-diphosphate reductase subunit M2 B" - "streptococcus pneumoniae discitis" "peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome" + "streptococcus pneumoniae discitis" "urothelial papilloma" "DNA-binding protein RFX5" "RECON progeroid syndrome" @@ -9131,8 +9129,8 @@ "supravalvular aortic stenosis" "fasudil hydrochloride" "obsolete_Madras motor neuron disease" - "Increased susceptibility to fractures" "neural cell adhesion molecule 2 measurement" + "Increased susceptibility to fractures" "obsolete_familial thoracic aortic aneurysm and aortic dissection" "obsolete isolated punctate palmoplantar keratoderma" "level of elongin-B in blood" @@ -9144,19 +9142,19 @@ "HERV-H LTR-associating protein 2 measurement" "CDK-activating kinase assembly factor MAT1" "1-linoleoylglycerol (18:2) measurement" - "obsolete_congenital contractural arachnodactyly" "phosphatidylcholine diacyl C40:5 measurement" "benzoate measurement" - "tropical spastic paraparesis" + "obsolete_congenital contractural arachnodactyly" "level of arylsulfatase K in blood serum" "level of Phosphatidylinositol (18:1_18:1) in blood serum" + "tropical spastic paraparesis" "Theiler stage 19" - "level of sperm equatorial segment protein 1 in blood" "level of progonadoliberin-2 in blood serum" - "level of amyloid beta precursor like protein 1 in blood" + "level of sperm equatorial segment protein 1 in blood" "prominin-1" - "level of tether containing UBX domain for GLUT4 in blood serum" + "level of amyloid beta precursor like protein 1 in blood" "level of nucleolysin TIAR in blood serum" + "level of tether containing UBX domain for GLUT4 in blood serum" "level of transcription cofactor vestigial-like protein 4 in blood serum" "cornea squamous cell carcinoma" "level of sulfotransferase 4A1 in blood serum" @@ -9195,10 +9193,10 @@ "level of mesoderm development candidate 2 in blood serum" "level of phosphatidylinositol" "level of phospholipase A and acyltransferase 3 in blood serum" - "Palpitations" "Geospiza conirostris" "strabismus, susceptibility to" "GM14478" + "Palpitations" "Neutrophilic Metamyelocyte Count" "Ovarian Transitional Cell Carcinoma" "obsolete Y chromosome number anomaly" @@ -9212,8 +9210,8 @@ "infective vaginitis" "carcinoma ex pleomorphic adenoma" "CL1-0 cell" - "obsolete_LAMB2-related infantile-onset nephrotic syndrome" "retinal cell" + "obsolete_LAMB2-related infantile-onset nephrotic syndrome" "obsolete_hypothyroidism due to deficient transcription factors involved in pituitary development or function" "Camptodactyly" "right aortic arch" @@ -9232,8 +9230,8 @@ "fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies" "Cheilitis" "digestive system infectious disorder" - "exosome complex component RRP43" "level of acidic fibroblast growth factor intracellular-binding protein in blood serum" + "exosome complex component RRP43" "rectocele" "amelogenesis imperfecta type 1" "skeletal age"@en @@ -9328,10 +9326,10 @@ "anti-hepatitis E virus antibody measurement" "obsolete MSH3-related attenuated familial adenomatous polyposis" "transcription factor HES-5" + "Abnormal circulating serine family amino acid concentration" "level of NudC domain-containing protein 2 in blood serum" "level of 40S ribosomal protein S19 in blood serum" "dystroglycan 1" - "Abnormal circulating serine family amino acid concentration" "neoplasm of endocardium" "myelinating Schwann cell" "chloride intracellular channel protein 1 measurement" @@ -9383,9 +9381,9 @@ "Portal vein thrombosis" "N-acetylgalactosamine-4-sulfatase activity" "1A2" - "obsolete_alobar holoprosencephaly" "protein kinase c alpha type measurement" "level of nucleosome assembly protein 1-like 2 in blood serum" + "obsolete_alobar holoprosencephaly" "hypogonadotropic hypogonadism-frontoparietal alopecia syndrome" "dracunculiasis" "fructose-2,6-bisphosphatase TIGAR" @@ -9393,8 +9391,8 @@ "testis-specific serine/threonine-protein kinase 1" "level of glutamate receptor ionotropic, kainate 2 in blood serum" "leiomodin-2" - "Ras-related protein Rab-43" "Ferroglobus placidus" + "Ras-related protein Rab-43" "C38:7 phosphatidylethanolamine plasmalogen measurement" "Erysipelothrix rhusiopathiae infectious disease" "terminal transverse defects of arm" @@ -9442,13 +9440,13 @@ "Apis cerana" "lysosome-associated membrane glycoprotein 2" "obsolete_ring chromosome 6" - "capillary" "obsolete_upper thoracic spina bifida aperta" + "capillary" "level of thioredoxin-like protein 1 in blood" "level of unique cartilage matrix-associated protein in blood serum" "obsolete_congenital myopathy with internal nuclei and atypical cores" - "X-11497 measurement" "obsolete_aortic arch" + "X-11497 measurement" "obsolete_aromatase deficiency" "white matter integrity" "Lactobacillus sanfranciscensis" @@ -9495,15 +9493,15 @@ "autosomal dominant cerebellar ataxia type II" "Splenogonadal fusion - limb defects - micrognathia" "total lipids in lipoprotein particles measurement " - "obsolete_metaphyseal anadysplasia" "clinical ideal cardiovascular health" "Geranium dissectum" + "obsolete_metaphyseal anadysplasia" "diphthine methyl ester synthase" "partial duplication of the short arm of chromosome 19" "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency" "RNA binding protein fox-1 homolog 1" - "response to ximelagatran" "obsolete_odonto-onycho-dermal dysplasia" + "response to ximelagatran" "hemangioma of gingiva" "synpolydactyly type 1" "X-linked diffuse leiomyomatosis - Alport syndrome" @@ -9527,11 +9525,11 @@ "glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1" "level of Ipurolic acid in blood serum" "5637" - "level of beta-soluble NSF attachment protein in blood serum" "obsolete_paroxysmal dystonia" + "level of beta-soluble NSF attachment protein in blood serum" + "integrin alpha-5 measurement" "vascular neoplasm" "peroxisomal coenzyme A diphosphatase NUDT7" - "integrin alpha-5 measurement" "obsolete_familial pancreatic carcinoma" "fructose-bisphosphate aldolase B" "acheiropody" @@ -9616,10 +9614,10 @@ "Iridovirus" "obsolete_fucosidosis" "obsolete_X-linked non-syndromic sensorineural deafness type DFN" + "obsolete_acrogeria" "zona pellucida sperm-binding protein 4 measurement" "Tis" "familial temporal lobe epilepsy 5" - "obsolete_acrogeria" "nuclear receptor coactivator 7" "heterogeneous nuclear ribonucleoprotein D-like" "ACPA-positive rheumatoid arthritis" @@ -9660,8 +9658,8 @@ "level of Kunitz-type protease inhibitor 3 in blood serum" "Peliosis Hepatis" "Arthroderma benhamiae" - "waist height ratio" "NCI-H226" + "waist height ratio" "X-16580 measurement" "obsolete_pharynx structure" "bladder urothelial papilloma" @@ -9686,8 +9684,8 @@ "Early infantile epileptic encephalopathy without suppression burst" "level of follistatin-related protein 4 in blood serum" "obsolete disorder of genitourinary system" - "R-warfarin measurement" "tRNA wybutosine-synthesizing protein 5" + "R-warfarin measurement" "acroosteolysis-keloid-like lesions-premature aging syndrome" "biliary tree" "Rap guanine nucleotide exchange factor 1" @@ -9705,13 +9703,13 @@ "Intellectual disability, severe" "neuroligin-1 measurement" "celastrol" - "Congenital dyserythropoietic anemia type I" "level of enoyl-CoA Delta isomerase 1, mitochondrial in blood serum" "thymoma type A" - "obsolete_familial restrictive cardiomyopathy" "1-[(4Z,7Z,10Z,13Z,16Z)-docosapentaenoyl]-sn-glycero-3-phosphocholine" + "Congenital dyserythropoietic anemia type I" "germplasm" "bleomycin" + "obsolete_familial restrictive cardiomyopathy" "torus lateralis" "cortical blindness-intellectual disability-polydactyly syndrome" "level of G0/G1 switch protein 2 in blood serum" @@ -9736,8 +9734,8 @@ "tinea unguium" "1-eicosapentaenoyl-GPE (20:5) measurement" "MYH9-related disease" - "ecotropic viral integration site 5 protein" "paralemmin-2 (human)" + "ecotropic viral integration site 5 protein" "inactive tyrosine-protein kinase 7" "level of nuclear transport factor 2 in blood serum" "level of epidermal growth factor-like protein 6 in blood serum" @@ -9777,9 +9775,9 @@ "4-methylhexanoylglutamine measurement" "reproductive system cell" "CS57807" - "Tracheal Carcinoma" "Charcot-Marie-Tooth disease axonal type 2C" "phenol red" + "Tracheal Carcinoma" "Ly-76 high positive erythrocyte" "protein canopy homolog 4" "contact dermatitis" @@ -9799,8 +9797,8 @@ "cobblestone lissencephaly" "X-16935 measurement" "level of parvalbumin alpha in blood" - "trisomy 18" "level of Ala-Leu in blood" + "trisomy 18" "obsolete_atypical glycine encephalopathy" "Kazal-type serine protease inhibitor domain-containing protein 1" "Alopecia universalis" @@ -9837,8 +9835,8 @@ "CD25-positive, CD27-positive immature gamma-delta T cell" "methylglutaconyl-CoA hydratase, mitochondrial" "alpha-soluble NSF attachment protein measurement" - "History of recent insect bite" "triglycerides to total lipids in very large VLDL percentage " + "History of recent insect bite" "sideroblastic anemia 3" "obsolete_blood vessel" "autism" @@ -9955,13 +9953,13 @@ "Atrophy/Degeneration affecting the central nervous system" "neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy" "Karenia brevis" - "Paralysis" "adenylosuccinate synthetase isozyme 2 measurement" + "Paralysis" "nervous system cancer" "level of sphingomyelin" - "Ovarian Tumor of the Thecoma/Fibroma Group" "nephronophthisis 3" "short stature-wormian bones-dextrocardia syndrome" + "Ovarian Tumor of the Thecoma/Fibroma Group" "Neutrophilic Myelocyte Count" "Janus kinase and microtubule-interacting protein 3" "Flattened epiphysis" @@ -9984,8 +9982,8 @@ "filaggrin gene expression measurement"@en "meningococcal meningitis" "renal tuberculosis" - "fibroblastic disorder" "Autosomal recessive dopa-responsive dystonia" + "fibroblastic disorder" "Boran cattle" "memory B cell" "level of dual specificity protein phosphatase 3 in blood" @@ -9994,8 +9992,8 @@ "Humero-radial synostosis" "milliliter per liter" "level of proline-serine-threonine phosphatase-interacting protein 2 in blood" - "Malignant Germ Cell Tumor" "midline glial cell" + "Malignant Germ Cell Tumor" "fas apoptotic inhibitory molecule 3 measurement" "glycogen storage disease XV" "lysophosphatidylcholine 16:0 measurement"@en @@ -10056,9 +10054,9 @@ "obsolete constitutional dyserythropoietic anemia" "band 3 anion transport protein" "Bardet-Biedl syndrome 4" + "Spinal Cord Ischemia" "Mowat-Wilson syndrome due to monosomy 2q22" "sphingomyelin (d18:1/25:0, d19:0/24:1, d20:1/23:0, d19:1/24:0) measurement" - "Spinal Cord Ischemia" "fibrinogen gamma chain measurement" "adrenal medulla chromaffin cell" "izumo sperm-egg fusion protein 1" @@ -10133,8 +10131,8 @@ "obsolete_16p11.2p12.2 microduplication syndrome" "MORN repeat-containing protein 4" "smooth surface dental caries" - "sepal" "level of polyunsaturated fatty acid lipoxygenase ALOX15B in blood serum" + "sepal" "obsolete_hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency" "hereditary spastic paraplegia 23" "vitamin D dietary intake measurement" @@ -10182,8 +10180,8 @@ "cortisol secretion measurement" "acidic leucine-rich nuclear phosphoprotein 32 family member A measurement" "Odonto-onycho dysplasia - alopecia" - "level of Ras-related protein Rab-23 in blood serum" "Bardet-Biedl syndrome 7" + "level of Ras-related protein Rab-23 in blood serum" "small EDRK-rich factor 2" "obsolete_Treacher-Collins syndrome" "anaphase-promoting complex subunit CDC26" @@ -10234,10 +10232,10 @@ "level of C-type lectin domain family 6 member A in blood serum" "ski-like protein measurement" "X-12906 measurement" + "obsolete_pulmonary sclerosing hemangioma" "Wiskott-Aldrich syndrome" "cytosolic 5'-nucleotidase 1A" "level of Diacylglycerol (16:1_18:1) in blood serum" - "obsolete_pulmonary sclerosing hemangioma" "C-C motif chemokine 24 measurement" "facial morphology measurement" "C1GALT1-specific chaperone 1" @@ -10287,19 +10285,19 @@ "level of secretoglobin family 1D member 2 in blood serum" "Hepatomegaly" "glycoprotein metabolic process" - "Autosomal dominant hyper-IgE syndrome" "OCI-M1" + "Autosomal dominant hyper-IgE syndrome" "C-type lectin domain family 4 member D measurement" - "adenosquamous breast carcinoma" "hypoplastic left heart syndrome 1" + "adenosquamous breast carcinoma" "acquired coagulation factor deficiency" "obsolete_vertical myoseptum" "CREB-binding protein measurement" "obsolete_CAMOS syndrome" "level of urocortin-3 in blood serum" "level of disheveled-associated activator of morphogenesis 1 in blood" - "dystonia 21" "protein FAM50A" + "dystonia 21" "obsolete organonitrogen compound metabolic process" "disease" "protein-tyrosine sulfotransferase 1" @@ -10445,8 +10443,8 @@ "WAP four-disulfide core domain protein 3" "Marbach-Schaaf neurodevelopmental syndrome" "pigmentary glaucoma"@en - "obsolete hereditary ATTR amyloidosis" "primary dental caries" + "obsolete hereditary ATTR amyloidosis" "5,6,7,8-tetrahydrobiopterin" "obsolete_Prenatal benign hypophosphatasia" "hepatic sinusoid" @@ -10461,15 +10459,15 @@ "ovarian mucinous neoplasm" "Fc receptor-like protein 6" "E3 ubiquitin-protein ligase RNF34 measurement" - "X-16938 measurement" "pseudorabies" "DNA dC->dU-editing enzyme APOBEC-3G" + "X-16938 measurement" "8-(3-chlorostyryl)caffeine" "adipose tissue derived mesenchymal stem cell" "respiratory gaseous exchange by respiratory system" + "obsolete_Pelizaeus-Merzbacher disease" "Parkinsonism" "level of peripheral plasma membrane protein CASK in blood serum" - "obsolete_Pelizaeus-Merzbacher disease" "acute myeloid leukemia, Monosomy 7" "obsolete_congenital primary megaureter, nonrefluxing and unobstructed form" "Meckel syndrome, type 3" @@ -10485,18 +10483,19 @@ "pulmonary artery-aorta diameter ratio measurement" "lissencephaly type 3-familial fetal akinesia sequence syndrome" "peak insulin response measurement" + "socioeconomic status"@en "Spinocerebellar ataxia with axonal neuropathy type 2" "papaverine" "Abnormal blood zinc concentration" "corpus callosum anterior volume measurement"@en "neuronal pentraxin-2" "protein Dr1" - "CB1 cannabinoid receptor-interacting protein 1" "experimental arthritis" - "NAD-seq" + "CB1 cannabinoid receptor-interacting protein 1" "reproductive system disorder, non-human animal" "RNET-seq" "Golgi apparatus" + "NAD-seq" "Ginkgo biloba" "obsolete_Immunodeficiency due to an early component of complement deficiency" "obsolete_young adult-onset distal hereditary motor neuropathy" @@ -10548,8 +10547,8 @@ "obsolete_SELEX" "Butyrivibrio proteoclasticus B316" "level of leukocyte immunoglobulin-like receptor subfamily A member 5 in blood serum" - "acylphosphatase-2 measurement" "ossification anomalies-psychomotor developmental delay syndrome" + "acylphosphatase-2 measurement" "nanomole" "level of calcium and integrin-binding protein 1 in blood serum" "level of cullin-associated NEDD8-dissociated protein 1 in blood serum" @@ -10599,10 +10598,10 @@ "cadherin-4" "obsolete_hereditary stomatocytosis" "isoleucine measurement" + "protein s100-a9 measurement" "level of Golgi membrane protein 1 in blood serum" "Fc receptor-like B" "benign meningioma" - "protein s100-a9 measurement" "level of von Hippel-Lindau-like protein in blood serum" "level of Rho guanine nucleotide exchange factor TIAM2 in blood serum" "zinc finger protein 696" @@ -10613,8 +10612,8 @@ "Charcot-Marie-Tooth disease type 5" "response to cyclophosphamide" "developmental malformations-deafness-dystonia syndrome" - "level of formylglycine-generating enzyme in blood serum" "microtubule-associated protein tau measurement" + "level of formylglycine-generating enzyme in blood serum" "Macrostomia - preauricular tags - external ophthalmoplegia" "glutathione synthetase deficiency with 5-oxoprolinuria" "tetracyclic antidepressant" @@ -10646,10 +10645,10 @@ "middle ear cancer" "obsolete_macrocephaly-autism syndrome" "obsolete_Von Willebrand disease type 3" - "Sclerodermatomyositis" "Ovarian Yolk Sac Tumor" "Waardenburg syndrome, IIa 2F" "limb bone" + "Sclerodermatomyositis" "obsolete_type I diabetes mellitus" "obsolete_ataxia neuropathy spectrum" "primary hyperoxaluria" @@ -10662,8 +10661,8 @@ "NCI-H716" "left ventricular diastolic function measurement" "obsolete_fleck corneal dystrophy" - "appendix neuroendocrine neoplasm" "obsolete_syndromic keratoconus" + "appendix neuroendocrine neoplasm" "obsolete_posttemporal" "essential strabismus" "obsolete Chitotriosidase deficiency" @@ -10846,12 +10845,12 @@ "petal" "chronic gastritis" "hereditary spastic paraplegia 5A" - "beta-arrestin-1" "obsolete_aspartylglucosaminuria" + "beta-arrestin-1" "obsolete_coronory artery calcification" "tyrosol 4-sulfate measurement" - "total parenteral nutrition" "aortic arch defects" + "total parenteral nutrition" "3-hydroxy-1-methylpropylmercapturic acid measurement" "uncharacterized protein KIAA1143" "GM07034" @@ -10930,12 +10929,12 @@ "classical monocyte" "obsolete_X-linked intellectual disability due to GRIA3 anomalies" "level of nuclear receptor ROR-gamma in blood serum" + "obsolete_secondary polycythemia" "A673" "level of protein lin-7 homolog A in blood serum" "level of EH domain-containing protein 4 in blood serum" - "obsolete_secondary polycythemia" - "bone tissue" "acquired lactic acidosis" + "bone tissue" "respiratory process" "obsolete_Summitt syndrome" "level of Sterol ester (27:1/17:0) in blood serum" @@ -10987,8 +10986,8 @@ "TATA-binding protein-associated factor 2N" "Klebsiella infectious disease" "level of serine/threonine-protein kinase WNK1 in blood serum" - "DAP-seq" "HG02763" + "DAP-seq" "obsolete_atelosteogenesis type II" "obsolete_combined immunodeficiency with skin granulomas" "Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia" @@ -11131,13 +11130,13 @@ "obsolete_benign Samaritan congenital myopathy" "pharyngeal squamous cell carcinoma" "level of endophilin-B1 in blood serum" - "X-linked intellectual disability - cardiomegaly - congestive heart failure" "level of cell surface hyaluronidase in blood" "monoblast" - "perinatal jaundice due to hepatocellular damage" + "X-linked intellectual disability - cardiomegaly - congestive heart failure" "glypican-2 measurement" "insulin secretion measurement" "Streptococcus sp. 'group A'" + "perinatal jaundice due to hepatocellular damage" "obsolete intellectual disability-expressive aphasia-facial dysmorphism syndrome" "short stature, oligodontia, dysmorphic facies, and motor delay" "tyrosinemia type III" @@ -11176,10 +11175,10 @@ "fatty acid-binding protein, liver measurement" "spermatogenic failure 25" "musculoskeletal toxicity" + "X-16944 measurement" "pulmonary blastoma" "2-hydroxy-3-methylbutyrate" "level of interleukin-1 alpha in blood serum" - "X-16944 measurement" "Spondylocarpotarsal synostosis" "level of Ras-related protein Rab-10 in blood" "endosialin" @@ -11216,9 +11215,9 @@ "familial partial lipodystrophy" "level of 2-hydroxyacyl-CoA lyase 1 in blood serum" "Peptic ulcer perforation" - "metronidazole measurement" "obsolete_Huntington's disease" "NCI-H2347" + "metronidazole measurement" "Tc17 cell" "gist882" "spinal muscular atrophy with congenital bone fractures 1" @@ -11320,9 +11319,9 @@ "obsolete_Alport syndrome" "chromosome 16 trisomy" "obsolete_autosomal recessive palmoplantar keratoderma and congenital alopecia" + "Submandibular Gland Adenoid Cystic Carcinoma" "retinitis pigmentosa 93" "Brassica rapa" - "Submandibular Gland Adenoid Cystic Carcinoma" "parietal lobe volume measurement" "obsolete_guanidinoacetate methyltransferase deficiency" "ovarian clear cell malignant adenofibroma" @@ -11348,8 +11347,8 @@ "lacrimal gland adenocarcinoma" "putative uncharacterized protein TXNRD3NB" "benign neoplasm of heart" - "obsolete_autosomal recessive limb-girdle muscular dystrophy type 2I" "episodic ataxia type 2" + "obsolete_autosomal recessive limb-girdle muscular dystrophy type 2I" "obsolete_Monosomy 13q14" "fetal genotype effect measurement" "acute laryngitis" @@ -11397,8 +11396,8 @@ "histone H1x measurement" "PFSK-1" "level of palmdelphin in blood serum" - "beta-Pseudouridine measurement" "Infundibulopelvic stenosis - multicystic kidney" + "beta-Pseudouridine measurement" "MLE-15" "adipocyte" "obsolete_congenital absence of thigh and lower leg with foot present" @@ -11454,7 +11453,6 @@ "level of methyltransferase-like protein 11A in blood serum" "DNA dC->dU-editing enzyme APOBEC-3G measurement" "electroneutral sodium bicarbonate exchanger 1" - "phosphatidylcholine diacyl C42:1 measurement" "caspase-8 measurement" "level of protein S100-A8 in blood serum" "Precursor Plasma Cell Count" @@ -11462,6 +11460,7 @@ "non-infectious anterior uveitis" "Porphyromonas gingivalis" "blistering, acantholytic, of oral and laryngeal mucosa" + "phosphatidylcholine diacyl C42:1 measurement" "level of interferon alpha-1/13 in blood serum" "2-hydroxyacetaminophen sulfate measurement" "Pro-Hyp" @@ -11582,8 +11581,8 @@ "tumor necrosis factor receptor II measurement" "morning glory syndrome" "lysophosphatidylethanolamine" - "obsolete_atypical hemolytic-uremic syndrome with anti-factor H antibodies" "ependymal tumor of spinal cord" + "obsolete_atypical hemolytic-uremic syndrome with anti-factor H antibodies" "blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome" "fibroblast growth factor 10 measurement" "MOGS-congenital disorder of glycosylation" @@ -11615,10 +11614,10 @@ "obsolete_epispadias" "hindlimb stylopod" "chronic acquired demyelinating polyneuropathy" - "cholesteryl ester 24:1 measurement" "vulva sarcoma" "Ras-related protein Rab-5A" "level of PDZ domain-containing protein GIPC2 in blood serum" + "cholesteryl ester 24:1 measurement" "Mseek" "Progressive supranuclear palsy - corticobasal syndrome" "apolipoprotein L3" @@ -11705,12 +11704,12 @@ "swine influenza" "benign neoplasm of submandibular gland" "obsolete_amelia of lower limb" - "Caldicellulosiruptor lactoaceticus" "otopalatodigital syndrome type 2" "intrahepatic bile duct cystadenoma" "obsolete_thyroid" "CTP synthase 1" "self vs self design" + "Caldicellulosiruptor lactoaceticus" "KH domain-containing RNA-binding protein QKI" "RERF-LC-KJ" "lung adenoid cystic carcinoma" @@ -11720,8 +11719,8 @@ "level of S-adenosylmethionine sensor upstream of mTORC1 in blood serum" "obsolete_tooth" "Odontomatosis - aortae esophagus stenosis" - "total early-onset cataract" "obsolete_Normosmic congenital hypogonadotropic hypogonadism" + "total early-onset cataract" "CL-40" "oocyte maturation defect 9" "CS57625" @@ -11752,9 +11751,9 @@ "level of FK506-binding protein-like in blood" "central nervous system development" "octadecanoate" + "finishing sequencing assay" "Drosophila santomea" "geography-based population category"@en - "finishing sequencing assay" "Clostridium butyricum" "endoplasmin" "Abnormal circulating glucose-6-phosphate dehydrogenase concentration" @@ -11818,9 +11817,9 @@ "obsolete_long chain 3-hydroxyacyl-CoA dehydrogenase deficiency" "syntenin-1" "diquat" + "Developmental delay - deafness, Hildebrand type" "level of calsequestrin-2 in blood serum" "Increased blood urea nitrogen" - "Developmental delay - deafness, Hildebrand type" "acute myeloid leukemia, Trisomy 8" "Unilateral aplasia of the Müllerian ducts" "sphingomyeline C16:0 measurement" @@ -11830,8 +11829,8 @@ "inborn disorder of amino acid and other organic acid metabolism" "susceptibility to shingles measurement" "1-carboxyethyltyrosine measurement" - "leukoplakia of gingiva" "obsolete_atelosteogenesis type III" + "leukoplakia of gingiva" "level of Rab11 family-interacting protein 3 in blood" "fibular hemimelia, unilateral" "glypican-3 measurement" @@ -11851,8 +11850,8 @@ "level of inositol polyphosphate-4-phosphatase type I A in blood serum" "Oryza longistaminata" "level of LysM and putative peptidoglycan-binding domain-containing protein 4 in blood serum" - "atrial septal defect 1" "LysoPE 18:1 measurement" + "atrial septal defect 1" "appendix mucinous cystadenocarcinoma" "leucine-rich repeat-containing protein 4C measurement" "malate(2-)" @@ -11925,10 +11924,10 @@ "level of AP-4 complex subunit mu-1 in blood serum" "Lysosomal disease with restrictive cardiomyopathy" "spermatogenic failure 40" + "minosaminomycin measurement" "probable dimethyladenosine transferase" "toxoplasmosis" "ovarian clear cell cystadenocarcinoma" - "minosaminomycin measurement" "obsolete_atresia of urethra" "obsolete_axial vasculature" "7-methylguanine measurement" @@ -12090,10 +12089,10 @@ "femtomole" "tooth and nail syndrome" "choroidal dystrophy, central areolar 2" - "lung disease associated with cystic fibrosis" "LP.04 four leaves visible stage" "POLR3-related leukodystrophy" "acne" + "lung disease associated with cystic fibrosis" "level of pituitary adenylate cyclase-activating polypeptide type I receptor in blood" "myosin regulatory light chain 12B" "cholesteryl ester" @@ -12145,8 +12144,8 @@ "thiopurine methyltransferase activity measurement" "phosphatidylcholine diacyl C42:2 measurement" "2-methoxyacetaminophen sulfate measurement" - "Illumina Genome Analyzer IIx" "level of Golgi phosphoprotein 3-like in blood serum" + "Illumina Genome Analyzer IIx" "polidocanol" "Ras-related protein Rab-2A" "angle-closure glaucoma" @@ -12171,10 +12170,10 @@ "vesicle-associated membrane protein 3 measurement" "meningitis caused by poliovirus" "obsolete_posterior lateral plate mesoderm" - "level of X antigen family member 2 in blood serum" "Vigna unguiculata subsp. unguiculata" - "gallbladder lymphoma" + "level of X antigen family member 2 in blood serum" "Hydroureter" + "gallbladder lymphoma" "hyperplasia" "level of tRNA N(3)-methylcytidine methyltransferase METTL2B in blood serum" "pharyngeal pouches 2-6" @@ -12208,12 +12207,12 @@ "14-3-3 protein eta" "Pyrococcus furiosus DSM 3638" "2-palmitoyl-GPC (16:0) measurement" - "orbit sarcoma" "testicular disease" + "orbit sarcoma" "level of neurogenin-3 in blood serum" - "level of BTB/POZ domain-containing protein KCTD1 in blood serum" "Bandrowski's base" "asporin" + "level of BTB/POZ domain-containing protein KCTD1 in blood serum" "Synostosis - microcephaly - scoliosis" "obsolete_autosomal recessive primary microcephaly" "Fc receptor-like protein 5 measurement" @@ -12264,8 +12263,8 @@ "Malignant Mesothelioma" "epiplakin" "obsolete_ATR-X-related syndrome" - "Cubital Tunnel Syndrome" "response to interferon-beta" + "Cubital Tunnel Syndrome" "pro-neuregulin-3, membrane-bound isoform" "skin aging" "brain structure developmental tissue" @@ -12314,20 +12313,20 @@ "DNA excision repair protein ERCC-1 measurement" "keratosis follicularis-dwarfism-cerebral atrophy syndrome" "alcohol-induced mental disorder" - "obsolete_juvenile polyposis of infancy" "lipoma of the rectum" + "obsolete_juvenile polyposis of infancy" "Brachydactyly - long thumb" "erythroid neoplasm" "level of BTB/POZ domain-containing protein KCTD15 in blood serum" "microscopic colitis" "Early onset absence seizures" "Bowing of the long bones" - "enterocele"@en "blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome" - "level of endothelial lipase in blood serum" - "level of EP300-interacting inhibitor of differentiation 3 in blood serum" + "enterocele"@en "protein-tyrosine phosphatase mitochondrial 1" "multinodular goiter" + "level of endothelial lipase in blood serum" + "level of EP300-interacting inhibitor of differentiation 3 in blood serum" "laryngotracheoesophageal cleft" "bronchoconstriction" "obsolete_partial deletion of chromosome 5" @@ -12401,10 +12400,10 @@ "smooth muscle cell" "transient tyrosinemia of the newborn" "level of cartilage oligomeric matrix protein in blood" + "obsolete_glycerol kinase deficiency, adult form" "retina" "lichen sclerosus et atrophicus" "Protein-losing enteropathy" - "obsolete_glycerol kinase deficiency, adult form" "adrenergic uptake inhibitor" "Burkholderia glumae" "triacylglycerol 52:6" @@ -12442,8 +12441,8 @@ "isolated focal cortical dysplasia" "obsolete_partial duplication of chromosome 10" "optic disc measurement" - "CD94-negative, Ly49CI-negative natural killer cell, mouse" "erythema palmare hereditarium" + "CD94-negative, Ly49CI-negative natural killer cell, mouse" "stria vascularis of cochlear duct" "ischemia reperfusion injury" "polyadenylate-binding protein 4 measurement" @@ -12514,9 +12513,9 @@ "Microblepharon - ablephara" "long term hematopoietic stem cell" "ACHN" - "obsolete_multiple epiphyseal dysplasia type 4" "sphingomyeline C16:1 measurement" "mitochondrial complex III deficiency" + "obsolete_multiple epiphyseal dysplasia type 4" "occular toxicity"@en "obsolete_Seckel syndrome" "obsolete_split hand, unilateral" @@ -12552,8 +12551,8 @@ "level of drebrin in blood" "Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells" "neurotoxicity" - "obsolete rare disease with dentinogenesis imperfecta" "induced pluripotent stem cell" + "obsolete rare disease with dentinogenesis imperfecta" "pili bifurcati" "cataract 5 multiple types" "level of dermokine in blood serum" @@ -12592,8 +12591,8 @@ "apparent mineralocorticoid excess syndrome" "autosomal recessive limb-girdle muscular dystrophy type 2I" "ubiquitin carboxyl-terminal hydrolase 4" - "obsolete_partial duplication of the long arm of chromosome 14" "obsolete_brachydactyly type A4" + "obsolete_partial duplication of the long arm of chromosome 14" "N-methylpipecolate measurement" "Illumina native qseq format" "level of protein FAM221A in blood serum" @@ -12614,9 +12613,9 @@ "combined oxidative phosphorylation deficiency 48" "viral conjunctivitis" "tracheitis" - "positive regulation of gastric acid secretion" "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4" "polyp of middle ear" + "positive regulation of gastric acid secretion" "level of pancreatic lipase-related protein 2 in blood serum" "carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 1" "gallbladder angiosarcoma" @@ -12660,9 +12659,9 @@ "retinol-binding protein 4 measurement" "tiglylcarnitine (C5:1-DC) measurement" "bleeding disorder, platelet-type, 24" + "fructose 6-phosphate" "level of galectin-related protein in blood serum" "heme oxygenase 1 deficiency" - "fructose 6-phosphate" "ring chromosome 16" "eukaryotic translation initiation factor 3 subunit G measurement" "survival time" @@ -12703,11 +12702,11 @@ "obsolete_Distal monosomy 10q" "obsolete_X-linked intellectual disability, Brooks type" "obsolete_bilateral parasagittal parieto-occipital polymicrogyria" - "obsolete_frontal encephalocele" "proteasome-associated autoinflammatory syndrome 3" - "Gastric Hamartomatous Polyp" + "obsolete_frontal encephalocele" "level of 2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial in blood serum" "medial collateral ligament" + "Gastric Hamartomatous Polyp" "myelomeningocele" "juvenile idiopathic arthritis" "Escherichia coli O157:H7 str. EDL933" @@ -12783,13 +12782,14 @@ "methylsuccinate measurement" "obsolete_classic lissencephaly" "trafficking protein particle complex subunit 3" + "Recurrent infections-myelofibrosis-nephromegaly syndrome" + "obsolete_congenital absence of both forearm and hand" "N-phosphotaurocyamine measurement" "adolescent/adult-onset epilepsy syndrome" "Primary amenorrhea" "Avulavirus infectious disease" - "obsolete_congenital absence of both forearm and hand" - "heparanase" "Blepharophimosis-intellectual disability syndrome, Verloes type" + "heparanase" "X-linked intellectual disability - epilepsy" "TBY-2" "epithelioid sarcoma" @@ -12797,7 +12797,6 @@ "Hyperkeratosis" "Aneurysm, False" "level of protein LTO1 homolog in blood" - "Recurrent infections-myelofibrosis-nephromegaly syndrome" "obsolete_orofaciodigital syndrome type 12" "level of transcription factor MafG in blood serum" "level of ephrin type-A receptor 8 in blood serum" @@ -12854,9 +12853,9 @@ "embryonic Malpighian tubule tip cell" "level of neutral amino acid transporter A in blood" "ATC Code P Antiparasitic products, insecticides and repellents" + "obsolete_spondylometaphyseal dysplasia, Schmidt type" "oleamide" "serous cystadenocarcinoma" - "obsolete_spondylometaphyseal dysplasia, Schmidt type" "level of kelch-like protein 41 in blood serum" "familial hyperaldosteronism type III" "Lassa virus Josiah" @@ -12907,9 +12906,9 @@ "calcium-binding and coiled-coil domain-containing protein 1" "Spina bifida occulta" "jugular body" + "obsolete_acromesomelic dysplasia" "X-14658 measurement" "parp inhibitor response" - "obsolete_acromesomelic dysplasia" "ADP-ribose pyrophosphatase, mitochondrial measurement" "kidney cell" "level of DNA-binding protein inhibitor ID-1 in blood serum" @@ -12965,8 +12964,8 @@ "clear cell" "Bm4 B cell" "obsolete_Autosomal dominant Charcot-Marie-Tooth disease type 2G" - "NT2/D1" "tyrosine-protein kinase ZAP-70 measurement" + "NT2/D1" "level of pantothenate kinase 1 in blood serum" "mosaic trisomy 22" "Penicillium corylophilum" @@ -12993,8 +12992,8 @@ "obsolete_caudal ganglionic eminence" "vitamin E measurement" "level of procollagen C-endopeptidase enhancer 1 in blood serum" - "acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome" "mitochondrial antiviral-signaling protein" + "acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome" "obsolete_response to mercaptopurine" "protein phosphatase inhibitor 2" "neurodevelopmental disorder with speech delay and variable ocular anomalies" @@ -13003,8 +13002,8 @@ "bullous pemphigoid" "complement component C1q receptor" "Skin rash" - "blepharophimosis-epicanthus inversus-ptosis due to copy number variations" "obsolete_Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency" + "blepharophimosis-epicanthus inversus-ptosis due to copy number variations" "fibroblast growth factor 16 measurement" "X-21467 measurement"@en "level of Bcl-2-modifying factor in blood serum" @@ -13038,8 +13037,8 @@ "Abnormal ciliary motility" "aortic valve disease" "Craniosynostosis - fibular aplasia" - "hydroxytetradecenoylcarnitine measurement" "Kimura disease" + "hydroxytetradecenoylcarnitine measurement" "cholesteryl ester 24:5 measurement" "colchicine" "HIV-1 infection" @@ -13156,8 +13155,8 @@ "chronic rhinitis" "obsolete aortic malformation" "obsolete_Activated PIK3-delta syndrome" - "cleavage 32-cell" "Caliciviridae infectious disease" + "cleavage 32-cell" "lormetazepam measurement" "peroxisome biogenesis disorder 14B" "leucine-rich repeat-containing protein 59" @@ -13173,10 +13172,10 @@ "classic maple syrup urine disease" "craniofacial-deafness-hand syndrome" "CITE-seq (cell surface protein profiling)" + "obsolete_20p12.3 microdeletion syndrome" "PFHR 9" "primary erythermalgia" "obsolete_myelodysplastic syndrome (MDS)-like" - "obsolete_20p12.3 microdeletion syndrome" "polycomb protein SCMH1 measurement" "level of sideroflexin-5 in blood serum" "Chin with horizontal crease" @@ -13207,8 +13206,8 @@ "MALBAC" "Arg-Phe" "pimeloylcarnitine/3-methyladipoylcarnitine (C7-DC) measurement" - "lysophosphatidylethanolamine 18:0" "CB184" + "lysophosphatidylethanolamine 18:0" "obsolete_vitamin B12-responsive methylmalonic acidemia, type cblDv2" "natural cytotoxicity triggering receptor 3 ligand 1" "tyrosine-protein phosphatase non-receptor type 1" @@ -13241,8 +13240,8 @@ "obsolete_coloboma of eye lens" "acromesomelic dysplasia 3" "AA amyloidosis" - "serine protease inhibitor Kazal-type 13 measurement" "PEO6" + "serine protease inhibitor Kazal-type 13 measurement" "UMI Method" "facioscapulohumeral muscular dystrophy 4, digenic" "spondylocostal dysostosis-hypospadias-intellectual disability syndrome" @@ -13309,8 +13308,8 @@ "concentration of chylomicrons and extremely large VLDL particles measurement " "9-HODE" "part per billion" - "level of regulator of G-protein signaling 4 in blood serum" "obsolete generalized isolated dystonia" + "level of regulator of G-protein signaling 4 in blood serum" "cytotoxic T cell" "quinone oxidoreductase-like protein 1 measurement" "1-pentadecanoyl-GPC (15:0) measurement" @@ -13356,10 +13355,10 @@ "cecum adenocarcinoma" "YTH domain-containing family protein 3" "Julidochromis transcriptus" - "obsolete_trisomy 8p" "Illumina native scarf format" "level of protein notum in blood serum" "Clostridium difficile" + "obsolete_trisomy 8p" "ferulic acid 4-sulfate measurement" "GM17802" "time series design" @@ -13370,8 +13369,8 @@ "level of peptidyl-prolyl cis-trans isomerase FKBP1B in blood" "Pharmacotherapy" "Severe failure to thrive" - "1-margaroyl-2-arachidonoyl-GPC (17:0/20:4) measurement" "Hyperammonemia due to N-acetylglutamate synthetase deficiency" + "1-margaroyl-2-arachidonoyl-GPC (17:0/20:4) measurement" "MARIO" "viral pneumonia" "level of dyslexia-associated protein KIAA0319-like protein in blood serum" @@ -13468,8 +13467,8 @@ "Brassica oleracea var. alboglabra" "large ribosomal subunit protein uL1m" "level of N-gondoylethanolamine in blood serum" - "polyneuropathy" "anterior lateral line ganglion" + "polyneuropathy" "WGA-X" "dihydropyrimidinase-related protein 1" "Calcium channel blocker use measurement" @@ -13528,9 +13527,9 @@ "dermatitis herpetiformis" "beta-defensin 121" "level of integrin beta-5 in blood" + "obsolete_presumptive dorsal mesoderm" "meckel syndrome 14" "iris disorder" - "obsolete_presumptive dorsal mesoderm" "Exercise-induced muscle cramps" "suppressor of cytokine signaling 3 measurement" "partial trisomy/tetrasomy of the short arm of chromosome 18" @@ -13579,8 +13578,8 @@ "mammary gland cell line" "Look-Seq" "level of fibroblast growth factor 8 in blood serum" - "extraembryonic cell" "fibroblast growth factor 9 measurement" + "extraembryonic cell" "obsolete_partial deletion of chromosome 7" "Posterior Leukoencephalopathy Syndrome" "level of alpha-amylase 2A in blood" @@ -13628,7 +13627,6 @@ "hypertrophic cardiomyopathy" "Nijmegen breakage syndrome" "normalization data transformation"@en - "normalization data transformation" "Caldicellulosiruptor saccharolyticus" "obsolete_congenital fibrosis of extraocular muscles" "RNA-binding protein with multiple splicing" @@ -13642,10 +13640,10 @@ "obsolete_CEMC1" "benign neoplasm of retina" "NCI-H810" - "obsolete_posterior corneal dystrophy" "leukocyte immunoglobulin-like receptor subfamily B member 1 measurement" "obsolete_congenital enterocyte heparan sulfate deficiency" "5'-nucleotidase measurement" + "obsolete_posterior corneal dystrophy" "dorsal longitudinal anastomotic vessel" "obsolete congenital trochlear nerve palsy" "N,N-dimethylalanine measurement" @@ -13654,8 +13652,8 @@ "obsolete_neurodegeneration with brain iron accumulation" "serine protease 27 measurement" "leukocyte count" - "level of plexin-B1 in blood" "choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome" + "level of plexin-B1 in blood" "malignant epithelial tumor of salivary glands" "level of COP9 signalosome complex subunit 2 in blood serum" "obsolete primary short bowel syndrome" @@ -13666,8 +13664,8 @@ "sotalol" "level of nuclear factor of activated T-cells, cytoplasmic 4 in blood serum" "level of proteasome subunit alpha type-7 in blood serum" - "response to biological dust exposure" "fetal and adult testis-expressed transcript protein measurement" + "response to biological dust exposure" "anophthalmia-microphthalmia syndrome" "calcium-binding and coiled-coil domain-containing protein 2" "5-oxoproline measurement" @@ -13743,9 +13741,9 @@ "skin sensitization"@en "asymmetric dimethylarginine measurement"@en "FTH1-related iron overload" + "pik3ca related overgrowth spectrum" "Pulmonary artery atresia" "splenic marginal zone macrophage" - "pik3ca related overgrowth spectrum" "level of thyrotropin subunit beta in blood" "4-[3-(4-tert-butylphenyl)-2-methylpropyl]-2,6-dimethylmorpholine" "cartilage element of chondrocranium" @@ -13764,14 +13762,14 @@ "level of gastric inhibitory polypeptide in blood serum" "volumetric brain MRI" "DNA polymerase iota measurement" - "level of procollagen C-endopeptidase enhancer 2 in blood serum" "intracranial hemangioma" + "level of procollagen C-endopeptidase enhancer 2 in blood serum" "mucinous cystadenofibroma" "protein max" - "obsolete_dorsal metathoracic disc" "obsolete_mandibulofacial dysostosis" - "probable ATP-dependent RNA helicase DDX23" + "obsolete_dorsal metathoracic disc" "knee peak torque measurement" + "probable ATP-dependent RNA helicase DDX23" "4-acetaminophen sulfate measurement" "level of BTB/POZ domain-containing protein KCTD3 in blood serum" "CHAND syndrome" @@ -13792,8 +13790,8 @@ "HMEC184" "eukaryotic translation elongation factor 1 epsilon-1" "diabetes mellitus biomarker" - "1-palmitoyl-GPE (16:0) measurement" "potassium channel regulatory protein" + "1-palmitoyl-GPE (16:0) measurement" "phosphatidylcholine 34:5 measurement" "Auriculoocular anomalies - cleft lip" "Rajab interstitial lung disease with brain calcifications 2" @@ -13815,9 +13813,9 @@ "obsolete_camptodactyly of fingers" "level of lithostathine-1-beta in blood serum" "lipocalin-1 measurement" - "10x 5' v3"@en "ichthyosis-intellectual disability-dwarfism-renal impairment syndrome" "coelomocyte" + "10x 5' v3"@en "HLA class II histocompatibility antigen, DQ alpha 2 chain measurement" "X-linked recessive hereditary axonal motor and sensory neuropathy" "cytochrome c oxidase subunit 6C measurement" @@ -13891,8 +13889,8 @@ "Ly49H-positive natural killer cell, mouse" "129S/SvEv"@en "antiphospholipid syndrome" - "sialic acid-binding Ig-like lectin 10 measurement" "lung cancer" + "sialic acid-binding Ig-like lectin 10 measurement" "level of apolipoprotein C-I in blood serum" "G402" "raphe magnus" @@ -13951,10 +13949,10 @@ "obsolete autosomal monosomy" "mitochondrial complex IV deficiency, nuclear type 23" "Griscelli disease type 2" + "obsolete_episodic ataxia type 7" "Endometrial Undifferentiated Carcinoma" "corticoliberin measurement" "short-rib thoracic dysplasia 21 without polydactyly" - "obsolete_episodic ataxia type 7" "alpha-tocopherol" "oncocytic neoplasm" "obsolete_Atypical Mayer-Rokitansky-Küster-Hauser syndrome" @@ -14020,9 +14018,9 @@ "(1R2R)-3-(12-dihydro-2-hydroxy-1-naphthalenyl)thio-2-oxopropanoic acid measurement" "glutathione hydrolase activity" "obsolete_disorder of copper metabolism" + "obsolete_anophthalmia plus syndrome" "Abnormality of the immune system" "chymotrypsin-like elastase family member 1" - "obsolete_anophthalmia plus syndrome" "level of homologous-pairing protein 2 in blood serum" "acylphosphatase-2" "plant trait" @@ -14064,8 +14062,8 @@ "GM17281" "benign neoplasm of maxillary sinus" "obsolete_brachydactyly type A2" - "Illumina native fastq format" "obsolete_partial deletion of the short arm of chromosome 8" + "Illumina native fastq format" "sialolithiasis" "membrane protein FAM174B measurement" "GM17803" @@ -14088,16 +14086,16 @@ "flufenamic acid" "Brugada syndrome 8" "childhood parosteal osteosarcoma" - "oxidised LDL" "male reproductive organ cancer" + "oxidised LDL" "obsolete_Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency" "dysostosis, Stanescu type" - "obsolete_mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis" "Gastrointestinal angiodysplasia" - "protein arginine N-methyltransferase 3 measurement" + "obsolete_mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis" "optic rim area measurement" - "NS-0" + "protein arginine N-methyltransferase 3 measurement" "chromosome 5Q14.3 deletion syndrome, distal" + "NS-0" "primary familial polycythemia due to EPO receptor mutation" "polypeptide N-acetylgalactosaminyltransferase 1 measurement" "level of serine/threonine-protein kinase Sgk1 in blood serum" @@ -14110,12 +14108,12 @@ "cecum carcinoma" "Tall stature - scoliosis - macrodactyly of the great toes" "scavenger receptor cysteine-rich domain-containing group B protein" - "filamin-related bone disorder" "obsolete_tetrasomy 5p" + "filamin-related bone disorder" "obsolete_tubular aggregate myopathy" + "APOE carrier status" "congenital disorder of deglycosylation 1" "interleukin-13" - "APOE carrier status" "spinal cord lateral wall" "level of hydroxymethylglutaryl-CoA synthase, cytoplasmic in blood serum" "response to intravenous immunoglobulin therapy" @@ -14127,10 +14125,10 @@ "level of mitotic checkpoint serine/threonine-protein kinase BUB1 in blood serum" "1-methylimidazoleacetate measurement" "prostate cancer staging" - "obsolete_Brugada syndrome" "MARS-seq" "visna" "level of carnosine N-methyltransferase in blood serum" + "obsolete_Brugada syndrome" "level of sarcolemmal membrane-associated protein in blood" "level of thymidine kinase 2, mitochondrial in blood serum" "Autosomal recessive spastic paraplegia type 55" @@ -14146,16 +14144,16 @@ "obsolete_pyruvate dehydrogenase E1-alpha deficiency" "pseudouridine measurement" "GM17791" - "erysipelas" "H4" - "eukaryotic translation initiation factor 4B measurement" + "erysipelas" "pentose acid measurement" "hearing loss, autosomal dominant 80" "lysosomal cobalamin transporter ABCD4" "HCC193" "SW1353" - "MEL-HO" "5'(3')-deoxyribonucleotidase, mitochondrial" + "eukaryotic translation initiation factor 4B measurement" + "MEL-HO" "PDA1" "long QT syndrome 3" "otosclerosis" @@ -14236,9 +14234,9 @@ "level of doublesex- and mab-3-related transcription factor C2 in blood serum" "obsolete_47,XYY syndrome" "level of phytanoyl-CoA hydroxylase-interacting protein in blood serum" + "obsolete_true unicornuate uterus" "Böök syndrome" "docking protein 1" - "obsolete_true unicornuate uterus" "obsolete_Osteochondrosis" "subaortic stenosis-short stature syndrome" "mediator of RNA polymerase II transcription subunit 1 measurement" @@ -14332,8 +14330,8 @@ "obsolete_1p21.3 microdeletion syndrome" "aniridia-cerebellar ataxia-intellectual disability syndrome" "coxsackievirus seropositivity" - "adult malignant hemangiopericytoma" "neuroblastoma, susceptibility to, 1" + "adult malignant hemangiopericytoma" "X-23780 measurement" "autoinflammation with episodic fever and lymphadenopathy" "chromosome 4 disorder" @@ -14472,8 +14470,8 @@ "obsolete_lethal omphalocele-cleft palate syndrome" "myocardial zonula adherens protein measurement" "obsolete_Marie Unna hereditary hypotrichosis" - "breast cancer cell line" "obsolete_Coffin-Siris syndrome" + "breast cancer cell line" "m1A mapping" "obsolete_common mesentery" "Preauricular pit" @@ -14494,11 +14492,11 @@ "Illumina MiSeq" "Dirofilaria immitis" "valacyclovir hydrolase" + "obsolete_Tumoral calcinosis" "CD276 molecule" "Ras-related protein Rab-31" - "Antenatal intracerebral hemorrhage" "neurodegeneration, childhood-onset, with cerebellar atrophy" - "obsolete_Tumoral calcinosis" + "Antenatal intracerebral hemorrhage" "acetyl-CoA acetyltransferase, cytosolic" "inverted urothelial papilloma" "obsolete_Dent disease" @@ -14559,8 +14557,8 @@ "Macacine herpesvirus 3" "Cowden disease" "Ameloblastic Carcinoma" - "surfactant protein D measurement" "extrahepatic bile duct mucinous adenocarcinoma" + "surfactant protein D measurement" "obsolete_Machado-Joseph disease type 2" "level of cadherin-related family member 3 in blood serum" "serine/threonine-protein kinase 17B measurement" @@ -14587,8 +14585,8 @@ "palmitoleoyl-linoleoyl-glycerol (16:1/18:2) [1] measurement" "obsolete_bent bone dysplasia" "Congenital disorder of glycosylation with intestinal involvement" - "X-24546 measurement" "level of transmembrane protein 237 in blood serum" + "X-24546 measurement" "obsolete_abdomen" "obsolete_childhood apraxia of speech" "phosphoenolpyruvate carboxykinase [GTP], mitochondrial" @@ -14714,8 +14712,8 @@ "HapMap haplotype mapping" "brain cortex volume measurement"@en "NG Capture-C" - "growth/differentiation factor 11 measurement" "pharyngeal endoderm" + "growth/differentiation factor 11 measurement" "prefoldin subunit 4" "lateral dorsal aorta" "X-24556 measurement" @@ -14730,10 +14728,10 @@ "glottis" "RT-112" "response to carboplatin" - "Theiler stage 11" "1-methylnicotinamide measurement"@en - "peanut allergic reaction" + "Theiler stage 11" "Neurodevelopmental disorder"@en + "peanut allergic reaction" "desmin" "colon lymphoma" "aldrin measurement"@en @@ -14821,8 +14819,8 @@ "hypersensitivity pneumonitis, familial" "X-12798-to-phenylalanine ratio" "MATQ-seq" - "B cell derived cell line" "vulvovaginal candidiasis" + "B cell derived cell line" "congenital hematological disorder" "level of protein MENT in blood serum" "oleoyl-oleoyl-glycerol (18:1/18:1) [2] measurement" @@ -14949,9 +14947,9 @@ "retinal arterial tortuosity" "oligoastrocytic tumor" "abnormal vaginal discharge itching" - "adult-onset Still's disease" "autosomal recessive non-syndromic intellectual disability" "RKO" + "adult-onset Still's disease" "GM19240" "level of WAP four-disulfide core domain protein 3 in blood serum" "helicoid peripapillary chorioretinal degeneration" @@ -15053,11 +15051,11 @@ "neoplasm of minor salivary gland" "photoreceptor cell" "autosomal recessive optic atrophy" - "obsolete_stromal cell of lamina propria of large intestine" "protocadherin beta-2" "KU812" "aortic aneurysm" "estrogen receptor measurement" + "obsolete_stromal cell of lamina propria of large intestine" "atrophic thyroiditis" "GM17163" "noelin" @@ -15147,8 +15145,8 @@ "RYR1-related myopathy" "response to gases and fumes exposure" "obsolete_Autosomal dominant dopa-responsive dystonia" - "seed structure" "probable dimethyladenosine transferase measurement" + "seed structure" "obsolete_ring chromosome 14" "obsolete prenatal benign hypophosphatasia" "benign phyllodes tumor" @@ -15165,11 +15163,11 @@ "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy" "acute salpingo-oophoritis" "precuneus cortex volume measurement"@en - "obsolete_glycogen storage disease due to lactate dehydrogenase M-subunit deficiency" "level of transcription intermediary factor 1-beta in blood serum" "leg" "peptidoglycan recognition protein 4" "substantia nigra and ventral tegmental area" + "obsolete_glycogen storage disease due to lactate dehydrogenase M-subunit deficiency" "emotional symptom measurement" "hypogonadotropic hypogonadism 5 with or without anosmia" "Mikati-Najjar-Sahli syndrome" @@ -15212,9 +15210,9 @@ "Ochoa syndrome" "apolipoprotein C-II" "obsolete 46,XX sex reversal 1" - "Torticollis - keloids - cryptorchidism - renal dysplasia" "alanine glyoxylate aminotransferase deficiency" "Mycoplasma pneumoniae pneumonia" + "Torticollis - keloids - cryptorchidism - renal dysplasia" "microvascular complications of diabetes, susceptibility to, 4" "global developmental delay, progressive ataxia, and elevated glutamine" "tubulin--tyrosine ligase" @@ -15227,12 +15225,12 @@ "multiple inositol polyphosphate phosphatase 1 measurement" "DCN1-like protein 1" "multiple system atrophy 1, susceptibility to" - "Cystic Kidney Disease" + "cystic kidney disease" "response to ustekinumab"@en "targeted mutation" "subependymal giant cell astrocytoma" - "high content screen" "2-oxoglutarate(2-)" + "high content screen" "M6A-RIP" "stem cell derived cell line" "eccrine sweat gland neoplasm" @@ -15250,9 +15248,9 @@ "Amapari virus" "level of gap junction alpha-8 protein in blood serum" "mixed neoplasm" - "obsolete_Nervous system anomaly with eye involvement" "Aniridia - ptosis - intellectual disability - familial obesity" "level of neuroendocrine convertase 1 in blood serum" + "obsolete_Nervous system anomaly with eye involvement" "NCI-H1373" "dorsal prothoracic pharyngeal muscle" "cholesterol to total lipids in chylomicrons and extremely large VLDL percentage " @@ -15293,13 +15291,13 @@ "level of tetratricopeptide repeat protein 9A in blood serum" "obsolete_4-hydroxybutyric aciduria" "obsolete_mesomelic dwarfism, Nievergelt type" - "immunoglobulin lambda-like polypeptide 1 measurement" "sulfate transporter-related osteochondrodysplasia"@en + "immunoglobulin lambda-like polypeptide 1 measurement" "infantile-onset mesial temporal lobe epilepsy with severe cognitive regression" "benign neoplasm of neck" "obsolete_pharyngeal arch cartilage" - "cis-4-decenoate (10:1n6) measurement" "hemK methyltransferase family member 2 measurement" + "cis-4-decenoate (10:1n6) measurement" "60S acidic ribosomal protein P2 measurement" "ubiquitin carboxyl-terminal hydrolase CYLD" "Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency" @@ -15363,9 +15361,9 @@ "macular dystrophy with or without cone dysfunction" "obsolete_familial thrombocytosis" "Kidney Cyst" + "high content screen of cells in a gene deletion library" "RDH5-related retinopathy" "level of Ceramide (d40:2) in blood serum" - "high content screen of cells in a gene deletion library" "level of lymphocyte antigen 75 isoform 4 and LY75-CD302 fusion isoforms V34-2/V33-2 (human) in blood serum" "CS57560" "obsolete_campomelic dysplasia" @@ -15401,9 +15399,9 @@ "obsolete_dentin dysplasia" "level of bone morphogenetic protein 3 in blood serum" "E3 ISG15--protein ligase HERC5" - "obsolete_congenital amegakaryocytic thrombocytopenia" "level of Xaa-Pro aminopeptidase 3 in blood serum" "gRNA-seq" + "obsolete_congenital amegakaryocytic thrombocytopenia" "L-urobilin measurement" "level of tetraspanin-15 in blood" "transitional cell neoplasm" @@ -15433,8 +15431,8 @@ "creatine" "flavin-containing monooxygenase 3" "X-24571 measurement" - "receptor-type tyrosine-protein phosphatase mu" "central hearing loss" + "receptor-type tyrosine-protein phosphatase mu" "ChIP-chip by array" "Hypogonadotropic hypogonadism - retinitis pigmentosa" "distal 7q11.23 microdeletion syndrome" @@ -15476,9 +15474,9 @@ "Primary hypomagnesemia with secondary hypocalcemia" "Prolonged bleeding time" "anterior pituitary gland disorder" + "Nm-seq" "ampulla of Vater adenocarcinoma" "ENCODE functional genome mapping" - "Nm-seq" "level of FRAS1-related extracellular matrix protein 2 in blood serum" "Human adenovirus 40" "growth/differentiation factor 2 measurement" @@ -15496,8 +15494,8 @@ "Anopheles gambiae" "Theiler stage 17" "pregnancy-specific beta-1-glycoprotein 4 measurement" - "azinphos methyl measurement"@en "Snijders Blok-Campeau syndrome"@en + "azinphos methyl measurement"@en "UL16-binding protein 1" "A2058" "paraneoplastic antigen Ma2" @@ -15598,8 +15596,8 @@ "ischemic bowel disorder" "level of AT-rich interactive domain-containing protein 4B in blood" "Poor speech" - "obsolete_X-linked complicated corpus callosum dysgenesis" "protocadherin gamma-A10" + "obsolete_X-linked complicated corpus callosum dysgenesis" "central nervous system toxicity" "autosomal recessive nonsyndromic hearing loss 2" "prostate intraepithelial neoplasia" @@ -15607,12 +15605,12 @@ "level of C-X-C motif chemokine 3 in blood serum" "HCC1599" "idiopathic scoliosis" - "Craniostenosis associated with a strabismus" "distal arthrogryposis type 2B1" "level of N-acyl-aromatic-L-amino acid amidohydrolase, carboxylate-forming in blood serum" "HCC4006" "branched-chain, straight-chain, or cyclopropyl 12:1 fatty acid measurement" "level of PWWP domain-containing DNA repair factor 3A in blood serum" + "Craniostenosis associated with a strabismus" "MFM-223" "sick sinus syndrome 1" "obsolete_anorexia nervosa" @@ -15672,8 +15670,8 @@ "dihydrotestosterone measurement" "week" "neuroendocrine neoplasm" - "level of DnaJ homolog subfamily A member 2 in blood serum" "level of peptidase inhibitor 15 in blood serum" + "level of DnaJ homolog subfamily A member 2 in blood serum" "level of 26S proteasome non-ATPase regulatory subunit 5 in blood serum" "non-homologous end-joining factor 1" "Weismann-Netter syndrome" @@ -15787,8 +15785,8 @@ "selenate" "Spirochaetales Infections" "level of leucine-rich repeat and transmembrane domain-containing protein 1 in blood serum" - "level of stathmin in blood serum" "lower lobe of right lung" + "level of stathmin in blood serum" "exosome complex component RRP40 measurement" "exposure temperature" "central nervous system tuberculosis" @@ -15797,11 +15795,11 @@ "viral RNA data" "level of T-complex protein 1 subunit epsilon in blood" "Gliosis" + "obsolete_corneal-cerebellar syndrome" + "obsolete_mucopolysaccharidosis type 6, rapidly progressing" "Non-dystrophic myopathy with collagen 6 anomaly" "Appendix Adenocarcinoma" "hepatic and glial cell adhesion molecule" - "obsolete_corneal-cerebellar syndrome" - "obsolete_mucopolysaccharidosis type 6, rapidly progressing" "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1" "KBM-3"@en "protein Spindly" @@ -15927,11 +15925,11 @@ "WAP four-disulfide core domain protein 10A" "potassium bicarbonate measurement" "protein mono-ADP-ribosyltransferase PARP11" + "H2.35" "keratin, type I cuticular Ha4" "intellectual disability, autosomal recessive 58" - "H2.35" - "T-cell surface glycoprotein CD1c" "conjunctivitis" + "T-cell surface glycoprotein CD1c" "Arbovirus Infections" "GM14533" "congenital nonspherocytic hemolytic anemia" @@ -16007,8 +16005,8 @@ "Guanarito virus" "level of gap junction delta-2 protein in blood serum" "Abnormal cardiac atrium morphology" - "Epidermolysis bullosa simplex, Ogna type" "Estrogen resistance syndrome" + "Epidermolysis bullosa simplex, Ogna type" "SCP2 sterol-binding domain-containing protein 1 measurement" "Yersinia pestis" "gonadal agenesis" @@ -16038,10 +16036,10 @@ "ornithine transcarbamylase, mitochondrial" "paroxysmal extreme pain disorder" "epidural abscess" + "Flavobacteriaceae Infections" "7-methylpyrido34-cpsoralen measurement" "hyper-IgM syndrome type 2" "obesity due to SIM1 deficiency" - "Flavobacteriaceae Infections" "complement C3B measurement" "Double inlet left ventricle" "1-arachidonoyl-GPE (20:4n6) measurement" @@ -16051,9 +16049,9 @@ "histone acetyltransferase kat6a measurement" "level of heat shock protein HSP 90-alpha in blood serum" "level of proteasome subunit beta type-3 in blood serum" + "response to diisocyanate" "obsolete cytoplasmic part" "testis-expressed protein 29" - "response to diisocyanate" "obsolete_maternally-inherited diabetes and deafness" "fibronectin seropositivity" "homeobox protein Mohawk" @@ -16082,8 +16080,8 @@ "adhesion G protein-coupled receptor E2 measurement" "obsolete_autosomal dominant distal hereditary motor neuropathy" "72 kDa inositol polyphosphate 5-phosphatase measurement" - "Micrococcal Nuclease digestion" "embryo sac" + "Micrococcal Nuclease digestion" "Pierre Robin syndrome-faciodigital anomaly syndrome" "INTACT" "benign neoplasm of glottis" @@ -16125,22 +16123,22 @@ "Autosomal dominant Charcot-Marie-Tooth disease type 2L" "obsolete_platyspondylic dysplasia, Torrance type" "tyrosine-protein phosphatase non-receptor type 6 measurement" - "obsolete_Prader-Willi-like syndrome" "2'-5'-oligoadenylate synthase 1 measurement" "spondyloepimetaphyseal dysplasia, matrilin-3 type" "level of tetraspanin-7 in blood" "astaxanthin measurement" "linguistic error measurement" + "obsolete_Prader-Willi-like syndrome" "autosomal recessive severe congenital neutropenia due to CSF3R deficiency" "interleukin-2 receptor subunit beta" - "level of frizzled-8 in blood" "Complex Cyst of Kidney" + "level of frizzled-8 in blood" "abnormal result of diagnostic imaging" "Spartina x townsendii" "infraorbital lateral line neuromast" "carboxamide measurement"@en - "level of Ceramide (d40:1) in blood serum" "high content screen of cells in treated with a compound library" + "level of Ceramide (d40:1) in blood serum" "level of immunoglobulin kappa variable 1-5 (human) in blood serum" "obsolete_Canavan disease" "level of apolipoprotein E in blood serum" @@ -16168,10 +16166,10 @@ "Natal teeth - intestinal pseudoobstruction - patent ductus" "4-Pyridoxic acid measurement" "obsolete_thyroid hypoplasia" + "obsolete_Tay-Sachs disease, b variant, adult form" "fibronectin measurement" "shRNA-seq" "obsolete isolated Klippel-Feil syndrome" - "obsolete_Tay-Sachs disease, b variant, adult form" "ovarian serous tumor" "Charcot-Marie-Tooth disease type 4F" "laryngeal sarcoma" @@ -16187,8 +16185,8 @@ "antirheumatic drug" "Epididymitis" "liver disease biomarker" - "intestinal polyp" "protein sidekick-2" + "intestinal polyp" "cation-dependent mannose-6-phosphate receptor measurement" "insect visual primordium" "obsolete_benign familial nocturnal alternating hemiplegia of childhood" @@ -16201,9 +16199,9 @@ "growth/differentiation factor 5 measurement" "white matter volume measurement" "mitral valve insufficiency" - "X-24574 measurement" "Cogan-Reese syndrome" "level of Leu-Phe in blood" + "X-24574 measurement" "methylation profiling by high throughput sequencing" "anterior compartment syndrome" "porencephaly-microcephaly-bilateral congenital cataract syndrome" @@ -16241,7 +16239,7 @@ "disseminated sporotrichosis" "macular degeneration" "Ehlers-Danlos syndrome, classic type" - "cellular biosynthetic process" + "obsolete cellular biosynthetic process" "mitochondrial complex I deficiency, nuclear type" "level of haloacid dehalogenase-like hydrolase domain-containing protein 2 in blood serum" "acquired factor VII deficiency" @@ -16371,8 +16369,8 @@ "TSC22 domain family protein 1" "Embolism, Paradoxical" "perivascular space measurement"@en - "obsolete_parietal lobe" "level of Ras-related protein Rap-2a in blood serum" + "obsolete_parietal lobe" "undifferentiated carcinoma of stomach" "articulation" "congenital myopathy 2c, severe infantile, autosomal dominant" @@ -16402,15 +16400,15 @@ "childhood epilepsy with centrotemporal spikes" "immature NK T cell stage I" "level of 26S proteasome non-ATPase regulatory subunit 9 in blood serum" - "obsolete_megalencephalic leukoencephalopathy with subcortical cysts" "mitochondrial import inner membrane translocase subunit Tim23" + "obsolete_megalencephalic leukoencephalopathy with subcortical cysts" "GM23338" "calcium-binding protein 8" "3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial" + "allograft inflammatory factor 1 measurement" "hematopoietic lineage cell-specific protein" "obsolete_labial sensory complex primordium" "Theiler stage 21" - "allograft inflammatory factor 1 measurement" "Developmental delay with variable intellectual impairment and behavioural abnormalities"@en "obsolete_anguloarticular" "sweetening agent" @@ -16429,12 +16427,12 @@ "chronic dacryoadenitis" "brain sarcoma" "E3 ubiquitin-protein ligase parkin" - "UPCI-SCC-131" "skin sensitivity to sun" "GTP-binding protein RhoA" + "UPCI-SCC-131" "Hypoplasia of the fovea" - "non-functioning pituitary gland neoplasm" "N-acylneuraminate-9-phosphatase" + "non-functioning pituitary gland neoplasm" "juvenile sialidosis type II" "smooth muscle tumor" "Rare genetic odontologic disease" @@ -16455,8 +16453,8 @@ "ALG8-congenital disorder of glycosylation" "level of CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2 in blood serum" "Benign Salivary Gland Myoepithelioma" - "Marburg hemorrhagic fever" "Attached earlobe" + "Marburg hemorrhagic fever" "bradykinin measurement" "obsolete_partial deletion of chromosome 9" "galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 measurement" @@ -16468,9 +16466,9 @@ "CLASH" "3T3-F442A" "level of PRKC apoptosis WT1 regulator protein in blood serum" - "Epidermolysis bullosa simplex with circinate migratory erythema" "Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency" "3-4-hydroxyphenyl lactate-to-alpha-hydroxyisovalerate ratio"@en + "Epidermolysis bullosa simplex with circinate migratory erythema" "maxillary sinus inverted papilloma" "retinal edema" "5-azacytidine-induced protein 2" @@ -16492,13 +16490,13 @@ "obsolete_congenital myasthenic syndromes with glycosylation defect" "translin measurement" "fatal familial insomnia" - "Qualitative or quantitative defects of collagen 6" "Pavo cristatus" - "glycylvaline measurement" + "Qualitative or quantitative defects of collagen 6" "level of ubiquitin carboxyl-terminal hydrolase 8 in blood serum" + "glycylvaline measurement" "interleukin-23 measurement" - "GM17793" "laurin-Sandrow syndrome" + "GM17793" "tubulin-folding cofactor B" "N-acetyl-L-aspartic acid" "Zika virus infectious disease" @@ -16582,8 +16580,8 @@ "Perlman syndrome" "N-carbamoyl-beta-alanine" "month" - "neuromuscular disease" "linear skin defects with multiple congenital anomalies" + "neuromuscular disease" "Congenital miosis" "obsolete_intellectual disability" "dilatation of the sinus of Valsalva" @@ -16622,18 +16620,18 @@ "cholesteryl ester 22:6 measurement"@en "Ras-related and estrogen-regulated growth inhibitor" "Conductive deafness - ptosis - skeletal anomalies" - "obsolete_isolated hereditary congenital facial paralysis" "level of chemokine-like protein TAFA-3 in blood serum" - "cell division control protein 42 homolog measurement" + "obsolete_isolated hereditary congenital facial paralysis" "alcohol and nicotine codependence" + "cell division control protein 42 homolog measurement" "scavenger receptor class A member 5 measurement" "AT-rich interactive domain-containing protein 3C" "obsolete_VACTERL with hydrocephalus" "virus seropositivity" "rostral middle frontal gyrus volume measurement"@en + "erucic acid measurement" "Joubert syndrome and related disorders" "gamma-Glu-Gln" - "erucic acid measurement" "serine/threonine-protein kinase N2" "acute salpingitis" "C-type lectin domain family 2 member A" @@ -16675,8 +16673,8 @@ "obsolete_Syndromic X-linked ichthyosis" "obsolete_lethal osteosclerotic bone dysplasia" "level of tumor protein D54 in blood" - "phakomatosis spilorosea" "juvenile idiopathic inflammatory myopathy" + "phakomatosis spilorosea" "gram-negative bacterial infections" "atrioventricular block" "reticulate pigment disorder" @@ -16728,8 +16726,8 @@ "cyclin-dependent kinase inhibitor 3 measurement" "hemorheological measurement" "sulfhemoglobinemia" - "molar-incisor hypomineralization" "nonsyndromic congenital nail disorder 4" + "molar-incisor hypomineralization" "inherited reflex epilepsy" "thymus lipoma" "cholesterol esters in medium VLDL measurement" @@ -16773,8 +16771,8 @@ "level of interferon-inducible protein AIM2 in blood serum" "benign neoplasm of pleura" "obsolete_hyperimmunoglobulinemia D with periodic fever" - "a disintegrin and metalloproteinase with thrombospondin motifs 3 measurement" "guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12" + "a disintegrin and metalloproteinase with thrombospondin motifs 3 measurement" "T3a tumor stage" "organelle envelope" "phyllid" @@ -16824,9 +16822,9 @@ "Cervical Adenoid Cystic Carcinoma" "obsolete short rib-polydactyly syndrome, Saldino-Noonan type" "7alpha-hydroxy-3-oxo-4-cholestenoic acid" - "Spondylometaphyseal dysplasia - cone-rod dystrophy" "thyroid gland" "disappearing bone disease" + "Spondylometaphyseal dysplasia - cone-rod dystrophy" "reduced representation preparation" "TARP syndrome" "level of cartilage intermediate layer protein 1 in blood serum" @@ -16872,8 +16870,8 @@ "CMRF35-like molecule 8" "intellectual developmental disorder with macrocephaly, seizures, and speech delay" "adenylate kinase 4, mitochondrial" - "level of aminopeptidase N in blood serum" "alpha-CEHC glucuronide measurement" + "level of aminopeptidase N in blood serum" "cancer cell line sample" "muscular pseudohypertrophy-hypothyroidism syndrome" "syntactic complexity measurement" @@ -16933,11 +16931,11 @@ "tumor grade 2, general grading system" "autoimmune disease biomarker" "complement C3B, inactivated measurement" + "Progressive sensorineural hearing loss - hypertrophic cardiomyopathy" "response to fluoroquinolones" "dissection" - "Progressive sensorineural hearing loss - hypertrophic cardiomyopathy" - "level of SCAN domain-containing protein 1 in blood serum" "infective arthritis" + "level of SCAN domain-containing protein 1 in blood serum" "Brodmann (1909) area 38" "histone acetyltransferase type b catalytic subunit measurement" "family size" @@ -16979,8 +16977,8 @@ "level of peptidyl-prolyl cis-trans isomerase NIMA-interacting 1 in blood serum" "level of frizzled-2 in blood serum" "pituitary gland disease" - "nerve root" "Genetic motor neuron disease" + "nerve root" "hereditary spastic paraplegia 4" "level of glutamate receptor ionotropic, delta-1 in blood serum" "lethal Larsen-like syndrome" @@ -16988,8 +16986,8 @@ "oleoyl-arachidonoyl-glycerol (18:1/20:4) [1] measurement" "Vang-like protein 1" "weight-to-muscle ratio"@en - "phospholipids in very large VLDL measurement " "engulfment and cell motility protein 2" + "phospholipids in very large VLDL measurement " "stearoylcarnitine measurement" "smad5" "interstitial dendritic cell" @@ -17070,8 +17068,8 @@ "sarcomatoid transitional cell carcinoma" "obsolete_occipital lobe" "BRCA1-related cancer predisposition" - "Ethmoid Sinus Adenoid Cystic Carcinoma" "Liddle syndrome" + "Ethmoid Sinus Adenoid Cystic Carcinoma" "(N(omega)-L-arginino)succinic acid" "folate intake measurement"@en "chromosome 16 disorder" @@ -17192,12 +17190,12 @@ "Candidatus Phytoplasma asteris" "tRNA-splicing endonuclease subunit Sen15" "hypothalamic neoplasm" + "D-Trehalose to 3-Indolepropionic acid ratio" "megakaryocyte and platelet inhibitory receptor G6b" "level of STAM-binding protein in blood" "Cerebellar cyst" "trichorhinophalangeal syndrome, type III" "phosphatidylcholine O-40:5" - "D-Trehalose to 3-Indolepropionic acid ratio" "interleukin-24 measurement" "autosomal recessive brachyolmia" "prominent glabella-microcephaly-hypogenitalism syndrome" @@ -17213,9 +17211,9 @@ "Human papillomavirus" "level of hepatoma-derived growth factor-like protein 1 in blood serum" "obsolete_alopecia" - "obsolete_developmental delay with autism spectrum disorder and gait instability" "Congenital atransferrinemia" "tRNA (guanine-N(7)-)-methyltransferase" + "obsolete_developmental delay with autism spectrum disorder and gait instability" "NAD-dependent protein deacylase sirtuin-5, mitochondrial measurement" "GRIL-seq" "fibrous dysplasia" @@ -17226,8 +17224,8 @@ "X-17438 measurement" "Bell-shaped thorax" "spondylodysplastic dysplasia" - "WT47 cells" "response to ondansetron"@en + "WT47 cells" "obsolete_isolated oxycephaly" "level of homeobox protein HMX2 in blood serum" "oropharyngeal carcinoma" @@ -17387,7 +17385,6 @@ "66cl4" "phosphatidylcholine diacyl C32:0 measurement" "cell culture supernatant"@en - "cell culture supernatant" "guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-11" "heart leiomyosarcoma" "Hypotonia - failure to thrive - microcephaly" @@ -17476,8 +17473,8 @@ "level of GDP-fucose protein O-fucosyltransferase 1 in blood serum" "neuron projection" "erythrocyte aggregation" - "callous-unemotional behaviour" "phospholipids in medium LDL measurement" + "callous-unemotional behaviour" "myoclonus-cerebellar ataxia-deafness syndrome" "OS-Seq" "Gastric Small Cell Neuroendocrine Carcinoma" @@ -17504,9 +17501,9 @@ "Unspecified mitochondrial disorder" "HMC-1-8 cell" "alcohol withdrawal" - "mirror movements 3" "triacylglycerol 58:12" "mandibulofacial dysostosis-macroblepharon-macrostomia syndrome" + "mirror movements 3" "level of ubiquilin-3 in blood serum" "obsolete_multiple synostoses syndrome" "phage seropositivity" @@ -17695,10 +17692,10 @@ "Palpebral tumor" "CB66" "Obesity Hypoventilation Syndrome" + "Rienhoff syndrome" "protein-tyrosine sulfotransferase 2 measurement" "Decreased circulating renin concentration" "inclusive hindgut primordium" - "Rienhoff syndrome" "esophageal basaloid carcinoma" "hepatic veno-occlusive disease" "apolipoprotein F" @@ -17756,8 +17753,8 @@ "Bisulfite-seq" "Möbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism" "myxoid chondrosarcoma" - "adenine nucleotide translocase lysine N-methyltransferase" "Autosomal dominant Charcot-Marie-Tooth disease type 2A2" + "adenine nucleotide translocase lysine N-methyltransferase" "galectin-3 measurement" "Right atrial enlargement" "generalized resistance to thyroid hormone" @@ -17771,8 +17768,8 @@ "obsolete hereditary thrombocytopenia with normal platelets" "forskolin" "Toll/interleukin-1 receptor domain-containing adapter protein" - "microcephaly-polymicrogyria-corpus callosum agenesis syndrome" "obsolete_isolated asymptomatic elevation of creatine phosphokinase" + "microcephaly-polymicrogyria-corpus callosum agenesis syndrome" "animal disease" "carboxylic acid measurement"@en "idiopathic nephrotic syndrome" @@ -17865,14 +17862,14 @@ "cell suspension culture" "central nervous system nongerminomatous germ cell tumor" "collagen alpha-2(XI) chain measurement" - "temporal lobe cancer" "dihomo-linolenate 20:3n3 or n6 measurement" + "temporal lobe cancer" + "Antiglaucoma preparations and miotics use measurement" "renal pelvis inverted papilloma" "Aplasia/Hypoplasia of the cerebellum" "valine--tRNA ligase" - "Antiglaucoma preparations and miotics use measurement" - "microcephaly, short stature, and limb abnormalities" "lung disease severity measurement" + "microcephaly, short stature, and limb abnormalities" "obsolete_Li-Fraumeni syndrome" "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1" "infectious otitis media" @@ -17900,10 +17897,10 @@ "Short stature - deafness - neutrophil dysfunction - dysmorphism" "pediatric lymphoma" "Genetic dermis elastic tissue disorder" - "Primary immunodeficiency due to a defect in innate immunity" "RNA assay" - "pancreatic adenosquamous carcinoma" + "Primary immunodeficiency due to a defect in innate immunity" "protein Wnt-5a" + "pancreatic adenosquamous carcinoma" "congenital disorder of glycosylation with defective fucosylation" "rare syndromic intellectual disability"@en "semaphorin-6C" @@ -17967,18 +17964,18 @@ "sarilumab"@en "NA8-MEL cells" "level of homeobox protein HMX3 in blood serum" + "human herpesvirus 7 seropositivity" "ephrin-A2 measurement" "myopia 28, autosomal recessive" - "human herpesvirus 7 seropositivity" "obsolete primary myoclonus" "Paranasal Sinus Schneiderian Papilloma" "protocadherin-12" "obsolete_thallus" - "magnetic affinity cell sorting" "acute kidney failure" "polypeptide N-acetylgalactosaminyltransferase 16" "GM17240" "level of sorting nexin-9 in blood" + "magnetic affinity cell sorting" "level of variable charge X-linked protein 1 in blood serum" "obsolete_spinocerebellar ataxia type 6" "inflammation of heart layer" @@ -18009,8 +18006,8 @@ "cystic fibrosis associated meconium ileus" "obsolete_osteoglophonic dwarfism" "melanoregulin" - "Kashin-Beck disease" "obsolete_self-healing collodion baby" + "Kashin-Beck disease" "obsolete_autosomal recessive limb-girdle muscular dystrophy type 2C" "hearing loss, autosomal dominant 74" "lactose measurement"@en @@ -18029,10 +18026,10 @@ "orthochromatic erythroblast" "Impaired arachidonic acid-induced platelet aggregation" "Lewis" - "obsolete_Scheie syndrome" "ADan amyloidosis" - "oral mucositis" + "obsolete_Scheie syndrome" "Syncope" + "oral mucositis" "mucopolysaccharidosis type 2" "pseudouridine-5'-phosphatase" "level of histone acetyltransferase KAT5 in blood serum" @@ -18076,11 +18073,11 @@ "somatostatinoma" "ABCD syndrome" "obsolete_progeria-associated arthropathy" - "Cronobacter dublinensis" "grade III meningioma" - "biotin-responsive basal ganglia disease" + "Cronobacter dublinensis" "chondroblastoma" "anus cancer" + "biotin-responsive basal ganglia disease" "actin-related protein 2/3 complex subunit 5" "Perturb-Seq" "obsolete_coralliform cataract" @@ -18186,9 +18183,9 @@ "multiple sclerosis, susceptibility to" "phosphatidylcholine 36:5" "Alpha-thalassemia" + "obsolete_Rombo syndrome" "Bethlem myopathy 1C" "pontocerebellar hypoplasia type 9" - "obsolete_Rombo syndrome" "pharyngeal arch artery 3" "peroxidasin-like protein measurement" "RESA-CLIP" @@ -18238,8 +18235,8 @@ "hyperuricemic nephropathy, familial juvenile type 3" "level of voltage-dependent L-type calcium channel subunit alpha-1C in blood" "GM03318 cell" - "G142" "uridine phosphorylase 2" + "G142" "tumor necrosis factor receptor superfamily member 1Ameasurement" "familial generalized lentiginosis" "syntaxin-binding protein 6" @@ -18253,15 +18250,15 @@ "Hyperpituitarism" "mature T cell" "VMRC-RCW cell" - "obsolete_cardiospondylocarpofacial syndrome" "4-methoxyphenol sulfate measurement" + "obsolete_cardiospondylocarpofacial syndrome" "lateral line ganglion" - "obsolete_congenital microcoria" "animal allergen seropositivity" - "X-11478 measurement" - "red blood cell density measurement" + "obsolete_congenital microcoria" "obsolete_anterior lateral line system" "establishment of localization in cell" + "X-11478 measurement" + "red blood cell density measurement" "Charlevoix-Saguenay spastic ataxia" "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11" "POU domain class 2-associating factor 1" @@ -18278,8 +18275,8 @@ "myristoylglycine measurement" "level of cyclin-dependent kinase 2-interacting protein in blood serum" "obsolete syndromic esophageal malformation" - "level of neuroligin-4, Y-linked in blood serum" "hemiplegia" + "level of neuroligin-4, Y-linked in blood serum" "Joubert syndrome with renal defect" "mucositis" "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form" @@ -18310,9 +18307,9 @@ "obsolete_acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins" "sensory perception of bitter taste" "impetigo herpetiformis" - "obsolete_severe early-onset axonal neuropathy due to NEFL deficiency" "Zea mays" "metaphysis of femur" + "obsolete_severe early-onset axonal neuropathy due to NEFL deficiency" "apolipoprotein E" "activin/inhibin beta B chain" "cysteine-rich motor neuron 1 protein measurement" @@ -18339,10 +18336,10 @@ "NCI-H2596" "alpha-aminoadipic semialdehyde dehydrogenase" "level of izumo sperm-egg fusion protein 4 in blood serum" - "level of neurexin-2-beta in blood serum" "heart failure" - "IFAP syndrome" + "level of neurexin-2-beta in blood serum" "breast phyllodes tumor" + "IFAP syndrome" "Genodermatosis with ocular features" "intractable diarrhea-choanal atresia-eye anomalies syndrome" "Bull's eye maculopathy" @@ -18383,8 +18380,8 @@ "level of scavenger receptor class B member 1 in blood serum" "Castleman-Kojima disease" "level of stress-70 protein, mitochondrial in blood serum" - "protein EURL" "GM17765" + "protein EURL" "obsolete_optic primordium" "level of insulin-like growth factor 2 mRNA-binding protein 3 in blood" "antineoplastic agent" @@ -18413,8 +18410,8 @@ "obsolete_autosomal recessive polycystic kidney disease" "sialic acid-binding Ig-like lectin 9 measurement" "level of nucleolin in blood serum" - "tetradecadienoate (14:2) measurement" "equine infectious anemia" + "tetradecadienoate (14:2) measurement" "obsolete_percent oxygen" "C-type lectin domain family 12 member A" "metopic ridging-ptosis-facial dysmorphism syndrome" @@ -18435,13 +18432,13 @@ "octanoate" "inferred cell type" "Prolonged QT interval" + "superior crus of antihelix expression" "protein FRG1" "level of leukocyte elastase inhibitor in blood serum" "loop design" - "superior crus of antihelix expression" - "dendritic cell tumor" "Tetranychus urticae" "dinitrophenol" + "dendritic cell tumor" "protein FAM19A2 measurement" "level of leucine-rich repeat-containing protein 15 in blood serum" "malignant germ cell tumor of cervix uteri" @@ -18456,20 +18453,20 @@ "dynein regulatory complex protein 10" "Recurrent aphthous stomatitis" "Cervical Clear Cell Adenocarcinoma" - "mothers against decapentaplegic homolog 2 measurement" - "tinea" "monostotic fibrous dysplasia" + "tinea" "phosphatidylcholine 42:6" "obsolete Goldenhar syndrome" "level of translocon-associated protein subunit alpha in blood serum" "beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase" "lethal congenital contracture syndrome 1" "vascular hemostatic disease" + "mothers against decapentaplegic homolog 2 measurement" "nose" "Neurofibromatosis type 1 due to NF1mutation or intragenic deletion" "uterine benign neoplasm" - "level of Sterol ester (27:1/14:0) in blood serum" "Lacrimal Gland Adenoid Cystic Carcinoma" + "level of Sterol ester (27:1/14:0) in blood serum" "level of cilia- and flagella-associated protein 298 (human) in blood serum" "obsolete_Lynch syndrome" "level of transmembrane protein 70, mitochondrial in blood serum" @@ -18499,8 +18496,8 @@ "obsolete_Ackerman syndrome" "neoplasm of floor of mouth" "acute conjunctivitis" - "iridogoniodysgenesis" "GDNF family receptor alpha-2 measurement" + "iridogoniodysgenesis" "beta-klotho" "booting stage" "bronchogenic cyst" @@ -18512,9 +18509,9 @@ "Intellectual disability" "Abnormality of the urinary system physiology" "obsolete_tuber" - "obsolete_Pai syndrome" "carnitine measurement"@en "immature platelet measurement" + "obsolete_Pai syndrome" "nasopharynx" "malignant germ cell tumor of ovary" "Laryngeal cleft" @@ -18700,9 +18697,9 @@ "microcephaly-complex motor and sensory axonal neuropathy syndrome" "upper digestive tract" "lipoma of colon" - "Obesity due to congenital leptin resistance" - "high bone mass osteogenesis imperfecta" "Brassica juncea" + "high bone mass osteogenesis imperfecta" + "Obesity due to congenital leptin resistance" "Extrahepatic Bile Duct Squamous Cell Carcinoma" "CUB and sushi domain-containing protein 2" "infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly" @@ -18712,10 +18709,10 @@ "Src kinase-associated phosphoprotein 1" "obsolete palpebral lentiginosis" "optic atrophy" - "IBL4" "phosphatidylcholine diacyl C40:2 measurement" - "Breast hypertrophy" + "IBL4" "Phytophthora sojae" + "Breast hypertrophy" "thymus gland adenocarcinoma" "obsolete_phyllid_v2" "prostatic acinar adenocarcinoma" @@ -18858,8 +18855,8 @@ "methyltransferase-like protein 11A" "congenital Horner syndrome" "Non-hereditary late-onset primary lymphedema" - "C14:0 sphingomyelin measurement" "invasive lobular carcinoma" + "C14:0 sphingomyelin measurement" "GRO-CAP" "anti-merkel cell virus antibody measurement"@en "stricture" @@ -19024,17 +19021,17 @@ "convulsion" "metabolite ratio" "muscular channelopathy" - "orthostatic intolerance" "protein mono-ADP-ribosyltransferase PARP16" - "gastric ulcer" "level of cold-inducible RNA-binding protein in blood serum" "Macrocytic dyserythropoietic anemia" + "orthostatic intolerance" "level of NACHT, LRR and PYD domains-containing protein 1 in blood serum" + "gastric ulcer" "mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency" "pulmonary non-tuberculous mycobacterial infection" - "DET1- and DDB1-associated protein 1" "decanoate" "level of 3'-5' exoribonuclease 1 in blood" + "DET1- and DDB1-associated protein 1" "embryonic blood" "endothelial monocyte-activating polypeptide 2 measurement" "AG04450" @@ -19054,8 +19051,8 @@ "obsolete_seedling" "Syndrome associated with hypertrophic cardiomyopathy" "2-oleoyl-GPC (18:1) measurement" - "level of ankyrin repeat domain-containing protein 45 in blood serum" "lysophosphatidylcholine 26:0 measurement" + "level of ankyrin repeat domain-containing protein 45 in blood serum" "IFAP syndrome 1, with or without BRESHECK syndrome" "crus helix expression" "Preaxial polydactyly of toes" @@ -19079,15 +19076,15 @@ "Spermophilus tridecemlineatus" "synaptotagmin-1" "ribosomal protein S6 kinase beta-1" - "Alpha-thalassemia - X-linked intellectual disability syndrome" "ubiquitin-like domain-containing CTD phosphatase 1" + "Alpha-thalassemia - X-linked intellectual disability syndrome" "brevican core protein measurement" "primary cutaneous lymphoma" "presumptive rhombomere 7" "obsolete_severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency" "MT2 cell" - "L-2-aminobutyrate" "mitofusin-1" + "L-2-aminobutyrate" "sulcal opening distance"@en "DU 145" "plasma clozapine measurement" @@ -19113,9 +19110,9 @@ "klotho" "N-desmethyltoremifene measurement" "level of protein WFDC11 in blood serum" + "GM14479" "level of mitochondrial import inner membrane translocase subunit Tim8 A in blood" "glucoside xylosyltransferase 1" - "GM14479" "level of low-density lipoprotein receptor-related protein 2 in blood" "CREST-seq" "Hippuric Acid" @@ -19275,10 +19272,10 @@ "Postsynaptic congenital myasthenic syndromes" "obsolete genetic hypertension" "inborn disorder of purine or pyrimidine metabolism" - "Pasteurella hemorrhagic septicemia" - "protocadherin beta-2 measurement" "proteomic profiling by array" + "Pasteurella hemorrhagic septicemia" "level of eukaryotic translation initiation factor 4 gamma 1 in blood serum" + "protocadherin beta-2 measurement" "cholinergic antagonist" "cortical surface area change measurement"@en "adult central nervous system germ cell tumor" @@ -19361,9 +19358,9 @@ "semaphorin-4D" "obsolete_floor plate rhombomere 2" "triple-negative breast cancer" + "obsolete_severe congenital hypochromic anemia with ringed sideroblasts" "urea transporter 1" "GM17290" - "obsolete_severe congenital hypochromic anemia with ringed sideroblasts" "N-acetylglutamate measurement" "macrocytic anemia" "ST486" @@ -19404,9 +19401,9 @@ "malignant sex cord stromal tumor of ovary" "homeobox protein DLX-2" "adenosine deaminase 2" - "osteoradionecrosis" "chromosomal aberration frequency" "fingerprint body myopathy" + "osteoradionecrosis" "EH domain-binding protein 1 measurement" "obsolete_syndromic hair shaft abnormality" "obsolete_male infertility with teratozoospermia due to single gene mutation" @@ -19417,8 +19414,8 @@ "obsolete_Distal hereditary motor neuropathy, Jerash type" "netrin-G1 measurement" "actinobacillosis" - "adult onset pityriasis rubra pilaris" "sushi domain-containing protein 5" + "adult onset pityriasis rubra pilaris" "nuclear receptor subfamily 5 group A member 2 measurement" "obsolete_salivary gland" "Short lingual frenulum" @@ -19457,14 +19454,14 @@ "level of protein Wnt-5a in blood serum" "intellectual disability-severe speech delay-mild dysmorphism syndrome" "Constipation" - "regulator of G-protein signaling 4" "Sushi domain-containing protein 3 measurement" + "regulator of G-protein signaling 4" + "hypertelorism-preauricular sinus-punctual pits-deafness syndrome" "Acute otitis media" "Abnormality of the nervous system" "Mesocricetus auratus" - "hypertelorism-preauricular sinus-punctual pits-deafness syndrome" - "hyper-IgE recurrent infection syndrome 4A, autosomal dominant" "Src kinase-associated phosphoprotein 2" + "hyper-IgE recurrent infection syndrome 4A, autosomal dominant" "Waardenburg syndrome type 3" "Premature thelarche" "Impaired thrombin-induced platelet aggregation" @@ -19528,8 +19525,8 @@ "obsolete_calf" "Human T-lymphotropic virus 1 infectious disease" "hypotension" - "cerebellar hemisphere" "obsolete_bone dysplasia, Azouz type" + "cerebellar hemisphere" "juvenile polyposis syndrome" "level of mitochondrial coiled-coil domain protein 1 in blood serum" "short sleep" @@ -19592,8 +19589,8 @@ "woolly hair-skin fragility syndrome" "3-[4-(3-chlorophenyl)piperazin-1-yl]-1,1-diphenylpropan-2-ol hydrochloride" "Meige disease" - "obsolete_peeling skin syndrome type A" "irradiate" + "obsolete_peeling skin syndrome type A" "obsolete_X-linked cerebral adrenoleukodystrophy" "common carotid intimal medial thickness" "pigmented nodular adrenocortical disease, primary, 3" @@ -19653,8 +19650,8 @@ "primary pigmented nodular adrenocortical disease" "Penicillium expansum" "desmosome" - "netrin-4 measurement" "voltage-dependent T-type calcium channel subunit alpha-1H" + "netrin-4 measurement" "ceramide phosphoethanolamine" "level of growth arrest and DNA damage-inducible proteins-interacting protein 1 in blood serum" "mycotoxicosis" @@ -19707,9 +19704,9 @@ "labial sensory complex primordium" "C-type lectin domain family 4 member D" "RWPE1" + "Partial congenital cataract" "congenital disorder of glycosylation type II" "obsolete_fatal post-viral neurodegenerative disorder" - "Partial congenital cataract" "Cerebral disease with cataract" "response to flupirtine" "obsolete_capillary" @@ -19765,8 +19762,8 @@ "autopod" "transient neonatal multiple acyl-CoA dehydrogenase deficiency" "response to bevacizumab" - "obsolete_familial papillary thyroid carcinoma with renal papillary neoplasia" "inverted follicular keratosis" + "obsolete_familial papillary thyroid carcinoma with renal papillary neoplasia" "DNA repair protein RAD51 homolog 4 measurement" "Generalized myoclonic-atonic seizure" "Zea mays subsp. mexicana" @@ -19824,12 +19821,12 @@ "GM17736" "level of DNA damage-inducible transcript 4 protein in blood serum" "sweat gland neoplasm" - "obsolete_obesity due to melanocortin 4 receptor deficiency" - "response to angiotensin-converting enzyme inhibitor" "A204" "level of leukocyte immunoglobulin-like receptor subfamily B member 5 in blood serum" + "response to angiotensin-converting enzyme inhibitor" "rectum malignant melanoma" "cholesterol esters in medium LDL measurement" + "obsolete_obesity due to melanocortin 4 receptor deficiency" "central nervous system hemangioma" "7,12-dimethyltetraphene" "obsolete_Brachyolmia type 1, Hobaek type" @@ -19856,8 +19853,8 @@ "ubiquitin-conjugating enzyme E2 D2" "obsolete_statoacoustic (VIII) ganglion" "1-methylxanthine measurement" - "obsolete_Hyperpigmentation of the skin" "thiamine measurement"@en + "obsolete_Hyperpigmentation of the skin" "obsolete_late-onset junctional epidermolysis bullosa" "familial pseudohyperkalemia" "level of cyclic nucleotide-gated cation channel beta-1 in blood" @@ -19868,15 +19865,15 @@ "phosphatidylcholine acyl-alkyl C42:3 measurement" "autosomal dominant myoglobinuria" "Geobacillus sp. E263" + "N-hexadecanoylpyrrolidine measurement" "childhood testicular mixed germ cell cancer" "glycoprotein endo-alpha-1,2-mannosidase" "papillary adenoma" "transcription initiation factor TFIID subunit 10" - "N-hexadecanoylpyrrolidine measurement" "lung capillary endothelial cell"@en + "abnormal vascular wound healing" "sparganosis" "level of protein WFDC13 in blood serum" - "abnormal vascular wound healing" "galectin-related protein" "CD115-positive monocyte OR common dendritic progenitor" "leucine-rich repeat-containing protein 15" @@ -20013,8 +20010,8 @@ "transcription regulator protein BACH1 measurement" "factor VII measurement" "pulmonary alveolar proteinosis" - "sleep-wake disorder" "asymmetrical dimethylarginine measurement" + "sleep-wake disorder" "Aroclor 1254" "level of prostaglandin E synthase 3 in blood serum" "neurodevelopmental disorder with cerebellar atrophy and motor dysfunction" @@ -20023,11 +20020,11 @@ "NMNAT1-related retinopathy" "hospitalisation"@en "intrahepatic cholangiocarcinoma" + "glutathione s-transferase p measurement" "partial deletion of the long arm of chromosome 17" "level of E3 ubiquitin ligase TRIM40 in blood" "male infertility with teratozoospermia due to single gene mutation" "level of LRP2-binding protein in blood" - "glutathione s-transferase p measurement" "HMEC" "obsolete_epidermal nevus syndrome" "hypophosphatasia" @@ -20050,8 +20047,8 @@ "Rare non-syndromic cataract" "acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation" "palmitoyl sphingomyelin (d18:1/16:0) measurement" - "Afp-GFP" "Rat-2" + "Afp-GFP" "Anorexia" "Vitreous floaters" "level of interleukin-21 receptor in blood" @@ -20152,12 +20149,12 @@ "penile neoplasm" "free cholesterol measurement" "lattice corneal dystrophy type I" + "kwashiorkor" "cAMP-dependent protein kinase type II-alpha regulatory subunit" "ovarian primitive germ cell tumor" - "kwashiorkor" + "tigloylglycine measurement" "parietal cortex measurement" "distal monosomy 1q" - "tigloylglycine measurement" "accessory pancreas" "age at initiation of oral contraceptive pill use"@en "progressive scapulohumeroperoneal distal myopathy" @@ -20165,10 +20162,10 @@ "obsolete_MOMO syndrome" "extrahepatic bile duct neoplasm" "Alternaria alternata" + "obsolete_hypochondrogenesis" "obsolete_Familial partial lipodystrophy associated with PLIN1 mutations" "whole plant flowering stage" "Chinese" - "obsolete_hypochondrogenesis" "intraocular pressure change measurement" "plexin domain-containing protein 1" "hemifacial hypertrophy" @@ -20192,8 +20189,8 @@ "acute myeloid leukemia, KIT exon 17 mutation" "dentate gyrus volume measurement" "actinomycosis" - "homeobox protein Hox-C11" "nucleoside diphosphate-linked moiety X motif 8, mitochondrial measurement" + "homeobox protein Hox-C11" "ski-like protein" "Pierre-Robin sequence" "telecanthus" @@ -20205,8 +20202,8 @@ "neonatal diabetes mellitus" "level of Ral guanine nucleotide dissociation stimulator-like 2 in blood" "metastatic colorectal cancer" - "serine/threonine-protein kinase MRCK beta measurement" "leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome" + "serine/threonine-protein kinase MRCK beta measurement" "oculodentodigital dysplasia, autosomal recessive" "level of U4/U6.U5 tri-snRNP-associated protein 1 in blood" "level of formylglycine-generating enzyme in blood" @@ -20239,9 +20236,9 @@ "X-14473 measurement" "CaR-1" "Atypical behavior" - "cutaneous Leishmaniasis" "autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency" "craniosynostosis and dental anomalies" + "cutaneous Leishmaniasis" "level of interferon alpha-5 in blood serum" "patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome" "nucleoside diphosphate kinase A measurement" @@ -20480,8 +20477,8 @@ "cholesterol in medium VLDL measurement " "dermatitis herpetiformis, familial" "micturition" - "hematological measurement" "obsolete_tetrasomy 9p" + "hematological measurement" "NF-kappa-B essential modulator measurement"@en "level of ecotropic viral integration site 5 protein in blood" "renal cell carcinoma cell line" @@ -20565,8 +20562,8 @@ "CD99 molecule" "carbon dioxide" "level of oxytocin-neurophysin 1 in blood serum" - "PWWP domain-containing protein 2B" "peroxisomal membrane protein PEX14 measurement" + "PWWP domain-containing protein 2B" "APOBEC1 complementation factor" "SPLASH" "Broad toe" @@ -20576,9 +20573,9 @@ "Delayed speech and language development" "Congenital muscular dystrophy with integrin alpha-7 deficiency" "obsolete_hindgut proper primordium" + "interleukin-10 receptor B measurement" "CS57541" "obsolete appendix goblet cell carcinoid" - "interleukin-10 receptor B measurement" "ERC protein 2" "3-methylxanthine measurement" "Ectopic thymus tissue" @@ -20587,9 +20584,9 @@ "Cucumber mosaic virus (strain FNY)" "level of protein canopy homolog 3 in blood" "obsolete_progressive bifocal chorioretinal atrophy" - "DNA-3-methyladenine glycosylase measurement" "Raji" "dengue disease" + "DNA-3-methyladenine glycosylase measurement" "dorsal skin" "retroperitoneal infection" "Coarse facial features" @@ -20598,8 +20595,8 @@ "level of V-type proton ATPase subunit G 1 in blood" "spastic paraplegia 70, autosomal recessive" "phosphatidylcholine acyl-alkyl C42:4 measurement" - "lipid" "childhood embryonal testis carcinoma" + "lipid" "diazoxide-resistant hyperinsulinism" "embryonal Fyn-associated substrate" "fallopian tube papilloma" @@ -20610,11 +20607,11 @@ "metapterygoid" "n-Butyl Oleate measurement" "adenine phosphoribosyltransferase deficiency" + "obsolete_partial deletion of the long arm of chromosome 4" "amygdala" "X-linked cerebral adrenoleukodystrophy" - "level of nuclear inhibitor of protein phosphatase 1 in blood serum" - "obsolete_partial deletion of the long arm of chromosome 4" "Microcephaly - deafness - intellectual disability" + "level of nuclear inhibitor of protein phosphatase 1 in blood serum" "gigaxonin measurement" "nucleus accumbens volume" "period of infection" @@ -20632,8 +20629,8 @@ "embryonic anal pad" "spina bifida cystica" "Constitutional deficiency anemia" - "obsolete_response to zileuton" "optimization design" + "obsolete_response to zileuton" "multiple intestinal atresia" "Thrombophlebitis" "head injury" @@ -20666,9 +20663,9 @@ "phosphatidylcholine 40:6" "primordial germ cell" "Microcystic Meningioma" - "obsolete_hemoglobin E disease" "MA-104" "level of tropomodulin-3 in blood serum" + "obsolete_hemoglobin E disease" "eye foreign body" "family history" "thymidylate kinase" @@ -20717,8 +20714,8 @@ "Stargardt disease 4" "EGF-like repeat and discoidin I-like domain-containing protein 3" "genomic DNA" - "Rare genetic refraction anomaly" "tonsillar macrophage" + "Rare genetic refraction anomaly" "C57BL/10J"@en "pontocerebellar hypoplasia type 13" "eosinophil-derived neurotoxin measurement"@en @@ -20732,8 +20729,8 @@ "Channelopathy with epilepsy" "trimethylamine-N-oxide measurement"@en "sterol metabolism disorder" - "malignant central nervous system mesenchymal, non-meningothelial neoplasm" "Pelger-Huet anomaly" + "malignant central nervous system mesenchymal, non-meningothelial neoplasm" "Ullrich congenital muscular dystrophy" "level of low-density lipoprotein receptor-related protein 10 in blood serum" "level of eukaryotic translation initiation factor 5A-2 in blood serum" @@ -20750,10 +20747,10 @@ "phosphatidylcholine acyl-alkyl C44:3 measurement" "accidental overdose"@en "obsolete_slender bone dysplasia" + "obsolete_Hennekam-Beemer syndrome" "NaNa-dimethylhistamine measurement" "absent radius-anogenital anomalies syndrome" "Molar tooth sign on MRI" - "obsolete_Hennekam-Beemer syndrome" "level of V-set and immunoglobulin domain-containing protein 10 in blood" "subvalvular aortic stenosis" "level of leucine-rich repeat flightless-interacting protein 2 in blood" @@ -20764,8 +20761,8 @@ "11beta-hydroxyandrosterone glucuronide measurement" "level of alpha-internexin in blood serum" "sodium channelopathy-related small fiber neuropathy" - "glycosyl compound metabolic process" "level of cyclic AMP-dependent transcription factor ATF-3 in blood serum" + "glycosyl compound metabolic process" "level of peroxisomal sarcosine oxidase in blood serum" "level of neuroendocrine protein 7B2 in blood serum" "level of chemokine-like protein TAFA-5 in blood serum" @@ -20776,13 +20773,13 @@ "obsolete_folinic acid-responsive seizures" "atypical teratoid rhabdoid tumor" "16a-hydroxy DHEA 3-sulfate measurement" + "McA-RH7777" "Convulsive status epilepticus" "angiokeratoma of scrotum" "GM17216" - "McA-RH7777" + "ILSXISS52/TejJ" "Puccinia striiformis f. sp. tritici" "grade II glioma" - "ILSXISS52/TejJ" "GM15213" "X-linked intellectual disability-craniofacioskeletal syndrome" "obsolete_malignant tumor of palpebral epidermis" @@ -20874,8 +20871,8 @@ "cell cycle" "hereditary glaucoma" "Autoimmunity" - "level of intraflagellar transport protein 20 in blood" "complex partial epilepsy" + "level of intraflagellar transport protein 20 in blood" "fibroblast growth factor 20 measurement" "spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits" "ethnic group" @@ -20912,10 +20909,10 @@ "Triphalangeal thumb - polysyndactyly syndrome" "level of Phosphatidylcholine (16:0_20:4) in blood serum" "gynoecium" + "neutrophilic promyelocyte" "trichohepatoenteric syndrome" "autosomal recessive spinocerebellar ataxia 14" "level of BTB/POZ domain-containing protein KCTD6 in blood serum" - "neutrophilic promyelocyte" "CTD small phosphatase-like protein" "deoxycholic acid glucuronide measurement" "methionine--tRNA ligase, cytoplasmic" @@ -20944,8 +20941,8 @@ "level of protein TSSC4 in blood serum" "SF126" "vaginal squamous tumor" - "level of COX assembly mitochondrial protein in blood" "isolated craniosynostosis" + "level of COX assembly mitochondrial protein in blood" "gynoecium development stage" "silicotuberculosis" "endoplasmic reticulum junction formation protein lunapark" @@ -20969,8 +20966,8 @@ "anthropometric measurement" "advanced glycation end-product measurement" "embryonic stage 1" - "familial melanoma" "reticular dystrophy of the retinal pigment epithelium" + "familial melanoma" "congenital lipoid adrenal hyperplasia due to STAR deficency" "vagal placode 4" "Streptomyces griseus subsp. griseus NBRC 13350" @@ -21103,8 +21100,8 @@ "GM14414" "obsolete_Acrokeratoelastoidosis of Costa" "24-dimethyl-5-vinylthiazole measurement" - "alpha-hydroxycaproate measurement" "Kaya-Barakat-Masson syndrome" + "alpha-hydroxycaproate measurement" "uridylate-specific endoribonuclease" "myosin regulatory light chain MRLC3" "cucurbitacin I 2-glucoside measurement" @@ -21114,8 +21111,8 @@ "Léri-Weill dyschondrosteosis" "BK polyomavirus" "muscle system process" - "GPI anchor biosynthetic process" "primary short bowel syndrome" + "GPI anchor biosynthetic process" "bowel dysfunction" "Ebstein anomaly of the tricuspid valve" "migraine without aura, susceptibility to, 4" @@ -21126,8 +21123,8 @@ "X-linked intellectual disability - psychosis - macroorchidism" "phobic disorder" "caveolin-2 measurement" - "C4II" "obsolete_acroosteolysis-keloid-like lesions-premature aging syndrome" + "C4II" "annexin A1 measurement" "obsolete_apical ectodermal ridge pelvic fin bud" "Rare genetic skin disease" @@ -21200,17 +21197,17 @@ "Induced vaginal delivery" "cysts and fistulae of the face and oral cavity" "Liang-Wang syndrome" - "prediabetes syndrome" "unilateral multicystic dysplastic kidney" "obesity" "Caco-2/TC7" + "prediabetes syndrome" "spondyloepiphyseal dysplasia with congenital joint dislocations" "level of beclin-1 in blood serum" "GTI-Seq" "prion-like protein doppel" "congenital tracheal stenosis" - "deafness-lymphedema-leukemia syndrome" "extracellular superoxide dismutase [Cu-Zn] measurement" + "deafness-lymphedema-leukemia syndrome" "retinal dehydrogenase 2" "Junin virus" "SSRI use measurement" @@ -21256,10 +21253,10 @@ "level of D-dopachrome decarboxylase in blood serum" "49,XXXYY syndrome" "chronic interstitial cystitis" + "concentration of large HDL particles measurement" "Abnormal blood glucose concentration" "level of LIM domain kinase 1 in blood serum" "ONT GridION X5" - "concentration of large HDL particles measurement" "hyper-IgM syndrome" "forkhead box protein M1" "Adenoid Cystic Breast Carcinoma" @@ -21309,8 +21306,8 @@ "2-hydroxystearate measurement" "obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature" "obsolete_diazoxide-resistant diffuse hyperinsulinism" - "obsolete_Atlas Quality Control type" "UPF0454 protein C12orf49 measurement" + "obsolete_Atlas Quality Control type" "white matter hyperintensity measurement" "X-linked spondyloepimetaphyseal dysplasia" "zinc finger protein 180 measurement" @@ -21330,8 +21327,8 @@ "obsolete_classic pantothenate kinase-associated neurodegeneration" "frontal lobe ependymal tumor" "phenol glucuronide measurement" - "RKN" "level of vesicle-associated membrane protein-associated protein B/C in blood serum" + "RKN" "Generalized pseudohypoaldosteronism type 1" "obsolete_bradyopsia" "probable ATP-dependent RNA helicase DDX4" @@ -21390,9 +21387,9 @@ "response to anthracycline-based chemotherapy" "hexanoylcarnitine-to-octanoylcarnitine ratio" "familial pterygium of the conjunctiva" - "1-palmitoyl-2-palmitoleoyl-GPC(16:0/16:1) measurement" "thrombospondin type-1 domain-containing protein 1" "receptor-type tyrosine-protein phosphatase delta" + "1-palmitoyl-2-palmitoleoyl-GPC(16:0/16:1) measurement" "protein shisa-3 homolog measurement" "Aplasia/Hypoplasia of the phalanges of the 4th toe" "Carassius auratus" @@ -21409,10 +21406,10 @@ "LXF-289" "Micropapillary Serous Carcinoma" "endothelin-1" - "obsolete_trisomy 17p" "presumptive pronephric mesoderm" "level of peroxisome proliferator-activated receptor gamma coactivator 1-alpha in blood serum" "1-methyladenosine" + "obsolete_trisomy 17p" "Eye Injuries, Penetrating" "pleckstrin homology domain-containing family A member 7 measurement" "traditional Korean medicine type"@en @@ -21604,8 +21601,8 @@ "tocopherol measurement" "level of BTB/POZ domain-containing protein KCTD7 in blood serum" "protein Z deficiency" - "obsolete_radicle" "cannabis dependence" + "obsolete_radicle" "obsolete_strain" "liver endoderm" "combined deficiency of factor V and factor VIII" @@ -21685,8 +21682,8 @@ "genome" "1-phosphatidylinositol 3-phosphate 5-kinase" "obsolete autosomal dominant hereditary axonal motor and sensory neuropathy" - "Ehlers-Danlos syndrome, kyphoscoliotic type 1" "2-hydroxyglutarate measurement"@en + "Ehlers-Danlos syndrome, kyphoscoliotic type 1" "congenital genu recurvatum" "autosomal recessive disease" "obsolete_hyperphalangy, bilateral" @@ -21703,8 +21700,8 @@ "obsolete_immuno-osseous dysplasia" "inflammation" "peripheral hypothyroidism" - "mucosa of large intestine" "vesiculobullous skin disease" + "mucosa of large intestine" "49,XXXXY syndrome" "Neu-Laxova syndrome" "obsolete rare strabismus and restriction syndrome" @@ -21730,8 +21727,8 @@ "Acrofacial dysostosis, Rodríguez type" "Hypospadias - intellectual disability, Goldblatt type" "ovarian squamous cell neoplasm" - "rectum cancer" "hypersensitivity pneumonitis" + "rectum cancer" "Caldicellulosiruptor bescii" "malignant cutaneous granular cell skin tumor" "early rosette growth stage" @@ -21740,8 +21737,8 @@ "origin recognition complex subunit 6" "poikiloderma with neutropenia" "obsolete_cerebral hemisphere" - "IgG digalactosylation measurement" "amyloid beta A4 precursor protein-binding family B member 2 measurement" + "IgG digalactosylation measurement" "beta-hydroxyisovalerate measurement" "arachidonic acid measurement" "Turner syndrome due to structural X chromosome anomalies" @@ -21855,14 +21852,14 @@ "hexanoylglutamine measurement" "lymphocyte antigen 96" "obsolete_Gitelman syndrome" - "vitamin B12- and folate-independent constitutional megaloblastic anemia" "obsolete_2q24 microdeletion syndrome" + "vitamin B12- and folate-independent constitutional megaloblastic anemia" "leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 3 measurement" + "chronic hepatic porphyria" + "HKB-11"@en "prolyl hydroxylase EGLN3" "protein S100-A10" "brain oligodendroglioma" - "HKB-11"@en - "chronic hepatic porphyria" "jaw disease" "level of pre-mRNA-splicing regulator WTAP in blood serum" "level of sorting nexin-27 in blood serum" @@ -21951,13 +21948,13 @@ "morbid obesity" "level of hepatocyte cell adhesion molecule in blood serum" "xyloside xylosyltransferase 1" - "Schrenkiella parvula" "Huntington disease" + "Schrenkiella parvula" "level of BET1-like protein in blood serum" "juvenile dermatomyositis" "obsolete_multiple intestinal atresia" - "complex cortical dysplasia with other brain malformations 1" "WM852 cell" + "complex cortical dysplasia with other brain malformations 1" "R-spondin-4 measurement" "peroneal artery" "papillary thymic adenocarcinoma" @@ -22028,8 +22025,8 @@ "embryonic central brain neuron" "obsolete_Atlas experiment type" "level of E3 ubiquitin-protein ligase SMURF1 in blood serum" - "gnathomiasis" "thyroid peroxidase antibody measurement" + "gnathomiasis" "Polysyndactyly" "level of Ras-related protein M-Ras in blood serum" "GTPase HRas" @@ -22054,18 +22051,18 @@ "SEM" "hepatic vein" "level of galactosylceramide sulfotransferase in blood serum" + "Musculoskeletal disease with cataract" "fatty acid metabolic process" "Zimmermann-Laband syndrome 1" - "Musculoskeletal disease with cataract" "immunodeficiency, developmental delay, and hypohomocysteinemia" "level of T-box transcription factor TBX22 in blood serum" "Elsahy-Waters syndrome" "histone-lysine N-methyltransferase, H3 lysine-79 specific" "obsolete_infantile Bartter syndrome with sensorineural deafness" "pyrraline measurement" - "prognostic subgroup" "pre-pro-epidermal growth factor" "diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency" + "prognostic subgroup" "Aortic root aneurysm" "muscular atrophy" "spastic ataxia" @@ -22102,14 +22099,14 @@ "obsolete_blastula stage" "tsangane l 3-glucoside measurement" "endometrioid stromal sarcoma of the vagina" + "3-hydroxypropylmercapturic acid measurement" "testin" "GM07022" - "3-hydroxypropylmercapturic acid measurement" "zinc finger protein 276" - "median nodule of the upper lip" "obsolete_brittle cornea syndrome" - "diet" + "median nodule of the upper lip" "susceptibility to partial acquired lipodystrophy"@en + "diet" "Rab-like protein 6" "scATAC-seq (cell index)" "level of DnaJ homolog subfamily C member 17 in blood serum" @@ -22128,8 +22125,8 @@ "phenylpyruvate measurement" "V-79" "obsolete_pupa" - "level of E3 ubiquitin-protein ligase DTX1 in blood serum" "Fascioliasis" + "level of E3 ubiquitin-protein ligase DTX1 in blood serum" "ocular siderosis" "prurigo nodularis" "semaphorin-3E measurement" @@ -22163,8 +22160,8 @@ "Clostridium baratii" "endothelin-2" "laminopathy type Decaudain-Vigouroux" - "plexin-A1 measurement" "homeobox protein TGIF2LX" + "plexin-A1 measurement" "obsolete congenital absence/hypoplasia of fingers excluding thumb, bilateral" "shc-transforming protein 1 measurement" "PEO1" @@ -22243,13 +22240,13 @@ "hypercementosis" "skin papilloma" "X-18935 measurement" - "Streptomyces coelicolor A3(2)" "killer cell immunoglobulin-like receptor 2DL2 measurement" + "Streptomyces coelicolor A3(2)" "level of T-cell-specific surface glycoprotein CD28 in blood" "level of dystroglycan 1 in blood serum" "benign neoplasm of adrenal gland" - "leukemia, acute lymphoblastic, susceptibility to, 3" "Hereditary vascular retinopathy" + "leukemia, acute lymphoblastic, susceptibility to, 3" "GM15850" "high mobility group protein 20A" "granular corneal dystrophy type II" @@ -22273,10 +22270,10 @@ "obsolete_episodic ataxia type 6" "growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant" "anaerobic balanitis" - "obsolete_COG7-CDG" "androgen" "level of fatty acid-binding protein 9 in blood serum" "protein C1orf43" + "obsolete_COG7-CDG" "level of thioredoxin domain-containing protein 15 in blood" "knee injury" "dihydrofolate reductase" @@ -22301,12 +22298,12 @@ "far red light regimen" "RELT-like protein 2" "obsolete_synpolydactyly type 3" - "free cholesterol to total lipids in large LDL percentage " "circulating cell free DNA measurement" "hyperlipidemia due to hepatic triglyceride lipase deficiency" + "free cholesterol to total lipids in large LDL percentage " "NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial" - "ubiquilin-2" "phosphatidylcholine 36:2" + "ubiquilin-2" "transferrin receptor protein 1" "level of platelet basic protein in blood serum" "phosphatidylcholine 40:3" @@ -22464,8 +22461,8 @@ "oculocerebrodental syndrome" "Escherichia fergusonii" "obsolete_pontocerebellar hypoplasia type 9" - "DNA-seq" "cholestasis, intrahepatic, of pregnancy 3" + "DNA-seq" "trait in response to phenytoin" "post-infectious syndrome" "perfluorodecanoic acid" @@ -22526,8 +22523,8 @@ "chromosome 5p13 duplication syndrome" "obsolete_SLC35A2-CDG" "non-obstructive coronary artery disease" - "obsolete_dystrophic epidermolysis bullosa pruriginosa" "double-stranded RNA-binding protein Staufen homolog 2" + "obsolete_dystrophic epidermolysis bullosa pruriginosa" "hypomyelination with brain stem and spinal cord involvement and leg spasticity" "NOME-Seq" "laryngeal neoplasm" @@ -22566,8 +22563,8 @@ "level of testis-specific serine/threonine-protein kinase 2 in blood serum" "obsolete_Feingold syndrome type 1" "CD44 antigen measurement" - "toxic diffuse goiter" "sulfotrasferase 1A1 measurement" + "toxic diffuse goiter" "apolipoprotein E isoform E2 measurement" "obsolete_anterior lateral line ganglion" "ependymal cell" @@ -22609,8 +22606,8 @@ "level of AT-rich interactive domain-containing protein 3C in blood serum" "X-14625 measurement" "Kallmann syndrome" - "MEHMO syndrome" "Rolandic epilepsy - speech dyspraxia" + "MEHMO syndrome" "GNPTAB-mucolipidosis" "benserazide" "glycoprotein hormones alpha chain measurement" @@ -22701,14 +22698,14 @@ "adrenal suppression measurement" "Kaposi's sarcoma" "obsolete_rhizomelic chondrodysplasia punctata type 2" - "obsolete_congenital short bowel syndrome" "collagen alpha-1(I) chain" - "obsolete_seborrhea-like dermatitis with psoriasiform elements" + "obsolete_congenital short bowel syndrome" "D04 cell" "Enchytraeus albidus" - "MHH-NB-11" + "obsolete_seborrhea-like dermatitis with psoriasiform elements" "central nervous system fibrosarcoma" "fallopian tube papillary adenocarcinoma" + "MHH-NB-11" "level of protein S100-A5 in blood serum" "Ichthyosis-hypotrichosis syndrome" "TP53-regulated inhibitor of apoptosis 1" @@ -22763,8 +22760,8 @@ "level of T-box transcription factor TBX3 in blood serum" "Parse Evercode Whole Transcriptome v2"@en "level of maspardin in blood serum" - "level of ankyrin repeat domain-containing protein 16 in blood serum" "2s,3R-dihydroxybutyrate measurement" + "level of ankyrin repeat domain-containing protein 16 in blood serum" "cell type comparison design" "O-cresol sulfate measurement" "1-arachidonoyl-sn-glycero-3-phosphoethanolamine" @@ -22827,10 +22824,10 @@ "obsolete_mosaic trisomy 8" "openness measurement" "partial duplication of chromosome 8" - "obsolete_Tessier number 5 facial cleft" "C-X-C motif chemokine 11 measurement" "obsolete_endothelium" "SLC35A1-congenital disorder of glycosylation" + "obsolete_Tessier number 5 facial cleft" "Escherichia coli K-12" "margarate" "synaptonemal complex central element protein 1-like" @@ -22872,8 +22869,8 @@ "poly(A) RNA polymerase, mitochondrial measurement" "PEO14" "obsolete aggrecan-related bone disorder" - "kidney carcinoma in situ" "gastrointestinal disease"@en + "kidney carcinoma in situ" "Micropterus salmoides" "progesterone" "Hordeum vulgare" @@ -22891,8 +22888,8 @@ "X-21310 measurement" "hematopoietic oligopotent progenitor cell" "frontometaphyseal dysplasia 2" - "level of ATP-dependent RNA helicase DDX19A in blood serum" "obsolete_apical ectodermal ridge dorsal fin" + "level of ATP-dependent RNA helicase DDX19A in blood serum" "autoimmune disease" "BPI fold-containing family A member 1" "Illumina iSeq 100" @@ -22942,9 +22939,9 @@ "testicular fibroma" "benign neoplasm of thymus" "level of T-complex protein 1 subunit alpha in blood serum" + "Rare genetic tremor disorder" "plantar part of pes" "sodium cholate" - "Rare genetic tremor disorder" "Abnormal upper limb bone morphology" "E3 SUMO-protein ligase PIAS4 measurement" "Glomerular sclerosis" @@ -22962,9 +22959,9 @@ "level of WW domain-binding protein 2 in blood serum" "RMUG-S" "melanocortin-2 receptor accessory protein measurement" - "obsolete_WAGR syndrome" "RERF-LC-AI" "U-178MG" + "obsolete_WAGR syndrome" "level of E3 ubiquitin-protein ligase RNF146 in blood serum" "Familial drusen" "autosomal dominant nonsyndromic hearing loss 1" @@ -23028,9 +23025,9 @@ "antecubital pterygium syndrome" "adult polyglucosan body disease" "level of protein HEXIM1 in blood serum" + "obsolete_pyruvate carboxylase deficiency, benign type" "1-palmitoyl-2-eicosapentaenoyl-GPC (16:0/20:5) measurement" "level of GMP reductase 2 in blood" - "obsolete_pyruvate carboxylase deficiency, benign type" "protein syndesmos measurement" "obsolete_acro-renal-mandibular syndrome" "level of protein disulfide-isomerase A2 in blood" @@ -23039,17 +23036,17 @@ "t-box transcription factor TBX22 measurement" "small intestine serosal dendritic cell" "mercury dichloride" - "stabilin-1 measurement" "dasatinib (anhydrous)" "cataract 46 juvenile-onset" + "stabilin-1 measurement" "obsolete_Charlie M syndrome" "neuronal ceroid lipofuscinosis 7" "obsolete_oblique facial cleft" "Synechococcus phage S-RSM2" "level of signal recognition particle 14 kDa protein in blood" "apolipoprotein c-III deficiency" - "CYFIP-related Rac1 interactor A" "MCF10DCIS.COM" + "CYFIP-related Rac1 interactor A" "ubiquilin-3" "pancreatic endoderm" "endothelin-3" @@ -23082,8 +23079,8 @@ "GRB2-related adapter protein" "Osteoporosis - pseudoglioma" "1-palmitoyl-2-linoleoyl-GPE (16:0/18:2) measurement" - "pregnancy-specific beta-1-glycoprotein 6" "BMI-adjusted adiponectin measurement" + "pregnancy-specific beta-1-glycoprotein 6" "cask-related x-linked intellectual disability"@en "chronic progressive multiple sclerosis" "level of parathyroid hormone/parathyroid hormone-related peptide receptor in blood serum" @@ -23112,13 +23109,13 @@ "lymphocyte antigen 6 complex locus protein G6c" "obsolete_rib" "level of succinate dehydrogenase assembly factor 1, mitochondrial in blood serum" - "Anal Melanoma" "Fusarium equiseti" "level of tyrosine-protein phosphatase non-receptor type 7 in blood serum" + "Anal Melanoma" "extracellular tyrosine-protein kinase PKDCC" "level of endothelin-3 in blood serum" - "5-HEPE measurement" "3T6-Swiss albino cell" + "5-HEPE measurement" "Ile-Gly" "obsolete_palpebral lentiginosis" "Gr1-low non-classical monocyte" @@ -23132,10 +23129,10 @@ "obsolete_mitochondrial DNA depletion syndrome, myopathic form" "ulnar/fibula ray defect-brachydactyly syndrome" "level of deleted in malignant brain tumors 1 protein in blood serum" + "aortic malformation" "organic heterocyclic compound" "level of collagen alpha-1(XVIII) chain in blood" "Absent pubic hair" - "aortic malformation" "autonomic neuropathy" "Gossypium arboreum" "blue rubber bleb nevus" @@ -23152,9 +23149,9 @@ "obsolete_porokeratosis plantaris palmaris et disseminata" "Total autosomal trisomy" "obsolete_agammaglobulinemia" + "Color-vision disease" "free cholesterol to total lipids in medium LDL percentage " "level of NPC intracellular cholesterol transporter 2 in blood" - "Color-vision disease" "type II NK T cell secreting interleukin-4" "trichothiodystrophy 3, photosensitive" "Sphingomyelin (d18:1/22:1, d18:2/22:0, d16:1/24:1) measurement" @@ -23253,26 +23250,26 @@ "obsolete_Hypohidrotic ectodermal dysplasia" "level of protein FEV in blood serum" "Autosomal dominant beta2-microglobulinic amyloidosis" - "herpes simplex encephalitis, susceptibility to, 3" "obsolete_autosomal recessive distal myopathy" "Anaplastic (Malignant) Meningioma" + "herpes simplex encephalitis, susceptibility to, 3" "polydactyly-syndactyly-triphalangism" "Poroma" "lissencephaly with cerebellar hypoplasia type C" "anti-meningococcal C serum bactericidal antibody measurement" "1,9-dideoxyforskolin" "chromosome 17q11.2 deletion syndrome, 1.4Mb" + "synaptotagmin-3 measurement" "proximal" "Archaea" - "synaptotagmin-3 measurement" "Incomplete partition of the cochlea type II" "MAM domain-containing protein 2" "level of basement membrane-specific heparan sulfate proteoglycan core protein in blood" "gamma-Glu-Val" "WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2 measurement" "level of syntaxin-16 in blood" - "Hypoglossia - hypodactyly" "obsolete_RFT1-CDG" + "Hypoglossia - hypodactyly" "autosomal dominant titinopathy" "CS57705" "Low alkaline phosphatase" @@ -23284,11 +23281,11 @@ "obsolete_fine-Lubinsky syndrome" "pain agnosia" "X-03088 measurement" - "NS-seq" - "interferon-inducible protein AIM2" "vegetative shoot apex" - "galanin-like peptide" + "interferon-inducible protein AIM2" "Duane-radial ray syndrome" + "NS-seq" + "galanin-like peptide" "beta-1,4-galactosyltransferase 6" "nucleobindin-1" "CE(22:6)" @@ -23445,9 +23442,9 @@ "Biliary atresia" "Rare pervasive developmental disorder" "obsolete_hereditary angioedema type 1" - "obsolete_otomandibular dysplasia" "GM00144" "Austrofundulus limnaeus" + "obsolete_otomandibular dysplasia" "Abnormal occipital bone morphology" "congenital muscular dystrophy with cerebellar involvement" "neurexin-3-beta measurement" @@ -23479,13 +23476,13 @@ "malignant tumor of parathyroid gland" "stromal cell-derived factor 2" "dissociation measurement" - "frozen shoulder" "monosomy 7 myelodysplasia and leukemia syndrome 1" "carboxypeptidase A2 measurement" + "frozen shoulder" "leucine-rich repeat LGI family member 3 measurement" + "interleukin-12 receptor subunit beta-1 measurement" "tropanyl 3,5-dimethylbenzoate" "macrocephaly-spastic paraplegia-dysmorphism syndrome" - "interleukin-12 receptor subunit beta-1 measurement" "digestive tract malformation" "3-Indoxylsulfate measurement" "heart process" @@ -23504,10 +23501,10 @@ "acrodysostosis" "piebaldism" "level of T-box transcription factor TBX5 in blood serum" + "Parse Evercode Whole Transcriptome v3"@en "embryonic day 13" "childhood pilocytic astrocytoma" "bronchiectasis with or without elevated sweat chloride 1" - "Parse Evercode Whole Transcriptome v3"@en "protein DPCD" "carboxymethylenebutenolidase" "Abnormal larynx morphology" @@ -23586,8 +23583,8 @@ "obsolete_vagus nerve" "Escherichia coli O157:H7" "centrin-2" - "mucin‐16 measurement"@en "trypsinogen deficiency" + "mucin‐16 measurement"@en "formin-like protein 1" "autosomal dominant spastic paraplegia type 9" "ETS translocation variant 2" @@ -23634,8 +23631,8 @@ "fungal myositis" "inborn glycerol kinase deficiency" "Lambert syndrome" - "16-hydroxyhexadecanoate" "congenital afibrinogenemia" + "16-hydroxyhexadecanoate" "alcoholic liver cirrhosis" "obsolete_anterior midgut primordium" "level of guanine nucleotide-binding protein G(T) subunit gamma-T1 in blood" @@ -23651,8 +23648,8 @@ "Aedes albopictus" "syntaxin-6 measurement" "urgency urinary incontinence" - "naive thymus-derived CD4-positive, alpha-beta T cell" "insect dorsal imaginal precursor" + "naive thymus-derived CD4-positive, alpha-beta T cell" "454 GS sequencer" "postaxial polydactyly type A, bilateral" "immunodeficiency 72 with autoinflammation" @@ -23666,8 +23663,8 @@ "(S)-2-hydroxyoctadecanoate" "Gait ataxia" "Isolated follicle stimulating hormone deficiency" - "level of transcription elongation factor A protein-like 5 in blood serum" "Sezary's disease" + "level of transcription elongation factor A protein-like 5 in blood serum" "Myocardial necrosis" "hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome" "DNA repair endonuclease XPF" @@ -23724,8 +23721,8 @@ "obsolete_Gollop-Wolfgang complex" "4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase FUT5" "Streptococcus pseudopneumoniae" - "90C" "benign recurrent intrahepatic cholestasis type 1" + "90C" "Pinus radiata" "level of fumarylacetoacetase in blood serum" "level of E3 ubiquitin-protein ligase RNF149 in blood serum" @@ -23737,9 +23734,9 @@ "hepatitis B virus infection" "future forebrain" "level of signal-regulatory protein gamma in blood serum" - "obsolete_N syndrome" "ciglitazone" "basophilic metamyelocyte" + "obsolete_N syndrome" "Autosomal recessive spastic paraplegia type 24" "1-palmitoyl-2-arachidonoyl-GPE (16:0/20:4) measurement" "high fat diet" @@ -23755,11 +23752,11 @@ "lymph node tuberculosis" "trait in response to Triptolide" "spinocerebellar ataxia type 6" - "Flavivirus Infections" "gallstones" "response to cold" "AKR-2B" "level of phosphopantothenate--cysteine ligase in blood serum" + "Flavivirus Infections" "immature CD14-positive dermal dendritic cell" "level of serine/arginine-rich splicing factor 7 in blood serum" "phosphatidylcholine 40:1" @@ -24011,7 +24008,6 @@ "X-03094 measurement" "pulmonary venoocclusive disease" "analyte role"@en - "analyte role" "8-methoxykynurenate measurement" "level of profilin-4 in blood serum" "obsolete_Joubert syndrome with Jeune asphyxiating thoracic dystrophy" @@ -24042,11 +24038,11 @@ "Alopecia-intellectual disability syndrome" "estrone measurement" "Ceratopteris thalictroides" + "antithrombin-III measurement" "triacylglycerol 50:1 measurement"@en "level of Phosphatidylcholine (O-18:0_20:4) in blood serum" "pantetheinase" "vagina" - "antithrombin-III measurement" "Houge-Janssens syndrome" "Fractured hand bones" "ermine phenotype" @@ -24079,9 +24075,9 @@ "Dulcitol measurement" "Unverricht-Lundborg disease" "Hemoptysis" + "tumor necrosis factor ligand superfamily member 18 measurement" "hereditary thrombophilia due to congenital protein C deficiency" "pancreatic triacylglycerol lipase deficiency" - "tumor necrosis factor ligand superfamily member 18 measurement" "3-Indolepropionic acid to L-Pipecolic acid ratio" "atypical Werner syndrome" "microcephalic osteodysplastic dysplasia, Saul-Wilson type" @@ -24224,8 +24220,8 @@ "obsolete_familial hyperreninemic hypoaldosteronism type 2" "COX assembly mitochondrial protein" "autoimmune disorder of musculoskeletal system" - "tyrosine-protein kinase YES measurement" "obsolete_partial trisomy/tetrasomy of chromosome 18" + "tyrosine-protein kinase YES measurement" "obsolete_progressive familial intrahepatic cholestasis type 3" "spinocerebellar ataxia type 25" "combined malonic and methylmalonic acidemia" @@ -24258,8 +24254,8 @@ "level of chloride intracellular channel protein 4 in blood serum" "obsolete syndrome with limb malformations as a major feature" "Elevated diastolic blood pressure" - "obsolete_ventral nerve cord" "Leydig cell hypoplasia due to LHB deficiency" + "obsolete_ventral nerve cord" "myxothiazol" "eukaryotic translation initiation factor 4E" "Bm3 B cell" @@ -24273,9 +24269,9 @@ "GM12717" "thymic neuroendocrine carcinoma" "level of eukaryotic-type phenylalanine--tRNA ligase alpha subunit in blood" - "obsolete_hypotrichosis simplex" "X-linked intellectual disability-cubitus valgus-dysmorphism syndrome" "p53 and DNA damage-regulated protein 1" + "obsolete_hypotrichosis simplex" "phosphatidylcholine acyl-alkyl C40:4 measurement" "t-tau:beta-amyloid 1-42 ratio measurement" "ataxia-pancytopenia syndrome" @@ -24342,9 +24338,9 @@ "nucleophosmin" "group IIe secretory phospholipase A2 measurement" "Hepatic fibrosis - renal cysts - intellectual disability" - "alcoholic neuropathy" "biliary liver cirrhosis" "aganglionosis, total intestinal" + "alcoholic neuropathy" "X-22775 measurement" "Rho GDP-dissociation inhibitor 2" "stavudine" @@ -24396,26 +24392,26 @@ "Lactobacillus frumenti" "eyelid degenerative disorder" "nucleolin" + "Ocular albinism with congenital sensorineural deafness" "level of death-associated protein 1 in blood serum" "level of MARVEL domain-containing protein 2 in blood serum" "collecting specimen from organ postmortem" "intraocular medulloepithelioma" "high mobility group protein HMGI-C" - "Ocular albinism with congenital sensorineural deafness" "trait in response to venlafaxine" "level of leucine-rich repeat-containing protein 75A in blood serum" "Thermotoga petrophila" + "obsolete_postaxial acrofacial dysostosis" "cornea plana 2" "hemochromatosis type 3" "spinocerebellar ataxia type 2" "myocardium of ventricle" - "obsolete_postaxial acrofacial dysostosis" "endometrial endometrioid adenocarcinoma, variant with squamous differentiation" - "129P3/J"@en "RN33B" - "level of surfactant-associated protein 2 in blood serum" + "129P3/J"@en "pancreatic mucinous cystadenoma" "mature CD14-positive dermal dendritic cell" + "level of surfactant-associated protein 2 in blood serum" "segmentation 5-9 somites" "odontotrichomelic syndrome" "Autosomal dominant deafness-onychodystrophy syndrome" @@ -24486,8 +24482,8 @@ "docosahexaenoic acid measurement" "GM14432" "lipoteichoic acid" - "endoplasmic reticulum" "Genetic syndromic esophageal malformation" + "endoplasmic reticulum" "Insulinogenic index measurement" "Ixodes scapularis" "level of butyrophilin subfamily 1 member A1 in blood serum" @@ -24513,8 +24509,8 @@ "level of teneurin-3 in blood serum" "Neisseria" "augurin" - "squamous epithelial cell" "complexin-3" + "squamous epithelial cell" "obsolete_Infantile hypophosphatasia" "level of receptor-type tyrosine-protein phosphatase delta in blood serum" "hypoxanthine measurement"@en @@ -24673,7 +24669,6 @@ "otodental syndrome" "Angioleiomyoma" "Familial renal amyloidosis due to fibrinogen A alpha-chain variant" - "obsolete_brain dopamine-serotonin vesicular transport disease" "obsolete_congenital achiasma" "level of collagen alpha-2(XI) chain in blood serum" "3-ketoacyl-CoA thiolase, peroxisomal" @@ -24682,6 +24677,7 @@ "obstructive hydrocephalus" "Birt-Hogg-Dube syndrome" "cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism" + "obsolete_brain dopamine-serotonin vesicular transport disease" "energy intake measurement" "prostate carcinoma" "obsolete_hyper-IgM syndrome type 5" @@ -24695,8 +24691,8 @@ "Metabolic disease due to other fatty acid oxidation disorder" "peroxisome biogenesis disorder, complementation group 7"@en "obsolete_bone of lower extremity" - "Familial cold urticaria" "insulin-resistance syndrome type A" + "Familial cold urticaria" "primary biliary cirrhosis" "prolylproline measurement" "Smith-McCort dysplasia 1" @@ -24713,12 +24709,12 @@ "metaphyseal anadysplasia" "interferon alpha 2a" "nemaline myopathy 5B, autosomal recessive, childhood-onset" + "response to endocrine therapy" "phagocytosis" "sexually immature stage" "level of transcription initiation factor TFIID subunit 10 in blood serum" "chondrodysplasia" "wortmannin" - "response to endocrine therapy" "Pseudomonas aeruginosa" "N1E-115" "level of growth hormone-releasing hormone receptor in blood" @@ -24773,8 +24769,8 @@ "EEG with temporal focal spikes" "inherited susceptibility to mycobacterial diseases" "obsolete_familial primary hypomagnesemia with normocalcuria" - "level of protein tyrosine phosphatase type IVA 3 in blood serum" "obsolete_familial atypical multiple mole melanoma syndrome" + "level of protein tyrosine phosphatase type IVA 3 in blood serum" "LP.14 fourteen leaves visible stage" "thyroid hormone resistance syndrome" "assay by array" @@ -24799,8 +24795,8 @@ "carbohydrate derivative biosynthetic process" "oculodental syndrome, Rutherfurd type" "qualitative or quantitative defects of alphaB-cristallin" - "obsolete_punctate palmoplantar keratoderma type 1" "NKG2-A/NKG2-B type II integral membrane protein" + "obsolete_punctate palmoplantar keratoderma type 1" "obsolete_bulbus arteriosus" "21q22.11q22.12 microdeletion syndrome" "plastid" @@ -24848,8 +24844,8 @@ "adenosquamous lung carcinoma" "uroporphyrinogen-III synthase" "ran-binding protein 3 measurement" - "46,XY sex reversal 1" "level of cholesterol ester 16:0 in blood" + "46,XY sex reversal 1" "obsolete_periventricular nodular heterotopia" "obsolete_maternally-inherited progressive external ophthalmoplegia" "obsolete_ichthyosis-cheek-eyebrow syndrome" @@ -24976,12 +24972,12 @@ "upstream stimulatory factor 1" "bladder lymphoma" "total cholesterol in small LDL" + "achievement of target heart rate, self-reported" "isolated Pierre-Robin syndrome" "p-tau:beta-amyloid 1-42 ratio measurement" - "achievement of target heart rate, self-reported" "transcription factor E2F5" - "level of Sphingomyelin (d40:2) in blood serum" "stage 5 chronic kidney disease" + "level of Sphingomyelin (d40:2) in blood serum" "level of uncharacterized protein C1orf226 (human) in blood serum" "spinocerebellar ataxia 27A" "nociceptive flexion reflex threshold"@en @@ -25052,8 +25048,8 @@ "obsolete rare hereditary disease with peripheral neuropathy" "Lauric acid measurement" "Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure" - "tripartite motif-containing protein 3" "anal gland neoplasm" + "tripartite motif-containing protein 3" "acetyl-coenzyme A thioesterase" "primary qualitative or quantitative defects of alpha-dystroglycan" "Anemonia viridis" @@ -25174,8 +25170,8 @@ "chitin" "sialic acid transmembrane transporter activity" "level of fibronectin type III domain-containing protein 4 in blood serum" - "level of nitric oxide synthase, endothelial in blood serum" "obsolete insect visual anlage in statu nascendi" + "level of nitric oxide synthase, endothelial in blood serum" "obsolete_duodenum" "sub-cortical nodular heterotopia" "lipid change measurement" @@ -25274,8 +25270,8 @@ "Myotonia" "mitochondrial import inner membrane translocase subunit Tim10" "phosphoglycerate kinase 1 measurement" - "Clinodactyly of the 4th toe" "carotid atherosclerosis" + "Clinodactyly of the 4th toe" "X-linked cerebellar ataxia" "Lactococcus lactis subsp. hordniae" "BOS complex subunit NCLN" @@ -25286,8 +25282,8 @@ "level of microtubule-associated serine/threonine-protein kinase 4 in blood serum" "abnormal result of function studies" "Mirror polydactyly - vertebral segmentation - limbs defects" - "level of protein FAM221B in blood serum" "obsolete_Rare genetic myoclonus" + "level of protein FAM221B in blood serum" "level of atrial natriuretic peptide receptor 1 in blood" "obsolete_Glycosylated Hemoglobin Measurement" "extraembryonic membrane" @@ -25342,8 +25338,8 @@ "level of eukaryotic-type peptidyl-prolyl cis-trans isomerase C in blood serum" "Sandhoff disease" "obsolete_Alagille syndrome" - "level of microtubule-associated protein RP/EB family member 2 in blood serum" "obsolete_Glycogen storage disease due to muscle phosphofructokinase deficiency" + "level of microtubule-associated protein RP/EB family member 2 in blood serum" "nemaline myopathy 3" "purine ribonucleoside metabolic process" "level of growth-regulated alpha protein in blood serum" @@ -25396,8 +25392,8 @@ "hair shaft" "negative regulation of saliva secretion" "probable global transcription activator SNF2L2" - "malignant hypertension" "level of collagen alpha-1(XIII) chain in blood serum" + "malignant hypertension" "level of elongation factor 1-alpha 1 in blood serum" "autosomal recessive Emery-Dreifuss muscular dystrophy" "184-hTERT" @@ -25405,8 +25401,8 @@ "level of endonuclease 8-like 2 in blood serum" "ilium" "Ureter Carcinoma" - "hyperostosis corticalis generalisata" "X-12253 measurement" + "hyperostosis corticalis generalisata" "malignant vaginal mixed epithelial and mesenchymal neoplasm" "citrullinemia" "glycosyl-N-stearoyl-sphingosine (d18:1/18:0) measurement" @@ -25416,24 +25412,24 @@ "cell population proliferation" "minute" "Genetic obesity" - "streptococcus seropositivity" "presynaptic congenital myasthenic syndrome" "COV644" "Lactic acidosis" "SD minus nitrogen" "testis sarcoma" + "streptococcus seropositivity" "syntaxin-12" "transmembrane protein PVRIG" "LP.10 ten leaves visible stage" - "Primary bone dysplasia with decreased bone density" "remission" "N-cinnamoylglycine" "chickenpox" "level of ubiquitin thioesterase otulin in blood serum" "ulnar hypoplasia-split foot syndrome" + "Primary bone dysplasia with decreased bone density" "obsolete_spiracle" - "obsolete congenital intestinal transport defect" "level of carboxypeptidase Q in blood serum" + "obsolete congenital intestinal transport defect" "interferon beta" "obsolete_hereditary gingival fibromatosis" "asthma exacerbation measurement" @@ -25483,12 +25479,12 @@ "esophageal leukoplakia" "triclosan measurement"@en "factor V and factor VIII, combined deficiency of, type 1" - "Gluconic acid measurement" "visceral:gluteofemoral adipose tissue ratio measurement" + "Gluconic acid measurement" "GES-1" "obsolete_hypotrichosis-intellectual disability, Lopes type" - "serum IgM measurement" "Autoimmune polyendocrinopathy type 1" + "serum IgM measurement" "obsolete_bathing suit ichthyosis" "Pneumothorax" "axial mesoderm" @@ -25533,10 +25529,10 @@ "microfibril-associated glycoprotein 3" "Col-4" "obsolete_non-dystrophic myopathy" + "otitis media, susceptibility to" "methylmalonic acidemia with homocystinuria, type cblJ" "pulmonary valve" "autosomal dominant non-syndromic intellectual disability" - "otitis media, susceptibility to" "obsolete_foreskin" "autism, susceptibility to, X-linked 3" "asialoglycoprotein receptor 2" @@ -25632,22 +25628,22 @@ "level of hydroxysteroid dehydrogenase-like protein 2 in blood serum" "X-linked intellectual disability - cubitus valgus - dysmorphism" "interleukin 5 receptor subunit alpha measurement" + "Primary dystonia, DYT6 type" "protein S100-A16" "non-melanoma skin carcinoma" - "Primary dystonia, DYT6 type" - "Cabbage leaf curl virus" "obsolete_distal trisomy 13q" + "Cabbage leaf curl virus" "cerebrofacial arteriovenous metameric syndrome" "pleural effusion" "AT3ABR cell" "level of selenoprotein W in blood serum" "P5CS deficiency" - "obsolete_Marshall syndrome" - "A/J" "obsolete_neck" "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2" + "obsolete_Marshall syndrome" "Saccharomyces pastorianus Weihenstephan 34/70" "Atelis syndrome 2" + "A/J" "thrombocytopenia-absent radius syndrome" "leiomyosarcoma of the cervix uteri" "heneicosapentaenoate (21:5n3) measurement" @@ -25665,8 +25661,8 @@ "pancreatic neuroendocrine tumor G1" "upstream stimulatory factor 2" "distal 22q11.2 microduplication syndrome" - "1-(1-enyl-palmitoyl)-2-palmitoyl-GPC (P-16:0/16:0) measurement" "proplastid" + "1-(1-enyl-palmitoyl)-2-palmitoyl-GPC (P-16:0/16:0) measurement" "complement factor H-related protein 2 measurement" "sulfotransferase 6B1" "bringing up phlegm, sputum or mucus on most days, self-reported" @@ -25721,13 +25717,13 @@ "nasal cavity adenocarcinoma" "pilocytic astrocytoma" "autosomal recessive syndromic cerebellar ataxia" - "SLIT and NTRK-like protein 3" "HIV-Associated Lipodystrophy Syndrome" + "SLIT and NTRK-like protein 3" "right ventricular diastolic volume measurement"@en "fructose-1,6-bisphosphatase isozyme 2" + "myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy" "level of Sterol ester (27:1/22:6) in blood serum" "congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome" - "myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy" "Hand muscle atrophy" "Clostridium acetobutylicum ATCC 824" "transcription initiation factor IIA subunit 2" @@ -25754,11 +25750,11 @@ "level of hamartin in blood" "malunion fracture" "Hirschsprung disease - type D brachydactyly" - "obsolete_Charcot-Marie-Tooth disease type 1F" "Vaginal Carcinosarcoma" "gastrointestinal lymphoma" "level of laminin subunit alpha-3 in blood serum" "scavenger receptor class B member 1" + "obsolete_Charcot-Marie-Tooth disease type 1F" "adapter SH3BGRL" "platelet-activating factor acetylhydrolase IB subunit alpha1" "length unit" @@ -25806,8 +25802,8 @@ "amyloid deposition measurement" "minimal pigment oculocutaneous albinism type 1" "Robin sequence-oligodactyly syndrome" - "N-fatty-acyl-amino acid synthase/hydrolase PM20D1" "N231" + "N-fatty-acyl-amino acid synthase/hydrolase PM20D1" "level of integral membrane protein 2B in blood serum" "4-hydroxy-2-oxoglutaric acid measurement" "Simpson-Golabi-Behmel syndrome" @@ -25842,8 +25838,8 @@ "CD4-positive T-lymphocyte count" "Granulocytopenia" "Deafness - encephaloneuropathy - obesity - valvulopathy" - "alpha-crystallin A chain measurement" "progonadoliberin-1" + "alpha-crystallin A chain measurement" "putative adhesion G protein-coupled receptor F2P" "GM17806" "glycerophosphocholine phosphodiesterase GPCPD1" @@ -25921,8 +25917,8 @@ "level of BTB/POZ domain-containing protein KCTD2 in blood serum" "future internal carotid artery" "LysoPA 16:0 measurement" - "Amniotic bands" "bipolar I disorder" + "Amniotic bands" "Talipes cavus equinovarus" "permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome" "level of Golgi-associated PDZ and coiled-coil motif-containing protein in blood" @@ -25932,12 +25928,12 @@ "serine protease HTRA1" "autoimmune thrombocytopenia" "Vitis sp. cv. 'Norton'" + "Non-progressive cerebellar ataxia with intellectual disability" "level of cone-rod homeobox protein in blood" "obsolete response to paclitaxel" - "Non-progressive cerebellar ataxia with intellectual disability" "obsolete_myostatin-related muscle hypertrophy" - "cyclic nucleotide-gated olfactory channel" "Pleural Epithelioid Mesothelioma" + "cyclic nucleotide-gated olfactory channel" "2P-Seq" "level of epidermal growth factor receptor in blood serum" "hypertrophic cardiomyopathy 7" @@ -25955,8 +25951,8 @@ "glycine" "nucleobase-containing small molecule metabolic process" "peptidyl-prolyl cis-trans isomerase-like 1" - "level of thioredoxin-related transmembrane protein 1 in blood serum" "parasitic eye infection" + "level of thioredoxin-related transmembrane protein 1 in blood serum" "renal tubular dysgenesis of genetic origin" "acetoacetyl-CoA synthetase" "Neisseria flavescens" @@ -26080,8 +26076,8 @@ "Warsaw breakage syndrome" "obsolete_ductal adenocarcinoma" "1-(1-enyl-stearoyl)-2-oleoyl-GPC (P-18:0/18:1) measurement" - "polyphosphoinositide phosphatase" "congenital bilateral aplasia of vas deferens from CFTR mutation" + "polyphosphoinositide phosphatase" "vasa recta" "obsolete_regenerating fin" "level of peptidyl-prolyl cis-trans isomerase G in blood serum" @@ -26092,8 +26088,8 @@ "level of microtubule-associated protein RP/EB family member 3 in blood serum" "bridging integrator 3" "autosomal dominant progressive nephropathy with hypertension" - "cGMP-dependent protein kinase 1" "1q21.1 microdeletion syndrome" + "cGMP-dependent protein kinase 1" "rieske domain-containing protein" "level of collagen alpha-1(XV) chain in blood serum" "ectonucleoside triphosphate diphosphohydrolase 2" @@ -26102,9 +26098,9 @@ "inborn errors of metabolism" "X-12261 measurement" "biotin metabolic disease" - "inosine-5'-monophosphate dehydrogenase 1 measurement" "PDZ domain-containing protein GIPC3" "NCI-H1563" + "inosine-5'-monophosphate dehydrogenase 1 measurement" "pineal body neoplasm" "hyperuricemia" "diabetes mellitus, transient neonatal, 3" @@ -26142,9 +26138,9 @@ "454 Sequencing" "microcephaly, seizures, and developmental delay" "neugrin" - "cystadenocarcinoma" "synaptic congenital myasthenic syndrome" "SC" + "cystadenocarcinoma" "aldosterone-producing adenoma with seizures and neurological abnormalities" "bile duct sarcoma" "syntaxin-16" @@ -26173,11 +26169,11 @@ "level of leukotriene B4 receptor 1 in blood serum" "epidermolysis bullosa simplex due to plakophilin deficiency" "Schizoaffective disorder-bipolar type" - "docosapentaenoic acid" "triacylglycerol 56:6 measurement"@en + "docosapentaenoic acid" + "level of nucleolar protein 16 in blood" "ubiquitin carboxyl-terminal hydrolase 11" "eye lymphoma" - "level of nucleolar protein 16 in blood" "level of Phosphatidylinositol (16:0_18:1) in blood serum" "guanine nucleotide-binding protein G(i) subunit alpha-3" "obsolete_2q31.1 microdeletion syndrome" @@ -26217,14 +26213,14 @@ "BHP5-16" "benign colon neoplasm" "pneumonic plague" - "lumbar disc degeneration" "level of kallikrein-15 in blood serum" + "lumbar disc degeneration" "Intellectual disability-developmental delay-contractures syndrome" "isobutyryl-CoA dehydrogenase, mitochondrial" "otic placode" "familial mesial temporal lobe epilepsy with febrile seizures" - "tumor necrosis factor receptor superfamily member 1A measurement" "level of chromodomain Y-like protein 2 in blood serum" + "tumor necrosis factor receptor superfamily member 1A measurement" "duplication of the pituitary gland" "response to tafenoquine"@en "hyperphenylalaninemia due to DNAJC12 deficiency" @@ -26245,8 +26241,8 @@ "Isonicotinamide measurement" "4-hydroxyphenylacetylglutamine measurement" "apoptotic protease-activating factor 1" - "glutaredoxin-like protein C5orf63 measurement" "hemorrhagic cystitis" + "glutaredoxin-like protein C5orf63 measurement" "level of carboxypeptidase B in blood serum" "bronchiolitis" "obsolete_mucolipidosis" @@ -26258,9 +26254,9 @@ "cecal benign neoplasm" "diffuse leptomeningeal glioneuronal tumor" "obsolete_atypical Gaucher disease due to saposin C deficiency" + "nmrA-like family domain-containing protein 1 measurement" "microfibrillar-associated protein 3-like" "level of interferon regulatory factor 5 in blood serum" - "nmrA-like family domain-containing protein 1 measurement" "Col-5" "azinomycin B" "otofaciocervical syndrome" @@ -26297,8 +26293,8 @@ "post-operative fentanyl consumption measurement" "blue diaper syndrome" "interferon gamma" - "Posterior column ataxia - retinitis pigmentosa" "hypomyelinating leukodystrophy 9" + "Posterior column ataxia - retinitis pigmentosa" "Ureaplasma parvum" "thrombus formation measurement" "miniARS-seq" @@ -26355,8 +26351,8 @@ "obsolete_sneezing" "obsolete_distal trisomy 16q" "Facial dysmorphism - immunodeficiency - livedo - short stature" - "Wolman disease" "spontaneous labor and birth" + "Wolman disease" "closed iniencephaly" "pneumococcal bacteremia" "dimethylarginine" @@ -26364,14 +26360,14 @@ "spondyloepimetaphyseal dysplasia-hypotrichosis syndrome" "cell" "Subcutaneous hemorrhage" - "obsolete_Marshall-Smith syndrome" - "hidradenitis suppurativa" "CHO-IR" "neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination" "squamous cell carcinoma of liver and intrahepatic biliary tract" - "linolenoylcarnitine (C18:3) measurement" + "obsolete_Marshall-Smith syndrome" + "hidradenitis suppurativa" "B6.Cg-Tg(SOD1-G93A)1Gur/J" "congenital thrombotic thrombocytopenic purpura" + "linolenoylcarnitine (C18:3) measurement" "apolipoprotein C-I" "cAMP-dependent protein kinase type I-alpha regulatory subunit" "Chiari malformation" @@ -26422,8 +26418,8 @@ "non-syndromic brachydactyly of fingers" "mPAC L20" "plasma plasminogen measurement" - "DNA-binding protein SMUBP-2" "obsolete_response to gefitinib" + "DNA-binding protein SMUBP-2" "fruit" "neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures" "N-acetylglucosamine-1-phosphotransferase subunit gamma" @@ -26440,8 +26436,8 @@ "obsolete_adipose tissue MMHCC" "biliary, renal, neurologic, and skeletal syndrome" "level of laminin subunit alpha-4 in blood serum" - "Genetic gynecological tumor" "Ichthyosis - alopecia - eclabion - ectropion - intellectual disability" + "Genetic gynecological tumor" "level of complement C1q-like protein 2 in blood serum" "vitelliform macular dystrophy 4" "nasal cavity carcinoma" @@ -26486,8 +26482,8 @@ "RKOE6" "X-linked chondrodysplasia punctata" "dipeptidase 2 measurement" - "Progressive myoclonic epilepsy" "obsolete_familial multiple trichoepithelioma" + "Progressive myoclonic epilepsy" "platelet abnormalities with eosinophilia and immune-mediated inflammatory disease" "spastic paraparesis-deafness syndrome" "Myokymia" @@ -26505,16 +26501,16 @@ "CD103-positive, langerin-positive lymph node dendritic cell" "pharyngeal arch artery 2" "necrotizing ulcerative gingivitis" - "pyruvate decarboxylase deficiency" "COMM domain-containing protein 7 measurement" + "pyruvate decarboxylase deficiency" "laser capture microdissection" "long QT syndrome 10" "level of phosphatidylinositol 3-kinase regulatory subunit alpha in blood serum" "Takotsubo cardiomyopathy" + "Somnambulism" "level of aminopeptidase B in blood serum" "male" "protein S100-A2" - "Somnambulism" "ATP metabolic process" "ILSXISS24/TejJ" "Hermansky-Pudlak syndrome 2" @@ -26560,13 +26556,13 @@ "Staphylococcus aureus subsp. aureus Mu50" "obsolete_Irish" "SH2 domain-containing adapter protein D" - "obsolete_camptodactyly syndrome, Guadalajara type 2" "potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1" + "obsolete_camptodactyly syndrome, Guadalajara type 2" "Salivary Gland Basal Cell Adenocarcinoma" "CD3-positive T-lymphocyte count" "Arthrogryposis - renal dysfunction - cholestasis" - "obsolete_distal arthrogryposis type 10" "Xanthomonas oryzae pv. oryzicola BLS256" + "obsolete_distal arthrogryposis type 10" "Youcai mosaic virus" "progonadoliberin-2" "alpha-internexin measurement" @@ -26582,10 +26578,10 @@ "endocrine system disorder, non-human animal" "level of bone marrow proteoglycan in blood serum" "immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome" + "phosphatidylcholine acyl-alkyl C42:0 measurement" "bone marrow aspiration" "clomipramine hydrochloride" "eye inflammation" - "phosphatidylcholine acyl-alkyl C42:0 measurement" "level of complement C1q-like protein 4 in blood serum" "cerebral blood flow measurement" "distal trisomy 18q" @@ -26603,8 +26599,8 @@ "obsolete_response to diclofenac" "homocystinuria" "metastatic prostate cancer" - "aprataxin" "Neurospora tetrasperma" + "aprataxin" "level of protein FAM177A1 in blood serum" "dihydropyrimidinase-related protein 3 measurement" "stromal corneal dystrophy" @@ -26679,8 +26675,8 @@ "CINCA syndrome" "zyxin" "sarcosine dehydrogenase activity" - "NCI-N87" "geranylgeranyl pyrophosphate synthase" + "NCI-N87" "response to candesartan" "Pleural Mesothelioma" "level of egl nine homolog 1 in blood serum" @@ -26718,8 +26714,8 @@ "cerebral meningioma" "ophthalmoplegia" "BICR 22" - "mitral valve annular diameter"@en "phospholipids in small HDL measurement " + "mitral valve annular diameter"@en "DDB1- and CUL4-associated factor 12" "E3 ubiquitin-protein ligase NRDP1" "mediastinum liposarcoma" @@ -26870,14 +26866,14 @@ "non polyA RNA" "level of heat shock protein beta-6 in blood serum" "myoclonic epilepsy" - "cystic renal cell carcinoma" "coralliform cataract" "carbonic anhydrase 2" + "cystic renal cell carcinoma" + "peritonitis" "islet cell adenomatosis" "rhabdomyosarcoma with mixed embryonal and alveolar features" - "peritonitis" - "syntaxin-17" "putative protein N-methyltransferase FAM86B1" + "syntaxin-17" "level of coiled-coil domain-containing protein 149 in blood serum" "tetraspanin-1" "level of trafficking protein particle complex subunit 5 in blood serum" @@ -26934,10 +26930,10 @@ "Inability to walk by childhood/adolescence" "level of 5'(3')-deoxyribonucleotidase, cytosolic type in blood" "X-23593 measurement" - "arrhinia-choanal atresia-microphthalmia syndrome" "GM17199" - "atrial natriuretic peptide receptor 1" + "arrhinia-choanal atresia-microphthalmia syndrome" "obsolete_Pelizaeus-Merzbacher disease, connatal form" + "atrial natriuretic peptide receptor 1" "obsolete_congenital muscular dystrophy due to LMNA mutation" "GM17294" "viral respiratory tract infection" @@ -26948,10 +26944,10 @@ "obsolete_Wiedemann-Rautenstrauch syndrome" "Cloverleaf skull - asphyxiating thoracic dysplasia" "thyroid cancer" + "Cerebral diseases of vascular origin with epilepsy" "ubiquitin carboxyl-terminal hydrolase 12" "tumor protein 63 measurement" "level of nitric oxide synthase, endothelial in blood" - "Cerebral diseases of vascular origin with epilepsy" "zinc-alpha-2-glycoprotein" "contractures - webbed neck - micrognathia - hypoplastic nipples syndrome" "prothoracic leg disc" @@ -27022,9 +27018,9 @@ "obsolete_mucopolysaccharidosis" "obsolete_20q11.2 microduplication syndrome" "benign neoplasm of exocrine pancreas" + "Tritanopia" "gamma-carboxy-L-glutamic acid zwitterion(2-)" "obsolete_osteogenesis imperfecta" - "Tritanopia" "Terminal limb defects" "GM17845" "contractures-ectodermal dysplasia-cleft lip/palate syndrome" @@ -27052,9 +27048,9 @@ "Localized epidermolysis bullosa simplex" "obsolete_Proximal spinal muscular atrophy type 1" "3-methylglutaconic aciduria type 3" - "Intellectual disability - alacrima - achalasia" "cytoplasmic dynein 1 light intermediate chain 2" "cervical squamous intraepithelial neoplasia" + "Intellectual disability - alacrima - achalasia" "level of glucosamine-6-phosphate isomerase 1 in blood serum" "Ulbright-Hodes syndrome" "obsolete_embryonic foregut sensory structure" @@ -27088,8 +27084,8 @@ "twinfilin-1 measurement" "interleukin-1 receptor-associated kinase 4" "autoinflammatory disease, X-linked" - "pathological gambling" "Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp" + "pathological gambling" "parasitic infection" "bacteria seropositivity" "ER membrane protein complex subunit 5" @@ -27194,8 +27190,8 @@ "level of complement C1q-like protein 3 in blood serum" "N-(2-furoyl)glycine measurement" "MCF-7/MN1"@en - "obsolete_porphyria" "dietary potassium intake measurement" + "obsolete_porphyria" "complement C2 measurement" "Postaxial foot polydactyly" "suppressor macrophage" @@ -27257,10 +27253,10 @@ "level of deoxycytidylate deaminase in blood" "ILSXISS25/TejJ" "level of glycine--tRNA ligase in blood serum" + "obsolete_radio-renal syndrome" "autosomal dominant slowed nerve conduction velocity" "Braxton-Hicks contractions" "Mitral regurgitation" - "obsolete_radio-renal syndrome" "Staphylococcus aureus subsp. aureus N315" "Saccharomyces kudriavzevii" "level of 11-hydroxy-arachidonic acid in blood plasma" @@ -27299,15 +27295,15 @@ "level of protein unc-45 homolog A in blood serum" "Ralstonia solanacearum" "level of 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2 in blood" - "Malignancy in Giant Cell Tumor of Bone" "Increased intracranial pressure" + "Malignancy in Giant Cell Tumor of Bone" "X-11818 measurement" "corneal-cerebellar syndrome" "qualitative platelet defect" "transcobalamin II deficiency" "Endolymphatic Sac Tumor" - "secretoglobin family 1D member 2 measurement" "obsolete_gynoecium" + "secretoglobin family 1D member 2 measurement" "ALys amyloidosis" "posterior corneal dystrophy" "resting heart rate" @@ -27340,10 +27336,10 @@ "plant callus" "dihydropyrimidinase-related protein 5 measurement" "diabetic encephalopathy" - "LysoPC 16:0 measurement" "level of SH3 domain-binding glutamic acid-rich-like protein 2 in blood serum" "autosomal recessive dyskeratosis congenita 4" "sensory perception of sound" + "LysoPC 16:0 measurement" "Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly" "Nthy-ori 3-1" "Missing ribs" @@ -27376,19 +27372,19 @@ "Palmoplantar hyperhidrosis" "DnaJ homolog subfamily C member 11" "Townsend deprivation index" - "obsolete_myotonia permanens" "time unit" + "obsolete_myotonia permanens" "cribriform carcinoma of breast" "interleukin-13 measurement" "3-hydroxydecanoylcarnitine measurement" - "leptomeninx" "transcription factor NF-E2 45 kDa subunit" "Deinococcus" + "leptomeninx" "fallopian tube transitional cell carcinoma" "obsolete_tonsil" + "idiopathic type 1 diabetes" "hyperinsulinism due to INSR deficiency" "postmenopausal osteoporosis" - "idiopathic type 1 diabetes" "level of endosialin in blood" "obsolete_periodic paralysis with later-onset distal motor neuropathy" "Legionnaires' disease" @@ -27424,10 +27420,10 @@ "obsolete_prefrontal cortex" "obsolete_maxillary sensory complex primordium" "level of isthmin-1 in blood serum" - "intracellular non-membrane-bounded organelle" + "intracellular membraneless organelle" "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15" - "musculoskeletal embryonic nuclear protein 1" "asymptomatic neurocognitive impairment" + "musculoskeletal embryonic nuclear protein 1" "obsolete_Joubert syndrome and related disorders" "vacuolar protein-sorting-associated protein 25" "aurora kinase A measurement" @@ -27445,8 +27441,8 @@ "neurodevelopmental disorder with ataxia, hypotonia, and microcephaly" "Conspicuously happy disposition" "keratin, type II cytoskeletal 5" - "disaccharide metabolic process" "Prolonged QTc interval" + "disaccharide metabolic process" "external control ratio" "vesicle-associated membrane protein 7" "obsolete secondary dysgenetic glaucoma" @@ -27473,9 +27469,9 @@ "congenital diarrhea 5 with tufting enteropathy" "HG03064" "N-nitrosodiethylamine" + "U6 snRNA phosphodiesterase measurement" "age at breast cancer diagnosis" "succinyl-CoA:3-ketoacid-coenzyme A transferase 1, mitochondrial" - "U6 snRNA phosphodiesterase measurement" "picolinoylglycine measurement" "level of multimerin-2 in blood serum" "level of vacuolar protein-sorting-associated protein 25 in blood serum" @@ -27497,11 +27493,11 @@ "lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial" "glycoprotein endo-alpha-1,2-mannosidase measurement" "cataract 34 multiple types" - "Leprechaunism" "Periorbital hyperpigmentation" "obsolete_Atkin-Flaitz syndrome" "maternal riboflavin deficiency" "syndromic X-linked intellectual disability 34" + "Leprechaunism" "mucinous carcinoma" "Standard Flowgram Format (SFF)" "obsolete_mammary gland" @@ -27524,9 +27520,9 @@ "Lymphangiosarcoma" "obsolete_Charcot-Marie-Tooth disease" "E3 ubiquitin-protein ligase HECW1 measurement" - "obsolete_atresia of small intestine" "level of target of Myb1 membrane trafficking protein in blood serum" "glucose-6-phosphatase activity" + "obsolete_atresia of small intestine" "actin filament-associated protein 1-like 1" "indoleamine 2,3-dioxygenase 1" "inherited mitral valve disease" @@ -27563,9 +27559,9 @@ "ribonucleoside-diphosphate reductase subunit M2 B measurement" "Salmonella enterica subsp. enterica serovar Agona" "distal symphalangism" - "Pleural Sarcomatoid Mesothelioma" "heat shock 70 kDa protein 1A measurement" "semaphorin-6A measurement" + "Pleural Sarcomatoid Mesothelioma" "nystagmus, congenital, autosomal recessive" "Stormorken-Sjaastad-Langslet syndrome" "obsolete_symbrachydactyly of hand and foot, unilateral" @@ -27576,8 +27572,8 @@ "level of bridging integrator 2 in blood" "AB SOLiD 5500xl" "cystatin-8" - "isovalerylcarnitine (C5) measurement" "peptidyl-prolyl cis-trans isomerase-like 3" + "isovalerylcarnitine (C5) measurement" "level of pituitary adenylate cyclase-activating polypeptide type I receptor in blood serum" "level of UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit in blood serum" "Neisseria lactamica" @@ -27672,11 +27668,11 @@ "cholesteatoma" "joint laxity, short stature, and myopia" "autoinflammatory disease, systemic, with vasculitis" - "obsolete_Wildervanck syndrome" "antimetabolite" "level of kallikrein-9 in blood serum" "Mycobacterium bovis BCG" "level of ELKS/Rab6-interacting/CAST family member 1 in blood serum" + "obsolete_Wildervanck syndrome" "obsolete_autosomal dominant complex spastic paraplegia" "tumor susceptibility gene 101 protein measurement" "choroidal neovascularization" @@ -27710,8 +27706,8 @@ "rhombomere 6 floor plate" "genito-palato-cardiac syndrome" "obsolete_oculocutaneous albinism" - "normal mucosa of esophagus-specific gene 1 protein measurement" "Mayer-Rokitansky-Küster-Hauser syndrome type 2" + "normal mucosa of esophagus-specific gene 1 protein measurement" "Penaeus monodon" "anserine measurement" "obsolete_Goldenhar syndrome" @@ -27786,11 +27782,11 @@ "CD14-low, CD16-positive monocyte" "very-long-chain fatty acyl-CoA dehydrogenase activity" "obsolete_glycogen storage disease due to aldolase A deficiency" + "Autosomal dominant focal dystonia, DYT25" "chromosome 12p deletion" "15-methylpalmitate isobar with 2-methylpalmitate measurement" "uveal melanoma disease severity"@en "Nephropathy-deafness-hyperparathyroidism syndrome" - "Autosomal dominant focal dystonia, DYT25" "Simple Endometrial Hyperplasia" "Dengue virus 4" "obsolete_Gordon syndrome" @@ -27854,9 +27850,9 @@ "C3a anaphylatoxin measurement" "transferrin saturation measurement" "human papillomavirus-related squamous cell carcinoma" + "1-arachidonoyl-GPC (20:4n6) measurement" "dyspepsia" "amphotericin B" - "1-arachidonoyl-GPC (20:4n6) measurement" "level of piRNA biogenesis protein EXD1 in blood serum" "lysophosphatidylcholine 22:1 measurement" "Robertsonian translocation" @@ -27870,8 +27866,8 @@ "distal trisomy 9q" "Tilarginine" "obsolete_Tietz syndrome" - "extrahepatic bile duct leiomyosarcoma" "gamma-aminobutyric acid receptor subunit alpha-4" + "extrahepatic bile duct leiomyosarcoma" "level of L-xylulose reductase in blood serum" "acquired Creutzfeldt-Jakob disease" "Marinesco-Sjogren syndrome" @@ -27896,8 +27892,8 @@ "p phenotype"@en "inflammatory macrophage" "level of interferon regulatory factor 8 in blood serum" - "microfibrillar-associated protein 5" "congenital absence of both lower leg and foot, unilateral" + "microfibrillar-associated protein 5" "C36:5 phosphatidylethanolamine plasmalogen measurement" "IMS-MDA" "serine/threonine-protein kinase PAK 7 measurement" @@ -28005,8 +28001,8 @@ "Wyeomyia smithii" "level of N-acetylglutamate synthase, mitochondrial in blood serum" "eye measurement" - "level of double-stranded RNA-binding protein Staufen homolog 2 in blood serum" "obsolete_zygodactyly type 3" + "level of double-stranded RNA-binding protein Staufen homolog 2 in blood serum" "Dandy-Walker malformation-postaxial polydactyly syndrome" "level of trimeric intracellular cation channel type B in blood serum" "right ventricular stroke volume measurement"@en @@ -28045,26 +28041,26 @@ "PR segment" "lactase-like protein" "partial deletion of the long arm of chromosome 11" + "obsolete_hemolytic anemia due to pyrimidine 5' nucleotidase deficiency" "X-12465 measurement" "HEK-293H" - "obsolete_hemolytic anemia due to pyrimidine 5' nucleotidase deficiency" + "interleukin-17C measurement" "X-linked intellectual disability-cerebellar hypoplasia syndrome" "electric current unit" - "interleukin-17C measurement" + "intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies" + "tobacco smoke exposure measurement" "apocrine adenocarcinoma" "GM17111" "endoplasmic reticulum membrane sensor NFE2L1" "obsolete_root hair" - "intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies" "membrane protein FAM174A" - "embryonic day 18.5" "juvenile vascular leaf" + "embryonic day 18.5" + "level of Cer(m18:1(4E)/24:1(15Z)) in blood serum" "proteasome subunit beta type-1" "lysosomal transport" "primary prostate urothelial carcinoma" - "tobacco smoke exposure measurement" "obsolete_trigeminal nerve" - "level of Cer(m18:1(4E)/24:1(15Z)) in blood serum" "zinc finger protein 41" "ubiquinone measurement" "myosin-binding protein C, slow-type" @@ -28092,8 +28088,8 @@ "level of phosphatidate phosphatase LPIN1 in blood serum" "level of eukaryotic translation initiation factor 4E in blood serum" "orofacial cleft 1" - "malonyl-CoA decarboxylase, mitochondrial measurement" "dihomo-gamma-linoleic acid measurement" + "malonyl-CoA decarboxylase, mitochondrial measurement" "hypolipoproteinemia" "Aggregatibacter actinomycetemcomitans" "sulfite oxidase activity" @@ -28122,9 +28118,9 @@ "neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies" "Acute tubulointerstitial nephritis" "obsolete_hereditary North American Indian childhood cirrhosis" - "Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency" "level of TRAF family member-associated NF-kappa-B activator in blood serum" "erythritol" + "Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency" "extra-adrenal sympathetic paraganglioma" "BICR 78" "Saccharomyces mikatae" @@ -28134,8 +28130,8 @@ "GM13977" "cholesterol:total lipids ratio"@en "krueppel-like factor 9" - "obsolete_DPM3-CDG" "GM17814" + "obsolete_DPM3-CDG" "tetrasaccharide (glycogen, stachyose) measurement" "arylamine N-acetyltransferase 1 measurement" "focal segmental glomerulosclerosis 9" @@ -28187,9 +28183,9 @@ "oculo-skeletal-renal syndrome" "non-syndromic X-linked intellectual disability" "pharyngeal system development" + "obsolete_growth delay due to insulin-like growth factor I resistance" "perineum disease" "GM17230" - "obsolete_growth delay due to insulin-like growth factor I resistance" "Partial deletion of the long arm of chromosome 22" "3-hydroxylaurate measurement" "HG03066" @@ -28303,16 +28299,16 @@ "economic and social preference" "methylmalonyl-CoA mutase, mitochondrial" "potential tRNA (adenine-N(1)-)-methyltransferase catalytic subunit TRMT61B" - "Disorder of tryptophan metabolism" "skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome" "vacuolar protein sorting-associated protein 26A" + "Disorder of tryptophan metabolism" "cotinine measurement" "splicing factor YJU2" "level of oncoprotein-induced transcript 3 protein in blood serum" "Neisseria meningitidis" "neurodevelopmental disorder with central hypotonia and dysmorphic facies" - "alverine measurement" "thymosin beta-10" + "alverine measurement" "syringomyelia" "Mazabraud syndrome" "integrin alpha-V" @@ -28350,8 +28346,8 @@ "Immunodeficiency by defective expression of HLA class 2" "orofaciodigital syndrome type 14" "X-23639 measurement" - "parathyroid hormone/parathyroid hormone-related peptide receptor" "total joint arthroplasty" + "parathyroid hormone/parathyroid hormone-related peptide receptor" "chromosome 8, trisomy" "testican-3" "gonococcal infection of joint" @@ -28384,9 +28380,9 @@ "level of phospholipase B-like 1 in blood serum" "Limb hypertonia" "pineal region germinoma" + "obsolete_larynx atresia" "brachyolmia" "level of phosphomannomutase 2 in blood serum" - "obsolete_larynx atresia" "serum VEGFR2 concentration measurement" "L-Proline to 3-Indolepropionic acid ratio" "congenital pseudoarthrosis of the tibia" @@ -28425,8 +28421,8 @@ "ribose-5-phosphate isomerase measurement" "cobalamin metabolic process" "mesectoderm" - "Fanconi anemia" "Chlamydophila infectious disease" + "Fanconi anemia" "obsolete_hemoglobinopathy" "inborn disorder of cobalamin metabolism and transport" "level of complexin-2 in blood serum" @@ -28462,12 +28458,12 @@ "level of neudesin in blood serum" "intestinal epithelium" "photokeratitis" - "ocular hypertension" "interleukin-9 measurement" "WM-35"@en "X-12407 measurement" "melorheostosis with osteopoikilosis" "neurodevelopmental, jaw, eye, and digital syndrome" + "ocular hypertension" "obsolete uniparental disomy of chromosome X" "fundus of stomach" "uveal coloboma-cleft lip and palate-intellectual disability" @@ -28596,8 +28592,8 @@ "C5a anaphylatoxin measurement" "obsolete_holoprosencephaly" "tryptophan measurement" - "embryonic ventral midline neuroblast" "level of extracellular serine/threonine protein kinase Fam20C in blood serum" + "embryonic ventral midline neuroblast" "protein secretion" "occludin" "1-dihomo-linolenoyl-GPC (20:3n3 or 6) measurement" @@ -28667,8 +28663,8 @@ "metastatic carcinoma in the adrenal medulla" "lymphopenia" "ER membrane protein complex subunit 1" - "obsolete_Alexander disease" "CD14-positive, CD16-positive monocyte" + "obsolete_Alexander disease" "level of phosphoethanolamine/phosphocholine phosphatase in blood" "level of zinc finger protein 774 in blood serum" "uterine ligament cancer" @@ -28704,8 +28700,8 @@ "level of multifunctional methyltransferase subunit TRM112-like protein in blood serum" "small intestine neuroendocrine tumor" "N-acetyl-L-serine" - "female genital tract fistula" "level of sprouty-related, EVH1 domain-containing protein 1 in blood serum" + "female genital tract fistula" "developmental and epileptic encephalopathy 103" "dihydroxy docosatrienoic acid measurement" "obsolete_Meckel syndrome" @@ -28756,13 +28752,13 @@ "3-methyl-2-oxovalerate" "Solanum lycopersicum" "polymorphic light eruption" + "obsolete_Oculopharyngodistal myopathy" "cytokine" "hereditary pulmonary alveolar proteinosis" - "obsolete_Oculopharyngodistal myopathy" "protein FAM221A" "rheumatic disease" - "macroglossia" "lipoprotein measurement" + "macroglossia" "apocrine sweat gland cancer" "BTB/POZ domain-containing protein KCTD5 measurement" "obsolete_root nodule" @@ -28770,8 +28766,8 @@ "Charcot-Marie-Tooth disease, demyelinating, IIA 1I" "presumptive rhombomere 4" "right ventricular diastolic volume to left ventricular diastolic volume ratio"@en - "vitamin supplement exposure measurement" "neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies" + "vitamin supplement exposure measurement" "zinc finger protein 410" "synthetic data"@en "C38:4 phosphatidylethanolamine measurement" @@ -28786,8 +28782,8 @@ "neonatal jaundice" "protein phosphatase 1G" "obsolete_genetic intestinal polyposis" - "X-linked hereditary sensory and autonomic neuropathy with deafness" "Osteopathia striata - cranial sclerosis" + "X-linked hereditary sensory and autonomic neuropathy with deafness" "apolipoprotein B measurement" "constipation disorder" "vaginal disorder" @@ -28822,11 +28818,11 @@ "level of protein FAM151A in blood serum" "procathepsin L" "acute myeloid leukemia, monoallelic CEBPA gene mutation" - "obsolete_digestive duplication" "Dynein arm defect of respiratory motile cilia" "cerebral malformation" "neisseria meningitidis seropositivity" "Blepharoptosis - myopia - ectopia lentis" + "obsolete_digestive duplication" "X-21742 measurement" "Tae-Eum" "obsolete_alcohol consumption" @@ -28841,8 +28837,8 @@ "level of eukaryotic translation initiation factor 4E type 2 in blood serum" "cortex volume change measurement"@en "sick sinus syndrome" - "Actinobacillus pleuropneumoniae" "hereditary attention deficit-hyperactivity disorder" + "Actinobacillus pleuropneumoniae" "PC-14" "breast intraductal proliferative lesion" "protein LSM12" @@ -28865,9 +28861,9 @@ "limited cutaneous systemic sclerosis" "neurodevelopmental disorder with cerebellar hypoplasia and spasticity" "obsolete Carey-Fineman-Ziter syndrome" + "allergen" "Bemisia tabaci" "Patent foramen ovale" - "allergen" "obsolete goniodysgenesis" "disintegrin and metalloproteinase domain-containing protein 28" "level of alpha-1,3/1,6-mannosyltransferase ALG2 in blood serum" @@ -28895,15 +28891,15 @@ "level of vacuolar protein sorting-associated protein 26B in blood serum" "acid sphingomyelinase-like phosphodiesterase 3b" "hepatic fibrosis-renal cysts-intellectual disability syndrome" - "polyarteritis nodosa, childhoood-onset" "collection of basal ganglia" + "polyarteritis nodosa, childhoood-onset" "obsolete_intellectual disability-obesity-prognathism-eye and skin anomalies syndrome" "T-cell differentiation antigen CD6 (human)" "level of protein disulfide isomerase CRELD1 in blood" "obsolete_humeral agenesis/hypoplasia, unilateral" - "obsolete_Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion" "parietal cell" "hilar cholangiocarcinoma" + "obsolete_Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion" "partial deletion of chromosome 19" "EB3" "Actinobacillus pleuropneumoniae serovar 7" @@ -28925,8 +28921,8 @@ "obsolete inherited soft tissue tumor" "level of calsyntenin-1 in blood serum" "extragonadal germ cell tumor" - "leucine-rich repeat-containing protein 15 measurement" "ectodermal placode development" + "leucine-rich repeat-containing protein 15 measurement" "peritoneal solitary fibrous tumor" "level of cAMP-dependent protein kinase type I-alpha regulatory subunit in blood serum" "alpha-2,8-sialyltransferase 8B" @@ -29046,18 +29042,18 @@ "obsolete_dysosteosclerosis" "Abnormality of the vertebral column" "spondyloarthropathy" + "low-density lipoprotein receptor-related protein 1B measurement" + "4C-seq"@en "decorin measurement" "integrin beta-1-binding protein 1" - "low-density lipoprotein receptor-related protein 1B measurement" "early myoclonic encephalopathy" "ACPA-negative rheumatoid arthritis" - "4C-seq"@en "11p15.4 microduplication syndrome" "lung carcinoid tumor" "Eucalyptus globulus" "level of interleukin-7 in blood serum" - "Telecanthus - hypertelorism - strabismus - pes cavus" "obsolete_response to temozolomide" + "Telecanthus - hypertelorism - strabismus - pes cavus" "level of cytokine-like protein 1 in blood" "maturity-onset diabetes of the young type 3" "Hematochezia" @@ -29104,21 +29100,21 @@ "Venezuelan equine encephalitis" "Birt-Hogg-Dubé syndrome" "level of IST1 homolog in blood serum" + "obsolete_autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures" "childhood brain germinoma" "obsolete_loose anagen syndrome" "Elevated circulating 7-dehydrocholesterol concentration" "Bombyx mori" - "obsolete_autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures" + "obsolete_duodenal atresia" "protein 4.1" "level of mitochondrial-processing peptidase subunit alpha in blood serum" - "obsolete_duodenal atresia" "very long-chain saturated fatty acid measurement" "cortisone measurement" "posterior lateral line nerve" "Macrotia" "GRACILE syndrome" - "N-acetylcitrulline measurement" "permanent congenital hypothyroidism" + "N-acetylcitrulline measurement" "partial duplication of chromosome 12" "periplakin" "SW954" @@ -29262,8 +29258,8 @@ "obsolete retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene" "lysophosphatidylethanolamine 18:2" "X-11905 measurement" - "brachyolmia type 1, toledo type" "blood 2,4-di-tert-butylphenol measurement" + "brachyolmia type 1, toledo type" "biotic plant treatment" "beta-amyloid 1-42 measurement" "1-aminocyclopropanecarboxylic acid" @@ -29289,11 +29285,11 @@ "level of prokineticin-2 in blood serum" "cadherin-1 measurement" "Tossa de Mar ecotype" - "Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability" "coagulation factor IX measurement" + "Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability" "ocular motility disease" - "1-dihomo-linoleoyl-GPC (20:2) measurement" "proteasome subunit beta type-2" + "1-dihomo-linoleoyl-GPC (20:2) measurement" "protein arginine N-methyltransferase 3" "obsolete_glucocorticoid resistance" "olfactory marker protein" @@ -29322,8 +29318,8 @@ "benign neoplasm of large intestine" "obsolete_Otopalatodigital syndrome" "serpin B4" - "frailty measurement" "digestive system melanoma" + "frailty measurement" "GM17846" "carcinoembryonic antigen-related cell adhesion molecule 8" "nuclear factor erythroid 2-related factor 1 measurement" @@ -29427,8 +29423,8 @@ "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14" "obsolete_neurofibromatosis type 1" "Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia" - "nausea and vomiting of pregnancy severity measurement" "Piriformospora indica" + "nausea and vomiting of pregnancy severity measurement" "obsolete_isolated focal cortical dysplasia type IIb" "embryonic antennal sense organ" "calcium-dependent secretion activator 1" @@ -29546,14 +29542,14 @@ "epsin-1" "obsolete_osteopetrosis" "anion exchange transporter" + "macromolecule modification" "transient arthritis" "oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial" "inflammatory spondylopathy" - "macromolecule modification" + "level of ret finger protein-like 3 in blood serum" "cleft palate-lateral synechia syndrome" "hereditary spastic paraplegia 8" "primary membranoproliferative glomerulonephritis" - "level of ret finger protein-like 3 in blood serum" "dietary carotene intake measurement" "AG11696" "vein disorder" @@ -29618,8 +29614,8 @@ "obsolete_somite 3" "EFM19" "inherited" - "level of group IID secretory phospholipase A2 in blood serum" "S-warfarin to R-warfarin ratio measurement" + "level of group IID secretory phospholipase A2 in blood serum" "TYK-nu" "ampulla of vater squamous cell carcinoma" "familial isolated congenital asplenia" @@ -29664,8 +29660,8 @@ "hyper-IgE syndrome" "level of death domain-containing protein CRADD in blood serum" "qualitative or quantitative defects of calpain" - "Malformation of the neurenteric canal, spinal cord and column" "early-onset generalized dystonia" + "Malformation of the neurenteric canal, spinal cord and column" "level of discoidin, CUB and LCCL domain-containing protein 1 in blood serum" "Beck-Fahrner syndrome" "clomipramine" @@ -29676,8 +29672,8 @@ "behenoyl dihydrosphingomyelin (d18:0/22:0) measurement" "Primary bone dysplasia" "obsolete_congenital analbuminemia" - "valerate (5:0) measurement" "osteoarthritis, knee" + "valerate (5:0) measurement" "G1/S-specific cyclin-D2" "ML-DmD20-c2" "MHC class II histocompatibility antigen gamma chain" @@ -29693,15 +29689,15 @@ "pioglitazone" "obsolete_overgrowth syndrome" "Hirschsprung disease - deafness - polydactyly" + "X-12524 measurement" + "soluble triggering receptor expressed on myeloid cells 2 measurement" "level of delta-like protein 3 in blood serum" "LIM domain-binding protein 2" "chronic disease" "Spermophilus lateralis" "dual specificity protein phosphatase 21" "ligament cell" - "X-12524 measurement" "level of Phosphatidylcholine (16:0_18:3) in blood serum" - "soluble triggering receptor expressed on myeloid cells 2 measurement" "congenital disorder of glycosylation, type IIq" "level of synaptotagmin-like protein 1 in blood serum" "band form neutrophil" @@ -29725,20 +29721,20 @@ "WRL-68" "myopericytoma" "neurexophilin-2" - "ureterocele" "autosomal recessive spastic paraplegia type 71" + "ureterocele" "idiopathic aplastic anemia" "cortical thickness change measurement"@en "1-hexadecanoyl-2-[(7Z,10Z,13Z,16Z)-docosatetraenoyl]-sn-glycero-3-phosphocholine" "Developmental stagnation at onset of seizures" "obsolete eculizumab, poor response to" - "level of protein FAM241B in blood serum" "GMP reductase 2" + "level of protein FAM241B in blood serum" "propionic acid" "drug role" "mannosyl-oligosaccharide 1,2-alpha-mannosidase IA measurement" - "PC-6" "Desbuquois syndrome" + "PC-6" "obsolete_familial hyperaldosteronism type II" "obsolete_left ventricular noncompaction" "Poorly Differentiated Thyroid Gland Carcinoma" @@ -29762,8 +29758,8 @@ "neurodevelopmental disorder with structural brain anomalies and dysmorphic facies" "hair anomaly" "integrin beta-1-binding protein 2" - "functioning pituitary gland adenoma" "brain glioblastoma" + "functioning pituitary gland adenoma" "dermatitis" "obsolete_germ ring" "heparan sulfate glucosamine 3-O-sulfotransferase 4 measurement" @@ -29780,8 +29776,8 @@ "level of ankyrin repeat and MYND domain-containing protein 2 in blood" "level of myelin-oligodendrocyte glycoprotein in blood" "alpha-2-HS-glycoprotein measurement" - "teneurin-3" "level of ryanodine receptor 1 in blood" + "teneurin-3" "diaphragmatic hernia 3" "primary polyarteritis nodosa" "family history of breast cancer" @@ -29793,8 +29789,8 @@ "reticulocyte count" "obsolete_monosomy 21" "partial segmental duplication" - "Polysomy of X chromosome" "Rosa lucieae" + "Polysomy of X chromosome" "tripartite motif-containing protein 26" "curettage"@en "androsterone sulfate measurement" @@ -29842,8 +29838,8 @@ "Adult onset" "upper face morphology measurement"@en "macrophage cell line" - "congenital pseudoarthrosis of the fibula" "killer cell lectin-like receptor subfamily B member 1" + "congenital pseudoarthrosis of the fibula" "Tumor Lysis Syndrome" "pleomorphic liposarcoma" "abiotic plant treatment" @@ -29941,17 +29937,17 @@ "Leuconostoc citreum" "CD8-positive, alpha-beta cytotoxic T cell" "ubiquitin-conjugating enzyme E2 variant 1" + "obsolete_X-linked intellectual disability, Stoll type" "5-dodecenoate" "follistatin-related protein 4" "leiomyomatosis" - "obsolete_X-linked intellectual disability, Stoll type" "segregating inbred strain" "obsolete_schneckenbecken dysplasia" "potassium voltage-gated channel subfamily A member 10 measurement" "level of sorting nexin-11 in blood serum" "blood arsenic measurement"@en - "level of glutamine amidotransferase-like class 1 domain-containing protein 3, mitochondrial in blood" "seminal fluid" + "level of glutamine amidotransferase-like class 1 domain-containing protein 3, mitochondrial in blood" "Self-injurious behavior" "Episodic abdominal pain" "obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy" @@ -30023,8 +30019,8 @@ "level of proepiregulin in blood" "serine/threonine-protein kinase PAK 4" "PDZ and LIM domain protein 3" - "exploratory eye movement measurement" "isobutyrylglycine measurement" + "exploratory eye movement measurement" "blood vessel injury" "ETS domain-containing protein Elk-1 measurement" "N-acetylglycine measurement" @@ -30045,8 +30041,8 @@ "proteasome subunit beta type-4" "partial duplication of chromosome 1" "femoral neuropathy" - "hepcidin measurement" "level of centrosomal protein of 76 kDa in blood serum" + "hepcidin measurement" "leukoencephalopathy with mild cerebellar ataxia and white matter edema" "endocrine-cerebro-osteodysplasia syndrome" "junctophilin-1 measurement" @@ -30088,8 +30084,8 @@ "level of lysophosphatidic acid phosphatase type 6 in blood" "1-oleoylglycerol" "Gaucher disease type 1" - "GM17776" "Benign essential blepharospasm" + "GM17776" "Shaken Baby Syndrome" "Crohn ileitis" "kuru, susceptibility to" @@ -30113,9 +30109,9 @@ "obsolete posterior fossa malformation" "Child Behaviour Checklist assessment" "obsolete_Prader-Willi syndrome due to imprinting mutation" - "leukosialin" - "cholesterol in large HDL measurement " "N-acetylglucosaminylasparagine measurement" + "cholesterol in large HDL measurement " + "leukosialin" "level of YTH domain-containing protein 1 in blood serum" "mediastinitis" "obsolete_Duchenne and Becker muscular dystrophy" @@ -30178,13 +30174,13 @@ "vitamin k-dependent protein S measurement" "deafness-epiphyseal dysplasia-short stature syndrome" "hippocampus" - "obsolete_acrofacial dysostosis, Weyers type" "1-stearoyl-2-linoleoyl-GPE (18:0/18:2) measurement" "disturbed flow regions" "level of signal peptide, CUB and EGF-like domain-containing protein 3 in blood serum" "level of gastrokine-1 in blood" "ARS-Seq" "horse disease" + "obsolete_acrofacial dysostosis, Weyers type" "15-oxo-ETE" "epilepsy of infancy with migrating focal seizures" "level of negative elongation factor E in blood serum" @@ -30200,8 +30196,8 @@ "Metanephric Adenoma" "presumptive rhombomere 6" "facial paralysis" - "C38:6 phosphatidylcholine plasmalogen measurement" "6-deoxotyphasterol" + "C38:6 phosphatidylcholine plasmalogen measurement" "X-linked intellectual disability-ataxia-apraxia syndrome" "serine/threonine-protein kinase receptor R3 measurement" "hepatitis B virus, susceptibility to" @@ -30236,8 +30232,8 @@ "synaptotagmin-like protein 1" "HepaRG" "homeobox protein OTX1" - "enhancer of mRNA-decapping protein 4" "spine bone mineral density change measurement" + "enhancer of mRNA-decapping protein 4" "thymic macrophage" "acheiria, bilateral" "treprostinil dose measurement"@en @@ -30330,8 +30326,8 @@ "TYK-nu.CP-r" "Finnish type amyloidosis" "prostate cancer cell line" - "Galloway-Mowat syndrome 10" "Endometrial Hyperplasia without Atypia" + "Galloway-Mowat syndrome 10" "GM17262" "demyelinating polyneuropathy" "dense deposit disease" @@ -30363,16 +30359,16 @@ "Abnormality of T cell physiology" "gene expression protocol" "vaginal inflammation" + "C-type lectin domain family 10 member A measurement" "esterase OVCA2" "Corynebacterium glutamicum" - "C-type lectin domain family 10 member A measurement" "small adipocyte" "Abnormal circulating lactate dehydrogenase concentration" "delayed reward discounting measurement" - "obsolete_Coats plus syndrome" "female reproductive endometrioid cancer" "Siddiqi syndrome" "zinc finger protein 415" + "obsolete_Coats plus syndrome" "partial duplication of the short arm of chromosome 16" "CD209 antigen measurement" "commensal Clostridium infectious disease" @@ -30381,13 +30377,13 @@ "obsolete_lissencephaly with cerebellar hypoplasia type C" "level of carnitine O-acetyltransferase in blood serum" "AIDS-related disease" - "Yoon-Bellen neurodevelopmental syndrome" "obsolete_autosomal recessive cerebellar ataxia with late-onset spasticity" + "Yoon-Bellen neurodevelopmental syndrome" "childhood teratoma of the ovary" "level of mitochondrial glycine transporter in blood serum" "radio-renal syndrome" - "decidual natural killer cell, human" "Tracheal Squamous Cell Carcinoma" + "decidual natural killer cell, human" "8305C" "inherited lipoic acid biosynthesis defect" "ventral striatum" @@ -30460,8 +30456,8 @@ "peripheral neuropathy" "diphosphomevalonate decarboxylase" "polydactyly" - "obsolete_lens size anomaly" "KMS-28BM" + "obsolete_lens size anomaly" "level of tryptase delta in blood" "obsolete_basal plate midbrain region" "obsolete_Familial symmetric lipomatosis" @@ -30484,9 +30480,9 @@ "propionylglycine measurement" "obsolete_progressive myoclonic epilepsy type 3" "leukocyte immunoglobulin-like receptor subfamily A member 4 measurement" - "Lipodystrophy - intellectual disability - deafness" "paranasal sinus cancer" "teneurin-4" + "Lipodystrophy - intellectual disability - deafness" "Joubert syndrome 5" "obsolete juvenile absence epilepsy" "breast cancer stage" @@ -30631,10 +30627,10 @@ "obsolete_nemaline myopathy" "Cerebral malformation with epilepsy" "recessive mitochondrial ataxia syndrome" - "obsolete_cone dystrophy with supernormal rod response" "alpha-2-macroglobulin receptor-associated protein measurement" "Vitis vinifera subsp. silvestris" "ovarian granulosa cell tumor" + "obsolete_cone dystrophy with supernormal rod response" "sushi domain-containing protein 4" "dwarfism, intellectual disability, and eye abnormality" "Apert syndrome" @@ -30662,8 +30658,8 @@ "squamous cell lung carcinoma" "pseudohypoaldosteronism, type IB2, autosomal recessive" "ubiquitin-like protein ISG15 measurement" - "blood barium measurement"@en "shoulder and thorax deformity-congenital heart disease syndrome" + "blood barium measurement"@en "Amelia" "pituitary adenocarcinoma" "sympathetic nervous system" @@ -30741,8 +30737,8 @@ "intrathoracic organ injury" "ETS domain-containing protein Elk-3 measurement" "4-acetamidobutanoate measurement" - "carbonic anhydrase-related protein 10 measurement" "malignant melanoma of the mucosa" + "carbonic anhydrase-related protein 10 measurement" "M1 distant metastasis stage" "Buchnera sp." "level of zinc finger protein 41 in blood serum" @@ -30806,8 +30802,8 @@ "chymotrypsin-like elastase family member 2A measurement" "Truncal dystonia" "CROAP5" - "level of alpha-1,4-N-acetylglucosaminyltransferase in blood serum" "obsolete_mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency" + "level of alpha-1,4-N-acetylglucosaminyltransferase in blood serum" "Cataract associated with a metabolic disease" "PAT-Seq" "dynein light chain Tctex-type 1" @@ -30846,10 +30842,10 @@ "venom" "obsolete critical COVID-19 infection" "delirium" - "pregnancy-specific beta-1-glycoprotein 5 measurement" "4E-BP1 measurement" "EDICT syndrome" "obsolete_testis" + "pregnancy-specific beta-1-glycoprotein 5 measurement" "obsolete cerebrofaciothoracic dysplasia" "obsolete_monosomy X" "Candidatus Kuenenia stuttgartiensis" @@ -30904,9 +30900,9 @@ "fumarate measurement"@en "congenital plasminogen activator inhibitor type 1 deficiency" "level of ADP-ribosylation factor 4 in blood serum" - "obsolete_hyperprolinemia type 2" "obsolete paralytic facial malformation" "ectopic hormone secretion syndrome associated with neoplasia" + "obsolete_hyperprolinemia type 2" "platelet alpha granule" "Juvenile onset" "orofaciodigital syndrome I" @@ -31038,9 +31034,9 @@ "rectal carcinoma" "growth protocol" "obsolete_synpolydactyly type 1" - "West Nile encephalitis" "Pierpont syndrome" "serum alanine aminotransferase measurement" + "West Nile encephalitis" "intracranial meningioma" "DOORS syndrome" "trans-acting T-cell-specific transcription factor GATA-3" @@ -31122,8 +31118,8 @@ "collagen alpha-2(VI) chain" "palmdelphin" "Connective tissue disorder due to lysyl hydroxylase-3 deficiency" - "maculopapular cutaneous mastocytosis" "Chitayat syndrome" + "maculopapular cutaneous mastocytosis" "TCam-2" "Transitional Cell Carcinoma" "Huntington disease-like syndrome due to C9ORF72 expansions" @@ -31139,8 +31135,8 @@ "vascular toxicity" "hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency" "obsolete_Nestor-Guillermo progeria syndrome" - "N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase" "obsolete_lipoyl transferase 1 deficiency" + "N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase" "thioredoxin domain-containing protein 9" "lip carcinoma in situ" "corolla development stage" @@ -31196,11 +31192,11 @@ "cortical opacity measurement" "hyperparathyroidism 2 with jaw tumors" "level of heterogeneous nuclear ribonucleoprotein F in blood serum" - "level of integrin alpha-V in blood serum" "Acropora millepora" "level of ubiquitin-like modifier-activating enzyme 6 in blood serum" "Leber congenital amaurosis with early-onset deafness" "obsolete heterocycle biosynthetic process" + "level of integrin alpha-V in blood serum" "level of ataxin-10 in blood serum" "Joubert syndrome 1" "melanoma antigen preferentially expressed in tumors" @@ -31218,17 +31214,16 @@ "D-Sorbitol measurement" "U-698-M" "matrilin-4" - "polyp of ethmoidal sinus" + "obsolete_epidermodysplasia verruciformis" "X-linked central congenital hypothyroidism with late-onset testicular enlargement" "Streptococcus thermophilus CNRZ1066" + "polyp of ethmoidal sinus" "Equus caballus" - "obsolete_epidermodysplasia verruciformis" "orbit of skull" "obsolete_Yoruba" "level of carcinoembryonic antigen-related cell adhesion molecule 3 in blood serum" "iron(III) dicitrate(3-)" "level of complement component C8 beta chain in blood" - "Genetic cardiac tumor" "level of dual specificity protein phosphatase 15 in blood serum" "natural cytotoxicity triggering receptor 3 measurement" "congenital toxoplasmosis" @@ -31236,24 +31231,25 @@ "isolated delta-storage pool disease" "Pulmonary lymphangiectasia" "Lafora disease" + "Genetic cardiac tumor" "intracranial hypertension" "cardiac rhythm disease" "20q11.2 microduplication syndrome" + "pineal complex" "leukocyte immunoglobulin-like receptor subfamily A member 5 measurement" "butyrylglycine measurement" - "pineal complex" "tonsillitis" "trichotillomania" "level of R-spondin-1 in blood serum" "notochordal tumor" "duodenal benign neoplasm" - "obsolete_Zellweger-like syndrome without peroxisomal anomalies" "Swiss2" "autosomal dominant osteopetrosis 1" + "obsolete_Zellweger-like syndrome without peroxisomal anomalies" "level of cAMP-dependent protein kinase type II-beta regulatory subunit in blood serum" "praziquantel" - "Achondrogenesis type 2" "squamous cell bile duct carcinoma" + "Achondrogenesis type 2" "ADAMTS13 activity measurement" "obsolete_sarcoidosis" "DNA sequencer" @@ -31306,12 +31302,12 @@ "dysmorphism-short stature-deafness-disorder of sex development syndrome" "Podoviridae" "obsolete_galactose epimerase deficiency" - "X-linked intellectual disability, Raynaud type" "endometrial neoplasm" "mannosyl-oligosaccharide 1,2-alpha-mannosidase IC" "mitochondrial trifunctional protein deficiency 2" "hexadecanoic acid" "Lactobacillus delbrueckii subsp. bulgaricus" + "X-linked intellectual disability, Raynaud type" "inactive serine protease 35" "age at first facial hair" "dual specificity protein phosphatase 23" @@ -31402,9 +31398,9 @@ "reticulum cell sarcoma" "severe combined immunodeficiency due to CARD11 deficiency" "experiment accession" + "trait in response to apixaban" "prostaglandin F2 receptor negative regulator measurement" "X-23657 measurement" - "trait in response to apixaban" "postmenopausal" "Staphylococcus aureus subsp. aureus COL" "semaphorin-3G" @@ -31422,8 +31418,8 @@ "leucine-rich repeat serine/threonine-protein kinase 2 measurement" "mirror polydactyly-vertebral segmentation-limbs defects syndrome" "stem Cell Growth Factor-beta measurement" - "appetite-regulating hormone measurement" "renovascular hypertension" + "appetite-regulating hormone measurement" "R11" "splenogonadal fusion-limb defects-micrognathia syndrome" "Swiss3" @@ -31476,10 +31472,10 @@ "Charcot-Marie-Tooth disease, demyelinating, IIA 1H" "cerebral white matter volume change measurement"@en "obsolete_Bloom syndrome" + "LCL2" "GM17271" "obsolete_tetralogy of fallot" "mature Vgamma2-positive thymocyte" - "LCL2" "dye swap quality control role"@en "dye swap quality control role" "Marshall-Smith syndrome" @@ -31547,10 +31543,10 @@ "ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome" "level of kidney-associated antigen 1 in blood serum" "level of 14-3-3 protein eta in blood serum" - "intraductal papilloma" "obsolete_ventricular septal defect" - "CD8-alpha-beta-positive, alpha-beta intraepithelial T cell" + "intraductal papilloma" "petal differentiation and expansion stage" + "CD8-alpha-beta-positive, alpha-beta intraepithelial T cell" "level of Phosphatidylcholine (O-16:0_18:1) in blood serum" "obsolete mitochondrial complex II deficiency" "level of harmonin in blood serum" @@ -31609,8 +31605,8 @@ "plasmodium parasite stage" "rheumatoid factor measurement" "prosaposin receptor GPR37" - "matrix metalloproteinase measurement" "urine volume measurement"@en + "matrix metalloproteinase measurement" "level of collagen triple helix repeat-containing protein 1 in blood serum" "obsolete_ulnar hemimelia, bilateral" "level of BAG family molecular chaperone regulator 4 in blood serum" @@ -31623,8 +31619,8 @@ "Combined oxidative phosphorylation defect type 23" "Shigella flexneri" "X-12029 measurement" - "aggressive" "Barcode-Seq" + "aggressive" "level of protein argonaute-3 in blood serum" "Xq27.3q28 duplication syndrome" "Gray" @@ -31665,8 +31661,8 @@ "malignant breast melanoma" "IgG plasma cell" "obsolete_umbilical cord" - "ILSXISS7/TejJ" "UL-16 binding protein 5" + "ILSXISS7/TejJ" "Stridor" "level of ciliogenesis-associated TTC17-interacting protein in blood serum" "open-angle glaucoma" @@ -31740,10 +31736,10 @@ "level of lysosomal acid glucosylceramidase in blood serum" "gene" "hydroxyacylglutathione hydrolase-like protein" - "nontoxic goiter" "mature Vgamma2-negative thymocyte" - "level of outer dynein arm-docking complex subunit 4 in blood serum" + "nontoxic goiter" "3-(1H-indol-3-yl)propanoic acid" + "level of outer dynein arm-docking complex subunit 4 in blood serum" "pericytic neoplasm" "SOSP-9607" "mucinous adenocarcinoma of the appendix" @@ -31774,8 +31770,8 @@ "spinal muscular atrophy, facioscapulohumeral type" "Reduced coagulation factor V activity" "lysophosphatidylcholine acyltransferase 2 measurement" - "dilated cardiomyopathy 1EE" "N-stearoyl-sphingadienine (d18:2/18:0) measurement" + "dilated cardiomyopathy 1EE" "Paresthesia" "autosomal recessive limb-girdle muscular dystrophy type R18" "developmental and epileptic encephalopathy, 1" @@ -31887,11 +31883,11 @@ "fraction E immature B cell" "language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia" "obsolete_partial deletion of chromosome 12" + "obsolete_Turner syndrome due to structural X chromosome anomalies" "obsolete_spinocerebellar ataxia type 18" "epithelioid type angiomyolipoma" - "obsolete_Turner syndrome due to structural X chromosome anomalies" - "CS57677" "obsolete_maternal uniparental disomy of chromosome 21" + "CS57677" "cytokine receptor-like factor 1:cardiotrophin-like cytokine factor 1 complex measurement" "level of inositol 1,4,5-triphosphate receptor associated 2 in blood serum" "thioredoxin domain-containing protein 11 measurement" @@ -31923,19 +31919,19 @@ "mitochondrial DNA depletion syndrome 4a" "X-24831 measurement" "carnitine palmitoyl transferase II deficiency, myopathic form" - "level of calcyphosin in blood serum" "triacylglycerol 58:11" + "level of calcyphosin in blood serum" "smoking initiation" "Ulnar hypoplasia - split foot" "disintegrin and metalloproteinase domain-containing protein 7" "Lethal encephalopathy due to mitochondrial and peroxisomal fission defect" "mitogen-activated protein kinase kinase kinase 5" - "NGFI-A-binding protein 2 measurement" "angiotensin-converting enzyme 2 measurement" + "NGFI-A-binding protein 2 measurement" "obsolete HTRA1-related cerebral small vessel disease" "augurin measurement" - "Lowry-Wood syndrome" "obsolete_Lowe-Kohn-Cohen syndrome" + "Lowry-Wood syndrome" "T5-1" "calciol" "level of ethanolamine kinase 1 in blood serum" @@ -31963,8 +31959,8 @@ "familial visceral amyloidosis" "FUN14 domain-containing protein 1" "neurodegeneration with brain iron accumulation 5" - "Dystrophic epidermolysis bullosa" "level of disintegrin and metalloproteinase domain-containing protein 7 in blood serum" + "Dystrophic epidermolysis bullosa" "obsolete_urocanic aciduria" "branchial arch disease" "blood island" @@ -31997,8 +31993,8 @@ "site" "Benign Conjunctival Neoplasm" "obsolete_partial deletion of the long arm of chromosome 12" - "progressive deafness with stapes fixation" "obsolete_Schinzel-Giedion syndrome" + "progressive deafness with stapes fixation" "obsolete_X-linked intellectual disability, Schutz type" "array scanner" "level of 2,4-dienoyl-CoA reductase [(3E)-enoyl-CoA-producing], mitochondrial in blood" @@ -32043,8 +32039,8 @@ "SRSF protein kinase 2" "level of uncharacterized protein C4orf36 in blood serum" "thioredoxin-interacting protein measurement" - "obsolete_renal-genital-middle ear anomalies" "Chorioretinitis" + "obsolete_renal-genital-middle ear anomalies" "Familial chondromalacia patellae" "obsolete_glycine encephalopathy" "disorder of glycolysis" @@ -32096,8 +32092,8 @@ "adapter molecule CRK measurement" "level of KH domain-containing RNA-binding protein QKI in blood serum" "dihomo-linolenoyl-choline measurement" - "root tip" "premature menopause" + "root tip" "obsolete_ventricular myocardium" "hypertrophy" "non-small cell lung adenocarcinoma" @@ -32148,9 +32144,9 @@ "concentration of large VLDL particles measurement" "Primary basilar impression" "Mitochondrial myopathy" - "ANGPTL8 measurement"@en "female infertility due to oocyte meiotic arrest" "myopathy, centronuclear, 5" + "ANGPTL8 measurement"@en "level of protocadherin-8 in blood serum" "blood 13,16,19-Docosatrienoic acid amount" "posterior amorphous corneal dystrophy" @@ -32169,8 +32165,8 @@ "listeriolysin" "steroidogenic acute regulatory protein, mitochondrial measurement" "level of T-cell immunoglobulin and mucin domain-containing protein 4 in blood" - "Tube feeding" "retinal artery occlusion" + "Tube feeding" "NCI-H2073" "Swiss5" "beta thalassemia" @@ -32307,11 +32303,11 @@ "methyl indole-3-acetate measurement" "Aspiration" "spondyloperipheral dysplasia" - "delphinine measurement" "electrocardiography" "Beckwith-Wiedemann syndrome due to 11p15 microduplication" "coloboma of eyelid" "obsolete_left atrium" + "delphinine measurement" "anti-CD28" "obsolete_trisomy 20p" "GM12236" @@ -32349,10 +32345,10 @@ "breast papillary carcinoma" "ethanolamine kinase 2" "root mean square of the successive differences of inter beat intervals" - "obsolete_8p inverted duplication/deletion syndrome" "developmental and epileptic encephalopathy, 4" "transcription factor SOX-9" "obsolete_PARC syndrome" + "obsolete_8p inverted duplication/deletion syndrome" "level of huntingtin-interacting protein 1 in blood" "mosaic trisomy 1" "DnaJ homolog subfamily A member 4" @@ -32385,9 +32381,9 @@ "obsolete_pili bifurcati" "S-formylglutathione hydrolase measurement" "obsolete_isolated lissencephaly type 1 without known genetic defects" - "endodermal sinus tumor" "level of retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta in blood serum" "protein kinase C-binding protein NELL1" + "endodermal sinus tumor" "NCI-H2135" "protein kish-A measurement" "Spinacia oleracea" @@ -32459,8 +32455,8 @@ "3-Methylcrotonyl glycine measurement" "obsolete_congenital Horner syndrome" "Impacted tooth" - "amylase measurement" "obsolete_peripheral dysostosis" + "amylase measurement" "atelosteogenesis" "level of musculin in blood serum" "transient hypogammaglobulinemia of infancy" @@ -32506,11 +32502,11 @@ "DnaJ homolog subfamily B member 4" "obsolete_autosomal dominant slowed nerve conduction velocity" "N-isovalerylglycine" + "9,10-DiHODE" "GM17185" "level of phosphoribosyltransferase domain-containing protein 1 in blood serum" "tissue alpha-L-fucosidase" "diacylglycerol kinase beta" - "9,10-DiHODE" "obsolete_familial visceral myopathy" "obsolete_epidermolytic ichthyosis" "BisChIP-Seq" @@ -32550,10 +32546,10 @@ "SSB-Seq" "long-chain fatty acid transport protein 4" "obsolete_benign recurrent intrahepatic cholestasis type 2" - "obsolete_congenital ectropion" "wnt inhibitory factor 1 measurement" "vesicle-associated membrane protein 1" "ptosis-syndactyly-learning difficulties syndrome" + "obsolete_congenital ectropion" "short-rib thoracic dysplasia 6 with or without polydactyly" "Congenital intestinal disease due to an enzymatic defect" "level of glutaredoxin-related protein 5 in blood" @@ -32561,8 +32557,8 @@ "E3 ubiquitin-protein ligase pellino homolog 2" "GM12865" "level of protocadherin beta-15 in blood" - "sci-RNA-seq3" "gamma-aminoisobutyric acid measurement"@en + "sci-RNA-seq3" "Ovarian Endometrioid Adenocarcinoma" "nicotinamide riboside measurement" "lateral occipital cortex volume measurement"@en @@ -32602,9 +32598,9 @@ "glutathione peroxidase 7" "recessive spherocytosis"@en "Huntington disease-like syndrome" - "obsolete_torsade-de-pointes syndrome with short coupling interval" "input DNA" "nuclear apoptosis-inducing factor 1" + "obsolete_torsade-de-pointes syndrome with short coupling interval" "thioredoxin-like protein 1" "Hyperostosis" "sudden sensorineural hearing loss" @@ -32614,8 +32610,8 @@ "Clark level II" "level of DDB1- and CUL4-associated factor 11 in blood serum" "hypoplastic left heart syndrome 2" - "Disorder of bile acid synthesis" "obsolete_ureter" + "Disorder of bile acid synthesis" "novobiocin" "neuropathy, congenital hypomelinating" "tongue neoplasm" @@ -32647,12 +32643,12 @@ "Retractile testis" "obsolete_Ankylosing vertebral hyperostosis with tylosis" "level of sequestosome-1 in blood serum" - "obsolete_tuberous sclerosis" "obsolete_acral dystrophic epidermolysis bullosa" "Corneal dystrophy - perceptive deafness" + "obsolete_tuberous sclerosis" + "Secretory diarrhea" "thioredoxin measurement" "sodium nitroprusside" - "Secretory diarrhea" "hereditary cerebellar ataxia" "obsolete_hyperphosphatasia-intellectual disability syndrome" "AR-C124910XX measurement" @@ -32686,8 +32682,8 @@ "MC-Hi-C" "GRIP and coiled-coil domain-containing protein 1" "Charcot-Marie-Tooth disease type 4" - "X-24870 measurement" "cardiovascular cancer" + "X-24870 measurement" "autosomal dominant progressive external ophthalmoplegia" "peritrophic membrane" "troglitazone" @@ -32714,15 +32710,15 @@ "obsolete_rhombomere 8" "granule cell layer dentate gyrus volume" "5-hydroxytryptophol measurement" - "obsolete_partial duplication of the long arm of chromosome X" "osteocraniostenosis" "level of serine protease inhibitor Kazal-type 5 in blood" "carotenoid measurement" - "CACH syndrome" - "hepatitis B virus X-interacting protein" + "obsolete_partial duplication of the long arm of chromosome X" "cold-induced vasodilation"@en + "hepatitis B virus X-interacting protein" "campylobacteriosis" "Helicobacter pylori J99" + "CACH syndrome" "level of ataxin-3 in blood" "Bradyrhizobium japonicum USDA 110" "rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction" @@ -32766,8 +32762,8 @@ "taste liking measurement" "Breast mass" "GM09581" - "childhood optic tract astrocytoma" "obsolete_ichthyosis prematurity syndrome" + "childhood optic tract astrocytoma" "level of tachykinin-4 in blood serum" "level of protein SEC13 in blood serum" "Congenital cataract microcornea with corneal opacity" @@ -32832,19 +32828,19 @@ "obsolete_acrofacial dysostosis, Palagonia type" "interleukin 19 measurement" "androstenediol (3beta,17beta) monosulfate (2) measurement" - "obsolete developmental defect of the eye" "concentration unit" "level of calcyphosin-like protein in blood serum" - "intellectual disability, X-linked 21" + "obsolete developmental defect of the eye" "ETS domain-containing protein Elk-4" + "intellectual disability, X-linked 21" "staphylococcus phage virus seropositivity" "hephaestin-like protein 1 measurement" - "vaginal adenosarcoma" "clonal hematopoiesis mutation measurement"@en + "vaginal adenosarcoma" "triacylglycerol 48:1 measurement"@en "neutral ceramidase measurement" - "LP.06 six leaves visible stage" "coronavirus infectious disease" + "LP.06 six leaves visible stage" "level of Phosphatidylcholine (O-16:1_20:4) in blood serum" "segmentation 26+ somites" "level of xyloside xylosyltransferase 1 in blood serum" @@ -33058,8 +33054,8 @@ "obsolete_cephalocele" "monensin A" "obsolete coloboma of optic disk" - "demethylphosphinothricin measurement" "Orofaciodigital syndrome type 8" + "demethylphosphinothricin measurement" "acromesomelic dysplasia 2B" "central nervous system vasculitis" "protein PALS2" @@ -33172,9 +33168,9 @@ "familial hypocalciuric hypercalcemia 3" "Tay-Sachs disease, B1 variant" "obsolete_Usher syndrome type 2" - "total brassicasterol measurement"@en "sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis" "Ellis-van Creveld syndrome" + "total brassicasterol measurement"@en "triglycerides in medium HDL measurement " "level of doublecortin domain-containing protein 2C in blood" "obsolete_Richieri Costa-Pereira syndrome" @@ -33229,10 +33225,10 @@ "Eisenmenger syndrome" "obsolete_Tay-Sachs disease, b variant, juvenile form" "CD2 molecule" - "lysosomal Pro-X carboxypeptidase measurement" "pharyngula prim-25" - "2-hydroxynervonate measurement" + "lysosomal Pro-X carboxypeptidase measurement" "trait in response to erlotinib" + "2-hydroxynervonate measurement" "calcium-regulated heat-stable protein 1" "HUES28" "obsolete_attenuated familial adenomatous polyposis" @@ -33328,8 +33324,8 @@ "neurodevelopmental disorder with seizures and brain abnormalities" "Dnase I SIM" "level of serine protease inhibitor Kazal-type 4 in blood" - "ELF-1" "obsolete_isolated focal cortical dysplasia type Ic" + "ELF-1" "visuospatial function measurement"@en "disabled homolog 2" "obsolete_Niemann-Pick disease type C, severe perinatal form" @@ -33449,9 +33445,9 @@ "obsolete_Ehlers-Danlos syndrome type 11" "indoleacetate measurement" "obsolete autosomal trisomy" + "obsolete_McDonough syndrome" "Broad-based gait" "esophagogastric junction" - "obsolete_McDonough syndrome" "transmembrane protein 2 measurement" "esophageal lipoma" "Mungan syndrome" @@ -33466,20 +33462,20 @@ "Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation" "level of MAM domain-containing glycosylphosphatidylinositol anchor protein 1 in blood" "cornea" - "5-methylthioribose measurement" "level of serine protease inhibitor Kazal-type 6 in blood" + "5-methylthioribose measurement" "VACTERL with hydrocephalus" "multiple myeloma" "hemoglobin subunit zeta" "undecenoylcarnitine (C11:1) measurement" "blood galactosylceramidase activity measurement"@en - "obsolete_Liddle syndrome" "CADASIL" "obsolete_gonad primordium" "X-06350 measurement" "Spastic paraplegia - glaucoma - intellectual disability" "ectodermal dysplasia-blindness syndrome" "coronary atherosclerosis measurement" + "obsolete_Liddle syndrome" "microcephalic primordial dwarfism, Alazami type" "fully-elongated embryo Ce" "Abnormality of the gastrointestinal tract" @@ -33493,21 +33489,21 @@ "EEG with generalized epileptiform discharges" "cholesteryl ester 17:0 measurement" "glycerophosphoserine" + "Hypotrichosis - lymphedema - telangiectasia" "Burkholderia lata" "level of adaptin ear-binding coat-associated protein 2 in blood serum" "distal convoluted tubule" - "Hypotrichosis - lymphedema - telangiectasia" "Tarlov Cysts" - "9q31.1q31.3 microdeletion syndrome" "Undifferentiated Gallbladder Carcinoma" + "9q31.1q31.3 microdeletion syndrome" "autosomal recessive nonsyndromic hearing loss 86" "pharyngeal arch artery 4" "glycogen storage disease due to liver phosphorylase kinase deficiency" "cochlin measurement" "pregnancy-specific beta-1-glycoprotein 4" - "Anonychia - microcephaly" "anti-CTCF" "chromosome 14q11-q22 deletion syndrome" + "Anonychia - microcephaly" "thioredoxin-like protein 4A" "obsolete_hyperkeratosis lenticularis perstans" "2q37 microdeletion syndrome" @@ -33656,8 +33652,8 @@ "Hexanoyl glycine measurement" "Unilateral deafness" "Benign Ovarian Brenner Tumor" - "X-linked intellectual disability, Wittner type" "oculoauriculofrontonasal syndrome" + "X-linked intellectual disability, Wittner type" "level of neurexin-3-alpha in blood serum" "Lactobacillus hilgardii" "centrifuge" @@ -33678,9 +33674,9 @@ "4-acetamidophenylglucuronide measurement" "Meleagris gallopavo" "obsolete_Salla disease" + "obsolete_mandibular lateral line neuromast" "digenic alpha thalassemia spectrum" "level of integrin beta-1 in blood serum" - "obsolete_mandibular lateral line neuromast" "hereditary site-specific ovarian cancer syndrome" "CS57827" "renal connecting tubule" @@ -33818,8 +33814,8 @@ "DNA-binding protein SATB1 measurement" "protein measurement" "tumor necrosis factor, receptor superfamily, member 5 measurement"@en - "skin carcinoma" "Swiss9" + "skin carcinoma" "body ratio measurement" "obsolete_distal trisomy 2q" "phosphatidylcholine acyl-alkyl C34:2 measurement" @@ -33832,9 +33828,9 @@ "centrosome-associated protein ALMS1" "Fuhrmann syndrome" "nectin-3 measurement" + "obsolete_incontinentia pigmenti" "Uterine Carcinosarcoma" "obsolete_appendage" - "obsolete_incontinentia pigmenti" "malignant testicular Leydig cell tumor" "cerebral amyloid angiopathy, APP-related" "level of protein BUD31 in blood serum" @@ -33846,8 +33842,8 @@ "Faundes-Banka syndrome" "sodium channel protein type 3 subunit alpha" "HUES13" - "Death in early adulthood" "Deafness - hypogonadism" + "Death in early adulthood" "myofibrillar myopathy 9 with early respiratory failure"@en "enterobiasis" "Alexa Fluor 555" @@ -33873,8 +33869,8 @@ "normocytic anemia" "serine/arginine-rich splicing factor 6" "GripTite 293 MSR cell" - "level of neuronal-specific septin-3 in blood serum" "obsolete_syndromic gastroduodenal malformation" + "level of neuronal-specific septin-3 in blood serum" "immune deficiency disease" "bitter alcoholic beverage consumption measurement" "bladder tumor" @@ -33978,6 +33974,7 @@ "obsolete_delayed membranous cranial ossification" "protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 measurement" "pelvic neoplasm"@en + "collagen alpha-1(VIII) chain measurement" "enzootic pneumonia of calves" "Kin-0" "level of pleckstrin homology domain-containing family M member 2 in blood serum" @@ -33986,7 +33983,6 @@ "time to first cigarette measurement" "autosomal recessive Parkinson disease 14" "spectrophotometer" - "collagen alpha-1(VIII) chain measurement" "brain stem hemangioblastoma" "interleukin-28B" "obsolete_APC-related attenuated familial adenomatous polyposis" @@ -34014,10 +34010,10 @@ "chronic pain syndrome" "catalepsy" "obsolete_generalized resistance to thyroid hormone" - "Short stature - pituitary and cerebellar defects - small sella turcica" "glucose-1-phosphate measurement"@en "Desulfotomaculum reducens MI-1" "polypeptide N-acetylgalactosaminyltransferase 2" + "Short stature - pituitary and cerebellar defects - small sella turcica" "level of poly [ADP-ribose] polymerase tankyrase-1 in blood serum" "white sponge nevus 1" "level of ADP-ribosylation factor GTPase-activating protein 2 in blood serum" @@ -34147,12 +34143,12 @@ "level of alpha-N-acetylneuraminide alpha-2,8-sialyltransferase in blood serum" "regulator of G-protein signaling 14" "NKG2D ligand 2 measurement" - "PD20" "paronychia" "phenylephrine" "level of nuclear envelope phosphatase-regulatory subunit 1 in blood serum" "ubiquitin-like modifier-activating enzyme 1" "level of melanocyte protein Pmel 17 in blood serum" + "PD20" "retina lymphoma" "level of ETS translocation variant 2 in blood serum" "Rare genetic gastroenterological disease" @@ -34162,15 +34158,15 @@ "splicing factor 1 measurement" "antioxidant measurement" "5-oxo-ETE measurement" - "obsolete_hereditary sclerosing poikiloderma with tendon and pulmonary involvement" "desmosterolosis" "level of serine protease inhibitor Kazal-type 8 in blood" "cysteine sulfinic acid measurement" - "obsolete_congenital disorder of glycosylation" - "multiple sclerosis symptom measurement"@en "PC(19:3(10Z,13Z,16Z)/0:0)" + "obsolete_hereditary sclerosing poikiloderma with tendon and pulmonary involvement" "Zollinger-Ellison Syndrome" + "multiple sclerosis symptom measurement"@en "level of GRB2-related adapter protein in blood serum" + "obsolete_congenital disorder of glycosylation" "complement C1q tumor necrosis factor-related protein 4" "level of BAG family molecular chaperone regulator 3 in blood" "Rothmund-Thomson syndrome" @@ -34237,22 +34233,22 @@ "AT-rich interactive domain-containing protein 4B" "Tibial pseudarthrosis" "myeloid leukemia cell line" + "level of NEDD8 protein in blood serum" "obsolete_autosomal recessive spastic paraplegia type 67" "testicular hydrocele" - "level of NEDD8 protein in blood serum" "14q24.1q24.3 microdeletion syndrome" "Undifferentiated Ovarian Carcinoma" "level of dihydroorotate dehydrogenase (quinone), mitochondrial in blood" "pharyngeal arch artery 5" "neurogenic bowel" "cytoplasmic tyrosine-protein kinase BMX measurement" + "Muscle fiber actin filament accumulation" "intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency" "wet beriberi" - "Muscle fiber actin filament accumulation" "obsolete major hypertriglyceridemia" + "level of RNA-binding protein with multiple splicing in blood" "chromosome 16p13.3 duplication syndrome" "riddelliine" - "level of RNA-binding protein with multiple splicing in blood" "isolated anterior cervical hypertrichosis" "hereditary sensory and autonomic neuropathy type 1B" "obsolete_BY4741" @@ -34395,8 +34391,8 @@ "consortium member" "tartarate measurement" "level of actin-binding protein WASF3 in blood" - "obsolete_olfactory pit" "neurodevelopmental disorder with absent speech and movement and behavioral abnormalities" + "obsolete_olfactory pit" "level of leukocyte cell-derived chemotaxin-2 in blood serum" "CS57828" "incomplete abortion" @@ -34428,8 +34424,8 @@ "Ovarian Hyperandrogenism" "processed genotype data file" "phosphoglyceric acid measurement"@en - "Ran GTPase-activating protein 1" "myoclonic cerebellar dyssynergia" + "Ran GTPase-activating protein 1" "aortic aneurysm, familial thoracic 6" "sulfhydryl oxidase 2 measurement" "hippocampus molecular layer volume" @@ -34474,10 +34470,10 @@ "X-08402 measurement" "Glaucoma - sleep apnea" "Bone Anteversion" - "HCC0630" "xylosyl- and glucuronyltransferase LARGE1" - "paternal 20q13.2q13.3 microdeletion syndrome" + "HCC0630" "dendritic cell" + "paternal 20q13.2q13.3 microdeletion syndrome" "protein dpy-30" "response to smoking cessation agent" "Microcystic Renal Disease" @@ -34503,8 +34499,8 @@ "stromal membrane-associated protein 1 measurement" "Genetic cranial malformation" "RalBP1-associated Eps domain-containing protein 1" - "obsolete_entorhinal cortex" "X-linked creatine transporter deficiency" + "obsolete_entorhinal cortex" "RUN and FYVE domain-containing protein 1 measurement" "SH3 and multiple ankyrin repeat domains protein 3" "Retinal pigment epithelial atrophy" @@ -34571,8 +34567,8 @@ "Uterine Corpus Lipoleiomyoma" "level of fibromodulin in blood serum" "obsolete_Duchenne muscular dystrophy" - "level of E3 ubiquitin-protein ligase LRSAM1 in blood serum" "phosphatidylcholine acyl-alkyl C38:6 measurement" + "level of E3 ubiquitin-protein ligase LRSAM1 in blood serum" "level of eIF5-mimic protein 1 in blood serum" "scirrhous adenocarcinoma" "obsolete organic cyclic compound biosynthetic process" @@ -34670,8 +34666,8 @@ "X-linked complex neurodevelopmental disorder" "Fraser syndrome" "ADP-ribose glycohydrolase MACROD1" - "lymphoid MHC-II-negative classical monocyte" "Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature" + "lymphoid MHC-II-negative classical monocyte" "root structure" "premature ovarian failure 20" "obsolete lethal restrictive dermopathy" @@ -34689,8 +34685,8 @@ "adult malignant schwannoma" "level of eukaryotic translation initiation factor 3 subunit G in blood serum" "obsolete_T-B+ severe combined immunodeficiency due to JAK3 deficiency" - "level of neural cell adhesion molecule 2 in blood serum" "muscle cramp" + "level of neural cell adhesion molecule 2 in blood serum" "level of COMM domain-containing protein 9 in blood serum" "synovial membrane of synovial joint" "polypeptide N-acetylgalactosaminyltransferase 3" @@ -34720,8 +34716,8 @@ "microcornea-glaucoma-absent frontal sinuses syndrome" "DCC-interacting protein 13-beta" "Familial ocular anterior segment mesenchymal dysgenesis" - "L-Tryptophan measurement" "Dyssegmental dysplasia - glaucoma" + "L-Tryptophan measurement" "juvenile nasopharyngeal angiofibroma" "bilateral parasagittal parieto-occipital polymicrogyria" "CD11c-low plasmacytoid dendritic cell" @@ -34779,13 +34775,13 @@ "salicylurate measurement"@en "neurodevelopmental disorder with poor growth and behavioral abnormalities" "obsolete_Lhermitte-Duclos disease" - "level of thialysine N-epsilon-acetyltransferase in blood" "deaf blind hypopigmentation syndrome, Yemenite type" + "level of thialysine N-epsilon-acetyltransferase in blood" "hepatocyte growth factor activator measurement" "obsolete_isolated congenital alacrima" "level of pantetheinase in blood" - "icteric index" "obsolete_dysostosis, Stanescu type" + "icteric index" "level of LIM domain-binding protein 1 in blood serum" "Hypoplastic anterior commissure" "level of calcium-binding protein 7 in blood serum" @@ -34804,8 +34800,8 @@ "triglycerides in small LDL measurement " "obsolete_partial trisomy/tetrasomy of the short arm of chromosome 12" "artemin measurement" - "Corpuscular Hemoglobin Concentration Distribution Width" "level of 60S acidic ribosomal protein P2 in blood serum" + "Corpuscular Hemoglobin Concentration Distribution Width" "Rhamphochromis sp. 'chilingali'" "decadienylcarnitine measurement" "high affinity nerve growth factor receptor measurement" @@ -34822,9 +34818,9 @@ "CB128" "sulfhydryl oxidase 2" "neovascular glaucoma" - "beta-crystallin B3" "linoleoylcarnitine (C18:2) measurement" "3,4,5-Trimethoxycinnamic acid measurement" + "beta-crystallin B3" "xylem" "obsolete_Keratosis palmoplantaris striata" "parotid disease" @@ -34852,9 +34848,9 @@ "Headache" "level of synaptotagmin-2 in blood serum" "protein p13 MTCP-1 measurement" - "serum immunoglobulin measurement" "Wide mouth" "level of Isoleucyl-Threonine in blood" + "serum immunoglobulin measurement" "myofibrillar myopathy 6" "thermal cycler" "Heterochromia iridis" @@ -34867,8 +34863,8 @@ "obsolete partial autosomal trisomy/tetrasomy" "obsolete_CNS brain hippocampus MMHCC" "GM17746" - "triacylglycerol 52:4" "transmembrane protein 59-like measurement" + "triacylglycerol 52:4" "liver lipoma" "neural rod" "level of alpha-2,8-sialyltransferase 8B in blood serum" @@ -34910,11 +34906,11 @@ "level of plakophilin-2 in blood serum" "branched-chain amino acid metabolic process" "acute orbital inflammation" - "EP300-interacting inhibitor of differentiation 3 measurement" - "coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial measurement" "NCI-H1355" "size" + "coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial measurement" "BFTC-909" + "EP300-interacting inhibitor of differentiation 3 measurement" "gamma-glutamylcysteine synthetase deficiency" "Congenital intestinal motility disorder" "platelet measurement" @@ -34961,8 +34957,8 @@ "hyperalphalipoproteinemia" "reduce cholesterol levels" "level of regulator of chromosome condensation in blood" - "YEPD" "response to low sodium diet" + "YEPD" "theca cell layer" "Summitt syndrome" "phosphatidylcholine 36:1 measurement"@en @@ -35160,8 +35156,8 @@ "venom gland" "obsolete_hair follicle" "Xeroderma pigmentosum variant" - "pneumonia" "alpha-S1-casein measurement" + "pneumonia" "Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome" "binding site identification design" "pimelic acid measurement"@en @@ -35313,8 +35309,8 @@ "level of probable RNA-binding protein 18 in blood serum" "symphytine oxide" "Microcephaly - brain defect - spasticity - hypernatremia" - "carcinoma of pharynx" "obsolete_macrocephaly-developmental delay syndrome" + "carcinoma of pharynx" "obsolete_blepharonasofacial malformation syndrome" "adenosylhomocysteinase" "adverse effect" @@ -35343,11 +35339,11 @@ "autoimmune disorder of gastrointestinal tract" "data analyst" "Schwartz-Jampel syndrome" - "ribulose 5-phosphate" "Arrhinia - choanal atresia - microphthalmia" + "ribulose 5-phosphate" + "dicofol measurement"@en "Stable-Seq" "ectodermal dysplasia-cutaneous syndactyly syndrome" - "dicofol measurement"@en "lysophosphatidylcholine 16:1" "cantharidin" "pre-B-cell leukemia transcription factor-interacting protein 1" @@ -35416,8 +35412,8 @@ "leukoencephalopathy, megalencephalic" "level of cotranscriptional regulator FAM172A in blood serum" "DNA-directed DNA/RNA polymerase mu measurement" - "hydantoin-5-propionate measurement" "Abnormal optic chiasm morphology" + "hydantoin-5-propionate measurement" "CCL2 measurement" "intra-abdominal hemangioma" "obsolete_distal trisomy 4q" @@ -35433,12 +35429,12 @@ "dizziness" "hearing loss, autosomal recessive" "3-hydroxy-3-methylglutaric acid" - "polypeptide N-acetylgalactosaminyltransferase 4" "obsolete_fatal familial insomnia" - "level of troponin T, cardiac muscle in blood serum" - "Williams syndrome" "obsolete_utering smooth muscle cell" + "polypeptide N-acetylgalactosaminyltransferase 4" "pyridoxamine measurement"@en + "level of troponin T, cardiac muscle in blood serum" + "Williams syndrome" "familial primary hypomagnesemia" "severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion" "tubby-related protein 1" @@ -35472,8 +35468,8 @@ "level of secernin-3 in blood" "childhood acute lymphoblastic leukemia" "mitogen-activated protein kinase 10" - "lipemic index" "level of pantetheine hydrolase VNN2 in blood" + "lipemic index" "nicotine metabolite ratio" "intellectual disability-cardiac anomalies-short stature-joint laxity syndrome" "Erythema" @@ -35527,8 +35523,8 @@ "risk status" "millimolar" "RNU7-1-related type 1 interferonopathy" - "level of dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2 in blood serum" "arylsulfatase A measurement" + "level of dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2 in blood serum" "invasive mechanical ventilation" "costochondral joint" "cysteine--tRNA ligase, cytoplasmic" @@ -35583,11 +35579,11 @@ "obsolete_dentin dysplasia type I" "root meristem" "transmembrane protein 87B measurement" - "obsolete_syndromic epicanthus" "uncharacterized protein KIAA1467 measurement" "NCI-H1395" "mid whole plant fruit ripening stage" "epidermolysis bullosa simplex 6, generalized, with scarring and hair loss" + "obsolete_syndromic epicanthus" "BHY" "progressive supranuclear palsy-progressive non-fluent aphasia syndrome" "level of vacuolar protein sorting-associated protein 37A in blood" @@ -35620,8 +35616,8 @@ "Dendritic keratitis" "protein c-Fos" "level of a disintegrin and metalloproteinase with thrombospondin motifs 16 in blood" - "CD8-positive, CD28-negative, alpha-beta regulatory T cell" "obsolete_late-onset retinal degeneration" + "CD8-positive, CD28-negative, alpha-beta regulatory T cell" "combined oxidative phosphorylation deficiency 55" "coagulation factor measurement" "T-cell surface protein tactile" @@ -35658,10 +35654,10 @@ "alopecia, androgenetic, 1" "obsolete_essential fructosuria" "obsolete_non-syndromic esophageal malformation" + "RNA-DNA SPRITE" "H/ACA ribonucleoprotein complex subunit 2" "closed colony random bred strain" "obsolete_left ventricle" - "RNA-DNA SPRITE" "level of protein polybromo-1 in blood serum" "B- and T-cell mixed leukemia" "biopsy site" @@ -35679,10 +35675,10 @@ "transforming growth factor beta-2 measurement" "GYG1-related disorder of glycogen metabolism" "carcinogen role" - "COV318" "Non-syndromic cerebral malformation due to abnormal neuronal migration" - "craniofacial microsomia" + "COV318" "response to dietary potassium supplementation" + "craniofacial microsomia" "retina-specific copper amine oxidase measurement" "thrombin activatable fibrinolysis inhibitor activation peptide measurement" "level of ubiquitin-conjugating enzyme E2 A in blood serum" @@ -35825,8 +35821,8 @@ "HCC1195" "obsolete_inferior colliculus" "obsolete_cockayne syndrome" - "propionic acid measurement"@en "obsolete_spinal muscular atrophy with respiratory distress" + "propionic acid measurement"@en "obsolete_response to montelukast" "biomolecular annotation design" "smoking behavior" @@ -35877,9 +35873,9 @@ "activator of apoptosis harakiri" "X-08988 measurement" "adrenogenital syndrome" - "Glomerulonephritis - sparse hair - telangiectasis" "RK-13" "obsolete_forelimb" + "Glomerulonephritis - sparse hair - telangiectasis" "Brain Stem Hemorrhage, Traumatic" "level of 28 kDa heat- and acid-stable phosphoprotein in blood" "Sarcomatoid Carcinoma" @@ -35887,10 +35883,10 @@ "glucuronide of C10H18O2 (1) measurement" "inborn disorder of amino acid transport" "commensal bacterial infectious disease" + "obsolete_Opitz G/BBB syndrome" "atherosclerosis" "level of Ras-related protein Rab-6A in blood serum" "snurportin-1" - "obsolete_Opitz G/BBB syndrome" "galectin-2 measurement" "lethal faciocardiomelic dysplasia" "UWR1" @@ -36015,8 +36011,8 @@ "astrocyte" "GM17136" "10x Xenium"@en - "beriberi" "benign neoplasm of parathyroid gland" + "beriberi" "ectodysplasin-a, secreted form measurement" "Rare odontal or periodontal disorder" "prolactin producing pituitary tumor" @@ -36069,8 +36065,8 @@ "obsolete_IMAGe syndrome" "piwi-like protein 1 measurement" "hereditary spastic paraplegia 73" - "LDL peak particle diameter measurement" "lysophosphatidylcholine 18:0" + "LDL peak particle diameter measurement" "HCC1162" "Vissers-Bodmer syndrome" "dihydropyrimidinase" @@ -36105,7 +36101,6 @@ "obsolete_distal trisomy 5q" "neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities" "biexponential transformation"@en - "biexponential transformation" "mbn2" "interferon regulatory factor 6" "Brucella melitensis" @@ -36117,12 +36112,12 @@ "alive (follow-up status)" "obsolete_axial spondylometaphyseal dysplasia" "Male infertility with spermatogenesis disorder due to single gene mutation" - "obsolete_non-acquired combined pituitary hormone deficiency" "familial primary hypomagnesemia with normocalciuria and normocalcemia" "mesothelin-like protein" "segmental progressive overgrowth syndrome with fibroadipose hyperplasia" - "X-12749 measurement" + "obsolete_non-acquired combined pituitary hormone deficiency" "San Eleno ecotype" + "X-12749 measurement" "Behcet's syndrome" "Varicella Zoster infection" "procollagen-lysine,2-oxoglutarate 5-dioxygenase 2" @@ -36173,7 +36168,6 @@ "albinism-hearing loss syndrome" "level of protein RER1 in blood serum" "specimen"@en - "specimen" "macoilin measurement" "beta-N-acetylhexosaminidase activity" "dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit" @@ -36210,8 +36204,8 @@ "Stuve-Wiedemann syndrome 2" "glioma susceptibility 1" "dexamethasone" - "obsolete_acute myeloid leukemia with CEBPA somatic mutations" "obsolete_beta-ureidopropionase deficiency" + "obsolete_acute myeloid leukemia with CEBPA somatic mutations" "descending colon" "PE RAD-Seq" "level of vacuolar protein sorting-associated protein 28 in blood" @@ -36314,9 +36308,9 @@ "level of phospholipase A2 inhibitor and Ly6/PLAUR domain-containing protein in blood" "congenital heart defect-round face-developmental delay syndrome" "obsolete_congenital dyserythropoietic anemia" - "Thymic Sarcomatoid Carcinoma" "Patellar dislocation" "regulator of G-protein signaling 16" + "Thymic Sarcomatoid Carcinoma" "DAN-G" "T-cell-specific surface glycoprotein CD28" "gastric cancer" @@ -36325,8 +36319,8 @@ "obsolete_telecanthus" "early pro-B cell" "Systemic lupus erythematosus" - "PIK3CA/PIK3R1 measurement" "obsolete_pleomorphic breast carcinoma" + "PIK3CA/PIK3R1 measurement" "Borderline Ovarian Brenner Tumor" "developmental and epileptic encephalopathy, 66" "tacrine" @@ -36393,9 +36387,9 @@ "Blepharophimosis - ptosis - esotropia - syndactyly - short stature" "ergothioneine" "coisogenic strain" - "level of pyruvate carboxylase, mitochondrial in blood serum" "floral organ formation stage" "NHP2-like protein 1" + "level of pyruvate carboxylase, mitochondrial in blood serum" "carcinoma, non-human animal" "pituitary homeobox 3" "integumental cell" @@ -36473,8 +36467,8 @@ "level of tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 in blood serum" "OAW42" "hypoparathyroidism-retardation-dysmorphism syndrome" - "Amelogenesis imperfecta and gingival hyperplasia syndrome" "basophil measurement" + "Amelogenesis imperfecta and gingival hyperplasia syndrome" "heat shock 70 kDa protein 6 measurement" "Trichiasis" "NKG2-E type II integral membrane protein measurement" @@ -36538,10 +36532,10 @@ "JHH-4" "level of TSC22 domain family protein 3 in blood serum" "transforming growth factor beta-3 measurement" - "Increased intestinal transit time" "obsolete_taurodontism" - "granulosa cell layer" + "Increased intestinal transit time" "obsolete_16q24.3 microdeletion syndrome" + "granulosa cell layer" "level of ubiquitin carboxyl-terminal hydrolase 4 in blood serum" "C-reactive protein measurement" "netrin-1 measurement" @@ -36557,8 +36551,8 @@ "Rare disease with thoracic aortic aneurysm and aortic dissection" "Sarcomatoid Mesothelioma" "obsolete_middle temporal gyrus" - "purine measurement"@en "cellular modification design" + "purine measurement"@en "AMSH-like protease measurement" "Loeys-Dietz syndrome" "brachydactyly-mesomelia-intellectual disability-heart defects syndrome" @@ -36571,15 +36565,15 @@ "interstitial emphysema" "collagen alpha-1(VI) chain measurement" "Agenesis of corpus callosum" - "level of radiation-inducible immediate-early gene IEX-1 in blood serum" "varicose ulcer" + "level of radiation-inducible immediate-early gene IEX-1 in blood serum" "Hypochromic anemia" "common bile duct disorder" "intellectual disability, autosomal dominant 53" "susceptibility to rheumatic fever measurement" "postinfectious vasculitis" - "Craniodigital syndrome - intellectual disability" "transmembrane protein 8B" + "Craniodigital syndrome - intellectual disability" "organelle organization" "level of transmembrane protein 52 in blood serum" "obsolete_polyglucosan body myopathy" @@ -36663,8 +36657,8 @@ "obsolete_isolated punctate palmoplantar keratoderma" "Jaundice" "Agrobacterium tumefaciens" - "Abnormal cerebrospinal fluid morphology" "Hyperlipoproteinemia" + "Abnormal cerebrospinal fluid morphology" "obsolete_embryonic esophageal ganglion" "benign neoplasm of cecum" "childhood epithelioid sarcoma" @@ -36768,8 +36762,8 @@ "Myelofibrosis" "arthrogryposis, distal, type 2B3" "obsolete_renal tubular dysgenesis of genetic origin" - "alive with disease" "plastin-1 measurement" + "alive with disease" "size fractionation" "level of myeloid-derived growth factor in blood serum" "Hsp70-binding protein 1" @@ -36823,9 +36817,9 @@ "obsolete_distal trisomy 6q" "peptide chain release factor 1-like, mitochondrial" "obsolete_early-onset Lafora body disease" - "obsolete_granular corneal dystrophy type II" "cholesterol to total lipids in small LDL percentage " "dorsal raphe nucleus" + "obsolete_granular corneal dystrophy type II" "ML-DmBG1-c1" "Mycoplasma gallisepticum" "spondyloepiphyseal dysplasia" @@ -36854,12 +36848,12 @@ "obsolete_MELAS syndrome" "heparan-sulfate 6-o-sulfotransferase 1 measurement" "level of alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A in blood serum" + "obsolete_split hand or/and split foot malformation" "level of retinoblastoma-like protein 2 in blood serum" "Epstein-Barr virus-associated malignant lymphoproliferative disorder" "Mahlavu" - "obsolete_split hand or/and split foot malformation" - "level of beta-defensin 112 in blood serum" "twin-to-twin transfusion syndrome" + "level of beta-defensin 112 in blood serum" "hepatoencephalopathy due to combined oxidative phosphorylation defect type 1" "DnaJ homolog subfamily B member 6" "trem-like transcript 2 protein" @@ -37101,13 +37095,13 @@ "genistein" "splenic diffuse red pulp small B-cell lymphoma" "limb-girdle muscular dystrophy" + "obsolete_metaphyseal chondrodysplasia, Jansen type" "Genetic digestive tract tumor" "Leydig cell hypoplasia" - "obsolete_metaphyseal chondrodysplasia, Jansen type" "nanomolar" "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1" - "severe pre-eclampsia" "amyotrophic lateral sclerosis type 2, juvenile" + "severe pre-eclampsia" "microsporidiosis" "heart lipoma" "level of ribonuclease P protein subunit p30 in blood serum" @@ -37160,10 +37154,10 @@ "level of synaptotagmin-6 in blood serum" "scopolamine" "Thymic Small Cell Carcinoma" + "X-24972 measurement" "level of coiled-coil domain-containing protein 9 in blood serum" "general vesicular transport factor p115" "Apis mellifera mellifera" - "X-24972 measurement" "Personality disorder" "cytochrome c oxidase subunit 5B, mitochondrial" "level of carcinoembryonic antigen-related cell adhesion molecule 7 in blood serum" @@ -37197,10 +37191,10 @@ "obsolete_congenital patella dislocation" "hematopoietic progenitor cell antigen CD34 measurement" "septopreoptic holoprosencephaly" - "homogentisate measurement" - "ancylostomiasis" "SUM185PE" + "ancylostomiasis" "level of protein FAM3A in blood serum" + "homogentisate measurement" "rRNA methyltransferase 2, mitochondrial" "blue cone monochromacy" "diabetes, deafness, developmental delay, and short stature syndrome" @@ -37228,8 +37222,8 @@ "N-acetyl-D-glucosamine kinase measurement" "Axin interactor, dorsalization-associated protein" "deep seated dermatophytosis" - "Autosomal recessive cerebellar ataxia - psychomotor retardation" "pseudohypoparathyroidism type 1C" + "Autosomal recessive cerebellar ataxia - psychomotor retardation" "thyroid follicle" "GM14474" "level of annexin A10 in blood serum" @@ -37241,8 +37235,8 @@ "cervical carcinoma cell line" "autosomal recessive myogenic arthrogryposis multiplex congenita" "1-linoleoyl-2-arachidonoyl-GPC (18:2/20:4n6) measurement" - "B-lymphoblastic leukemia/lymphoma with hypodiploidy" "obsolete_mediastinum" + "B-lymphoblastic leukemia/lymphoma with hypodiploidy" "chemical treatment" "Peters plus syndrome" "X-linked intellectual disability - macrocephaly - macroorchidism" @@ -37256,8 +37250,8 @@ "response to mycophenolic acid" "lymphedema-posterior choanal atresia syndrome" "compensatory emphysema" - "protocadherin-1" "obsolete_Ring chromosome 8" + "protocadherin-1" "proline betaine measurement" "blood group O" "hereditary hypophosphatemic rickets" @@ -37289,8 +37283,8 @@ "amyloid beta A4 precursor protein-binding family B member 1 measurement" "inositol-trisphosphate 3-kinase C" "acute lymphoblastic leukemia" - "erythrasma" "Vomiting" + "erythrasma" "break repair meiotic recombinase recruitment factor 1" "galectin-8 measurement" "GM17292" @@ -37317,9 +37311,9 @@ "obsolete_congenital absence/hypoplasia of fingers excluding thumb" "titin" "lymphatic malformation 12" + "obsolete_TARP syndrome" "level of ubiquitin domain-containing protein 2 in blood serum" "X-11850 measurement" - "obsolete_TARP syndrome" "obsolete_Inositol measurement" "obsolete_nonepidermolytic palmoplantar keratoderma" "disorder of folate metabolism and transport" @@ -37334,8 +37328,8 @@ "level of protein kinase C and casein kinase substrate in neurons protein 3 in blood serum" "OCI-AML2" "obsolete_spondyloepimetaphyseal dysplasia, Irapa type" - "treatment" "X-linked thrombocytopenia with normal platelets" + "treatment" "femtoliter" "paranasal sinus disease" "level of interferon regulatory factor 4 in blood serum" @@ -37367,8 +37361,8 @@ "neoplastic polyp" "serine:glycine ratio"@en "myocardium" - "femoral agenesis/hypoplasia, unilateral" "Arthroderma uncinatum" + "femoral agenesis/hypoplasia, unilateral" "oleic acid" "extracellular exosome" "astrocytic phosphoprotein PEA-15" @@ -37380,8 +37374,8 @@ "hemochromatosis type 2B" "HCC2935" "Bartholin gland benign neoplasm" - "Monosomy 9p" "pregnenolone 16alpha-carbonitrile" + "Monosomy 9p" "Hypoplastic scapulae" "level of tyrosine--tRNA ligase, cytoplasmic in blood" "level of zymogen granule membrane protein 16 in blood serum" @@ -37492,8 +37486,8 @@ "obsolete_response to rifampicin" "obsolete_snRNA-seq" "ataxia-tapetoretinal degeneration syndrome" - "death domain-containing protein CRADD" "level of nebulin in blood" + "death domain-containing protein CRADD" "ectodermal dysplasia with natal teeth, Turnpenny type" "metaphyseal chondrodysplasia, Jansen type" "obsolete_trichodental syndrome" @@ -37525,7 +37519,6 @@ "synaptotagmin-6" "tetrasomy" "catalase measurement" - "obsolete_autosomal recessive omodysplasia" "primary tethered cord syndrome" "West Nile virus, susceptibility to" "Vitis rotundifolia" @@ -37533,6 +37526,7 @@ "rigid spine syndrome" "cullin-4B" "CD302 molecule" + "obsolete_autosomal recessive omodysplasia" "hydroxide measurement"@en "level of histone H1.10 in blood serum" "Monomelic amyotrophy" @@ -37572,9 +37566,9 @@ "obsolete_microcytic anemia with liver iron overload" "1-palmitoyl-GPI (16:0) measurement" "triacylglycerol 51:2 measurement" - "Ficoll-Hypaque method" "macrocephaly-autism syndrome" "intellectual disability-facial dysmorphism-hand anomalies syndrome" + "Ficoll-Hypaque method" "Methicillin-Resistant Staphylococcus Aureus Pneumonia" "lipoma of face" "vaginal carcinoma" @@ -37583,9 +37577,9 @@ "Salmonella enterica subsp. indica" "icos ligand measurement" "psoriatic arthritis, susceptibility to" + "level of immunoglobulin superfamily DCC subclass member 4 in blood serum" "Dyggve-Melchior-Clausen disease" "arginyl-tRNA--protein transferase 1" - "level of immunoglobulin superfamily DCC subclass member 4 in blood serum" "leiomodin-1 measurement" "obsolete_obesity due to CEP19 deficiency" "legionella seropositivity" @@ -37605,11 +37599,11 @@ "obsolete_tibio-fibular synostosis" "language measurement" "microglial cell" + "bladder calculus" "Schimke immuno-osseous dysplasia" "MM200" "EpiRADSeq" "level of histone-lysine N-methyltransferase EZH2 in blood serum" - "bladder calculus" "inositol monophosphatase 3 measurement" "ectonucleoside triphosphate diphosphohydrolase 3 measurement" "level of spermatogenesis-associated protein 22 in blood serum" @@ -37677,8 +37671,8 @@ "SNU-C1" "beta-defensin 106 measurement" "Pseudomonas putida" - "egg cell" "response to diet"@en + "egg cell" "mosaic trisomy 18" "receptor-transporting protein 4" "obsolete_non neural ectoderm" @@ -37844,12 +37838,12 @@ "heparan sulfate glucosamine 3-O-sulfotransferase 5" "Charcot-Marie-Tooth disease, demyelinating, type 1J" "Cestode Infections" - "obsolete_hydrolethalus syndrome" "S-180" "Bartholin gland adenomyoma" "urinary sodium measurement"@en - "vitamin D metabolic process" + "obsolete_hydrolethalus syndrome" "level of phospholipase A2 in blood" + "vitamin D metabolic process" "drug-induced autoimmune hemolytic anemia" "level of microtubule-associated proteins 1A/1B light chain 3 beta 2 in blood serum" "TE85" @@ -37861,8 +37855,8 @@ "rhombomere 8" "Rhizobium etli CFN 42" "Narrow face" - "beta-1,4-glucuronyltransferase 1 measurement" "chromosome 17p13.3 duplication syndrome" + "beta-1,4-glucuronyltransferase 1 measurement" "BMP receptor type-1B" "level of plasma membrane calcium-transporting ATPase 4 in blood" "obsolete_colorectal tumor" @@ -37904,8 +37898,8 @@ "obsolete_Primary familial polycythemia" "neuropilin-1 measurement" "Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3" - "obsolete_GM1 gangliosidosis type 1" "level of glycine N-acyltransferase-like protein 2 in blood serum" + "obsolete_GM1 gangliosidosis type 1" "hypomagnesemia, seizures, and intellectual disability" "congenital sucrase-isomaltase deficiency with minimal starch tolerance" "HOS" @@ -37913,8 +37907,8 @@ "protein JTB" "diacylglycerol 30:1 measurement" "SW837" - "cholesteryl esters to total lipids in medium HDL percentage " "Ralstonia pickettii" + "cholesteryl esters to total lipids in medium HDL percentage " "microphthalmia with limb anomalies" "immunodeficiency-related disorder" "level of glyoxylate reductase/hydroxypyruvate reductase in blood serum" @@ -37961,8 +37955,8 @@ "inherited prion disease" "TraDIS sequencing" "follicular dendritic cell" - "anisakiasis" "SUM190PT" + "anisakiasis" "benign neoplasm of ear" "level of clathrin heavy chain 1 in blood serum" "nevoid basal cell carcinoma syndrome" @@ -37970,9 +37964,9 @@ "Deafness - intellectual disability, Martin-Probst type" "phosphatidylcholine O-40:6" "Lactococcus lactis subsp. cremoris" + "obsolete_X-linked intellectual disability with isolated growth hormone deficiency" "obsolete_generalized isolated dystonia" "Bohring-Opitz syndrome" - "obsolete_X-linked intellectual disability with isolated growth hormone deficiency" "response to calcineurin inhibitor" "semaphorin-3B" "scyllo-inositol measurement" @@ -37982,8 +37976,8 @@ "vasa recta ascending limb" "obsolete_oculotrichoanal syndrome" "Sinorhizobium meliloti" - "obsolete_X-linked intellectual disability, Sutherland-Haan type" "level of DnaJ homolog subfamily A member 1 in blood" + "obsolete_X-linked intellectual disability, Sutherland-Haan type" "eukaryotic translation initiation factor 4H measurement" "hyperphosphatemia" "nut allergic reaction" @@ -37999,11 +37993,11 @@ "disease related to transplantation" "obsolete_oculocutaneous albinism type 3" "Charcot-Marie-Tooth disease type 2A2" - "pneumoviridae seropositivity" "colorectal adenoma" - "gender identity disorder" + "pneumoviridae seropositivity" "anal canal" "spondylocarpotarsal synostosis syndrome" + "gender identity disorder" "coronary atherosclerosis" "blastema" "Truncus arteriosus" @@ -38016,11 +38010,11 @@ "Cleft palate - large ears - small head" "idiopathic bronchiectasis" "X-23590 measurement" - "exanthem" "acute monocytic leukemia" "glucose-galactose malabsorption" "obesity due to prohormone convertase I deficiency" "inherited acute myeloid leukemia" + "exanthem" "Recurrent tonsillitis" "G4 ChIP-seq" "Familial afibrinogenemia" @@ -38080,8 +38074,8 @@ "C-X-C motif chemokine 13 measurement" "nuclear RNA" "transcription initiation factor IIE subunit beta" - "cancer, non-human animal" "obsolete_Okihiro syndrome due to 20q13 microdeletion" + "cancer, non-human animal" "obsolete_central bilateral macrogyria" "obsolete_Axenfeld-Rieger syndrome" "serum carcinoembryonic antigen measurement" @@ -38102,10 +38096,10 @@ "autosomal recessive limb-girdle muscular dystrophy type 2D" "Ehlers-Danlos syndrome, vascular type" "occupational dermatitis" + "Rolandic epilepsy" "Scyliorhinus canicula" "level of multiple inositol polyphosphate phosphatase 1 in blood serum" "aquaporin-4" - "Rolandic epilepsy" "dynein light chain Tctex-type 3 measurement" "brainstem" "epithelium of mammary gland" @@ -38184,16 +38178,16 @@ "programmed cell death protein 1 measurement" "regulation of gonadotropin secretion" "obsolete_CINCA syndrome" - "CD11b-positive, CD27-positive natural killer cell, mouse" "obsolete_8q22.1 microdeletion syndrome" + "CD11b-positive, CD27-positive natural killer cell, mouse" + "chondroadherin measurement" "L-Histidine to 3-Indolepropionic acid ratio" "hypothyroidism, congenital, nongoitrous" - "chondroadherin measurement" + "selenoprotein S measurement" "level of UDP-glucose 6-dehydrogenase in blood serum" "Mycobacterium leprae" - "selenoprotein S measurement" - "experimental autoimmune encephalomyelitis" "SAVC" + "experimental autoimmune encephalomyelitis" "carcinoma in situ of nasopharynx" "COLO829" "Kostmann syndrome" @@ -38287,8 +38281,8 @@ "Waddling gait" "level of B-cell lymphoma/leukemia 10 in blood serum" "computational scientist" - "level of protein YAE1 in blood serum" "obsolete_Tangier disease" + "level of protein YAE1 in blood serum" "X-16570 measurement" "level of phosducin-like protein in blood serum" "level of ribose in blood" @@ -38368,9 +38362,9 @@ "cyclic AMP-dependent transcription factor ATF-1" "level of phospholipid phosphatase 4 in blood serum" "leucine-rich repeat and calponin homology domain-containing protein 4 measurement" - "obsolete_Dubowitz syndrome" "listeria seropositivity" "Blepharophimosis - radioulnar synostosis" + "obsolete_Dubowitz syndrome" "ovarian endometrial cancer" "X-21733 measurement" "neutrophil count" @@ -38418,9 +38412,9 @@ "carcinoma in situ of cecum" "CS57595" "ubiquitin D" - "Autosomal recessive spastic paraplegia type 45" "G-361" "level of activity-regulated cytoskeleton-associated protein in blood serum" + "Autosomal recessive spastic paraplegia type 45" "latent syphilis" "level of phospholipase A1 member A in blood serum" "level of testis-expressed protein 29 in blood serum" @@ -38466,9 +38460,9 @@ "chordate pharyngeal muscle" "cathepsin B measurement" "obsolete_autosomal recessive degenerative and progressive cerebellar ataxia" + "obsolete_Classic Bartter syndrome" "triacylglycerol 56:4" "atrial septal defect, sinus venosus type" - "obsolete_Classic Bartter syndrome" "Polydipsia" "level of copine-7 in blood serum" "obsolete_genetic dementia" @@ -38486,8 +38480,8 @@ "peptidyl-tRNA hydrolase 2, mitochondrial" "genotyping by high throughput sequencing" "obsolete_autosomal recessive limb-girdle muscular dystrophy type 2K" - "exfoliation syndrome, susceptibility to" "ML-DmBG3-c2" + "exfoliation syndrome, susceptibility to" "methyl jasmonate measurement" "obsolete_liver" "transportin-1" @@ -38507,9 +38501,9 @@ "oxysterol-binding protein-related protein 11 measurement" "Methicillin-Susceptible Staphylococcus Aureus Infection" "brain astrocytoma" - "Rare genetic parkinsonian disorder" "long COVID-19" "cyclic AMP-dependent transcription factor ATF-3" + "Rare genetic parkinsonian disorder" "type 1 diabetes mellitus 22" "Sulfolobus acidocaldarius" "disease course" @@ -38560,8 +38554,8 @@ "neurodevelopmental disorder with microcephaly and dysmorphic facies" "obsolete_congenital sucrase-isomaltase deficiency with starch and lactose intolerance" "sample barcode size" - "syringol sulfate measurement" "tobramycin" + "syringol sulfate measurement" "level of baculoviral IAP repeat-containing protein 7 in blood serum" "ubiquitin-conjugating enzyme E2 D3" "level of cytosolic phospholipase A2 in blood" @@ -38585,8 +38579,8 @@ "Prochlorococcus marinus subsp. pastoris str. CCMP1986" "systemic lupus erythematosus, susceptibility to, 1" "fibroblast growth factor 3" - "arfaptin-1 measurement" "presumptive midbrain" + "arfaptin-1 measurement" "obsolete_primary failure of tooth eruption" "sebaceous breast carcinoma" "fumarylacetoacetase" @@ -38606,18 +38600,18 @@ "autoimmune pulmonary alveolar proteinosis" "abdominal aortic artery calcification" "porphyria" - "obsolete_laminopathy type Decaudain-Vigouroux" "beta-defensin 107 measurement" - "Chlamydiaceae Infections" + "obsolete_laminopathy type Decaudain-Vigouroux" "pediatric osteosarcoma" "methylmercuric dicyanamide measurement" "level of Z-DNA-binding protein 1 in blood" "anti-Kaposi's sarcoma-associated herpesvirus antibody measurement"@en "obsolete_pelvic fin" "neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities" - "indeterminate colitis" "eyelid disease" + "Chlamydiaceae Infections" "level of hemoglobin subunit epsilon in blood serum" + "indeterminate colitis" "trait in response to mercaptopurine" "neurofascin measurement" "level of dual specificity mitogen-activated protein kinase kinase 5 in blood serum" @@ -38639,12 +38633,12 @@ "Magnaporthe grisea" "obsolete_colon" "Niemann-Pick disease type B" + "obsolete_retinitis pigmentosa" "protocadherin gamma-B1" "retinitis pigmentosa 12" "neuromast" "nucleic acid hybridization"@en "nucleic acid hybridization" - "obsolete_retinitis pigmentosa" "obsolete_GM1 gangliosidosis type 2" "CAST/EiJxC57BL/6J" "GM17789" @@ -38800,8 +38794,8 @@ "chronic diarrhea with villous atrophy" "Trichodysplasia - xeroderma" "level of FYVE, RhoGEF and PH domain-containing protein 3 in blood" - "acute myeloid leukemia" "familial digital arthropathy-brachydactyly" + "acute myeloid leukemia" "diffuse nonepidermolytic palmoplantar keratoderma" "Ostreococcus tauri" "U6 snRNA-associated Sm-like protein LSm3" @@ -38815,9 +38809,9 @@ "Fibulo-ulnar hypoplasia - renal anomalies" "pseudo-bulk aggregation of single-cell expression data" "polypeptide N-acetylgalactosaminyltransferase 10 measurement" + "Macrosomia - microphthalmia - cleft palate" "obsolete_myopathic intestinal pseudoobstruction" "Thyrotoxicosis" - "Macrosomia - microphthalmia - cleft palate" "HCC2911" "obsolete_MEND syndrome" "triacylglycerol 54:4 measurement"@en @@ -38850,9 +38844,9 @@ "obsolete_embryonic central brain mushroom body" "Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments" "diacylglycerol 30:0 measurement" - "OCI-LY10" "main bronchus" "neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties" + "OCI-LY10" "cholesteryl esters to total lipids in medium LDL percentage " "Joubert syndrome 29" "ulcerative colitis" @@ -38892,9 +38886,9 @@ "Leukoplakia, Hairy" "MQ887" "Miyoshi muscular dystrophy 3" - "poly(U)-binding-splicing factor PUF60" "Colorectal Diffuse Large B-Cell Lymphoma" "teratogenicity" + "poly(U)-binding-splicing factor PUF60" "UACC-62" "vulvar squamous neoplasm" "mesomelic dwarfism, Nievergelt type" @@ -38920,16 +38914,16 @@ "programmed cell death protein 5 measurement" "fluid shear stress"@en "Male infertility due to gonadal dysgenesis" - "obsolete_deafness-infertility syndrome" "lymphatic vessel neoplasm" "acute leukemia of ambiguous lineage" + "obsolete_deafness-infertility syndrome" "JK1107" - "X-linked dominant intellectual disability - epilepsy syndrome" "validation by reverse transcription PCR design" "Lacrimoauriculodentodigital syndrome" "congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome" "semaphorin-3B measurement" "ARF GTPase-activating protein GIT1" + "X-linked dominant intellectual disability - epilepsy syndrome" "level of AP-1 complex subunit gamma-like 2 in blood serum" "cranium" "anus basaloid carcinoma" @@ -38961,9 +38955,9 @@ "obsolete 4-aminobutyrate transaminase activity" "Pfeiffer-Palm-Teller syndrome" "Metabolic disease associated with ocular features" + "level of integrin beta-5 in blood serum" "cystic disease of lung" "Populus euphratica" - "level of integrin beta-5 in blood serum" "Sjogren syndrome" "colipase-like protein 1" "thiazide" @@ -38981,8 +38975,8 @@ "adactylia, unilateral" "JJ012" "level of tumor susceptibility gene 101 protein in blood serum" - "ankyrin repeat domain-containing protein 45" "obsolete_cranial division of the internal carotid artery" + "ankyrin repeat domain-containing protein 45" "spinal cord interneuron" "protein GUCD1" "mineral metabolism disease" @@ -39019,8 +39013,8 @@ "level of probable E3 ubiquitin-protein ligase TRIML1 in blood serum" "obsolete_partial deletion of the long arm of chromosome 7" "Inherited congenital spastic tetraplegia" - "obsolete_Ehlers-Danlos syndrome, kyphoscoliotic and deafness type" "childhood adrenal gland pheochromocytoma" + "obsolete_Ehlers-Danlos syndrome, kyphoscoliotic and deafness type" "administrator" "fetal and adult testis-expressed transcript protein" "corticotropin" @@ -39135,8 +39129,8 @@ "level of 39S ribosomal protein L38, mitochondrial in blood serum" "striatal degeneration, autosomal dominant" "vaginal adenoma" - "Fluidigm C1-based dissociation" "hybrid selection of targets" + "Fluidigm C1-based dissociation" "YCC1" "white matter growth measurement" "HG02840" @@ -39214,8 +39208,8 @@ "male reproductive system neoplasm" "obsolete_geleophysic dysplasia" "level of barttin in blood" - "Sono-Seq" "protein FAM210A" + "Sono-Seq" "ML-DmD11" "Shoulder girdle muscle weakness" "metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome" @@ -39248,8 +39242,8 @@ "triacylglycerol 56:3" "atrial septal defect, ostium primum type" "obsolete_nephrogenic syndrome of inappropriate antidiuresis" - "level of oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial in blood serum" "obsolete_congenital absence of both forearm and hand, unilateral" + "level of oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial in blood serum" "level of NTF2-related export protein 1 in blood serum" "Postaxial hand polydactyly" "multiple symmetric lipomatosis" @@ -39269,8 +39263,8 @@ "Cowden syndrome 5" "vulvar trichoepithelioma" "mg(14:0/0:0/0:0) measurement" - "Ascaridida infectious disease" "basal cell carcinoma, susceptibility to" + "Ascaridida infectious disease" "level of neuronal regeneration-related protein in blood serum" "level of E3 ubiquitin-protein ligase rififylin in blood serum" "thioredoxin domain-containing protein 3" @@ -39278,8 +39272,8 @@ "chemokine-like protein TAFA-3" "obsolete_autosomal dominant rhegmatogenous retinal detachment" "homer protein homolog 3" - "obsolete_autosomal recessive spastic paraplegia type 70" "micropapillary urothelial carcinoma" + "obsolete_autosomal recessive spastic paraplegia type 70" "heptachlor epoxide measurement"@en "level of protein deltex-2 in blood" "dual specificity protein phosphatase 18" @@ -39421,8 +39415,8 @@ "myofibrillar myopathy 5" "Fibrolamellar Carcinoma" "obsolete midline interhemispheric variant of holoprosencephaly" - "umbelliferone sulfate measurement" "disorder of pilosebaceous unit" + "umbelliferone sulfate measurement" "1-methylnicotinamide" "(5Z,7E)-(3S)-26,26,26-trifluoro-27-nor-9,10-seco-5,7,10(19)-cholestatriene-3,25-diol" "E3 ubiquitin-protein ligase RBBP6" @@ -39480,9 +39474,9 @@ "taurocholate measurement"@en "level of DnaJ homolog subfamily C member 21 in blood" "immunodeficiency 14b, autosomal recessive" + "obsolete_distal myopathy, Welander type" "level of biogenesis of lysosome-related organelles complex 1 subunit 1 in blood serum" "dilated cardiomyopathy 1Z" - "obsolete_distal myopathy, Welander type" "1-linoleoyl-GPI (18:2) measurement" "triacylglycerol 54:3 measurement"@en "level of aspartyl aminopeptidase in blood serum" @@ -39568,9 +39562,9 @@ "chemokine (C-C motif) ligand 27 measurement" "multiple inositol polyphosphate phosphatase 1" "level of spectrin beta chain, non-erythrocytic 2 in blood" + "cortisone" "Hermansky-Pudlak syndrome 11" "benign mesothelioma" - "cortisone" "retroperitoneal neoplasm" "crown root" "phosphatidylcholine diacyl C36:0 measurement" @@ -39599,8 +39593,8 @@ "level of CCAAT/enhancer-binding protein gamma in blood serum" "MT10430" "late-onset Parkinson disease" - "ciliary body disorder" "1-palmitoleoyl-GPI (16:1) measurement" + "ciliary body disorder" "HIV-associated nephropathy" "oculocutaneous albinism type 6" "partial duplication of the long arm of chromosome X" @@ -39626,8 +39620,8 @@ "localised scleroderma" "TK22" "level of low-density lipoprotein receptor-related protein 12 in blood serum" - "neurogenic locus notch homolog protein 2 measurement" "nonischemic cardiomyopathy" + "neurogenic locus notch homolog protein 2 measurement" "SARS coronavirus Tor2" "peptidyl-prolyl cis-trans isomerase FKBP14" "MELAS syndrome" @@ -39779,10 +39773,10 @@ "15-methylpalmitate measurement" "3-Indolepropionic acid to S-(5-Adenosy) -L-homocysteine ratio" "obsolete_American" - "familial osteosclerosis" "acetate" "Pericardial constriction" "tooth agenesis, selective, 2" + "familial osteosclerosis" "thoracolaryngopelvic dysplasia" "Pulmonary arterial hypertension associated with congenital heart disease" "distal trisomy 17q" @@ -39846,10 +39840,10 @@ "Autosomal recessive systemic lupus erythematosus" "benign reproductive system neoplasm" "level of perilipin-3 in blood serum" - "blood vanadium measurement"@en "postaxial polydactyly type B" - "pancreatic adenocarcinoma" + "blood vanadium measurement"@en "obsolete_9p13 microdeletion syndrome" + "pancreatic adenocarcinoma" "level of 39S ribosomal protein L52, mitochondrial in blood serum" "cerebellar pilocytic astrocytoma" "DNA shearing" @@ -39865,8 +39859,8 @@ "Microlissencephaly type B" "protein disulfide-isomerase A5" "obsolete_Siegler-Brewer-Carey syndrome" - "tag protein fusion library" "CD81 molecule" + "tag protein fusion library" "pressure unit" "CS57598" "ubiquitin-conjugating enzyme E2 B" @@ -39937,13 +39931,13 @@ "assay by instrument" "serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit alpha" "X-12244--N-acetylcarnosine measurement" - "obsolete_Schnyder corneal dystrophy" "SPARE" + "obsolete_Schnyder corneal dystrophy" "obsolete_benign adult familial myoclonic epilepsy" - "cholesterol to total lipids in very small VLDL percentage " "lateral cord surface glial cell" - "ML-DmD16-c3" + "cholesterol to total lipids in very small VLDL percentage " "Cernunnos-XLF deficiency" + "ML-DmD16-c3" "graft-versus-host disease, susceptibility to" "Vaginal mucosal ulceration" "mg(18:1/0:0/0:0) measurement" @@ -39988,8 +39982,8 @@ "cycloheximide" "Autosomal dominant intermediate Charcot-Marie-Tooth disease type B" "craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome" - "cystatin-S measurement" "arteriovenous hemangioma/malformation" + "cystatin-S measurement" "arthrogryposis-like hand anomaly-sensorineural deafness syndrome" "purine nucleoside phosphorylase measurement" "Bartter syndrome type 4" @@ -40085,8 +40079,8 @@ "level of serine/threonine-protein kinase MRCK alpha in blood serum" "THAP domain-containing protein 2" "drug-induced akathisia" - "medulla oblongata" "level of hepatocyte nuclear factor 1-alpha in blood serum" + "medulla oblongata" "level of probable ATP-dependent RNA helicase DDX6 in blood serum" "Candida glabrata" "vestibulocochlear nerve neoplasm" @@ -40104,12 +40098,12 @@ "neurocristopathy" "mitochondrial complex 4 deficiency, nuclear type 17" "hemoglobin C disease" - "obsolete_pontocerebellar hypoplasia type 8" "Fibrous Hamartoma of Infancy" "epispadias" "tumor necrosis factor receptor superfamily member EDAR measurement" - "1-methylguanidine measurement" + "obsolete_pontocerebellar hypoplasia type 8" "benign paroxysmal tonic upgaze of childhood with ataxia" + "1-methylguanidine measurement" "obsolete_autosomal recessive proximal renal tubular acidosis" "obsolete_constitutional dyserythropoietic anemia" "level of carnitine O-palmitoyltransferase 1, muscle isoform in blood serum" @@ -40128,8 +40122,8 @@ "corm" "pancreatic acinus" "obsolete_hereditary folate malabsorption" - "leucine-rich repeat neuronal protein 1 measurement" "conduction system disorder" + "leucine-rich repeat neuronal protein 1 measurement" "L-phenylalanine metabolic process" "congenital disorder of glycosylation, type iit" "methylcobalamin deficiency type cblDv1" @@ -40155,13 +40149,13 @@ "stamen" "level of phosphomannomutase 2 in blood" "nephrin" - "obsolete_pseudoaminopterin syndrome" "Phodopus sungorus" "response to immunochemotherapy" "platelet-type bleeding disorder 9" "BolA-like protein 2" "CUB and zona pellucida-like domain-containing protein 1 measurement" "GM06994" + "obsolete_pseudoaminopterin syndrome" "generalized epilepsy with febrile seizures plus, type 2" "Drosophila melanogaster" "post-operative delirium" @@ -40210,20 +40204,20 @@ "heat shock factor-binding protein 1" "C6 glioma cell" "renal overload-type gout"@en - "acneiform dermatitis" "recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome" + "acneiform dermatitis" "ulnar nerve lesion" "Aplasia/Hypoplasia of the corpus callosum" "obsolete_autosomal dominant hypocalcemia" - "Primary dystonia, DYT21 type" "nicotinate phosphoribosyltransferase" "OSU-2" "U2OS" "breast carcinoma in situ" "level of kinesin light chain 1 in blood serum" + "Primary dystonia, DYT21 type" + "obsolete_adult-onset citrullinemia type I" "hypochord" "sorting nexin-2" - "obsolete_adult-onset citrullinemia type I" "hyaluronidase-1 measurement" "level of V-set and immunoglobulin domain-containing protein 10-like in blood serum" "refractory anemia with excess blasts" @@ -40341,9 +40335,9 @@ "PDZ domain-containing protein GIPC2" "GM17798" "Sparse hair - short stature - skin anomalies" + "obsolete_3-methylglutaconic aciduria type 4" "Clark level V" "liver fat measurement"@en - "obsolete_3-methylglutaconic aciduria type 4" "leukoplakia" "Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia" "obsolete_gonad" @@ -40353,10 +40347,10 @@ "Prorubricyte Count" "obsolete rare disorder with dystonia and other neurologic or systemic manifestation" "anaphase-promoting complex subunit 7" + "Profiler" "chloride intracellular channel protein 4" "trait in response to sotalol" "anal canal squamous cell carcinoma" - "Profiler" "level of polypeptide N-acetylgalactosaminyltransferase 10 in blood serum" "scoliosis, isolated, susceptibility to, 1" "pregnancy-specific beta-1-glycoprotein 11" @@ -40465,9 +40459,9 @@ "hematopoietic stem cell" "seminal root" "entopterygoid" - "obsolete_multiminicore myopathy" "phakomatosis pigmentokeratotica" "parapsoriasis" + "obsolete_multiminicore myopathy" "chondrodysplasia punctata, tibial-metacarpal type" "X-24418 measurement" "glutathione-specific gamma-glutamylcyclotransferase 1" @@ -40529,12 +40523,12 @@ "protein MTSS 2" "obsolete_dorsal fin musculature" "16-hydroxypalmitate measurement" - "FVB/N"@en - "3-Indolepropionic acid to LysoPC 16:0 ratio" "Disturbed sensory perception" "CD69-positive double-positive thymocyte" - "limb-girdle muscular dystrophy due to POMK deficiency" + "FVB/N"@en + "3-Indolepropionic acid to LysoPC 16:0 ratio" "myotonic dystrophy type 2" + "limb-girdle muscular dystrophy due to POMK deficiency" "level of UDP-glucuronosyltransferase 1-6 in blood serum" "3-Indolepropionic acid to D-2-Aminobutyric acid ratio" "protein-glutamine gamma-glutamyltransferase 4" @@ -40628,9 +40622,9 @@ "obsolete_familial omphalocele syndrome with facial dysmorphism" "T-cell-interacting, activating receptor on myeloid cells protein 1" "persistent oligoarticular juvenile idiopathic arthritis" + "obsolete_syndactyly type 5" "level of OTU domain-containing protein 3 in blood serum" "obsolete_hypoalphalipoproteinemia" - "obsolete_syndactyly type 5" "obsolete_Pyle disease" "obsolete_Asian/Pacific Islander" "obsolete_myotonic syndrome" @@ -40702,9 +40696,9 @@ "language disorder" "partial duplication of the short arm of chromosome 8" "GM25256" - "Rare male infertility due to testicular endocrine disorder" "immunoglobulin E measurement" "Mus musculus musculus x M. m. domesticus" + "Rare male infertility due to testicular endocrine disorder" "Methylmalonic acid measurement" "endolymphatic sac" "obsolete_dysplasia epiphysealis hemimelica" @@ -40781,10 +40775,10 @@ "encounter with health service for breast reconstruction following mastectomy" "hemojuvelin measurement" "lacrimal gland neoplasm" - "quinolinate measurement" "CD59 glycoprotein measurement" - "rapid kidney function decline" + "quinolinate measurement" "YTH domain-containing protein 1" + "rapid kidney function decline" "level of advanced glycosylation end product-specific receptor in blood" "intellectual disability, autosomal dominant 57" "level of superkiller complex protein 2 in blood" @@ -40827,8 +40821,8 @@ "obsolete_distal monosomy 14q" "SLP adapter and CSK-interacting membrane protein" "level of hepatocyte nuclear factor 4-alpha in blood serum" - "Hemoglobin G Coushatta to Total Hemoglobin Ratio Measurement" "obsolete_Saethre-Chotzen syndrome" + "Hemoglobin G Coushatta to Total Hemoglobin Ratio Measurement" "Persea americana" "anti-anoctamin 2 antibody measurement" "BOSC-23 cell" @@ -40844,9 +40838,9 @@ "hemoglobin E disease" "Fibrous Meningioma" "hypercholanemia, familial 1" - "obsolete_autosomal dominant distal renal tubular acidosis" "NL2099" "milli-International Unit per milliliter" + "obsolete_autosomal dominant distal renal tubular acidosis" "level of out at first protein in blood serum" "Mixed Tumor, Mesodermal" "Müllerian duct anomalies - limb anomalies" @@ -40890,8 +40884,8 @@ "autoinflammatory disease, multisystem, with immune dysregulation, X-linked" "porencephaly" "septooptic dysplasia" - "obsolete_osteonecrosis of genetic origin" "obsolete_9q21 microdeletion syndrome" + "obsolete_osteonecrosis of genetic origin" "sum of neutrophil and eosinophil counts" "level of LIM domain-binding protein 2 in blood serum" "obsolete_sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis" @@ -41182,8 +41176,8 @@ "pelvic lipomatosis" "Benign familial neonatal seizures" "DPM3-congenital disorder of glycosylation" - "skull base neoplasm" "Waardenburg syndrome type 1" + "skull base neoplasm" "adult central nervous system teratoma" "GM06990" "ChIPmentation" @@ -41218,6 +41212,7 @@ "obsolete acquired paroxysmal nocturnal hemoglobinuria" "level of lipocalin-1 in blood serum" "level of carbonic anhydrase 5B, mitochondrial in blood serum" + "Spastic paraplegia-optic atrophy-neuropathy syndrome" "beta-1,4-galactosyltransferase 2" "3-hydroxyhippurate measurement" "microtubule-associated proteins 1A/1B light chain 3 beta 2" @@ -41226,11 +41221,10 @@ "Lupus Vasculitis, Central Nervous System" "intellectual disability, autosomal recessive 57" "delta-5 desaturase measurement" - "Spastic paraplegia-optic atrophy-neuropathy syndrome" + "margarate 17:0 measurement" "oculocutaneous albinism type 8" "CD7-positive lymphoid progenitor cell" "Parkinson disease 24, autosomal dominant, susceptibility to" - "margarate 17:0 measurement" "Digital RNA" "CD38-negative naive B cell" "receptor-type tyrosine-protein phosphatase H measurement" @@ -41266,10 +41260,10 @@ "congenital adrenal hyperplasia" "Sandhoff disease, adult form" "Carpenter syndrome" - "obsolete_sirenomelia" "E3 ubiquitin-protein ligase HECW2" - "autosomal recessive humeroradial synostosis" + "obsolete_sirenomelia" "CD9 molecule" + "autosomal recessive humeroradial synostosis" "jejunal neoplasm" "RNA binding protein fox-1 homolog 3" "obsolete_Autosomal dominant neovascular inflammatory vitreoretinopathy" @@ -41303,8 +41297,8 @@ "nerve plexus disease" "trypsin-2 measurement" "level of ADP-ribosylation factor-like protein 1 in blood serum" - "mitral valve prolapse, myxomatous 2" "Colorectal Serrated Adenocarcinoma" + "mitral valve prolapse, myxomatous 2" "proteasome activator complex subunit 3 measurement" "obsolete_open iniencephaly" "immunoglobulin J chain measurement" @@ -41385,12 +41379,12 @@ "melphalan" "obsolete persistent combined dystonia" "annexin A11" + "obsolete_partial duplication of the long arm of chromosome 17" "Genetic renal tubular disease" "ascending colon cancer" "La Crosse virus" - "obsolete_partial duplication of the long arm of chromosome 17" - "melanoma staging" "gap junction delta-2 protein measurement" + "melanoma staging" "cytological, histological or immunological finding" "ubiquitin-conjugating enzyme E2 W" "Rett syndrome" @@ -41401,15 +41395,15 @@ "obsolete colobomatous microphthalmia" "teratocarcinoma-derived growth factor 1 measurement" "OTU domain-containing protein 7B" - "3-hydroxyhexanoylcarnitine (2) measurement" "nexilin" "Flaviviridae infectious disease" + "3-hydroxyhexanoylcarnitine (2) measurement" "Hydrolethalus" "psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome" "level of dipeptidase 2 in blood serum" "shell of nucleus accumbens" - "obsolete partial trisomy of the short arm of chromosome 9" "response to ketamine" + "obsolete partial trisomy of the short arm of chromosome 9" "Oryza sativa" "clindamycin" "Myoinositol measurement" @@ -41596,9 +41590,9 @@ "acrodermatitis" "Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome" "glutathione S-transferase kappa 1" + "Rare hypolipidemia" "His-Leu" "nuclear prelamin A recognition factor" - "Rare hypolipidemia" "level of krueppel-like factor 4 in blood serum" "craniorachischisis" "obsolete_partial chromosome Y deletion" @@ -41633,9 +41627,9 @@ "X-24494 measurement" "obsolete_epibranchial 5" "Hypodontia - dysplasia of nails" + "neuropeptide W measurement" "2-hydroxyisobutyrate" "trait in response to tetracyclic antidepressant" - "neuropeptide W measurement" "kinesin-like protein KIF22" "obsolete_Stargardt disease" "level of mitogen-activated protein kinase kinase kinase kinase 1 in blood serum" @@ -41741,26 +41735,26 @@ "T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency" "Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism" "separation anxiety disorder" - "age related macular degeneration, susceptibility to" "level of magnesium transporter NIPA4 in blood serum" + "age related macular degeneration, susceptibility to" "immunoglobulin mu Fc receptor" "ribonucleoside triphosphate biosynthetic process" "Non-eruption of teeth - maxillary hypoplasia - genu valgum" + "ruminococcaceae seropositivity" "lobar intracerebral hemorrhage"@en "infantile axonal neuropathy" - "ruminococcaceae seropositivity" "pediatric CNS choriocarcinoma" "guided entry of tail-anchored proteins factor CAMLG" "organism status design" "NOD/ShiLt"@en + "X-11315 measurement" "NKGA2-positive natural killer cell, mouse" "BRCA1-associated protein" - "X-11315 measurement" "obsolete_autosomal recessive Robinow syndrome" "level of transformer-2 protein homolog beta in blood serum" - "Phocomelia - ectrodactyly - deafness - sinus arrhythmia" "N-acetyl-L-cysteine" "CS57883" + "Phocomelia - ectrodactyly - deafness - sinus arrhythmia" "Adenosine Diphosphate" "level of procollagen galactosyltransferase 2 in blood serum" "surfeit locus protein 1" @@ -41809,10 +41803,10 @@ "obsolete_Autosomal recessive syndromic optic atrophy" "iron ion homeostasis" "obsolete_Robinow syndrome" - "gamma-aminobutyric acid receptor-associated protein-like 1" + "Familial retinoblastoma" "hydrarthrosis" + "gamma-aminobutyric acid receptor-associated protein-like 1" "bone measurement" - "Familial retinoblastoma" "tax1-binding protein 3 measurement" "3-Indolepropionic acid to Myoinositol ratio" "microtia" @@ -41856,16 +41850,16 @@ "obsolete_myelocystocele" "ABetaL34V amyloidosis" "pemphigus" + "obsolete_X and Y chromosomal anomaly" "lead atom" "coloboma of choroid and retina" - "obsolete_X and Y chromosomal anomaly" "level of GMP reductase 2 in blood serum" "diencephalic cancer" - "diacylglycerol 33:1 measurement" "embryonic central nervous system" "carotid plaque build" "eukaryotic tRNA pseudouridine synthase A" "GM12878" + "diacylglycerol 33:1 measurement" "ChIRP" "1,2-dilinoleoyl-GPC (18:2/18:2) measurement" "bronchiole" @@ -41888,8 +41882,8 @@ "level of interleukin-17 receptor D in blood serum" "level of S-arrestin in blood serum" "obsolete_hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome" - "Autosomal recessive spastic paraplegia type 11" "transcription factor SOX-6" + "Autosomal recessive spastic paraplegia type 11" "hip osteoarthritis symptom severity measurement" "ILSXISS#/Tej" "level of Rab-like protein 6 in blood serum" @@ -41942,9 +41936,9 @@ "level of epididymal-specific lipocalin-10 in blood serum" "hemin" "level of carbonic anhydrase-related protein in blood serum" + "7-methylurate measurement" "Thomsen and Becker disease" "beta-1,4-galactosyltransferase 3" - "7-methylurate measurement" "follistatin-related protein 4 measurement" "common dendritic progenitor" "myristate 14:0 measurement" @@ -41980,11 +41974,11 @@ "transcription regulator protein BACH2 measurement" "metastatic malignant neoplasm" "obsolete_microcephalic primordial dwarfism, Alazami type" + "cardiolipin IgA antibody measurement" "gonococcal prostatitis" "delta and Notch-like epidermal growth factor-related receptor measurement" "obsolete_neural arch" "conjunctival tumor" - "cardiolipin IgA antibody measurement" "branched-chain keto acid dehydrogenase kinase deficiency" "level of Ras-related protein Rab-31 in blood serum" "level of semaphorin-3F in blood serum" @@ -42028,8 +42022,8 @@ "HSC-3" "GM15227" "level of beta-defensin 1 in blood serum" - "chitosan" "tarsal-carpal coalition syndrome" + "chitosan" "Human immunodeficiency virus" "Pierson syndrome" "level of protein argonaute-1 in blood serum" @@ -42057,10 +42051,10 @@ "Zea mays subsp. mays" "NCI-H727" "antidepressant-induced hearing impairment" - "alpha-1,3/1,6-mannosyltransferase ALG2" "obsolete_Ulbright-Hodes syndrome" - "anatomical system" + "alpha-1,3/1,6-mannosyltransferase ALG2" "small cell carcinoma" + "anatomical system" "Sjogren-Larsson syndrome" "ND00022" "aryl hydrocarbon receptor nuclear translocator" @@ -42156,8 +42150,8 @@ "intellectual disability, autosomal recessive 64" "lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome" "vulvar keratinizing squamous cell carcinoma" - "17p13.3 microduplication syndrome" "level of interleukin-33 in blood plasma" + "17p13.3 microduplication syndrome" "level of coiled-coil domain-containing protein 28A in blood" "isocitrate dehydrogenase [NAD] subunit gamma, mitochondrial" "Neu-Laxova syndrome 1" @@ -42175,8 +42169,8 @@ "hypoxia-inducible factor 1-alpha measurement" "flavin adenine dinucleotide (FAD) measurement" "Hereditary cryohydrocytosis with normal stomatin" - "endometrioid stromal sarcoma of the cervix" "hemoglobin change measurement" + "endometrioid stromal sarcoma of the cervix" "level of solute carrier family 12 member 2 in blood" "protein disulfide-isomerase-like protein of the testis" "cervical benign neoplasm" @@ -42195,8 +42189,8 @@ "autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain" "hyperlipidemia" "Abnormal toenail morphology" - "obsolete_Caucasian" "response to nivolumab"@en + "obsolete_Caucasian" "Spinocerebellar ataxia type 42" "phenol sulfate measurement" "hyperargininemia" @@ -42222,10 +42216,10 @@ "caveolin-2" "phosphatidylcholine acyl-alkyl C36:2 measurement" "severe combined immunodeficiency due to CORO1A deficiency" + "palmitoleoyl-arachidonoyl-glycerol (16:1/20:4) [2] measurement" "maternal uniparental disomy of chromosome 4" "obsolete_tepal" "foot and mouth disease" - "palmitoleoyl-arachidonoyl-glycerol (16:1/20:4) [2] measurement" "endophenotype" "lymphoproliferative syndrome 1" "Cryptococcus neoformans" @@ -42281,9 +42275,9 @@ "persistent Staphylococcus aureus carrier status" "level of insulin-like growth factor-binding protein 3 in blood serum" "Gingival fibromatosis - progressive deafness" - "obsolete_Huntington disease-like syndrome due to C9ORF72 expansions" "jejunal neuroendocrine tumor, well differentiated, low or intermediate grade" "coatomer subunit epsilon" + "obsolete_Huntington disease-like syndrome due to C9ORF72 expansions" "obsolete_autosomal recessive Emery-Dreifuss muscular dystrophy" "cytochrome p450 3a4 measurement" "obsolete_polydactyly of a triphalangeal thumb, bilateral" @@ -42329,9 +42323,9 @@ "perhexiline" "obsolete_athyreosis" "obsolete_severe hemophilia A" + "CCRF-HSB-2"@en "level of sushi domain-containing protein 1 in blood serum" "fibroblast growth factor 8" - "CCRF-HSB-2"@en "IgG monosialylation measurement" "B-2 B cell" "preeclampsia severity measurement"@en @@ -42384,8 +42378,8 @@ "level of cyclin-dependent kinase 20 in blood" "transcription profiling by SAGE" "Genital ulcers" - "microphthalmia with brain and digit anomalies" "RELT-like protein 2 measurement" + "microphthalmia with brain and digit anomalies" "overgrowth syndrome" "RBBS" "level of adenylosuccinate synthetase isozyme 1 in blood serum" @@ -42440,11 +42434,11 @@ "level of nuclear factor 1 A-type in blood serum" "dilated cardiomyopathy 2B" "count unit" - "obsolete_dominant beta-thalassemia" "age at death" "SF-188" "paroxetine maleate" "spinocerebellar ataxia type 11" + "obsolete_dominant beta-thalassemia" "specifically androgen-regulated gene protein" "level of fragile X messenger ribonucleoprotein 1 in blood" "tricarboxylic acid cycle" @@ -42482,8 +42476,8 @@ "acquired peripheral neuropathy" "level of vasodilator-stimulated phosphoprotein in blood serum" "Paroxysmal ventricular tachycardia" - "ventral nerve cord primordium" "PC-3" + "ventral nerve cord primordium" "capitellum" "sulfur amino acid metabolic process" "hydroxymethylglutaryl-CoA synthase, mitochondrial measurement" @@ -42547,10 +42541,10 @@ "Hyperleucinemia" "level of guanine nucleotide-binding protein G(i) subunit alpha-1 in blood serum" "clcn4-related disorder" - "obsolete osteochondrosis of genetic origin" "embryonic corpus allatum" - "GM12891" + "obsolete osteochondrosis of genetic origin" "1-stearoyl-2-oleoyl-GPC (18:0/18:1) measurement" + "GM12891" "CIP-TAP" "level of voltage-gated potassium channel KCNF1 in blood serum" "leiomyoma" @@ -42558,8 +42552,8 @@ "cholesteryl esters to total lipids in very large HDL percentage " "level of 39S ribosomal protein L10, mitochondrial in blood serum" "Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome" - "level of regulator of G-protein signaling 19 in blood serum" "obsolete_renal-hepatic-pancreatic dysplasia" + "level of regulator of G-protein signaling 19 in blood serum" "GM1 gangliosidosis type 3" "sebaceous gland" "X-linked agammaglobulinemia" @@ -42590,16 +42584,16 @@ "level of polypeptide N-acetylgalactosaminyltransferase 14 in blood serum" "insulin-like growth factor-binding protein 2 measurement" "obsolete_autosomal dominant vitreoretinochoroidopathy" - "Partial deletion of the short arm of chromosome 4" "multiple congenital anomalies-hypotonia-seizures syndrome" + "Partial deletion of the short arm of chromosome 4" "obsolete_Mowat-Wilson syndrome due to monosomy 2q22" "social anxiety disorder" "serine/threonine-protein kinase LATS1" "46,XX disorder of sex development - anorectal anomalies" "myoclonic epilepsy, juvenile, susceptibility to, 1" + "obsolete_hypokalemic periodic paralysis" "non-lobar intracerebral hemorrhage"@en "salmonella seropositivity" - "obsolete_hypokalemic periodic paralysis" "angiokeratoma of Fordyce" "Jaberi-Elahi syndrome" "KH domain-containing protein 3-like" @@ -42626,8 +42620,8 @@ "obsolete_heart conduction system" "Pachycladon novaezelandiae" "obsolete cellular nitrogen compound biosynthetic process" - "renal colic" "Genetic renal or urinary tract malformation" + "renal colic" "gum cancer" "apoptotic amnioserosa" "hyperinsulinemic hypoglycemia, familial, 4" @@ -42655,10 +42649,10 @@ "Abnormality of the umbilical cord" "proliferative inflammatory atrophy" "Mitochondrial disease with dilated cardiomyopathy" + "obsolete_Bleeding diathesis due to integrin alpha2-beta1 deficiency" "KATOIII" "SCAN domain-containing protein 1" "obsolete_Job's syndrome" - "obsolete_Bleeding diathesis due to integrin alpha2-beta1 deficiency" "paralytic strabismus" "mature NK T cell" "terminal osseous dysplasia-pigmentary defects syndrome" @@ -42735,13 +42729,13 @@ "HBL100" "level of beta-defensin 103 in blood serum" "obsolete_tooth ankylosis" - "protein NOV" "obsolete_ring chromosome 3" + "protein NOV" + "blood 3-hydroxymyristate measurement" "GM10847" "BDCM" "hormone role" "hearing loss, autosomal recessive 110" - "blood 3-hydroxymyristate measurement" "granular cell cancer" "nuclear pore membrane glycoprotein 210-like" "Calcification of muscles" @@ -42761,8 +42755,8 @@ "obsolete_disorder of glutamine metabolism" "complement C1q-like protein 2" "obsolete_Dahlberg-Borer-Newcomer syndrome" - "Dehalococcoides sp. VS" "cholesteryl ester 18:0 measurement"@en + "Dehalococcoides sp. VS" "obsolete_Larsen-like syndrome, B3GAT3 type" "congenital hemangioma" "serine--tRNA ligase, mitochondrial measurement" @@ -42786,8 +42780,8 @@ "psoriasis 2" "obsolete non-syndromic respiratory or mediastinal malformation" "trochlear nerve" - "3-Indolepropionic acid to Pipecolinic acid ratio" "Spinocerebellar ataxia type 41" + "3-Indolepropionic acid to Pipecolinic acid ratio" "xanthurenate measurement"@en "obsolete non-syndromic terminal limb defects" "Stimmler syndrome" @@ -42802,8 +42796,8 @@ "level of calcium-binding protein 39 in blood serum" "Carney complex, type 1" "familial long QT syndrome" - "eye swelling" "ocular albinism with late-onset sensorineural deafness" + "eye swelling" "streptococcal pneumonia" "response to beta blocker" "rheumatic pulmonary valve disease" @@ -42897,8 +42891,8 @@ "BMP-binding endothelial regulator protein measurement" "Childhood onset" "obsolete autosomal recessive lymphoproliferative disease" - "nicotinamide measurement" "epidermolysis bullosa simplex" + "nicotinamide measurement" "EC 3.1.1.8 (cholinesterase) inhibitor" "immune system" "N-acylethanolamine measurement" @@ -42994,13 +42988,13 @@ "level of dixin in blood serum" "mediator of RNA polymerase II transcription subunit 21" "Rare genetic headache" - "obsolete_Proteus syndrome" "cholesteryl icosatrienoate" + "obsolete_Proteus syndrome" "obsolete_clinical history age" "arsenite methyltransferase" "RARseq" - "Reunion island Larsen syndrome" "hydroxypalmitoyl sphingomyelin (d18:1/16:0(OH)) measurement" + "Reunion island Larsen syndrome" "brachyphalangy, polydactyly, and tibial aplasia/hypoplasia" "brain connectivity measurement" "obsolete_sacrum" @@ -43041,9 +43035,9 @@ "Postpericardiotomy Syndrome" "level of Ras-related protein Rab-43 in blood serum" "undecanoate 11:0 measurement" - "Abnormal nasopharyngeal adenoid morphology" - "fibroblast growth factor receptor 4 measurement" "N-acetylglutamine measurement" + "fibroblast growth factor receptor 4 measurement" + "Abnormal nasopharyngeal adenoid morphology" "AG14446" "other organism part" "Ewing sarcoma/peripheral primitive neuroectodermal tumor" @@ -43066,8 +43060,8 @@ "polyp of vulva" "chronic tympanitis" "obsolete_10q22.3q23.3 microdeletion syndrome" - "uvea neoplasm" "46,XY disorder of sex development of gynecological interest" + "uvea neoplasm" "Hemoglobin Tetramer Measurement" "urinary arsenic measurement" "Diets-Jongmans syndrome" @@ -43097,8 +43091,8 @@ "adenohypophysis" "phosphatidylcholine 38:4" "Klippel-Trénaunay syndrome" - "acute myeloid leukemia, inv(16)(p13.1;q22)" "rap1 GTPase-activating protein 1 measurement" + "acute myeloid leukemia, inv(16)(p13.1;q22)" "mIMCD-3" "level of U11/U12 small nuclear ribonucleoprotein 25 kDa protein in blood serum" "minor salivary gland" @@ -43227,8 +43221,8 @@ "phenyl hydrogen sulfate" "testosterone" "congenital pulmonary lymphangiectasia" - "papillary cystadenoma" "Dental malocclusion" + "papillary cystadenoma" "single Ig IL-1-related receptor" "non-renal secondary hyperparathyroidism" "(1->3)-beta-D-glucan" @@ -43257,8 +43251,8 @@ "Oligomenorrhea" "obsolete_radial hemimelia" "GM14507" - "vertebra" "Aminoacylase 1 deficiency" + "vertebra" "level of microfibrillar-associated protein 5 in blood serum" "level of interleukin-1 family member 10 in blood serum" "cataract 13 with adult I phenotype" @@ -43311,14 +43305,14 @@ "Phenylpyruvic acid measurement" "specific phobia" "cataract-hypertrichosis-intellectual disability syndrome" - "obsolete_hyperkalemic periodic paralysis" "bacterial meningitis" + "obsolete_hyperkalemic periodic paralysis" "Leber hereditary optic neuropathy, autosomal recessive" "obsolete developmental delay, intellectual disability, obesity, and dysmorphic features" "species design" "2,3-dihydroxyisovalerate measurement" - "four-jointed box protein 1 measurement" "torticollis-keloids-cryptorchidism-renal dysplasia syndrome" + "four-jointed box protein 1 measurement" "Danio rerio larval stage" "D-2-hydroxyglutaric aciduria" "CS57886" @@ -43337,11 +43331,11 @@ "M059J" "obsolete_familial cutaneous collagenoma" "level of urotensin-2 receptor in blood serum" - "Malignant Peripheral Nerve Sheath Tumor with Mesenchymal Differentiation" "juvenile nephropathic cystinosis" + "Malignant Peripheral Nerve Sheath Tumor with Mesenchymal Differentiation" "desmocollin-2 measurement" - "gonococcal urethritis" "triacylglycerol 58:9" + "gonococcal urethritis" "obsolete_mitochondrial neurogastrointestinal encephalomyopathy" "Thickened skin" "level of synaptic vesicle membrane protein VAT-1 in blood serum" @@ -43361,10 +43355,10 @@ "disopyramide" "distal trisomy 7p" "J.CaM2.5"@en - "tensin-2 measurement" "bone quantitative ultrasound measurement" - "GM17258" "neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome" + "GM17258" + "tensin-2 measurement" "Philippines"@en "Philippines" "level of coiled-coil and C2 domain-containing protein 1A in blood" @@ -43380,8 +43374,8 @@ "1-stearoyl-2-oleoyl-GPS (18:0/18:1) measurement" "C34:2 phosphatidylethanolamine plasmalogen measurement" "5-dodecenoylcarnitine (C12:1) measurement" - "triacylglycerol 56:10 measurement"@en "Wistar-Kyoto" + "triacylglycerol 56:10 measurement"@en "serum non-albumin protein measurement" "autosomal dominant nonsyndromic hearing loss 17" "cerebellin-1" @@ -43398,14 +43392,14 @@ "obsolete_hereditary sensory and autonomic neuropathy with deafness and global delay" "ABeta amyloidosis, Italian type" "forkhead box protein P4" - "coloboma of iris" "protein FAM118B" + "coloboma of iris" "obsolete paroxysmal nonkinesigenic dyskinesia 1" "PS(O-20:0/22:6(4Z,7Z,10Z,13Z,16Z,19Z))" "level of orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 in blood serum" "array data file" - "regulator of G-protein signaling 19 measurement" "adult central nervous system immature teratoma" + "regulator of G-protein signaling 19 measurement" "GM12892" "mesophyll cell" "Circle-Seq" @@ -43492,13 +43486,13 @@ "obsolete adactyly of hand" "acrofacial dysostosis, Kennedy-Teebi type" "obsolete_cylindrical spirals myopathy" - "Microcephalic primordial dwarfism, Dauber type" "primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency" "intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism" "obsolete_SKNAS" "level of protein S100-A16 in blood" "hemolytic anemia" "dorsal root ganglia homeobox protein measurement" + "Microcephalic primordial dwarfism, Dauber type" "Singleton-Merten syndrome 1" "Bilateral conductive hearing impairment" "hereditary dementia" @@ -43525,8 +43519,8 @@ "anauxetic dysplasia 3" "stromal cell of lamina propria of large intestine" "survival of motor neuron-related-splicing factor 30" - "KG1" "bombesin receptor-activated protein C6orf89 measurement" + "KG1" "coronary artery bypass" "body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency" "paraplegia" @@ -43589,11 +43583,11 @@ "MAGUK p55 subfamily member 7" "transmembrane protein 132D measurement" "obsolete idiopathic and/or familial pulmonary arterial hypertension" - "15q11.2 microdeletion syndrome" "level of tryptophan--tRNA ligase, mitochondrial in blood serum" "carotid artery occlusion" - "tooth disease" + "15q11.2 microdeletion syndrome" "U3118MG" + "tooth disease" "obsolete rare female infertility due to adrenal disorder of genetic origin" "Blau syndrome" "Fanconi anemia complementation group I" @@ -43623,8 +43617,8 @@ "AP-4 complex accessory subunit Tepsin" "intraepithelial lymphocyte" "1-oleoyl-2-linoleoyl-sn-glycerol" - "late cleavage stage embryo Ce" "C36:2 phosphatidylserine plasmalogen measurement" + "late cleavage stage embryo Ce" "Eyebrow/eyelashes pigmentation anomaly" "probable E3 ubiquitin-protein ligase HERC4" "level of T cell immunoreceptor with Ig and ITIM domains in blood" @@ -43662,8 +43656,8 @@ "sphingomyeline C26:0 measurement" "ring chromosome 1" "Genetic renal tumor" - "Cleidocranial dysplasia and isolated cranial ossification defect" "BNP measurement" + "Cleidocranial dysplasia and isolated cranial ossification defect" "eugenol" "X-linked intellectual disability, Schimke type" "BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 3" @@ -43838,8 +43832,8 @@ "abnormal mineralization disorder" "obsolete_McLeod neuroacanthocytosis syndrome" "positive regulation of heart contraction" - "protein phosphatase 1 regulatory subunit 42" "calcipressin-3" + "protein phosphatase 1 regulatory subunit 42" "Larsen syndrome" "Montastraea faveolata" "level of U1 small nuclear ribonucleoprotein A in blood serum" @@ -43903,9 +43897,9 @@ "obsolete_mitral valve" "myoclonus, familial" "level of Ras-related protein Rab-4A in blood serum" - "Autosomal dominant Charcot-Marie-Tooth disease type 2N" "prostaglandins measurement" "very low density lipoprotein cholesterol measurement" + "Autosomal dominant Charcot-Marie-Tooth disease type 2N" "N-acetyltryptophan measurement" "thymus atrophy" "Calcium oxalate nephrolithiasis" @@ -43988,11 +43982,11 @@ "protein deglycosylation" "congenital nemaline myopathy" "carotid artery dissection" - "level of histone-lysine N-methyltransferase ASH1L in blood serum" "obsolete_Revesz syndrome" + "level of histone-lysine N-methyltransferase ASH1L in blood serum" + "obsolete_KBG syndrome" "tyrosine kinase inhibitor" "Pipecolinic acid measurement" - "obsolete_KBG syndrome" "integrin beta-2" "obsolete_non-syndromic gastroduodenal malformation" "Spinal cord injury" @@ -44033,8 +44027,8 @@ "Bacteroides infectious disease" "obsolete_bladder" "level of protein MTSS 2 in blood serum" - "level of sushi, nidogen and EGF-like domain-containing protein 1 in blood" "muscle measurement" + "level of sushi, nidogen and EGF-like domain-containing protein 1 in blood" "mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency" "GM17255" "larval protruding mouth" @@ -44067,8 +44061,8 @@ "level of synaptic vesicle membrane protein VAT-1-like in blood serum" "neuregulin-1 measurement" "ubiquitin carboxyl-terminal hydrolase isozyme L5" - "level of phosphatidylcholine in blood serum" "protein TMEPAI" + "level of phosphatidylcholine in blood serum" "developmental and epileptic encephalopathy" "alveolar capillary dysplasia with misalignment of pulmonary veins" "obsolete_Atrioventricular defect - blepharophimosis -radial defects" @@ -44099,17 +44093,17 @@ "8505C" "level of B-cell CLL/lymphoma 7 protein family member A in blood" "benign synovial neoplasm" + "Antisynthetase syndrome" "immunodeficiency 106, susceptibility to viral infections" "Gasterosteus aculeatus" - "Antisynthetase syndrome" "2-butenoylglycine measurement" + "triacylglycerol 56:2 measurement"@en "partial trisomy/tetrasomy of chromosome 18" "Syracuse High Avoidance" - "triacylglycerol 56:2 measurement"@en "brain serotonin transporter measurement" + "level of interleukin-1 family member 5 in blood serum" "penile sarcoma" "cerebellin-2" - "level of interleukin-1 family member 5 in blood serum" "DNA-binding protein inhibitor ID-1 measurement" "splenic abscess" "chymotrypsin-like protease CTRL-1" @@ -44120,8 +44114,8 @@ "level of beta-defensin 106 in blood serum" "Kleefstra syndrome due to a point mutation" "blood 2,3-dihydroxypyridine measurement" - "level of serine/threonine-protein kinase LATS1 in blood" "childhood central nervous system immature teratoma" + "level of serine/threonine-protein kinase LATS1 in blood" "endothelin-converting enzyme-like 1" "obsolete_trisomy 5p" "montelukast" @@ -44132,9 +44126,9 @@ "hypotaurine measurement"@en "CXCL12 measurement" "phenothiazine antipsychotic drug" - "regulator of G-protein signaling 8 measurement" "GM18507" "bronchus carcinoma in situ" + "regulator of G-protein signaling 8 measurement" "level of beta-enolase in blood serum" "level of voltage-gated potassium channel subunit KCNA10 in blood serum" "hemorrhagic fever with renal syndrome" @@ -44205,9 +44199,9 @@ "obsolete_microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome" "inorganic pyrophosphatase 2, mitochondrial" "obsolete_SKNDZ" - "transcriptional enhancer factor TEF-5 measurement" "double-stranded RNA-binding protein Staufen homolog 1 measurement" "GM08930" + "transcriptional enhancer factor TEF-5 measurement" "obsolete_Alagille syndrome due to 20p12 microdeletion" "enoyl-CoA hydratase domain-containing protein 3, mitochondrial" "lymphatic malformation 8" @@ -44312,8 +44306,8 @@ "parasitic endophthalmitis" "cardiac granular cell neoplasm" "Beta blocking agent use measurement" - "autosomal recessive distal spinal muscular atrophy 1" "level of ornithine transcarbamylase, mitochondrial in blood serum" + "autosomal recessive distal spinal muscular atrophy 1" "sodium- and chloride-dependent neutral and basic amino acid transporter B(0+)" "level of MHC class II histocompatibility antigen alpha chain DRA in blood" "uterine leiomyosarcoma" @@ -44334,8 +44328,8 @@ "SVEC4-10" "Nilaparvata lugens" "factor VIII measurement" - "level of pyruvate kinase PKLR in blood serum" "1-palmitoleoylglycerol (16:1) measurement" + "level of pyruvate kinase PKLR in blood serum" "cocaine use measurement"@en "level of diacylglycerol kinase alpha in blood" "Stillbirth" @@ -44370,10 +44364,10 @@ "atmosphere unit" "Syndromic diarrhea" "obsolete_Fraser syndrome" + "Acromelic frontonasal dysplasia" "asymptomatic myeloma" "N6-Acetyl-L-lysine measurement" "rib" - "Acromelic frontonasal dysplasia" "Lassa fever" "BAFopathy" "spastic paraplegia-Paget disease of bone syndrome" @@ -44409,8 +44403,8 @@ "inactive ribonuclease-like protein 10 measurement" "renal medulla" "obsolete_spondyloepiphyseal dysplasia tarda" - "13(S)-HODE" "Prosthesis-Related Infections" + "13(S)-HODE" "level of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase 1 in blood serum" "obsolete_accelerated neurological senescence" "level of polycomb protein SCMH1 in blood serum" @@ -44436,13 +44430,13 @@ "polyp of rectum" "obsolete_phosphoenolpyruvate carboxykinase deficiency" "small intestine diverticulitis" - "DnaJ homolog subfamily C member 18 measurement" "vulvar eccrine adenocarcinoma" + "DnaJ homolog subfamily C member 18 measurement" "bone morphogenetic protein 10 measurement" - "protein binding measurement"@en "Oxyhemoglobin to Total Hemoglobin Ratio Measurement" "level of interleukin-28 receptor alpha chain in blood serum" "obsolete_avelline corneal dystrophy" + "protein binding measurement"@en "junctional epidermolysis bullosa" "skin meningioma" "Long Evans"@en @@ -44459,17 +44453,17 @@ "time" "RING1 and YY1-binding protein" "obsolete ring chromosome" - "level of protein ATP1B4 in blood serum" "gastrulating embryo Ce" + "level of protein ATP1B4 in blood serum" "partial deletion of chromosome 9" "beta-defensin 1" "cystic, mucinous, and serous neoplasm" "level of a disintegrin and metalloproteinase with thrombospondin motifs 8 in blood" "obsolete_pontocerebellar hypoplasia type 3" "fibroblast growth factor 23 measurement" + "Plasmodium vivax malaria" "spindle cell intraocular melanoma" "X-linked endothelial corneal dystrophy" - "Plasmodium vivax malaria" "level of ezrin in blood serum" "level of glycolipid transfer protein domain-containing protein 2 in blood serum" "pyrenocyte" @@ -44555,13 +44549,13 @@ "interleukin-23 receptor" "age of onset of disease" "ZR751" - "Soft Tissue Chondroma" "level of ankyrin repeat domain-containing protein 1 in blood serum" + "Soft Tissue Chondroma" "Ehlers-Danlos syndrome, vascular-like type" "clinical treatment protocol" "peroxisome proliferator-activated receptor gamma" - "cardia of stomach" "forced expiratory volume" + "cardia of stomach" "soft tissue amyloid neoplasm" "interventricular septum" "A 77003 measurement" @@ -44607,13 +44601,13 @@ "obsolete_Roberstonian translocation" "disseminated superficial actinic porokeratosis" "obsolete_ophthalmomandibulomelic dysplasia" + "1-oleoylglycerol 1-monoolein measurement" "level of Ras-related protein Rab-4B in blood serum" "nucleoside diphosphate kinase 7" - "1-oleoylglycerol 1-monoolein measurement" "family history of prostate cancer" "focal adhesion kinase 1 measurement" - "phosphatidylcholine 18:1 measurement" "level of RNA-binding protein 41 in blood serum" + "phosphatidylcholine 18:1 measurement" "abnormal lipolysis" "DF5018" "cAMP-dependent protein kinase catalytic subunit alpha measurement" @@ -44634,8 +44628,8 @@ "gdnf family receptor alpha-3 measurement" "level of endoplasmic reticulum transmembrane helix translocase in blood serum" "Oreochromis niloticus" - "dead" "level of single-pass membrane and coiled-coil domain-containing protein 1 in blood serum" + "dead" "Azoospermia" "obsolete_de Barsy syndrome" "14(15)-EET measurement" @@ -44667,10 +44661,10 @@ "Retinal degeneration - nanophthalmos - glaucoma" "obsolete_X-linked intellectual disability, Porteous type" "sia-alpha-2,3-Gal-beta-1,4-GlcNAc-R:alpha 2,8-sialyltransferase measurement" + "obsolete_Kenny-Caffey syndrome" "sample dissociation" "obsolete_heart tube" "bacterial myocarditis" - "obsolete_Kenny-Caffey syndrome" "ribonuclease pancreatic measurement" "azoospermia, obstructive, with nephrolithiasis" "asbestos-related lung carcinoma" @@ -44769,10 +44763,10 @@ "obsolete_inherited arrhythmia" "obsolete_glycogen storage disease due to acid maltase deficiency, infantile onset" "obsolete_bilateral multicystic dysplastic kidney" - "Thrombocytopenia - Robin sequence" "bone fracture related measurement" "congenital bile acid synthesis defect 5" "GM17256" + "Thrombocytopenia - Robin sequence" "testican-3 measurement" "primary optic atrophy" "proenkephalin-B" @@ -44785,8 +44779,8 @@ "600MPE" "obsolete_isolated focal cortical dysplasia type Ia" "1,2-dipalmitoyl-GPC (16:0/16:0) measurement" - "integumental system" "gamma-glutamylleucine measurement" + "integumental system" "red color blindness" "(S)-azetidine-2-carboxylic acid" "Syracuse Low Avoidance" @@ -44794,8 +44788,8 @@ "UV light regimen" "inhibitor of nuclear factor kappa-B kinase subunit beta" "ankylosing spondylitis disease activity score"@en - "sphingomyelin (d18:2/21:0, d16:2/23:0) measurement" "NCI-H1693" + "sphingomyelin (d18:2/21:0, d16:2/23:0) measurement" "polyamine-modulated factor 1" "complement C1r subcomponent-like protein" "inhalation anaesthetic" @@ -44833,8 +44827,8 @@ "Autosomal recessive Charcot Marie Tooth disease type 2X" "partial duplication of chromosome 19" "21q22.13q22.2 microdeletion syndrome" - "glans penis cancer" "GTPase kras measurement" + "glans penis cancer" "level of interleukin-1 family member 9 in blood serum" "citrulline" "hematopoietic and lymphoid system neoplasm" @@ -44910,8 +44904,8 @@ "clostridium difficile infection" "testis-specific basic protein Y 1 measurement" "IgD-negative CD38-positive IgG memory B cell" - "obsolete_neutrophil immunodeficiency syndrome" "Yellow fever virus" + "obsolete_neutrophil immunodeficiency syndrome" "zinc finger protein 843 measurement" "malignant teratoma of testis" "Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy" @@ -45004,11 +44998,11 @@ "level of aldehyde dehydrogenase X, mitochondrial in blood serum" "DDT metabolite measurement" "obsolete_Upington disease" + "Progressive supranuclear palsy - progressive non fluent aphasia" "Smith-Lemli-Opitz syndrome" "urothelial carcinoma" "jejunal adenocarcinoma" "protein disulfide isomerase CRELD2" - "Progressive supranuclear palsy - progressive non fluent aphasia" "Elevated erythrocyte sedimentation rate" "level of loss of heterozygosity 11 chromosomal region 2 gene A protein in blood" "respiratory system" @@ -45035,8 +45029,8 @@ "thoracic-to-hip circumference ratio measurement" "level of band 3 anion transport protein in blood" "level of CD99 molecule-like protein 2 in blood serum" - "leucine-rich repeat and fibronectin type-III domain-containing protein 5" "level of methionine--tRNA ligase, cytoplasmic in blood" + "leucine-rich repeat and fibronectin type-III domain-containing protein 5" "DNA primase small subunit" "benign insulitis" "Legg-Calve-Perthes disease" @@ -45163,8 +45157,8 @@ "DnaJ homolog subfamily C member 27 measurement" "gap junction alpha-1 protein" "intellectual disability-hypotonia-skin hyperpigmentation syndrome" - "vulvar leiomyosarcoma" "Bacteroides" + "vulvar leiomyosarcoma" "carbonic anhydrase-related protein" "level of DNA-binding protein SATB1 in blood serum" "Photophobia" @@ -45204,8 +45198,8 @@ "ribose-5-P isomerase deficiency" "keratitis" "barcoded plate-based single cell RNA-seq" - "level of corticotropin-releasing factor receptor 1 in blood" "resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta" + "level of corticotropin-releasing factor receptor 1 in blood" "BY4741" "lysyl oxidase homolog 2" "Ballard syndrome" @@ -45217,8 +45211,8 @@ "level of dihydrolipoyl dehydrogenase, mitochondrial in blood serum" "Chorioretinal scar" "intestinal polyposis syndrome" - "shadow of prion protein" "level of ankyrin repeat domain-containing protein 2 in blood serum" + "shadow of prion protein" "spondylometaphyseal dysplasia, Sedaghatian type" "lethal congenital contracture syndrome 2" "penis basal cell carcinoma" @@ -45235,9 +45229,9 @@ "ACTL6A-related BAFopathy" "pancreatic agenesis 2" "4-methylcatechol sulfate measurement" - "procollagen C-endopeptidase enhancer 1 measurement" "COLO357" "level of epsin-1 in blood" + "procollagen C-endopeptidase enhancer 1 measurement" "selenoprotein M" "Zellweger syndrome" "malignant epithelioid mesothelioma" @@ -45370,33 +45364,33 @@ "Premature rupture of membranes" "Progeroid syndrome, Petty type" "level of RISC-loading complex subunit TARBP2 in blood serum" + "Mucocutaneous venous malformations" "autoinflammation with pulmonary and cutaneous vasculitis" "Pear-shaped vertebrae" - "Mucocutaneous venous malformations" "GM14569" - "Escherichia coli B str. REL606" "Neisseriaceae Infections" + "Escherichia coli B str. REL606" "DNA methylation"@en + "level of xylosyltransferase 2 in blood serum" "17q11.2 microduplication syndrome" "sclera" - "level of xylosyltransferase 2 in blood serum" "Wolf-Hirschhorn syndrome" "vitronectin measurement" "tail" "microgametophyte vegetative cell" "hereditary nephritis" "X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration" - "NCI-H1568" "trichodermodysplasia-dental alterations syndrome" "level of N(1),N(12)-diacetylspermine in blood" + "NCI-H1568" "regulator of chromosome condensation" "Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome" "microphthalmia, isolated, with cataract" "level of matrix metalloproteinase-20 in blood serum" + "obsolete_X-linked myopathy with excessive autophagy" "breast milk measurement" "familial polycythemia" "obsolete_autosomal dominant keratitis" - "obsolete_X-linked myopathy with excessive autophagy" "COLO320DM" "BMI-adjusted hip circumference" "benign neoplasm of salivary gland" @@ -45471,11 +45465,11 @@ "mental health" "normal mucosa of esophagus-specific gene 1 protein" "Coloboma of macula - brachydactyly type B" - "X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism" "level of RNA binding protein fox-1 homolog 2 in blood serum" "acrocapitofemoral dysplasia" "Colon Neuroendocrine Tumor G1" "decreased bone mass" + "X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism" "congenital disorder of deglycosylation" "A549" "progesterone-induced-blocking factor 1 (human)" @@ -45522,8 +45516,8 @@ "intermediate density lipoprotein change measurement" "synaptotagmin-17" "alpha-galactosidase A" - "obsolete_autosomal recessive Kenny-Caffey syndrome" "level of C-type lectin domain family 4 member G in blood" + "obsolete_autosomal recessive Kenny-Caffey syndrome" "hereditary optic atrophy" "immature platelet fraction" "spermatogenic failure 74" @@ -45589,9 +45583,9 @@ "necrosis of pituitary" "complicated appendicitis"@en "WD repeat-containing protein 18" - "obsolete_hereditary spastic paraplegia" "exome sequencing" "oculoauricular syndrome" + "obsolete_hereditary spastic paraplegia" "level of N-lysine methyltransferase SMYD2 in blood serum" "1-(1-enyl-palmitoyl)-GPC (P-16:0) measurement" "disease state design" @@ -45672,10 +45666,10 @@ "moderate multiminicore disease with hand involvement" "hexokinase-1 measurement" "nucleotide sequence size"@en - "gamma-glutamylmethionine measurement" "mitochondrial complex 2 deficiency, nuclear type 4" "hexaploid" "level of ceramide-1-phosphate transfer protein in blood serum" + "gamma-glutamylmethionine measurement" "laterality measurement" "uterine fibroid" "hypertrophic cardiomyopathy 12" @@ -45693,10 +45687,10 @@ "liver CD103-negative dendritic cell" "relaxation of vascular associated smooth muscle" "radiation unit" + "obsolete_Blount disease" "obsolete_partial duplication of the long arm of chromosome 6" "ubiquitin-conjugating enzyme E2 Q1" "level of slit homolog 1 protein in blood serum" - "obsolete_Blount disease" "transient neonatal diabetes mellitus" "obsolete_multiple endocrine neoplasia type 1" "obsolete_combined pancreatic lipase-colipase deficiency" @@ -45734,8 +45728,8 @@ "11-HETE" "hyperphosphatasia-intellectual disability syndrome" "melanin measurement"@en - "Abnormally lax or hyperextensible skin" "cuneus cortex volume measurement"@en + "Abnormally lax or hyperextensible skin" "obsolete_primary CD59 deficiency" "regulatory factor X-associated protein measurement" "obsolete_Filippi syndrome" @@ -45758,10 +45752,10 @@ "level of aldehyde dehydrogenase, mitochondrial in blood serum" "autosomal dominant compelling helio-ophthalmic outburst syndrome" "central nervous system cancer" - "kynurenine measurement" "obsolete_Hereditary thrombophilia due to congenital antithrombin deficiency" - "warm/hot air temperature regimen" + "kynurenine measurement" "nevus count" + "warm/hot air temperature regimen" "cAMP-responsive element modulator" "Cataract with Y-shaped suture opacities" "cortisol measurement" @@ -45801,8 +45795,8 @@ "obsolete_Amelogenesis imperfecta - nephrocalcinosis" "tooth hard tissue disease" "obsolete_Oculofaciocardiodental syndrome" - "microfibrillar-associated protein 1 measurement" "SNU-638" + "microfibrillar-associated protein 1 measurement" "SQ-5" "Johanson-Blizzard syndrome" "malignant carotid body paraganglioma" @@ -45854,8 +45848,8 @@ "functioning gonadotropic adenoma" "Crohn's colitis" "Autosomal dominant methemoglobinemia" - "obsolete_progressive pseudorheumatoid arthropathy of childhood" "beta-defensin 135" + "obsolete_progressive pseudorheumatoid arthropathy of childhood" "level of inhibin alpha chain in blood serum" "level of huntingtin-interacting protein 1-related protein in blood serum" "Abnormality of the outer ear" @@ -45915,8 +45909,8 @@ "obsolete_congenital elbow dislocation" "cardiac germ cell tumor" "nitrogen atom" - "cataracts, hearing impairment, nephrotic syndrome, and enterocolitis" "Microtia - eye coloboma - imperforation of the nasolacrimal duct" + "cataracts, hearing impairment, nephrotic syndrome, and enterocolitis" "C-C motif chemokine 21 measurement" "trabecular meshwork" "level of thrombospondin type-1 domain-containing protein 1 in blood serum" @@ -46053,8 +46047,8 @@ "breast size" "testis size"@en "Testicular atrophy" - "obsolete_autosomal dominant prognathism" "level of DNA-binding protein SATB2 in blood serum" + "obsolete_autosomal dominant prognathism" "epithelium of nasopharynx" "hypersensitivity" "level of NHL repeat-containing protein 2 in blood serum" @@ -46066,11 +46060,11 @@ "partial deletion of chromosome 11" "Cold-induced sweating syndrome-hyperthermia spectrum" "Coarse hair" - "Appendix Villous Adenoma" "oligohydramnios" "uterine cancer" "FRAS1-related extracellular matrix protein 2" "beta-defensin 127" + "Appendix Villous Adenoma" "microgram per milliliter" "neuropathy with hearing impairment" "level of ADAMTS-like protein 5 in blood" @@ -46099,7 +46093,6 @@ "BAG family molecular chaperone regulator 3" "Shoulder and thorax deformity - congenital heart disease" "reverse transcribed polymerase chain reaction" - "reverse transcription PCR" "Hydrops fetalis" "trachea mucoepidermoid carcinoma" "regulation of glucagon secretion" @@ -46119,8 +46112,8 @@ "procollagen C-endopeptidase enhancer 2 measurement" "Genetic chronic primary adrenal insufficiency" "osteoarthritis susceptibility 2" - "obsolete_mandibuloacral dysplasia with type B lipodystrophy" "NCI-H2081" + "obsolete_mandibuloacral dysplasia with type B lipodystrophy" "nucleated reticulocyte" "familial amyloid neuropathy" "N-acetylleucine measurement" @@ -46204,8 +46197,8 @@ "obsolete brain calcification, Rajab type" "Ophthalmoplegia - intellectual disability - lingua scrotalis" "N-myc-interactor" - "GM15221" "protocadherin alpha-4" + "GM15221" "BRCA2 mutation carier statu" "PP interval" "Genetic pancreatic disease" @@ -46215,8 +46208,8 @@ "renal pelvis carcinoma" "quadriceps femoris" "American College of Rheumatology Improvement Criteria"@en - "level of 28 kDa heat- and acid-stable phosphoprotein in blood serum" "NCI-H1781" + "level of 28 kDa heat- and acid-stable phosphoprotein in blood serum" "uridine-cytidine kinase 2" "X-linked intellectual disability-precocious puberty-obesity syndrome" "immunodeficiency 84" @@ -46271,8 +46264,8 @@ "COLO320HSR" "3-hydroxyhippurate sulfate measurement" "Bartholin gland neoplasm" - "hereditary gingival fibromatosis" "1-(1-enyl-oleoyl)-GPC (P-18:1) measurement" + "hereditary gingival fibromatosis" "2-Hydroxybutanoic acid measurement" "OVTOKO" "autosomal dominant nonsyndromic hearing loss" @@ -46282,9 +46275,9 @@ "level of dynamin-3 in blood" "Bayreuth ecotype" "level of integrin alpha-L in blood serum" + "obsolete_isolated focal cortical dysplasia type IIa" "level of 39S ribosomal protein L28, mitochondrial in blood serum" "carbohydrate sulfotransferase 6 measurement" - "obsolete_isolated focal cortical dysplasia type IIa" "estradiol 17-beta-dehydrogenase 2 measurement" "Bordetella pertussis" "rhombomere 5 floor plate" @@ -46370,8 +46363,8 @@ "Hs 852.T" "conjunctival cancer" "ATPase inhibitor, mitochondrial" - "peroxiredoxin-like 2A" "obsolete_presumptive rhombomere 8" + "peroxiredoxin-like 2A" "HG03135" "nucellus" "lymphedema-cerebral arteriovenous anomaly syndrome" @@ -46382,8 +46375,8 @@ "obsolete_Charcot-Marie-Tooth disease type 4D" "cell division cycle protein 27" "KK-47"@en - "Charcot-Marie-Tooth disease axonal type 2U" "creatinine measurement" + "Charcot-Marie-Tooth disease axonal type 2U" "acute megakaryoblastic leukemia in down syndrome" "level of aminopeptidase N in blood" "neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities" @@ -46427,10 +46420,10 @@ "obsolete_distal trisomy 6p" "Cachexia" "severe X-linked mitochondrial encephalomyopathy" + "obsolete_familial osteodysplasia, Anderson type" "hypertensive disorder" "ubiquitin-conjugating enzyme E2 Q2" "level of slit homolog 2 protein in blood serum" - "obsolete_familial osteodysplasia, Anderson type" "Fusarium sporotrichioides" "variant ABeta2M amyloidosis" "obsolete_multiple endocrine neoplasia type 2" @@ -46497,8 +46490,8 @@ "spinal meningioma" "obsolete_cerebellum" "urethral urothelial papilloma" - "blastula 128-cell" "obsolete_Coppock-like cataract" + "blastula 128-cell" "quinidine barbiturate measurement" "SNU-668" "CFT-2" @@ -46555,8 +46548,8 @@ "obsolete_acrofacial dysostosis, Kennedy-Teebi type" "array control genomic DNA" "anthrax toxin receptor 1" - "Atypical Lobular Breast Hyperplasia" "maxillary sinusitis" + "Atypical Lobular Breast Hyperplasia" "centrosomal protein of 112 kDa" "urothelium" "obsolete_External ear" @@ -46602,19 +46595,19 @@ "BRISC complex subunit Abro1 measurement" "3-hydroxyhexanoate" "obsolete_caudal vein plexus" - "tyramine O-sulfate measurement" "C-C motif chemokine 23 measurement" "Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone" "Buschke Lowenstein tumor" "glycosylphosphatidylinositol biosynthesis defect 18" + "tyramine O-sulfate measurement" "level of poly(U)-binding-splicing factor PUF60 in blood serum" "adhesion G protein-coupled receptor B2" "Monosomy 22q13" "3-hydroxystachydrine measurement" "Anonychia" "obsolete_Antley-Bixler syndrome" - "tripeptidyl-peptidase 1" "tumoral calcinosis, hyperphosphatemic, familial, 3" + "tripeptidyl-peptidase 1" "response to dietary antigen" "pseudounicornuate uterus" "obsolete_pneumoconiosis" @@ -46624,13 +46617,13 @@ "Helicobacter pylori infectious disease" "keratoacanthoma" "tumor necrosis factor ligand superfamily member 6" + "nephritis" "tyrosine-protein kinase BLK" "pneumonia severity measurement" "focal epilepsy-intellectual disability-cerebro-cerebellar malformation" "Na(+)/H(+) exchange regulatory cofactor NHE-RF1" "Sphingomonas wittichii RW1" "erythrokeratoderma en cocardes" - "nephritis" "neuronopathy, distal hereditary motor, autosomal recessive 4" "collagen alpha-1(XX) chain" "apolipoprotein A-I deficiency" @@ -46664,18 +46657,18 @@ "obsolete_ex vivo design" "Appendix Neuroendocrine Tumor G1" "Hyaluronidase deficiency" - "ovarian follicle stage I" "obsolete_alpha-mannosidosis, infantile form" + "ovarian follicle stage I" + "32D" + "X-11445--5-alpha-pregnan-3beta,20alpha-disulfate measurement" "fallopian tube cystadenofibroma" "KIF5" - "X-11445--5-alpha-pregnan-3beta,20alpha-disulfate measurement" "response to immunosuppressant" "selenoprotein S" - "32D" - "MDA-MB-330" "short ulna-dysmorphism-hypotonia-intellectual disability syndrome" - "level of Phosphatidylinositol (18:1_18:2) in blood serum" + "MDA-MB-330" "mitochondrial complex 4 deficiency, nuclear type 14" + "level of Phosphatidylinositol (18:1_18:2) in blood serum" "level of UPF0696 protein C11orf68 in blood serum" "Eyebrow/eyelashes structural anomaly" "obsolete_X-linked cleft palate and ankyloglossia" @@ -46844,9 +46837,9 @@ "enucleated reticulocyte" "calcium atom" "L-Glutamine to 3-Indolepropionic acid ratio" + "mono [ADP-ribose] polymerase PARP16 measurement" "Mycobacterium bovis" "1,4-dichlorobenzene" - "mono [ADP-ribose] polymerase PARP16 measurement" "secretogranin-3 measurement" "LP.08 eight leaves visible stage" "level of annexin A7 in blood serum" @@ -46927,8 +46920,8 @@ "Panc89" "ubiquitin carboxyl-terminal hydrolase 30" "MS751" - "appendectomy" "obsolete_Distal spinal muscular atrophy" + "appendectomy" "onchocerciasis" "beta-defensin 128" "protein pigeon" @@ -46962,9 +46955,9 @@ "selenium atom" "level of PH and SEC7 domain-containing protein 1 in blood serum" "carbonic anhydrase 1 measurement" + "complement component C6 measurement" "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome" "thyroid hormone receptor-associated protein 3" - "complement component C6 measurement" "X-14189--leucylalanine measurement" "14-3-3 protein sigma measurement" "age-related hearing impairment" @@ -46992,18 +46985,18 @@ "Sarcosine measurement" "congenital enterovirus infection" "methemoglobinemia" - "obsolete_citrullinemia type I" "HCASMC-hTERT"@en "COLO668" "atypical juvenile parkinsonism" - "1-(1-enyl-stearoyl)-GPC (P-18:0) measurement" "luminal B breast carcinoma" + "obsolete_citrullinemia type I" "high content analysis of cells by molecular content" "vestibulocochlear ganglion" + "1-(1-enyl-stearoyl)-GPC (P-18:0) measurement" "2-Hydroxyisocaproic acid measurement" "PA-TU-8902" - "ovarian Wilms tumor" "acrorenal syndrome" + "ovarian Wilms tumor" "Iran" "chromosome Xq28 duplication syndrome" "dyslexia-associated protein KIAA0319-like protein" @@ -47054,8 +47047,8 @@ "obsolete_microcephalic osteodysplastic dysplasia, Saul-Wilson type" "obsolete_Phosphoenolpyruvate carboxykinase 1 deficiency" "level of YTH domain-containing family protein 3 in blood" - "soluble P-selectin measurement" "glutamate pyruvate transaminase 2 deficiency" + "soluble P-selectin measurement" "level of tyrosine-protein kinase receptor UFO in blood" "WB-F344" "iCLIP" @@ -47196,8 +47189,8 @@ "blastula 1k-cell" "tubulinyl-Tyr carboxypeptidase 1" "eukaryotic peptide chain release factor GTP-binding subunit ERF3B" - "level of kin of IRRE-like protein 1 in blood serum" "Salmonella Infections" + "level of kin of IRRE-like protein 1 in blood serum" "coated vesicle" "undetermined early-onset epileptic encephalopathy" "small pre-B-II cell" @@ -47206,9 +47199,9 @@ "bile duct papillary neoplasm" "malignant neoplasm of acoustic nerve" "neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities" + "Anti-mumps virus IgG measurement" "obsolete_presumptive hypochord" "level of epiplakin in blood" - "Anti-mumps virus IgG measurement" "HG03139" "uncharacterized protein C20orf173 (human)" "snmC-seq" @@ -47348,8 +47341,8 @@ "level of NF-kappa-B inhibitor-interacting Ras-like protein 2 in blood serum" "progressive myoclonic epilepsy with dystonia" "multiple sclerosis-ichthyosis-factor VIII deficiency syndrome" - "primate-type serum amyloid A-4 protein" "Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature" + "primate-type serum amyloid A-4 protein" "primary bone dysplasia with increased bone density" "brachydactyly type A2" "geobacillus phage virus seropositivity" @@ -47436,8 +47429,8 @@ "OPA1-related optic atrophy with or without extraocular features" "trans fatty acid measurement" "obsolete_palmoplantar keratoderma, Nagashima type" - "obsolete_silver-Russell syndrome due to 7p11.2p13 microduplication" "obsolete_mild hyperphenylalaninemia" + "obsolete_silver-Russell syndrome due to 7p11.2p13 microduplication" "oculomucocutaneous syndrome"@en "ring chromosome 21" "glycoprotein metabolism disease" @@ -47461,8 +47454,8 @@ "ECV304 cell" "early-onset cerebellar ataxia with retained tendon reflexes" "obsolete_mosaic trisomy 3" - "level of pro-neuregulin-1, membrane-bound isoform in blood serum" "acute inflammatory response" + "level of pro-neuregulin-1, membrane-bound isoform in blood serum" "bromodomain testis-specific protein measurement" "X-linked acrogigantism due to Xq26 microduplication" "Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive" @@ -47550,12 +47543,12 @@ "U3 small nucleolar RNA-associated protein 6" "activated RNA polymerase II transcriptional coactivator p15" "obsolete_benign childhood occipital epilepsy, Gastaut type" - "obsolete_14q12 microdeletion syndrome" "S-7-hydroxywarfarin measurement" "central hypoventilation syndrome, congenital" "huntingtin-interacting protein 1-related protein" - "Shoulder and girdle defects - familial intellectual disability" + "obsolete_14q12 microdeletion syndrome" "E3 ubiquitin-protein ligase RNF13" + "Shoulder and girdle defects - familial intellectual disability" "partial motor epilepsy" "obsolete_sex" "BEN domain-containing protein 6" @@ -47638,8 +47631,8 @@ "homoarginine" "MX-1" "tafenoquine" - "BLESS" "NUT midline carcinoma" + "BLESS" "ophthalmic herpes zoster" "t-tau measurement" "neuronal calcium sensor 1" @@ -47702,10 +47695,10 @@ "label" "required for drug-induced death protein 1" "Li-Campeau syndrome" - "ML-1 cell" "congenital stationary night blindness" "Abnormality of the diaphragm" "Arenaviridae infectious disease" + "ML-1 cell" "Succinic acid measurement" "environmental tobacco smoke exposure measurement" "immunodeficiency 49" @@ -47991,9 +47984,9 @@ "Aba-seq" "neuroligin-4, x-linked measurement" "immunodeficiency 36" + "Metaphyseal chondrodysplasia, Schmid type" "Cannabis use initiation" "Abnormal anterior eye segment morphology" - "Metaphyseal chondrodysplasia, Schmid type" "N-alpha-acetyltransferase 20" "ubiquitin-conjugating enzyme E2 S" "level of calcium-binding protein 2 in blood" @@ -48080,8 +48073,8 @@ "obsolete_Pfeiffer-Palm-Teller syndrome" "mesoblastic nephroma" "chromosome 17P13.3, telomeric, duplication syndrome" - "Hemoglobin E to Total Hemoglobin Ratio Measurement" "level of alpha-1-acid glycoprotein 1 in blood" + "Hemoglobin E to Total Hemoglobin Ratio Measurement" "Mytilus californianus" "Abnormality of the abdominal wall" "obsolete_C3 glomerulonephritis" @@ -48093,8 +48086,8 @@ "chorea" "desmoglein-1 measurement" "obsolete_free sialic acid storage disease, infantile form" - "Cardiac Tamponade" "undifferentiated carcinoma of esophagus" + "Cardiac Tamponade" "cystinosis" "1-linoleoyl-2-linolenoyl-GPC (18:2/18:3) measurement" "mating type h plus" @@ -48146,8 +48139,8 @@ "cataract 8 multiple types" "GM17263" "trans-16:1n-7 fatty acid measurement" - "spinocerebellar ataxia type 28" "Marfanoid habitus - intellectual disability, autosomal recessive" + "spinocerebellar ataxia type 28" "non-allergic anaphylaxis"@en "NCI-H1770" "interleukin 1 receptor-like 1 measurement" @@ -48205,9 +48198,9 @@ "syntaxin-6" "obsolete_non-syndromic limb reduction defect" "composite lymphoma" - "acquired aplastic anemia" "Nephropathy" "level of endogenous retrovirus group V member 1 Env polyprotein in blood serum" + "acquired aplastic anemia" "procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 measurement" "probable RNA-binding protein 19" "obsolete_pelvic girdle" @@ -48240,9 +48233,9 @@ "Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome" "ribosyldihydronicotinamide dehydrogenase [quinone] measurement" "segment polarity protein dishevelled homolog DVL-2 measurement" + "3-hydroxyanthranilate 3;4-dioxygenase measurement" "level of annexin A9 in blood serum" "CS57610" - "3-hydroxyanthranilate 3;4-dioxygenase measurement" "X-12111 measurement" "autosomal dominant palmoplantar keratoderma and congenital alopecia" "pilar sheath acanthoma" @@ -48250,8 +48243,8 @@ "quinoline" "obsolete_neonatal inflammatory skin and bowel disease" "glucose metabolic process" - "Senecio chrysanthemifolius" "protein transport" + "Senecio chrysanthemifolius" "Campylobacter jejuni subsp. jejuni 81-176" "autosomal recessive limb-girdle muscular dystrophy type 2P" "progressive myoclonic epilepsy type 6" @@ -48283,8 +48276,8 @@ "age related macular degeneration 11" "transketolase deficiency" "5alpha-androstan-3alpha,17beta-diol monosulfate (1) measurement" - "triacylglycerol 58:9 measurement"@en "intellectual developmental disorder, autosomal dominant 72" + "triacylglycerol 58:9 measurement"@en "dengue virus, susceptibility to" "thoracolumbosacral spina bifida cystica" "vanillate" @@ -48320,10 +48313,10 @@ "mosaic trisomy 21" "juvenile idiopathic scoliosis" "integral membrane protein 2A" - "lipoid nephrosis" "parathyroid hormone" "zinc finger CCHC domain-containing protein 17" "Pt45P1" + "lipoid nephrosis" "OV56" "Uk-3" "Dickkopf-related protein 4 measurement" @@ -48395,8 +48388,8 @@ "level of membrane primary amine oxidase in blood serum" "Ralstonia eutropha H16" "Abnormal lung morphology" - "obsolete_qualitative or quantitative defects of beta-myosin heavy chain (MYH7)" "spongiotic dermatitis" + "obsolete_qualitative or quantitative defects of beta-myosin heavy chain (MYH7)" "Striae distensae" "indole-3-acetic acid" "Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes" @@ -48491,8 +48484,8 @@ "leucine-rich repeat-containing G-protein coupled receptor 5" "mitral valve stenosis" "urethra cancer" - "phosphatidylcholine 32:2" "HIV viral set point measurement" + "phosphatidylcholine 32:2" "obsolete_EDICT syndrome" "rheumatic myocarditis" "plant structure" @@ -48514,8 +48507,8 @@ "obsolete_adult muscle precursor primordium" "methanol" "CD71-low, GlyA-positive polychromatic erythroblast" - "platelet-type bleeding disorder 19" "ATC Classification System" + "platelet-type bleeding disorder 19" "central nervous system melanocytic neoplasm" "Methanococcoides burtonii" "obsolete_endosperm" @@ -48536,9 +48529,9 @@ "acquired cold urticaria" "NCI-H1915" "benign neoplasm" - "sphingolipid measurement" "obsolete_conjunctival tumor" "[pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 2, mitochondrial measurement" + "sphingolipid measurement" "isolated congenital digital clubbing" "obsolete short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies" "distal monosomy 17q" @@ -48572,8 +48565,8 @@ "asparagine measurement" "response to isoquinoline alkaloid" "X-14208--phenylalanylserine measurement" - "level of DnaJ homolog subfamily C member 5B in blood serum" "26s proteasome non-atpase regulatory subunit 7 measurement" + "level of DnaJ homolog subfamily C member 5B in blood serum" "brachydactyly-nystagmus-cerebellar ataxia syndrome" "total lipids in very large HDL measurement " "interleukin-5 measurement" @@ -48657,8 +48650,8 @@ "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 measurement" "obsolete_PMM2-CDG" "adenosine diphosphate measurement"@en - "ring stage trophozoite" "neprilysin" + "ring stage trophozoite" "spinocerebellar ataxia type 8" "obsolete_familial rhabdoid tumor" "level of peptidyl-prolyl cis-trans isomerase FKBP4 in blood" @@ -48776,11 +48769,11 @@ "phalangeal microgeodic syndrome" "hypercalcemia, infantile, 2" "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form" - "osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome" "obsolete_oculocutaneous albinism type 1" - "Partial trisomy of the short arm of chromosome 9" + "osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome" "Combined T and B cell immunodeficiency" "small intestine cancer" + "Partial trisomy of the short arm of chromosome 9" "inherited deficiency anemia" "LP.17 seventeen leaves visible stage" "Ileal Neuroendocrine Tumor G1" @@ -48845,9 +48838,9 @@ "level of secernin-3 in blood serum" "immunodeficiency, common variable, 2" "vascular endothelial growth factor receptor 1" + "obsolete_hypertrichosis lanuginosa congenita" "grancalcin measurement" "X-24432 measurement" - "obsolete_hypertrichosis lanuginosa congenita" "anal pad specific anlage" "ovarian clear cell cancer" "Rho GTPase-activating protein 30" @@ -48933,9 +48926,9 @@ "obsolete_Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis" "nephron" "agenesis of corpus callosum, cardiac, ocular, and genital syndrome" + "pituitary apoplexy" "retinal ischemia" "periostin measurement" - "pituitary apoplexy" "trophoblast" "proline measurement" "level of cadherin-related family member 2 in blood" @@ -48950,7 +48943,6 @@ "lactobacillus phage virus seropositivity" "hindlimb bone" "syntaxin-7" - "profilin-2 measurement" "SH3 domain-binding protein 1" "congenital diaphragmatic hernia" "severe aplastic anemia" @@ -48958,6 +48950,7 @@ "Polycystic kidney dysplasia" "level of WW domain binding protein 1-like in blood serum" "nasal vein" + "profilin-2 measurement" "susceptibility to mononucleosis measurement" "MTLn3" "level of serine/threonine-protein phosphatase PP1-gamma catalytic subunit in blood serum" @@ -48986,8 +48979,8 @@ "hereditary spastic paraplegia 77" "triacylglycerol 60:12 measurement"@en "urogenital tuberculosis" - "level of Triacylglycerol (51:3) in blood serum" "small ribosomal subunit protein RACK1" + "level of Triacylglycerol (51:3) in blood serum" "level of centriolar satellite-associated tubulin polyglutamylase complex regulator 1 in blood serum" "double uterus-hemivagina-renal agenesis syndrome" "level of protein timeless in blood serum" @@ -48999,10 +48992,10 @@ "response to doxorubicin" "X-12112 measurement" "Contractures - ectodermal dysplasia - cleft lip/palate" + "vascular brain injury" "hemoglobin C-beta-thalassemia syndrome" "Zaire ebolavirus" "peregrin" - "vascular brain injury" "methylmalonic aciduria and homocystinuria" "tubal tonsil" "level of ubiquitin carboxyl-terminal hydrolase 11 in blood serum" @@ -49063,13 +49056,13 @@ "obsolete_dentinogenesis imperfecta" "neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter" "corneal infection" + "Proximal spinal muscular atrophy type 4" "dopamine agonist" "level of growth arrest and DNA damage-inducible protein GADD45 beta in blood" "autosomal recessive nonsyndromic hearing loss 9" - "Proximal spinal muscular atrophy type 4" "obsolete_leukocyte adhesion deficiency" - "tumour of cranial and spinal nerves" "obsolete_hereditary chronic pancreatitis" + "tumour of cranial and spinal nerves" "TpTe measurement" "muscular dystrophy, congenital, with or without seizures" "nuclear RNA export factor 1 measurement" @@ -49091,13 +49084,13 @@ "phenylalanine" "radio-ulnar synostosis, bilateral" "congenitally corrected transposition of the great arteries" - "obsolete_Eiken syndrome" "familial thrombocytosis" "paralemmin" "gram" "level of charged multivesicular body protein 1b in blood serum" "level of T-cell surface glycoprotein CD8 beta chain in blood serum" "level of transcription factor AP-2-alpha in blood" + "obsolete_Eiken syndrome" "N-stearoylsphingosine-1-phosphocholine" "E3 ubiquitin-protein ligase HECTD3" "level of prohibitin-2 in blood serum" @@ -49108,14 +49101,14 @@ "obsolete_familial vesicoureteral reflux" "malignant T cell-amplified sequence 1" "janus kinase and microtubule-interacting protein 3 measurement" + "X-linked Charcot-Marie-Tooth disease" "mucopolysaccharide metabolic process" "histiocytic medullary reticulosis" - "X-linked Charcot-Marie-Tooth disease" "Basaloid Carcinoma" + "free cholesterol in VLDL measurement " "PARE-Seq" "inherited prekallikrein deficiency" "cysteine-rich secretory protein 2" - "free cholesterol in VLDL measurement " "Slide-seq" "calcaneus" "Sphingomyelin (d18:1/14:0, d16:1/16:0) measurement" @@ -49136,10 +49129,10 @@ "level of lysine-specific histone demethylase 1A in blood serum" "matrix metalloproteinase-19" "Pulmonary hypoplasia" - "Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation" "tick paralysis" "Abnormal thymus morphology" "lipopolysaccharide" + "Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation" "monocarboxylate transporter 4" "left inferior lateral ventricle volume measurement" "freshwater sediment metagenome" @@ -49201,8 +49194,8 @@ "malabsorption syndrome" "pharyngeal arch" "radial hemimelia" - "obsolete_multicentric osteolysis-nodulosis-arthropathy spectrum" "nipple" + "obsolete_multicentric osteolysis-nodulosis-arthropathy spectrum" "spinal stenosis" "level of nuclear receptor subfamily 1 group D member 2 in blood serum" "Hurler syndrome" @@ -49304,8 +49297,8 @@ "sulfate of piperine metabolite C16H19NO3 (2) measurement" "AP-1 complex subunit gamma-like 2" "ursocholate measurement" - "arthritis" "myopathy, tubular aggregate, 2" + "arthritis" "obsolete_nuclear oculomotor paralysis" "obsolete_dentinogenesis imperfecta type 3" "mediator of RNA polymerase II transcription subunit 4 measurement" @@ -49424,14 +49417,14 @@ "erythropoietic protoporphyria" "future telencephalon" "eyelid carcinoma" + "obsolete_coloboma of inferior eyelid" "obsolete_disease state" "zymogen granule membrane protein 16" - "obsolete_coloboma of inferior eyelid" "hereditary inclusion body myopathy type 4" "level of procollagen galactosyltransferase 1 in blood serum" "obsolete_48,XXYY syndrome" - "well-differentiated liposarcoma" "Low birth weight - dwarfism - dysgammaglobulinemia" + "well-differentiated liposarcoma" "obsolete_neurocranial trabecula" "branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome" "osteoma" @@ -49470,16 +49463,16 @@ "level of centrosomal protein 20 in blood serum" "Rhodospirillum rubrum" "Middle East respiratory syndrome" - "Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency" - "obsolete_benign partial epilepsy with secondarily generalized seizures in infancy" "GRAM domain-containing protein 1C measurement" "X-24431 measurement" "omega-3 polyunsaturated fatty acid measurement" "ILSXISS107/TejJ" + "obsolete_benign partial epilepsy with secondarily generalized seizures in infancy" + "Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency" "tyrosine-protein kinase FRK measurement" - "obsolete_response to dabigatran etexilate" "protocadherin gamma-C3" "aniridia - intellectual disability syndrome" + "obsolete_response to dabigatran etexilate" "obsolete_zebra body myopathy" "regulator of G-protein signaling 8" "Genetic immune deficiency with skin involvement" @@ -49505,10 +49498,10 @@ "Inclusion Body Fibromatosis" "ichthyosis, annular epidermolytic 1" "rigid spine muscular dystrophy 1" - "serine protease inhibitor Kazal-type 2 measurement" "Grey matter density measurement"@en "biological macromolecule" "congenital vertical talus, bilateral" + "serine protease inhibitor Kazal-type 2 measurement" "conversion protocol" "verrucous hemangioma" "negative elongation factor E" @@ -49522,8 +49515,8 @@ "chromosome transmission fidelity protein 8 homolog" "level of UV excision repair protein RAD23 homolog A in blood serum" "neurodegeneration, childhood-onset, with progressive microcephaly" - "obsolete_coloboma of iris" "transcription elongation factor A protein-like 8" + "obsolete_coloboma of iris" "Abnormality of the breast" "obsolete_familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation" "amyloidoma" @@ -49648,9 +49641,9 @@ "neurological pain disorder" "level of adenosine kinase in blood serum" "C1q-related factor" - "obsolete_autosomal recessive bestrophinopathy" "4-hydroxybenzyl isothiocyanate 4-acetylrhamnoside measurement" "nasal cavity olfactory neuroblastoma" + "obsolete_autosomal recessive bestrophinopathy" "Leymus cinereus" "level of Fos-related antigen 2 in blood serum" "elongin-B" @@ -49736,9 +49729,9 @@ "ribosome-binding protein 1 measurement" "cardiomyopathy, familial restrictive, 3" "IQ domain-containing protein F3" + "HIB-1B" "phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform" "susceptibility to mumps measurement" - "HIB-1B" "GRB2-associated-binding protein 1" "alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A" "platelet-derived growth factor receptor-like protein measurement" @@ -49754,10 +49747,10 @@ "genochondromatosis type 2" "obsolete secondary ectropion" "Autosomal recessive spastic paraplegia type 35" + "Autosomal dominant spastic paraplegia type 8" "sci-Hi-C" "catecholaminergic polymorphic ventricular tachycardia 1" "phosphatidylcholine O-34:1" - "Autosomal dominant spastic paraplegia type 8" "familial avascular necrosis of femoral head" "Pancreatic Gastrinoma" "isocitric lactone measurement" @@ -49769,8 +49762,8 @@ "bifid uvula" "chromogranin-A measurement" "X-linked intellectual disability with hypopituitarism" - "malignant hypertensive renal disease" "C-type lectin domain family 5 member A" + "malignant hypertensive renal disease" "3-(imidazol-5-yl)lactic acid" "obsolete complex chromosomal rearrangement" "Arthrogryposis - hyperkeratosis, lethal form" @@ -49819,12 +49812,12 @@ "GTP-binding protein 10" "level of uncharacterized protein C2orf73 in blood serum" "Cis-5,8,11,14,17-eicosapentaenoic acid (C20:5n3) to LysoPC 20:2 ratio" + "obsolete_X-linked pure spastic paraplegia" "level of ATP-dependent RNA helicase DDX25 in blood serum" "glutamate carboxypeptidase 2 measurement" "iPS-11b" "combined oxidative phosphorylation defect type 4" "corticobasal syndrome" - "obsolete_X-linked pure spastic paraplegia" "obsolete bulbospinal muscular atrophy of adulthood" "HIV-associated cancer" "Dejerine-Sottas syndrome" @@ -49841,9 +49834,9 @@ "Rare genetic vascular disease" "level of protein FAM9B in blood serum" "Atypical Endometrial Hyperplasia" - "obsolete_neuroectodermal melanolysosomal disease" "sebaceous gland neoplasm" "transferrin measurement" + "obsolete_neuroectodermal melanolysosomal disease" "hereditary neoplastic syndrome" "ATP-binding cassette sub-family C member 6" "response to opioid" @@ -49920,13 +49913,13 @@ "juvenile ankylosing spondylitis" "level of protein AHNAK2 in blood" "ECCITE-seq" - "process" "Illumina HiSeq 1500" + "process" + "HG03460" "Bla-1" "JAR" "distal" "dynein light chain roadblock-type 1 measurement" - "HG03460" "tripeptidyl-peptidase activity" "proctosigmoiditis" "obsolete_proximal portion of anterior interventricular branch of left coronary artery" @@ -49967,11 +49960,11 @@ "obsolete_spheroid body myopathy" "obsolete_Aicardi syndrome" "SYNGAP1-related developmental and epileptic encephalopathy" - "curcumin" "obsolete_intermediate DEND syndrome" + "curcumin" + "deafness-vitiligo-achalasia syndrome" "level of receptor-type tyrosine-protein phosphatase kappa in blood" "holoprosencephaly 12 with or without pancreatic agenesis" - "deafness-vitiligo-achalasia syndrome" "Mixed Cell Uveal Melanoma" "hatching long-pec" "low tension glaucoma" @@ -49998,8 +49991,8 @@ "plasmalemma vesicle-associated protein" "level of cell cycle exit and neuronal differentiation protein 1 in blood" "level of calcium-binding protein 8 in blood serum" - "1-tetradecanoyl-2-[(9Z,12Z)-octadecadienoyl]-sn-glycero-3-phosphocholine" "level of Ras-related protein R-Ras in blood" + "1-tetradecanoyl-2-[(9Z,12Z)-octadecadienoyl]-sn-glycero-3-phosphocholine" "level of protein PAXX in blood" "obsolete_10x 5' v3" "mouse embryo stage" @@ -50012,10 +50005,10 @@ "level of heparan sulfate glucosamine 3-O-sulfotransferase 3B1 in blood serum" "level of pregnancy-specific beta-1-glycoprotein 2 in blood serum" "droplet-based single-cell RNA library preparation" - "Antwerpen ecotype" "connective tissue-activating peptide III measurement" - "obsolete syndromic optic nerve hypoplasia" + "Antwerpen ecotype" "urine collection" + "obsolete syndromic optic nerve hypoplasia" "obsolete_endometrium" "splenic metallophillic macrophage" "Common atrium" @@ -50086,9 +50079,9 @@ "Mononegavirales infectious disease" "membrane cofactor protein" "level of serpin H1 in blood serum" - "medium-chain specific acyl-CoA dehydrogenase, mitochondrial" "5-fluorouracil" "trait in response to antirheumatic drug" + "medium-chain specific acyl-CoA dehydrogenase, mitochondrial" "Phanerochaete chrysosporium" "sphingomyelin measurement" "holoprosencephaly" @@ -50169,8 +50162,8 @@ "obsolete_multiple epiphyseal dysplasia and pseudoachondroplasia" "coronary aneurysm" "host extracellular space" - "obsolete_congenital muscular dystrophy with hyperlaxity" "obsolete_bile acid CoA ligase deficiency and defective amidation" + "obsolete_congenital muscular dystrophy with hyperlaxity" "epibranchial 5" "DNA repair protein XRCC1 measurement" "level of EMI domain-containing protein 1 in blood serum" @@ -50182,8 +50175,8 @@ "obsolete_terminal nerve" "fibroma" "obsolete_congenital factor XII deficiency" - "stearoyl sphingomyelin (d18:1/18:0) measurement" "obsolete_prostate specific antigen measurement" + "stearoyl sphingomyelin (d18:1/18:0) measurement" "2',3'-cyclic-nucleotide 3'-phosphodiesterase measurement" "IgG isotype profile measurement" "Penicillium viridicatum" @@ -50197,8 +50190,8 @@ "melanocyte protein PMEL measurement" "Euphoria" "candela" - "NF-kappa-B inhibitor delta" "Congenital aphakia" + "NF-kappa-B inhibitor delta" "lysophosphatidylcholine 14:0" "omphalocele syndrome, Shprintzen-Goldberg type" "retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome" @@ -50236,8 +50229,8 @@ "obsolete_axilla" "level of Sphingomyelin (d32:1) in blood serum" "Infiltrating Bladder Lymphoepithelioma-Like Carcinoma" - "obsolete_genetic central nervous system and retinal vascular disease" "serine protease inhibitor Kazal-type 6 measurement" + "obsolete_genetic central nervous system and retinal vascular disease" "receptor-type tyrosine-protein phosphatase S measurement" "N-gondoylethanolamine" "5q35 microduplication syndrome" @@ -50342,7 +50335,7 @@ "familial acute necrotizing encephalopathy" "skin angiosarcoma" "Clouston syndrome" - "cellular metabolic process" + "obsolete cellular metabolic process" "abdominal aorta" "mevalonate" "neurodegeneration with brain iron accumulation 2A" @@ -50368,9 +50361,9 @@ "obsolete intracellular part" "obsolete_hindgut anlage" "head and neck malignant neoplasia" + "obsolete_hereditary hypercarotenemia and vitamin A deficiency" "calcium/calmodulin-dependent 3';5'-cyclic nucleotide phosphodiesterase 1A measurement" "KBG syndrome" - "obsolete_hereditary hypercarotenemia and vitamin A deficiency" "Prolactin-Producing Pituitary Gland Carcinoma" "autosomal recessive severe congenital neutropenia due to JAGN1 deficiency" "Bockenheimer syndrome" @@ -50404,9 +50397,9 @@ "serum lipase activity measurement" "neurofibroma" "congenital myasthenic syndrome 16" + "obsolete_qualitative or quantitative protein defects in neuromuscular diseases" "GM06985" "N(6)-acetimidoyl-L-lysine dihydrochloride" - "obsolete_qualitative or quantitative protein defects in neuromuscular diseases" "aspartate--tRNA ligase, cytoplasmic" "Treacher Collins syndrome 4" "Microcornea-myopic chorioretinal atrophy-telecanthus syndrome" @@ -50431,8 +50424,8 @@ "ROS-17/2.8" "porokeratosis plantaris palmaris et disseminata" "level of splicing factor 3B subunit 4 in blood serum" - "non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome" "CS57873" + "non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome" "level of IGF-like family receptor 1 in blood serum" "obsolete_phakomatosis pigmentokeratotica" "collectrin measurement" @@ -50454,9 +50447,8 @@ "sn-Hi-C" "salivary gland adenoid cystic carcinoma" "Rare bone disease related to a common gene or pathway defect" - "phosphatidylcholine (18:0/20:2, 20:0/18:2) measurement" - "X-11315-to-pyroglutamine ratio" "dickkopf-like protein 1 measurement" + "X-11315-to-pyroglutamine ratio" "cadaver dissection" "Thalassiosira pseudonana CCMP1335" "Respiratory failure requiring assisted ventilation" @@ -50465,6 +50457,7 @@ "follicle cell of egg chamber" "autosomal dominant intermediate Charcot-Marie-Tooth disease" "level of Triacylglycerol (53:3) in blood serum" + "phosphatidylcholine (18:0/20:2, 20:0/18:2) measurement" "level of required for drug-induced death protein 1 in blood serum" "Lactobacillus reuteri 100-23" "choline" @@ -50507,8 +50500,8 @@ "Pancreatic Glucagonoma" "suberate (C8-DC) measurement" "obsolete_anlage in statu nascendi" - "Rho GTPase-activating protein 5" "cryptorchidism" + "Rho GTPase-activating protein 5" "echinocyte" "carboxypeptidase A2" "EGF-containing fibulin-like extracellular matrix protein 1 measurement" @@ -50532,8 +50525,8 @@ "dimethylarginine (SDMA + ADMA) measurement" "caspase-2 measurement" "glutaryl-CoA dehydrogenase deficiency" - "nucleosome assembly protein 1-like 2 measurement" "Large forehead" + "nucleosome assembly protein 1-like 2 measurement" "diaminopimelate measurement" "obsolete_PYCR1-related de Barsy syndrome" "obsolete_mucopolysaccharidosis type 6, slowly progressing" @@ -50599,8 +50592,8 @@ "chloride intracellular channel protein 2" "obsolete_qualitative or quantitative defects of emerin" "ADP-ribosylation factor 6" - "Non-syndromic pontocerebellar hypoplasia" "obsolete_2q31.1 microduplication syndrome" + "Non-syndromic pontocerebellar hypoplasia" "17q12 microdeletion syndrome" "GM12873" "distal 16p11.2 microdeletion syndrome" @@ -50671,10 +50664,10 @@ "level of contactin-6 in blood serum" "tumor of parathyroid gland" "Disorder of pyrimidine metabolism" - "BRB-seq" "wild type genotype" "differentially expressed in FDCP 6" "dorsal" + "BRB-seq" "beta-defensin 128 measurement" "hereditary ataxia" "biliary tract cancer" @@ -50684,14 +50677,13 @@ "Difficulty standing" "Abnormal eating behavior" "GR 127935 hydrochloride" - "HAP1"@en "HAP-1" "medication adherence behavior" - "Cardiodysrhythmic potassium-sensitive periodic paralysis" "cytohesin-3" "analgesia requirement measurement" - "nephrogenic syndrome of inappropriate antidiuresis" + "Cardiodysrhythmic potassium-sensitive periodic paralysis" "Hyporeflexia" + "nephrogenic syndrome of inappropriate antidiuresis" "Neurogenic bladder" "molluscum contagiosum" "anal neoplasm" @@ -50711,8 +50703,8 @@ "alveolar rhabdomyosarcoma" "glutathione hydrolase 1 proenzyme" "dehydrogenase/reductase SDR family member 9" - "Episodic ataxia with slurred speech" "vesicle-associated membrane protein-associated protein B/C" + "Episodic ataxia with slurred speech" "response to dietary selenium supplementation" "obsolete_trisomy 12p" "Papillon-Lefèvre syndrome" @@ -50909,8 +50901,8 @@ "glottis squamous cell carcinoma" "bacteremia, susceptibility" "qualitative or quantitative defects of dystrophin" - "obsolete_Flynn-Aird syndrome" "COS-7" + "obsolete_Flynn-Aird syndrome" "viral meningitis" "myopathy caused by variation in FKTN" "level of ELAV-like protein 1 in blood serum" @@ -51038,8 +51030,8 @@ "TREX1-related type 1 interferonopathy" "Sudanophilic leukodystrophy" "carbohydrate sulfotransferase 11 measurement" - "micrometer" "collagen alpha-5(VI) chain measurement" + "micrometer" "age of onset of glioblastoma" "Open mouth" "skeletal muscle cancer" @@ -51047,9 +51039,9 @@ "obsolete_isolated ectopia lentis" "macrophage colony-stimulating factor 1 measurement" "obsolete_coronary stenosis" + "intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities" "platelet aggregation" "host intracellular region" - "intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities" "hypoinsulinemic hypoglycemia and body hemihypertrophy" "nasal cavity and paranasal sinus carcinoma" "malignant choroid melanoma" @@ -51103,8 +51095,8 @@ "Rhodobacter sphaeroides 2.4.1" "obsolete_ArrayExpress experiment type" "chronic atrial and intestinal dysrhythmia" - "traditional Chinese medicine type" "7-chlorokynurenic acid" + "traditional Chinese medicine type" "level of eukaryotic translation initiation factor 2 subunit 2 in blood" "level of SLIT-ROBO Rho GTPase-activating protein 2 in blood serum" "obsolete membrane part" @@ -51147,8 +51139,8 @@ "level of transcription factor PML in blood serum" "X-13215-to-X-13671 ratio" "blastula dome" - "Cocos nucifera" "1-linoleoyl-2-docosapentaenyol-GPC (18:2/22:5n3) measurement" + "Cocos nucifera" "C->U-editing enzyme APOBEC-2" "prothrombin measurement" "microphthalmia, syndromic 2" @@ -51200,8 +51192,8 @@ "kelch-like ECH-associated protein 1 measurement" "Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism" "obsolete_Cooks syndrome" - "sphingomyelin 22:0 measurement"@en "anti-human herpes virus 6 antibody measurement"@en + "sphingomyelin 22:0 measurement"@en "omentum" "fertilized ovule stage" "Pediococcus acidilactici" @@ -51220,19 +51212,19 @@ "level of UL-16 binding protein 5 in blood serum" "3-Indolepropionic acid to Lauric acid ratio" "patella aplasia/hypoplasia, bilateral" - "anti-saccharomyces cerevisiae IgA measurement" "obsolete_Carpenter syndrome" - "Citrullinuria" + "anti-saccharomyces cerevisiae IgA measurement" "femoral neck fracture" + "Citrullinuria" "N-acetylserine measurement" "membrane-bound transcription factor site-1 protease" "RAB6-interacting golgin" + "obsolete_infantile epileptic-dyskinetic encephalopathy" "cathepsin E measurement" "spermatogenic failure 66" - "obsolete_infantile epileptic-dyskinetic encephalopathy" - "reading and spelling ability" "multiple acyl-CoA dehydrogenase deficiency" "disorder of visual system" + "reading and spelling ability" "vaginal yolk sac tumor" "diffuse lipomatosis" "Shukla-Vernon syndrome" @@ -51433,11 +51425,11 @@ "level of uncharacterized protein FAM241A in blood serum" "obsolete_GM12891" "level of 2,4-dienoyl-CoA reductase [(3E)-enoyl-CoA-producing], mitochondrial in blood serum" + "obsolete_autosomal anomaly" "collecting duct carcinoma" "hereditary neuroendocrine tumor of small intestine" "plexin-A1" "obsolete muscular lipidosis" - "obsolete_autosomal anomaly" "accelerated tumor formation, susceptibility to"@en "glucose change measurement" "Peptic ulcer and gastro-oesophageal reflux disease (GORD) drug use measurement" @@ -51504,9 +51496,9 @@ "interleukin-20 receptor subunit alpha measurement" "level of mediator of RNA polymerase II transcription subunit 20 in blood serum" "auriculocondylar syndrome" - "Barrett adenocarcinoma" "peroxisome biogenesis disorder due to PEX16 defect" "SCLC-22H" + "Barrett adenocarcinoma" "obsolete_isolated scaphocephaly" "DNA fragmentation factor subunit alpha" "glucosamine 6-phosphate N-acetyltransferase measurement" @@ -51528,7 +51520,6 @@ "obsolete adult hypophosphatasia" "level of arylamine N-acetyltransferase 1 in blood serum" "glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1" - "Disorder of the gamma-glutamyl cycle" "methylcobalamin deficiency type cblE" "UTMC-2"@en "Festuca rubra subsp. littoralis" @@ -51536,11 +51527,12 @@ "level of transmembrane protease serine 6 in blood serum" "level of sodium/iodide cotransporter in blood serum" "lissencephaly due to TUBA1A mutation" - "GM1 ganglioside measurement" + "Disorder of the gamma-glutamyl cycle" "level of transmembrane and coiled-coil domain-containing protein 5A in blood serum" - "tracheal brush" + "GM1 ganglioside measurement" "Burren ecotype" "lateral" + "tracheal brush" "GM17168" "obsolete_proximal portion of right coronary artery" "cardiomyopathy-cataract-hip spine disease syndrome" @@ -51621,10 +51613,10 @@ "X-12717 measurement" "IMR-32" "millimeter" - "X-linked intellectual disability, Abidi type" - "obsolete_mevalonate kinase deficiency" "parafollicular cell" "level of heparan sulfate glucosamine 3-O-sulfotransferase 5 in blood serum" + "X-linked intellectual disability, Abidi type" + "obsolete_mevalonate kinase deficiency" "obsolete moderate COVID-19 infection" "obsolete chloroplast part" "obsolete_epididymus" @@ -51638,16 +51630,16 @@ "benzylpenicillin" "T-helper 9 cell" "obsolete_congenital secondary polycythemia" - "vitamin A deficiency" "level of derlin-1 in blood serum" + "vitamin A deficiency" "Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome" "CAL51" "level of ELAV-like protein 2 in blood serum" "Cardiac Rhabdomyoma" "Charcot-Marie-Tooth disease dominant intermediate C" "obsolete_symptomatic form of Coffin-Lowry syndrome in female carriers" - "obsolete_glycogen storage disease due to liver phosphorylase kinase deficiency" "obsolete_Adult hypophosphatasia" + "obsolete_glycogen storage disease due to liver phosphorylase kinase deficiency" "age at last pregnancy measurement" "dynactin subunit 1" "5'-nucleotidase domain-containing protein 1" @@ -51668,8 +51660,8 @@ "Nematoda" "Leber congenital amaurosis 8" "respiratory system venous blood vessel" - "3-Indolepropionic acid to LysoPC 20:1 ratio" "Rothmund-Thomson syndrome type 2" + "3-Indolepropionic acid to LysoPC 20:1 ratio" "kallikrein-11 measurement"@en "congenital absence of both forearm and hand" "Chronic diarrhea with hereditary sensory and autonomic neuropathy" @@ -51680,9 +51672,9 @@ "level of uncharacterized protein C22orf15 (human) in blood serum" "mitogen-activated protein kinase kinase kinase kinase 3" "acquired generalized lipodystrophy" - "BMI-adjusted waist-hip ratio" "immunoglobulin superfamily member 3" "level of tRNA (cytosine-5-)-methyltransferase in blood" + "BMI-adjusted waist-hip ratio" "acquired polycythemia" "GM17228" "Midline defect of mandible" @@ -51713,8 +51705,8 @@ "odorant-binding protein 2b" "level of biogenesis of lysosome-related organelles complex 1 subunit 6 in blood serum" "level of upstream stimulatory factor 2 in blood serum" - "complete cryptophthalmia" "obsolete_ectoderm" + "complete cryptophthalmia" "hemangiopericytoma of skin" "chondroitin sulfate proteoglycan 5" "obsolete_leukoencephalopathy with bilateral anterior temporal lobe cysts" @@ -51782,9 +51774,9 @@ "familial congenital mirror movements" "fludrocortisone" "Leukocyte adhesion deficiency type I" - "proto-oncogene vav measurement" "laryngeal squamous cell carcinoma" "Li-Ghorbani-Weisz-Hubshman syndrome" + "proto-oncogene vav measurement" "Prostate Small Cell Carcinoma" "level of probable N-acetyltransferase 14 in blood serum" "Deafness - small bowel diverticulosis - neuropathy" @@ -51826,19 +51818,19 @@ "nafadotride" "phosphatidylcholine O-36:2" "pooled clone sequencing" - "obsolete_congenital pseudoarthrosis of clavicle" "level of serglycin in blood serum" + "obsolete_congenital pseudoarthrosis of clavicle" "craniodiaphyseal dysplasia" "tyrosine-protein kinase lyn measurement" "level of malonyl-CoA decarboxylase, mitochondrial in blood serum" "level of islet amyloid polypeptide in blood serum" + "obsolete_autosomal recessive hyperinsulinism due to SUR1 deficiency" "level of myosin-binding protein C, fast-type in blood" + "obsolete_mammary-digital-nail syndrome" "chloride measurement" "arylsulfatase B measurement" - "obsolete_autosomal recessive hyperinsulinism due to SUR1 deficiency" - "neuroectodermal-endocrine syndrome" - "obsolete_mammary-digital-nail syndrome" "serine/threonine-protein kinase WNK1" + "neuroectodermal-endocrine syndrome" "obsolete choroideremia-hypopituitarism syndrome" "vertebral disorder" "uncharacterized protein C1orf115 measurement" @@ -51849,16 +51841,16 @@ "NOR/LtJ"@en "Staphylococcus lentus" "obsolete_porencephaly-microcephaly-bilateral congenital cataract syndrome" - "obsolete_short rib-polydactyly syndrome" "nectin-3" + "obsolete_short rib-polydactyly syndrome" "level of beta-1,3-galactosyltransferase 1 in blood serum" "serine/arginine-rich splicing factor 7 measurement" "Joubert syndrome with oculorenal defect" "capillary malformation-arteriovenous malformation 1" "immunodeficiency due to CD25 deficiency" "obsolete_PHAVER syndrome" - "maleylacetoacetate isomerase" "complement C1q tumor necrosis factor-related protein 3 measurement" + "maleylacetoacetate isomerase" "5alpha-androstan-3alpha,17beta-diol 17-glucuronide measurement" "eosinophil percentage of granulocytes" "pyruvate dehydrogenase protein X component, mitochondrial" @@ -51891,9 +51883,9 @@ "454 GS 20 standard manufacturer's protocol" "level of N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 in blood" "anti-human herpes virus 7 antibody measurement"@en - "triacylglycerol 50:3 measurement"@en "typhasterol" "sphingomyelin 22:1 measurement"@en + "triacylglycerol 50:3 measurement"@en "GM17107" "developing seed stage" "early whole plant fruit ripening stage" @@ -52058,8 +52050,8 @@ "talin rod domain-containing protein 1" "adult extraskeletal osteosarcoma" "immune system disease" - "obsolete_adult Krabbe disease" "FiT-Seq" + "obsolete_adult Krabbe disease" "Clear Cell Papillary Cystadenoma" "Kit-low, CD34-positive eosinophil progenitor cell" "X-17185 measurement" @@ -52069,10 +52061,10 @@ "Huntington disease-like 3" "salivary duct carcinoma" "neuronal growth regulator 1 measurement" - "autosomal recessive spinocerebellar ataxia 12" "obsolete_T+ B+ severe combined immunodeficiency" - "heart valve prosthesis" + "autosomal recessive spinocerebellar ataxia 12" "single nucleus RNA sequencing" + "heart valve prosthesis" "Charcot-Marie-Tooth disease type 4A" "feather" "pterin-4-alpha-carbinolamine dehydratase" @@ -52092,8 +52084,8 @@ "level of ubiquitin carboxyl-terminal hydrolase 19 in blood serum" "carbohydrate transport" "T-Cell Prolymphocytic Leukemia" - "X-12094 measurement" "level of secretoglobin family 3A member 2 in blood serum" + "X-12094 measurement" "Smart-seq" "Joubert syndrome 36" "embryonic stem cell" @@ -52125,8 +52117,8 @@ "neuron" "TBP-105Q" "aortic disease" - "prokineticin-2" "obsolete_renal artery" + "prokineticin-2" "hypophosphatemic rickets, X-linked recessive" "endometrioid tumor" "Toll-like receptor 5" @@ -52210,8 +52202,8 @@ "apoptosis-associated speck-like protein containing a CARD" "SKMC" "probable RNA-binding protein 23" - "giant axonal neuropathy 2" "fenazaquin" + "giant axonal neuropathy 2" "cholesteryl ester 14:0 measurement"@en "proton-transporting ATP synthase complex" "obsolete_spondyloepimetaphyseal dysplasia, Bieganski type" @@ -52254,10 +52246,10 @@ "E3 ubiquitin-protein ligase HECW1" "embryonal carcinoma cell" "pseudohypoaldosteronism type 2D" - "Disorder of branched-chain amino acid metabolism" "obsolete_rhombomere 3" "pseudo-bulk aggregation of single-cell ATAC-seq data" "HCEC 2CT" + "Disorder of branched-chain amino acid metabolism" "1-linolenoylglycerol (18:3) measurement" "GM3 ganglioside measurement" "HG03521" @@ -52271,8 +52263,8 @@ "level of GTP cyclohydrolase 1 in blood serum" "cone dystrophy" "level of mediator of RNA polymerase II transcription subunit 28 in blood serum" - "Epinephelus tauvina" "Gaucher disease" + "Epinephelus tauvina" "myristoleate" "mosaic trisomy 20" "Allergy" @@ -52285,12 +52277,12 @@ "hyperinsulinemic hypoglycemia, familial, 1" "obsolete_5q14.3 microdeletion syndrome" "glucosamine-6-phosphate isomerase 1 measurement" - "1-palmitoyl-2-arachidonoyl-GPI (16:0/20:4) measurement" "hypertrophic cardiomyopathy 6" - "iPS-18a" + "1-palmitoyl-2-arachidonoyl-GPI (16:0/20:4) measurement" "deoxycytidylate deaminase" "MCF12A" "Lattice retinal degeneration" + "iPS-18a" "level of alanine--glyoxylate aminotransferase in blood serum" "Sickle cell - hemoglobin C disease" "gastrula stage" @@ -52302,12 +52294,12 @@ "level of farnesyl pyrophosphate synthase in blood serum" "aortic vascular smooth muscle cell calcification measurement" "Ralstonia syzygii" + "glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2" "lymphangiectasis" "Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma" - "glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2" + "PRKCA-binding protein" "A-375P"@en "14-3-3 protein epsilon measurement" - "PRKCA-binding protein" "ubiquitin-like modifier-activating enzyme 6" "immature CD1a-positive dermal dendritic cell" "stabilin-1" @@ -52354,12 +52346,12 @@ "obsolete plastid part" "cranial ganglion" "hyper-IgE recurrent infection syndrome 1, autosomal dominant" - "splenic white pulp macrophage" "enzymatic dissociation" + "splenic white pulp macrophage" "disseminated" "split foot, unilateral" - "C9 carnitine measurement" "obsolete_congenital muscular dystrophy with intellectual disability" + "C9 carnitine measurement" "level of tumor protein p53-inducible protein 13 in blood serum" "slit and ntrk-like protein 5 measurement" "obsolete_neurometabolic disease" @@ -52421,9 +52413,9 @@ "obsolete_partial duplication of chromosome 3" "obsolete_pericardium" "gastric neuroendocrine tumor, well differentiated, low or intermediate grade" - "Intermediate osteopetrosis" "tyrosine-protein phosphatase non-receptor type 13" "Sotos syndrome" + "Intermediate osteopetrosis" "CAL851" "Cavernous Hemangioma" "tachypnea" @@ -52481,9 +52473,9 @@ "Brugada syndrome 9" "level of tumor protein D53 in blood serum" "cranial nerve malignant neoplasm" - "inborn disorder of the gamma-glutamyl cycle" "fibroepithelial polyp" "Pseudomonas syringae pv. phaseolicola" + "inborn disorder of the gamma-glutamyl cycle" "level of corticoliberin in blood serum" "parthenolide" "fetal liver hematopoietic progenitor cell" @@ -52494,10 +52486,10 @@ "obsolete_spondyloepiphyseal dysplasia tarda, Kohn type" "obese body mass index status" "obsolete_Farber lipogranulomatosis" - "linoleate (18:2n6) measurement" "IGF-1 measurement" - "SLAM family member 1" + "linoleate (18:2n6) measurement" "indole-3-acetic-acid-O-glucuronide measurement" + "SLAM family member 1" "level of CCR4-NOT transcription complex subunit 1 in blood serum" "regulation of sensory perception of pain" "obsolete_non-syndromic male infertility due to sperm motility disorder" @@ -52507,11 +52499,11 @@ "mucoepidermoid esophageal carcinoma" "agammaglobulinemia" "Ras-related protein Rab-7b" + "metalloproteinase inhibitor 4 measurement" "gastrotropin" "level of far upstream element-binding protein 3 in blood serum" - "metalloproteinase inhibitor 4 measurement" - "level of GTP-binding protein SAR1b in blood serum" "X-12719 measurement" + "level of GTP-binding protein SAR1b in blood serum" "Coma" "level of TATA-binding protein-associated factor 2N in blood serum" "(2R,3S)-EHNA hydrochloride" @@ -52528,14 +52520,14 @@ "tyrosine-protein phosphatase non-receptor type substrate 1 measurement" "obsolete_rigid spine syndrome" "childhood immature teratoma of ovary" - "Burkholderia multivorans" "apolipoprotein B-100" - "obsolete_neurofibromatosis type II" + "Burkholderia multivorans" "obsolete_partial duplication of the short arm of chromosome 1" - "BL-3" + "obsolete_neurofibromatosis type II" "vitreous detachment" - "forkhead box protein P3" + "BL-3" "minimal erythema dose" + "forkhead box protein P3" "phosphatidylcholine O-36:1" "familial congenital nasolacrimal duct obstruction" "level of sorcin in blood serum" @@ -52615,7 +52607,6 @@ "colon adenocarcinoma" "level of beta-1,3-galactosyltransferase 2 in blood serum" "Plasmopara viticola" - "Multiple sulfatase deficiency" "obsolete_autosomal dominant limb-girdle muscular dystrophy type 1G" "complement C1q-like protein 4 measurement" "triglycerides in large LDL measurement " @@ -52623,6 +52614,7 @@ "alcohol-induced disorders" "protein disulfide-isomerase A2" "polydactyly, postaxial, type A6" + "Multiple sulfatase deficiency" "cerebral artery" "pigmented nodular adrenocortical disease, primary, 1" "benign familial mesial temporal lobe epilepsy" @@ -52649,14 +52641,14 @@ "osteogenesis imperfecta type 4" "self-healing collodion baby" "myeloperoxidase (MPO)-DNA complex measurement"@en - "obsolete_nucleus of terminal stria" - "hereditary sensory and autonomic neuropathy type 1" "Peroxisome biogenesis disorder-Zellweger syndrome spectrum" - "iatrogenic Kaposi's sarcoma" + "obsolete_nucleus of terminal stria" "obsolete_combined deficiency of factor V and factor VIII" + "hereditary sensory and autonomic neuropathy type 1" "1-stearoyl-GPC (18:0) measurement" - "secretagogin" + "iatrogenic Kaposi's sarcoma" "tsA-201" + "secretagogin" "partial deletion of the long arm of chromosome 2" "Chest pain" "143B" @@ -52695,10 +52687,10 @@ "Macrothrombocytopenia" "paired immunoglobulin-like type 2 receptor beta" "level of 5alpha-pregnane-3beta,20alpha-diol disulfate in blood" - "obsolete_mitochondrial DNA maintenance syndrome" "growth factor receptor-bound protein 14 measurement" - "growth differentiation factor 15 measurement" + "obsolete_mitochondrial DNA maintenance syndrome" "Leishmania chagasi" + "growth differentiation factor 15 measurement" "obsolete_anterior endoderm anlage" "obsolete_Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons" "ornithine decarboxylase antizyme 1 measurement" @@ -52769,8 +52761,8 @@ "Haloferax volcanii" "NOR1/Lt"@en "afebrile" - "obsolete_mesenchyme derived from head mesoderm" "retinoschisin" + "obsolete_mesenchyme derived from head mesoderm" "premature ovarian failure 18" "level of signal transducer and activator of transcription 5b in blood serum" "CS57876" @@ -52783,9 +52775,9 @@ "Piscirickettsiaceae Infections" "Spinocerebellar ataxia - dysmorphism" "mucolipidosis type II" + "X-linked intellectual disability, Zorick type" "X-17325 measurement" "level of endoplasmic reticulum membrane sensor NFE2L1 in blood serum" - "X-linked intellectual disability, Zorick type" "lysophosphatidylcholine 18:2" "Lactobacillus parabuchneri" "megalencephaly-polydactyly syndrome" @@ -52814,10 +52806,10 @@ "obsolete sudden infant death syndrome" "ankyrin repeat and SOCS box protein 9" "short-term memory" + "susceptibility to strep throat measurement" "obsolete_muscle" "Mycobacterium bovis BCG str. Pasteur 1173P2" "receptor-interacting serine/threonine-protein kinase 4" - "susceptibility to strep throat measurement" "level of transcriptional activator MN1 in blood" "level of neuritin-like protein in blood serum" "femoral neck bone geometry" @@ -52963,16 +52955,16 @@ "HFL1" "obsolete_seq library selection flag" "short rib-polydactyly syndrome" - "array manufacturer" "zinc finger protein 410 measurement" + "array manufacturer" "SK-N-SH_RA" "obsolete_embryoid body" "threonine--tRNA ligase 1, cytoplasmic" "Panicum virgatum" "level of zinc finger CCHC domain-containing protein 17 in blood serum" "mesoderm development candidate 2" - "level of protein LEG1 homolog in blood" "small intestinal fibrosarcoma" + "level of protein LEG1 homolog in blood" "level of neurofilament light polypeptide in blood" "FlowSeq" "level of septin-7 in blood" @@ -53031,10 +53023,10 @@ "mature CD1a-positive dermal dendritic cell" "3-hydroxydodecanedioate measurement" "lysophosphatidylcholine 17:0 measurement" - "HG03558" "right" - "musculoskeletal system disease" + "HG03558" "obsolete_endocrine system component" + "musculoskeletal system disease" "GM17167" "X-linked diffuse leiomyomatosis-Alport syndrome" "FU-OV-1" @@ -53050,8 +53042,8 @@ "causalgia" "ovary rhabdomyosarcoma" "colorectal cancer, susceptibility to, 3" - "level of myosin light chain 4 in blood serum" "Intervertebral Disc Displacement" + "level of myosin light chain 4 in blood serum" "DnaJ homolog subfamily B member 9 measurement" "type IV hypersensitivity disease" "1-stearoyl-2-linoleoyl-GPI (18:0/18:2) measurement" @@ -53088,9 +53080,9 @@ "level of carcinoembryonic antigen-related cell adhesion molecule 20 in blood" "phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2" "unspecified juvenile idiopathic arthritis" - "Abnormally high-pitched voice" "level of lipocalin-15 in blood" "level of Phosphatidylcholine (18:0_20:2) in blood serum" + "Abnormally high-pitched voice" "GM17260" "glycerophosphoglycerol" "cDNA read size" @@ -53133,8 +53125,8 @@ "glottis carcinoma" "cubilin" "congenital Gerbode defect" - "obsolete_Malpighian tubule main body primordium" "C36:4 phosphatidylcholine-A measurement" + "obsolete_Malpighian tubule main body primordium" "response to tenofovir" "Abnormality of the urinary system" "obsolete_pericardial and diaphragmatic defect" @@ -53199,8 +53191,8 @@ "Fast-ATAC" "level of exocyst complex component 7 in blood serum" "dual specificity protein phosphatase 3 measurement" - "lipopolysaccharide-binding protein measurement" "isolated cleft lip" + "lipopolysaccharide-binding protein measurement" "Fabry disease" "presumptive segmental plate" "tetradecenoylcarnitine meaasurement"@en @@ -53229,8 +53221,8 @@ "cysteinylglycine disulfide measurement" "combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2" "night blindness" - "T-WGBS" "obsolete_fatty acid hydroxylase-associated neurodegeneration" + "T-WGBS" "facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome" "facial dermatosis" "nerve plexus neoplasm" @@ -53271,8 +53263,8 @@ "R46" "1-palmitoyl-2-oleoyl-GPI (16:0/18:1) measurement" "obsolete_familial atrial fibrillation" - "insulin like growth factor measurement" "azelate (C9-DC) measurement" + "insulin like growth factor measurement" "C4b-binding protein alpha chain" "familial cold autoinflammatory syndrome 1" "hepatic porphyria" @@ -53308,11 +53300,11 @@ "stomatal complex" "U1 small nuclear ribonucleoprotein A measurement" "CS57908" + "X-21845 measurement" "apolipoprotein B receptor" "COV413A" - "X-21845 measurement" - "pulmonary alveolar type 2 cell" "obsolete_acrocephalosyndactylia" + "pulmonary alveolar type 2 cell" "obsolete_endocardium" "vulvitis" "phosphatidylcholine O-36:0" @@ -53338,9 +53330,9 @@ "SKUT1" "obsolete_Verloove Vanhorick-Brubakk syndrome" "obsolete_distal 17p13.1 microdeletion syndrome" - "X-11786--methylcysteine measurement" "level of C-type lectin domain family 1 member A in blood" "disseminated candidiasis" + "X-11786--methylcysteine measurement" "congenital anomaly of the great arteries" "Safe-SeqS" "spinal muscular atrophy, type IV" @@ -53477,12 +53469,12 @@ "protein N-terminal glutamine amidohydrolase" "obsolete_complete cryptophthalmia" "thalamic cancer" - "Retinal Neoplasm" "taurolithocholate 3-sulfate measurement" "chromosome 16p11.2 duplication syndrome" "level of protein CutA in blood serum" "HCN-1A"@en "level of E3 ubiquitin-protein ligase CBL-C in blood serum" + "Retinal Neoplasm" "acute myeloid leukemia, t(9;22)(q34.1;q11.2)" "level of superoxide dismutase [Mn], mitochondrial in blood serum" "level of aminoglycoside phosphotransferase domain-containing protein 1 in blood serum" @@ -53545,8 +53537,8 @@ "Infantile onset" "protein ripply1" "visceral neuropathy, familial, 1, autosomal recessive" - "Capture-C" "GM12761" + "Capture-C" "acute gonococcal cervicitis" "upper limb hypertrophy" "myelin P0 protein" @@ -53568,13 +53560,13 @@ "enthesis" "Jun dimerization protein 2" "obsolete_gastric fundus" + "calsenilin measurement" "nipple neoplasm" "branchiootic syndrome" + "interleukin-17A measurement" "colorblindness, partial" - "calsenilin measurement" - "interleukin 1 receptor antagonist measurement" "follistatin measurement"@en - "interleukin-17A measurement" + "interleukin 1 receptor antagonist measurement" "obsolete_hyperopia" "fumarate(2-)" "pro-MCH" @@ -53590,9 +53582,9 @@ "astacin-like metalloendopeptidase measurement" "peroxisome biogenesis disorder" "stigmasterol" + "obsolete_osteocraniostenosis" "GM17254" "level of RNA-binding Raly-like protein in blood serum" - "obsolete_osteocraniostenosis" "obsolete_Disorder of peroxisomal alpha-, beta- and omega-oxidation" "obsolete_10x v3" "EEF1A lysine methyltransferase 1" @@ -53645,15 +53637,15 @@ "level of leukocyte-specific transcript 1 protein in blood serum" "level of protein enabled in blood serum" "obsolete_seq instrument model flag" - "biomaterial provider" "obsolete_proximal symphalangism" + "biomaterial provider" "TH-1" "level of 39S ribosomal protein L1, mitochondrial in blood serum" "ventricular septal defect" "Jeune syndrome" - "X-17351 measurement" "X-linked intellectual disability - ataxia - apraxia" "obsolete_Senior-Loken syndrome" + "X-17351 measurement" "interleukin-17 receptor D measurement" "Abnormal anterior fontanelle morphology" "WD repeat-containing protein 48" @@ -53676,29 +53668,29 @@ "pulmonary hypertension, primary, 1" "skeletal dysplasia-epilepsy-short stature syndrome" "lice infestation" + "cancer antigen 19.9 measurement"@en "sphenoid bone" "polyendocrinopathy" - "cancer antigen 19.9 measurement"@en "autosomal recessive limb-girdle muscular dystrophy type 2K" "obsolete qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase" "cerebral peduncle" "spermatogenic failure 55" - "variable charge X-linked protein 3" "obsolete_Young syndrome" + "obsolete_partial trisomy/tetrasomy of chromosome 5" + "variable charge X-linked protein 3" "level of deubiquitinase OTUD6B in blood" "glycogen storage disease due to glucose-6-phosphatase deficiency type IA" "Kyphoscoliosis" - "obsolete_partial trisomy/tetrasomy of chromosome 5" "hidrotic ectodermal dysplasia, Halal type" "Conjunctivitis" "ADAMTS-like protein 5" "ADP-ribosylation factor-like protein 1 measurement" "thin ribs-tubular bones-dysmorphism syndrome" "zinc finger protein 415 measurement" - "obsolete_Weill-Marchesani syndrome" "level of hemoglobin subunit gamma-2 in blood serum" "extrahepatic bile duct rhabdomyosarcoma" "level of calsenilin in blood serum" + "obsolete_Weill-Marchesani syndrome" "amisulpride" "obsolete_slow muscle cell somite 1" "level of AN1-type zinc finger protein 1 in blood serum" @@ -53720,11 +53712,11 @@ "3-Indolepropionic acid to L-Tyrosine ratio" "IHCF" "genotyping" - "Syndrome with 46,XX disorder of sex development" "level of cathepsin O in blood serum" "obsolete_fibular hemimelia, bilateral" "cisplatin" "central core myopathy" + "Syndrome with 46,XX disorder of sex development" "3-hydroxylaurate" "intracranial subdural hematoma" "DnaJ homolog subfamily C member 17 measurement" @@ -53749,15 +53741,15 @@ "neoplasm of oropharynx" "CD16-positive myeloid dendritic cell" "inverted transitional cell papilloma" - "secretoglobin family 1D member 1" "level of prostasin in blood serum" + "secretoglobin family 1D member 1" "Oy-0" "bacillaceae seropositivity" "lymphocyte" "mitogen-activated protein kinase 8 measurement" + "obsolete_partial trisomy of the long arm of chromosome 9" "microsecond" "Hemiparesis" - "obsolete_partial trisomy of the long arm of chromosome 9" "pancreatic insufficiency-anemia-hyperostosis syndrome" "primary adrenal insufficiency" "level of sperm-associated antigen 11A in blood serum" @@ -53799,9 +53791,9 @@ "Goniodysgenesis" "level of Phosphatidylcholine (18:0_20:3) in blood serum" "sodium/potassium-transporting ATPase subunit gamma" - "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation" "level of Tax1-binding protein 1 in blood serum" "spindle" + "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation" "obsolete_qualitative or quantitative defects of alpha-sarcoglycan" "cell barcode read" "imidazolium cation" @@ -53982,8 +53974,8 @@ "retinal cone cell" "calcineurin B homologous protein 3 measurement" "choroid neoplasm" - "ventricular fibrillation" "CD5 measurement" + "ventricular fibrillation" "GM17209" "Emiliania huxleyi CCMP1516" "Abdominal pain" @@ -54001,9 +53993,9 @@ "mucopolysaccharidosis type 4B" "substantia nigra" "obsolete_oculodental syndrome, Rutherfurd type" + "lumbar puncture" "anoxya" "lysophosphatidylcholine 20:5" - "lumbar puncture" "in situ carcinoma" "obsolete_neonatal severe primary hyperparathyroidism" "level of next to BRCA1 gene 1 protein in blood serum" @@ -54026,8 +54018,8 @@ "idiopathic CD4 lymphocytopenia" "level of procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 in blood serum" "V-set and transmembrane domain-containing protein 1" - "liver fibrosis measurement"@en "injury design" + "liver fibrosis measurement"@en "childhood aggressive behaviour measurement" "obsolete_isolated congenital digital clubbing" "ceroid lipofuscinosis, neuronal, 6B (Kufs type)" @@ -54064,8 +54056,8 @@ "X-11787 measurement" "obsolete_rhombomere 2" "blood N(1)-acetylspermidine measurement" - "Testicular Sclerosing Sertoli Cell Tumor" "lymphatic malformation 5" + "Testicular Sclerosing Sertoli Cell Tumor" "octadecanoids measurement" "Clostridium sporogenes" "congenital heart defects, multiple types, 7" @@ -54082,12 +54074,12 @@ "obsolete_Progressive myoclonic epilepsy type 5" "familial hypercholesterolemia" "sensorineural hearing loss-early graying-essential tremor syndrome" + "obsolete_beta-thalassemia and related diseases" "acute myeloid leukemia, t(7;12)(q36;p13)" "Locusta migratoria manilensis" - "obsolete_beta-thalassemia and related diseases" "fibroepithelial polyp of the anus" - "level of segment polarity protein dishevelled homolog DVL-2 in blood serum" "P-Selectin measurement" + "level of segment polarity protein dishevelled homolog DVL-2 in blood serum" "multiple epiphyseal dysplasia, Lowry type" "X-linked ichthyosis syndrome" "limb transversal defect-cardiac anomaly syndrome" @@ -54115,10 +54107,10 @@ "acute myeloid leukemia, MLL gene rearrangement" "ethionamide" "dermokine" + "household income" "ubiquitin carboxyl-terminal hydrolase 46" "Pfeiffer" "Delpire-McNeill syndrome" - "household income" "cutaneous mastocytosis" "Capp-Seq" "cyclophosphamide hydrate" @@ -54206,9 +54198,9 @@ "Posteriorly placed tongue" "Simpson-Golabi-Behmel syndrome type 2" "obsolete_partial deletion of the long arm of chromosome 6" + "Microspherophakia - metaphyseal dysplasia" "whole genome shotgun sequencing" "palindromic rheumatism" - "Microspherophakia - metaphyseal dysplasia" "foot-and-mouth disease virus seropositivity" "peptidyl-prolyl cis-trans isomerase D measurement" "obsolete_C57BL/6J" @@ -54228,13 +54220,13 @@ "level of bone morphogenetic protein 3B in blood serum" "obsolete_amelia of upper limb, unilateral" "level of neurensin-1 in blood serum" - "obsolete_Muir-Torre syndrome" "Kapur-Toriello syndrome" + "obsolete_Muir-Torre syndrome" "mercury poisoning" "dual specificity protein phosphatase 4 measurement" - "allergic sensitization measurement" "obsolete_meningioma" "prostate cancer" + "allergic sensitization measurement" "pilodental dysplasia-refractive errors syndrome" "carcinoembryonic antigen-related cell adhesion molecule 19" "secreted protein identification design" @@ -54244,14 +54236,14 @@ "autosomal recessive nonsyndromic hearing loss 102" "4-methylguaiacol sulfate measurement" "protein eva-1 homolog C measurement" - "acute myeloid leukemia, inv(16)(p13.3;q24.3)" "18S rRNA aminocarboxypropyltransferase" + "acute myeloid leukemia, inv(16)(p13.3;q24.3)" "congenital myopathy with cores" "cardiac troponin I measurement" "isolated anhidrosis with normal sweat glands" "semaphorin-6D" - "Colon Inflammatory Polyp" "PL45" + "Colon Inflammatory Polyp" "pathological complete response" "Capture-HiC" "UCSF4" @@ -54294,8 +54286,8 @@ "lower limb hypertrophy" "myelin protein zero-like protein 1" "acute cor pulmonale" - "Glomus Jugulare Tumor" "diacylglycerol 44:7 measurement" + "Glomus Jugulare Tumor" "3 hr schistosomulum" "level of proteasome subunit beta type-6 in blood serum" "CD166 antigen measurement" @@ -54305,8 +54297,8 @@ "Luo-Schoch-Yamamoto syndrome" "p-cresol sulfate" "splicing factor U2AF 65 kDa subunit measurement" - "histone-lysine N-methyltransferase ASH1L" "adult cerebellar neoplasm" + "histone-lysine N-methyltransferase ASH1L" "nectin-4" "Neonatal sepsis" "serine/threonine-protein kinase Pim-2" @@ -54365,8 +54357,8 @@ "NAD-dependent protein deacetylase sirtuin-1" "embryonic cell line" "intellectual disability-expressive aphasia-facial dysmorphism syndrome" - "level of amiloride-sensitive amine oxidase [copper-containing] in blood serum" "hepatitis A virus infection" + "level of amiloride-sensitive amine oxidase [copper-containing] in blood serum" "rhegmatogenous retinal detachment" "PLATE-Seq" "glycine amidinotransferase, mitochondrial" @@ -54451,9 +54443,9 @@ "malignant pleural solitary fibrous tumor" "central neurocytoma" "Osteopetrosis" + "Calvarial doughnut lesions - bone fragility" "isolated noncompaction of the ventricular myocardium" "DnaJ homolog subfamily C member 30 measurement" - "Calvarial doughnut lesions - bone fragility" "complement factor H-related protein 5 measurement" "level of protein-tyrosine sulfotransferase 2 in blood serum" "prostate derived cell line" @@ -54564,19 +54556,19 @@ "level of protein Jumonji in blood serum" "bronchial disease" "CD244 measurement" - "obsolete_unknown leukodystrophy" - "hand dermatosis" "level of beta-1,4-galactosyltransferase 2 in blood serum" + "hand dermatosis" + "obsolete_unknown leukodystrophy" "level of glutamate--cysteine ligase regulatory subunit in blood serum" "Hypocrea virens" "hyaluronan and proteoglycan link protein 4" "level of gem-associated protein 7 in blood serum" "3-Indolepropionic acid to Phenylpyruvic acid ratio" - "Syndromic developmental defect of the eye" - "H157" "Methanobrevibacter smithii ATCC 35061" "neuroligin-1" + "Syndromic developmental defect of the eye" "isovaleric acidemia" + "H157" "methylation profiling" "type III endosome membrane protein TEMP" "5-methyluridine (ribothymidine) measurement"@en @@ -54644,9 +54636,9 @@ "obsolete_Congenital blindness due to retinal non-attachment" "level of G protein-coupled receptor kinase 5 in blood" "Drug- or toxin-induced pulmonary arterial hypertension" - "obsolete_acromegaloid facial appearance syndrome" "PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome" "autosomal dominant nonsyndromic hearing loss 65" + "obsolete_acromegaloid facial appearance syndrome" "lymphoma" "obsolete_Charcot-Marie-Tooth disease type 4C" "obsolete_Richieri Costa-da Silva syndrome" @@ -54677,8 +54669,8 @@ "mesomelic dysplasia, Kantaputra type" "licoagrodin measurement" "level of tryptophan--tRNA ligase, cytoplasmic in blood serum" - "Visium Spatial Gene Expression" "asphyxia" + "Visium Spatial Gene Expression" "sphingomyelin 24:0" "sorting and assembly machinery component 50" "X-13435 measurement" @@ -54686,17 +54678,17 @@ "Subdural hemorrhage" "X-linked intellectual disability-psychosis-macroorchidism syndrome" "follow-up status" + "carbonic anhydrase 5B, mitochondrial" "autosomal dominant nocturnal frontal lobe epilepsy" "level of trans-acting T-cell-specific transcription factor GATA-3 in blood" "obsolete_chordotonal organ" "proximal spinal muscular atrophy" - "carbonic anhydrase 5B, mitochondrial" "N-allyl-1-phenyl-2,3,4,5-tetrahydro-3-benzazepine-7,8-diol hydrobromide" "root apical meristem" "obsolete congenital enteropathy involving intestinal mucosa development" "obsolete_autosomal dominant hyperinsulinism due to SUR1 deficiency" - "obsolete polygonal cell" "X-12729 measurement" + "obsolete polygonal cell" "LY2" "Saos-2 cell" "Abnormal choroid morphology" @@ -54779,6 +54771,7 @@ "level of exosome complex component RRP40 in blood serum" "cryptomicrotia-brachydactyly-excess fingertip arch syndrome" "Central polydactyly of toes, bilateral" + "beta-tocopherol measurement" "N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase" "mediastinal mesenchymal tumor" "pre-mRNA-processing factor 19" @@ -54786,9 +54779,8 @@ "behavioural inhibitory control measurement" "obsolete congenital cornea plana" "presumptive neural plate" - "beta-tocopherol measurement" - "SEC14 domain and spectrin repeat-containing protein 1" "tumor necrosis factor receptor superfamily member 1B measurement"@en + "SEC14 domain and spectrin repeat-containing protein 1" "Microsporum distortum" "obsolete_lateral ethmoid" "ATP synthase subunit O; mitochondrial measurement" @@ -54823,8 +54815,8 @@ "level of cytoplasmic dynein 1 light intermediate chain 1 in blood serum" "particulate matter air pollution measurement" "overdose"@en - "cystoisosporiasis" "obsolete_genetic cardiac anomaly" + "cystoisosporiasis" "obsolete_neonatal epilepsy syndrome" "Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome" "kelch-like protein 3" @@ -54974,17 +54966,17 @@ "N-acetyl-L-aspartate(2-)" "amelia of upper limb, unilateral" "Ptosis - upper ocular movement limitation - absence of lacrimal punctum" + "obsolete_T-B+ severe combined immunodeficiency due to CD45 deficiency" "Hemoglobin SC Disease" "small ubiquitin-related modifier 2" "carcinoembryonic antigen-related cell adhesion molecule 20" "Rabson-Mendenhall syndrome" - "obsolete_T-B+ severe combined immunodeficiency due to CD45 deficiency" "Monteggia's fracture" "dynactin-associated protein measurement" - "global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome" + "toothache" "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" + "global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome" "level of protocadherin gamma-A12 in blood serum" - "toothache" "acute myeloid leukemia, t(11;15)(p15;q35)" "hereditary spastic paraplegia 48" "protein mago nashi" @@ -55009,8 +55001,8 @@ "Schnitzler syndrome" "mitochondrial DNA measurement" "ischio-vertebral syndrome" - "scavenger receptor class F member 2 measurement" "Rare disorder with dystonia and other neurologic or systemic manifestation" + "scavenger receptor class F member 2 measurement" "ITM-E6E7-ST" "signal-transducing adaptor protein 1" "autoimmune disorder of cardiovascular system" @@ -55058,8 +55050,8 @@ "bubonic plague" "protein CutA" "sweat gland adenoma" - "level of S-adenosylhomocysteine hydrolase-like protein 1 in blood serum" "OVISE" + "level of S-adenosylhomocysteine hydrolase-like protein 1 in blood serum" "obsolete_adamantinoma" "Joubert syndrome 10" "obsolete_occipital lateral line neuromast" @@ -55079,9 +55071,9 @@ "Joubert syndrome" "mucolipidosis type IV" "combined immunodeficiency with skin granulomas" + "X-17354 measurement" "atrial natriuretic factor measurement" "level of B-cell antigen receptor complex-associated protein alpha chain in blood serum" - "X-17354 measurement" "homeobox protein CDX-1" "Hydrocephalus" "level of CUB and zona pellucida-like domain-containing protein 1 in blood serum" @@ -55090,9 +55082,9 @@ "Cerebellar malformation" "level of vinexin in blood serum" "spinocerebellar ataxia type 21" - "death-associated protein kinase 2 measurement" "level of dysbindin domain-containing protein 2 in blood serum" "level of aldo-keto reductase family 1 member C4 in blood" + "death-associated protein kinase 2 measurement" "level of nicotinate phosphoribosyltransferase in blood" "Breast hypoplasia" "obsolete_46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency" @@ -55183,8 +55175,8 @@ "Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement" "obsolete_spinocerebellar ataxia type 36" "Onycho-patellar syndrome with eye involvement" - "No-0" "MURCS association" + "No-0" "pantothenate metabolic process" "triploid" "level of FUN14 domain-containing protein 1 in blood serum" @@ -55270,8 +55262,8 @@ "Forceps delivery" "periodic fever, immunodeficiency, and thrombocytopenia syndrome" "adseverin measurement" - "total stigmasterol measurement"@en "ribosomal protein S6 kinase beta-2" + "total stigmasterol measurement"@en "central nervous system leiomyoma" "obsolete_anauxetic dysplasia" "obsolete_pelvis" @@ -55322,8 +55314,8 @@ "ciliary dyskinesia, primary, 43" "craniofrontonasal dysplasia-Poland anomaly syndrome" "level of break repair meiotic recombinase recruitment factor 1 in blood" - "orbit embryonal rhabdomyosarcoma" "azurocidin measurement" + "orbit embryonal rhabdomyosarcoma" "1-docosahexaenoylglycerol (22:6) measurement" "retinol measurement" "lysophosphatidylcholine 19:0 measurement" @@ -55334,14 +55326,14 @@ "obsolete_metaphyseal chondrodysplasia, Kaitila type" "bird fancier's lung" "3-Indolepropionic acid to L-Ornithine ratio" + "Congenital absence of upper arm and forearm with hand present, unilateral" "membrane-associated progesterone receptor component 1 measurement" "CB4853" + "central pontine myelinolysis" "PRIESS" "metabolomic profiling" "spartin" "Joubert syndrome with Jeune asphyxiating thoracic dystrophy" - "Congenital absence of upper arm and forearm with hand present, unilateral" - "central pontine myelinolysis" "extraskeletal myxoid chondrosarcoma" "doublesex- and mab-3-related transcription factor C2" "ketimine reductase mu-crystallin" @@ -55366,12 +55358,13 @@ "pediatric infratentorial ependymoblastoma" "Hemoglobin A1 to Total Hemoglobin Ratio Measurement" "tag based single cell RNA sequencing" - "esophagus muscularis mucosa" "level of peptidyl-prolyl cis-trans isomerase-like 3 in blood serum" + "esophagus muscularis mucosa" "claudin-1" "staurosporine" "submandibular adenitis" "obsolete_partial deletion of chromosome 19" + "obsolete_Timothy syndrome" "obsolete_Cronkhite-Canada syndrome" "protein sprouty homolog 1 measurement" "Trilogy of Fallot" @@ -55380,7 +55373,6 @@ "great vessel cancer" "obsolete_Bangstad syndrome" "Arf-GAP domain and FG repeat-containing protein 1" - "obsolete_Timothy syndrome" "insulin-induced gene 1 protein" "intellectual developmental disorder and retinitis pigmentosa; IDDRP" "level of SUN domain-containing protein 5 in blood serum" @@ -55539,17 +55531,17 @@ "ascorbic acid 2-sulfate measurement" "pro-opiomelanocortin measurement" "xaa‐pro aminopeptidase 2 measurement"@en - "obsolete_mandibular muscle" "CCL17 measurement" + "obsolete_mandibular muscle" "microcephaly-brachydactyly-kyphoscoliosis syndrome" "orbitofrontal cortex" "tumor necrosis factor alpha-induced protein 8-like protein 2" "circadian rhythm" "extra-ocular muscle" "congenital analbuminemia" + "immature reticulocyte measurement" "glycoprotein" "neuroendocrine disorder" - "immature reticulocyte measurement" "crystal arthropathy" "level of neurabin-2 in blood" "SLAM family member 9" @@ -55627,8 +55619,8 @@ "obsolete_pauciarticular juvenile rheumatoid arthritis" "SNU16" "Autosomal recessive spastic paraplegia type 57" - "Unclassified primitive or secondary maculopathy" "guanylate-binding protein 2" + "Unclassified primitive or secondary maculopathy" "level of protein N-lysine methyltransferase METTL21D in blood" "Abnormal meniscus morphology" "obsolete_Madelung deformity, bilateral" @@ -55642,19 +55634,19 @@ "obsolete syndromic ankyloblepharon" "NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial measurement" "hepatitis C virus seropositivity" - "triacylglycerol 52:3 measurement"@en "hypertrichosis of eyelid" "NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial" - "persulfide dioxygenase ETHE1, mitochondrial measurement" "OCI-AML3" "level of zinc finger protein 134 in blood serum" - "subacute sclerosing panencephalitis" + "triacylglycerol 52:3 measurement"@en "Intention tremor" + "persulfide dioxygenase ETHE1, mitochondrial measurement" "Dictyocaulus infectious disease" "IL.00 inflorescence just visible stage" "129S1/SvImJ" "level of Phosphatidylcholine (O-18:2_18:2) in blood serum" "Left atrial enlargement" + "subacute sclerosing panencephalitis" "behavioural disinhibition measurement" "level of transcriptional enhancer factor TEF-5 in blood serum" "triphalangeal thumbs-brachyectrodactyly syndrome" @@ -55670,21 +55662,21 @@ "obsolete_classic maple syrup urine disease" "oculocerebrofacial syndrome, Kaufman type" "benign neoplasm of major salivary gland" - "severe congenital hypochromic anemia with ringed sideroblasts" "myringosclerosis" - "E3 ubiquitin-protein ligase CBL measurement" + "severe congenital hypochromic anemia with ringed sideroblasts" "angiopoietin-related protein 7 measurement" + "E3 ubiquitin-protein ligase CBL measurement" "Salmonella enterica subsp. enterica serovar Pullorum" "acute myeloid leukemia, t(16;21)(q24;q22)" - "blood N-acetylasparagine measurement" "protein mago nashi homolog 2" "number of teeth measurement" "anovulation" - "foot muscle strength measurement" + "blood N-acetylasparagine measurement" "fish disease" + "foot muscle strength measurement" "CAST-ChIP" - "sitting height ratio" "RCM-1" + "sitting height ratio" "structural congenital heart disease, multiple types - GATA4" "lymphedema-distichiasis syndrome" "long QT syndrome 16" @@ -55944,8 +55936,8 @@ "obsolete_median fin skeleton" "myofibroblastoma" "obsolete_Congenital cataract, Volkmann type" - "level of proline-rich AKT1 substrate 1 in blood" "Corneoiridogoniodysgenesis" + "level of proline-rich AKT1 substrate 1 in blood" "level of nibrin in blood" "histiocytic sarcoma" "parachordal vessel" @@ -55954,8 +55946,8 @@ "level of beta-2-glycoprotein 1 in blood" "3-Indolepropionic acid to N-acetylglycine ratio" "hereditary amyloidosis" - "level of 3-ketoacyl-CoA thiolase, peroxisomal in blood serum" "Herpes simplex virus gingivostomatitis" + "level of 3-ketoacyl-CoA thiolase, peroxisomal in blood serum" "level of serpin H1 in blood" "Pol II CLIP" "level of large ribosomal subunit protein uL24m in blood" @@ -55967,8 +55959,8 @@ "coenzyme q10 deficiency, primary, 9" "Polycystic Kidney Disease" "ADP-ribosylation factor-like protein 3" - "EFM-192B" "obsolete_Frank-Ter Haar syndrome" + "EFM-192B" "X-23583 measurement" "Neurogenic arthrogryposis multiplex congenita" "hereditary spastic paraplegia 18" @@ -55997,9 +55989,9 @@ "Axin-2" "syndrome caused by partial chromosomal deletion" "level of seizure protein 6 in blood" - "level of 2-iminobutanoate/2-iminopropanoate deaminase in blood serum" "level of T-cell leukemia/lymphoma protein 1B in blood serum" "renal pelvis" + "level of 2-iminobutanoate/2-iminopropanoate deaminase in blood serum" "pharyngeal pouch 6" "N-acetylcitrulline" "gingival fibromatosis-hypertrichosis syndrome" @@ -56170,8 +56162,8 @@ "zinc finger and BTB domain-containing protein 10" "V-type proton ATPase subunit F" "Rare disease with dentinogenesis imperfecta" - "digital anomalies-intellectual disability-short stature syndrome" "level of cytochrome b5 reductase 4 in blood serum" + "digital anomalies-intellectual disability-short stature syndrome" "cataract 38" "troponin T, cardiac muscle" "histamine antagonist" @@ -56207,16 +56199,16 @@ "triglycerides in medium VLDL measurement" "hereditary papulotranslucent acrokeratoderma" "Complex chromosomal rearrangement" - "fallopian tube mucinous tumor" "urinary bladder, atony of" + "fallopian tube mucinous tumor" "CB4856" "C57BL/6-scid" "protein MRVI1 measurement" "secondary hyperparathyroidism of renal origin" - "obsolete_peeling skin syndrome" "SCC-9" "level of otoancorin in blood" "response to perphenazine" + "obsolete_peeling skin syndrome" "ND00259" "level of calcipressin-1 in blood serum" "non-Zellweger spectrum disorder" @@ -56267,8 +56259,8 @@ "Radio-Tartaglia syndrome" "erythrose measurement" "obsolete_Rothmund-Thomson syndrome" - "taurolithocholic acid sulfate" "obsolete_Melhem-Fahl syndrome" + "taurolithocholic acid sulfate" "electrocardiogram repolarisation abnormality"@en "obsolete familial mesial temporal lobe epilepsy with febrile seizures" "head mesenchyme" @@ -56334,8 +56326,8 @@ "transcription factor ATOH1" "type 1 diabetes mellitus 20" "hyperthyroxinemia" - "complement C1q and tumor necrosis factor-related protein 9A measurement" "RNA-seq of non coding RNA from single cells" + "complement C1q and tumor necrosis factor-related protein 9A measurement" "paracetamol sulfate" "colorectal tubulovillous adenoma" "Cervical hypertrichosis - peripheral neuropathy" @@ -56390,11 +56382,11 @@ "hepatitis E virus seropositivity" "phospholipase A2, membrane associated measurement" "triacylglycerol 52:4 measurement"@en - "obsolete_jejunum" "diffuse idiopathic skeletal hyperostosis" + "obsolete_jejunum" + "red wine liking measurement" "COMM domain-containing protein 5" "level of DDB1- and CUL4-associated factor 5 in blood serum" - "red wine liking measurement" "cataract-aberrant oral frenula-growth delay syndrome" "oligodendrocyte precursor cell" "urachal cyst" @@ -56425,8 +56417,8 @@ "sentrin-specific protease 1" "RI-1" "caudal tuberal nucleus" - "Sasang constitutional medicine type" "CATCH-IT" + "Sasang constitutional medicine type" "tryptase beta-2 measurement" "obsolete larynx anomaly" "congenital factor X deficiency" @@ -56441,8 +56433,8 @@ "fasting C-peptide measurement" "ITV" "level of dynein light chain roadblock-type 2 in blood serum" - "lignoceroylcarnitine (C24) measurement" "neurofilament light polypeptide" + "lignoceroylcarnitine (C24) measurement" "field study" "obsolete_childhood-onset epilepsy syndrome" "Nicotiana benthamiana" @@ -56483,8 +56475,8 @@ "level of tRNA (adenine-N(1)-)-methyltransferase non-catalytic subunit TRM6 in blood serum" "age of onset of type 1 diabetes mellitus" "obsolete_qualitative or quantitative defects of protein O-mannosyltransferase 1" - "obsolete_limb-mammary syndrome" "doxycycline" + "obsolete_limb-mammary syndrome" "ectropion" "COL4A1-related disorder" "level of adhesion G-protein coupled receptor D1 in blood" @@ -56497,8 +56489,8 @@ "level of peflin in blood serum" "collagen alpha-1(XIII) chain" "FISSEQ" - "level of NAD-dependent protein deacetylase sirtuin-3, mitochondrial in blood serum" "X-05907 measurement" + "level of NAD-dependent protein deacetylase sirtuin-3, mitochondrial in blood serum" "cysteine-rich protein 1" "free cholesterol in small HDL measurement " "emphysema pattern measurement" @@ -56553,11 +56545,11 @@ "brachial plexus neoplasm" "Rare hypothyroidism" "obsolete_juvenile primary lateral sclerosis" + "E3 ubiquitin-protein ligase RNF128 measurement" "Xylella fastidiosa 9a5c" "D-Arabinose measurement" "dentinogenesis imperfecta type 3" "Dyggve-Melchior-Clausen syndrome, X-linked" - "E3 ubiquitin-protein ligase RNF128 measurement" "eugenol sulfate measurement" "GM17108" "protein FAM151A measurement" @@ -56617,8 +56609,8 @@ "submaxillary gland androgen-regulated protein 3B measurement" "level of protein HEXIM1 in blood" "unilateral polymicrogyria" - "obsolete_adenine phosphoribosyltransferase deficiency" "inflammatory skin and bowel disease, neonatal, 2" + "obsolete_adenine phosphoribosyltransferase deficiency" "Central nervous system calcification - deafness - tubular acidosis - anemia" "level of perilipin-1 in blood" "obsolete_oculocutaneous or ocular albinism" @@ -56629,8 +56621,8 @@ "level of ADP-ribosylation factor-like protein 11 in blood serum" "obsolete_parotid gland" "obsolete_Naegeli-Franceschetti-Jadassohn syndrome" - "pappalysin‐1 measurement"@en "carbohydrate sulfotransferase 14 measurement" + "pappalysin‐1 measurement"@en "secreted frizzled-related protein 1 measurement" "scrotal carcinoma" "obsolete_response to high-dose melphalan" @@ -56655,14 +56647,14 @@ "3-hydroxyisobutyric aciduria" "Cyanophage S-BnM1" "obsolete_carpotarsal osteochondromatosis" - "Vulvar Squamous Cell Carcinoma" "3beta,7alpha-dihydroxy-5-cholestenoate measurement" + "Vulvar Squamous Cell Carcinoma" "obsolete_Joubert syndrome" "level of complement C1q tumor necrosis factor-related protein 4 in blood serum" "glutamate receptor ionotropic, delta-1" "GM17117" - "diazepam" "trichorhinophalangeal syndrome type I or III" + "diazepam" "1p36 deletion syndrome" "Dicentrarchus labrax" "desmoplastic melanoma" @@ -56769,8 +56761,8 @@ "thioredoxin-dependent peroxide reductase, mitochondrial" "3MC syndrome" "carbohydrate sulfotransferase 5 measurement" - "T47D:A18" "dehydroepiandrosterone sulphate measurement" + "T47D:A18" "level of cullin-4B in blood serum" "obsolete periodic paralysis with transient compartment-like syndrome" "Congenital absence of upper arm and forearm with hand present, bilateral" @@ -56787,8 +56779,8 @@ "trunk neural crest" "peripheral vein" "aminoacylase activity" - "level of vacuolar protein sorting-associated protein 4A in blood serum" "arthritis disease activity score measurement" + "level of vacuolar protein sorting-associated protein 4A in blood serum" "neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction" "spermatogenic failure 49" "orbital fracture" @@ -56798,19 +56790,18 @@ "autosomal recessive limb-girdle muscular dystrophy type 2E" "iron ion transmembrane transporter activity" "material supplier role"@en - "material supplier role" "Hemoglobin A2 to Total Hemoglobin Ratio Measurement" "Ocular Melanoma" "level of muscarinic acetylcholine receptor M1 in blood" "Bifidobacterium longum" "bacteroidales seropositivity" - "childhood brainstem astrocytoma" "protein transport protein Sec61 subunit gamma measurement" + "Visium CytAssist Spatial Gene Expression V2"@en + "childhood brainstem astrocytoma" "Abnormality of the dentition" "Kn-0" - "Visium CytAssist Spatial Gene Expression V2"@en - "Emery-Dreifuss muscular dystrophy 4, autosomal dominant" "leukocyte esterase measurement" + "Emery-Dreifuss muscular dystrophy 4, autosomal dominant" "partial deletion of the long arm of chromosome X" "infiltrating urothelial carcinoma" "choroid mixed cell melanoma" @@ -56855,10 +56846,10 @@ "NCI-H2803" "nephrolithiasis" "Abnormal frontal bone morphology" - "Secondary glaucoma due to a proliferation and differentiation anomaly" "technician" - "obsolete_colorectal cancer" + "Secondary glaucoma due to a proliferation and differentiation anomaly" "acquired pituitary hormone deficiency" + "obsolete_colorectal cancer" "level of Phosphatidylcholine (18:0_22:6) in blood serum" "level of ADP-ribosylation factor-binding protein GGA3 in blood serum" "frizzled-1" @@ -56883,12 +56874,12 @@ "familial reactive perforating collagenosis" "fructose-bisphosphate aldolase C measurement" "Angelman syndrome due to paternal uniparental disomy of chromosome 15" - "mean corpuscular volume" "inclusion body myopathy and brain white matter abnormalities" "AB SOLiD 5500" "renal pelvis/ureter" - "protein transport protein Sec61 subunit beta" "chronic kidney disease" + "protein transport protein Sec61 subunit beta" + "mean corpuscular volume" "obsolete_larval stage" "level of Phosphatidylcholine (18:2_0:0) in blood serum" "neck" @@ -56999,8 +56990,8 @@ "Komagataella pastoris" "level of G protein-coupled receptor kinase 5 in blood serum" "obsolete_multiple carboxylase deficiency" - "Menstrual disorder"@en "Pythium ultimum" + "Menstrual disorder"@en "level of melanoma antigen preferentially expressed in tumors in blood" "ubiquitin carboxyl-terminal hydrolase MINDY-1" "middRAD" @@ -57039,8 +57030,8 @@ "HN-5 Cell" "hypokalemic periodic paralysis" "obsolete Infantile hypercalcemia" - "distal trisomy 14q" "breast capillary hemangioma" + "distal trisomy 14q" "CXCL1 measurement" "liver abscess (disease)" "obsolete_branchiostegal ray 2" @@ -57079,14 +57070,14 @@ "intersectin-1 measurement" "cyclazosin hydrochloride" "Onthophagus nigriventris" - "fibula fracture" "level of cytoglobin in blood serum" "benign neoplasm of spleen" - "Chlamydia pneumoniae seropositivity" + "fibula fracture" "ovarian hyperstimulation syndrome" + "Chlamydia pneumoniae seropositivity" "caspase-5" - "obsolete_pigmented paravenous retinochoroidal atrophy" "syntaxin-2" + "obsolete_pigmented paravenous retinochoroidal atrophy" "level of leucine-rich repeat-containing protein 37A2 in blood serum" "obsolete_craniofacial skeleton bone" "obsolete_chronic respiratory distress with surfactant metabolism deficiency" @@ -57094,12 +57085,12 @@ "diacylglycerol (12:0/18:1, 14:0/16:1, 16:0/14:1) [2] measurement" "Dinoroseobacter shibae DFL 12" "6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4" + "obsolete_Vitreoretinopathy" "Pu-seq" "bone mineral content measurement" "basic leucine zipper transcriptional factor ATF-like" "biological process involved in interaction with host" "guanylate-binding protein 4" - "obsolete_Vitreoretinopathy" "obsolete_faciocardiorenal syndrome" "Mitochondrial disorder due to a defect in mitochondrial protein synthesis" "vascular cord" @@ -57156,8 +57147,8 @@ "Na(+)/H(+) exchange regulatory cofactor NHE-RF2" "embryo stage" "ichthyosis with erythrokeratoderma" - "Buratti-Harel syndrome" "level of paraspeckle component 1 in blood serum" + "Buratti-Harel syndrome" "4-methyl-2-oxopentanoate" "level of dynein light chain Tctex-type 1 in blood serum" "obsolete_Familial dementia, British type" @@ -57173,8 +57164,8 @@ "level of FXYD domain-containing ion transport regulator 5 in blood" "CCL21 measurement" "mismatch repair endonuclease PMS2" - "Familial osteochondritis dissecans" "CCN family member 4" + "Familial osteochondritis dissecans" "distal trisomy 15q" "level of transcription factor E2F5 in blood serum" "saccharin" @@ -57189,8 +57180,8 @@ "obsolete_autosomal recessive distal osteolysis syndrome" "chronic endophthalmitis" "eosinophil peroxidase deficiency" - "hypoplastic left heart syndrome" "obsolete_Female restricted epilepsy with intellectual disability" + "hypoplastic left heart syndrome" "JEG3" "netrin-G1" "obsolete_nerve cell" @@ -57201,8 +57192,8 @@ "protocadherin beta-1 measurement" "ciliary dyskinesia, primary, 39" "obsolete_bipartite talus" - "Biphasic Mesothelioma" "seqFISH" + "Biphasic Mesothelioma" "X-10458 measurement" "cysteine-rich protein 2" "obsolete_low anorectal malformation" @@ -57272,9 +57263,9 @@ "obsolete_keratinopathic ichthyosis" "obsolete_congenital elbow dislocation, unilateral" "level of C-X-C motif chemokine 14 in blood serum" + "obsolete_non-distal trisomy 9q" "qualitative or quantitative defects of alpha-dystroglycan" "neoplasm of esophagus" - "obsolete_non-distal trisomy 9q" "diclofenac sodium" "intermediate coronary syndrome" "chitinase-3-like protein 1" @@ -57284,8 +57275,8 @@ "familial hyperlipidemia" "influenza B seropositivity" "phosphatidylcholine diacyl C32:2 measurement" - "obsolete_ileum" "arachidonoylcarnitine (C20:4) measurement" + "obsolete_ileum" "dipetalonemiasis" "triacylglycerol 52:5 measurement"@en "white wine liking measurement" @@ -57321,8 +57312,8 @@ "age of onset of childhood onset asthma" "succinate dehydrogenase assembly factor 2, mitochondrial measurement" "CATCH-seq" - "obsolete_adrenomyodystrophy" "intellectual disability, autosomal dominant 29" + "obsolete_adrenomyodystrophy" "Transverse facial cleft" "multiple cutaneous and mucosal venous malformations" "CS57658" @@ -57341,11 +57332,11 @@ "PFAPA syndrome" "Abnormal cornea morphology" "cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1" + "protocadherin-15 measurement" "1-eicosadienoylglycerophosphocholine measurement" "interleukin-26 (Homo sapiens)" "branched-chain-amino-acid aminotransferase, mitochondrial" "metastatic neoplasm" - "protocadherin-15 measurement" "level of Phosphatidylcholine (16:0_16:0) in blood serum" "limited phosphate treatment" "alkaline phosphatase, tissue-nonspecific isozyme" @@ -57375,8 +57366,8 @@ "Geospiza magnirostris" "phosphate ion homeostasis" "plakophilin-2" - "C18:3 lysophosphatidylethanolamine measurement" "temporal horn of lateral ventricle volume measurement"@en + "C18:3 lysophosphatidylethanolamine measurement" "level of ADP-ribosylation factor-like protein 15 in blood serum" "Severe muscular hypotonia" "level of potential tRNA (adenine-N(1)-)-methyltransferase catalytic subunit TRMT61B in blood serum" @@ -57437,8 +57428,8 @@ "Cardiac anomalies - heterotaxy" "calcyphosin" "high-risk pregnancy" - "Herpesviridae infectious disease" "level of long-chain specific acyl-CoA dehydrogenase, mitochondrial in blood serum" + "Herpesviridae infectious disease" "phosphorylase kinase activity" "Pool-Seq" "osteopathia striata-pigmentary dermopathy-white forelock syndrome" @@ -57552,8 +57543,8 @@ "granulosa cell" "intellectual disability, autosomal recessive 1" "obsolete_qualitative or quantitative defects of alpha-actin" - "neuroschistosomiasis" "Atrioventricular canal defect" + "neuroschistosomiasis" "beta-defensin 115 measurement" "membranous glomerulonephritis" "ILSXISS97/TejJ" @@ -57609,8 +57600,8 @@ "level of gamma-glutamylcyclotransferase in blood serum" "pseudokinase FAM20A" "uncultured organism" - "Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome" "uridine diphosphate galactose measurement"@en + "Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome" "glycerophospholipid measurement" "(S)-a-amino-omega-caprolactam measurement" "Exotropia" @@ -57685,8 +57676,8 @@ "syntaxin-1B" "pulmonary valve stenosis" "obsolete_ataxia telangiectasia" - "pseudomembranous enterocolitis" "level of desmocollin-1 in blood serum" + "pseudomembranous enterocolitis" "obsolete X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome" "level of membrane-bound transcription factor site-1 protease in blood serum" "lung structure" @@ -57725,8 +57716,8 @@ "level of hydroxyacyl-coenzyme A dehydrogenase, mitochondrial in blood" "Pulmonary arterial hypertension associated with connective tissue disease" "IMP" - "obsolete_partial deletion of the long arm of chromosome 13" "autosomal recessive limb-girdle muscular dystrophy type 2U" + "obsolete_partial deletion of the long arm of chromosome 13" "ajmaline" "Waardenburg syndrome" "level of Rho guanine nucleotide exchange factor 1 in blood serum" @@ -57740,12 +57731,12 @@ "level of metabotropic glutamate receptor 4 in blood serum" "CXCL10 measurement" "obsolete_intersegmental vessel" - "7q11.23 microduplication syndrome" "quinate measurement" + "7q11.23 microduplication syndrome" "intercostal muscle" "RIP-Chip by array" - "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" "ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome" + "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" "corneal endothelium" "methylmalonate semialdehyde dehydrogenase deficiency" "Barber-Say syndrome" @@ -57780,8 +57771,8 @@ "phosphatidylcholine O-36:5" "protein FAM163B" "Tyrosinemia type 1" - "N-acetyl-L-tryptophan" "obsolete_Cockayne syndrome type 2" + "N-acetyl-L-tryptophan" "congenital dyserythropoietic anemia type 3" "Syndactyly" "level of SH2 domain-containing adapter protein D in blood serum" @@ -58129,8 +58120,8 @@ "L-Methylcysteine" "S-methyl-L-cysteine" "(2R)-2-amino-3-(methylsulfanyl)propanoic acid" - "GCT" "GCT" + "GCT" "Abrikosoff's granulous cell tumor" "Abrikosov's tumour" "giant granulocellular Abrikosov's tumor" @@ -58715,6 +58706,9 @@ "intellectual disability syndrome, Mietens-WEBER type" "corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and intellectual disability" "Mietens-Weber syndrome" + "Devic syndrome" + "Devic's neuromyelitis optica" + "NMO" "BARE lymphocyte syndrome, type II" "Bare lymphocyte syndrome, type II" "SCID, HLA CLASS II-NEGATIVE BARE lymphocyte syndrome, type II, complementation group A, included" @@ -58744,12 +58738,9 @@ "BARE lymphocyte syndrome" "immunodeficiency by defective expression of HLA class 2" "Bls, type 2" - "Devic syndrome" - "Devic's neuromyelitis optica" - "NMO" - "n. tibialis" "ACPHD" "ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus" + "n. tibialis" "NEV" "Viramune" "11-cyclopropyl-5,11-dihydro-4-methyl-6H-dipyrido(3,2-b:2',3'-e)(1,4)diazepin-6-one" @@ -59201,8 +59192,8 @@ "glandulae endocrinae" "ductless gland" "2nd lobe" - "lobus hepatis dexter" "second lobe" + "lobus hepatis dexter" "gall bladder lobe" "right hepatic lobe" "carbamoyl oxime" @@ -60239,8 +60230,8 @@ "medulloblastoma, Desmoplastic" "cerebellar medulloblastoma" "medulloblastoma, desmoplastic" - "MDB" "MDB" + "MDB" "localized primitive neuroectodermal tumor" "multiple osseous dysplasia, characteristic ear shape, and short stature" "auriculo-osteodysplasia" @@ -60570,8 +60561,8 @@ "D" "DL-Asparagic acid" "severe microcephaly with mental retardation and dilated cardiomyopathy" - "severe microcephaly with intellectual disability and dilated cardiomyopathy" "microcephaly with cardiomyopathy" + "severe microcephaly with intellectual disability and dilated cardiomyopathy" "microcephaly-cardiomyopathy" "severe microcephaly and self-limiting dilated cardiomyopathy" "autosomal recessive spastic paraplegia type 74" @@ -60589,11 +60580,11 @@ "arthrogryposis multiplex congenita, distal, type II, with craniofacial abnormalities" "arthrogryposis multiplex congenita, distal, type 2B" "oxylipins" + "amyotrophy, thenar, of carpal origin" + "CTS" "4-HPB" "Betuligenol" "Rhododendrol" - "amyotrophy, thenar, of carpal origin" - "CTS" "RUIJS-Aalfs syndrome" "RJALS" "Bet" @@ -61550,13 +61541,13 @@ "VCFS" "velocardiofacial syndrome" "N-Epsilon-acetyllysine" - "(2S)-6-(acetylamino)-2-aminohexanoic acid" + "N6-Acetyl-L-lysine" "N(zeta)-acetyllysine" "N(zeta)-acetyl-L-lysine" + "(2S)-6-(acetylamino)-2-aminohexanoic acid" + "N(epsilon)-acetyl-L-lysine" "N-epsilon-Acetyl-L-lysine" "N(6)-ACETYLLYSINE" - "N6-Acetyl-L-lysine" - "N(epsilon)-acetyl-L-lysine" "lactase deficiency, congenital" "Alactasia, congenital" "disaccharide intolerance 2" @@ -62087,11 +62078,11 @@ "n-tetradecoate" "n-tetradecan-1-oate" "CH3-[CH2]12-COO(-)" + "BILIVERDINE IX ALPHA" "Biliverdin IXalpha" "Biliverdin IX alpha" "Biliverdine" "8,12-bis(2-carboxyethyl)-2,7,13,17-tetramethyl-3,18-divinylbilin-1(19)(21H,24H)-dione" - "BILIVERDINE IX ALPHA" "epilepsy, ataxia, sensorineural deafness, and tubulopathy" "SESAMES" "seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance" @@ -62415,15 +62406,15 @@ "cataract, congenital lamellar" "cataract, posterior polar, 2" "cataract 16, multiple types" - "1-methylurate anions" "Cystopyelitis" "Pyelocystitis" + "1-methylurate anions" "SCN8A encephalopathy" "SCN8A epilepsy" "squamous cell carcinoma of the vulva/vagina" "renal cortex collecting duct" - "NSGCT" "Collapsed nostrils" + "NSGCT" "trisomy 17q" "chromosome 17q duplication" "partial trisomy 17q" @@ -62493,8 +62484,8 @@ "autoimmune hypersensitivity disease" "hypersensitivity reaction type II disease" "caudal DUPLICATION anomaly" - "ECD" "ECD" + "ECD" "Erdheim Chester disease" "lipoid granulomatosis" "ARDS" @@ -63545,6 +63536,7 @@ "effector B cell" "effector B-cell" "aminopterin syndrome sine aminopterin" + "(2R)-hydroxy-4-methylpentanoate" "(R)-2-hydroxy-4-methylvalerate" "Infection, Nematode" "Nematode Infections" @@ -63555,11 +63547,11 @@ "Infections, Nematode" "Nematodiasis" "Disease due to Nematoda" - "CHRCC" "CHRCC" + "CHRCC" "ChRCC" - "CRCC" "CRCC" + "CRCC" "amiodarona" "2-Butyl-3-benzofuranyl 4-(2-(diethylamino)ethoxy)-3,5-diiodophenyl ketone" "2-n-Butyl-3',5'-diiodo-4'-N-diethylaminoethoxy-3-benzoylbenzofuran" @@ -63890,7 +63882,6 @@ "PC(38:3)" "GPCho(38:3)" "PC 38:3" - "Pancoast's tumour" "hereditary motor and sensory neuropathy 2 C" "HMSN 2 C" "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2C" @@ -63907,6 +63898,7 @@ "4,4'-(3H-2,1-benzoxathiol-3-ylidene)bisphenol S,S-dioxide" "Phenolsulfonphthalein" "3,3-bis(p-hydroxyphenyl)-3H-2,1-benzoxathiole 1,1-dioxide" + "Pancoast's tumour" "absent eyebrows and eyelashes with intellectual disability" "absent eyebrows and eyelashes with mental retardation" "mental retardation, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose" @@ -64116,13 +64108,13 @@ "infections, Respirovirus" "N-Ethyl-N-nitroso-urea" "N-Ethylnitrosourea" - "Aethylnitroso-harnstoff" - "NEU" - "N-Ethyl-N-nitroso carbamide" "Ethyl nitrosourea" - "1-(Aminocarbonyl)-1-ethyl-2-oxohydrazine" "1-Ethyl-1-nitrosourea" + "NEU" + "Aethylnitroso-harnstoff" + "1-(Aminocarbonyl)-1-ethyl-2-oxohydrazine" "ENU" + "N-Ethyl-N-nitroso carbamide" "DL-glucose" "Glukose" "Glc" @@ -64201,8 +64193,8 @@ "Burkitts lymphoma cell" "Burkitt's lymphoma cell" "African lymphoma cell" - "metaplastic adenosquamous carcinoma" "HLHS1" + "metaplastic adenosquamous carcinoma" "primary dystonia, DYT21 type" "Moderate neural deafness" "Myoclonic epilepsy, progressive" @@ -64701,9 +64693,9 @@ "adenoma sebaceum" "adenoma sebaceum syndrome" "myoglobinuria recurrent" + "lactic acidosis" "portion of bone tissue" "bone" - "lactic acidosis" "ptosis vocal cord paralysis" "congenital bilateral recurrent nerve paralysis and ptosis" "vocal cord paralysis and ptosis" @@ -65562,8 +65554,8 @@ "KBr" "polio virus meningitis" "Uroureter" - "PAAC" "PAAC" + "PAAC" "Pnpo deficiency" "PNPOD" "epileptic encephalopathy, neonatal, Pnpo-related" @@ -65626,8 +65618,8 @@ "infections, Bartonellaceae" "infection, Bartonellaceae" "Bartonellaceae infection" - "MESOM" "MESOM" + "MESOM" "response to beta-1 interferon" "pulmonary vascular element" "PMGYSA" @@ -66881,8 +66873,8 @@ "nocodazole" "R17,934" "R-17934" - "methyl N-(5-thenoyl-2-benzimidazolyl)carbamate" "N-(5-(2-thienoyl)-2-benzimidazolyl)carbamic acid methyl ester" + "methyl N-(5-thenoyl-2-benzimidazolyl)carbamate" "ABS2" "trapezoidocephaly-synostosis Syndrome" "multisynostotic osteodysgenesis with long bone fractures" @@ -66905,13 +66897,13 @@ "gonadal dysgenesis, XY female type" "coarctation of aorta" "coarctation of the aorta" - "N-Methyl aspartic acid" - "NMDA" - "N-Methylaspartate" - "2-Methylamino-succinic acid" "N-Methyl-D-aspartate" + "N-Methyl aspartic acid" "Methyl aspartic acid" + "N-Methylaspartate" "(R)-2-Methylamino-succinic acid" + "2-Methylamino-succinic acid" + "NMDA" "irises" "anterior uvea" "irides" @@ -67197,8 +67189,8 @@ "Maldison" "diethyl ((dimethoxyphosphinothioyl)thio)butanedioate" "O,O-dimethyl S-(1,2-bis(ethoxycarbonyl)ethyl)" - "mercaptothion" "Karbofos" + "mercaptothion" "O,O-dimethyl S-1,2-di(ethoxycarbamyl)ethyl" "[(dimethoxyphosphinothioyl)thio]butanedioic acid diethyl ester" "diethyl 2-[(dimethoxyphosphorothioyl)sulfanyl]butanedioate" @@ -67542,8 +67534,8 @@ "PC(O-40:4)" "phosphatidylcholine(O-40:4)" "PC O-40:4" - "PTCL" "PTCL" + "PTCL" "myopathy, distal, with anterior tibial onset" "DMAT" "systemic fungal infection" @@ -67599,8 +67591,8 @@ "Spirochetosis" "right lung inferior lobe" "right lung caudal lobe" - "APAD" "APAD" + "APAD" "cod-MD syndrome" "MDDGA1" "hydrocephalus, agyria, and retinal dysplasia" @@ -68076,8 +68068,8 @@ "papillary stomach adenocarcinoma" "acute myeloblastic leukaemia type 1" "acute myeloblastic leukemia type 1" - "AWM" "AWM" + "AWM" "L-Val-Gly" "VG" "V-G" @@ -68177,13 +68169,13 @@ "autosomal dominant cerebellar ataxia with mental retardation" "cerebellar ataxia, autosomal dominant with intellectual disability" "autosomal dominant cerebellar ataxia with intellectual disability" - "6-O-methylerythromycin" - "CLA" - "6-O-methylerythromycin A" - "clarithromycinum" "clarithromycin" - "clarithromycine" + "clarithromycinum" + "CLA" + "6-O-methylerythromycin" "clarithromycina" + "clarithromycine" + "6-O-methylerythromycin A" "thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness" "7-Hoca" "glandula thyroidea" @@ -68297,8 +68289,8 @@ "[N2-[(S)-1-CARBOXY-3-PHENYLPROPYL]-L-LYSYL-L-PROLINE" "(S)-1-(N(2)-(1-carboxy-3-phenylpropyl)-L-lysyl)-L-proline" "lisinopril anhydrous" - "adenoid cystic carcinoma of ethmoid sinus" "LIDLS" + "adenoid cystic carcinoma of ethmoid sinus" "N-(L-Arginino)succinate" "N(omega)-(L-Arginino)succinate" "N-(L-arginino) succinate" @@ -68397,8 +68389,8 @@ "prominent glabella microcephaly hypogenitalism" "Mac Dermot Winter syndrome" "sphingomyelin C16:1" - "SMMCL" "SMMCL" + "SMMCL" "urethral benign neoplasm" "Favre hyaloideoretinal Degeneration" "N-acetyl-L-lysine" @@ -68577,20 +68569,20 @@ "nerve fiber" "myoclonus cerebellar ataxia deafness" "myoclonus, cerebellar ataxia, and deafness" - "STSC" "STSC" - "AM" + "STSC" "AM" + "AM" "acute myeloblastic leukaemia type 2" "acute myeloblastic leukemia type 2" "LAM M2" - "MRMV3" "triacylglycerol(58:12)" "TAG(58:12)" "TG(58:12)" "Verloes-Lesenfants syndrome" "macroblepharon, ectropion, hypertelorism, and macrostomia" "mandibulofacial dysostosis with macroblepharon and macrostomia" + "MRMV3" "Losses, mixed hearing" "hearing loss, mixed conductive sensorineural" "mixed type deafness" @@ -68676,9 +68668,9 @@ "(2R)-2-amino-3-sulfinopropanoic acid" "3-Sulfinoalanine" "Pickwickian syndrome" - "iHiGP2" "Loeys-Dietz syndrome 5" "LDS5" + "iHiGP2" "esophageal basaloid squamous cell carcinoma" "basaloid squamous carcinoma of the oesophagus" "basaloid squamous carcinoma of the esophagus" @@ -68795,8 +68787,8 @@ "basal ganglia" "basal nucleus" "nuclei basales" - "PAASC" "PAASC" + "PAASC" "CDGF" "AL" "L-Ala-L-Leu" @@ -68866,12 +68858,12 @@ "Somatomedin-secreting carcinoid" "albinism, black lock, cell migration disorder of the Neurocytes of the gut, and deafness" "ABCDS" + "CHBL" + "CHBL" "basal ganglia disease, biotin-responsive" "thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type)" "encephalopathy, thiamine-responsive" "THMD2" - "CHBL" - "CHBL" "congenital joint dislocations" "BRPS" "BAINBRIDGE-ROPERS syndrome" @@ -68938,8 +68930,8 @@ "phosphatidylcholine(36:5)" "PC(36:5)" "GPCho(36:5)" - "pontocerebellar hypoplasia, type 9" "vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis" + "pontocerebellar hypoplasia, type 9" "3rd aortic arch artery" "3rd pharyngeal arch artery" "3rd branchial arch artery" @@ -69016,8 +69008,8 @@ "anti-osteopenia agent" "anti-osteoporosis drugs" "bone density conservation agents" - "antiosteoporotic" "bone density conservation drugs" + "antiosteoporotic" "anti-osteoporotic" "anti-osteoporosis drug" "anti-osteoporotics" @@ -69151,8 +69143,8 @@ "caprylate" "n-caprylate" "Long Q-T syndrome" - "dendritic cell neoplasm" "dinitrophenols" + "dendritic cell neoplasm" "malignant germ cell tumor of the cervix uteri" "malignant germ cell tumour of the cervix uteri" "tumour of extragonadal germ cell" @@ -69172,8 +69164,8 @@ "olfactory apparatus" "IDDABS" "INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE" - "THYM" "THYM" + "THYM" "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28" "SCAR28" "Dull intelligence" @@ -69876,8 +69868,8 @@ "THYMUS" "Paget disease, EXTRAMAMMARY" "cutaneous Paget's disease" - "EMPD" "EMPD" + "EMPD" "intellectual disability with language impairment and with or without autistic features" "mental retardation with language impairment and with or without autistic features" "FOXP1 related global developmental delay, intellectual disability and speech defects" @@ -70483,8 +70475,8 @@ "acides gras" "acide gras" "Fettsaeure" - "CM" "CM" + "CM" "colon signet ring adenocarcinoma" "vanadium(V) oxide" "V2O5" @@ -71023,10 +71015,10 @@ "hyperimmunoglobulin M syndrome" "adenoid cystic breast cancer" "rare inborn error of glucose transport" - "H4atp" "Adenosine triphosphate" - "ADENOSINE-5'-TRIPHOSPHATE" "Adenosine 5'-triphosphate" + "ADENOSINE-5'-TRIPHOSPHATE" + "H4atp" "Hearing loss" "Hypoacusis" "adrenocortical carcinoma, paediatric" @@ -71034,8 +71026,8 @@ "adrenocortical carcinoma, pediatric" "Lms" "LMNS" - "(11beta)-11,21-dihydroxy-3,20-dioxopregn-4-en-18-al" "11beta,21-Dihydroxy-3,20-dioxo-4-pregnen-18-al" + "(11beta)-11,21-dihydroxy-3,20-dioxopregn-4-en-18-al" "(+)-aldosterone" "spondylometaphyseal dysplasia X-linked" "spondylometaphyseal dysplasia, X-linked" @@ -71895,8 +71887,8 @@ "Natriumpyruvat" "Kaposi sarcoma herpesvirus" "Kaposi's sarcoma-associated herpesvirus (KSHV)" - "KSHV" "KSHV" + "KSHV" "Mediterranean Kaposi sarcoma" "non AIDS related Kaposi sarcoma" "African lymphadenopathic Kaposi's sarcoma" @@ -72329,7 +72321,9 @@ "4-(4-hydroxy-3-iodophenoxy)-3,5-diiodo-L-phenylalanine" "3,5,3'-Triiodo-L-thyronine" "T3" + "L-triiodothyronine" "3,5,3'-Triiodothyronine" + "L-3,3',5-triiodothyronine" "metacarpal 4-5 fusion" "metacarpals 4 and 5 fusion" "MF4" @@ -72519,12 +72513,12 @@ "GK1 deficiency" "branchial dysplasia clubfoot inguinal hernia and biliary atresia" "branchial dysplasia, clubfoot, inguinal hernia, and biliary atresia" - "16-hydroxypalmitate" "hypofibrinogenemia, congenital" "familial afibrinogenemia" "afibrinogenemia" "afibrinogenemia congenital" "afibrinogenemia, congenital" + "16-hydroxypalmitate" "portal cirrhosis" "Laennec's cirrhosis, alcoholic" "Laennec's cirrhosis" @@ -72670,8 +72664,8 @@ "minociclinum" "minomycin" "rotator cuff tear" - "ANSC" "ANSC" + "ANSC" "N-L-Valyl-L-leucine" "VL" "L-Val-L-Leu" @@ -73433,8 +73427,8 @@ "[4)-beta-D-GlcpNAc(1->]n" "[1,4-(N-Acetyl-beta-D-glucosaminyl)]n" "beta-1,4-Poly-N-acetyl-D-glucosamine" - "PAOS" "PAOS" + "PAOS" "MDNS" "ViMusP2" "runny nose" @@ -73600,13 +73594,13 @@ "pulmonary venoocclusive disease 1, autosomal dominant" "von Willebrand's disease" "congenital von willebrand disease" + "OMS" + "come/Rom" + "otitis Media, chronic/recurrent" "methylmalonic acidemia with homocystinuria type cblJ" "MAHCJ" "methylmalonic aciduria and homocystinuria, cblJ type" "valva trunci pulmonalis" - "OMS" - "come/Rom" - "otitis Media, chronic/recurrent" "susceptibility to X-linked autism 3" "AUTSX3" "PEPNS" @@ -73871,8 +73865,8 @@ "fluconazole" "fluconazole" "adenocarcinoma of maxillary sinus" - "SCLC1" "SCLC1" + "SCLC1" "small cell cancer of the lung" "gamma-Glu-Phe" "cleft palate, CARDIAC defect, genital anomalies, and ectrodactyly" @@ -74072,7 +74066,6 @@ "non-steroidal anti-inflammatory agent" "ICA" "arteria carotis interna" - "N-(4-Hydroxyphenyl)retinamide" "all-trans-4'-Hydroxyretinanilide" "4-hydroxy(phenyl)retinamide" "fenretinidum" @@ -74081,6 +74074,7 @@ "N-(4-hydroxyphenyl)all-trans retinamide" "fenretinida" "fenretinide" + "N-(4-Hydroxyphenyl)retinamide" "T lymphocyte deficiency" "DNA synthesis inhibitors" "familial visceral xanthomatosis" @@ -74543,8 +74537,8 @@ "Ladda Zonana Ramer syndrome" "anterior limiting membrane" "Reichert's membrane" - "PTCY" "PTCY" + "PTCY" "SEMDSH" "spondyloepimetaphyseal dysplasia Shohat type" "SEMD Shohat type" @@ -74866,8 +74860,8 @@ "cataract, autosomal recessive congenital 3" "mental retardation, X-linked, syndromic, Mircsof-Langouet type" "intellectual disability, X-linked, syndromic, Mircsof-Langouet type" - "CEMU" "CEMU" + "CEMU" "hypofibrinogenemia, familial" "optic atrophy 1" "optic atrophy, Kjer type" @@ -75052,8 +75046,8 @@ "cortical dysplasia of Taylor with balloon cells" "focal cortical dysplasia, type 2" "focal cortical dysplasia, type 2A" - "AMLMD" "AMLMD" + "AMLMD" "primordium of face" "facial primordium" "embryonic facial process" @@ -75062,8 +75056,8 @@ "Bss" "BRSS" "Spiegler-Brooke syndrome" - "PTAD" "PTAD" + "PTAD" "plasmodiosis" "renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia" "Witteveen-Kolk syndrome" @@ -75576,8 +75570,8 @@ "congenital transposition of the penis" "Prepenile scrotum" "COASY protein-associated neurodegeneration" - "DDCHS" "DDCHS" + "DDCHS" "spastic paraplegia 21, autosomal recessive" "malignant germ cell tumor of the corpus uteri" "malignant germ cell tumour of the corpus uteri" @@ -75641,6 +75635,7 @@ "Walker-Warburg syndrome or muscle-eye-brain disease, GMPPB-related" "MDDGA14" "Periventricular white matter abnormalities" + "3-methyl-2-oxopentanoate" "2-keto-3-methylvalerate" "alpha-oxo-beta-methylvalerate" "2-Oxo-3-methylvalerate" @@ -75958,8 +75953,8 @@ "mucoepidermoid carcinoma of the lung" "Del Castillo syndrome" "highly aggressive undifferentiated carcinoma of the nasal cavity and paranasal sinuses" - "SNUC" "SNUC" + "SNUC" "lobus parietalis" "myelopathy" "pentosenucleic acids" @@ -76078,12 +76073,12 @@ "monofluorotrichloromethane" "fluorotrichloromethane" "fluorochloroform" - "ethane-1,2-dioic acid" - "Ethandisaeure" "HOOCCOOH" - "Ethanedioic acid" "H2ox" + "Ethandisaeure" "Oxalsaeure" + "Ethanedioic acid" + "ethane-1,2-dioic acid" "Benzene-o-dicarboxylic acid di-n-butyl ester" "Butyl phthalate" "n-Butyl phthalate" @@ -76722,8 +76717,8 @@ "ACS 1" "nephropathy" "Punctate lenticular opacities" - "CESC" "CESC" + "CESC" "PTCA" "pars sympathica divisionis autonomici systematis nervosi" "dimethylcetone" @@ -76930,13 +76925,13 @@ "hyperfibrinolysis due to Pai1 deficiency" "plasminogen activator INHIBITOR-1 deficiency" "plasminogen activator inhibitor type 1 deficiency" + "(naphthalen-1-yl)acetic acid" + "1-Naphthylacetic acid" "NAA" "NAPHTHALEN-1-YL-ACETIC ACID" - "naphthalene-1-acetic acid" - "alpha-NAA" - "1-Naphthylacetic acid" - "(naphthalen-1-yl)acetic acid" "alpha-naphthaleneacetic acid" + "alpha-NAA" + "naphthalene-1-acetic acid" "medulla of bone" "medullary bone" "head vasculature" @@ -77093,7 +77088,6 @@ "Iron(III)dicitrate" "Fe(III)dicitrate" "iron(III) dicitrate" - "genetic cardiac tumor" "osteosarcoma, limb anomalies (clinodactyly, absence of digital ray in foot, bilateral radioulnar synostosis) and macrocytosis without anemia" "osteosarcoma, limb anomalies (clinodactyly, absence of digital ray in foot, bilateral radioulnar synostosis) and macrocytosis without anaemia" "osteosarcoma, limb anomalies, and macrocytosis" @@ -77105,6 +77099,7 @@ "epilepsy, progressive myoclonic, 2A" "Epm2" "epilepsy, progressive myoclonic, 2B" + "genetic cardiac tumor" "TTM" "notochordal cancer" "duodenal benign neoplasm" @@ -78632,8 +78627,8 @@ "8-bromoadenosine 3',5'-monophosphate" "gastrointestinal stromal tumors" "gastrointestinal stromal tumours" - "MCSL" "MCSL" + "MCSL" "N,N'-Dimethyl-4,4'-bipyridylium dichloride" "Methyl viologen dichloride" "Methyl viologen" @@ -78816,8 +78811,8 @@ "Z E syndrome" "Z-E syndrome" "pancreatic ulcerogenic tumour syndrome" - "ZES" "ZES" + "ZES" "poikiloderma congenitale" "poikiloderma atrophicans and cataract" "tumour cell" @@ -80277,15 +80272,15 @@ "Ro 1-9569" "1,2,4,6,7,11b-hexahydro-3-isobutyl-9,10-dimethoxy-2H-benzo[a]quinolizin-2-one" "tetrabenazina" - "Hydroxizinum" - "hydroxyzine" "Hychotine" - "Hydroxycine" "hydroxyzinum" + "Hydroxizine" "hidroxizina" "Hydroxine" - "Hydroxizine" "Hydroxyzin" + "hydroxyzine" + "Hydroxycine" + "Hydroxizinum" "coloboma of iris, choroid, and retina" "coloboma, Uveoretinal" "primary biliary cirrhosis, Scleroderma, Raynaud disease, and telangiectasia" @@ -80460,8 +80455,8 @@ "ARB" "bestrophinopathy, autosomal recessive" "keratoderma palmoplantar spastic paralysis" - "MMB" "MMB" + "MMB" "brain trauma" "brain Traumas" "split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects" @@ -80691,8 +80686,8 @@ "N-(2-Amino-2-carboxyethyl)histidine" "Histidinoalanine" "histidylalanine" - "GRCT" "GRCT" + "GRCT" "granulosa cell tumor, undetermined" "gallbladder mucinous carcinoma" "Puertorican infant hypotonia syndrome" @@ -81391,44 +81386,44 @@ "congenital NAD deficiency Disorder 1" "VCRL1" "3-hydroxyanthranilic acidemia" - "tretinoine" "all-trans retinoic acid" - "Atralin" - "all-trans-vitamin A acid" - "Veltin" - "tretinoin" - "(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethyl-1-cyclohexenyl)nona-2,4,6,8-tetraenoic acid" + "tretinoine" + "trans-retinoic acid" + "tretinoinum" "Tretin M" - "Altreno" - "3,7-dimethyl-9-(2,6,6-trimethyl-1-cyclohexene-1-yl)-2,4,6,8-nonatetraenoic acid" - "Biacna" - "Vesanoid" - "Retin-A" - "Stieva-A" + "3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-enyl)nona-2,4,6,8-all-trans-tetraenoic acid" + "AGN 100335" + "vitamin A acid" "beta-Retinoic acid" - "Retisol-A" - "retinoic acid" + "all-trans-tretinoin" "Cordes vas" "Acide retinoique (French)" - "3,7-dimethyl-9-(2,6,6-trimethylcyclohexen-1-yl)nona-2E,4E,6E,8E-tetraenoic acid" - "3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-enyl)nona-2,4,6,8-all-trans-tetraenoic acid" - "vitamin A acid" - "all-trans-beta-Retinoic acid" - "Dermairol" - "(all-E)-3,7-dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoic acid" - "trans-retinoic acid" - "tretinoina" "all-trans-vitamin A1 acid" - "Tri-luma" + "Retisol-A" "Avita" - "tretinoinum" + "Atralin" + "all-trans-beta-Retinoic acid" + "Dermairol" + "(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethyl-1-cyclohexenyl)nona-2,4,6,8-tetraenoic acid" "Betarretin" - "all-trans-tretinoin" + "Tri-luma" "all-(E)-retinoic acid" - "Renova" + "Vesanoid" + "3,7-dimethyl-9-(2,6,6-trimethyl-1-cyclohexene-1-yl)-2,4,6,8-nonatetraenoic acid" + "Veltin" + "Stieva-A" + "(all-E)-3,7-dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoic acid" + "tretinoina" + "tretinoin" "Refissa" + "all-trans-vitamin A acid" + "Altreno" + "retinoic acid" + "Renova" "Ro 1-5488" - "AGN 100335" + "3,7-dimethyl-9-(2,6,6-trimethylcyclohexen-1-yl)nona-2E,4E,6E,8E-tetraenoic acid" + "Retin-A" + "Biacna" "atomus" "atoms" "elements" @@ -81952,13 +81947,13 @@ "PC O-42:0" "GPCho(O-42:0)" "diarrhea, chronic, with villous atrophy" + "digital arthropathy-brachydactyly, familial" + "FDAB" "acute non lymphoblastic leukaemia" "leukemia, acute myeloid, susceptibility to" "leukemia, acute myeloid" "acute non lymphoblastic leukemia" "leukemia, acute myelogenous" - "digital arthropathy-brachydactyly, familial" - "FDAB" "PPK diffusa circumscripta" "Unna-Thost palmoplantar keratoderma" "PPKNE" @@ -82431,8 +82426,8 @@ "4-pregnene-17alpha,21-diol-3,11,20-trione" "Kortison" "pregn-4-en-17alpha,21-diol-3,11,20-trione" - "Reichstein's substance Fa" "17alpha,21-dihydroxy-4-pregnene-3,11,20-trione" + "Reichstein's substance Fa" "17alpha,21-Dihydroxy-4-pregnene-3,11,20-trione" "lobar bronchi" "secondary bronchi" @@ -82621,13 +82616,13 @@ "Intracavitary tumours" "myocardial tumours (rhabdomyomas and fibromas)" "6-Deoxocathasterone" - "ethanoate" - "acetic acid, ion(1-)" "Azetat" - "Ethanoat" + "acetic acid, ion(1-)" + "CH3-COO(-)" "ACETATE ION" + "Ethanoat" + "ethanoate" "MeCO2 anion" - "CH3-COO(-)" "hypodontia/oligodontia 2" "autosomal dominant thoracolaryngopelvic dysplasia" "TLPD" @@ -83017,15 +83012,15 @@ "glycosuria, renal" "GLYS" "RTPS2" - "MDDGC12" - "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12" - "muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related" "dystrophia myotonica 2" "myotonic dystrophy 2" "myotonic myopathy, proximal" "PROMM" "dystrophia myotonica type 2" "DM2" + "MDDGC12" + "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12" + "muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related" "sulfanylpurines" "mercaptopurines" "thiopurines" @@ -83204,8 +83199,8 @@ "MRD57" "mental retardation, autosomal dominant 57" "Inflammatory bowel disease" - "LIAD" "LIAD" + "LIAD" "congenital disorder of glycosylation, type Is" "CDG Is" "loss of chromosome 8" @@ -83428,10 +83423,10 @@ "DPM3-CDG (CDG-Io)" "DG1O" "CDG Io" - "skull base cancer" "Waardenburg syndrome, type 1" "Waardenburg syndrome with dystopia canthorum" "Waardenburg's syndrome type 1" + "skull base cancer" "bronchial tissue" "retraction syndrome" "Duane anomaly" @@ -83443,8 +83438,8 @@ "pseudohypoaldosteronism, type IIE" "TAG(56:6)" "TG(56:6)" - "BMPM" "BMPM" + "BMPM" "multilocular peritoneal cysts" "multilocular peritoneal inclusion cysts" "benign cystic peritoneal mesothelioma" @@ -83915,13 +83910,13 @@ "4-Phenyl-n-butyric acid" "gamma-phenylbutyric acid" "pericardial mesothelioma" + "synostosis of talus and calcaneus with short stature" + "TCC" + "tarsal carpal coalition syndrome" "poliglusam" "Deacetylchitin" "beta-1,4-Poly-D-glucosamine" "[4)-beta-D-GlcpN(1->]n" - "synostosis of talus and calcaneus with short stature" - "TCC" - "tarsal carpal coalition syndrome" "microcoria - congenital nephrotic syndrome" "microcoria-congenital nephrotic syndrome" "microcoria - congenital nephrosis" @@ -83941,11 +83936,11 @@ "FINCA" "FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS" "susceptibility to aspergillosis" - "anatomical systems" "small cell carcinoma - intermediate cell" "small cell carcinoma, intermediate cell (morphologic abnormality)" "intermediate cell small cell carcinoma" "small cell carcinoma, intermediate cell" + "anatomical systems" "fatty aldehyde dehydrogenase deficiency" "ichthyosis, spastic neurologic disorder, and oligophrenia" "FALDH deficiency" @@ -84042,8 +84037,8 @@ "Cyclo(2-amino-8-oxo-9,10-epoxydecanoic acid-prolyl-alanyl-alanine)" "Cyclo(aoe-pro-ala-ala)" "Embolism and thrombosis" - "PRV" "PRV" + "PRV" "primary polycythemia" "hepatolenticular Degeneration" "WD" @@ -84750,10 +84745,10 @@ "TAXOL" "cystinosis, intermediate" "cystinosis, late-onset juvenile or adolescent nephropathic type" - "Gonococcal urethritis" "triacylglycerol(58:9)" "TG(58:9)" "TAG(58:9)" + "Gonococcal urethritis" "Diffusely thickened skin" "infections, Human respiratory syncytial virus" "porphyria cutania tarda" @@ -85010,8 +85005,8 @@ "pseudoarylsulfatase A deficiency" "MLD" "cerebral sclerosis, diffuse, metachromatic form" - "AOAST" "AOAST" + "AOAST" "XLTDA" "organ of Corti" "basilar papilla" @@ -85134,7 +85129,6 @@ "PE(P-16:0/18:2)" "DICER1-related pleuropulmonary blastoma" "DICER1-related pleuropulmonary blastoma cancer predisposition syndrome" - "single-organism metabolic process" "cecal benign neoplasm" "tyrosine kinase inhibitors" "TKI inhibitors" @@ -85295,8 +85289,8 @@ "Treponemal infection" "infection, Treponemal" "infections, Treponemal" - "BLSC" "BLSC" + "BLSC" "neuronopathy, distal hereditary motor, type 6" "HMN VI" "severe infantile axonal neuropathy with respiratory failure" @@ -86131,8 +86125,8 @@ "Ht" "uterus fibroma" "leiomyoma, uterine" - "UL" "UL" + "UL" "uterine leiomyoma" "cardiomyopathy, familial hypertrophic, 12" "acute capillary bronchiolitis" @@ -86244,8 +86238,8 @@ "Sex-linked intellectual disability, short stature, obesity and hypogonadism" "X-linked intellectual disability - short stature – obesity" "tumoral calcinosis, hyperphosphatemic, familial, 2" - "HFTC2" "HFTC2" + "HFTC2" "Cardiovascular disease" "WARFARIN SENSITIVITY, X-LINKED" "Coumarin Sensitivity, X-Linked" @@ -87035,11 +87029,11 @@ "S-Allyl-L-cystein-S-oxide" "(S)-S-Allyl-L-cysteine sulfoxide" "S-allyl-L-cysteine sulfoxide" + "hyperadrenocorticism" + "hyperfunction, adrenocortical" "hyperfunction, adrenal gland" "disorder of corticoadrenal overactivity" "hypercorticism" - "hyperfunction, adrenocortical" - "hyperadrenocorticism" "long bones of lower limb cancer" "xerodermic idiocy" "ectrodactyly, ectodermal dysplasia, and cleft LIP/palate syndrome 3" @@ -87500,11 +87494,11 @@ "C4A deficiency" "C4AD" "complement component 4A deficiency" + "1-(o-Chlorotrityl)imidazole" + "1-(alpha-(2-Chlorophenyl)benzhydryl)imidazole" "1-(o-Chloro-alpha,alpha-diphenylbenzyl)imidazole" "1-((2-Chlorophenyl)diphenylmethyl)-1H-imidazole" "Mycelex (TN)" - "1-(alpha-(2-Chlorophenyl)benzhydryl)imidazole" - "1-(o-Chlorotrityl)imidazole" "Lotrimin (TN)" "Meibomian cyst" "chalazia" @@ -88256,8 +88250,8 @@ "asthma, protection against" "asthma-related traits, susceptibility to" "asthma, susceptibility to" - "asthma, bronchial" "asthma, diminished response to Antileukotriene treatment 1N" + "asthma, bronchial" "fungicides" "hemangiopericytoma of the central nervous system" "trifluoroperazine" @@ -88312,8 +88306,8 @@ "Lonidamin" "lonidamina" "2-amino-6-oxopurine" - "G" "2-Amino-6-hydroxypurine" + "G" "Gua" "spinal cord laceration" "traumatic Myelopathies" @@ -88582,8 +88576,8 @@ "liver glycogen synthase deficiency" "glycogen storage disease type 0" "liver GSD 0" - "AITL" "AITL" + "AITL" "disorder of heart muscle" "syndrome, HBOC" "hereditary breast ovarian cancer" @@ -88781,11 +88775,11 @@ "C.I. Natural Yellow 3" "C.I. 75300" "Natural yellow 3" - "HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS" - "HPE12" "deafness, congenital, with vitiligo and achalasia" "congenital deafness with vitiligo and achalasia" "deafness vitiligo achalasia" + "HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS" + "HPE12" "low tension Glaucomas" "tension Glaucomas, Low" "Glaucomas, normal tension" @@ -89211,8 +89205,8 @@ "GR127935 hydrochloride" "ptosis, strabismus, and ectopic pupils" "ptosis strabismus ectopic pupils" - "GBASC" "GBASC" + "GBASC" "rhabdomyosarcoma alveolar" "rhabdomyosarcoma, alveolar" "rhabdomyosarcoma 2" @@ -89373,9 +89367,9 @@ "dwarfism-hepatomegaly-obesity-juvenile diabetes syndrome" "Endocrine system disease" "Open mouth appearance" - "thrombocyte aggregation" "INTELLECTUAL developmental disorder with speech delay, DYSMORPHIC facies, and T-cell abnormalities" "IDDSFTA" + "thrombocyte aggregation" "HIHGHH" "hypoinsulinemic hypoglycemia with hemihypertrophy" "whirler, mouse, homolog of" @@ -89823,12 +89817,12 @@ "fludrocortisone" "fludrocortisone" "fludrocortisona" - "LXSC" "LXSC" + "LXSC" "LIGOWS" "LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME" - "PRSCC" "PRSCC" + "PRSCC" "MNKES" "Muenke nonsyndromic coronal craniosynostosis" "syndrome of coronal craniosynostosis" @@ -90030,10 +90024,10 @@ "infection by Pasteurella pseudotuberculosis" "Pasteurella Pseudotuberculoses" "pseudotuberculosis, Pasteurella" + "4-tert-butylphenethylquinazolin-4-yl ether" "giant axonal neuropathy 2, autosomal dominant" "GAN2" "autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons" - "4-tert-butylphenethylquinazolin-4-yl ether" "proton-transporting F-type ATPase complex" "laryngeal benign neoplasm" "atopic asthma" @@ -90239,8 +90233,8 @@ "Athabaskan brainstem dysgenesis" "Bosley-Salih-Alorainy syndrome" "ABDS" - "INTS" "INTS" + "INTS" "acromesomelic dysplasia Maroteaux type" "AMDM" "St. Helena dysplasia" @@ -91294,8 +91288,8 @@ "Etionamid" "Ethylisothiamide" "Trecator" - "CMCD" "CMCD" + "CMCD" "cyclophosphamide" "(Bis(chloro-2-ethyl)amino)-2-tetrahydro-3,4,5,6-oxazaphosphorine-1,3,2-oxide-2 monohydrate" "1-Bis(2-chloroethyl)amino-1-oxo-2-aza-5-oxaphosphoridine monohydrate" @@ -91386,13 +91380,13 @@ "deletion 6q" "pervasive child development disorders" "pervasive development disorders" + "kapur Toriello syndrome" + "long columella with cleft Lip/palate and eye, heart, and intestinal anomalies" + "long columella with cleft lip/palate and eye, heart and intestinal anomalies" "MUIR-Torre syndrome" "cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas" "MRTES" "cutaneous sebaceous neoplasms and keratoacanthomas, multiple, with gastrointestinal and Other carcinomas" - "kapur Toriello syndrome" - "long columella with cleft Lip/palate and eye, heart, and intestinal anomalies" - "long columella with cleft lip/palate and eye, heart and intestinal anomalies" "Mercury toxicity" "Trichodental dysplasia with hyperopia" "PILODENTAL dysplasia with refractive errors" @@ -91536,8 +91530,8 @@ "Growth hormone deficiency, isolated, partial" "Growth hormone, insensitivity to, partial" "GHIP" - "MSTAD" "MSTAD" + "MSTAD" "SMNA" "sensorimotor neuropathy with ataxia, autosomal dominant" "spinocerebellar ataxia 18" @@ -92201,10 +92195,6 @@ "factor XII deficiency" "factor 12 deficiency" "Haf deficiency" - "Subacute sclerosing leukoencephalitis" - "Dawson encephalitis" - "Dawson disease" - "panencephalitis, SUBACUTE sclerosing" "Terminal tremor" "Cerebellar tremor" "infections, Dictyocaulus" @@ -92212,6 +92202,10 @@ "Dictyocaulus infection" "Dictyocauliasis" "Dictyocauliases" + "Subacute sclerosing leukoencephalitis" + "Dawson encephalitis" + "Dawson disease" + "panencephalitis, SUBACUTE sclerosing" "triphalangeal thumb and brachyectrodactyly syndrome" "triphalangeal thumbs brachyectrodactyly" "triphalangeal thumbs with brachyectrodactyly" @@ -92240,8 +92234,8 @@ "area hypothalamica rostralis" "preoptic hypothalamic region" "area praeoptica" - "preoptic hypothalamic area" "area preoptica" + "preoptic hypothalamic area" "preoptic region" "regio hypothalamica anterior" "nuclei preoptici" @@ -92373,8 +92367,8 @@ "Oktandisaeure" "1,8-Octanedioic acid" "hexamethylenedicarboxylic acid" - "octane-1,8-dioic acid" "Suberinsaeure" + "octane-1,8-dioic acid" "1,6-dicarboxyhexane" "Korksaeure" "1,6-Hexanedicarboxylic acid" @@ -92905,8 +92899,8 @@ "amyotrophy-fat tissue anomaly syndrome" "amyotrophy fat tissue anomaly" "nodular erythema digital changes" - "GN" "GN" + "GN" "cranio osteoarthropathy" "ACNINV1" "acne inversa, familial" @@ -95172,9 +95166,6 @@ "chrysalides" "activation of heart contraction" "stimulation of heart contraction" - "multicellular organism metabolic process" - "metabolism resulting in cell growth" - "metabolic process resulting in cell growth" "ceca" "caeca" "diabetes mellitus, noninsulin-dependent, 2" @@ -96932,8 +96923,8 @@ "sialidosis" "iridogoniodysgenesis syndrome" "vitamin or cofactor transport" - "SS" "SS" + "SS" "brachial plexus neuritis" "bursa" "polymorphonuclear leucocyte" @@ -97379,13 +97370,13 @@ "basal cell tumour" "basal cell tumor" "basal cell neoplasm" - "blood serum importin subunit alpha-6 amount" "Strümpell disease" + "blood serum importin subunit alpha-6 amount" "radiation pneumonitis" + "blood serum nucleosome-remodeling factor subunit BPTF amount" "abdominal obesity-metabolic syndrome 1" "metabolic syndrome type X" "dysmetabolic syndrome X" - "blood serum nucleosome-remodeling factor subunit BPTF amount" "pancreatic lymphoma" "pancreas lymphoma" "lymphoma of the pancreas" @@ -97398,9 +97389,9 @@ "blood serum phosphoserine phosphatase amount" "Proximal 11p deletion syndrome" "11p11.2 deletion" - "brachycephaly, trichomegaly, and developmental delay" "Hyperuricaemia" "High blood uric acid level" + "brachycephaly, trichomegaly, and developmental delay" "blood serum dynein light chain Tctex-type 3 amount" "blood serum max-interacting protein 1 amount" "neurological disorder" @@ -97655,8 +97646,8 @@ "female reproductive system tumor" "gynecologic neoplasm" "H1334" - "HR1" "GM17828 cell" + "HR1" "uterine corpus soft tissue neoplasm" "mixed endometrial stromal and smooth muscle neoplasm" "Stromomyoma" @@ -97711,17 +97702,17 @@ "Diphyllobothrium disease or disorder" "Diphyllobothrium infectious disease" "Diphyllobothriasis" + "Achaearanea tepidarorum" + "Parasteatoda tepidariorum (Koch, 1841)" + "Achaearanea tepidariorum" + "common house spider" + "Theridion tepidariorum" "hemolytic-uremic syndrome without diarrhoea with B factor anomaly" "hemolytic-uremic syndrome without diarrhea with B factor anomaly" "aHUS with B factor anomaly" "hemolytic uremic syndrome, atypical, susceptibility to, type 4" "D-HUS with B factor anomaly" "atypical HUS with B factor anomaly" - "Achaearanea tepidarorum" - "Parasteatoda tepidariorum (Koch, 1841)" - "Achaearanea tepidariorum" - "common house spider" - "Theridion tepidariorum" "adenoma - prostate" "benign adenoma of prostate" "prostate gland adenoma" @@ -97757,9 +97748,9 @@ "Color, Hair" "MTDPS8B" "blood huntingtin-interacting protein 1-related protein amount" - "retinal dystrophy with inner nuclear layer and ganglion cell anomalies" "Pigment anomaly - ectrodactyly - hypodontia" "Acro-dermato-ungual-lacrimal-tooth syndrome" + "retinal dystrophy with inner nuclear layer and ganglion cell anomalies" "X-linked intellectual disability, Renpenning type" "X-linked intellectual disability due to PQBP1 mutations" "blood pro-MCH amount" @@ -97808,9 +97799,9 @@ "autosomal dominant spastic paraplegia 29" "rIL-33" "4-acetamidobutanoate" + "blood cadherin-22 amount" "level of PC(16:0_16:1) in blood serum" "blood serum PC(16:0_16:1) amount" - "blood cadherin-22 amount" "C3 deficiency" "classic complement early component deficiency caused by mutation in C3" "C3 classic complement early component deficiency" @@ -98185,9 +98176,9 @@ "Familial wooly hair syndrome" "Hereditary woolly hair syndrome" "Familial woolly hair syndrome" + "UPD(15)pat" "cutaneous lymphangioma" "skin lymphangioma" - "UPD(15)pat" "blood serum Phosphatidylcholine (18:2_20:1) amount" "blood serum tripartite motif-containing protein 72 amount" "Lutz-Lewandowsky epidermodysplasia verruciformis" @@ -98274,10 +98265,10 @@ "Echovirus Infections" "Echovirus caused disease or disorder" "Echovirus infectious disease" - "blood serum small ribosomal subunit protein eS4, X isoform amount" "Percent Hemoglobin C" "HGBCHGB" "Hemoglobin C/Total Hemoglobin" + "blood serum small ribosomal subunit protein eS4, X isoform amount" "Abnormality of GI blood vessels" "Abnormality of GI blood vessels" "Abnormality of gastrointestinal vasculature" @@ -98624,10 +98615,10 @@ "chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome" "Dilated Virchow-Robin spaces" "Perivascular spaces" - "glucose level" "Forsius-Eriksson type ocular albinism" "Forsius-Eriksson syndrome" "AIED" + "glucose level" "Perinatal lethal Gaucher disease" "pulpitis" "inflammation of dental pulp" @@ -98857,8 +98848,8 @@ "emphysema, pulmonary" "Rapid breathing" "Pascual-Castroviejo syndrome type 2" - "O'Donnell-Pappas syndrome" "H157" + "O'Donnell-Pappas syndrome" "GM17831 cell" "Interleukin-18 levels" "IL-18 levels" @@ -99136,11 +99127,11 @@ "hemolytic-uremic syndrome without diarrhea with C3 anomaly" "hemolytic uremic syndrome, atypical, susceptibility to, type 5" "atypical HUS with C3 anomaly" - "NOG-SSD" "Hypokaluria" "Low urine potassium levels" "Hypokaliuria" "Decreased urinary K" + "NOG-SSD" "blood (R)-oleoylcarnitine amount" "rare inborn error of magnesium ion transport" "inborn error of magnesium ion transport" @@ -99158,10 +99149,10 @@ "VATER association" "VACTERL Association" "blood serum IgG receptor FcRn large subunit p51 amount" + "blood thymidine phosphorylase amount" "Actinobacillus pleuropneumoniae serovar 1 strain 4074" "Actinobacillus pleuropneumoniae 4074" "Kowarski syndrome" - "blood thymidine phosphorylase amount" "dermatopathia pigmentosa reticularis" "3,3',4,4'-tetrachloro-1,1'-biphenyl" "blood serum long-chain fatty acid transport protein 2 amount" @@ -99468,25 +99459,25 @@ "subarachnoid space of neuraxis" "intellectual disability, Mietens-Weber type" "congenital cataracts" - "MHC class II expression deficiency" - "immunodeficiency by defective expression of HLA class type 2" - "HLA class 2-negative SCID" - "HLA class 2-negative severe combined immunodeficiency" - "major histocompatibility complex class II expression deficiency" - "SCID due to absent class II HLA antigens" "Devic's syndrome" "Neuromyelitis Optica Spectrum Disorder" "Devic disease" "Devic syndrome" "Devic's disease" "neuromyelitis optica" + "MHC class II expression deficiency" + "immunodeficiency by defective expression of HLA class type 2" + "HLA class 2-negative SCID" + "HLA class 2-negative severe combined immunodeficiency" + "major histocompatibility complex class II expression deficiency" + "SCID due to absent class II HLA antigens" "nucleic acid library preparation" "nucleic acid library construction" "library construction" "response to HCTZ" "blood ubiquitin/ISG15-conjugating enzyme E2 L6 amount" - "medial popliteal nerve" "combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome" + "medial popliteal nerve" "blood serum TBC1 domain family member 5 amount" "11-cyclopropyl-4-methyl-5,11-dihydro-6H-dipyrido[3,2-b:2',3'-e][1,4]diazepin-6-one" "Nevirapine" @@ -99605,8 +99596,8 @@ "lactulose mannitol test" "LacMan ratio" "SM 14:0" - "blood partitioning defective 3 amount" "X-linked recessive" + "blood partitioning defective 3 amount" "blood serum Sterol ester (27:1/18:1) amount" "Glanzmann thrombasthenia" "blood serum motile sperm domain-containing protein 1 amount" @@ -99800,11 +99791,11 @@ "OCULOPHARYNGODISTAL MYOPATHY 2" "oculopharyngodistal myopathy 2" "OPDM2" + "Gershoni-Baruch-Leibo syndrome" "ATP-dependent H4NAD(P)OH dehydratase activity" "ATP-dependent H(4)NAD(P)OH dehydratase activity" "female inflorescence" "carpellate inflorescence" - "Gershoni-Baruch-Leibo syndrome" "pyruvate metabolism" "methyl methanesulfonate" "blood serum SH3KBP1-binding protein 1 amount" @@ -99970,10 +99961,10 @@ "mandibular series" "blood cyclin-dependent kinase inhibitor 1 amount" "osteoglophonic dwarfism" - "blood CLIP-associating protein 1 amount" "resistant cancer" "refractory malignant neoplasm" "refractory cancer" + "blood CLIP-associating protein 1 amount" "granular cell carcinoma" "granular cell carcinoma (morphologic abnormality)" "granular cell adenocarcinoma" @@ -100169,7 +100160,6 @@ "blood probable ATP-dependent RNA helicase DDX53 amount" "blood serum hydroxyacylglutathione hydrolase-like protein amount" "blood serum inosine triphosphate pyrophosphatase amount" - "Ray-Peterson-Scott syndrome" "tumour of hypopharynx" "hypopharynx tumor" "tumor of hypopharynx" @@ -100184,6 +100174,7 @@ "neoplasm of hypopharynx" "hypopharynx neoplasm (disease)" "hypopharyngeal tumour" + "Ray-Peterson-Scott syndrome" "Ventricular Hypertrophies, Left" "Hypertrophy, Left Ventricular" "Ventricular Hypertrophy, Left" @@ -100330,12 +100321,12 @@ "uterus disease" "disease of uterus" "disease or disorder of uterus" + "complement activation, lectin pathway disease" + "disorder of complement activation, lectin pathway" "NIH/3T3" "NIH-3T3" "3T3" "NIH 3T3" - "complement activation, lectin pathway disease" - "disorder of complement activation, lectin pathway" "blood serum aldo-keto reductase family 1 member C3 amount" "CardMesP2" "CardMes" @@ -100439,8 +100430,8 @@ "benign pharynx tumour" "pharynx benign neoplasm" "benign pharynx neoplasm" - "pharyngeal neoplasm benign" "benign pharynx tumor" + "pharyngeal neoplasm benign" "serum norclozapine measurement" "bone marrow stroma" "3-amino-2-methylpropanoate" @@ -100998,12 +100989,20 @@ "Xq27.3-q28 microduplication syndrome" "SM 16:0" "embryonic central brain mushroom body" + "blood pre-B-cell leukemia transcription factor-interacting protein 1 amount" "cavity of compartment of abdomen" "cavity of abdominal compartment" "space of abdominal compartment" - "blood pre-B-cell leukemia transcription factor-interacting protein 1 amount" - "blood serum Sterol ester (27:1/18:0) amount" "blood serum glutathione S-transferase mu 5 amount" + "blood serum Sterol ester (27:1/18:0) amount" + "Late eruption of milk teeth" + "Late eruption of primary teeth" + "Delayed eruption of baby teeth" + "Delayed eruption of milk teeth" + "Late eruption of baby teeth" + "Delayed eruption of deciduous teeth" + "Delayed primary teeth eruption" + "blood serum IQ domain-containing protein F3 amount" "Lyme borreliosis" "Lyme neuroborreliosis" "Bannworth's syndrome" @@ -101017,14 +101016,6 @@ "Steere's disease" "neurological Lyme disease" "Borrelia" - "Late eruption of milk teeth" - "Late eruption of primary teeth" - "Delayed eruption of baby teeth" - "Delayed eruption of milk teeth" - "Late eruption of baby teeth" - "Delayed eruption of deciduous teeth" - "Delayed primary teeth eruption" - "blood serum IQ domain-containing protein F3 amount" "maturity-onset diabetes of the young (disease) caused by mutation in INS" "MODY10" "INS maturity-onset diabetes of the young (disease)" @@ -101199,9 +101190,9 @@ "Orbital Cellulitis" "vitamin B1" "sodium dioxido(dioxo)tungsten--water (1/2)" + "blood serum cytohesin-2 amount" "Albright hereditary osteodystrophy - PHP Ia" "AHO - PHP Ia" - "blood serum cytohesin-2 amount" "Rajab-Spranger syndrome" "Lethal variant of Simpson-Golabi-Behmel syndrome" "SGBS2" @@ -101298,9 +101289,9 @@ "ESLD" "end stage liver disease (decompensated liver disease)" "end stage liver disease" - "blood serum caveolin-3 amount" "Low blood sugar" "Hypoglycaemia" + "blood serum caveolin-3 amount" "blood serum myosin-binding protein C, slow-type amount" "blood serum ubiquinone biosynthesis protein COQ7 amount" "response to silicon dioxide trait" @@ -101341,10 +101332,10 @@ "myelosclerosis" "bone marrow fibrosis" "idiopathic bone marrow fibrosis" - "CIMF" "CIMF" - "AMM" + "CIMF" "AMM" + "AMM" "myelofibrosis, somatic" "myelosclerosis with myeloid metaplasia" "chronic idiopathic myelofibrosis" @@ -101884,9 +101875,6 @@ "growth hormone producing pituitary gland adenoma" "somatotroph adenoma" "trauma measurement" - "variant Creutzfeldt Jakob disease" - "variant Creutzfeldt-Jakob disease" - "vCJD" "congenital IGHD type III" "isolated growth hormone deficiency type III" "X-linked isolated growth hormone deficiency" @@ -101906,6 +101894,9 @@ "cortical senile cataract" "lens cortex senile cataract" "blood serum beta-defensin 135 amount" + "variant Creutzfeldt Jakob disease" + "variant Creutzfeldt-Jakob disease" + "vCJD" "Trisomy 2q23.1" "Dup(2)(q23.1)" "balantidiasis" @@ -102425,10 +102416,10 @@ "Red and swollen gums" "Gingival inflammation" "Inflamed gums" - "USH" - "Retinitis pigmentosa - deafness" "immunodeficiency type 24" "SCID due to CTPS1 deficiency" + "USH" + "Retinitis pigmentosa - deafness" "autoimmune encephalitis" "dHMN5" "Distal spinal muscular atrophy type 5" @@ -102598,8 +102589,8 @@ "ovarian disorder" "disorder of ovary" "ovary disease or disorder" - "Ovarian Disorder" "ovary disease" + "Ovarian Disorder" "disease ovarian" "disease or disorder of ovary" "disease of ovary" @@ -102636,12 +102627,12 @@ "2-amino-3-(1-methyl-1H-imidazol-4-yl)propanoic acid" "1-methylhistidine" "blood E3 ubiquitin-protein ligase RNF4 amount" - "Pityriasis versicolor (disorder)" - "infection by Pityrosporum furfur" "Malassezia furfur infection" - "pityriasis versicolor" - "Tinea Versicolor" + "Pityriasis versicolor (disorder)" "Infection by Pityrosporum furfur" + "Tinea Versicolor" + "pityriasis versicolor" + "infection by Pityrosporum furfur" "thrombophilia due to activated protein C resistance" "thrombophilia 2 due to activated protein C resistance" "blood Val-Leu amount" @@ -102965,11 +102956,11 @@ "Thumb deformity" "Abnormality of the thumb" "Abnormality of the thumbs" - "hyperplasia, thymus" "GATA2 deficiency with susceptibility to MDS/AML" "GATA2 deficiency" "dyskeratosis congenita and related telomere biology disorder" "blood serum defensin beta 136 amount" + "hyperplasia, thymus" "(2R)-2-hydroxyoctadecanoate" "(R)-2-hydroxyoctadecanoate" "AO3" @@ -103018,8 +103009,8 @@ "NLRP12 familial cold autoinflammatory syndrome" "familial cold autoinflammatory syndrome type 2" "NAPS12" - "HBs seropositivity" "blood interferon-induced, double-stranded RNA-activated protein kinase amount" + "HBs seropositivity" "SMDCD" "spondylometaphyseal dysplasia with corneal dystrophy" "SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY" @@ -103162,9 +103153,9 @@ "larval pharyngeal sense organ" "X-organ of Keilin" "hpo" + "SEC61A1 deficiency" "Long-lasting pain" "Chronic pain" - "SEC61A1 deficiency" "corpora cardiaca" "blood serum 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2 amount" "Black Populations" @@ -103411,16 +103402,16 @@ "Fragaria ananassa" "strawberry" "Fragaria virginiana x Fragaria chiloensis" - "craniocervical region paraganglioma" - "paraganglioma of craniocervical region" - "paraganglioma of the head and neck" - "head and neck paraganglioma" - "paraganglioma of head and neck" "Rec8 syndrome" "Rec(8) syndrome" "Recombinant chromosome 8 syndrome" "San Luis Valley syndrome" "Duplication 8q/deletion 8p" + "craniocervical region paraganglioma" + "paraganglioma of craniocervical region" + "paraganglioma of the head and neck" + "head and neck paraganglioma" + "paraganglioma of head and neck" "acampomelic campomelic dysplasia" "CDR measurement" "EA.hy926 cell" @@ -103508,8 +103499,8 @@ "Other forms of heart disease (disorder)" "Disorder of the circulatory system" "cardiovascular disorder" - "Certain sequelae of myocardial infarction, not elsewhere classified" "PERICARDIAL DISEASE NEC" + "Certain sequelae of myocardial infarction, not elsewhere classified" "DISEASES OF THE CIRCULATORY SYSTEM" "Other heart disease" "Ill-defined descriptions and complications of heart disease" @@ -103827,7 +103818,6 @@ "GYG1 polyglucosan body myopathy" "polyglucosan body myopathy caused by mutation in GYG1" "blood fibronectin type III domain-containing protein 4 amount" - "purine nucleoside metabolism" "Orchititis" "Orchitis" "Inflammation of testis" @@ -103837,6 +103827,7 @@ "testisitis" "Inflammation of testis (disorder)" "testis inflammation" + "purine nucleoside metabolism" "SPDRS" "infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome" "salt-and-pepper syndrome" @@ -103952,9 +103943,9 @@ "Chlamydial infection" "ganglion cervicale superius" "lipoprotein A-IV levels" - "dimethyl (2E)-but-2-enedioate" "scarlet runner bean" "Phaseolus multiflorus" + "dimethyl (2E)-but-2-enedioate" "rectal squamous carcinoma" "squamous cell carcinoma of the rectum" "rectal squamous cell carcinoma" @@ -104237,6 +104228,7 @@ "Hanhart Syndrome" "Jussieu syndrome" "blood serum multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 amount" + "Carney triad" "Streptococcus coelicolor" "Nocardia coelicolor" "Cladothrix coelicolor" @@ -104244,7 +104236,6 @@ "Streptomyces coelicolor subspecies coelicolor" "Streptomyces calicolor" "Actinomyces coelicolor" - "Carney triad" "blood serum neutrophil defensin 1 (human) amount" "blood serum interleukin-15 amount" "floorplate r2" @@ -104730,6 +104721,10 @@ "Defective erythropoiesis" "RCB0009" "fils syndrome" + "branched-chain aminotransferase deficiency" + "HVLI" + "hypervalinemia and hyperleucine-isoleucinemia" + "hypervalinemia or hyperleucine-isoleucinemia" "Bell Palsy" "paralysis Of Facial nerve" "facial nerve paralysis" @@ -104739,10 +104734,6 @@ "palsy of facial nerve" "Bell palsy" "facial nerve palsy" - "branched-chain aminotransferase deficiency" - "HVLI" - "hypervalinemia and hyperleucine-isoleucinemia" - "hypervalinemia or hyperleucine-isoleucinemia" "Anterior synechiae" "Iridocorneal synechia" "Cornea-iris adhesion" @@ -105297,10 +105288,10 @@ "Muscle, Soleus" "soleus" "brain activation measurement" - "Congenital major airway collapse" "(2S)-2-(6-methoxynaphthalen-2-yl)propanoic acid" "naproxen" "Naproxen" + "Congenital major airway collapse" "olfactory I" "olfactory nerve [I]" "nervus olfactorius [i]" @@ -105429,15 +105420,15 @@ "COLO-800" "Citalopram" "rac-1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-1,3-dihydro-2-benzofuran-5-carbonitrile" - "inclusion blennorrhoea" - "Chlamydial conjunctivitis" + "inclusion conjunctivitis" "Trachoma" + "Chlamydial conjunctivitis" + "inclusion blennorrhoea" "Conjunctivitis, Inclusion" "Inclusion blennorrhoea" - "inclusion blenorrhea" - "inclusion conjunctivitis" - "neonatal Chlamydia conjunctivitis" "adult inclusion conjunctivitis" + "neonatal Chlamydia conjunctivitis" + "inclusion blenorrhea" "disease or disorder of liver" "Liver disorder in pregnancy unspecified (disorder)" "LD - Liver disease" @@ -105498,9 +105489,6 @@ "blood serum protein LSM12 amount" "ovary cystic teratoma" "blood serum transcription factor HES-3 amount" - "chronic rhinosinusitis" - "sinusitis, chronic" - "chronic sinusitis" "CEPT deficiency" "high density lipoprotein cholesterol level QTL 10" "familial hyperalphalipoproteinemia" @@ -105514,6 +105502,9 @@ "KRT14-related autosomal recessive epidermolysis bullosa simplex" "KRT14-related autosomal recessive EBS" "EBS, autosomal recessive K14" + "chronic rhinosinusitis" + "sinusitis, chronic" + "chronic sinusitis" "Perrault syndrome caused by mutation in HSD17B4" "HSD17B4 Perrault syndrome" "Perrault syndrome type 1" @@ -105900,8 +105891,8 @@ "renal epithelial oncocytic tumour" "kidney oncocytoma" "oncocytoma of kidney" - "oncocytoma of the kidney" "kidney oncocytic neoplasm" + "oncocytoma of the kidney" "renal epithelial oncocytic tumor" "renal epithelial oncocytic neoplasm" "Huntington disease-like 2" @@ -106125,6 +106116,7 @@ "SPAX4" "Autosomal recessive spastic ataxia type 4" "46,XY DSD due to impaired androgen production" + "Pseudotoxoplasmosis syndrome" "tumor of uterine corpus" "body of uterus neoplasm" "body of uterus tumor" @@ -106161,7 +106153,6 @@ "corpus uteri tumor" "response to HHT" "response to omacetaxine mepesuccinate" - "Pseudotoxoplasmosis syndrome" "Jasmonic acid" "{(1R,2R)-3-oxo-2-[(2Z)-pent-2-en-1-yl]cyclopentyl}acetic acid" "(2R)-3-hydroxy-2-[(9Z,12Z)-octadeca-9,12-dienoyloxy]propyl 2-(trimethylazaniumyl)ethyl phosphate" @@ -106259,17 +106250,17 @@ "malignant pancreatic Endocrine tumor" "pancreatic Endocrine neoplasm" "blood cyclic AMP-responsive element-binding protein 1 amount" + "blood serum dihydropyrimidinase-related protein 3 amount" "hereditary spherocytosis caused by mutation in SPTA1" "HS3" "hereditary spherocytosis 3" "SPTA1 hereditary spherocytosis" "SPH3" - "blood serum dihydropyrimidinase-related protein 3 amount" "blood enoyl-[acyl-carrier-protein] reductase, mitochondrial amount" "leiomyomatosis peritonealis disseminata" "diffuse peritoneal leiomyomatosis" - "LPD" "LPD" + "LPD" "DPL" "DPL" "leiomyomatosis peritonealis disseminate" @@ -107435,11 +107426,11 @@ "disease of skeletal muscle tissue" "Flank pain" "blood serum dihydropyrimidinase-related protein 4 amount" + "pars interarticularis" "paranasal sinus Schneiderian papilloma of maxillary sinus" "Schneiderian papilloma of the maxillary sinus" "maxillary sinus Schneiderian papilloma" "maxillary sinus paranasal sinus Schneiderian papilloma" - "pars interarticularis" "partial trisomy of chromosome 5q" "partial trisomy of the long arm of chromosome type 5" "partial duplication of chromosome 5q" @@ -107582,12 +107573,12 @@ "CME W2" "W2" "CME_W2" + "salmon louse" "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 83" "epileptic encephalopathy, early infantile, 83" "DEE83" "developmental and epileptic encephalopathy 83" "EIEE83" - "salmon louse" "blood carcinoembryonic antigen-related cell adhesion molecule 5 amount" "Ehrlichia chaffeensis Arkansas" "blood choline transporter-like protein 4 amount" @@ -107679,9 +107670,6 @@ "Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome" "Syndrome of ocular and facial anomalies, telecanthus and deafness" "Diaphragmatic hernia-exomphalos-hypertelorism syndrome" - "encephalomalacia" - "Encephalomalacia" - "Encephalomalacia (disorder)" "blood serum cyclin-dependent kinase 2-associated protein 1 amount" "isolated ventriculoarterial discordance" "congenitally uncorrected transposition of the great vessels" @@ -107689,6 +107677,9 @@ "D-TGA" "congenitally uncorrected transposition of the great arteries" "ventriculoarterial discordance with atrioventricular concordance" + "encephalomalacia" + "Encephalomalacia" + "Encephalomalacia (disorder)" "Salmonella kentucky" "glandula sudorifera apocrina" "2p21 contiguous gene deletion syndrome" @@ -107811,12 +107802,12 @@ "blood serum protein N-terminal glutamine amidohydrolase amount" "blood serum ubiquitin-conjugating enzyme E2 N amount" "EDS VIIB" - "Beckwith-Wiedemann syndrome due to imprinting defect of type 11p15" "HPDE-6/E6E7" "HPDE-6E6E7" "HPDE-6_E6E7" "HPDE6-E6E7-HPV" "Pancreatic duct cells E6E7" + "Beckwith-Wiedemann syndrome due to imprinting defect of type 11p15" "(2R)-2-hydroxy-3-[(5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoyloxy]propyl phosphate" "blood CREB/ATF bZIP transcription factor amount" "N,N-dimethylguanosine" @@ -107873,13 +107864,13 @@ "Salmonella thompson" "blood serum thioredoxin domain-containing protein 5 amount" "blood serum Ras-related protein Rab-7a amount" - "ureter schwannoma" "neurilemmoma of the ureter" "neurilemmoma of ureter" "ureteral neurilemmoma" "ureteral schwannoma" "ureter neurilemmoma" "schwannoma of the ureter" + "ureter schwannoma" "hypermethioninemia due to glycine N-methyltransferase deficiency" "GNMT deficiency" "Glycine N-methyltransferase deficiency" @@ -108066,11 +108057,11 @@ "adenocarcinoma of the cardia of the stomach" "NK.49Cl+94+.Sp" "blood serum dehydrogenase/reductase SDR family member 9 amount" + "blood serum U6 snRNA-associated Sm-like protein LSm4 amount" "Hypopigmented eyebrow" "Depigmented eyebrow" "White eyebrow" "Pale eyebrow" - "blood serum U6 snRNA-associated Sm-like protein LSm4 amount" "DIPG" "DIPG" "diffuse intrinsic pontine glioma" @@ -108285,13 +108276,13 @@ "grey mouse lemur" "gray mouse lemur" "Alopecia-epilepsy-oligophrenia syndrome, Moynahan type" + "TAG 56:9" "fetal haemoglobin measurement" "Fetal Hemoglobin" "HbF levels" "HGBF" "Hemoglobin F" "fetal hemoglobin levels" - "TAG 56:9" "Lopes-Gorlin syndrome" "iPS NIHi11" "blood serum tripeptidyl-peptidase 1 amount" @@ -108619,13 +108610,13 @@ "medulla spinalis" "blood serum syntaxin-8 amount" "SPGF46" + "body of uterus primitive neuroectodermal tumor" "malignant peripheral neuroectodermal tumor of the corpus uteri" "malignant peripheral neuroectodermal tumour of the corpus uteri" "body of uterus primitive neuroectodermal tumour" "primitive neuroectodermal tumour of body of uterus" "peripheral neuroectodermal cancer of the corpus uteri" "primitive neuroectodermal tumor of body of uterus" - "body of uterus primitive neuroectodermal tumor" "gastric (stomach) squamous cell cancer" "stomach squamous cell carcinoma" "gastric squamous cell carcinoma" @@ -108674,10 +108665,10 @@ "AML, GF-1 Gene Mutation" "AML, GATA1 gene mutation" "AML, NF-E1 Gene Mutation" + "self reported health" "cAIHA" "cAHA" "cold AIHA" - "self reported health" "blood serum sulfotransferase 2A1 amount" "generalised lipodystrophy-progeroid features-severe intellectual disability syndrome" "generalized lipodystrophy-progeroid features-severe intellectual disability syndrome" @@ -108868,10 +108859,10 @@ "blood plasma 9,10-DiHOME amount" "mitochondrial tryptophanyl-tRNA synthetase deficiency" "neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures" - "blood serum cyclin-dependent kinase 2-associated protein 2 amount" "SPAX3" "ARSAL" "Autosomal recessive spastic ataxia type 3" + "blood serum cyclin-dependent kinase 2-associated protein 2 amount" "conical cornea" "keratoconus (disease)" "keratoconus" @@ -108960,8 +108951,8 @@ "TB - Tuberculosis" "Tuberculosis of other specified organs" "Tuberculoma (finding)" - "DLBCL" "DLBCL" + "DLBCL" "diffuse large B-cell lymphoma" "blood serum LIM domain transcription factor LMO4 amount" "ulceration of vulva" @@ -109190,9 +109181,9 @@ "spermatozoon" "spermatozoid" "L-leucyl-L-phenylalanine" - "loiasis" "blood serum elongation factor 1-gamma amount" "blood serum Ras-related protein Rab-7b amount" + "loiasis" "blood serum translational activator of cytochrome c oxidase 1 amount" "medulloblastoma with extensive nodularity" "cerebellar neuroblastoma" @@ -109577,11 +109568,11 @@ "eyeball of camera-type eye tumour" "Cancers, Eye" "eyeball of camera-type eye neoplasm" - "LGMDR27" "Genetic 46,XY DSD of endocrine origin" + "LGMDR27" "HCC-78" - "specific developmental disorder" "blood serum protein Muted amount" + "specific developmental disorder" "blood serum guanine deaminase amount" "Congenital ichthyosis - microcephalus - quadriplegia" "Ciliophora infectious disease" @@ -109859,8 +109850,8 @@ "glioblastoma" "glioblastoma (disease)" "grade IV astrocytic neoplasm" - "GBM" "GBM" + "GBM" "spongioblastoma multiforme" "glioblastoma multiforme" "grade IV astrocytoma" @@ -110657,8 +110648,8 @@ "CHITD" "blood serum RING finger protein 141 amount" "green mud crab" - "PA-TU-8988T" "8988 T" + "PA-TU-8988T" "ACC 162" "8988-T" "rapid ejaculation" @@ -110745,8 +110736,8 @@ "malignant vagina neoplasm" "cancer of vagina" "malignant tumor of the vagina" - "malignant neoplasm of vagina" "malignant vaginal neoplasm" + "malignant neoplasm of vagina" "ADAMTS5 measurement" "GM17173 cell" "trumpet lily" @@ -110999,6 +110990,14 @@ "Heliothis (Helicoverpa) armigera" "cotton bollworm" "Helicoverpa armigera (Hubner, 1808)" + "Thin nares" + "Small nostrils" + "Narrow nostrils" + "Thin nostrils" + "Naris, slit-like" + "Narrow nares" + "Slit-like nostrils" + "Naris, narrow" "Nongerminomatous germ cell tumor" "Nongerminomatous germ cell tumour" "Nongerminomatous germ cell tumour Including central nervous system" @@ -111009,14 +111008,6 @@ "non-dysgerminomatous germ cell tumor" "Nongerminomatous germ cell tumor Including central nervous system" "non-dysgerminomatous germ cell tumour" - "Thin nares" - "Small nostrils" - "Narrow nostrils" - "Thin nostrils" - "Naris, slit-like" - "Narrow nares" - "Slit-like nostrils" - "Naris, narrow" "partial duplication of the long arm of chromosome type 17" "partial trisomy of chromosome 17q" "partial trisomy of the long arm of chromosome 17" @@ -111065,6 +111056,7 @@ "SW-527" "SW 527" "transthyretin " + "blood ketohexokinase amount" "classical mantle cell lymphoma" "LCM" "LCM" @@ -111072,7 +111064,6 @@ "MCL" "mantle cell lymphoma" "mantle zone lymphoma" - "blood ketohexokinase amount" "Clayton Smith-Donnai syndrome" "Native American myopathy" "Bailey-Bloch congenital myopathy" @@ -111176,11 +111167,11 @@ "TREMOR, HEREDITARY ESSENTIAL, 6" "tremor, hereditary essential, 6" "ETM6" - "blood serum carcinoembryonic antigen-related cell adhesion molecule 19 amount" "polyostotic sclerosing histiocytosis" "Erdheim Chester Disease" "lipogranulomatosis" "Erdheim-Chester disease" + "blood serum carcinoembryonic antigen-related cell adhesion molecule 19 amount" "Scholte-Begeer-van Essen syndrome" "blood serum hypoxanthine-guanine phosphoribosyltransferase amount" "adult RDS" @@ -111198,8 +111189,8 @@ "EMG: neurogenic findings" "EMG: neurogenic changes" "EMG: neurogenic abnormalities" - "GATA6 related congenital heart disease with or without pancreatic agenesis or neonatal diabetes" "blood serum semaphorin-4G amount" + "GATA6 related congenital heart disease with or without pancreatic agenesis or neonatal diabetes" "Dihomo-linoleate (20:2N6)" "Osteosclerosis of bones" "Increased bone mineral density" @@ -111400,10 +111391,10 @@ "malignant heart tumour" "malignant tumor of heart" "malignant Cardiac tumor" + "malignant tumour of the heart" "Cardiac neoplasm, malignant" "malignant tumour of heart" "malignant neoplasm of heart" - "malignant tumour of the heart" "blood serum von Willebrand factor A domain-containing protein 2 amount" "syncytial trophoblast" "syntrophoblast layer" @@ -111440,8 +111431,8 @@ "IgA memory B lymphocyte" "IgA memory B-cell" "IgA memory B-lymphocyte" - "Premature ejaculation" "blood serum alpha-actinin-1 amount" + "Premature ejaculation" "blood glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 amount" "IGHD IB" "dwarfism of Sindh" @@ -111696,13 +111687,13 @@ "myocarditis, acute" "cholangiocarcinoma, malignant" "intrahepatic bile duct cancer (cholangiocarcinoma)" - "CC" "CC" + "CC" "adult primary cholangiocellular carcinoma" "Cholangiocellular carcinoma" "cholangiocarcinoma, intrahepatic and extrahepatic bile ducts (adenocarcinoma)" - "CCA" "CCA" + "CCA" "cholangiosarcoma" "cholangiocarcinoma" "bile duct cancer" @@ -111734,6 +111725,7 @@ "PSEN2 familial isolated dilated cardiomyopathy" "cardiomyopathy, dilated, type 1V" "dilated cardiomyopathy type 1V" + "PQ interval" "HPRT-related gout" "HPRT-related hyperuricemia" "HPRT partial deficiency" @@ -111743,7 +111735,6 @@ "hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency" "hyperuricemia, HRPT-related, X-linked recessive" "Kelley-Seegmiller syndrome" - "PQ interval" "manganese molecular entity" "kidney pelvis sarcomatoid transitional cell carcinoma" "infiltrating renal pelvis urothelial carcinoma, sarcomatoid variant" @@ -111778,10 +111769,10 @@ "8-OHdG levels" "classic medulloblastoma" "videokeratography" - "mg/g body weight" "Acute kidney failure" "Acute renal failure" "AKI" + "mg/g body weight" "MEC-2" "Cysticercosis" "pork tapeworm infection" @@ -111875,12 +111866,12 @@ "EJM6" "Kuskokwim disease" "blood serum NF-kappa-B inhibitor beta amount" + "LHCN M2" + "LHCNM2" "laryngeal tuberculosis" "larynx tuberculosis" "Tuberculosis, Laryngeal" "tuberculous laryngitis" - "LHCN M2" - "LHCNM2" "adult central nervous system embryonal carcinoma" "adult CNS embryonal carcinoma" "Central nervous system embryonal carcinoma" @@ -111950,13 +111941,6 @@ "neck tumor" "tumor of neck" "neck neoplasm (disease)" - "BASD2" - "congenital bile acid synthesis defect type 2" - "AKR1D1 congenital bile acid synthesis defect" - "CBAS2" - "bile acid synthesis defect, congenital, type 2" - "cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency" - "congenital bile acid synthesis defect caused by mutation in AKR1D1" "tumor of the ileum" "ileum neoplasm (disease)" "tumor of ileum" @@ -111970,6 +111954,13 @@ "ileal neoplasm" "ileum tumor" "ileal tumor" + "BASD2" + "congenital bile acid synthesis defect type 2" + "AKR1D1 congenital bile acid synthesis defect" + "CBAS2" + "bile acid synthesis defect, congenital, type 2" + "cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency" + "congenital bile acid synthesis defect caused by mutation in AKR1D1" "blood serum lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial amount" "muscular dystrophy Congenital, LMNA-related" "congenital muscular dystrophy LMNA-related" @@ -112276,16 +112267,16 @@ "Forsius-Eriksson type ocular albinism" "FORSIUS-Eriksson type ocular albinism" "Aland island eye disease" - "blood serum killer cell immunoglobulin-like receptor 3DL1 amount" "metastatic malignant neoplasm in the colon" "metastatic neoplasm to the colon" "metastatic tumor to the colon" "metastatic tumour to the colon" "metastatic malignant neoplasm to the colon" "oropharynx anthrax infection" - "expansion sequencing" + "blood serum killer cell immunoglobulin-like receptor 3DL1 amount" "rhizodermis" "epiblem" + "expansion sequencing" "central nervous system benign neoplasm" "DEE61" "epileptic encephalopathy, early infantile, 61" @@ -112696,6 +112687,8 @@ "Caffey disease" "cortical congenital hyperostosis" "infantile cortical hyperostosis" + "46,XY partial testicular dysgenesis" + "46,XY PGD" "isolated complex I deficiency" "isolated NADH-ubiquinone reductase deficiency" "NADH coenzyme Q reductase deficiency" @@ -112703,8 +112696,6 @@ "isolated NADH-coenzyme Q reductase deficiency" "complex 1 mitochondrial respiratory chain deficiency" "isolated NADH-CoQ reductase deficiency" - "46,XY partial testicular dysgenesis" - "46,XY PGD" "blood serum transmembrane protein 106A amount" "trisomy 17q12" "chromosome 17q12 duplication syndrome" @@ -113114,13 +113105,13 @@ "Narcoleptic Syndrome" "Syndromes, Narcoleptic" "Gelineau's Syndromes" - "XPA" "Bromus inermis Leyss." "Bromopsis inermis" "Hungarian brome grass" "Bromopsis inermis (Leyss.) Holub" "awnless brome grass" "smooth brome grass" + "XPA" "blood sphingomyelin phosphodiesterase amount" "blood serum microphthalmia-associated transcription factor amount" "thiamine-responsive dysfunction syndrome" @@ -113388,14 +113379,14 @@ "Venous tree organ part" "Venous subtree" "venous vessel" - "T+B+ SCID" - "T-cell positive B-cell positive SCID" "tympanic membrane disorder" "disease of tympanic membrane" "disease or disorder of tympanic membrane" "disorder of tympanic membrane" "tympanic membrane disease or disorder" "tympanic membrane disease" + "T+B+ SCID" + "T-cell positive B-cell positive SCID" "Loboa loboi" "Stickler syndrome type 1" "Neisseria gonorrhoeae caused iridocyclitis (disease)" @@ -113522,6 +113513,8 @@ "GM17179 cell" "craniofacial anomalies and anterior segment dysgenesis syndrome" "phosphatidylcholine 40:5" + "blood serum arylsulfatase K amount" + "blood serum Phosphatidylinositol (18:1_18:1) amount" "HTLV-1-associated myelopathy/tropical spastic paraparesis" "Paraparesis, Tropical Spastic" "TSP" @@ -113534,13 +113527,11 @@ "HTLV-associated myelopathy" "Human T-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis" "Tropical spastic paralysis" - "blood serum arylsulfatase K amount" - "blood serum Phosphatidylinositol (18:1_18:1) amount" - "blood sperm equatorial segment protein 1 amount" "blood serum progonadoliberin-2 amount" + "blood sperm equatorial segment protein 1 amount" "blood amyloid beta precursor like protein 1 amount" - "blood serum tether containing UBX domain for GLUT4 amount" "blood serum nucleolysin TIAR amount" + "blood serum tether containing UBX domain for GLUT4 amount" "blood serum transcription cofactor vestigial-like protein 4 amount" "cornea epidermoid carcinoma" "corneal squamous cell carcinoma" @@ -113620,13 +113611,13 @@ "blood serum mesoderm development candidate 2 amount" "anatomical entity phosphatidylinositol amount" "blood serum phospholipase A and acyltransferase 3 amount" + "Geospiza cornirostris" + "strabismus, susceptibility to" + "GM14478 cell" "Missed heart beat" "Palpitations" "Skipped heart beat" "Heart palpitations" - "Geospiza cornirostris" - "strabismus, susceptibility to" - "GM14478 cell" "Neutrophilic Metamyelocytes" "NEUTMM" "transitional cell carcinoma of ovary" @@ -113718,7 +113709,6 @@ "WS" "blood D-dopachrome decarboxylase amount" "(2R)-2-hydroxy-4-methylpentanoate" - "(R)-2-hydroxy-4-methylpentanoate" "Hypocrea lixi" "Trichoderma harizianum" "Trichoderma harzianum" @@ -113886,9 +113876,9 @@ "multiple café-au-lait syndrome" "multiple cafe-au-lait spots" "anti-HEV antibody measurement" + "Abnormality of serine family amino acid metabolism" "blood serum NudC domain-containing protein 2 amount" "blood serum small ribosomal subunit protein eS19 amount" - "Abnormality of serine family amino acid metabolism" "neoplasm of endocardium" "endocardium tumor" "tumor of endocardium" @@ -114159,9 +114149,10 @@ "amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, X-linked dominant" "amyotrophic lateral sclerosis 15, with or without frontotemporal dementia" "blood serum cytoskeleton-associated protein 4 amount" - "malignant neoplasm of meningeal cluster" + "meningeal cancer" "malignant meningeal tumor" "cancer of meningeal cluster" + "malignant neoplasm of meningeal cluster" "malignant meningeal cluster neoplasm" "malignant meninges tumour" "cancer of meninges" @@ -114177,7 +114168,6 @@ "malignant meninges tumor" "cancer of the meninges" "meningeal tumors, malignant" - "meningeal cancer" "congenital dislocation of hip" "congenital hip dysplasia" "developmental dysplasia of the hip" @@ -114398,9 +114388,9 @@ "vascular tissue tumor" "tumour of vascular tissue" "tumor of vascular tissue" - "vascular system tumor" "vascular system neoplasm" "tumors, vascular" + "vascular system tumor" "vascular neoplasm" "vascular tissue neoplasm" "acheiropodia" @@ -114703,10 +114693,6 @@ "Severe mental retardation" "Early and severe mental retardation" "(2R,4aS,6aS,12bR,14aS,14bR)-10-hydroxy-2,4a,6a,9,12b,14a-hexamethyl-11-oxo-1,2,3,4,4a,5,6,6a,11,12b,13,14,14a,14b-tetradecahydropicene-2-carboxylic acid" - "Congenital dyserythropoietic anemia type 1" - "CDA type 1" - "CDA I" - "CDA type I" "blood serum enoyl-CoA Delta isomerase 1, mitochondrial amount" "primary thymic epithelial tumor type A" "thymoma type A" @@ -114716,6 +114702,10 @@ "thymoma, medullary" "medullary thymoma" "(2R)-3-[(4Z,7Z,10Z,13Z,16Z)-docosa-4,7,10,13,16-pentaenoyloxy]-2-hydroxypropyl 2-(trimethylammonio)ethyl phosphate" + "Congenital dyserythropoietic anemia type 1" + "CDA type 1" + "CDA I" + "CDA type I" "blood serum G0/G1 switch protein 2 amount" "synovial bursa inflammation" "inflammation of synovial bursa" @@ -114790,12 +114780,6 @@ "blood serum endophilin-A1 amount" "Tritrichomonas vaginalis" "Occipital atretic cephalocele - unusual facies - large feet" - "trachea carcinoma" - "carcinoma of trachea" - "carcinoma of the trachea" - "tracheal carcinoma" - "cancer of the trachea" - "Ca trachea" "autosomal dominant Charcot-Marie-Tooth disease type 2C" "TRPV4 Charcot-Marie-Tooth disease type 2" "HMSN2C" @@ -114806,6 +114790,12 @@ "hereditary motor and sensory neuropathy type IIc" "4,4'-(1,1-dioxido-3H-2,1-benzoxathiole-3,3-diyl)diphenol" "Phenol red" + "trachea carcinoma" + "carcinoma of trachea" + "carcinoma of the trachea" + "tracheal carcinoma" + "cancer of the trachea" + "Ca trachea" "contact dermatitis/eczema" "contact dermatitis" "dermatitis, venenata" @@ -114835,13 +114825,13 @@ "spermatogenic failure 23" "lissencephaly type 2" "blood parvalbumin alpha amount" + "blood Ala-Leu amount" "chromosome 18 duplication" "trisomy 18" "E3 trisomy" "Edwards syndrome" "trisomy type 18" "complete trisomy 18 syndrome" - "blood Ala-Leu amount" "LPC 22:6" "KIF7 hydrolethalus syndrome" "hydrolethalus syndrome 2" @@ -115164,13 +115154,13 @@ "WHO grade I ependymal tumor" "subependymal astrocytoma" "GCPS" + "NCS" "renal nutcracker syndrome" "Left renal vein entrapment syndrome" "RNS" "nutcracker syndrome" "left renal vein entrapment syndrome" "Renal Nutcracker Phenomenon" - "NCS" "diglycerides" "Diglyceride" "erythrokeratodermia variabilis et progressiva 4" @@ -115260,7 +115250,6 @@ "developmental delay with short stature, dysmorphic features, and sparse hair 1" "diphtamide deficiency syndrome" "DEDSSH1" - "NCIT:C16523" "hypomaturation amelogenesis imperfecta" "FLG gene expression measurement" "Meningitis, Meningococcal" @@ -115270,11 +115259,11 @@ "Tuberculosis, Renal" "Tuberculosis of kidney" "tuberculosis of kidney" - "fibroblastic disease" "Tyrosine hydroxylase-deficient dopa-responsive dystonia" "Tyrosine hydroxylase deficiency" "DYT5b" "Autosomal recessive Segawa syndrome" + "fibroblastic disease" "memory B-cell" "memory B lymphocyte" "memory B-lymphocyte" @@ -115284,6 +115273,12 @@ "Humero-radial fusion" "ml/l" "blood proline-serine-threonine phosphatase-interacting protein 2 amount" + "ventral midline glia" + "midline glia" + "MGM" + "anterior midline glia" + "AMG" + "MGA" "malignant tumor of the germ cell" "malignant germ cell neoplasm" "malignant tumour of the germ cell" @@ -115295,12 +115290,6 @@ "germ cell cancer" "germ cell tumor, malignant" "malignant tumor of germ cell" - "ventral midline glia" - "midline glia" - "MGM" - "anterior midline glia" - "AMG" - "MGA" "glycogenosis type 15" "glycogen storage disease type XV" "glycogenosis type XV" @@ -115389,13 +115378,13 @@ "papillary adenoma of the extrahepatic bile duct" "extrahepatic bile duct papillary adenoma" "papillary adenoma of extrahepatic bile duct" + "spinal cord ischemia" "Hirschsprung disease and intellectual disability due to monosomy 2q22" "Mowat-Wilson syndrome due to monosomy type 2q22" "Hirschsprung disease and intellectual disability due to 2q22 microdeletion" "Mowat-Wilson syndrome due to del(2)q(22)" "Hirschsprung disease and intellectual disability due to del(2)(q22)" "Mowat-Wilson syndrome due to 2q22 microdeletion" - "spinal cord ischemia" "medullary chromaffin cell of adrenal gland" "endocrine physiology" "endocrine physiological process" @@ -115774,12 +115763,12 @@ "Job syndrome" "Autosomal dominant HIES" "Hyperimmunoglobulin E-recurrent infection syndrome" - "adenosquamous breast carcinoma" - "breast adenosquamous carcinoma" "GJA1 hypoplastic left heart syndrome" "hypoplastic left heart syndrome 1" "hypoplastic left heart syndrome type 1" "hypoplastic left heart syndrome caused by mutation in GJA1" + "adenosquamous breast carcinoma" + "breast adenosquamous carcinoma" "acquired coagulation protein disease" "acquired coagulation factor deficiency" "Cerebellar ataxia - intellectual disability - optic atrophy - skin abnormalities" @@ -116092,11 +116081,11 @@ "8-[(E)-2-(3-chlorophenyl)ethenyl]-1,3,7-trimethyl-3,7-dihydro-1H-purine-2,6-dione" "human mesenchymal stem cell from adipose tissue" "hMSC-AT" - "blood serum peripheral plasma membrane protein CASK amount" "Pelizaeus-Merzbacher brain sclerosis" "PMD" "Sudanophilic leukodystrophy, Paelizeus-Merzbacher type" "Diffuse familial brain sclerosis" + "blood serum peripheral plasma membrane protein CASK amount" "AML, Monosomy 7" "Meckel syndrome, type 3" "Meckel syndrome caused by mutation in TMEM67" @@ -116124,6 +116113,8 @@ "lobular carcinoma of the breast" "tibial longitudinal meromelia, unilateral" "PA/A" + "socioeconomic factors" + "class" "SCAR1" "AOA2" "Ataxia - oculomotor apraxia type 2" @@ -116422,7 +116413,6 @@ "malignant middle Ear tumor" "malignant middle Ear tumour" "malignant tumor of the middle Ear" - "Scleroderma Polymyositis Overlap Syndrome" "endodermal sinus tumor of the ovary" "ovary yolk sac tumor" "endodermal sinus neoplasm of ovary" @@ -116456,6 +116446,7 @@ "bone of extremity" "free limb bone" "bone of limb" + "Scleroderma Polymyositis Overlap Syndrome" "Type 1 Diabetes Mellitus" "DMI UNSPF UNCNTRLD" "DIABETES MELLITUS TYPE 01" @@ -116565,7 +116556,6 @@ "CH12.LX cell" "blood serum paralemmin amount" "blood serum lung adenoma susceptibility protein 2 amount" - "benign tumor of the lung" "benign tumour of the lung" "benign tumor of lung" "benign neoplasm of lung" @@ -116575,6 +116565,7 @@ "benign lung tumour" "benign lung tumor" "benign lung neoplasm" + "benign tumor of the lung" "blood serum sushi domain-containing protein 3 amount" "refractory drug response" "lack of drug effect" @@ -117009,10 +117000,10 @@ "blood serum nuclear receptor ROR-gamma amount" "blood serum protein lin-7 homolog A amount" "blood serum EH domain-containing protein 4 amount" + "acquired lactic acidosis" "osteogenic tissue" "calcium tissue" "osseous tissue" - "acquired lactic acidosis" "blood serum Sterol ester (27:1/17:0) amount" "tucker syndrome" "chronic cervicitis (disease)" @@ -117292,8 +117283,8 @@ "middle aortic syndrome" "mid-aortic dysplastic syndrome" "coarctation of the abdominal aorta" - "nonspecific immune response" "innate immunity" + "nonspecific immune response" "response to cytarabine trait" "Rubinstein-Taybi Syndrome" "Rubinstein syndrome" @@ -117314,11 +117305,11 @@ "pharyngeal squam. cell carcinoma" "blood serum endophilin-B1 amount" "blood cell surface hyaluronidase CEMIP2 amount" - "perinatal jaundice due to hepatocellular damage" "insulin secretion rate measurement" "group A streptococci" "Streptococcus sp. (group A)" "group A streptococcus" + "perinatal jaundice due to hepatocellular damage" "intellectual disability-loss of expressive language-facial dysmorphism syndrome" "SOFM" "tyrosinemia type III" @@ -117410,8 +117401,8 @@ "AFib" "Auricular Fibrillation" "Fibrillations, Atrial" - "AF - Atrial fibrillation" "atrial fibrillation" + "AF - Atrial fibrillation" "Fibrillation, Atrial" "Fibrillations, Auricular" "Auricular Fibrillations" @@ -117608,13 +117599,13 @@ "pyropoikilocytosis" "pyropoikilocytosis, hereditary" "Alport deafness-nephropathy" + "adenoid cystic carcinoma of submandibular gland" + "adenoid cystic carcinoma of the submandibular gland" + "submandibular gland adenoid cystic carcinoma" "RP93" "retinitis pigmentosa 93" "field mustard" "Brassica rapa L." - "adenoid cystic carcinoma of submandibular gland" - "adenoid cystic carcinoma of the submandibular gland" - "submandibular gland adenoid cystic carcinoma" "ovarian clear cell malignant adenofibroma" "ovarian clear cell adenocarcinofibroma" "blood serum proteasome subunit alpha type-3 amount" @@ -117715,8 +117706,8 @@ "trophoblastic neoplasm" "tumour of trophoblast" "trophoblastic tumour (qualifier value)" - "trophoblastic tumour" "trophoblast tumour" + "trophoblastic tumour" "neoplasm of trophoblast" "trophoblastic neoplasms" "tumor of trophoblast" @@ -117812,8 +117803,8 @@ "haematopoietic tumour of central nervous system" "central nervous system haematopoietic neoplasms" "hematopoietic and lymphoid system neoplasm of central nervous system" - "hematopoietic neoplasm of the CNS" "central nervous system haematopoietic and lymphoid system neoplasm" + "hematopoietic neoplasm of the CNS" "hematopoietic neoplasm of central nervous system" "hematopoietic tumor of central nervous system" "hematopoietic neoplasm of the central nervous system" @@ -117846,7 +117837,6 @@ "keratoderma" "keratosis" "blood serum methyltransferase-like protein 11A amount" - "phosphatidylcholine 42:1" "CASP8" "blood serum protein S100-A8 amount" "Precursor Plasma Cells" @@ -117855,6 +117845,7 @@ "non-infectious iridocyclitis" "Bacteroides gingivalis" "ABOLM" + "phosphatidylcholine 42:1" "blood serum interferon alpha-1/13 amount" "L-prolyl-(4R)-4-hydroxy-L-proline" "GM17247 cell" @@ -119012,23 +119003,23 @@ "secondary polycythemia" "meningitis caused by human poliovirus" "PLPM" - "blood serum X antigen family member 2 amount" "Vigna unguiculata subsp. unguiculata Unguiculata Group" "Vigna unguiculata subsp. unguiculata (Unguiculata Group)" "Vigna sinensis" "Vigna unguiculata Unguiculata Group" "cowpea" + "blood serum X antigen family member 2 amount" + "Swelling of ureter" + "Dilated ureter" + "Wide ureter" + "Ureteral dilatation" + "Megaureter" "primary gallbladder lymphoma" "lymphoma of gallbladder" "lymphoma of the gallbladder" "lymphoma of gall bladder" "gall bladder lymphoma" "gallbladder lymphoma" - "Swelling of ureter" - "Dilated ureter" - "Wide ureter" - "Ureteral dilatation" - "Megaureter" "hyperplastic" "hyperplasia" "Hyperplastic" @@ -119092,11 +119083,6 @@ "Pyrococcus furiosus strain DSM 3638" "Pyrococcus furiosus str. DSM 3638" "Pyrococcus furiosus DSM3638" - "sarcoma of orbit" - "sarcoma of the orbit" - "orbital sarcoma" - "sarcoma of orbit of skull" - "orbit of skull sarcoma" "testis disease" "disease of testis" "testicular disorder" @@ -119105,9 +119091,14 @@ "testicular disease" "disease or disorder of testis" "disorder of testis" + "sarcoma of orbit" + "sarcoma of the orbit" + "orbital sarcoma" + "sarcoma of orbit of skull" + "orbit of skull sarcoma" "blood serum neurogenin-3 amount" - "blood serum BTB/POZ domain-containing protein KCTD1 amount" "N(1),N(1)'-(2,5-diaminocyclohexa-2,5-diene-1,4-diylidene)dibenzene-1,4-diamine" + "blood serum BTB/POZ domain-containing protein KCTD1 amount" "Tsukahara syndrome" "Giuffré-Tsukahara syndrome" "Hemifacial hyperplasia - strabismus" @@ -119145,8 +119136,8 @@ "chronic myelogenous leukemia (CML)" "chronic granulocytic leukemia" "chronic myelogenous leukemia, BCR-ABL1 positive" - "CML" "CML" + "CML" "myeloid leukemia, chronic" "CML - chronic myelogenous leukaemia" "hematopoeitic - chronic myelocytic leukaemia (CML)" @@ -119189,8 +119180,8 @@ "neuroectodermal tumour" "primitive neuroectodermal neoplasm" "neuroectodermal tumor" - "PNET" "PNET" + "PNET" "CMT2F" "blood serum peptidyl-glycine alpha-amidating monooxygenase amount" "nephronophthisis 11" @@ -119326,11 +119317,11 @@ "Diaphyseal bowing of long bones" "Bowing of long bones" "Bowed long bones" - "vaginal enterocele" "blepharophimosis types 1 and 2 due to a point mutation" + "vaginal enterocele" + "goiter, multinodular" "blood serum endothelial lipase amount" "blood serum EP300-interacting inhibitor of differentiation 3 amount" - "goiter, multinodular" "laryngo-tracheo-esophageal diastema" "laryngo-tracheo-esophageal cleft" "Larnygeotracheoesophageal cleft" @@ -119489,11 +119480,11 @@ "Hyperpituitarism" "blood serum N-myc-interactor amount" "epilepsy due to FCD" - "NK.49Cl-94-.Sp" - "CD94- Ly49I-negative NK cell" "erythema palmare hereditarium" "Red palms disease" "lane disease" + "NK.49Cl-94-.Sp" + "CD94- Ly49I-negative NK cell" "stria vascularis of cochlea" "stria vascularis" "vascular stripe of cochlear duct" @@ -119857,12 +119848,12 @@ "Distal deletion 10q" "proteasome-associated autoinflammatory syndrome 3 and digenic forms" "proteasome-associated autoinflammatory syndrome 3" + "blood serum 2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial amount" + "Medial Collateral Ligament of the Knee" "hamartoma of stomach" "stomach hamartoma (disease)" "hamartoma of the stomach" "gastric hamartomatous polyp" - "blood serum 2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial amount" - "Medial Collateral Ligament of the Knee" "JIA" "Juvenile rheumatoid arthritis (disorder)" "Juvenile idiopathic arthritis" @@ -120020,6 +120011,9 @@ "blood serum B melanoma antigen 3 amount" "blood serum tribbles homolog 2 amount" "Thoracic part of aorta" + "Recurrent infections-bone marrow fibrosis-nephromegaly syndrome" + "Congenital neutropenia-myelofibrosis-nephromegaly syndrome" + "Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome" "taurocyamine phosphate, N(omega)-phosphotaurocyamine" "Avulavirus infectious disease" "Avulavirus Infections" @@ -120030,9 +120024,6 @@ "epithelioid cell sarcoma" "epithelioid sarcoma" "blood protein LTO1 homolog amount" - "Recurrent infections-bone marrow fibrosis-nephromegaly syndrome" - "Congenital neutropenia-myelofibrosis-nephromegaly syndrome" - "Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome" "blood serum transcription factor MafG amount" "blood serum ephrin type-A receptor 8 amount" "protoporphyria, erythropoietic, 2" @@ -120305,6 +120296,7 @@ "blood serum pantothenate kinase 1 amount" "Mosaic trisomy type 22" "hemoglobin count" + "hemoglobin levels" "Hb" "haemoglobin measurement" "Potter sequence - cleft lip/palate - cardiopathy" @@ -120340,9 +120332,9 @@ "Pemphigoid, Bullous" "Bullous pemphigoid" "Skin rash" + "Upshaw-Schulman syndrome" "blepharophimosis-epicanthus inversus-ptosis due to a CNV" "blepharophimosis types 1 and 2 due to copy number variations" - "Upshaw-Schulman syndrome" "blood serum Bcl-2-modifying factor amount" "PLAN" "INAD" @@ -120590,9 +120582,9 @@ "Activated phosphoinositide 3-kinase δ syndrome" "PALSI" "APDS" - "Cleavage:32-cell" "Caliciviridae infectious disease" "Caliciviridae Infections" + "Cleavage:32-cell" "peroxisome biogenesis disorder 14B" "PEX11B peroxisome biogenesis disorder" "peroxisome biogenesis disorder type 14B" @@ -120612,10 +120604,10 @@ "Sommer-Young-Wee-Frye syndrome" "craniofacial-deafness-hand syndrome" "CDHS" - "PERYTHM" - "primary erythromelalgia" "Monosomy 20p12.3" "Del(20)(p12.3)" + "PERYTHM" + "primary erythromelalgia" "blood serum sideroflexin-5 amount" "Chin with horizontal crease" "Chin with horizontal furrow" @@ -120643,8 +120635,8 @@ "carcinoma of liver cells" "hepatocellular adenocarcinoma" "liver cell carcinoma" - "HCC" "HCC" + "HCC" "primary carcinoma of liver cells" "carcinoma of the liver cells" "hepatocellular carcinoma, somatic" @@ -120731,8 +120723,8 @@ "germ cell tumors, somatic" "testis germ cell tumor" "testicular germ cell neoplasm" - "TGCT" "TGCT" + "TGCT" "germ cell neoplasm of the testis" "testicular germ cell tumor" "germ cell tumour of testis" @@ -121395,8 +121387,8 @@ "syringocystadenoma papilliferum" "papillary syringadenoma (morphologic abnormality)" "naevus syringocystadenomatosus papilliferus" - "SCAP" "SCAP" + "SCAP" "fistulous vegetative verrucous hydradenoma" "papillary Syringadenoma (syringocystadenoma papilliferum)" "papillary syringocystadenoma" @@ -121514,8 +121506,8 @@ "white blood cell count" "white cell count" "WBC" - "blood plexin-B1 amount" "KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome" + "blood plexin-B1 amount" "blood serum COP9 signalosome complex subunit 2 amount" "breasts and/or nipples, aplasia or hypoplasia of" "isolated congenital amastia" @@ -121695,8 +121687,8 @@ "involuntary muscle of gullet" "skin sensitisation" "FTH1-associated iron overload" - "Pulmonary atresia" "PROS" + "Pulmonary atresia" "blood thyrotropin subunit beta amount" "4-[3-(4-tert-butylphenyl)-2-methylpropyl]-2,6-dimethylmorpholine" "cartilaginous element of chondrocranium" @@ -121722,7 +121714,6 @@ "blood serum adhesion G protein-coupled receptor B3 amount" "leg dermatosis" "blood serum gastric inhibitory polypeptide amount" - "blood serum procollagen C-endopeptidase enhancer 2 amount" "hemangioma of intracranial structures" "intracranial hemangioma" "intracranial angioma" @@ -121731,6 +121722,7 @@ "angioma of the intracranial structure" "angioma of intracranial structure" "hemangioma of brain" + "blood serum procollagen C-endopeptidase enhancer 2 amount" "mucinous cystadenofibroma" "blood serum BTB/POZ domain-containing protein KCTD3 amount" "CHANDS" @@ -121784,10 +121776,10 @@ "indole-3-carboxylic acid" "infection by Pasteurella multocida" "blood serum lithostathine-1-beta amount" + "Passwell-Goodman-Siprkowski syndrome" "10x 5' v3 sequencing" "10X 5' v3 sequencing" "10X 5' v3" - "Passwell-Goodman-Siprkowski syndrome" "BTHS" "3-Methylglutaconicaciduria type 2" "MGA type 2" @@ -121959,9 +121951,9 @@ "lung cancer, protection against, autosomal dominant, somatic mutation" "malignant tumor of lung" "malignant tumour of lung" - "lung cancer" - "malignant lung tumor" "lung cancer, susceptibility to, autosomal dominant, somatic mutation" + "malignant lung tumor" + "lung cancer" "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation" "cancer of lung" "malignant neoplasm of the lung" @@ -122415,15 +122407,15 @@ "EDSCLL2" "blood serum mitotic checkpoint serine/threonine-protein kinase BUB1 amount" "prostate cancer stage" + "Visna" + "Ovine encephalomyelitis" + "blood serum carnosine N-methyltransferase amount" "Idiopathic ventricular fibrillation, Brugada type" "Bangungut" "SUNDS" "Sudden unexplained nocturnal death syndrome" "Pokkuri death syndrome" "Dream disease" - "Visna" - "Ovine encephalomyelitis" - "blood serum carnosine N-methyltransferase amount" "blood sarcolemmal membrane-associated protein amount" "blood serum thymidine kinase 2, mitochondrial amount" "SPG55" @@ -122734,10 +122726,10 @@ "GILLESPIE syndrome" "aniridia, cerebellar ataxia, and intellectual disability" "aniridia, cerebellar ataxia, and mental retardation" + "neuroblastoma, susceptibility to, 1, autosomal dominant, somatic mutation" "adult hemangiopericytoma, malignant" "hemangiopericytoma, malignant of adults" "malignant adult hemangiopericytoma" - "neuroblastoma, susceptibility to, 1, autosomal dominant, somatic mutation" "GM17201 cell" "radiation-induced abnormalities" "radiation-induced disorder" @@ -122819,8 +122811,8 @@ "SM-AHN" "SM-AHN" "systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease (morphologic abnormality)" - "SMAHN" "SMAHN" + "SMAHN" "systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease" "systemic mastocytosis with associated clonal hematological non-mast cell lineage disease" "systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease" @@ -122941,8 +122933,8 @@ "developmental delay-epilepsy-neonatal diabetes syndrome" "K ATP associated developmental delay, epilepsy and neonatal diabetes" "blood serum interferon lambda-4 (human) amount" - "N-methyl-D-aspartic acid" "N-Methyl-D-aspartic acid" + "N-methyl-D-aspartic acid" "Marie Unna congenital hypotrichosis" "Hypotrichosis, Marie Unna type" "MUHH" @@ -122975,8 +122967,8 @@ "SKNF1" "dog heartworm nematode" "canine heartworm nematode" - "Antenatal intracerebral haemorrhage" "familial tumoral calcinosis" + "Antenatal intracerebral haemorrhage" "urinary tract inverted papilloma" "inverted urothelial papilloma" "inverted papilloma of urinary tract" @@ -123059,7 +123051,6 @@ "multiple hamartoma syndrome" "odontoma, ameloblastic, malignant" "ameloblastic carcinoma" - "SP-D measurement" "bile duct colloid carcinoma" "mucinous adenocarcinoma of the bile duct" "colloid adenocarcinoma of extrahepatic bile duct" @@ -123090,6 +123081,7 @@ "colloid carcinoma of the bile duct" "colloidal carcinoma of the bile duct" "colloid carcinoma of bile duct" + "SP-D measurement" "Thomas type SCA3" "blood serum cadherin-related family member 3 amount" "Enterococcus flavescens" @@ -123314,9 +123306,6 @@ "blood serum sperm acrosome-associated protein 5 amount" "Dysraphism - cleft lip/palate - limb reduction defects" "Theiler Stage 11a" - "Peanut allergy" - "Allergy to peanuts (disorder)" - "Peanut Hypersensitivity" "Child Mental Disorder" "Mental Disorders Diagnosed in Childhood" "Disorder, Neurodevelopmental" @@ -123330,6 +123319,9 @@ "neurodevelopmental disorder" "Disorders, Neurodevelopmental" "Mental Disorder, Child" + "Peanut allergy" + "Allergy to peanuts (disorder)" + "Peanut Hypersensitivity" "lymphoma of colon" "primary colon lymphoma" "lymphoma of the colon" @@ -123376,8 +123368,8 @@ "malignant hyperthermia susceptibility 1" "L-cysteine" "L-Cysteine" - "Impaired use of nonverbal behaviours" "Impaired use of nonverbal behaviours" + "Impaired use of nonverbal behaviours" "Abnormal nonverbal communicative behavior" "Impaired use of nonverbal behaviors" "Renal hypomagnesemia type 2" @@ -123688,13 +123680,6 @@ "retinal arterial tortuosity" "mixed oligodendroglial and astrocytic tumor" "mixed oligodendroglial and astrocytic tumour" - "AOSD" - "Still's Disease, Adult-Onset" - "Wissler-Fanconi syndrome" - "adult-onset Still's disease" - "adult onset Still's disease" - "Adult-Onset Still's Disease" - "adult-onset Still disease" "autosomal recessive mental retardation" "autosomal recessive non-syndromic intellectual disability" "autosomal recessive non-syndromic mental retardation" @@ -123704,6 +123689,13 @@ "mental retardation, autosomal recessive" "autosomal recessive intellectual disability" "intellectual disability, autosomal recessive" + "AOSD" + "Still's Disease, Adult-Onset" + "Wissler-Fanconi syndrome" + "adult-onset Still's disease" + "adult onset Still's disease" + "Adult-Onset Still's Disease" + "adult-onset Still disease" "blood serum WAP four-disulfide core domain protein 3 amount" "Sveinsson chorioretinal atrophy" "SCRA" @@ -124237,9 +124229,9 @@ "subependymal giant cell astrocytic tumor" "subependymal giant cell astrocytoma (morphologic abnormality)" "subependymal giant cell astrocytic tumour" + "2-oxopentanedioate" "high content screening" "HCS" - "2-oxopentanedioate" "eccrine skin tumour" "eccrine tumor of skin" "eccrine tumor of the skin" @@ -124449,11 +124441,11 @@ "blood frataxin, mitochondrial amount" "X-linked intellectual disability - dystonia - dysarthria" "Partington-Mulley syndrome" + "gene deletion screening" + "gene deletion screen" "RDH5 retinopathy" "level of Cer(d40:2) in blood serum" "blood serum Cer(d40:2) amount" - "gene deletion screening" - "gene deletion screen" "blood serum lymphocyte antigen 75 isoform 4 and LY75-CD302 fusion isoforms V34-2/V33-2 (human) amount" "Increased tyrosine in blood" "Tyrosinemia" @@ -124969,8 +124961,8 @@ "NET" "neuroendocrine neoplasm" "neuroendocrine tumor" - "blood serum DnaJ homolog subfamily A member 2 amount" "blood serum peptidase inhibitor 15 amount" + "blood serum DnaJ homolog subfamily A member 2 amount" "blood serum 26S proteasome non-ATPase regulatory subunit 5 amount" "WEISMANN-NETTER syndrome" "WNS" @@ -125176,7 +125168,6 @@ "SPIROCHETE INFECT" "spirochaetales infections" "blood serum leucine-rich repeat and transmembrane domain-containing protein 1 amount" - "blood serum stathmin amount" "right lower lobe of lung" "right lower lobe" "right caudal lobe of lung" @@ -125184,6 +125175,7 @@ "inferior lobe of right lung" "lower lobe of right lung" "lobus inferior pulmonis dextri" + "blood serum stathmin amount" "tuberculosis of meninges and central nervous system" "Tuberculosis of meninges and central nervous system (disorder)" "intracranial tuberculoma" @@ -125720,20 +125712,20 @@ "short rib-polydactyly syndrome type 2" "neurodegeneration with brain iron accumulation 8" "CMT2L" - "PWS-like" "spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type" "SEMD, MATN3-related" "SEMD, matrilin-3 type" "blood tetraspanin-7 amount" + "PWS-like" "neutropenia, Severe congenital, 7, autosomal recessive" "blood frizzled-8 amount" "neuromast infraorbital" "neuromasts infraorbital" - "level of Cer(d40:1) in blood serum" - "blood serum Cer(d40:1) amount" "compound screen" "compound library screening" "compound library screen" + "level of Cer(d40:1) in blood serum" + "blood serum Cer(d40:1) amount" "blood serum immunoglobulin kappa variable 1-5 (human) amount" "Aspartoacylase deficiency" "ACY2 deficiency" @@ -126082,17 +126074,17 @@ "dermal toxicity" "dermatologic toxicity" "skin toxicity" - "Rotavirus infectious disease" "Rotavirus infection" "Rotavirus disease or disorder" + "Rotavirus infectious disease" "Rotavirus caused disease or disorder" "HCC-2218" "HCC-44" "Virchow-Robin space" "PVS" + "blood serum Ras-related protein Rap-2a amount" "Parietal cortex" "Parietal region" - "blood serum Ras-related protein Rap-2a amount" "anaplastic carcinoma of stomach" "undifferentiated gastric (stomach) cancer" "undifferentiated gastric carcinoma" @@ -126198,8 +126190,8 @@ "brain sarcoma" "primary brain sarcoma" "sarcoma of the brain" - "SCC131" "skin sensitivity to sun" + "SCC131" "Foveal hypoplasia" "pituitary gland non-functioning endocrine neoplasm" "non-functioning pituitary gland tumour" @@ -126271,14 +126263,14 @@ "CDG syndrome type Ih" "ALG8-CDG" "blood serum CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2 amount" + "Adherent earlobe" + "Attached earlobe" "Marburg virus disease" "Marburg Virus Disease" "Marburg disease" "MHF" "Marburg hemorrhagic fever" "Green monkey disease" - "Adherent earlobe" - "Attached earlobe" "DSP striate palmoplantar keratoderma" "keratosis palmoplantaris striata type 2" "striate palmoplantar keratoderma caused by mutation in DSP" @@ -126288,10 +126280,10 @@ "F442A cell" "F442A" "blood serum PRKC apoptosis WT1 regulator protein amount" - "EBS-migr" "Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency" "Mitochondrial encephalo-cardio-myopathy due to mitochondrial respiratory chain complex V deficiency" "Mitochondrial encephalo-cardio-myopathy due to ATP synthase deficiency" + "EBS-migr" "maxillary sinus inverted papilloma" "inverted papilloma of maxillary sinus" "inverted papilloma of the maxillary sinus" @@ -126313,10 +126305,10 @@ "blue peafowl" "Indian peafowl" "blood serum ubiquitin carboxyl-terminal hydrolase 8 amount" - "GM17793 cell" "Sandrow syndrome" "mirror hands and feets-nasal defects syndrome" "laurin-Sandrow syndrome" + "GM17793 cell" "(2S)-2-acetamidobutanedioic acid" "ZikV infection" "Zika virus disease or disorder" @@ -126531,8 +126523,6 @@ "3-(carbamoylamino)propanoic acid" "N-Carbamoyl-beta-alanine" "N-carbamoyl-beta-alanine" - "neuromuscular disease" - "nerve and muscle disorder" "syndromic microphthalmia type 7" "linear skin defects with multiple congenital anomalies" "MCOPS7" @@ -126541,6 +126531,8 @@ "microphthalmia with linear skin defects syndrome" "MIDAS syndrome" "linear skin defects with multiple congenital anomalies type 1" + "neuromuscular disease" + "nerve and muscle disorder" "Mental Deficiency" "Disability, Intellectual" "Intellectual Disability" @@ -126683,8 +126675,8 @@ "Syndromic recessive X-linked ichthyosis" "Syndromic RXLI" "blood tumor protein D54 amount" - "phakomatosis pigmentovascularis type 3" "JIIM" + "phakomatosis pigmentovascularis type 3" "atrioventricular block (disease)" "AVB" "atrioventricular block" @@ -126744,13 +126736,13 @@ "Sulfhemoglobinemia" "Sulfhemoglobinemia (disorder)" "sulfhemoglobinemia" - "MIH" "HYPONYCHIA congenita" "isolated congenital anonychia caused by mutation in RSPO4" "nonsyndromic congenital nail disorder 4" "nonsyndromic congenital nail disorder type 4" "RSPO4 isolated congenital anonychia" "nail disorder, nonsyndromic congenital, type 4" + "MIH" "hereditary reflex epilepsy" "thymus lipoma" "Thymolipomatous hamartoma" @@ -126899,8 +126891,8 @@ "Gastroparalysis" "Gastroparesis syndrome (disorder) [Ambiguous]" "blood serum glutathione-specific gamma-glutamylcyclotransferase 2 amount" - "CLARITHROMYCIN" "O(6)-methylerythromycin" + "CLARITHROMYCIN" "Clarithromycin" "blood serum endoplasmin amount" "DKC1-related disorder" @@ -126945,10 +126937,10 @@ "uterine cervix adenoid cystic carcinoma" "adenoid cystic carcinoma of cervix uteri" "7alpha-hydroxy-3-oxocholest-4-en-26-oic acid" - "SMD-CRD" "thyroid" "phantom bone disease" "essential osteolysis" + "SMD-CRD" "tarp syndrome" "TARP syndrome, X-linked recessive" "Pierre Robin syndrome-congenital heart defect-talipes syndrome" @@ -127106,12 +127098,12 @@ "intermediate grade" "grade II" "moderately differentiated" - "Dissections" "Progressive sensorineural deafness - hypertrophic cardiomyopathy" "Progressive neurosensory deafness - hypertrophic cardiomyopathy" "Progressive neurosensory hearing loss - hypertrophic cardiomyopathy" - "blood serum SCAN domain-containing protein 1 amount" + "Dissections" "infective arthritis" + "blood serum SCAN domain-containing protein 1 amount" "Brodmann area 38, temporopolar" "temporopolar area 38 (H)" "anterior temporal lobe" @@ -127196,9 +127188,9 @@ "pituitary gland disease" "pituitary gland disease or disorder" "disease or disorder of pituitary gland" + "Genetic anterior horn cell disease" "initial segment of nerve" "radix nervi" - "Genetic anterior horn cell disease" "hereditary spastic paraplegia caused by mutation in SPAST" "hereditary spastic paraplegia 4" "autosomal dominant spastic paraplegia type 4" @@ -127336,11 +127328,11 @@ "sarcomatoid transitional cell carcinoma" "Occipital region" "Occipital cortex" - "ethmoid sinus adenoid cystic carcinoma" - "adenoid cystic carcinoma of the ethmoid sinus" "Liddle syndrome" "pseudoaldosteronism" "Liddle's syndrome" + "ethmoid sinus adenoid cystic carcinoma" + "adenoid cystic carcinoma of the ethmoid sinus" "2-(N(omega)-L-arginino)butanedioic acid" "vitamin B9 intake measurement" "blood serum peroxisomal coenzyme A diphosphatase NUDT7 amount" @@ -128027,8 +128019,8 @@ "gastric small cell carcinoma" "small cell carcinoma of stomach" "gastric small cell neuroendocrine carcinoma" - "gastric Oat cell carcinoma" "Oat cell carcinoma of the stomach" + "gastric Oat cell carcinoma" "Oat cell carcinoma of stomach" "Infectious arthritis" "pyogenic arthritis" @@ -128097,11 +128089,11 @@ "HMC18" "alcohol withdrawal syndrome" "alcohol withdrawal" + "macroblepharon-ectropion-hypertelorism-macrostomia syndrome" "mirror movements type 3" "mirror movements 3" "familial congenital mirror movements caused by mutation in DNAL4" "DNAL4 familial congenital mirror movements" - "macroblepharon-ectropion-hypertelorism-macrostomia syndrome" "blood serum ubiquilin-3 amount" "ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation" "ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability" @@ -128178,8 +128170,8 @@ "MD" "Trichopoliodystrophy" "Steely hair disease" - "ES" "ES" + "ES" "Ewing's tumour" "PNET of Thoracopulmonary region" "Ewings sarcoma" @@ -128294,8 +128286,8 @@ "adrenal gland pheochromocytoma" "chromaffin paraganglioma of the adrenal gland" "adrenal medullary paraganglioma" - "PCC" "PCC" + "PCC" "adrenal gland Chromaffinoma" "BMT" "PPH1" @@ -128467,8 +128459,8 @@ "gastroschisis" "laparoschisis" "Gastroschisis (disorder)" - "disorder of stomach" "disease or disorder of stomach" + "disorder of stomach" "stomach disorder" "stomach disease or disorder" "gastropathy" @@ -128493,15 +128485,15 @@ "3-sulfino-L-alanine" "3-Sulfino-L-alanine" "obesity-hypoventilation syndrome" - "Low plasma renin activity" - "Decreased plasma renin activity" - "Suppressed plasma renin activity" - "Decreased circulating renin level" "Loeys-Dietz syndrome 5" "Loeys-Dietz syndrome type 5" "Rienhoff syndrome" "LDS5" "Loeys-Dietz syndrome-5" + "Low plasma renin activity" + "Decreased plasma renin activity" + "Suppressed plasma renin activity" + "Decreased circulating renin level" "esophageal basaloid carcinoma" "basaloid squamous carcinoma of oesophagus" "esophageal basaloid cancer" @@ -128883,8 +128875,6 @@ "myopia 28, autosomal recessive" "MYP28" "paranasal sinus Schneiderian papilloma" - "MACS" - "MAC sorting" "kidney failure, acute" "acute kidney injury" "ARF" @@ -128892,6 +128882,8 @@ "AKI" "GM17240 cell" "blood sorting nexin-9 amount" + "MACS" + "MAC sorting" "blood serum variable charge X-linked protein 1 amount" "heart layer inflammation" "carditis" @@ -128962,9 +128954,6 @@ "LEW/Crl" "LEW/CrlBR" "LEW" - "Mucopolysaccharidosis type 1S" - "MPS1S" - "Mucopolysaccharidosis type IS" "HOOE" "cerebral amyloid angiopathy, ITM2B-related, type 2" "FDD" @@ -128972,6 +128961,10 @@ "cerebellar ataxia, cataract, deafness, and dementia Or psychosis" "familial Danish dementia" "Heredopathia Ophthalmootoencephalica" + "Mucopolysaccharidosis type 1S" + "MPS1S" + "Mucopolysaccharidosis type IS" + "Fainting spell" "oral mucosal injury" "oral mucosa irritation" "oral mucosal lesions" @@ -128979,7 +128972,6 @@ "oral cavity mucosal damage" "stomatitis" "oral mucosal damage" - "Fainting spell" "Mucopolysaccharidosis Type II" "I2S deficiency" "MPS2" @@ -129095,11 +129087,6 @@ "grade III meningioma" "WHO grade III meningioma" "grade 3 meningioma" - "BBGD" - "thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)" - "thiamine-responsive encephalopathy" - "biotin-thiamine-responsive basal ganglia disease" - "BTBGD" "chondroblastoma" "chondroblastoma (disease)" "chondroblastoma of bone" @@ -129115,6 +129102,11 @@ "malignant anus neoplasm" "malignant tumor of the anus" "malignant tumour of the anus" + "BBGD" + "thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)" + "thiamine-responsive encephalopathy" + "biotin-thiamine-responsive basal ganglia disease" + "BTBGD" "USH2" "Usher syndrome type 2" "AG08048 cell" @@ -129298,10 +129290,10 @@ "α-thalassemia" "Alpha thalassaemia" "alpha-Thalassemia" + "Rombo syndrome" "non-syndromic pontocerebellar hypoplasia caused by mutation in AMPD2" "PCH9" "AMPD2 non-syndromic pontocerebellar hypoplasia" - "Rombo syndrome" "carotid arch" "third aortic arch" "3rd arch artery" @@ -129434,10 +129426,10 @@ "blood serum cyclin-dependent kinase 2-interacting protein amount" "syndrome associated with esophageal malformation" "syndromic esophageal malformation" - "blood serum neuroligin-4, Y-linked amount" "infantile hemiplegia" "hemiplegia" "postnatal infantile hemiplegia" + "blood serum neuroligin-4, Y-linked amount" "JBTS4" "JS-R" "Joubert syndrome type 4" @@ -129530,7 +129522,6 @@ "Lactobacillus delbrueckii subsp. bulgaricus str. ATCC BAA-365" "Lactobacillus delbrueckii subsp. bulgaricus Lb-18" "blood serum izumo sperm-egg fusion protein 4 amount" - "blood serum neurexin-2-beta amount" "Weak heart" "Heart failure NOS" "Heart failure, unspecified" @@ -129543,9 +129534,7 @@ "insufficiency, Cardiac" "heart failure" "cardiac insufficiency" - "ichthyosis follicularis-alopecia-photophobia syndrome" - "ichthyosis follicularis-atrichia-photophobia syndrome" - "IFAP syndrome" + "blood serum neurexin-2-beta amount" "phyllodes breast neoplasm" "phyllodes tumor of the breast" "phyllodes breast tumor" @@ -129562,6 +129551,9 @@ "cystosarcoma phyllodes of the breast" "phyllodes neoplasm of breast" "phyllodes tumour of the breast" + "ichthyosis follicularis-alopecia-photophobia syndrome" + "ichthyosis follicularis-atrichia-photophobia syndrome" + "IFAP syndrome" "Chloroquine retinopathy" "breath carbon monoxide measurement" "Loefflerella pseudomallei" @@ -129634,15 +129626,15 @@ "blood serum fibrinogen C domain-containing protein 1 amount" "Methylmalonic aciduria with homocystinuria" "Combined defect in adenosylcobalamin and methylcobalamin synthesis" + "lacrimal apparatus disorder" + "lacrimal apparatus disease" "disease of lacrimal apparatus" "disorder of lacrimal apparatus" + "disorder of lacrimal system" "lacrimal system disease" + "disease or disorder of lacrimal apparatus" "lacrimal system disorder" "lacrimal apparatus disease or disorder" - "lacrimal apparatus disease" - "disorder of lacrimal system" - "disease or disorder of lacrimal apparatus" - "lacrimal apparatus disorder" "Twenty-nail dystrophy" "Onychodystrophy totalis" "blood serum zona pellucida sperm-binding protein 4 amount" @@ -129744,6 +129736,10 @@ "clear cell adenocarcinoma of uterine cervix" "clear cell adenocarcinoma of the uterine cervix" "cervix uteri clear cell adenocarcinoma" + "monostotic fibrous dysplasia (disease)" + "monostotic fibrous dysplasia" + "monostotic fibrous dysplasia of bone" + "Jaffe-Lichtenstein disease" "Tinea disease or disorder" "tinea infection" "Tinea caused disease or disorder" @@ -129753,10 +129749,6 @@ "Tinea" "Tinea infectious disease" "Dermatophytosis-tinea/ringworm" - "monostotic fibrous dysplasia (disease)" - "monostotic fibrous dysplasia" - "monostotic fibrous dysplasia of bone" - "Jaffe-Lichtenstein disease" "blood serum translocon-associated protein subunit alpha amount" "lethal congenital contracture syndrome 1" "lethal congenital contracture syndrome caused by mutation in GLE1" @@ -129799,10 +129791,10 @@ "uterus benign neoplasm" "benign tumor of uterus" "benign tumour of the uterus" - "blood serum Sterol ester (27:1/14:0) amount" "lacrimal gland adenoid cystic carcinoma" "adenoid cystic carcinoma of the lacrimal gland" "adenoid cystic carcinoma of lacrimal gland" + "blood serum Sterol ester (27:1/14:0) amount" "blood serum cilia- and flagella-associated protein 298 (human) amount" "hereditary defective mismatch repair syndrome" "Hereditary colorectal endometrial cancer syndrome" @@ -130198,9 +130190,9 @@ "lipoma of colon" "lipoma of the colon" "colonic lipoma" - "high bone mass OI" "brown mustard" "Indian mustard" + "high bone mass OI" "bile duct squamous cell carcinoma" "extrahepatic bile duct squamous cell carcinoma" "squamous cell carcinoma of the bile duct" @@ -130210,13 +130202,13 @@ "atrophy of optic disk" "atrophy of optic disc" "phosphatidylcholine 40:2" + "Phytophthora megasperma f. sp. glycinea" "Breast enlargement" "Large breast" "Macromastia" "Gigantomastia" "Hypertrophy of the breasts" "Breasts enlarged" - "Phytophthora megasperma f. sp. glycinea" "adenocarcinoma of Thymus" "Thymus adenocarcinoma" "thymus adenocarcinoma" @@ -130778,6 +130770,8 @@ "muscle tissue channelopathy" "muscular channelopathy" "channelopathy of muscle tissue" + "blood serum cold-inducible RNA-binding protein amount" + "Macrocytic dyserythropoietic anaemia" "postural orthostatic tachycardia syndrome" "postural tachycardia syndrome due to NET deficiency" "irritable heart" @@ -130786,14 +130780,12 @@ "orthostatic intolerance due to NET deficiency" "orhtostatic intolerance" "familial orthostatic tachycardia due to norepinephrine transporter deficiency" + "blood serum NACHT, LRR and PYD domains-containing protein 1 amount" "stomach peptic ulcer" "peptic ulcer disease of stomach" "stomach peptic ulcer disease" "gastric ulcer" "gastric ulcer (disease)" - "blood serum cold-inducible RNA-binding protein amount" - "Macrocytic dyserythropoietic anaemia" - "blood serum NACHT, LRR and PYD domains-containing protein 1 amount" "mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency" "MTO1 combined oxidative phosphorylation deficiency" "combined oxidative phosphorylation deficiency caused by mutation in MTO1" @@ -130913,8 +130905,8 @@ "acquired mineral metabolism disease" "haemorrhagic stroke" "blood serum protein WFDC11 amount" - "blood mitochondrial import inner membrane translocase subunit Tim8 A amount" "GM14479 cell" + "blood mitochondrial import inner membrane translocase subunit Tim8 A amount" "blood low-density lipoprotein receptor-related protein 2 amount" "ethmoid bone sinusitis" "ethmoidal sinusitis" @@ -131579,9 +131571,9 @@ "malignant Sex cord-stromal tumour of ovary" "malignant Sex cord-stromal tumor of ovary" "malignant ovarian Sex cord-stromal tumor" - "osteoradionecrosis" "CA" "fingerprint body myopathy" + "osteoradionecrosis" "AML, GUD Gene Mutation" "AML, WT1 gene mutation" "AML, WAGR Gene Mutation" @@ -131686,6 +131678,8 @@ "Constipation" "Dyschezia" "Costiveness" + "HPPD" + "hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome" "Acute middle ear infection" "Abnormality of the nervous system" "Neurological abnormality" @@ -131697,8 +131691,6 @@ "golden hamster" "Microcricetus aureus" "Syrian golden hamster" - "HPPD" - "hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome" "Waardenburg syndrome with upper limb anomalies" "Waardenburg syndrome type III" "Klein-Waardenburg syndrome" @@ -131921,8 +131913,8 @@ "blood serum glutaminase kidney isoform, mitochondrial amount" "embryonal rhabdomyosarcoma (disease)" "rhabdomyosarcoma, somatic" - "ERMS" "ERMS" + "ERMS" "embryonal rhabdomyosarcoma" "rhabdomyosarcoma, embryonal, type 1" "secondary AVN" @@ -132202,23 +132194,23 @@ "CD4-positive, gamma-delta intraepithelial T-cell" "CD4-positive, gamma-delta intraepithelial T lymphocyte" "ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic" - "Vaginal Vault Prolapses" + "pelvic organ prolapse" + "Urogenital Prolapse" "Prolapse, Pelvic Organ" - "Urogenital Prolapses" - "Prolapses, Urogenital" - "Organ Prolapse, Pelvic" - "Vault Prolapse, Vaginal" "Prolapses, Vaginal Vault" - "pelvic organ prolapse" - "Organ Prolapses, Pelvic" - "Vault Prolapses, Vaginal" - "Vaginal Vault Prolapse" "Prolapse, Vaginal Vault" - "Prolapses, Pelvic Organ" - "Pelvic Organ Prolapses" + "Vaginal Vault Prolapse" "POP" + "Vault Prolapses, Vaginal" + "Vault Prolapse, Vaginal" + "Organ Prolapse, Pelvic" + "Vaginal Vault Prolapses" + "Prolapses, Urogenital" + "Prolapses, Pelvic Organ" + "Organ Prolapses, Pelvic" "Prolapse, Urogenital" - "Urogenital Prolapse" + "Urogenital Prolapses" + "Pelvic Organ Prolapses" "autosomal recessive cutis laxa type 2, Debre type" "ARCL2, Debre type" "ARCL2, classic type" @@ -132771,9 +132763,9 @@ "patellofemoral pain syndrome" "patellofemoral stress syndrome" "pulmonary alveolar proteinosis" + "ADMA measurement" "sleep wake disorder" "disorder of sleep-wake cycle" - "ADMA measurement" "blood serum prostaglandin E synthase 3 amount" "phosphatidylcholine O-42:5" "NMNAT1-related retinopathy" @@ -132873,8 +132865,8 @@ "CDG syndrome type IIL" "blood serum eukaryotic translation initiation factor 4 gamma 3 amount" "aldosterone producing adrenal cortex adenoma" - "APAC" "APAC" + "APAC" "Pure aldosterone-secreting adrenocortical carcinoma" "aldosterone producing adrenal cortical adenoma" "aldosterone-producing adrenal cortex adenoma" @@ -132977,8 +132969,8 @@ "middle limb segment of forelimb" "forelimb zygopod" "zeugopod of proximal segment of free upper limb" - "zeugopod of brachial region" "middle limb segment of brachial region" + "zeugopod of brachial region" "zeugopod of forelimb" "lower arm" "blood serum phosphatidylinositol 5-phosphate 4-kinase type-2 beta amount" @@ -133091,7 +133083,6 @@ "classic lattice corneal dystrophy" "LCDI" "lattice corneal dystrophy type 1" - "ovarian primitive germ cell tumor" "Kwashiorkor" "kwashiorkor" "nutritional edema with dyspigmentation of skin and hair" @@ -133101,6 +133092,7 @@ "Kwashiokor" "nutritional edema with dyspigmentation of skin and/or hair" "nutritional oedema with dyspigmentation of skin and/or hair" + "ovarian primitive germ cell tumor" "distal monosomy type 1q" "monosomy 1qter" "telomeric deletion 1q" @@ -133258,12 +133250,12 @@ "Behavioral disorders" "Behavioral changes" "Behavioural/psychiatric abnormality" + "craniosynostosis and dental anomalies" + "Kreiborg-Pakistani syndrome" "Asian desert cutaneous leishmaniasis" "cutaneous leishmaniasis" "zone of skin leishmaniasis" "leproid leishmaniasis" - "craniosynostosis and dental anomalies" - "Kreiborg-Pakistani syndrome" "blood serum interferon alpha-5 amount" "patent arterial duct-bicuspid aortic valve-hand anomalies syndrome" "NME1 measurement" @@ -133893,8 +133885,6 @@ "blood serum aldo-keto reductase family 1 member B10 amount" "blood V-type proton ATPase subunit G 1 amount" "phosphatidylcholine O-42:4" - "Lipid" - "lipids" "paediatric embryonal carcinoma of testis" "pediatric testicular embryonal carcinoma" "childhood embryonal carcinoma of the testis" @@ -133905,6 +133895,8 @@ "pediatric embryonal carcinoma of testis" "testicular embryonal carcinoma of childhood" "childhood testicular embryonal carcinoma" + "Lipid" + "lipids" "diazoxide-resistant hyperinsulinemic hypoglycemia" "fallopian tube papilloma" "fallopian tube serous papilloma" @@ -133927,8 +133919,8 @@ "amygdaloid complex" "archistriatum" "X-linked cerebral adrenoleukodystrophy" - "blood serum nuclear inhibitor of protein phosphatase 1 amount" "Kawashima-Tsuji syndrome" + "blood serum nuclear inhibitor of protein phosphatase 1 amount" "blood 26S proteasome non-ATPase regulatory subunit 1 amount" "Diagnostic Findings" "Signs and Symptoms" @@ -134154,6 +134146,8 @@ "inborn error of sterol metabolic process" "rare inborn error of sterol metabolic process" "inborn sterol metabolic process disorder" + "Pelger-Huet anomaly" + "Pelger-Huet Anomaly" "malignant soft tissue tumor of CNS" "malignant soft tissue neoplasm of CNS" "malignant central nervous system soft tissue tumour" @@ -134180,8 +134174,6 @@ "malignant central nervous system soft tissue neoplasm" "central nervous system mesenchymal non-meningothelial tumor, malignant" "malignant CNS soft tissue neoplasm" - "Pelger-Huet anomaly" - "Pelger-Huet Anomaly" "Ullrich scleroatonic muscular dystrophy" "scleroatonic Ullrich disease" "UCMD" @@ -134215,10 +134207,10 @@ "Pashayan syndrome" "blepharonasofacial malformation syndrome" "phosphatidylcholine O-44:3" + "Mastocytosis - short stature - hearing loss" "Molar tooth sign on brain imaging" "Molar tooth sign on imaging" "Molar tooth sign" - "Mastocytosis - short stature - hearing loss" "blood V-set and immunoglobulin domain-containing protein 10 amount" "Aortic Stenosis, Subvalvular" "subvalvular aortic stenosis" @@ -134227,8 +134219,8 @@ "Charcot-Marie-Tooth disease - pyramidal features" "HMSN 5" "blood serum alpha-internexin amount" - "glycosyl compound metabolism" "blood serum cyclic AMP-dependent transcription factor ATF-3 amount" + "glycosyl compound metabolism" "blood serum peroxisomal sarcosine oxidase amount" "blood serum neuroendocrine protein 7B2 amount" "blood serum chemokine-like protein TAFA-5 amount" @@ -134478,7 +134470,6 @@ "Autoimmune condition" "Autoimmune disease" "Autoimmune disorder" - "blood intraflagellar transport protein 20 amount" "complex partial epilepsy" "Complex partial epileptic seizure" "Psychomotor epilepsy" @@ -134486,6 +134477,7 @@ "Epilepsy, Complex Partial" "epilepsy, psychomotor" "psychomotor epilepsy" + "blood intraflagellar transport protein 20 amount" "spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits" "race" "Ethnicity" @@ -134531,11 +134523,11 @@ "mediastinal tumour" "mediastinum neoplasm (disease)" "refractory plasma cell neoplasm" + "thymus mucoepidermoid carcinoma" "mucoepidermoid carcinoma of the Thymus" "Thymus mucoepidermoid carcinoma" "thymic mucoepidermoid carcinoma" "mucoepidermoid carcinoma of Thymus" - "thymus mucoepidermoid carcinoma" "facial hypertrichosis" "facial hypertrichosis (disease)" "Puerperal cardiomyopathy" @@ -134553,6 +134545,8 @@ "level of PC(16:0_20:4) in blood serum" "blood serum PC(16:0_20:4) amount" "gynaecium" + "neutrophilic progranulocyte" + "neutrophilic premyelocyte" "SD/THE" "Trichohepatoenteric syndrome" "Tricho-hepato-enteric syndrome" @@ -134574,8 +134568,6 @@ "infantile-onset spinocerebellar ataxia-psychomotor delay syndrome" "autosomal recessive cerebellar ataxia-cognitive defect syndrome" "blood serum BTB/POZ domain-containing protein KCTD6 amount" - "neutrophilic progranulocyte" - "neutrophilic premyelocyte" "blood gastrin amount" "ECA5" "epilepsy, childhood absence, susceptibility to, 5" @@ -134621,8 +134613,8 @@ "vaginal squamous neoplasm" "vaginal squamous tumor" "vagina squamous cell neoplasm" - "blood COX assembly mitochondrial protein amount" "nonsyndromic craniosynostosis" + "blood COX assembly mitochondrial protein amount" "silicotuberculoses" "silicotuberculosis" "blood uteroglobin amount" @@ -134653,8 +134645,8 @@ "anthropometry" "anthropometric traits" "AGE measurement" - "hereditary melanoma (disease)" "reticular dystrophy of retinal pigment epithelium" + "hereditary melanoma (disease)" "lipoid adrenal hyperplasia" "CLAH" "Streptomyces griseus subsp. griseus strain NBRC 13350" @@ -135039,12 +135031,6 @@ "Bacillus carotovorus" "Erwinia carotovora" "chondroid hamartoma" - "Prediabetes" - "Prediabetic State" - "borderline diabetes" - "prediabetes syndrome" - "prediabetes" - "prediabetic state" "unilateral multicystic renal dysplasia" "unilateral MCDK" "obesity" @@ -135059,6 +135045,12 @@ "obesity disorder" "Adiposity" "Adiposis" + "Prediabetes" + "Prediabetic State" + "borderline diabetes" + "prediabetes syndrome" + "prediabetes" + "prediabetic state" "spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type" "chondrodysplasia with congenital joint dislocations, CHST3 type" "Kozlowski Celermajer tink syndrome" @@ -135138,8 +135130,8 @@ "ARCL2" "cutis laxa with joint laxity and developmental delay" "inborn error of glucose transport" - "ATP" "adenosine 5'-(tetrahydrogen triphosphate)" + "ATP" "Hearing defect" "Hearing impairment" "Hypacusis" @@ -135174,9 +135166,9 @@ "blood serum G antigen 2D amount" "Lehman syndrome" "lateral meningocele syndrome" - "ALDOSTERONE" - "11beta,21-dihydroxy-3,20-dioxopregn-4-en-18-al" "aldosterone" + "11beta,21-dihydroxy-3,20-dioxopregn-4-en-18-al" + "ALDOSTERONE" "Aldosterone" "blood serum TATA box-binding protein-like 1 amount" "MAT I/III deficiency" @@ -135610,11 +135602,11 @@ "autosomal hereditary disorder" "autosomal inherited disorder" "Constrictive pericarditis (disorder)" - "constrictive pericarditis (disease)" "Pericarditis, Constrictive" - "Constrictive pericarditis" "Constrictive pericarditis NOS (disorder)" + "constrictive pericarditis (disease)" "constrictive pericarditis" + "Constrictive pericarditis" "pinguecula" "genetic cardiac anomaly" "carnitine palmitoyltransferase II deficiency" @@ -135713,6 +135705,8 @@ "Papio hamadryas subsp." "Abnormality of lung veins" "inflammatory response" + "Skin Diseases, Vesiculobullous" + "vesiculobullous skin disease" "tunica mucosa intestini crassi" "mucosa of organ of large intestine" "large intestinal mucosa" @@ -135722,8 +135716,6 @@ "large intestine mucosa of organ" "mucous membrane of large intestine" "large intestine mucous membrane" - "Skin Diseases, Vesiculobullous" - "vesiculobullous skin disease" "nuclear localization signal" "cystic teratoma" "blood serum ATP-dependent 6-phosphofructokinase, muscle type amount" @@ -135750,6 +135742,13 @@ "ovarian squamous cell neoplasm" "ovarian squamous cell tumour" "ovarian squamous cell tumor" + "HP" + "exogen allergic alveolitis" + "extrinsic allergic alveolitis" + "alveolitis" + "allergic form of pneumonitis" + "hypersensitivity pneumonitis" + "allergic pneumonitis" "malignant rectal tumour" "malignant rectum tumor" "carcinoma of rectum" @@ -135767,13 +135766,6 @@ "malignant tumour of rectum" "malignant tumor of rectum" "malignant rectal tumor" - "HP" - "exogen allergic alveolitis" - "extrinsic allergic alveolitis" - "alveolitis" - "allergic form of pneumonitis" - "hypersensitivity pneumonitis" - "allergic pneumonitis" "Anaerocellum thermophilum" "malignant granular cell tumour of skin" "malignant cutaneous granular cell tumour" @@ -135980,11 +135972,11 @@ "Primary renal tubular hypokalemic hypomagnesemia with hypocalciuria" "Monosomy 2q24" "Del(2)(q24)" + "chronic acute hepatic porphyria" + "acute hepatic porphyria, chronic" "oligodendroglioma of the brain" "oligodendroglioma of brain" "brain oligodendroglioma" - "chronic acute hepatic porphyria" - "acute hepatic porphyria, chronic" "blood serum pre-mRNA-splicing regulator WTAP amount" "blood serum sorting nexin-27 amount" "spindle cell nevus" @@ -136156,14 +136148,14 @@ "Dermatomyositis, Childhood Type" "childhood Dermatomyositis" "Childhood Type Dermatomyositis" + "WC00065" + "EST84" "cortical dysplasia, Complex, with Other brain malformations type 1" "TUBB3 complex cortical dysplasia with other brain malformations" "CDCBM1" "complex cortical dysplasia with other brain malformations caused by mutation in TUBB3" "cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation" "complex cortical dysplasia with other brain malformations type 1" - "WC00065" - "EST84" "fibular artery" "arteria fibularis" "thymus papillary adenocarcinoma" @@ -136404,13 +136396,13 @@ "endometrioid stromal sarcoma of the vagina" "endometrioid stromal sarcoma of vagina" "3-HPMA measurement" - "Dietary" - "Diets" "lipodystrophy, cephalothoracic type" "Barraquer-Simons syndrome" "partial progressive lipodystrophy" "APLD" "APLD, susceptibility to" + "Dietary" + "Diets" "single cell ATAC-seq (cell index)" "sci-ATAC-seq" "blood serum DnaJ homolog subfamily C member 17 amount" @@ -136436,13 +136428,13 @@ "squamous cell carcinoma of the middle Ear" "middle ear squamous cell carcinoma" "RCB0008" - "blood serum E3 ubiquitin-protein ligase DTX1 amount" "infection by fasciola" "sheep liver fluke infection" "liver flukes" "fasciola hepatica infection" "fascioliasis" "Fasciolosis" + "blood serum E3 ubiquitin-protein ligase DTX1 amount" "siderosis of globe" "hemosiderosis of camera-type eye" "camera-type eye hemosiderosis" @@ -136671,14 +136663,14 @@ "benign tumor of the adrenal gland" "benign adrenal gland tumor" "benign tumour of the adrenal gland" + "Hereditary vascular retinopathy - Raynaud phenomenon - migraine" + "HVR" "PAX5 precursor B-cell acute lymphoblastic leukaemia" "precursor B-cell acute lymphoblastic leukemia caused by mutation in PAX5" "leukemia, acute lymphoblastic, susceptibility to, 3" "precursor B-cell acute lymphoblastic leukaemia caused by mutation in PAX5" "leukemia, acute lymphoblastic, susceptibility to, type 3" "PAX5 precursor B-cell acute lymphoblastic leukemia" - "Hereditary vascular retinopathy - Raynaud phenomenon - migraine" - "HVR" "granular-lattice corneal dystrophy" "CGD2" "combined granular-lattice corneal dystrophy" @@ -136721,14 +136713,14 @@ "GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT" "GHISID2" "anaerobic balanitis" + "Androgen" + "blood serum fatty acid-binding protein 9 amount" "Carbohydrate deficient glycoprotein syndrome type IIe" "Congenital disorder of glycosylation type 2e" "CDG-IIe" "CDG2E" "Congenital disorder of glycosylation type IIe" "CDG syndrome type IIe" - "Androgen" - "blood serum fatty acid-binding protein 9 amount" "blood thioredoxin domain-containing protein 15 amount" "blood serum major intrinsically disordered Notch2-binding receptor 1 amount" "Shortening of all outermost bones of the fingers" @@ -136984,8 +136976,8 @@ "PFHB" "(10E,12Z)-octadeca-10,12-dienoic acid" "CDC Enteric Group 10" - "DNA sequencing" "Cholestasis, Intrahepatic, of Pregnancy type 3" + "DNA sequencing" "response to phenytoin trait" "nonadecafluorodecanoic acid" "perfluorodecanoic acid" @@ -137396,8 +137388,8 @@ "Kaposi sarcoma" "Kaposi's sarcoma of cornea" "Kaposi's sarcoma" - "KS" "KS" + "KS" "Kaposi's sarcoma of soft tissue" "Kaposi's sarcoma of conjunctiva" "Kaposi's sarcoma of palate" @@ -138079,6 +138071,8 @@ "Actinomyces scabies" "Streptomyces scabies" "blood serum succinate dehydrogenase assembly factor 1, mitochondrial amount" + "Fusarium scirpi" + "blood serum tyrosine-protein phosphatase non-receptor type 7 amount" "anus melanoma (disease)" "melanoma of the anus" "melanoma (disease) of anus" @@ -138089,8 +138083,6 @@ "anus melanoma" "melanoma of anus" "malignant melanoma of the anus" - "Fusarium scirpi" - "blood serum tyrosine-protein phosphatase non-receptor type 7 amount" "blood serum endothelin-3 amount" "L-isoleucylglycine" "classic PKU" @@ -138152,9 +138144,9 @@ "van Maldergem syndrome caused by mutation in FAT4" "van Maldergem syndrome 2" "FAT4 van Maldergem syndrome" - "blood NPC intracellular cholesterol transporter 2 amount" "colour vision deficiency" "color vision deficiency" + "blood NPC intracellular cholesterol transporter 2 amount" "type II NKT cell secreting interleukin-4" "type II NK T-lymphocyte secreting interleukin-4" "type II NK T-cell secreting interleukin-4" @@ -138342,8 +138334,8 @@ "Cerebral Strokes" "CVAs (Cerebrovascular Accident)" "cerebrovascular accident" - "CVA - Cerebrovascular accident" "Cerebrovascular Stroke" + "CVA - Cerebrovascular accident" "Stroke/CVA - undefined" "CVA, cerebrovascular accident" "undetermined stroke" @@ -138417,9 +138409,6 @@ "(2S)-2-amino-5-{[(1S)-1-carboxy-2-methylpropyl]amino}-5-oxopentanoic acid" "L-gamma-glutamyl-L-valine" "blood syntaxin-16 amount" - "Aglossia - adactylia" - "Hanhart syndrome" - "Jussieu syndrome" "Man5GlcNAc2-PP-Dol flippase deficiency" "CDG-In" "CDG1N" @@ -138427,6 +138416,9 @@ "CDG syndrome type In" "Congenital disorder of glycosylation type 1n" "Congenital disorder of glycosylation type In" + "Aglossia - adactylia" + "Hanhart syndrome" + "Jussieu syndrome" "TTN-related myopathy, autosomal dominant" "Low ALP" "Decreased serum alkaline phosphatase" @@ -138686,11 +138678,11 @@ "ICCA syndrome" "paroxysmal kinesigenic dyskinesia and infantile convulsions" "GM14406 cell" + "acute alcoholic Hepatitis" "alcoholic hepatitis" "alcoholic Hepatitis" "acute alcoholic liver disease" "acute alcoholic hepatitis" - "acute alcoholic Hepatitis" "MALME 3M" "MALME-3M" "combined oxidative phosphorylation deficiency caused by mutation in MRPS16" @@ -138753,17 +138745,17 @@ "malignant neoplasm of the parathyroid" "malignant tumour of parathyroid" "dissociative symptom measurement" + "chromosome 7Q deletion" + "M7MLS1" + "myelodysplasia and leukemia syndrome with monosomy 7" + "myelodysplasia and leukaemia syndrome with monosomy 7" + "monosomy 7 of bone marrow" "adhesive capsulitis" "Bursitis" "frozen shoulder" "adhesive capsulitis of shoulder" "Adhesive capsulitis of shoulder" "adhesions-capsulitis,shoulder" - "chromosome 7Q deletion" - "M7MLS1" - "myelodysplasia and leukemia syndrome with monosomy 7" - "myelodysplasia and leukaemia syndrome with monosomy 7" - "monosomy 7 of bone marrow" "(3-endo)-8-methyl-8-azabicyclo[3.2.1]oct-3-yl 3,5-dimethylbenzoate" "Fryns macrocephaly" "blood serum carboxylesterase 3 amount" @@ -138802,6 +138794,7 @@ "piebald trait" "partial albinism" "blood serum T-box transcription factor TBX5 amount" + "Parse Evercode WT v3" "pediatric pilocytic astrocytoma" "pilocytic astrocytoma of childhood" "childhood pilocytic astrocytoma" @@ -138809,7 +138802,6 @@ "bronchiectasis with or without elevated sweat chloride 1" "bronchiectasis with or without elevated sweat chloride 1, modifier of" "bronchiectasis with or without elevated sweat chloride type 1" - "Parse Evercode WT v3" "prostate fibroma" "prostate gland fibroma" "fibroma of the prostate" @@ -138983,8 +138975,8 @@ "glycerol kinase deficiency, X-linked recessive" "branchial dysplasia-intellectual disability-inguinal hernia syndrome" "Lambert syndrome" - "16-hydroxyhexadecanoate" "fibrinogen deficiency" + "16-hydroxyhexadecanoate" "Alcoholic cirrhosis of liver (disorder)" "Alcoholic Cirrhosis" "Portal cirrhosis (disorder)" @@ -139042,7 +139034,6 @@ "Inability to coordinate movements when walking" "Ataxia of gait" "Isolated FSH deficiency" - "blood serum transcription elongation factor A protein-like 5 amount" "Sezary disease" "Sezary's disease" "Sezary lymphoma" @@ -139053,6 +139044,7 @@ "Sézary syndrome" "Sezary syndrome" "Sézary lymphoma" + "blood serum transcription elongation factor A protein-like 5 amount" "hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome" "full NF2" "nonmosaic neurofibromatosis type 2" @@ -139200,13 +139192,13 @@ "thoracic gland" "grayanotoxane-56101416-pentol 23-epoxy- 614-diacetate (2beta3beta6beta14r)-" "Bifid femur - monodactylous ectrodactyly" - "PLA801-95C" - "PLA-801C" "BRIC1" "Bric type 1" "ATP8B1 benign recurrent intrahepatic cholestasis" "benign recurrent intrahepatic cholestasis caused by mutation in ATP8B1" "cholestasis, benign recurrent intrahepatic, type 1" + "PLA801-95C" + "PLA-801C" "Monterey pine" "blood serum fumarylacetoacetase amount" "blood serum E3 ubiquitin-protein ligase RNF149 amount" @@ -139462,9 +139454,9 @@ "epidermoid carcinoma of the anus" "anal squamous cell carcinoma" "epidermoid carcinoma of anus" - "anus squamous cell carcinoma" "squamous cell carcinoma of anus" "squamous cell anal carcinoma" + "anus squamous cell carcinoma" "epidermoid anal carcinoma" "mitochondrial complex IV deficiency, nuclear type 8" "MC4DN8" @@ -140157,15 +140149,15 @@ "Bulging eye" "blood serum chloride intracellular channel protein 4 amount" "Elevated diastolic BP" - "vnc" - "larval ventral ganglion" - "ventral cord" - "subesophageal + T1 + T2 + T3 + A1 + A2 + A3 + A4 + A5 + A6 + A7 + A8 ganglia" "Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency" "46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency" "46,XY disorder of sex development due to LHB deficiency" "46,XY DSD due to luteinizing hormone subunit beta deficiency" "46,XY DSD due to LHB deficiency" + "vnc" + "larval ventral ganglion" + "ventral cord" + "subesophageal + T1 + T2 + T3 + A1 + A2 + A3 + A4 + A5 + A6 + A7 + A8 ganglia" "(2E,4R,5S,6E)-3,5-dimethoxy-4-methyl-7-{2'-[(2S,3E,5E)-7-methylocta-3,5-dien-2-yl][2,4'-bi-1,3-thiazol]-4-yl}hepta-2,6-dienamide" "Bm3 B-lymphocyte" "Bm3 B-cell" @@ -140308,15 +140300,15 @@ "pituitary hormone deficiency, combined, 1" "blood serum forkhead box protein O4 amount" "Thompson-Baraitser syndrome" + "biliary cirrhosis" + "total intestinal aganglionosis" + "aganglionosis, total intestinal" "alcohol-related polyneuropathy" "alcoholic polyneuropathy" "Alcohol-related polyneuropathy" "alcoholic neuropathy" "Alcoholic Neuropathy" "Alcoholic polyneuropathy" - "biliary cirrhosis" - "total intestinal aganglionosis" - "aganglionosis, total intestinal" "1-[(2R,5S)-5-(hydroxymethyl)-2,5-dihydrofuran-2-yl]-5-methylpyrimidine-2,4(1H,3H)-dione" "Stavudine" "blood serum thromboxane-A synthase amount" @@ -140379,11 +140371,11 @@ "Lactobacillus cerealis" "eyelid neurodegenerative disease" "neurodegenerative disease of eyelid" + "Waardenburg syndrome type 2 with ocular albinism" "blood serum death-associated protein 1 amount" "blood serum MARVEL domain-containing protein 2 amount" "intraocular medulloepithelioma" "orbital medulloepithelioma" - "Waardenburg syndrome type 2 with ocular albinism" "response to venlafaxine trait" "blood serum leucine-rich repeat-containing protein 75A amount" "cornea plana caused by mutation in KERA" @@ -140406,10 +140398,10 @@ "Endometrial Adenoacanthoma" "Adenocanthoma of Endometrium" "129/J" - "blood serum surfactant-associated protein 2 amount" "pancreatic mucinous cystadenoma" "mucinous cystadenoma of pancreas" "pancreas mucinous cystadenoma" + "blood serum surfactant-associated protein 2 amount" "Segmentation:5-9 somites" "Freire-Maia syndrome" "tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities" @@ -140867,12 +140859,12 @@ "bone biosynthesis" "Peroxisome biogenesis disorder complementation group B" "PBD-CG7" + "insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism" + "type A insulin resistance syndrome" "FCAS" "Familial cold autoinflammatory syndrome" "FCAS1" "FCU" - "insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism" - "type A insulin resistance syndrome" "PBC" "chronic non-suppurative destructive cholangitis" "cholestatic cirrhosis" @@ -141172,6 +141164,7 @@ "adenosquamous lung cancer" "adenosquamous lung carcinoma" "lung adenosquamous carcinoma" + "blood cholesterol ester 16:0 amount" "46,XY sex reversal type 1" "46,XY sex reversal 1" "46,XY true hermaphroditism, SRY-related" @@ -141179,7 +141172,6 @@ "46,XY gonadal dysgenesis, complete, SRY-related" "SRXY1" "46XY sex reversal 1, Y-linked" - "blood cholesterol ester 16:0 amount" "GM17850 cell" "PXA" "pleomorphic Xantho-astrocytoma" @@ -141373,12 +141365,12 @@ "Pierre Robin Sequence" "isolated Pierre-Robin syndrome" "isolated Pierre Robin sequence" - "blood serum Sphingomyelin (d40:2) amount" "end-stage renal disease" "End stage renal failure" "chronic renal failure" "End stage renal disease" "End-stage renal failure" + "blood serum Sphingomyelin (d40:2) amount" "blood serum uncharacterized protein C1orf226 (human) amount" "NYSTAGMUS 4, congenital, autosomal dominant" "NYS4" @@ -141647,9 +141639,9 @@ "acinic cell tumor of salivary gland" "salivary gland acinic cell tumor" "acinic cell carcinoma of the salivary gland" + "salivary gland acinic cell carcinoma" "salivary gland acinic cell cancer" "acinic cell carcinoma of salivary gland" - "salivary gland acinic cell carcinoma" "blood serum adenylate kinase 4, mitochondrial amount" "MCT" "T mast cells" @@ -141928,13 +141920,13 @@ "Alagille-Watson syndrome" "Arteriohepatic dysplasia" "Syndromic bile duct paucity" - "blood serum microtubule-associated protein RP/EB family member 2 amount" "GSD type 7" "Tarui disease" "Glycogen storage disease type 7" "GSD due to muscle phosphofructokinase deficiency" "Glycogenosis due to muscle phosphofructokinase deficiency" "Glycogenosis type 7" + "blood serum microtubule-associated protein RP/EB family member 2 amount" "ACTA1 nemaline myopathy" "actin myopathy" "nemaline myopathy 3, autosomal dominant or recessive" @@ -141958,8 +141950,8 @@ "gastrointestinal mixed Adenoneuroendocrine carcinoma" "digestive system mixed adenoneuroendocrine carcinoma" "gastrointestinal MANEC" - "MANEC" "MANEC" + "MANEC" "Fistula in ano" "chlorine acne" "GM14417 cell" @@ -142042,12 +142034,12 @@ "down-regulation of saliva secretion" "down regulation of saliva secretion" "downregulation of saliva secretion" + "blood serum collagen alpha-1(XIII) chain amount" "hypertensive emergency" "malignant hypertension" "malignant phase hypertension" "Hypertension, Malignant" "accelerated-malignant hypertension" - "blood serum collagen alpha-1(XIII) chain amount" "blood serum elongation factor 1-alpha 1 amount" "Emery-Dreifuss muscular dystrophy, autosomal recessive" "EDMD3" @@ -142086,8 +142078,6 @@ "sarcoma of testis" "testicular sarcoma" "Boyes Arabidopsis Growth Stage 1.1" - "Primary skeletal dysplasia with decreased bone density" - "Primary osteodysplasia with decreased bone density" "disease remission" "N-[(2E)-3-phenylprop-2-enoyl]glycine" "Chickenpox" @@ -142099,6 +142089,8 @@ "blood serum ubiquitin thioesterase otulin amount" "ulnar hypoplasia-lobster-claw deformity of feet syndrome" "Van den Berghe-Dequecker syndrome" + "Primary skeletal dysplasia with decreased bone density" + "Primary osteodysplasia with decreased bone density" "blood serum carboxypeptidase Q amount" "mullerian mixed tumor" "carcinosarcoma" @@ -142180,7 +142172,6 @@ "combined factor V and VIII deficiency" "LMAN1 combined deficiency of factor V and factor VIII" "factor 5 and Factor VIII, combined deficiency of, 1" - "IgM levels" "HAM syndrome" "APS type 1" "Autoimmune polyendocrine syndrome type 1" @@ -142197,6 +142188,7 @@ "autoimmune-poly-endocrinopathy-candidiasis-ectodermal-dystrophy syndrome" "Multiple endocrine deficiency - Addison's disease - candidiasis" "APECED syndrome" + "IgM levels" "Collapsed lung" "moniliform hair syndrome" "monilethrix" @@ -142266,6 +142258,7 @@ "European white birch" "Betula verrucosa" "Columbia-4" + "otitis media, susceptibility to" "cblJ defects" "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ" "cobalamin J defect" @@ -142274,7 +142267,6 @@ "autosomal dominant non-syndromic mental retardation" "autosomal dominant non-syndromic intellectual disability" "non-syndromic intellectual disability, autosomal dominant" - "otitis media, susceptibility to" "prepuce" "autism, susceptibility to, X-linked 3" "autism susceptibility, X-linked 3" @@ -142411,24 +142403,24 @@ "Gait Apraxia" "gait apraxia" "blood serum hydroxysteroid dehydrogenase-like protein 2 amount" - "nonmelanoma skin carcinoma" - "nonmelanoma skin cancer" - "non-melanoma skin cancer" "Idiopathic torsion dystonia of mixed type" "Generalized cervical and upper-limb-onset dystonia" "DYT6" + "nonmelanoma skin carcinoma" + "nonmelanoma skin cancer" + "non-melanoma skin cancer" "CAMS" "blood serum selenoprotein W amount" "delta1-pyrroline-5-carboxylate synthetase deficiency" "P5CS deficiency" - "AJ" - "A" "Spine Neck" "pedicle" "Neck (volume)" "adult neck" "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2" "SSFSC2" + "AJ" + "A" "TAR syndrome" "thrombocytopenia-absent radius syndrome" "radial aplasia-thrombocytopenia syndrome" @@ -142623,7 +142615,6 @@ "malunion of fracture" "fracture, malunion" "malunion of broken bone" - "CMT1F" "vaginal carcinosarcoma" "vaginal malignant mixed mesodermal (Müllerian) tumour" "vaginal malignant mixed mesodermal (Müllerian) tumor" @@ -142633,6 +142624,7 @@ "lymphoma of digestive system" "primary digestive system lymphoma" "blood serum laminin subunit alpha-3 amount" + "CMT1F" "DistanceUnit" "blood serum C1q-related factor amount" "familial lipoprotein lipase deficiency with type I phenotype" @@ -142937,8 +142929,8 @@ "aminoacetic acid" "GLYCINE" "nucleobase, nucleoside and nucleotide metabolism" - "blood serum thioredoxin-related transmembrane protein 1 amount" "parasitic eye infection" + "blood serum thioredoxin-related transmembrane protein 1 amount" "genetic renal tubular dysgenesis" "renal tubular dysgenesis of genetic origin" "JPT" @@ -143241,13 +143233,13 @@ "h" "pyrosequencing" "microcephaly, seizures, and developmental delay" + "CM" + "CSM" + "synthetic complete" "cystadenocarcinoma, malignant" "cystadenocarcinoma (morphologic abnormality)" "cystadenocarcinoma NOS (morphologic abnormality)" "cystadenocarcinoma" - "CM" - "CSM" - "synthetic complete" "primary aldosteronism, seizures, and neurologic abnormalities" "complex neurodevelopmental disorder with or without aldosteronism" "Conn adenoma with seizures and neurological abnormalities" @@ -143279,11 +143271,11 @@ "ectodermal dysplasia-skin fragility syndrome" "McGrath syndrome" "TAG 56:6" + "blood nucleolar protein 16 amount" "lymphoma of eyeball of camera-type eye" "eyeball of camera-type eye lymphoma" "eye lymphoma" "primary eye lymphoma" - "blood nucleolar protein 16 amount" "level of phosphatidylinositol 16:0_18:1 in blood serum" "blood serum phosphatidylinositol 16:0_18:1 amount" "Del(2)(q31.1)" @@ -143363,6 +143355,7 @@ "benign tumour of the colon" "colon benign neoplasm" "benign colonic tumour" + "blood serum kallikrein-15 amount" "intervertebral Disc degenerative disease" "intervertebral disc disease" "intervertebral disc degeneration" @@ -143381,7 +143374,6 @@ "IDD" "intervertebral disk disease" "intervertebral Disc Degeneration" - "blood serum kallikrein-15 amount" "Wieacker-Wolff syndrome" "Foot contractures - muscle atrophy - oculomotor apraxia" "placoda otica" @@ -143482,14 +143474,14 @@ "blue diaper syndrome" "familial hypercalcemia-nephrocalcinosis-indicanuria syndrome" "Drummond syndrome" - "Autosomal recessive posterior column ataxia and retinitis pigmentosa" - "PCARP" "leukodystrophy, hypomyelinating, type 9" "HLD9" "RARS-related autosomal recessive hypomyelinating leukodystrophy" "leukodystrophy caused by mutation in RARS" "RARS leukodystrophy" "hypomyelinating leukodystrophy type 9" + "Autosomal recessive posterior column ataxia and retinitis pigmentosa" + "PCARP" "Ureaplasma urealyticum biovar 1" "blood serum CGG triplet repeat-binding protein 1 amount" "blood serum heat shock factor 2-binding protein amount" @@ -143594,6 +143586,9 @@ "blood serum methionine-R-sulfoxide reductase B1 amount" "Bleeding below the skin" "Subcutaneous haemorrhage" + "CHO/IR" + "neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination" + "squamous cell carcinoma of liver and IBT" "Accelerated skeletal maturation - peculiar facies - failure to thrive" "HS" "hidradenitis suppurativa" @@ -143604,9 +143599,6 @@ "hidradenitis" "verneuil disease" "fox den disease" - "CHO/IR" - "neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination" - "squamous cell carcinoma of liver and IBT" "hereditary thrombotic thrombocytopenic purpura" "congenital ADAMTS13 deficiency" "Upshaw-Schulman syndrome" @@ -143813,8 +143805,8 @@ "Takotsubo Cardiomyopathy" "Tako-tsubo cardiomyopathy" "Broken heart syndrome" - "blood serum aminopeptidase B amount" "Sleep walking" + "blood serum aminopeptidase B amount" "ATP metabolism" "Hermansky-Pudlak syndrome type 2" "HPS2" @@ -143892,8 +143884,8 @@ "blood serum bone marrow proteoglycan amount" "IL10-related early-onset inflammatory bowel disease" "IL10-related early-onset IBD" - "3-(3-chloro-10,11-dihydro-5H-dibenzo[b,f]azepin-5-yl)-N,N-dimethylpropan-1-amine hydrochloride" "phosphatidylcholine O-42:0" + "3-(3-chloro-10,11-dihydro-5H-dibenzo[b,f]azepin-5-yl)-N,N-dimethylpropan-1-amine hydrochloride" "blood serum complement C1q-like protein 4 amount" "distal duplication 18q" "distal trisomy type 18q" @@ -144305,8 +144297,8 @@ "chronic myelomonocytic leukemia" "chronic myelomonocytic leukaemia (CMML)" "chronic myelomonocytic leukemia (CMML)" - "CMML" "CMML" + "CMML" "AML, Mutation of the Nucleophosmin Gene" "AML, NPM1 gene mutation" "acute myeloid leukemia, NPM1 gene mutation" @@ -144428,16 +144420,10 @@ "Severe Myoclonic Epilepsy, Infantile" "Myoclonic Epilepsy, Infantile, Benign" "Benign Infantile Myoclonic Epilepsy" - "cystic renal cell carcinoma" "Car2" "CAII" "CA-II" - "islet cell adenomatosis" - "rhabdomyosarcoma with mixed embryonal and alveolar features" - "mixed type alveolar rhabdomyosarcoma" - "mixed embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma" - "mixed type rhabdomyosarcoma" - "mixed alveolar rhabdomyosarcoma" + "cystic renal cell carcinoma" "acute generalised peritonitis" "acute generalized peritonitis" "peritoneum inflammation" @@ -144445,6 +144431,12 @@ "peritonitis" "primary bacterial peritonitis" "inflammation of peritoneum" + "islet cell adenomatosis" + "rhabdomyosarcoma with mixed embryonal and alveolar features" + "mixed type alveolar rhabdomyosarcoma" + "mixed embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma" + "mixed type rhabdomyosarcoma" + "mixed alveolar rhabdomyosarcoma" "blood serum coiled-coil domain-containing protein 149 amount" "blood serum trafficking protein particle complex subunit 5 amount" "Abnormality of female external genitalia" @@ -144547,8 +144539,8 @@ "Sodium arsenite" "Inability to walk by childhood/adolescence" "blood 5'(3')-deoxyribonucleotidase, cytosolic type amount" - "Bosma Arhinia Microphthalmia Syndrome" "GM17199 cell" + "Bosma Arhinia Microphthalmia Syndrome" "Connatal PMD" "Severe PMD" "Pelizaeus-Merzbacher disease type II" @@ -144720,11 +144712,11 @@ "benign exocrine pancreas tumour" "benign exocrine pancreas neoplasm" "benign tumor of the exocrine pancreas" - "(3S)-3-ammoniopropane-1,1,3-tricarboxylate" "Congenital tritanopia" "Blue colour blindness" "blue color blindness" "Tritan colour blindness" + "(3S)-3-ammoniopropane-1,1,3-tricarboxylate" "Terminal meromelia" "GM17845 cell" "Ladda-Zonana-Ramer syndrome" @@ -145219,6 +145211,9 @@ "Pseudomonas solanacearum" "Burkholderia solanacearum" "blood 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2 amount" + "Intracranial hypertension" + "Rise in pressure inside skull" + "Intracranial pressure elevation" "giant cell bone sarcoma" "giant cell tumor of bone, malignant (morphologic abnormality)" "malignant giant cell tumour of bone" @@ -145235,9 +145230,6 @@ "malignancy in giant cell tumor of bone" "Dedifferentiated giant cell tumour" "OSTEOCLASTOMA, malignant" - "Intracranial hypertension" - "Rise in pressure inside skull" - "Intracranial pressure elevation" "spinocerebellar degeneration-corneal dystrophy syndrome" "Der Kaloustian-Jarudi-Khoury syndrome" "corneal-cerebellar syndrome" @@ -145364,13 +145356,14 @@ "TimeUnit" "TimeUnitOther" "ductal carcinoma, cribriform type" - "leptomeninges" "Deinobacter" + "leptomeninges" "fallopian tube transitional cell cancer" "fallopian tube transitional cell carcinoma" "Tonsils" "Adenoids" "Mandel" + "type 1B" "hyperinsulinemic hypoglycemia due to insulin receptor deficiency" "hyperinsulinemic hypoglycemia, familial, type 5" "hyperinsulinemic hypoglycemia due to INSR deficiency" @@ -145391,7 +145384,6 @@ "Bone Loss, Postmenopausal" "Osteoporosis, Post Menopausal" "Bone Losses, Perimenopausal" - "type 1B" "blood endosialin amount" "infection by Legionella pneumophilia" "Legionella pneumonia (disorder)" @@ -145428,9 +145420,9 @@ "endocrine gland cancer" "neoplasm of endocrine system" "Endocrine tumor" + "cerebral sarcoidosis" "sarcoidosis of telencephalon" "telencephalon sarcoidosis" - "cerebral sarcoidosis" "blood serum ragulator complex protein LAMTOR2 amount" "AML, t(16;21)(p11.2;q22.2)" "AML, t(16;21)(p11;q22)" @@ -145468,6 +145460,7 @@ "Prefrontal association cortex" "blood serum isthmin-1 amount" "intracellular non-membrane-enclosed organelle" + "intracellular non-membrane-bounded organelle" "ANI" "JSRD" "blood serum Ras-related protein Rab-6B amount" @@ -145596,7 +145589,6 @@ "autosomal recessive congenital cataract 3" "cataract (disease) caused by mutation in FOXE3" "FOXE3 cataract (disease)" - "Donohue syndrome" "Periorbital melanosis" "Pigmentation around the eyes" "Infraorbital pigmentation" @@ -145619,6 +145611,7 @@ "syndromic X-linked intellectual disability type 34" "MRXSML" "intellectual developmental disorder, X-linked syndromic 34" + "Donohue syndrome" "mucoid carcinoma" "pseudomyxoma peritonei with unknown primary site" "mucin-secreting adenocarcinoma" @@ -145977,7 +145970,6 @@ "cholesteatoma (disease)" "cholesteatoma" "joint laxity, short stature, and myopia" - "Cervico-oculo-acoustic syndrome" "antimetabolite" "blood serum kallikrein-9 amount" "bacillus Calmette-Guerin BCG" @@ -145985,6 +145977,7 @@ "BCG" "bacillus Calmette-Guerin" "blood serum ELKS/Rab6-interacting/CAST family member 1 amount" + "Cervico-oculo-acoustic syndrome" "Sex-chromosome anomaly" "endocardial heart tube" "embryonic heart tube" @@ -146160,9 +146153,9 @@ "Unspecified malaria (disorder)" "Marsh Fever" "Fever, Remittent" + "induced malaria" "Paludism" "Malaria (disorder)" - "induced malaria" "INFECT PLASMODIUM" "Malaria, NOS" "Other pernicious complications of malaria" @@ -146460,8 +146453,8 @@ "Abnormally small skull" "Steatitis" "frontal lobe cortex" - "cortex of frontal lobe" "gray matter of frontal lobe" + "cortex of frontal lobe" "grey matter of frontal lobe" "blood serum monocarboxylate transporter 4 amount" "IMAGE-I syndrome" @@ -146637,6 +146630,7 @@ "hoja juvenil (Spanish, exact)" "維管束系幼葉 (Japanese, exact)" "juvenile leaf" + "blood serum n-(15z-tetracosenoyl)-1-deoxysphing-4-enine amount" "prostate transitional cell carcinoma" "primary prostate urothelial cancer" "transitional cell carcinoma of prostate" @@ -146648,7 +146642,6 @@ "Nervus Trigeminus" "trigeminus" "Fifth Cranial Nerve" - "blood serum n-(15z-tetracosenoyl)-1-deoxysphing-4-enine amount" "blood serum aminopeptidase NAALADL1 amount" "Sulfolobus fataricus" "Aspergillus nidulans" @@ -146743,13 +146736,13 @@ "spirochetal jaundice" "Fort Bragg fever" "Leptospira caused disease or disorder" - "SCAR13" - "Autosomal recessive spinocerebellar ataxia type 13" - "Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency" "blood serum TRAF family member-associated NF-kappa-B activator amount" "meso-erythritol" "erythritol" "Erythritol" + "SCAR13" + "Autosomal recessive spinocerebellar ataxia type 13" + "Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency" "extra-adrenal chromaffin neoplasm" "Extra-Adrenal Sympathetic Paraganglionic Neoplasm" "extra-adrenal Chromaffinoma" @@ -146767,12 +146760,12 @@ "AR-CMT2" "Gardner syndrome" "Gardner's syndrome" + "GM17814 cell" "CDG-Io" "CDG1O" "Carbohydrate deficient glycoprotein syndrome type Io" "CDG syndrome type Io" "Congenital disorder of glycosylation type Io" - "GM17814 cell" "glycogen" "CRB2 focal segmental glomerulosclerosis" "focal segmental glomerulosclerosis type 9" @@ -146874,8 +146867,8 @@ "blood CD276 molecule amount" "transitional cell carcinoma of urethra" "urethral transitional cell carcinoma" - "urethral urothelial carcinoma" "urethra transitional cell carcinoma" + "urethral urothelial carcinoma" "urethral urothelial cancer" "transitional cell carcinoma of the urethra" "Brain inflammation" @@ -146926,8 +146919,8 @@ "USP9X X-linked syndromic intellectual disability" "mental retardation, X-linked 99, syndromic, female-restricted" "intellectual disability, X-linked 99, syndromic, female-restricted" - "MDS" "MDS" + "MDS" "myelodysplastic neoplasm" "MDS, unclassifiable" "myelodysplastic syndrome, somatic" @@ -147223,6 +147216,13 @@ "cobalamin metabolism" "vitamin B12 metabolic process" "vitamin B12 metabolism" + "Chlamydia caused disease or disorder" + "Chlamydia disease or disorder" + "Chlamydophila disease or disorder" + "Chlamydia infectious disease" + "Chlamydophila caused disease or disorder" + "chlamydia infectious disease" + "Chlamydophila Infections" "pancytopenia, congenital" "primary erythroid hypoplasia" "Fanconi's anemia" @@ -147231,13 +147231,6 @@ "Fanconi panmyelopathy" "Fanconi pancytopenia" "Panmyelopathy, Fanconi" - "Chlamydia caused disease or disorder" - "Chlamydia disease or disorder" - "Chlamydophila disease or disorder" - "Chlamydia infectious disease" - "Chlamydophila caused disease or disorder" - "chlamydia infectious disease" - "Chlamydophila Infections" "inborn disorder of cobalamin metabolism and transport" "inborn vitamin B12 deficiency (disease)" "rare inborn error of cobalamin metabolic process" @@ -147305,21 +147298,21 @@ "intestine epithelial tissue" "bowel epithelial tissue" "ultraviolet keratitis" - "Ocular hypertension" - "Ocular Hypertension" - "Ocular hypertension (disorder)" - "ocular hypertension" "WC00060" "mixed sclerosing bone dystrophy" "MSBD syndrome" "NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME" "NEDJED" "neurodevelopmental, jaw, eye, and digital syndrome" + "Ocular hypertension" + "Ocular Hypertension" + "Ocular hypertension (disorder)" + "ocular hypertension" "UPD(X)" "uniparental disomy of chromosome type X" + "gastric fundus" "stomach fundus" "fundus gastricus (ventricularis)" - "gastric fundus" "uveal coloboma-cleft lip and palate-intellectual disability" "FCS syndrome" "Faciocutaneoskeletal syndrome" @@ -147647,8 +147640,8 @@ "lymphocytopenia" "lymphopenia (disease)" "lymphopenia" - "AxD" "CD16+ monocyte" + "AxD" "blood phosphoethanolamine/phosphocholine phosphatase amount" "blood serum zinc finger protein 774 amount" "cancer of uterine ligament" @@ -147782,13 +147775,13 @@ "Lycopersicum esculentum" "polymorphic light eruption" "polymorphous light eruption" + "Oculopharyngeal distal myopathy" + "OPDM" "congenital pulmonary alveolar proteinosis" "congenital PAP" "inborn error of pulmonary surfactant metabolism" "inborn error of surfactant metabolism" "hereditary pulmonary alveolar proteinosis" - "Oculopharyngeal distal myopathy" - "OPDM" "rheumatic disease" "rheumatism" "rheumatic disorder" @@ -147825,10 +147818,10 @@ "blood visinin-like protein 1 amount" "neonatal hyperbilirubinemia" "neonatal icterus" - "X-linked auditory neuropathy with peripheral sensory neuropathy type 1" - "X-linked HSAN with deafness" "Robinow-Unger syndrome" "Hyperostosis generalisata with striations" + "X-linked auditory neuropathy with peripheral sensory neuropathy type 1" + "X-linked HSAN with deafness" "constipation" "vaginal disease" "vagina disease or disorder" @@ -147991,13 +147984,12 @@ "blood serum vacuolar protein sorting-associated protein 26B amount" "Thompson-Baraitser syndrome" "Thompson Baraitser syndrome" - "ADA2 deficiency" "basal nuclei (basal ganglia)" "basal ganglia set" "set of basal ganglia" "basal ganglia" + "ADA2 deficiency" "blood protein disulfide isomerase CRELD1 amount" - "Blepharophimosis types 1 and 2 due to polyA expansion" "oxyntic cell" "Klatskin's tumor" "hilar CC" @@ -148009,6 +148001,7 @@ "Klatskin tumour" "hilar CCA" "perihilar extrahepatic bile duct carcinoma" + "Blepharophimosis types 1 and 2 due to polyA expansion" "partial deletion of chromosome type 19" "partial monosomy of chromosome 19" "Actinobacillus pleuropneumoniae serotype 7" @@ -149012,11 +149005,11 @@ "IBM3" "Hereditary inclusion body myopathy type 3" "HIBM3" - "NVP severity measurement" - "Morning sickness severity measurement" "Achlamydospora indica" "Achlamydospora indicum" "fungal endophyte pNS1-2" + "NVP severity measurement" + "Morning sickness severity measurement" "embryonic dorsal organ" "recombinase activating gene 1 deficiency" "blood serum growth arrest-specific protein 7 amount" @@ -149149,8 +149142,8 @@ "Choroiditides" "trichlorofluoromethane" "trichloro(fluoro)methane" - "Oxalic acid" "OXALIC ACID" + "Oxalic acid" "oxalic acid" "Dibutyl phthalate" "dibutyl benzene-1,2-dicarboxylate" @@ -149161,6 +149154,7 @@ "blood serum beta-defensin 121 amount" "blood serum BPI fold-containing family B member 1 amount" "inflammatory spondylopathies in disease EC" + "blood serum ret finger protein-like 3 amount" "CPLS syndrome" "cleft palate-lateral synechia syndrome" "WASHC5 hereditary spastic paraplegia" @@ -149171,7 +149165,6 @@ "hereditary spastic paraplegia caused by mutation in WASHC5" "Mesangiocapillary glomerulonephritis" "MPGN" - "blood serum ret finger protein-like 3 amount" "AG11696 cell" "disease or disorder of vein" "disease of vein" @@ -149441,10 +149434,10 @@ "Pioglitazone" "5-{4-[2-(5-ethylpyridin-2-yl)ethoxy]benzyl}-1,3-thiazolidine-2,4-dione" "Santos-Mateus-Leal syndrome" + "sTREM2 measurement" "blood serum delta-like protein 3 amount" "golden-mantled ground squirrel" "blood serum Phosphatidylcholine (16:0_18:3) amount" - "sTREM2 measurement" "COG2-related congenital disorder of glycosylation" "COG2-CDG" "blood serum synaptotagmin-like protein 1 amount" @@ -149477,10 +149470,10 @@ "AML, CCAAT/Enhancer Binding Protein Alpha Biallelic Gene Mutation" "Silicibacter pomeroyi" "solitary myofibroma" + "SPG71" "Ureterocele" "ureterocele (disease)" "ureterocele" - "SPG71" "idiopathic aplastic aplasia" "idiopathic bone marrow failure" "(2R)-2-[(7Z,10Z,13Z,16Z)-docosa-7,10,13,16-tetraenoyloxy]-3-(hexadecanoyloxy)propyl 2-(trimethylammonio)ethyl phosphate" @@ -149534,21 +149527,6 @@ "blood serum secretory phospholipase A2 receptor amount" "junctional ectopic tachycardia" "JET" - "functioning pituitary gland adenoma (benign)" - "functioning adenoma of pituitary gland" - "secretory pituitary adenoma" - "secreting pituitary adenoma" - "functioning adenoma of pituitary" - "secretory adenoma of the pituitary gland" - "functioning pituitary gland adenoma" - "endocrine active pituitary adenoma" - "secretory adenoma of the pituitary" - "secretory adenoma of pituitary gland" - "functioning pituitary adenoma" - "functioning adenoma of the pituitary" - "secretory adenoma of pituitary" - "functioning adenoma of the pituitary gland" - "secretory pituitary gland adenoma" "grade IV brain astrocytic tumor" "grade IV astrocytic neoplasm of brain" "brain glioblastoma" @@ -149565,6 +149543,21 @@ "grade IV brain astrocytic tumour" "grade IV brain astrocytic neoplasm" "glioblastoma multiforme of brain" + "functioning pituitary gland adenoma (benign)" + "functioning adenoma of pituitary gland" + "secretory pituitary adenoma" + "secreting pituitary adenoma" + "functioning adenoma of pituitary" + "secretory adenoma of the pituitary gland" + "functioning pituitary gland adenoma" + "endocrine active pituitary adenoma" + "secretory adenoma of the pituitary" + "secretory adenoma of pituitary gland" + "functioning pituitary adenoma" + "functioning adenoma of the pituitary" + "secretory adenoma of pituitary" + "functioning adenoma of the pituitary gland" + "secretory pituitary gland adenoma" "skin inflammation" "inflammatory skin disease" "inflammation of zone of skin" @@ -149688,8 +149681,8 @@ "TLS" "pleomorphic liposarcoma" "pleomorphic liposarcoma (morphologic abnormality)" - "PLS" "PLS" + "PLS" "Streptococcus diacetilactis" "Streptococcus lactis subsp. lactis" "Lactococcus lactis (SUBSP. LACTIS)" @@ -149840,8 +149833,8 @@ "leiomyomatosis, no ICD-O subtype" "SEG" "blood serum sorting nexin-11 amount" - "blood glutamine amidotransferase-like class 1 domain-containing protein 3, mitochondrial amount" "seminal plasma" + "blood glutamine amidotransferase-like class 1 domain-containing protein 3, mitochondrial amount" "Self-injurious behavior" "Autoagression" "Self-harm" @@ -149858,13 +149851,13 @@ "splenic lymphoma with circulating villous lymphocytes" "marginal zone lymphoma of spleen" "splenic marginal zone lymphoma with villous lymphocytes" - "SLVL" "SLVL" + "SLVL" "splenic marginal zone B-cell lymphoma with villous lymphocytes" "marginal zone lymphoma of the spleen" "splenic marginal zone B-cell lymphoma" - "SMZL" "SMZL" + "SMZL" "B3GALT6 spondyloepimetaphyseal dysplasia with joint laxity" "SEMDJL1" "spondyloepimetaphyseal dysplasia with joint laxity, Beighton type" @@ -150069,8 +150062,8 @@ "2,3-dihydroxypropyl (9Z)-octadec-9-enoate" "1-oleoylglycerol" "Non-cerebral juvenile Gaucher disease" - "GM17776 cell" "Primary blepharospasm" + "GM17776 cell" "Crohn's ileitis" "kuru, susceptibility to" "combined 17-hydroxylase/17,20-lyase deficiency" @@ -150401,9 +150394,9 @@ "amyloidosis, MERETOJA type" "familial amyloidosis, Finnish type" "familial amyloid polyneuropathy type IV" - "GAMOS10" "typical endometrial hyperplasia" "endometrial hyperplasia without atypia" + "GAMOS10" "GM17262 cell" "peripheral demyelinating neuropathy" "Mesangiocapillary glomerulonephritis type 2" @@ -150458,10 +150451,10 @@ "Abnormal circulating LDH concentration" "Abnormal LDH level" "delay discounting measurement" - "Cerebroretinal microangiopathy with calcifications and cysts" - "CRMCC" "endometrioid neoplasm" "endometrioid tumor (morphologic abnormality)" + "Cerebroretinal microangiopathy with calcifications and cysts" + "CRMCC" "partial trisomy of chromosome 16p" "partial duplication of chromosome 16p" "partial duplication of the short arm of chromosome type 16" @@ -150487,8 +150480,6 @@ "pediatric teratoma of the ovary" "pediatric teratoma of ovary" "blood serum mitochondrial glycine transporter amount" - "decidual NK cell" - "dNK cell" "squamous cell carcinoma of trachea" "epidermoid carcinoma of trachea" "tracheal epidermoid carcinoma" @@ -150497,6 +150488,8 @@ "epidermoid carcinoma of the trachea" "squamous cell carcinoma of the trachea" "trachea epidermoid carcinoma" + "decidual NK cell" + "dNK cell" "lipoate biosynthesis defect" "inborn error of lipoate biosynthetic process" "rare inborn error of lipoate biosynthetic process" @@ -150640,7 +150633,6 @@ "TAG 46:1" "alloimmunisation" "Mokola lyssavirus" - "Rajab-Spranger syndrome" "malignant tumour of the accessory sinus" "malignant neoplasm of accessory sinus" "malignant accessory sinus neoplasm" @@ -150659,6 +150651,7 @@ "malignant tumor of the accessory sinus" "malignant tumor of the paranasal sinus" "malignant tumour of the paranasal sinus" + "Rajab-Spranger syndrome" "Joubert syndrome type 5" "CEP290 Joubert syndrome" "Joubert syndrome 5" @@ -150708,8 +150701,8 @@ "Porphyromonas gingivalis str. ATCC 33277" "6-chloro-1-(4-hydroxyphenyl)-2,3,4,5-tetrahydro-1H-3-benzazepine-7,8-diol" "eye(s), dry" - "KCS" "Dry Eye Syndrome" + "KCS" "tear film insufficiency" "Tear film insufficiency" "sicca, keratoconjunctivitis" @@ -151377,8 +151370,8 @@ "acquired Gronblad-Strandberg-Touraine syndrome" "acquired pseudoxanthoma elasticum (inherited or acquired)" "blood serum 3',5'-cyclic-AMP phosphodiesterase 4A amount" - "naphthalen-1-ylacetic acid" "1-naphthaleneacetic acid" + "naphthalen-1-ylacetic acid" "endometriosis of fallopian tube" "fallopian tube endometriosis (disease)" "fallopian tube endometriosis" @@ -151581,6 +151574,11 @@ "carcinoma of rectum" "carcinoma of the rectum" "rectum carcinoma" + "plantar lipomatosis-unusual facies-developmental delay syndrome" + "plantar lipomatosis-facial dysmorphism-developmental delay syndrome" + "Pierpont syndrome" + "alanine transaminase measurement" + "alanine aminotransferase measurement" "West Nile virus caused infectious encephalitis" "West Nile virus infectious encephalitis" "West Nile fever encephalitis" @@ -151591,11 +151589,6 @@ "West Nile fever with encephalitis" "West Nile Fever with encephalitis" "West-Nile encephalitis" - "plantar lipomatosis-unusual facies-developmental delay syndrome" - "plantar lipomatosis-facial dysmorphism-developmental delay syndrome" - "Pierpont syndrome" - "alanine transaminase measurement" - "alanine aminotransferase measurement" "brain meningioma (disease)" "brain meningioma" "meningioma (disease) of brain" @@ -151690,13 +151683,13 @@ "N-methylmalonamic acid" "Connective tissue disorder due to LH3 deficiency" "Bone fragility-contractures-arterial rupture-deafness syndrome" + "Chitayat syndrome" + "CHYTS" + "Chitayat syndrome; CHYTS" "UP/MPCM" "urticaria pigmentosa/maculopapular cutaneous mastocytosis" "maculopapular cutaneous mastocytosis" "urticaria pigmentosa" - "Chitayat syndrome" - "CHYTS" - "Chitayat syndrome; CHYTS" "transitional cell carcinoma" "urothelial cell carcinoma" "carcinoma of transitional epithelial cell" @@ -151834,9 +151827,9 @@ "HPT-JT" "hyperparathyroidism-2" "blood serum heterogeneous nuclear ribonucleoprotein F amount" - "blood serum integrin alpha-V amount" "blood serum ubiquitin-like modifier-activating enzyme 6 amount" "Leber congenital amaurosis with early-onset deafness" + "blood serum integrin alpha-V amount" "blood serum ataxin-10 amount" "Joubert syndrome 1" "JBTS1" @@ -151878,12 +151871,6 @@ "dermis disease" "disorder of dermis" "dermis disease or disorder" - "polyp of the ethmoidal sinus" - "polyp of the ethmoid sinus" - "ethmoid sinus polyp" - "polyp of ethmoid sinus" - "ethmoidal polyp" - "ethmoidal sinus polyp" "X-linked central congenital hypothyroidism with late-onset macroorchidism" "IGSF1 deficiency syndrome" "central hypothyroidism and testicular enlargement" @@ -151894,6 +151881,12 @@ "Immunoglobulin superfamily member 1 deficiency syndrome" "Streptococcus thermophilus strain CNRZ1066" "Streptococcus thermophilus str. CNRZ1066" + "polyp of the ethmoidal sinus" + "polyp of the ethmoid sinus" + "ethmoid sinus polyp" + "polyp of ethmoid sinus" + "ethmoidal polyp" + "ethmoidal sinus polyp" "domestic horse" "Equus ferus caballus" "Equus przewalskii forma caballus" @@ -151907,9 +151900,6 @@ "blood serum carcinoembryonic antigen-related cell adhesion molecule 3 amount" "bis[2-hydroxypropane-1,2,3-tricarboxylato(3-)-kappa(3)O(1),O(2),O(3)]ferrate(3-)" "blood complement component C8 beta chain amount" - "inherited cardiac tumor" - "hereditary heart neoplasm" - "genetic heart tumor" "blood serum dual specificity protein phosphatase 15 amount" "Toxoplasmosis - congen." "mother-to-child transmission of toxoplasmosis" @@ -151937,6 +151927,9 @@ "progressive myoclonic epilepsy type 2" "myoclonic epilepsy of Lafora" "epilepsy, progressive myoclonic 2A (Lafora)" + "inherited cardiac tumor" + "hereditary heart neoplasm" + "genetic heart tumor" "Raised intracranial pressure" "raised intracranial pressure" "Intracranial Hypertension" @@ -151974,15 +151967,15 @@ "benign duodenal tumor" "benign tumor of the duodenum" "benign duodenal tumour" - "Ahn-Lerman-Sagie syndrome" "osteopetrosis (disease) caused by mutation in LRP5" "osteopetrosis, autosomal dominant type 1" "LRP5 osteopetrosis (disease)" "autosomal dominant osteopetrosis type 1" "OPTA1" + "Ahn-Lerman-Sagie syndrome" "blood serum cAMP-dependent protein kinase type II-beta regulatory subunit amount" - "Achondrogenesis, Langer-Saldino type" "bile duct squamous cell carcinoma" + "Achondrogenesis, Langer-Saldino type" "disintegrin and metalloproteinase with thrombospondin motifs 13 activity measurement" "DNA_sequencer" "Fitzsimmons-McLachlan-Gilbert syndrome" @@ -152432,8 +152425,8 @@ "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2" "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in SLC25A4" "subcutaneous panniculitis-like T-cell lymphoma (Alpha/Beta type)" - "SPTCL" "SPTCL" + "SPTCL" "subcutaneous panniculitis-like T-cell lymphoma, Alpha/Beta type" "subcutaneous panniculitis-like T-cell lymphoma" "subcutaneous panniculitic T-cell lymphoma" @@ -152623,6 +152616,7 @@ "Juvenile rheumatoid arthritis" "Juvenile chronic arthritis" "blood serum lysosomal acid glucosylceramidase amount" + "Vgamma2-negative" "non-toxic simple goitre" "euthyroid goiter" "euthyroid goitre" @@ -152632,9 +152626,8 @@ "nontoxic goiter" "Nodule-thyroid, non tox" "non-toxic goitre" - "Vgamma2-negative" - "blood serum outer dynein arm-docking complex subunit 4 amount" "3-(1H-indol-3-yl)propanoic acid" + "blood serum outer dynein arm-docking complex subunit 4 amount" "Pericytic tumour" "perivascular neoplasm" "perivascular tumour" @@ -152770,8 +152763,8 @@ "volume percentage" "% (v/v)" "BG02" - "mammalian vulva Paget disease" "vulvar Paget's disease" + "mammalian vulva Paget disease" "Paget disease of the vulva" "vulval Paget disease" "Paget's disease of vulva" @@ -152911,12 +152904,12 @@ "Van den Berghe-Dequecker syndrome" "Ulnar hypoplasia - lobster-claw deformity of feet" "HTRA1-related cerebral angiopathy" + "Deafness - nephritis - ano-rectal malformation" "epiphyseal dysplasia-microcephaly-nystagmus syndrome" "Lowry Wood syndrome" "LWS" "Lowry-Wood syndrome" "epiphyseal dysplasia, multiple, with microcephaly and retinal dystrophy" - "Deafness - nephritis - ano-rectal malformation" "PGLC 33H(T5-1)" "T51 LCL" "T5-1 (3.1.0)" @@ -153001,10 +152994,10 @@ "neurodegeneration with brain iron accumulation 5" "neurodegeneration with brain iron accumulation type 5" "beta-propeller protein-associated neurodegeneration" + "blood serum disintegrin and metalloproteinase domain-containing protein 7 amount" "Epidermolysis bullosa dystrophica" "DEB" "Dermolytic epidermolysis bullosa" - "blood serum disintegrin and metalloproteinase domain-containing protein 7 amount" "pharyngeal system development disease" "disease of pharyngeal system development" "disorder of pharyngeal system development" @@ -153080,9 +153073,9 @@ "benign conjunctival neoplasm" "benign tumor of the conjunctiva" "benign tumour of the conjunctiva" + "SGS" "Stapedo-vestibular ankylosis" "Thies-Reis syndrome" - "SGS" "array_scanner" "blood 2,4-dienoyl-CoA reductase [(3E)-enoyl-CoA-producing], mitochondrial amount" "Chudley-Lowry syndrome" @@ -153672,8 +153665,6 @@ "Papillary breast cancer" "papillary carcinoma of the breast" "RMSSD" - "Inverted 8p duplication/deletion syndrome" - "Invdupdel(8p)" "early infantile epileptic encephalopathy caused by mutation in STXBP1" "epileptic encephalopathy, early infantile, 4" "EIEE4" @@ -153685,6 +153676,8 @@ "epileptic encephalopathy, early infantile, type 4" "developmental and epileptic encephalopathy 4" "Poikiloderma - alopecia - retrognathism - cleft palate" + "Inverted 8p duplication/deletion syndrome" + "Invdupdel(8p)" "blood huntingtin-interacting protein 1 amount" "trisomy 1 mosaicism" "Mosaic trisomy chromosome 1" @@ -153777,6 +153770,7 @@ "acute gonococcal prostatitis" "gonococcal prostatitis, acute" "blood serum zinc finger protein 415 amount" + "blood serum retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta amount" "hepatoid yolk sac tumor" "endodermal sinus tumour" "yolk Sac neoplasm" @@ -153789,7 +153783,6 @@ "yolk Sac tumour" "yolk Sac tumor" "hepatoid yolk sac tumour" - "blood serum retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta amount" "spinach" "Spinacia oleracea0" "Spinacia oleracea L" @@ -153946,6 +153939,7 @@ "cucumbers" "cucumber" "lamina propria mucosa of small intestine" + "small bowel lamina propria mucosa" "small bowel lamina propria" "lamina propria of small bowel" "small intestine lamina propria" @@ -153956,7 +153950,6 @@ "lamina propria mucosae of small bowel" "lamina propria of mucosa of small intestine" "lamina propria mucosae of small intestine" - "small bowel lamina propria mucosa" "Epilepsy, Reflex" "reflex epilepsy" "epilepsy, sensory-induced" @@ -154235,9 +154228,9 @@ "CDPD" "Harboyan syndrome" "Corneal dystrophy with progressive deafness" + "Secretory diarrhoea" "sodium pentacyanidonitrosylferrate(III)" "sodium pentacyanidonitrosylferrate(2-)" - "Secretory diarrhoea" "hereditary cerebellar ataxia" "cerebellar hereditary ataxia" "(2S)-2-acetamidopentanedioate" @@ -154352,9 +154345,6 @@ "gracile bone dysplasia" "osteocraniostenosis" "blood serine protease inhibitor Kazal-type 5 amount" - "Childhood ataxia with diffuse central nervous system hypomyelination" - "Myelinosis centralis diffusa" - "Leukoencephalopathy with vanishing white matter" "hunting reaction" "CIVD" "(Campylobacter GIT infection (& [diarrhea] or [enteritis]) or (helicobacter gastritis)" @@ -154363,6 +154353,9 @@ "Campylobacteriosis (disorder)" "Helicobacter pylori strain J99" "Helicobacter pylori str. J99" + "Childhood ataxia with diffuse central nervous system hypomyelination" + "Myelinosis centralis diffusa" + "Leukoencephalopathy with vanishing white matter" "blood ataxin-3 amount" "Bradyrhizobium japonicum str. USDA 110" "rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction" @@ -154381,15 +154374,15 @@ "Dermacentroxenus rickettsii" "Rickettsia rickettsii (Wolbach 1919) Brumpt 1922" "blood serum coiled-coil domain-containing protein 25 amount" + "distal straight tubule" "tubulus rectus distalis" "loop of Henle ascending limb thick segment" - "straight portion of distal convoluted renal tubule" "thick ascending limb of distal tubule" + "straight portion of distal convoluted renal tubule" "straight portion of distal convoluted tubule" "ascending thick limb" "thick ascending limb" "thick ascending limb of Henle's loop" - "distal straight tubule" "arthrogryposis, distal, type 1C" "DA1C" "diarrhoea type 6" @@ -154526,11 +154519,11 @@ "vaginal Mullerian adenosarcoma" "vaginal Müllerian adenosarcoma" "TAG 48:1" - "Boyes Arabidopsis Growth Stage 1.06" - "BBCH growth stage 16" "Coronavinae infectious disease" "Coronavirus Infections" "coronavirus disease" + "Boyes Arabidopsis Growth Stage 1.06" + "BBCH growth stage 16" "blood serum Phosphatidylcholine (O-16:1_20:4) amount" "Segmentation:26+ somites" "blood serum xyloside xylosyltransferase 1 amount" @@ -154766,8 +154759,8 @@ "mycosis fungoides (morphologic abnormality)" "mycosis fungoides, Alibert-Bazin type" "mycosis fungoides of unspecified site" - "MF" "MF" + "MF" "mycosis fungoides NOS (morphologic abnormality)" "cutaneous T-cell lymphoma/mycosis fungoides" "mycosis fungoides, unspecified site, extranodal and solid organ sites" @@ -154806,8 +154799,8 @@ "hepatoblastoma" "paediatric hepatoblastoma" "pediatric hepatoblastoma" - "HBL" "HBL" + "HBL" "blood serum 14 kDa phosphohistidine phosphatase amount" "defect in COG complex" "blood serum metaxin-2 amount" @@ -154852,11 +154845,11 @@ "COXPD25" "(2S,3R,4S)-4-[(2S,5R,7S,8R,9S)-2-{(2S,2'R,3'S,5R,5'R)-2-ethyl-5'-[(2S,3S,5R,6R)-6-hydroxy-6-(hydroxymethyl)-3,5-dimethyltetrahydro-2H-pyran-2-yl]-3'-methyloctahydro-2,2'-bifuran-5-yl}-9-hydroxy-2,8-dimethyl-1,6-dioxaspiro[4.5]dec-7-yl]-3-methoxy-2-methylpentanoic acid" "Monensin A" - "(2S)-2-amino-4-(hydroxyphosphinyl)butanoic acid" "Orofaciodigital syndrome, Edwards type" "Oral-facial-digital syndrome type 8" "OFD8" "Oral-facial-digital syndrome, Edwards type" + "(2S)-2-amino-4-(hydroxyphosphinyl)butanoic acid" "acromesomelic dysplasia 2B" "fibular hypoplasia and complex brachydactyly" "Du Pan syndrome" @@ -155327,10 +155320,10 @@ "blood serum DNA mismatch repair protein Msh2 amount" "blood serum DDRGK domain-containing protein 1 amount" "immunoproliferative disorder" - "inflammation of colon" "colon inflammation" - "colitis (disease)" + "inflammation of colon" "Colitides" + "colitis (disease)" "colitis" "N-(1-naphthyl)ethane-1,2-diaminium dichloride" "Familial platelet syndrome" @@ -155587,12 +155580,12 @@ "medullary plasmacytoma" "multiple myeloma/plasma cell myeloma" "Kahler's disease" - "Pseudoaldosteronism" - "Pseudohyperaldosteronism type 1" "Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy" "Hereditary multi-infarct dementia" "undifferentiated gonad" "gonadal primordium" + "Pseudoaldosteronism" + "Pseudohyperaldosteronism type 1" "Alazami syndrome" "fully-elongated embryo" "Abnormality of the GI tract" @@ -155612,8 +155605,6 @@ "tubulus contortus distalis" "distal convoluted renal tubule" "Tarlov cyst" - "Del(9)(q31.1q31.3)" - "monosomy 9q31.1q31.3" "undifferentiated gallbladder carcinoma" "anaplastic gallbladder carcinoma" "undifferentiated carcinoma of the gallbladder" @@ -155623,17 +155614,19 @@ "gall bladder undifferentiated carcinoma" "undifferentiated carcinoma of gallbladder" "anaplastic carcinoma of the gallbladder" + "Del(9)(q31.1q31.3)" + "monosomy 9q31.1q31.3" "aortic arch 4" "fourth branchial arch artery" "4th arch artery" "fourth aortic arch" "AA4" - "Teebi-Kaurah syndrome" "Del(14)(q11.2)" "chromosome 14q11-q22 deletion syndrome, isolated cases" "monosomy 14q11.2" "14q11.2 microdeletion syndrome" "chromosome 14q11-q22 deletion syndrome" + "Teebi-Kaurah syndrome" "Albright hereditary osteodystrophy-like syndrome" "monosomy 2q37-qter" "brachydactyly intellectual disability syndrome" @@ -156815,8 +156808,8 @@ "Vascular Hemophilias" "von Willebrands Diseases" "Tibial pseudoarthrosis" - "hydrocele testis" "blood serum NEDD8 protein amount" + "hydrocele testis" "Del(14)(q24.1q24.3)" "monosomy 14q24.1q24.3" "undifferentiated ovarian carcinoma" @@ -156834,6 +156827,7 @@ "AA5" "neurogenic bowel" "Neurogenic Bowel" + "Muscle fibre actin filament accumulation" "autosomal dominant mental retardation 23" "intellectual disability, autosomal dominant type 23" "intellectual developmental disorder, autosomal dominant 23" @@ -156841,7 +156835,7 @@ "autosomal dominant intellectual disability 23" "intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency" "mental retardation, autosomal dominant type 23" - "Muscle fibre actin filament accumulation" + "blood RNA-binding protein with multiple splicing amount" "chromosome 16p13.3 duplication syndrome" "16p13.3 microduplication syndrome" "dup(16)(p13.3)" @@ -156851,7 +156845,6 @@ "distal duplication 16p" "chromosome 16p13.3 duplication syndrome, isolated cases" "(15Z)-12,18-dihydroxy-13,19-didehydrosenecionan-11,16-dione" - "blood RNA-binding protein with multiple splicing amount" "hairy throat syndrome" "Tsukahara-Kajii syndrome" "hereditary sensory and autonomic neuropathy type IB" @@ -157199,15 +157192,14 @@ "laryngeal throat verrucous cancer" "laryngeal verrucous carcinoma" "larynx verrucous carcinoma" - "Ankle Brachial Pressure Index (ABPI)" "Index, Toe-Brachial" "Brachial Indices, Ankle" "Index, Ankle-Brachial" "Index, Toe Brachial" "Ankle-Brachial Index" "Ankle-Brachial Indices" - "Toe Brachial Indices" "Indices, Toe-Brachial" + "Toe Brachial Indices" "ABPI" "Brachial Index, Ankle" "Index, Ankle Brachial" @@ -157215,23 +157207,24 @@ "Indices, Toe Brachial" "Ankle Brachial Indices" "Toe-Brachial Index" - "Brachial Indices, Toe" "ankle brachial pressure index" + "Brachial Indices, Toe" "Toe-Brachial Indices" - "Brachial Index, Toe" "Toe Brachial Index" + "Brachial Index, Toe" "Indices, Ankle-Brachial" + "Ankle Brachial Pressure Index (ABPI)" "blood serum CUE domain-containing protein 1 amount" "Spastic quadriplegia" "hyperprostaglandin E syndrome" "Bartter syndrome, furosemide type" "Bartter syndrome, furosemide-amiloride type" + "X-linked intellectual disability - seizures - short stature - midface hypoplasia" + "CRTR-D" "Secondary olfactory cortex" "Entorhinal area" "Secondary olfactory cortical area (Carpenter)" "Area 28 of Brodmann (Crosby)" - "X-linked intellectual disability - seizures - short stature - midface hypoplasia" - "CRTR-D" "Retinal vein occlusion" "retinal vein occlusion" "Occlusion, of retinal vein" @@ -157318,8 +157311,8 @@ "Dystrophy, Pseudohypertrophic Muscular" "Dystrophy, Duchenne Muscular" "Muscular Dystrophy, Becker" - "blood serum E3 ubiquitin-protein ligase LRSAM1 amount" "phosphatidylcholine O-38:6" + "blood serum E3 ubiquitin-protein ligase LRSAM1 amount" "blood serum eIF5-mimic protein 1 amount" "scirrhous adenocarcinoma" "fibrocarcinoma" @@ -157490,8 +157483,8 @@ "12-aminododecanoic acid" "large intestine carcinoma" "large intestine cancer" - "CRC" "CRC" + "CRC" "carcinoma of large bowel" "cancer of large bowel" "colorectal cancer" @@ -157557,11 +157550,11 @@ "adult malignant neoplasm of peripheral nerve sheath" "blood serum eukaryotic translation initiation factor 3 subunit G amount" "T-B+ SCID due to JAK3 deficiency" - "blood serum neural cell adhesion molecule 2 amount" "Spasm" "Cramp(s)" "Muscle Cramping" "Cramp" + "blood serum neural cell adhesion molecule 2 amount" "blood serum COMM domain-containing protein 9 amount" "stratum synoviale" "stratum synoviale (capsula articularis)" @@ -157693,8 +157686,8 @@ "muscle of head" "muscle organ of adult head" "head muscle organ" - "musculus caput" "head muscle" + "musculus caput" "muscle organ of head" "cephalic musculature" "coagulation factor XIV" @@ -157708,9 +157701,9 @@ "ENDOVE syndrome" "Dysplastic gangliocytoma of the cerebellum" "LDD" - "blood thialysine N-epsilon-acetyltransferase amount" "Warburg-Thomsen syndrome" "Yemenite deaf-blind hypopigmentation syndrome" + "blood thialysine N-epsilon-acetyltransferase amount" "blood pantetheinase amount" "I-index" "icterus index" @@ -157760,10 +157753,10 @@ "CDG-IIg" "Carbohydrate deficient glycoprotein syndrome type IIg" "Knee pain" + "blood serum large ribosomal subunit protein P2 amount" "Erythrocyte Corpuscular Hemoglobin Concentration Distribution Width" "Corpuscular HGB Conc Distribution Width" "CHDW" - "blood serum large ribosomal subunit protein P2 amount" "Rhamphochromis 'chilingali'" "O-linoleyl-L-carnitine" "17p11.2 microduplication syndrome" @@ -158443,8 +158436,8 @@ "Cytomegalovirus Infection" "CYTOMEGALOVIRAL DISEASE" "Cytomegaloviral disease, unspecified (disorder)" - "Human Herpesvirus 5" "CYTOMEGALIC INCLUSION DIS" + "Human Herpesvirus 5" "Salivary gland virus disease" "Infection, Cytomegalovirus" "Inclusion Disease" @@ -158882,9 +158875,9 @@ "OCABSN" "melanoma (disease) of esophagus" "esophageal melanoma" + "oesophagus melanoma (disease)" "oesophagus melanoma" "esophagus melanoma (disease)" - "oesophagus melanoma (disease)" "esophagus melanoma" "melanoma (disease) of oesophagus" "melanoma of the esophagus" @@ -159222,8 +159215,8 @@ "blood serum general transcription factor II-I amount" "juvenile polyp" "retention polyp" - "pyridine-2,3-dicarboxylic acid" "QUINOLINIC ACID" + "pyridine-2,3-dicarboxylic acid" "Quinolinic acid" "3MC syndrome 1" "3MC syndrome type 1" @@ -159654,17 +159647,17 @@ "sarcomatoid carcinoma" "pseudosarcomatous carcinoma" "inborn disorder of amino acid absorption and transport" + "Opitz-Frias syndrome" + "Hypospadias-dysphagia syndrome" + "Opitz syndrome" + "Hypertelorism-oesophageal abnormality-hypospadias syndrome" + "Hypospadias-hypertelorism syndrome" "atherosclerotic cardiovascular disease" "Atheroscleroses" "atherosclerosis of artery" "Atherogenesis" "atherosclerosis" "blood serum Ras-related protein Rab-6A amount" - "Opitz-Frias syndrome" - "Hypospadias-dysphagia syndrome" - "Opitz syndrome" - "Hypertelorism-oesophageal abnormality-hypospadias syndrome" - "Hypospadias-hypertelorism syndrome" "MGR1" "Abnormality of bone mineralisation and ossification" "Congenital sialidosis type 2" @@ -159851,11 +159844,6 @@ "astrocytic glia" "GM17136 cell" "Xenium" - "Beriberi" - "Beri Beri" - "thiamine deficiency" - "beriberi" - "vitamin B1 deficiency" "benign parathyroid gland neoplasm" "parathyroid tumour benign" "benign tumour of the parathyroid gland" @@ -159876,6 +159864,11 @@ "benign neoplasm of the parathyroid gland" "benign neoplasm of parathyroid" "benign neoplasm of the parathyroid" + "Beriberi" + "Beri Beri" + "thiamine deficiency" + "beriberi" + "vitamin B1 deficiency" "prolactin secreting neoplasm of the pituitary" "prolactin secreting pituitary tumor" "prolactin secreting pituitary gland tumour" @@ -160260,8 +160253,8 @@ "sterol metabolism" "tumor of mesonephric duct" "neoplasm of mesonephric duct" - "mesonephric tumor" "mesonephric duct neoplasm" + "mesonephric tumor" "Wolffian duct tumour" "mesonephric duct tumour" "tumour of mesonephric duct" @@ -160390,6 +160383,9 @@ "cerebellar neoplasm" "blood phospholipase A2 inhibitor and Ly6/PLAUR domain-containing protein amount" "Sonoda syndrome" + "Dislocated patellae" + "Dislocation of patella" + "Dislocated kneecap" "thymus sarcomatoid carcinoma" "thymic carcinosarcoma" "sarcomatoid carcinoma of Thymus" @@ -160397,9 +160393,6 @@ "thymic sarcomatoid carcinoma" "Thymus sarcomatoid carcinoma" "thymic spindle cell carcinoma" - "Dislocated patellae" - "Dislocation of patella" - "Dislocated kneecap" "GC" "malignant tumor of lesser curve of stomach" "malignant tumour of body of stomach" @@ -160554,8 +160547,8 @@ "Frydman-Cohen-Karmon syndrome" "(2S)-3-(2-mercapto-1H-imidazol-5-yl)-2-(trimethylazaniumyl)propanoate" "COI" - "blood serum pyruvate carboxylase, mitochondrial amount" "flower morphogenesis stage" + "blood serum pyruvate carboxylase, mitochondrial amount" "Integument" "Short stature, disproportionate short-limb" "Short stature, disproportionate short limb" @@ -160693,8 +160686,8 @@ "blood serum carcinoembryonic antigen-related cell adhesion molecule 4 amount" "primary pulmonary arterial hypertension" "IPAH" - "Hydroxyzine" "2-(2-{4-[(4-chlorophenyl)(phenyl)methyl]piperazin-1-yl}ethoxy)ethanol" + "Hydroxyzine" "blood serum neurofilament light polypeptide amount" "Navajo brainstem syndrome" "ABSD" @@ -160768,12 +160761,12 @@ "Downs Syndrome" "palmoplantar keratoderma-clinodactyly syndrome" "blood serum TSC22 domain family protein 3 amount" + "Monosomy 16q24.3" + "Del(16)(q24.3)" "stratum granulosum of ovarian follicle" "granulosa cell layer of ovarian follicle" "membrana granulosa of ovarian follicle" "ovary stratum granulosum" - "Monosomy 16q24.3" - "Del(16)(q24.3)" "blood serum ubiquitin carboxyl-terminal hydrolase 4 amount" "C-reactive protein level" "type 1 syndactyly-microcephaly-intellectual disability syndrome" @@ -160811,11 +160804,11 @@ "Dysplastic or absent corpus callosum" "Agenesis of the corpus callosum" "Absent corpus callosum" - "blood serum radiation-inducible immediate-early gene IEX-1 amount" "Venous Ulcer" "Stasis Ulcer" "Venous Hypertension Ulcers" "Venous Stasis Ulcers" + "blood serum radiation-inducible immediate-early gene IEX-1 amount" "Hypochromic anemia" "disease or disorder of common bile duct" "disease of common bile duct" @@ -160898,8 +160891,8 @@ "XX gonodal dysgenesis-deafness syndrome" "Perrault syndrome" "benign neoplasm of ovary" - "benign tumor of the ovary" "ovary benign neoplasm" + "benign tumor of the ovary" "benign tumour of ovary" "benign neoplasm of the ovary" "benign tumour of the ovary" @@ -161307,7 +161300,6 @@ "blood serum alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A amount" "blood serum retinoblastoma-like protein 2 amount" "EBV-associated lymphoproliferative disorder" - "blood serum beta-defensin 112 amount" "foetal haemorrhage into co-twin" "foetal blood loss from foetal haemorrhage into co-twin" "Twin-to-twin blood transfer" @@ -161325,6 +161317,7 @@ "Feto-fetal transfusion syndrome" "stuck Twin syndrome" "Fetal hemorrhage into co-twin (disorder)" + "blood serum beta-defensin 112 amount" "combined oxidative phosphorylation deficiency type 1" "Hepatoencephalopathy due to COXPD1" "GFM1 combined oxidative phosphorylation deficiency" @@ -161783,16 +161776,16 @@ "46,XY DSD due to LH resistance or LHB deficiency" "nm" "congenital muscular dystrophy-POMT1 related" - "severe preeclampsia" - "postpartum severe pre-eclampsia" - "severe pre-eclampsia, with delivery" - "antepartum severe pre-eclampsia" - "Preeclampsia with severe features" "amyotrophic lateral sclerosis caused by mutation in ALS2" "amyotrophic lateral sclerosis 2" "ALS2" "ALS2 amyotrophic lateral sclerosis" "amyotrophic lateral sclerosis 2, juvenile" + "severe preeclampsia" + "postpartum severe pre-eclampsia" + "severe pre-eclampsia, with delivery" + "antepartum severe pre-eclampsia" + "Preeclampsia with severe features" "infection by Microsporida" "Microsporidia infection" "microsporidiosis" @@ -161971,6 +161964,12 @@ "infantile Rathburn disease" "HOPS" "Septopreoptic HPE" + "SUM 185PE" + "185PE" + "SUM185" + "SUM-185PE" + "SUM-185" + "SUM 185" "Ancylostoma infectious disease" "Ancylostoma caused disease or disorder" "Ancylostoma disease or disorder" @@ -161978,12 +161977,6 @@ "Ancylostomiasis" "ancylostomiasis" "Ancylostomiasis (disorder)" - "SUM 185PE" - "185PE" - "SUM185" - "SUM-185PE" - "SUM-185" - "SUM 185" "blood serum protein FAM3A amount" "blue cone monochromacy, X-linked recessive" "colour blindness, blue monocone monochromatic type" @@ -162003,14 +161996,14 @@ "vertebrate trachea" "windpipe" "cartilaginous trachea" + "normal pressure hydrocephalus" "hydrocephalus, normal pressure, 1" "NPH" - "Hydrocephalus, Normal Pressure" + "chronic adult hydrocephalus" "Normal pressure hydrocephalus (disorder)" "Low pressure hydrocephalus" "low pressure hydrocephalus" - "normal pressure hydrocephalus" - "chronic adult hydrocephalus" + "Hydrocephalus, Normal Pressure" "opsismodysplasia" "coloboma of macula" "blood serum dynamin-1-like protein amount" @@ -162029,9 +162022,9 @@ "disseminated granulomatous dermatophytosis" "deep seated dermatophytosis" "deep dermatophytosis" + "pseudohypoparathyroidism Ic" "SCAR11" "Autosomal recessive spinocerebellar ataxia type 11" - "pseudohypoparathyroidism Ic" "thyroid gland follicle" "GM14474 cell" "blood serum annexin A10 amount" @@ -162129,10 +162122,10 @@ "precursor lymphoblastic leukaemia" "precursor cell lymphoblastic leukemia" "precursor Lymphoblasic leukemia" - "infection due to Corynebacterium minutissimum" "Emesis" "Throwing up" "Vomiting" + "infection due to Corynebacterium minutissimum" "GM17292 cell" "acetic acid" "ACETIC ACID" @@ -162168,10 +162161,10 @@ "central conducting lymphatic anomaly" "lymphatic malformation 12" "LMPHM12" - "blood serum ubiquitin domain-containing protein 2 amount" "Pierre Robin sequence - congenital heart defect - talipes" "Pierre Robin syndrome - congenital heart defect - talipes" "Talipes equinovarus - atrial septal defect - Robin sequence - Persistence of the left superior vena cava" + "blood serum ubiquitin domain-containing protein 2 amount" "Postoperative Nausea and Vomiting" "blood serum protein kinase C and casein kinase substrate in neurons protein 3 amount" "fl" @@ -162234,8 +162227,8 @@ "neoplastic polyp" "muscle of heart" "heart myocardium" - "femoral intercalary meromelia, unilateral" "Trichophyton ajelloi" + "femoral intercalary meromelia, unilateral" "OLEIC ACID" "(9Z)-octadec-9-enoic acid" "Oleic acid" @@ -162264,11 +162257,11 @@ "HFE2B" "HCC-2935" "major vestibular gland benign neoplasm" + "3beta-hydroxy-20-oxopregn-5-ene-16alpha-carbonitrile" + "pregnenolone 16alpha-carbonitrile" "Alfi syndrome" "9p deletion syndrome" "9p- syndrome" - "3beta-hydroxy-20-oxopregn-5-ene-16alpha-carbonitrile" - "pregnenolone 16alpha-carbonitrile" "Short scapulae" "Small scapulae" "Small scapula" @@ -162280,8 +162273,8 @@ "LDS6" "endometrial carcinoma (disease)" "carcinoma of endometrium" - "carcinoma of the endometrium" "endometrial carcinoma" + "carcinoma of the endometrium" "endometrial cancer" "endometrium carcinoma" "carcinoma, endometrial, malignant" @@ -162620,9 +162613,9 @@ "LCH" "Herbaspirillum seropedicae strain SmR1" "Herbaspirillum seropedicae str. SmR1" + "macrocephaly-intellectual disability-autism syndrome" "Ficoll gradient" "Ficoll WBC Isolation" - "macrocephaly-intellectual disability-autism syndrome" "MRSA Pneumonia" "Methicillin-Resistant Staphylococcus Aureus Pneumonia" "Methicillin-Resistant Staphylococcus aureus Pneumonia" @@ -162647,12 +162640,12 @@ "Salmonella enterica VI" "psoriatic arthritis, susceptibility" "psoriatic arthritis, susceptibility to" + "blood serum immunoglobulin superfamily DCC subclass member 4 amount" "pseudo-Morquio disease type I" "DMC disease" "Dyggve-Melchior-Clausen syndrome" "Dyggve Melchior Clausen syndrome" "Dyggve-Melchior-Clausen disease" - "blood serum immunoglobulin superfamily DCC subclass member 4 amount" "Dubin Johnson syndrome" "chronic idiopathic jaundice" "Hyperbilirubinemia type 2" @@ -162689,6 +162682,12 @@ "brain-resident macrophage" "microgliocyte" "hortega cells" + "bladder calculus" + "bladder stone" + "bladder stones" + "Urinary Bladder Calculi" + "vesical calculi" + "cystoliths" "Schimke immuno-osseous dysplasia" "spondyloepiphyseal dysplasia - nephrotic syndrome" "immunoosseous dysplasia Schimke type" @@ -162696,12 +162695,6 @@ "Schimke immunoosseous dysplasia" "spondyloepiphyseal dysplasia-nephrotic syndrome" "blood serum histone-lysine N-methyltransferase EZH2 amount" - "bladder calculus" - "bladder stone" - "bladder stones" - "Urinary Bladder Calculi" - "vesical calculi" - "cystoliths" "blood serum spermatogenesis-associated protein 22 amount" "VLDL hyperlipoproteinemia" "endogenous hyperlipidaemia" @@ -163277,9 +163270,9 @@ "Congenital erythrocytosis due to erythropoietin receptor mutation" "Familial erythrocytosis" "Primary congenital erythrocytosis" + "blood serum glycine N-acyltransferase-like protein 2 amount" "Norman-Landing disease" "Infantile GM1 gangliosidosis" - "blood serum glycine N-acyltransferase-like protein 2 amount" "hypomagnesemia, seizures, and intellectual disability" "hypomagnesemia, seizures, and mental retardation" "disaccharide intolerance with minimal starch tolerance" @@ -163359,6 +163352,11 @@ "paralysis, respiratory" "hereditary prion disease" "familial prion disease" + "SUM-190PT" + "SUM-190" + "SUM 190PT" + "SUM190" + "SUM 190" "anisakiasis" "infection by Anisakis larva" "Infection by Anisakis larva (disorder) [Ambiguous]" @@ -163366,11 +163364,7 @@ "Anisakiasis" "Anisakiasis (disorder)" "Infection by Anisakis larva" - "SUM-190PT" - "SUM-190" - "SUM 190PT" - "SUM190" - "SUM 190" + "benign tumour of Ear" "benign Ear tumor" "aural neoplasms, benign" "benign Ear tumour" @@ -163380,7 +163374,6 @@ "benign neoplasm of the Ear" "benign tumour of the Ear" "benign Ear neoplasm" - "benign tumour of Ear" "blood serum clathrin heavy chain 1 amount" "nevoid basal cell cancer syndrome" "NBCCS" @@ -163400,13 +163393,13 @@ "Lactococcus lactis cremoris" "Lactococcus cremoris" "Streptococcus lactis B" + "MRGH" "Bos syndrome" "Bohring-Opitz syndrome" "Oberklaid-Danks syndrome" "Bohring syndrome" "C-like syndrome" "Opitz trigonocephaly-like syndrome" - "MRGH" "Vermian atrophy" "Atrophy of the cerebellar vermis" "Atrophy of cerebellar vermis" @@ -163482,14 +163475,6 @@ "small intestinal sarcoma" "GM14468 cell" "Say-Barber-Hobbs syndrome" - "skin eruption" - "rash|exanthema" - "exanthem (disease)" - "Rash" - "skin Rash" - "cutaneous eruption" - "exanthem" - "exanthema" "acute monocytic leukemia, morphology" "leukemia, monocytic, malignant" "AML M5" @@ -163518,6 +163503,14 @@ "hereditary acute myeloid leukemia" "Pure familial acute myeloid leukaemia" "Pure familial acute myeloid leukemia" + "skin eruption" + "rash|exanthema" + "exanthem (disease)" + "Rash" + "skin Rash" + "cutaneous eruption" + "exanthem" + "exanthema" "Recurrent inflammation of tonsils" "CSS" "leukodystrophy, hypomyelinating, 15" @@ -163625,13 +163618,6 @@ "occupational eczema" "occupational allergic contact dermatitis" "occupational eczema (disorder) [ambiguous]" - "Scyliorhinus caniculus" - "smaller spotted dogfish" - "Scyliorhinus canicula (Linnaeus, 1758)" - "smaller spotted catshark" - "spotted catshark" - "spotted dogfish" - "blood serum multiple inositol polyphosphate phosphatase 1 amount" "BECTS" "Benign familial epilepsy of childhood with rolandic spikes" "Benign epilepsy of childhood with centrotemporal spikes" @@ -163639,6 +163625,13 @@ "BECRS" "Centrotemporal epilepsy" "BRE" + "Scyliorhinus caniculus" + "smaller spotted dogfish" + "Scyliorhinus canicula (Linnaeus, 1758)" + "smaller spotted catshark" + "spotted catshark" + "spotted dogfish" + "blood serum multiple inositol polyphosphate phosphatase 1 amount" "truncus encephali" "brain stem" "epithelium of lactiferous gland" @@ -163761,12 +163754,12 @@ "rare disorder with secondary hypogonadism" "blood 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 amount" "blood serum annexin A11 amount" + "synovitis (disease)" + "Synovial Hypertrophy" + "Synovial Thickening" "synovial membrane of synovial joint inflammation" - "synovitis" "inflammation of synovial membrane of synovial joint" - "Synovial Thickening" - "Synovial Hypertrophy" - "synovitis (disease)" + "synovitis" "vulvar squamous papilloma" "vestibular papilloma" "mammalian vulva squamous papilloma" @@ -163988,10 +163981,10 @@ "Waddling gait" "Waddling walk" "blood serum B-cell lymphoma/leukemia 10 amount" - "blood serum protein YAE1 amount" "ATP-binding cassette transporter A1 deficiency" "Analphalipoproteinemia" "Defective adenosine triphosphate-binding cassette transporter A1" + "blood serum protein YAE1 amount" "blood serum phosducin-like protein amount" "blood ribose amount" "blood serum apoptosis-inducing factor 1, mitochondrial amount" @@ -164178,12 +164171,12 @@ "caecum in situ carcinoma" "caecum carcinoma in situ" "cecum carcinoma in situ" - "SPG65" - "SPG45" - "Autosomal recessive spastic paraplegia type 65" "G361-mel" "G361mel" "blood serum activity-regulated cytoskeleton-associated protein amount" + "SPG65" + "SPG45" + "Autosomal recessive spastic paraplegia type 65" "Syphilis, Latent" "latent syphilis" "blood serum phospholipase A1 member A amount" @@ -164277,10 +164270,10 @@ "pharynx muscle organ" "pharynx muscle" "pharyngeal muscle" - "ASD, sinus venosus type" "Bartter syndrome type III" "Bartter syndrome type 3" "Adult Bartter syndrome" + "ASD, sinus venosus type" "Extreme thirst" "blood serum copine-7 amount" "blood serum neurexophilin-2 amount" @@ -164466,7 +164459,6 @@ "idiopathic PAP" "idiopathic pulmonary alveolar proteinosis" "porphyria" - "chlamydiaceae infections" "pediatric osteosarcoma" "childhood osteosarcoma" "pediatric osteosarcoma (disease)" @@ -164476,15 +164468,16 @@ "childhood osteogenic sarcoma" "blood Z-DNA-binding protein 1 amount" "pelvic fins" - "colitis of indeterminate type" - "indeterminate colitis" "disorder of eyelid" "eyelid disorder" "disease or disorder of eyelid" "eyelid disease" "disease of eyelid" "eyelid disease or disorder" + "chlamydiaceae infections" "blood serum hemoglobin subunit epsilon amount" + "colitis of indeterminate type" + "indeterminate colitis" "response to mercaptopurine trait" "blood serum dual specificity mitogen-activated protein kinase kinase 5 amount" "blood serum leukosialin amount" @@ -164662,19 +164655,19 @@ "SUM 225CWN" "SUM-225" "SUM-225CWN" - "anogenital Human papilloma Virus infectious disease" - "anogenital Human papilloma Virus infection" - "anogenital Warts" - "Anogenital Human papilloma Virus Infectious Disease" - "venereal wart" - "anogenital human papillomavirus infection" - "Condylomata Acuminata" "genital Warts" + "venereal wart" + "anogenital venereal wart" "genital wart virus infectious disease" + "Condylomata Acuminata" + "Anogenital Human papilloma Virus Infectious Disease" + "anogenital human papillomavirus infection" "Anogenital warts (disorder)" - "anogenital venereal wart" - "Genital warts" + "anogenital Human papilloma Virus infectious disease" "anogenital Human Papillomavirus infection" + "anogenital Warts" + "anogenital Human papilloma Virus infection" + "Genital warts" "benign tumour of the nasal cavity" "nasal cavity benign neoplasm" "benign tumor of nasal cavity" @@ -164834,8 +164827,8 @@ "acute granulocytic leukaemia" "acute myelogenous leukaemia" "acute myeloid leukemia" - "ANLL" "ANLL" + "ANLL" "leukemia, myelocytic, acute" "myeloid leukemia, acute, M4/M4Eo subtype, somatic" "AML - acute myeloid leukemia" @@ -164865,8 +164858,8 @@ "blood serum frizzled-4 amount" "Okt4 epitope deficiency" "Saito-Kuba-Tsuruta syndrome" - "thyrotoxicosis" "Teebi-Al Saleh-Hassoon syndrome" + "thyrotoxicosis" "Male EBP disorder with neurological defects" "TAG 54:4" "lupus glomerulonephritis" @@ -165059,13 +165052,13 @@ "acute leukemia of ambiguous lineage" "mixed lineage acute leukaemia" "acute leukaemia of indeterminate lineage" - "X-linked dominant intellectual disability - epilepsy" "LADD syndrome" "Levy-Hollister syndrome" "Lacrimoauriculoradiodental syndrome" "LARD syndrome" "SIFD syndrome" "SIFD" + "X-linked dominant intellectual disability - epilepsy" "blood serum AP-1 complex subunit gamma-like 2 amount" "set of bones of cranium" "bones of cranium" @@ -165128,10 +165121,10 @@ "gamma-aminobutyrate transaminase activity" "gamma-amino-N-butyrate transaminase activity" "Pfeiffer-Palm-Teller syndrome" + "blood serum integrin beta-5 amount" "cystic disease of lung" "Populus diversifolia" "Popolus euphratica" - "blood serum integrin beta-5 amount" "Mikulicz disease" "sicca syndrome" "Sjogren's syndrome (disorder)" @@ -165260,14 +165253,14 @@ "blood serum probable E3 ubiquitin-protein ligase TRIML1 amount" "Spastic quadriplegic cerebral palsy" "Inherited congenital spastic quadriplegia" + "childhood adrenal gland pheochromocytoma" + "malignant childhood adrenal gland pheochromocytoma" "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness" "EDS, kyphoscoliotic and hearing loss type" "EDS with progressive kyphoscoliosis, myopathy, and deafness" "Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type" "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss" "EDS with progressive kyphoscoliosis, myopathy, and hearing loss" - "childhood adrenal gland pheochromocytoma" - "malignant childhood adrenal gland pheochromocytoma" "L-seryl-L-tyrosyl-L-seryl-L-methionyl-L-alpha-glutamyl-L-histidyl-L-phenylalanyl-L-arginyl-L-tryptophylglycyl-L-lysyl-L-prolyl-L-valylglycyl-L-lysyl-L-lysyl-L-arginyl-L-arginyl-L-prolyl-L-valyl-L-lysyl-L-valyl-L-tyrosyl-L-prolyl-L-alpha-aspartylglycyl-L-alanyl-L-alpha-glutamyl-L-alpha-aspartyl-L-alpha-glutamyl-L-seryl-L-alanyl-L-alpha-glutamyl-L-alanyl-L-phenylalanyl-L-prolyl-L-leucyl-L-alpha-glutamyl-L-phenylalanine" "Corticotropin" "blood serum adhesion G-protein coupled receptor D1 amount" @@ -165452,8 +165445,8 @@ "blood serum large ribosomal subunit protein mL38 amount" "autosomal dominant striatal neurodegeneration" "ADSD" - "vaginal adenoma" "vagina adenoma" + "vaginal adenoma" "hybrid selection" "blood serum activin/inhibin beta A chain amount" "blood serum myelin P0 protein amount" @@ -166022,8 +166015,8 @@ "oncocytic hepatocellular tumour" "fibrolamellar carcinoma of liver cells" "fibrolamellar cancer" - "FHCC" "FHCC" + "FHCC" "middle interhemispheric variant of holoprosencephaly" "MIH" "MIHV" @@ -166118,11 +166111,11 @@ "spermatogenic failure 8" "spermatogenic failure type 8" "azoospermia caused by mutation in NR5A1" + "serotonin syndrome" "serotonergic syndrome" "serotonin toxicity" "serotonin storm" "serotonin toxidrome" - "serotonin syndrome" "benign tongue tumor" "benign tongue neoplasm" "tongue benign neoplasm" @@ -166297,15 +166290,15 @@ "small bowel Crohn disease" "DYT33" "blood spectrin beta chain, non-erythrocytic 2 amount" + "Cortisone" + "cortisone" + "17,21-dihydroxypregn-4-ene-3,11,20-trione" "HPS11" "mesothelioma, benign" "benign tumour of mesothelium" "benign tumor of mesothelial tissue" "benign tumor of mesothelium" "benign tumour of mesothelial tissue" - "Cortisone" - "cortisone" - "17,21-dihydroxypregn-4-ene-3,11,20-trione" "retroperitoneal space tumor" "tumor of retroperitoneal space" "retroperitoneal space tumour" @@ -166756,10 +166749,10 @@ "6-deoxycathasterone" "(22S)-5alpha-campestane-3beta,22-diol" "Pierre Robin sequence associated with a chromosomal anomaly" - "hereditary osteosclerosis" "acetate" "STHAG2" "tooth agenesis, selective, 2" + "hereditary osteosclerosis" "Barnes syndrome" "thoracolaryngopelvic dysplasia" "thoracopelvic dysostosis" @@ -166877,13 +166870,13 @@ "benign reproductive system neoplasm" "blood serum perilipin-3 amount" "PAPB" + "Monosomy 9p13" + "Del(9)(p13)" "pancreatic adenocarcinoma" "adenocarcinoma - pancreas" "pancreas adenocarcinoma" "adenocarcinoma of pancreas" "adenocarcinoma of the pancreas" - "Monosomy 9p13" - "Del(9)(p13)" "blood serum large ribosomal subunit protein mL52 amount" "pilocytic astrocytoma of the cerebellum" "cerebellum pilocytic astrocytoma" @@ -166922,8 +166915,8 @@ "MDS with single lineage dysplasia" "refractory anaemia" "MDS-SLD" - "RA" "RA" + "RA" "uterine inversion" "blood serum acetyl-CoA acetyltransferase, cytosolic amount" "advanced malignant peritoneal mesothelioma" @@ -167036,17 +167029,17 @@ "Crystalline stromal dystrophy" "Schnyder crystalline corneal dystrophy" "lateral cord surface glia" - "ML DmD16 c3" - "DmD16_c3" - "D16-c3" - "DmD16-c3" - "ML_DmD16_c3" "combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome" "Cernunnos XLFD" "NHEJ1 deficiency" "Cernunnos-XLF deficiency" "combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionising radiation syndrome" "Cernunnos deficiency" + "ML DmD16 c3" + "DmD16_c3" + "D16-c3" + "DmD16-c3" + "ML_DmD16_c3" "GVHDS" "adult visceral muscle" "JEB2B" @@ -167291,8 +167284,8 @@ "Drug-induced akathisia (disorder)" "drug-induced akathisia" "Akathisia, Drug-Induced" - "bulbus" "blood serum hepatocyte nuclear factor 1-alpha amount" + "bulbus" "blood serum probable ATP-dependent RNA helicase DDX6 amount" "Torulopsis glabrata" "neoplasm of vestibulocochlear nerve" @@ -167494,11 +167487,11 @@ "epidermolysis bullosa hereditaria" "RGC6" "RCB2854" + "IDMDC" "Rash acneiform" "acneiform eruptions" "acneiform eruption" "acneiform dermatitis" - "IDMDC" "peripheral nerve lesion of ulnar nerve" "ulnar nerve peripheral nerve lesion" "lesion of ulnar nerve" @@ -167507,7 +167500,6 @@ "Complete or partial absence of the corpus callosum" "Agenesis/hypoplastic corpus callosum" "Hypoplasia or absence of the corpus callosum" - "DYT21" "U2-OS" "non-invasive carcinoma of breast" "non-invasive carcinoma of the breast" @@ -167531,6 +167523,7 @@ "non-infiltrating breast carcinoma" "breast carcinoma in situ" "blood serum kinesin light chain 1 amount" + "DYT21" "ipochord" "subnotochordal rod" "blood serum V-set and immunoglobulin domain-containing protein 10-like amount" @@ -167713,8 +167706,8 @@ "vitamin metabolism" "blood serum zinc finger protein 334 amount" "GM17798 cell" - "Clark level V melanoma" "MGA4" + "Clark level V melanoma" "keratotic plaque" "leukoplakia" "Abamectin" @@ -167997,11 +167990,10 @@ "hepatopancreatic ampulla adenosquamous carcinoma" "NCI-H322" "H322T" - "Friend Virus B NIH" - "FVB/N-Pde6b^rd1" "Agnosia" "T.DP69+.Th" - "LGMD due to POMK deficiency" + "Friend Virus B NIH" + "FVB/N-Pde6b^rd1" "myotonic dystrophy caused by mutation in CNBP" "ricker syndrome" "proximal myotonic dystrophy" @@ -168009,6 +168001,7 @@ "ricker disease" "proximal myotonic myopathy" "myotonic dystrophy type 2" + "LGMD due to POMK deficiency" "blood serum UDP-glucuronosyltransferase 1-6 amount" "psychogenic amnesia" "blood reticulon-4-interacting protein 1 amount" @@ -168018,6 +168011,7 @@ "syndromic nail anomaly" "syndrome associated with nail anomaly" "blood serum late cornified envelope protein 3C amount" + "benign neoplasm of the anus" "benign tumour of the anus" "benign anal neoplasm" "benign tumor of anus" @@ -168026,20 +168020,19 @@ "benign anal tumor" "anus benign neoplasm" "benign anal tumour" - "benign neoplasm of the anus" "benign urinary bladder tumour" "benign tumor of urinary bladder" "benign tumor of the urinary bladder" - "benign bladder neoplasm" "benign urinary bladder neoplasm" + "benign bladder neoplasm" "benign tumour of bladder" "benign tumor of the bladder" "benign neoplasm of the urinary bladder" "benign bladder tumour" "urinary bladder benign neoplasm" "benign neoplasm of bladder" - "benign urinary bladder tumor" "benign neoplasm of urinary bladder" + "benign urinary bladder tumor" "benign neoplasm of the bladder" "benign tumour of the bladder" "benign tumour of the urinary bladder" @@ -168202,6 +168195,7 @@ "thyroid crisis" "thyrotoxic crisis" "(9Z)-hexadec-9-enamide" + "glycerate" "familial renal amyloidosis due to apolipoprotein A-II variant" "hereditary renal amyloidosis due to apolipoprotein A-II variant" "familial amyloid nephropathy due to apolipoprotein A-II variant" @@ -168323,8 +168317,8 @@ "clear cell sarcoma - kidney" "childhood kidney clear cell sarcoma" "childhood renal clear cell sarcoma" - "CCSK" "CCSK" + "CCSK" "paediatric renal clear cell sarcoma" "pediatric kidney clear cell sarcoma" "childhood clear cell sarcoma of the kidney" @@ -168453,11 +168447,11 @@ "PTORCH3" "PSEUDO-TORCH SYNDROME 3" "blood serum hepatocyte nuclear factor 4-alpha amount" - "Hemoglobin G Coushatta/Total Hemoglobin" - "HBGCHTHB" "Acrocephalosyndactyly type 3" "ACS3" "SCS" + "Hemoglobin G Coushatta/Total Hemoglobin" + "HBGCHTHB" "avocado" "Persea americanum" "anti-ANO2 antibody" @@ -168686,8 +168680,8 @@ "refractory anaemia with ringed sideroblasts" "refractory Anemia with Ring sideroblasts" "Pure sideroblastic Anaemia" - "RARS" "RARS" + "RARS" "acquired idiopathic sideroblastic anemia" "NISCH syndrome" "IHSC" @@ -168965,8 +168959,8 @@ "level of phosphatidylethanolamine O-16:1_18:2 in blood serum" "blood serum phosphatidylethanolamine O-16:1_18:2 amount" "non-Hodgkins lymphoma" - "NHL" "NHL" + "NHL" "non-Hodgkin's lymphoma" "non-Hodgkin lymphoma" "non-Hodgkin's lymphoma (NHL)" @@ -169062,6 +169056,9 @@ "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15" "congenital disorder of glycosylation type 1o" "DPM3-CDG" + "Waardenburg syndrome type 1" + "WS1" + "Waardenburg syndrome type I" "tumour of the skull base" "basicranium tumor" "skull base tumor" @@ -169080,9 +169077,6 @@ "tumour of basicranium" "neoplasm of skull base" "tumor of the skull base" - "Waardenburg syndrome type 1" - "WS1" - "Waardenburg syndrome type I" "teratoma of the adult central nervous system" "teratoma of adult CNS" "adult central nervous system teratoma" @@ -169132,6 +169126,7 @@ "blood serum polypeptide N-acetylgalactosaminyltransferase 11 amount" "blood serum lipocalin-1 amount" "blood serum carbonic anhydrase 5B, mitochondrial amount" + "SPOAN" "intellectual developmental disorder, autosomal recessive 57" "intellectual disability, autosomal recessive type 57" "autosomal recessive non-syndromic intellectual disability caused by mutation in MBOAT7" @@ -169140,7 +169135,6 @@ "mental retardation, autosomal recessive type 57" "MBOAT7 autosomal recessive non-syndromic intellectual disability" "mental retardation, autosomal recessive 57" - "SPOAN" "oculocutaneous albinism, type VIII" "OCA8" "oculocutaneous albinism, type 8" @@ -169295,9 +169289,9 @@ "plexopathy" "nerve plexus disease or disorder" "blood serum ADP-ribosylation factor-like protein 1 amount" + "colorectal serrated adenocarcinoma" "mitral valve prolapse, myxomatous 2" "MMVP2" - "colorectal serrated adenocarcinoma" "Plasmodium falciparum (isolate 3D7)" "PLASMODIUM FALCIPARUM (ISOLATE 3D7)." "Inability to make and keep healthy fat tissue" @@ -170045,17 +170039,17 @@ "IL-7R" "IL-7Ralpha deficiency" "T-B+ SCID due to IL-7Ralpha deficiency" - "SAD" - "childhood separation anxiety disorder" + "separation anxiety in childhood" "adult separation anxiety disorder" - "separation anxiety" "Adult-Onset Separation Anxiety Disorder" - "adult separation anxiety" + "separation anxiety" "separation anxiety disorder" + "childhood separation anxiety disorder" + "adult separation anxiety" + "Pediatric-Onset Separation Anxiety Disorder" "Children's separation anxiety" - "separation anxiety in childhood" "childhood separation anxiety" - "Pediatric-Onset Separation Anxiety Disorder" + "SAD" "blood serum magnesium transporter NIPA4 amount" "ribonucleoside triphosphate biosynthesis" "ribonucleoside triphosphate formation" @@ -170088,9 +170082,9 @@ "Non-obese Diabetic" "NK.G2A+.SP" "blood serum transformer-2 protein homolog beta amount" - "Stoll-Lévy-Francfort syndrome" "N-ACETYL-L-CYSTEINE" "N-acetyl-L-cysteine" + "Stoll-Lévy-Francfort syndrome" "blood serum procollagen galactosyltransferase 2 amount" "Pseudofolliculitis barbae" "rhinoscleroma" @@ -170507,9 +170501,9 @@ "malignant neoplasm of palatine tonsil" "GM15227 cell" "blood serum beta-defensin 1 amount" + "tarsal-carpal coalition syndrome" "Chitosan" "(1->4)-2-amino-2-deoxy-beta-D-glucan" - "tarsal-carpal coalition syndrome" "HIV" "AIDS virus" "Pierson syndrome" @@ -170575,9 +170569,6 @@ "H-727" "Renal dysplasia - mesomelia - radiohumeral fusion" "Renal dysplasia - limb defects" - "organ system" - "connected anatomical system" - "body system" "small cell car. (extrapulmonary)" "small cell neuroendocrine carcinoma" "oat cell carcinoma" @@ -170586,6 +170577,9 @@ "small cell carcinoma (extrapulmonary)" "small cell carcinoma" "oat cell cancer" + "organ system" + "connected anatomical system" + "body system" "SLS" "Sjogren Larsson syndrome" "Sjogren-Larsson syndrome" @@ -170720,10 +170714,10 @@ "MENTAL RETARDATION, autosomal recessive 64" "Meckel syndrome type 12" "vulvar keratinizing squamous cell carcinoma" + "blood plasma interleukin-33 amount" "Dup(17)(p13.3)" "Trisomy 17p13.3" "17p13.3 duplication syndrome" - "blood plasma interleukin-33 amount" "blood coiled-coil domain-containing protein 28A amount" "3-phosphoglycerate dehydrogenase deficiency, prenatal form" "PHGDH Neu-Laxova syndrome" @@ -170837,13 +170831,13 @@ "hyperlipidemia (disease)" "Abnormality of the toenails" "Abnormality of the toenail" + "response to Opdivo" "Occidental" "Caucasians" "White" "Whites" "European" "Caucasoid" - "response to Opdivo" "spinocerebellar ataxia 42" "SCA42" "spinocerebellar ataxia type 42" @@ -170859,8 +170853,8 @@ "polycythemia vera" "Osler-Vaquez syndrome" "polycythemia rubra vera" - "PV" "PV" + "PV" "polycythaemia rubra vera" "acquired polycythemia vera" "proliferative polycythaemia" @@ -170973,8 +170967,8 @@ "non-secretory pituitary gland adenoma" "silent pituitary gland adenoma" "non-functioning pituitary gland adenoma" - "NFPA" "NFPA" + "NFPA" "functionless adenoma of pituitary gland" "functionless pituitary adenoma" "non-functioning adenoma of the pituitary gland" @@ -171021,12 +171015,12 @@ "blood serum oligodendrocyte-myelin glycoprotein amount" "blood serum insulin-like growth factor-binding protein 3 amount" "Jones syndrome" + "jejunal neuroendocrine neoplasm" "C9ORF72-related Huntington disease-like syndrome" "C9ORF72-related Huntington disease phenocopy" "C9ORF72-related Huntington's disease phenocopy" "Huntington's disease-like syndrome due to C9ORF72 expansions" "Huntington disease phenocopy due to C9ORF72 expansions" - "jejunal neuroendocrine neoplasm" "progressive diffuse palmoplantar keratoderma" "progressive diffuse PPK" "Greither disease" @@ -171107,11 +171101,11 @@ "High urine homocystine levels" "2-(2,2-dicyclohexylethyl)piperidine" "Perhexiline" - "blood serum sushi domain-containing protein 1 amount" "HSB-2" "HSB.2" "HSB2" "GM04155" + "blood serum sushi domain-containing protein 1 amount" "IgG mono-sialylation measurement" "B-2 B-cell" "B2 B-cell" @@ -171368,8 +171362,8 @@ "Bones, Broken" "bone fracture" "Fractures, Bone" - "Bone Fractures" "Broken Bone" + "Bone Fractures" "Bone, Broken" "fracture of bone" "Broken Bones" @@ -171464,8 +171458,8 @@ "blood laminin subunit alpha-1 amount" "High blood leucine concentration" "blood serum guanine nucleotide-binding protein G(i) subunit alpha-1 amount" - "genetic osteochondrosis" "embryonic/larval corpus allatum" + "genetic osteochondrosis" "blood serum voltage-gated potassium channel KCNF1 amount" "leiomyomatous tumour" "fibroid" @@ -171763,11 +171757,11 @@ "central nervous system leukaemia (disease)" "blood serum NEDD8 ultimate buster 1 amount" "blood serum Ras-related protein Rab-33A amount" + "MDA-MB-134VI" "MDAMB134" "MDAMB134VI" "MDA-MB-134" "MDA-134" - "MDA-MB-134VI" "Streptomyces hygroscopicus var. jinggangensis" "'Streptomyces hygroscopicus subsp. jinggangensis'" "hereditary cerebral haemorrhage with amyloidosis, Iowa type" @@ -172325,8 +172319,8 @@ "intraepithelial neoplasia of the vulva grade 1" "blood inactive carboxypeptidase-like protein X2 amount" "B-cell lymphocytic leukaemia" - "CLL" "CLL" + "CLL" "B-CLL" "BCLL" "BCLL" @@ -172437,6 +172431,7 @@ "Monosomy 10q22.3q23.3" "Deletion 10q22.3q23.3" "Del(10)(q22.3q23.3)" + "46,XY DSD of gynecological interest" "uveal tumour" "uvea tumour" "neoplasm of uvea" @@ -172449,7 +172444,6 @@ "neoplasm of the uvea" "uveal neoplasm" "tumor of uvea" - "46,XY DSD of gynecological interest" "Hemoglobin Tetramer" "HGBTET" "Rickettsia trachomae" @@ -172747,8 +172741,6 @@ "congenital pulmonary lymphangiectasis" "Diffuse Pulmonary Lymphangiomatosis" "pulmonary lymphangiomatosis" - "papillary cystadenoma" - "cystadenoma, papillary, benign" "Incorrect relation between upper and lower dental arches" "Misalignment of upper and lower dental arches" "Malocclusion of teeth" @@ -172758,6 +172750,8 @@ "Malalignment of upper and lower dental arches" "Bilateral crossbite" "Malocclusion" + "papillary cystadenoma" + "cystadenoma, papillary, benign" "(1->3)-beta-D-glucopyranan" "blood serum 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4 amount" "genochondromatosis" @@ -172781,14 +172775,14 @@ "blood acyl-coenzyme A thioesterase 13 amount" "Light or infrequent menstrual periods" "GM14507 cell" - "vertebra bone" - "vertebrae" "aminoacylase 1 deficiency" "ACY1D" "neurological conditions associated with aminoacylase 1 deficiency" "Deficiency of the aminoacylase-1 enzyme" "Aminoacylase-1 deficiency" "N-acyl-L-amino acid amidohydrolase deficiency" + "vertebra bone" + "vertebrae" "blood serum microfibrillar-associated protein 5 amount" "blood serum interleukin-1 family member 10 amount" "CTRCT13" @@ -172915,9 +172909,9 @@ "distal duplication 7p" "broadband ultrasound attenuation" "bone quantitative ultrasound" - "GM17258 cell" "coenzyme Q10 deficiency, primary, type 7" "COQ4-related neonatal encephalomyopathy" + "GM17258 cell" "blood coiled-coil and C2 domain-containing protein 1A amount" "Decreased vibratory sense in the lower extremities" "Distal vibratory impairment of the lower limbs" @@ -173111,8 +173105,8 @@ "GLYOXYLIC ACID" "oxoacetic acid" "blood serum calcium-binding protein 39-like amount" - "RCC" "RCC" + "RCC" "renal cell carcinoma (disease)" "kidney adenocarcinoma" "hypernephroma" @@ -173315,12 +173309,13 @@ "idiopathic and/or familial pulmonary arterial hypertension" "pulmonary hypertension, primary, type 1" "IFPAH" - "Monosomy 15q11.2" - "Del(15)(q11.2)" "blood serum tryptophan--tRNA ligase, mitochondrial amount" "occlusion and stenosis of carotid artery" "carotid artery segment occlusion precerebral artery" "occlusion precerebral artery of carotid artery segment" + "Monosomy 15q11.2" + "Del(15)(q11.2)" + "U3118" "dental disorder" "calcareous tooth disease" "calcareous tooth disease or disorder" @@ -173330,7 +173325,6 @@ "disease or disorder of calcareous tooth" "dental disease" "disorder of calcareous tooth" - "U3118" "arthrocutaneouveal granulomatosis" "Blau syndrome" "paediatric granulomatous arthritis" @@ -173790,8 +173784,8 @@ "chronic myelomonocytic leukemia" "juvenile chronic myeloid leukaemia" "leukemia, juvenile myelomonocytic, autosomal dominant, somatic mutation" - "JMML" "JMML" + "JMML" "juvenile myelomonocytic leukemia, autosomal dominant, somatic mutation" "leukemia, juvenile myelomonocytic, somatic" "juvenile myelomonocytic leukemia" @@ -173879,8 +173873,8 @@ "myoclonus, familial cortical" "familial cortical myoclonus" "blood serum Ras-related protein Rab-4A amount" - "CMT2N" "vLDL cholesterol measurement" + "CMT2N" "thymic atrophy" "atrophied thymus" "atrophic thymus" @@ -174000,10 +173994,10 @@ "tumor of cecum" "glycoprotein deglycosylation" "dissection of carotid artery" - "blood serum histone-lysine N-methyltransferase ASH1L amount" "Dyskeratosis congenita with bilateral exudative retinopathy" "Revesz-DeBuse syndrome" "Retinopathy-anemia-central nervous system anomalies syndrome" + "blood serum histone-lysine N-methyltransferase ASH1L amount" "Short stature - facial and skeletal anomalies - intellectual disability - macrodontia" "Spinal Cord Trauma" "SCI" @@ -174067,9 +174061,9 @@ "Urinary bladder" "Urinary System, Bladder" "blood serum protein MTSS 2 amount" - "blood sushi, nidogen and EGF-like domain-containing protein 1 amount" "muscle mass measurement" "muscle mass" + "blood sushi, nidogen and EGF-like domain-containing protein 1 amount" "mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency" "GM17255 cell" "larval protruding-mouth stage" @@ -174220,35 +174214,35 @@ "benign neoplasm of the synovium" "benign tumor of synovium" "benign tumour of the synovium" + "Anti-Synthetase Syndrome" + "antisynthetase syndrome" + "Anti-Jo1 syndrome" + "anti-Jo1 syndrome" + "AS syndrome" "immunodeficiency 106, susceptibility to viral infections" "IFNAR1 deficiency" "IMD106" "three spined stickleback" "three-spined stickleback" "Gasterosteus aculeatus Linnaeus, 1758" - "Anti-Synthetase Syndrome" - "antisynthetase syndrome" - "Anti-Jo1 syndrome" - "anti-Jo1 syndrome" - "AS syndrome" + "TAG 56:2" "partial duplication/triplication of chromosome 18" "partial trisomy/tetrasomy of chromosome type 18" - "TAG 56:2" "5-HTT brain serotonin transporter levels" + "blood serum interleukin-1 family member 5 amount" "penis sarcoma" "sarcoma of the penis" "penile sarcoma" "sarcoma of penis" - "blood serum interleukin-1 family member 5 amount" "splenic abscess (disease)" "splenic abscess" "blood serum histone deacetylase complex subunit SAP18 amount" "blood serum beta-defensin 106 amount" - "blood serine/threonine-protein kinase LATS1 amount" "pediatric central nervous system immature teratoma" "paediatric central nervous system immature teratoma" "childhood central nervous system immature teratoma" "central nervous system immature teratoma of childhood" + "blood serine/threonine-protein kinase LATS1 amount" "Montelukast" "MONTELUKAST" "{1-[({(1R)-1-{3-[(E)-2-(7-chloroquinolin-2-yl)ethenyl]phenyl}-3-[2-(2-hydroxypropan-2-yl)phenyl]propyl}sulfanyl)methyl]cyclopropyl}acetic acid" @@ -174568,6 +174562,7 @@ "granular cell neoplasm of the heart" "granular cell tumor of heart" "granular cell tumour of the heart" + "blood serum ornithine transcarbamylase, mitochondrial amount" "distal hereditary motor neuropathy type 6" "diaphragmatic spinal muscular atrophy" "dSMA1" @@ -174585,7 +174580,6 @@ "SMARD1" "autosomal recessive distal spinal muscular atrophy 1" "spinal muscular atrophy, distal, autosomal recessive, type 1" - "blood serum ornithine transcarbamylase, mitochondrial amount" "blood MHC class II histocompatibility antigen alpha chain DRA amount" "leiomyosarcoma of the uterine body" "leiomyosarcoma of the uterine corpus" @@ -174690,6 +174684,7 @@ "Syndromatic diarrhea" "SD/THE" "Cryptophthalmos-syndactyly syndrome" + "Toriello syndrome" "smoldering plasma cell myeloma" "smouldering multiple myeloma" "asymptomatic myeloma" @@ -174699,7 +174694,6 @@ "smouldering Multiple myeloma/plasma cell myeloma" "smouldering myeloma" "asymptomatic plasma cell myeloma" - "Toriello syndrome" "Lassa fever" "LF" "Lassa Fever" @@ -174819,11 +174813,11 @@ "mammalian vulva eccrine carcinoma" "vulvar eccrine adenocarcinoma" "eccrine carcinoma of mammalian vulva" - "protein adhesion measurement" "Oxyhemoglobin/Total Hemoglobin" "HBOXHGB" "blood serum interleukin-28 receptor alpha chain amount" "Granular corneal dystrophy type II" + "protein adhesion measurement" "junctional epidermolysis bullosa" "epidermolysis bullosa atrophicans" "JEB" @@ -174837,19 +174831,13 @@ "biosource type" "phosphatidylcholine O-36:5" "blood serum protein PALS2 amount" - "blood serum protein ATP1B4 amount" "gastrulating embryo" + "blood serum protein ATP1B4 amount" "partial deletion of chromosome type 9" "partial monosomy of chromosome 9" "cystic, mucinous, and serous neoplasm" "blood a disintegrin and metalloproteinase with thrombospondin motifs 8 amount" "FGF23 measurement" - "spindle cell melanoma of the uvea" - "spindle cell uveal melanoma" - "uveal spindle cell melanoma" - "spindle cell melanoma of uvea" - "corneal dystrophy, endothelial, X-linked, X-linked dominant" - "XECD" "Vivax Malaria" "Plasmodium vivax malaria" "vivax malaria" @@ -174858,6 +174846,12 @@ "malaria by Plasmodium vivax" "Malaria, Vivax" "Vivax malaria [benign tertian]" + "spindle cell melanoma of the uvea" + "spindle cell uveal melanoma" + "uveal spindle cell melanoma" + "spindle cell melanoma of uvea" + "corneal dystrophy, endothelial, X-linked, X-linked dominant" + "XECD" "blood serum ezrin amount" "blood serum glycolipid transfer protein domain-containing protein 2 amount" "incomplete bilateral aplasia of the Müllerian ducts" @@ -175007,22 +175001,22 @@ "blood serum dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial amount" "age disease symptoms begin" "age at onset of disease" + "blood serum ankyrin repeat domain-containing protein 1 amount" "chondroma of soft parts" "extraskeletal chondroma" "soft tissue chondroma" "extraskeletal osteochondroma" - "blood serum ankyrin repeat domain-containing protein 1 amount" "EDS, vascular-like type" "clinical_treatment" "clinical treatment" + "FEV1" + "FEVt" + "timed vital capacity" "gastric cardia" "cardial part of stomach" "stomach cardiac region" "pars cardiaca gastricae" "pars cardiaca (gaster)" - "FEV1" - "FEVt" - "timed vital capacity" "soft tissue amyloid tumor" "soft tissue amyloid tumour" "amyloid neoplasm" @@ -175115,11 +175109,11 @@ "Oreochromis nilonica" "Tilapia nilotica" "Nile tilapia" + "blood serum single-pass membrane and coiled-coil domain-containing protein 1 amount" "post-mortem" "deceased" "Cardiac Death" "Death" - "blood serum single-pass membrane and coiled-coil domain-containing protein 1 amount" "Absent sperm in semen" "14(15)-epoxyeicosatrienoic acid " "SPENCDI" @@ -175186,8 +175180,8 @@ "Graham Little syndrome" "congenital fibrinogen deficiency" "Mackay-Shek-Carr syndrome" - "septic myocarditis" "Kenny syndrome" + "septic myocarditis" "azoospermia, obstructive, with nephrolithiasis, X-linked recessive" "OAZON" "asbestos-related lung cancer" @@ -175250,8 +175244,8 @@ "blood serum retrotransposon Gag-like protein 6 amount" "GM14568 cell" "central giant cell reparative granuloma of jaw" - "GCLSB" "GCLSB" + "GCLSB" "giant cell reparative granuloma" "giant cell lesion of small bones" "central giant cell (reparative) granuloma" @@ -175393,7 +175387,6 @@ "LAPC9" "HCC-15" "inherited cardiac arrthythmia" - "Braddock-Carey syndrome" "fracture-related traits" "congenital bile acid synthesis defect type 5" "bile acid synthesis defect, congenital, type 5" @@ -175402,6 +175395,7 @@ "CBAS5" "ABCD3 congenital bile acid synthesis defect" "GM17256 cell" + "Braddock-Carey syndrome" "blood lysosomal acid glucosylceramidase amount" "blood serum Jun dimerization protein 2 amount" "blood serum apolipoprotein L2 amount" @@ -175753,8 +175747,8 @@ "blood serum immunoglobulin lambda-like polypeptide 1 amount" "undifferentiated (embryonal) sarcoma" "embryonal sarcoma (undifferentiated sarcoma)" - "UES" "UES" + "UES" "sarcoma, undifferentiated, malignant" "embryonal sarcoma, undifferentiated" "embryonal sarcoma" @@ -175802,6 +175796,9 @@ "blood probable ATP-dependent RNA helicase DDX4 amount" "blood serum aldehyde dehydrogenase X, mitochondrial amount" "Hip dysplasia - enchondromata - ecchondroma" + "Progressive supranuclear palsy - apraxia of speech" + "PSP-PNFA" + "PSP-AOS" "SLO syndrome" "SLOS" "7-dehydrocholesterol reductase deficiency" @@ -175817,9 +175814,6 @@ "jejunum adenocarcinoma" "jejunal adenocarcinoma" "jejunal adenocarcinoma (disease)" - "Progressive supranuclear palsy - apraxia of speech" - "PSP-PNFA" - "PSP-AOS" "Elevated ESR" "Raised erythrocyte sedimentation rate" "Elevated sedimentation rate" @@ -175902,12 +175896,12 @@ "Legg Calvé Perthes Disease" "Legg-Calve-Perthes syndrome" "Legg-Calve-Perthes symptom" - "BE2C" "BE2_C" "BE(2)-C cell" "BE(2)_C" "BE2-C" "BE(2) C" + "BE2C" "Triticum turgidum var. dicoccoides" "Triticum turgidum subsp. dicoccoides" "wild emmer wheat" @@ -176100,11 +176094,11 @@ "blood serum methylated-DNA--protein-cysteine methyltransferase amount" "atypical HCS" "Medrano-Roldan syndrome" + "Capsularis" + "Ristella" "leiomyosarcoma of mammalian vulva" "vulvar leiomyosarcoma" "mammalian vulva leiomyosarcoma" - "Capsularis" - "Ristella" "blood serum DNA-binding protein SATB1 amount" "Extreme sensitivity of the eyes to light" "Photodysphoria" @@ -176425,21 +176419,21 @@ "leiomyoma of rectum" "Petty-Laxova-Wiedemann syndrome" "blood serum RISC-loading complex subunit TARBP2 amount" - "Pear-shaped vertebral bodies" "VMCM" "Cutaneous and mucosal venous malformation" + "Pear-shaped vertebral bodies" "GM14569 cell" "Escherichia coli B (REL606 strain)" "Escherichia coli B str. Bc251" "Escherichia coli B strain REL606" "Escherichia coli str. B substr. REL606" + "blood serum xylosyltransferase 2 amount" "chromosome 17q11.2 duplication syndrome, 1.4-mb" "trisomy 17q11.2" "dup(17)(q11.2)" "Grisart-Destree syndrome" "Nf1 Microduplication Syndrome" "Grisart-Destrée syndrome" - "blood serum xylosyltransferase 2 amount" "Pitt syndrome" "Wolf-Hirschhorn syndrome" "Wittwer syndrome" @@ -176457,11 +176451,11 @@ "Pinheiro-Freire Maia-Miranda syndrome" "blood N(1),N(12)-diacetylspermine amount" "blood serum matrix metalloproteinase-20 amount" + "Vacuolar myopathy" + "XMEA" "hereditary polycythemia (disease)" "erythrocytosis, familial" "familial polycythemia" - "Vacuolar myopathy" - "XMEA" "benign tumour of the salivary gland" "salivary gland neoplasm, benign" "benign salivary gland tumour" @@ -177023,9 +177017,9 @@ "cardiomyopathy, familial hypertrophic, type 12" "hypertrophic cardiomyopathy caused by mutation in CSRP3" "cardiomyopathy familial hypertrophic 12" - "macrophage activation syndrome" "reactive hemophagocytic lymphohistiocytosis" "MAS" + "macrophage activation syndrome" "von Willebrand disease, type 2M" "TH deficiency" "tyrosine hydroxylase deficiency" @@ -177037,10 +177031,10 @@ "DC.103-11b+.Lv" "relaxation of vascular smooth muscle" "vascular smooth muscle relaxation" - "blood serum slit homolog 1 protein amount" "Tibia vara Blount" "Osteochondrosis deformans tibiae" "Infantile tibia vara" + "blood serum slit homolog 1 protein amount" "TNDM" "transient neonatal diabetes mellitus (disease)" "transient neonatal diabetes mellitus" @@ -177140,8 +177134,8 @@ "malignant tumor of the CNS" "central nervous system cancer" "malignant neoplasm of central nervous system" - "KYN" "Hereditary thrombophilia due to congenital antithrombin 3 deficiency" + "KYN" "preaxial polydactyly of hand" "Tolosa Hunt Syndrome" "Tolosa-Hunt syndrome" @@ -177647,10 +177641,6 @@ "partial deletion of chromosome type 11" "Coarse hair" "Coarse hair texture" - "villous adenoma of the appendix" - "vermiform appendix villous adenoma" - "appendix villous adenoma" - "villous adenoma of appendix" "antepartum oligohydramnios" "oligohydramnios (disease)" "oligohydramnios" @@ -177673,6 +177663,10 @@ "cancer of uterus" "cancer of the uterus" "malignant uterine tumour" + "villous adenoma of the appendix" + "vermiform appendix villous adenoma" + "appendix villous adenoma" + "villous adenoma of appendix" "ug/ml" "blood ADAMTS-like protein 5 amount" "2-deoxy-2-{[methyl(nitroso)carbamoyl]amino}-alpha-D-glucopyranose" @@ -178018,8 +178012,8 @@ "tumor of major vestibular gland" "Bartholin gland neoplasm" "tumour of major vestibular gland" - "major vestibular gland tumor" "tumour of Bartholin's gland" + "major vestibular gland tumor" "major vestibular gland neoplasm (disease)" "Bartholin's gland tumor" "tumour of the Bartholin's gland" @@ -178225,6 +178219,9 @@ "HMSN, Lom type" "Hereditary motor and sensory neuropathy, Lom type" "CMT4D" + "serum creatinine levels" + "creatinine levels" + "serum creatinine measurement" "autosomal dominant Charcot-Marie-Tooth disease type 2U" "Charcot-Marie-Tooth disease type 2 caused by mutation in MARS" "autosomal dominant axonal Charcot-Marie-Tooth disease type 2U" @@ -178232,9 +178229,6 @@ "Charcot-Marie-Tooth neuropathy type 2U" "CMT2U" "MARS Charcot-Marie-Tooth disease type 2" - "serum creatinine levels" - "creatinine levels" - "serum creatinine measurement" "DS-AMKL" "blood aminopeptidase N amount" "blood glutamate--cysteine ligase regulatory subunit amount" @@ -178518,14 +178512,14 @@ "hydrogen 2-hydroxypentanedioate" "diabetes mellitus, insulin-dependent, neonatal" "pancreatic beta cell agenesis with neonatal diabetes mellitus" + "Maxillary Sinusitis" + "maxillary sinusitis" "atypical lobular hyperplasia of the breast" "atypical lobular breast hyperplasia" - "ALH" "atypical lobular hyperplasia of breast" + "ALH" "atypical lobular hyperplasia" "atypical breast lobular hyperplasia" - "Maxillary Sinusitis" - "maxillary sinusitis" "epithelium transitionale" "uroepithelium" "transitional epithelium" @@ -178646,6 +178640,9 @@ "Helicobacter Infections" "Helicobacter Pylori Infection" "Helicobacter pylori infectious disease" + "kidney inflammation" + "nephritis" + "inflammation of kidney" "focal epilepsy-intellectual disability-dysarthria-ataxia syndrome" "Sphingomonas wittichii strain RW1" "Sphingomonas wittichii DSM 6014" @@ -178653,9 +178650,6 @@ "Sphingomonas sp. RW1" "Degos genodermatosis \"en cocardes\"" "Degos genodermatosis" - "kidney inflammation" - "nephritis" - "inflammation of kidney" "dSMA4" "autosomal recessive distal spinal muscular atrophy type 4" "distal spinal muscular atrophy type 4" @@ -178759,9 +178753,9 @@ "cystadenofibroma of fallopian tube" "Kif-5" "response to immunosuppressive agent" - "blood serum Phosphatidylinositol (18:1_18:2) amount" "MC4DN14" "mitochondrial complex IV deficiency, nuclear type 14" + "blood serum Phosphatidylinositol (18:1_18:2) amount" "blood serum UPF0696 protein C11orf68 amount" "nose" "chemosensory sensory organ" @@ -179261,12 +179255,12 @@ "statoacoustic ganglion" "statoacoustic (VIII) ganglion" "auditory ganglion" + "acrorenal syndrome" "ovarian Wilms' tumor" "ovarian Wilms tumor" "ovarian Wilms' tumour" "ovary Wilms tumor" "ovary Wilms tumour" - "acrorenal syndrome" "Iran (Islamic Republic of)"@en "Iran (Islamic Republic of)" "chromosome Xq28 duplication syndrome" @@ -179345,8 +179339,6 @@ "cellular secretion" "PEPCK1 deficiency" "blood YTH domain-containing family protein 3 amount" - "soluble P-selectin level" - "sP-selectin" "glutamate pyruvate transaminase 2 deficiency" "mental retardation, autosomal recessive type 49" "MRT49" @@ -179355,6 +179347,8 @@ "postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome" "GPT2 deficiency" "mental retardation, autosomal recessive 49" + "soluble P-selectin level" + "sP-selectin" "blood tyrosine-protein kinase receptor UFO amount" "blood FAD-linked sulfhydryl oxidase ALR amount" "SSPCS" @@ -179532,16 +179526,16 @@ "Pectus excavatum/carinatum" "Pectus deformity" "Pectus deformities" - "hypercortisolemia" - "adrenocortical hyperfunction" - "Adrenocortical Hyperfunction" - "hypercortisolism" + "disorder of corticoadrenal overactivity" "hyperadrenalism" + "hypercortisolism" + "adrenocortical hyperfunction" "adrenal gland hyperfunction" + "hypercortisolemia" + "hypercortisolism (disorder)" "Overproduction of cortisol" + "Adrenocortical Hyperfunction" "Adrenocortical hyperfunction" - "hypercortisolism (disorder)" - "disorder of corticoadrenal overactivity" "urethral leiomyoma" "urethra leiomyoma" "leiomyoma of the urethra" @@ -180180,8 +180174,8 @@ "TAG 58:8" "stage 0 cardia of stomach carcinoma" "cardia of stomach carcinoma in situ" - "stage 0 gastric cardia carcinoma" "gastric cardia carcinoma in situ" + "stage 0 gastric cardia carcinoma" "carcinoma in situ of the gastric cardia" "carcinoma in situ of cardia of stomach" "gastric cardia carcinoma in situ aJCC v6 and v7" @@ -180299,8 +180293,8 @@ "carcinoma with t(15;19)(q13;p13.1) translocation" "Midline carcinoma of children and Young adults with NUT rearrangement" "nuclear protein in testis midline carcinoma" - "NMC" "NMC" + "NMC" "NUT carcinoma" "NUT Midline carcinoma" "herpes zoster ophthalmicus" @@ -181031,9 +181025,9 @@ "mesoblastic nephroma (morphologic abnormality)" "Mesoblastic nephroma (morphologic abnormality)" "chromosome 17P13.3, telomeric, duplication syndrome" + "blood alpha-1-acid glycoprotein 1 amount" "Hemoglobin E/Total Hemoglobin" "HGBEHGB" - "blood alpha-1-acid glycoprotein 1 amount" "California mussel" "Abnormality of the abdominal wall" "Abnormality of external features of the abdomen" @@ -181043,14 +181037,14 @@ "choreatic disease" "choreia" "benign familial chorea" - "cardiac tamponade" - "pericardial tamponade" - "rose's tamponade" "undifferentiated esophageal carcinoma" "oesophagus undifferentiated carcinoma" "esophagus undifferentiated carcinoma" "undifferentiated esophageal cancer" "esophageal undifferentiated carcinoma" + "cardiac tamponade" + "pericardial tamponade" + "rose's tamponade" "cystinosis" "cystine storage disease" "Protein defect of cystin transport" @@ -181229,8 +181223,8 @@ "calcium pyrophosphate deposition disease" "composite lymphoma" "composite Hodgkin and non-Hodgkin lymphoma" - "idiopathic aplastic anemia" "blood serum endogenous retrovirus group V member 1 Env polyprotein amount" + "idiopathic aplastic anemia" "GM15324 cell" "anatomical wall of stomach" "ventriculus wall" @@ -181349,11 +181343,11 @@ "ARMD11" "TKT deficiency" "short stature-developmental delay-congenital heart defect syndrome" - "TAG 58:9" "MRD72" "autosomal dominant intellectual developmental disorder-72" "SRRM2-related neurodevelopmental disorder" "developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome" + "TAG 58:9" "dengue virus, susceptibility to" "4-hydroxy-3-methoxybenzoate" "vanillate" @@ -181474,8 +181468,8 @@ "blood small ribosomal subunit protein bS16m amount" "knee" "follicular variant thyroid gland papillary carcinoma" - "FVPTC" "FVPTC" + "FVPTC" "PEX6 related Zellweger spectrum disorder" "peroxisome biogenesis disorder due to PEX6 defect" "valvular heart disorder" @@ -181688,8 +181682,8 @@ "oral cavity submucous fibrosis" "oral submucous fibrosis" "oral submucosal fibrosis, including of tongue" - "OSMF" "OSMF" + "OSMF" "Lipodystrophy - Rieger anomaly - diabetes" "Rieger anomaly - partial lipodystrophy" "Aarskog-Ose-Pande syndrome" @@ -181789,11 +181783,11 @@ "METHANOL" "Methanol" "methanol" + "Anatomical Therapeutic Chemical Classification System" "BDPLT19" "PRKACG isolated hereditary giant platelet disorder" "severe autosomal recessive macrothrombocytopenia" "isolated hereditary giant platelet disorder caused by mutation in PRKACG" - "Anatomical Therapeutic Chemical Classification System" "melanocytic tumor of the central nervous system" "melanocytic tumor of central nervous system" "melanocytic neoplasm of CNS" @@ -181809,9 +181803,9 @@ "melanocytic tumour of CNS" "central nervous system melanocytic tumor" "melanocytic tumour of the central nervous system" - "melanocytic tumour of the CNS" "central nervous system melanocytic tumour" "CNS melanocytic tumour" + "melanocytic tumour of the CNS" "melanocytic tumour of central nervous system" "GRO:0005361" "neoplasm of the orbit" @@ -181827,8 +181821,8 @@ "orbital tumor" "orbit tumor" "neoplasm of orbit" - "tumour of orbit of skull" "orbital neoplasms" + "tumour of orbit of skull" "tumour of orbit" "tumour of the orbit" "orbit tumour" @@ -182250,9 +182244,6 @@ "autosomal recessive infantile hypercalcemia caused by mutation in SLC34A1" "classic 21-OHD CAH, salt wasting form" "Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome" - "Partial trisomy of chromosome 9p" - "Partial duplication of the short arm of chromosome 9" - "Partial duplication of chromosome 9p" "malignant neoplasm of the small intestine" "malignant neoplasm of small bowel" "malignant small bowel tumour" @@ -182274,6 +182265,9 @@ "malignant tumour of the small intestine" "malignant small intestine neoplasm" "malignant tumour of small bowel" + "Partial trisomy of chromosome 9p" + "Partial duplication of the short arm of chromosome 9" + "Partial duplication of chromosome 9p" "constitutional rare deficiency anaemia" "constitutional rare deficiency anemia" "carcinoid tumour of ileum" @@ -182504,14 +182498,14 @@ "agenesis of corpus callosum, cardiac, ocular, and genital syndrome" "AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME" "ACOGS" - "ischemic disease of retina" - "retina ischaemic disease" - "ischaemic disease of retina" - "retina ischemic disease" "pituitary gland apoplexy" "pituitary apoplexy" "Pituitary Apoplexy" "Pituitary apoplexy (disorder)" + "ischemic disease of retina" + "retina ischaemic disease" + "ischaemic disease of retina" + "retina ischemic disease" "trophoblast layer" "blood cadherin-related family member 2 amount" "Werdnig-Hoffmann Disease" @@ -182623,11 +182617,11 @@ "8-methoxy-6-nitro-2H-phenanthro[3,4-d][1,3]dioxole-5-carboxylic acid" "blood serum retina-specific copper amine oxidase amount" "Ladda-Zonana-Ramer syndrome" + "vascular brain injury" "C-beta-thalassemia" "HBC-beta-thalassemia syndrome" "Zaire Ebola virus" "ZEBOV" - "vascular brain injury" "combined defect in adenosylcobalamin and methylcobalamin synthesis" "methylmalonic aciduria with homocystinuria" "Gerlach's tubal tonsil" @@ -182764,11 +182758,11 @@ "infection of cornea" "corneal infection" "infective keratitis" - "blood growth arrest and DNA damage-inducible protein GADD45 beta amount" - "autosomal recessive nonsyndromic hearing loss 9" "Spinal muscular atrophy, adult form" "SMA4" "SMA-IV" + "blood growth arrest and DNA damage-inducible protein GADD45 beta amount" + "autosomal recessive nonsyndromic hearing loss 9" "tumor of PNS" "peripheral nervous system neoplasm" "Peripheral Nervous System Benign Neoplasms" @@ -182804,8 +182798,8 @@ "PERIPHERAL NERVE NEOPL MALIGNANT" "Peripheral Nerve Neoplastic Infiltration" "Nerve Neoplasms, Peripheral" - "tumour of the peripheral nerve" "Peripheral Nerve Neoplasms, Malignant" + "tumour of the peripheral nerve" "neoplasm of the PNS" "tumor of peripheral nervous system" "PNS neoplasms" @@ -182904,8 +182898,8 @@ "Alveolar proteinosis" "blood serum Golgi SNAP receptor complex member 1 amount" "46,XY DSD due to testicular steroidogenesis defect" - "mucopolysaccharide metabolism" "CMTX" + "mucopolysaccharide metabolism" "basaloid carcinoma" "hereditary prekallikrein deficiency" "fletcher factor (prekallikrein) deficiency" @@ -182961,7 +182955,6 @@ "Aarskog-Scott syndrome, X-linked" "SPGF72" "spermatogenic failure 72" - "renal pelvis and ureter transitional cell carcinoma" "transitional cell cancer of the renal pelvis and ureter" "renal pelvis and ureter urothelial carcinoma" "TCC of the renal pelvis and ureter" @@ -182971,6 +182964,7 @@ "transitional cell carcinoma of renal pelvis and ureter" "transitional cell cancer of renal pelvis and ureter" "urothelial carcinoma of the renal pelvis and ureter" + "renal pelvis and ureter transitional cell carcinoma" "blood neuroblast differentiation-associated protein AHNAK amount" "split hand-foot malformation type 4" "split hand-foot malformation caused by mutation in TP63" @@ -183194,15 +183188,15 @@ "blood serum leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 3 amount" "Halal syndrome" "blood serum pregnancy zone protein amount" + "myopathy, tubular aggregate, 2" + "tubular aggregate myopathy caused by mutation in ORAI1" + "myopathy, tubular aggregate, type 2" + "ORAI1 tubular aggregate myopathy" "arthritides" "skeletal joint inflammation" "inflammation of skeletal joint" "arthritis" "arthritic joint disease" - "myopathy, tubular aggregate, 2" - "tubular aggregate myopathy caused by mutation in ORAI1" - "myopathy, tubular aggregate, type 2" - "ORAI1 tubular aggregate myopathy" "2,3-bis(acyloxy)propyl 2-(trimethylammonio)ethyl phosphate" "HPV-related penile squamous cell carcinoma" "human papillomavirus-related penile squamous cell carcinoma" @@ -183266,8 +183260,8 @@ "Congenital disorder of glycosylation type 1b" "Congenital disorder of glycosylation type Ib" "1-(2,4-dichlorobenzyl)-1H-indazole-3-carboxylic acid" - "Guanine" "guanine" + "Guanine" "GUANINE" "2-amino-1,9-dihydro-6H-purin-6-one" "CDG with nephropathy as a major feature" @@ -183390,16 +183384,16 @@ "carcinoma of the eyelid" "HIBM4" "blood serum procollagen galactosyltransferase 1 amount" + "Christian-Rosenberg syndrome" "ALT" "ALT" "well-differentiated liposarcoma" "well differentiated liposarcoma of deep soft tissue" - "WDLS" "WDLS" + "WDLS" "well differentiated liposarcoma" "atypical lipoma" "atypical lipomatous tumor" - "Christian-Rosenberg syndrome" "neurocranial trabeculae" "trabecula" "trabecular cartilage" @@ -183703,14 +183697,14 @@ "testicular granulosa cell tumor" "testis granulosa cell tumour" "blood serum protein phosphatase methylesterase 1 amount" - "CTCL" "CTCL" + "CTCL" "primary cutaneous T-cell non-Hodgkin lymphoma" "T-cell non-Hodgkin's lymphoma of the skin" "cutaneous T-cell non-Hodgkin lymphoma" "cutaneous T cell lymphoma" - "PCTCL" "PCTCL" + "PCTCL" "T-cell non-Hodgkin's lymphoma of skin" "cutaneous T-cell non-Hodgkin's lymphoma" "cutaneous T-cell lymphoma" @@ -183752,8 +183746,8 @@ "angioimmunoblastic T-cell lymphoma" "angioimmunoblastic lymphadenopathy type T-cell lymphoma" "immunoblastic lymphadenopathy" - "AILT" "AILT" + "AILT" "neck neuroblastoma" "neuroblastoma of neck" "Reduced representation M.SssI methylase-assisted bisulfite sequencing" @@ -183872,13 +183866,13 @@ "nodular sclerosis Hodgkin lymphoma" "nodular sclerosis Hodgkin's lymphoma" "nodular sclerosis Classic Hodgkin lymphoma" - "NSHD" "NSHD" + "NSHD" "Hodgkin's nodular sclerosis" "nodular sclerosis classical Hodgkin lymphoma" "classical Hodgkin lymphoma, nodular sclerosis" - "NSHL" "NSHL" + "NSHL" "Hodgkin's disease nodular sclerosis" "Hodgkin's disease, nodular sclerosis of unspecified site" "nodular sclerosis Hodgkin's disease" @@ -183946,6 +183940,7 @@ "mitral atresia" "blood fibrinogen alpha chain amount" "SPG35" + "SPG8" "catecholaminergic polymorphic ventricular tachycardia type 1" "ARVD2" "RYR2 familial isolated arrhythmogenic right ventricular dysplasia" @@ -183959,7 +183954,6 @@ "arrhythmogenic right ventricular dysplasia 2" "arrhythmogenic right ventricular dysplasia type 2" "ARVC2" - "SPG8" "familial osteonecrosis of the femoral head" "aseptic Necrosis of head of femur" "aseptic Necrosis of femoral head" @@ -184193,8 +184187,8 @@ "FSH dystrophy" "Facioscapulohumeral myopathy" "dysembryoplastic neuroepithelial tumor" - "DNET" "DNET" + "DNET" "dysembryoplastic neuroepithelial tumour (morphologic abnormality)" "DNT" "DNT" @@ -184381,8 +184375,8 @@ "gallbladder adenoma" "blood cell cycle exit and neuronal differentiation protein 1 amount" "blood serum calcium-binding protein 8 amount" - "(2R)-2-{[(9Z,12Z)-octadeca-9,12-dienoyl]oxy}-3-(tetradecanoyloxy)propyl 2-(trimethylazaniumyl)ethyl phosphate" "blood Ras-related protein R-Ras amount" + "(2R)-2-{[(9Z,12Z)-octadeca-9,12-dienoyl]oxy}-3-(tetradecanoyloxy)propyl 2-(trimethylazaniumyl)ethyl phosphate" "blood protein PAXX amount" "10X 5' v3" "mouse embryonic stage" @@ -184865,19 +184859,19 @@ 92.1 "leukemoid reaction" "AxD type II" - "Mucoid otitis media" - "serous otitis Media" "secretory otitis Media" + "Otitis media with effusion" + "Mucoid otitis media" "OME" "Otitis media, transudative" - "Glue ear" + "serous otitis Media" "otitis media with effusion" + "Transudative otitis media" "Secretory Otitis Media" - "Otitis media with effusion - mucoid" "Otitis Media with Effusion" - "Transudative otitis media" - "Otitis media with effusion" + "Glue ear" "Mucoid otitis media NOS (disorder)" + "Otitis media with effusion - mucoid" "young adult-onset distal hereditary motor neuropathy" "Young adult-onset dHMN" "dSMA5" @@ -185329,11 +185323,11 @@ "Thyroiditis, Suppurative" "Infectious thyroiditis (disorder)" "acute suppurative thyroiditis (disorder)" + "Trisomy 2q31.1" + "Dup(2)(q31.1)" "PCH" "Pontoneocerebellar atrophy" "Pontoneocerebllar hypoplasia" - "Trisomy 2q31.1" - "Dup(2)(q31.1)" "Monosomy 17q12" "Del(17)(q12)" "body mass index QTL16" @@ -185479,11 +185473,11 @@ "LQT7" "Andersen cardiodysrhythmic periodic paralysis" "Andersen-Tawil syndrome" + "Decreased reflexes" + "Decreased reflex response" "NSIAD" "nephrogenic syndrome of inappropriate antidiuresis, X-linked recessive" "nephrogenic syndrome of inappropriate antidiuresis" - "Decreased reflexes" - "Decreased reflex response" "Lack of bladder control due to nervous system injury" "molluscum contagiosum" "Molluscum Contagiosum" @@ -185988,11 +185982,11 @@ "blood CD14 molecule amount" "Coronary Stenosis" "Coronary artery stenosis (disorder)" + "BCL11B-related BAFopathy" + "intellectual developmental disorder with dysmorphic facies, speech delay, and t-cell abnormalities" "blood platelet aggregation" "intracellular region of host" "host intracellular" - "BCL11B-related BAFopathy" - "intellectual developmental disorder with dysmorphic facies, speech delay, and t-cell abnormalities" "nasal cavity and paranasal sinus carcinoma" "nasal cavity and paranasal sinus cancer" "sinonasal carcinoma" @@ -186088,8 +186082,8 @@ "chronic atrial dysrhythmia-intestinal motility disorder" "chronic atrial and intestinal dysrhythmia" "caid syndrome" - "TCM type" "7-chloro-4-hydroxyquinoline-2-carboxylic acid" + "TCM type" "blood eukaryotic translation initiation factor 2 subunit 2 amount" "blood serum SLIT-ROBO Rho GTPase-activating protein 2 amount" "blood serum Max-like protein X amount" @@ -186289,9 +186283,9 @@ "blood serum UL-16 binding protein 5 amount" "Acrocephalopolysyndactyly type 2" "ACPS 2" - "Citrulline high in urine" "Femoral Neck Fractures" "fracture of neck of femur" + "Citrulline high in urine" "spermatogenic failure 66" "SPGF66" "glutaric acidemia type 2" @@ -186416,12 +186410,12 @@ "carcinoma of nipple" "benign carotid body paraganglioma" "carotid body paraganglioma, benign" - "Granuloma Inguinale" - "Pudendal ulcer" + "donovanosis" "(Granuloma inguinale) or (donovanosis) or (pudendal ulcer)" "granuloma inguinale" - "donovanosis" "pudendal ulcer" + "Granuloma Inguinale" + "Pudendal ulcer" "Granuloma inguinale (disorder)" "HbA levels" "hemoglobin A measurement" @@ -186460,8 +186454,8 @@ "malignant eccrine sweat gland neoplasm" "malignant eccrine tumour of the skin" "malignant eccrine tumor" - "malignant eccrine neoplasm" "malignant eccrine skin tumor" + "malignant eccrine neoplasm" "NK cell" "ageing" "blood serum ubiquitin carboxyl-terminal hydrolase 15 amount" @@ -186656,15 +186650,15 @@ "Vancomycin" "(3S,6R,7R,11R,23S,26S,30aS,36R,38aR)-44-[2-O-(3-amino-2,3,6-trideoxy-3-C-methyl-alpha-L-lyxo-hexopyranosyl)-beta-D-glucopyranosyloxy]-3-(carbamoylmethyl)-10,19-dichloro-2,3,4,5,6,7,23,25,26,36,37,38,38a-tetradecahydro-7,22,28,30,32-pentahydroxy-6-(N-methyl-D-leucyl)-2,5,24,38,39-pentaoxo-1H,22H-23,36-(epiminomethano)-8,11:18,21-dietheno-13,16:31,35-di(metheno)[1,6,9]oxadiazacyclohexadecino[4,5-m][10,2,16]benzoxadiazacyclotetracosine-26-carboxylic acid" "blood serum activating signal cointegrator 1 complex subunit 2 amount" + "disease of internal ear" + "inner ear disorder" + "inner Ear disorder" "internal Ear disorder" + "labyrinthine disease" "disorder of internal ear" + "disease or disorder of internal ear" "internal ear disease or disorder" - "inner Ear disorder" "internal ear disease" - "disease or disorder of internal ear" - "labyrinthine disease" - "disease of internal ear" - "inner ear disorder" "benign neoplasm of muscle" "benign muscle neoplasm" "benign muscle tumour" @@ -186743,8 +186737,8 @@ "carcinoma of the kidney collecting duct" "carcinoma of collecting duct of renal tubule" "renal collecting duct carcinoma" - "BDC" "BDC" + "BDC" "Bellini carcinoma" "collecting duct of renal tubule carcinoma" "kidney collecting duct carcinoma" @@ -186862,11 +186856,11 @@ "blood serum mediator of RNA polymerase II transcription subunit 20 amount" "auriculo-condylar syndrome" "question mark ear syndrome" + "PEX16 related Zellweger spectrum disorder" + "peroxisome biogenesis disorder due to PEX16 defect" "adenocarcinoma arising in Barrett's mucosa" "Barrett adenocarcinoma" "Barrett's adenocarcinoma" - "PEX16 related Zellweger spectrum disorder" - "peroxisome biogenesis disorder due to PEX16 defect" "RAD51 Fanconi anemia" "Fanconi anaemia complementation group type R" "Fanconi Anemia, complementation group type R" @@ -187009,10 +187003,10 @@ "Th9" "T(H)-9 cell" "T helper cells type 9" + "blood serum derlin-1 amount" "vitamin A deficiency (disease)" "vitamin A deficiency" "Vitamin A Deficiency" - "blood serum derlin-1 amount" "CAL-51" "blood serum ELAV-like protein 2 amount" "cardiac rhabdomyoma (disease)" @@ -187376,10 +187370,10 @@ "portion of blood plasma" "blood plasm" "blood N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 amount" - "TAG 50:3" "typhasterol" "(3alpha,5alpha,22R,23R,24S)-3,22,23-trihydroxyergostan-6-one" "SM 22:1" + "TAG 50:3" "GM17107 cell" "uterine smooth muscle" "Human Herpes Virus 8 Infection" @@ -187405,8 +187399,8 @@ "Structural renal anomalies" "Abnormally shaped kidney" "malignant neoplasm of uterine endocervix" - "malignant uterine endocervix tumor" "malignant tumor of the endocervix" + "malignant uterine endocervix tumor" "malignant uterine endocervix neoplasm" "malignant endocervical neoplasm" "malignant endocervical tumour" @@ -187663,6 +187657,7 @@ "spinocerebellar ataxia, autosomal recessive type 12" "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in WWOX" "autosomal recessive spinocerebellar ataxia 12" + "snRNA-seq" "Prosthesis, Cardiac Valve" "Heart Valve Prosthesis Implantation" "Prostheses, Cardiac Valve" @@ -187676,7 +187671,6 @@ "Implantation, Heart Valve Prosthesis" "Heart Valve Prostheses" "Valve Prostheses, Cardiac" - "snRNA-seq" "GDAP1 Charcot-Marie-Tooth disease type 4" "Charcot-Marie-Tooth neuropathy type 4A" "Charcot-Marie-Tooth disease type 4 caused by mutation in GDAP1" @@ -187888,14 +187882,14 @@ "Yersinia pseudotuberculosis Infections" "infections, Yersinia pseudotuberculosis" "Human Skeletal Muscle Cells" + "fenazaquin" + "4-[2-(4-tert-butylphenyl)ethoxy]quinazoline" "HMSN2 with giant axons" "giant axonal neuropathy type 2" "DCAF8 giant axonal neuropathy" "giant axonal neuropathy caused by mutation in DCAF8" "CMT2 with giant axons" "autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons" - "fenazaquin" - "4-[2-(4-tert-butylphenyl)ethoxy]quinazoline" "CE 14:0" "F1-F0 complex" "hydrogen-transporting ATP synthase complex" @@ -187996,8 +187990,6 @@ "blood serum GTP cyclohydrolase 1 amount" "cone dystrophy" "blood serum mediator of RNA polymerase II transcription subunit 28 amount" - "greasy grouper" - "Epinephelus tauvina (Forsskal, 1775)" "lipoid histiocytosis (kerasin type)" "Gaucher syndrome" "Gaucher's disease" @@ -188009,6 +188001,8 @@ "glucocerebrosidase deficiency" "glocucerebrosidase deficiency" "glucosylceramide beta-glucosidase deficiency" + "greasy grouper" + "Epinephelus tauvina (Forsskal, 1775)" "(9Z)-tetradec-9-enoate" "Mosaic trisomy type 20" "Mosaic trisomy chromosome 20" @@ -188107,8 +188101,8 @@ "blood serum serine-rich single-pass membrane protein 1 (human) amount" "pulmonary atresia with ventricular septal defect" "pulmonary valve atresia with ventricular septal defect" - "ovary germinal epithelium" "epithelium superficiale (ovarium)" + "ovary germinal epithelium" "surface epithelium of ovary" "ovarian surface epithelium" "germinal epithelium (female)" @@ -188244,7 +188238,6 @@ "gastric NET G1/2" "gastric well differentiated endocrine tumor/carcinoma" "gastric well differentiated endocrine tumour" - "Autosomal recessive intermediate osteopetrosis" "cerebral gigantism syndrome" "Sotos syndrome type 1" "cerebral gigantism" @@ -188254,6 +188247,7 @@ "chromosome 5q35 deletion syndrome" "Sotos' syndrome" "Sotos syndrome caused by mutation in NSD1" + "Autosomal recessive intermediate osteopetrosis" "CAL-85-1" "cavernous angioma" "cavernoma" @@ -188420,11 +188414,11 @@ "pediatric immature ovarian teratoma" "Burkholderia cepacia genomovar II" "neurofibromatosis type 2" - "BL-1" "vitreous detachment" "detachment Of vitreous" "vitreous, detachment Of" "Vitreous Detachment" + "BL-1" "MED" "blood serum sorcin amount" "glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome" @@ -188454,8 +188448,8 @@ "small cell neuroendocrine carcinoma of urinary bladder" "urinary bladder small cell carcinoma" "urinary bladder small cell neuroendocrine carcinoma" - "SCCB" "SCCB" + "SCCB" "small cell/neuroendocrine carcinoma of urinary bladder" "bladder small cell neuroendocrine cancer" "small cell carcinoma of the urinary bladder" @@ -188555,11 +188549,11 @@ "adenocarcinoma - colon" "adenocarcinoma of the colon" "blood serum beta-1,3-galactosyltransferase 2 amount" + "polydactyly, postaxial, type A6" "MSD" "Multiple sulfatase deficiency disease" "Austin type juvenile sulfatidosis" "Mucosulfatidosis" - "polydactyly, postaxial, type A6" "pigmented nodular adrenocortical disease, primary, type 1" "primary pigmented nodular adrenocortical disease caused by mutation in PRKAR1A" "PRKAR1A primary pigmented nodular adrenocortical disease" @@ -188603,6 +188597,9 @@ "self-improving congenital ichthyosis" "SICI" "MPO-DNA complex" + "PBD-ZSS" + "PBD-ZSD" + "PBD-Zellweger spectrum disorder" "Bed nucleus of stria terminalis" "Nucleus of stria terminalis" "Nuclei of stria terminalis" @@ -188611,9 +188608,6 @@ "hereditary sensory and autonomic neuropathy type I" "Hereditary Sensory Neuropathy Type I" "HSAN1" - "PBD-ZSS" - "PBD-ZSD" - "PBD-Zellweger spectrum disorder" "iatrogenic Kaposi sarcoma" "iatrogenic Kaposi's sarcoma" "partial monosomy of the long arm of chromosome 2" @@ -188683,10 +188677,10 @@ "hereditary neuropathy with liability to pressure palsies" "Macrothrombozytopenia" "blood 5alpha-pregnane-3beta,20alpha-diol disulfate amount" - "growth differentiation factor 15 levels" "Leishmania (Leishmania) chagasi" "Leishmania infantum chagasi" "Leishmania donovani chagasi" + "growth differentiation factor 15 levels" "HMSN2 with giant axons" "CMT2 with giant axons" "Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons" @@ -189142,7 +189136,6 @@ "array_manufacturer" "switchgrass" "blood serum zinc finger CCHC domain-containing protein 17 amount" - "blood protein LEG1 homolog amount" "small intestinal fibrosarcoma" "fibrosarcoma of the small bowel" "fibrosarcoma of the small intestine" @@ -189152,6 +189145,7 @@ "small intestine fibrosarcoma" "fibrosarcoma of small intestine" "fibrosarcoma, small intestine" + "blood protein LEG1 homolog amount" "blood neurofilament light polypeptide amount" "blood septin-7 amount" "blood serum transcription elongation factor A protein-like 8 amount" @@ -189301,8 +189295,8 @@ "SMAD7 colorectal cancer" "colorectal cancer, susceptibility to, 3" "colorectal cancer caused by mutation in SMAD7" - "blood serum myosin light chain 4 amount" "displacement of intervertebral disc" + "blood serum myosin light chain 4 amount" "delayed-type hypersensitivity" "type IV hypersensitivity reaction" "type IV hypersensitivity" @@ -189370,10 +189364,10 @@ "blood carcinoembryonic antigen-related cell adhesion molecule 20 amount" "unspecified JIA" "unspecified juvenile idiopathic arthritis" - "High pitched voice" - "High-pitched voice" "blood lipocalin-15 amount" "blood serum Phosphatidylcholine (18:0_20:2) amount" + "High pitched voice" + "High-pitched voice" "GM17260 cell" "bis(2,3-dihydroxypropyl) hydrogen phosphate" "blood serum Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3 amount" @@ -189507,8 +189501,8 @@ "tumour of GI system" "neoplasm of the digestive system" "tumor of GI system" - "digestive system neoplasm" "neoplasm of GI system" + "digestive system neoplasm" "digestive tumour" "tumour of gastrointestinal system" "GI tumour" @@ -190089,6 +190083,12 @@ "malignant tumour of the thalamus" "tumour of thalamus" "cancer of dorsal plus ventral thalamus" + "chromosome 16p11.2 duplication syndrome" + "proximal trisomy 16p11.2" + "proximal 16p11.2 microduplication syndrome" + "proximal dup(16)(p11.2)" + "blood serum protein CutA amount" + "blood serum E3 ubiquitin-protein ligase CBL-C amount" "tumor of retina" "tumour of retina" "retinal tumour" @@ -190102,12 +190102,6 @@ "neoplasm of retina" "retina neoplasm (disease)" "neoplasm of the retina" - "chromosome 16p11.2 duplication syndrome" - "proximal trisomy 16p11.2" - "proximal 16p11.2 microduplication syndrome" - "proximal dup(16)(p11.2)" - "blood serum protein CutA amount" - "blood serum E3 ubiquitin-protein ligase CBL-C amount" "AML, t(9;22)(q34.1;q11.2)" "AML, t(9;22)(q34;q11)" "AML, t(9;22)(q34;q11.2)" @@ -190229,8 +190223,8 @@ "corneal structure" "neovascular age-related macular degeneration" "wet AMD" - "wet senile macular retinal degeneration" "wet ARMD" + "wet senile macular retinal degeneration" "exudative senile macular degeneration of retina" "choroidal neovascularization" "wet macular degeneration" @@ -190484,7 +190478,6 @@ "Halal-Setton-Wang syndrome" "Pink eye" "Sharma-Kapoor-Ramji syndrome" - "Spherophakia - brachymorphia" "blood serum hemoglobin subunit gamma-2 amount" "rhabdomyosarcoma (disease) of extrahepatic bile duct" "rhabdomyosarcoma of extrahepatic bile duct" @@ -190494,6 +190487,7 @@ "bile duct rhabdomyosarcoma (disease)" "rhabdomyosarcoma of the extrahepatic bile duct" "blood serum calsenilin amount" + "Spherophakia - brachymorphia" "4-amino-N-[(1-ethylpyrrolidin-2-yl)methyl]-5-(ethylsulfonyl)-2-methoxybenzamide" "blood serum AN1-type zinc finger protein 1 amount" "ONT P2 Solo" @@ -190528,7 +190522,6 @@ "Chediak - Steinbrinck anomaly" "Chediak-Higashi syndrome" "Chédiak-Higashi-Steinbrink syndrome" - "Syndrome with 46,XX DSD" "blood serum cathepsin O amount" "(SP-4-2)-diamminedichloridoplatinum" "Cisplatin" @@ -190539,6 +190532,7 @@ "central core myopathy" "central core disease (disorder)" "central core disease" + "Syndrome with 46,XX DSD" "3-hydroxydodecanoate" "subdural intracranial hematoma" "intracranial hematoma, subdural" @@ -190650,8 +190644,8 @@ "mental retardation and distinctive Facial features with or without Cardiac defects" "blood CCAAT/enhancer-binding protein alpha amount" "blood serum Phosphatidylcholine (18:0_20:3) amount" - "CMT due to MARS mutation" "blood serum Tax1-binding protein 1 amount" + "CMT due to MARS mutation" "1H-imidazol-3-ium" "CAHMR syndrome" "blood serum Arf-GAP domain and FG repeat-containing protein 1 amount" @@ -191353,10 +191347,10 @@ "lethal variant of Simpson-Golabi-Behmel syndrome" "Simpson-Golabi-Behmel syndrome caused by mutation in OFD1" "Simpson-Golabi-Behmel syndrome, type 2, X-linked recessive" + "Verloes-Van Maldergem-de Marneffe syndrome" "WGSS" "Hench-Rosenberg syndrome" "Hench's syndrome" - "Verloes-Van Maldergem-de Marneffe syndrome" "blood serum lysosomal Pro-X carboxypeptidase amount" "diaphragm disease" "disease or disorder of diaphragm" @@ -191376,10 +191370,10 @@ "pervasive development disorder" "blood serum bone morphogenetic protein 3B amount" "blood serum neurensin-1 amount" - "multiple keratoacanthoma, Muir-Torre type" - "Muir-Torre syndrome" "kapur-Toriello syndrome" "cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome" + "multiple keratoacanthoma, Muir-Torre type" + "Muir-Torre syndrome" "mercurialism" "Mercury Poisoning, Nervous System" "mercury poisoning" @@ -191398,8 +191392,8 @@ "malignant neoplasm of prostate" "malignant tumour of prostate" "malignant prostate neoplasm" - "prostatic cancer" "prostate gland cancer" + "prostatic cancer" "cancer of prostate gland" "malignant tumor of the prostate" "malignant tumor of prostate" @@ -191575,13 +191569,13 @@ "Giardia infection" "infection by Giardia lamblia" "intellectual disability-loss of expressive language-facial dysmorphism syndrome" - "blood serum amiloride-sensitive amine oxidase [copper-containing] amount" "Viral hepatitis, type A (disorder)" "viral hepatitis, type A" "Hepatitis A" "hepatitis type A" "hepatitis A virus infection" "Hepatitis A infection" + "blood serum amiloride-sensitive amine oxidase [copper-containing] amount" "rhegmatogenous retinal detachment" "IGHD II" "growth hormone deficiency, isolated, type II" @@ -191712,8 +191706,8 @@ "Neurolipocytoma" "Neurocytoma" "Harder, denser, fracture-prone bones" - "Isolated Noncompaction of the Ventricular Myocardium" "Familial doughnut lesions of skull" + "Isolated Noncompaction of the Ventricular Myocardium" "blood serum protein-tyrosine sulfotransferase 2 amount" "complex neurodevelopmental disorder" "proximal part of limb" @@ -191920,19 +191914,19 @@ "bronchospasm" "disorder of bronchus" "bronchus disease" - "hand dermatosis" "blood serum beta-1,4-galactosyltransferase 2 amount" + "hand dermatosis" "blood serum glutamate--cysteine ligase regulatory subunit amount" "Gliocladium flavofuscum" "Trichoderma flavofuscum" "Trichoderma virens" "Gliocladium virens" "blood serum gem-associated protein 7 amount" - "Anomalie syndromique du développement des yeux" "Methanobrevibacter smithii PS" "Methanobrevibacter smithii strain ATCC 35061" "Methanobrevibacter smithii DSM 861" "Methanobrevibacter smithii str. ATCC 35061" + "Anomalie syndromique du développement des yeux" "isovaleric aciduria" "isovaleric acidemia" "Isovalericacidemia" @@ -192186,7 +192180,6 @@ "ARSB deficiency" "N-acetylgalactosamine 4-sulfatase deficiency" "Maroteaux - Lamy syndrome" - "peritoneum neoplasm" "peritoneal neoplasm" "tumor of peritoneum" "peritoneum neoplasm (disease)" @@ -192194,6 +192187,7 @@ "neoplasm of peritoneum" "peritoneum tumor" "tumour of peritoneum" + "peritoneum neoplasm" "Mucopolysaccharidosis type IIIB" "N-acetyl-alpha-glucosaminidase deficiency" "Mucopolysaccharidosis type 3B" @@ -192664,9 +192658,10 @@ "corpora allata" "corpus allatum primordium" "(2S)-2-acetamidobutanedioate" - "Rabson-Mendenhall syndrome" "T-B+ SCID due to CD45 deficiency" + "Rabson-Mendenhall syndrome" "Monteggia's fracture of ulna" + "dental pain" "autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1" "immunodeficiency 27B, mycobacteriosis, AD" "autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency" @@ -192679,7 +192674,6 @@ "immunodeficiency 27B" "autosomal dominant MSMD due to partial IFNgammaR1 deficiency" "blood serum protocadherin gamma-A12 amount" - "dental pain" "AML, t(11;15)(p15;q35)" "hereditary spastic paraplegia type 48" "SPG48" @@ -193206,15 +193200,15 @@ "Bird Fancier's Lung" "Avian hypersensitivity pneumonitis" "bird fancier's lung" - "metabolimic profiling" - "Joubert syndrome with JATD" - "JBTS with JATD" "Humero-radio-ulnar intercalary transverse meromelia, unilateral" "central pontine myelinosis" "central pontine myelinolysis" "osmotic demyelination syndrome" "central pontine myelinolysis (disorder)" "Myelinolysis, Central Pontine" + "metabolimic profiling" + "Joubert syndrome with JATD" + "JBTS with JATD" "myxoid extraosseous chondrosarcoma" "myxoid extraskeletal chondrosarcoma" "extraosseous chondrosarcoma" @@ -193254,16 +193248,19 @@ "childhood infratentorial embryonal tumour with Multilayered Rosettes, C19MC-altered" "Hemoglobin A1/Total Hemoglobin" "HGBA1HGB" + "blood serum peptidyl-prolyl cis-trans isomerase-like 3 amount" "lamina muscularis of esophageal mucous membrane" "muscularis mucosae of esophagus" "esophagus muscularis mucosae" "lamina muscularis mucosae (oesphagus)" - "blood serum peptidyl-prolyl cis-trans isomerase-like 3 amount" "Staurosporine" "(5S,6R,7R,9R)-6-methoxy-5-methyl-7-methylamino-6,7,8,9,15,16-hexahydro-5H,14H-5,9-epoxy-4b,9a,15-triazadibenzo[b,h]cyclonona[1,2,3,4-jkl]cyclopenta[e]-as-indacen-14-one" "submandibular gland lymphadenitis (disease)" "lymphadenitis (disease) of submandibular gland" "submandibular lymphadenitis" + "Long QT syndrome type 8" + "Long QT syndrome - syndactyly" + "LQT8" "Gastrointestinal polyposis - ectodermal changes" "Gastrointestinal polyposis - skin pigmentation - alopecia - fingernail changes" "cancer of great vessel of heart" @@ -193275,9 +193272,6 @@ "great vessel of heart cancer" "great vessel cancer" "Ataxia - diabetes - goiter - gonadal insufficiency" - "Long QT syndrome type 8" - "Long QT syndrome - syndactyly" - "LQT8" "blood serum SUN domain-containing protein 5 amount" "blood glutathione reductase, mitochondrial amount" "Secondary pulmonary arterial hypertension" @@ -193695,10 +193689,19 @@ "CDG1C" "Congenital disorder of glycosylation type Ic" "MEB disease with bilateral multicystic leucodystrophy" - "TAG 52:3" "hypertrichosis (disease) of eyelid" "eyelid hypertrichosis (disease)" "blood serum zinc finger protein 134 amount" + "TAG 52:3" + "Infection by Dictyocaulus (disorder)" + "Dictyocaulus disease or disorder" + "Dictyocaulus Infections" + "Dictyocaulus caused disease or disorder" + "Dictyocaulus infectious disease" + "Boyes Arabidopsis Growth Stage 5.1" + "129S1" + "blood serum Phosphatidylcholine (O-18:2_18:2) amount" + "Enlarged heart left atrium" "Van Bogaert's sclerosing leukoencephalitis" "Van Bogaert encephalitis" "Van Bogaert disease" @@ -193714,15 +193717,6 @@ "Dawson's encephalitis" "subacute sclerosing panencephalitis" "Subacute Sclerosing Panencephalitis" - "Infection by Dictyocaulus (disorder)" - "Dictyocaulus disease or disorder" - "Dictyocaulus Infections" - "Dictyocaulus caused disease or disorder" - "Dictyocaulus infectious disease" - "Boyes Arabidopsis Growth Stage 5.1" - "129S1" - "blood serum Phosphatidylcholine (O-18:2_18:2) amount" - "Enlarged heart left atrium" "blood serum transcriptional enhancer factor TEF-5 amount" "Carnevale-Hernández-del Castillo syndrome" "partial monosomy of the long arm of chromosome 8" @@ -194184,13 +194178,13 @@ "blood beta-2-glycoprotein 1 amount" "hereditary amyloidosis (disease)" "amyloidosis, Familial" - "blood serum 3-ketoacyl-CoA thiolase, peroxisomal amount" "Stomatitis, Herpetic" "Simplexvirus caused stomatitis" "Simplexvirus stomatitis" "herpes simplex virus gingivostomatitis" "herpetic gingivostomatitis" "primary herpetic gingivostomatitis" + "blood serum 3-ketoacyl-CoA thiolase, peroxisomal amount" "blood serpin H1 amount" "blood large ribosomal subunit protein uL24m amount" "hair" @@ -194281,10 +194275,10 @@ "blood chromatin complexes subunit BAP18 (human) amount" "microdeletion syndrome" "blood seizure protein 6 amount" - "blood serum 2-iminobutanoate/2-iminopropanoate deaminase amount" "blood serum T-cell leukemia/lymphoma protein 1B amount" "pelvis of ureter" "kidney pelvis" + "blood serum 2-iminobutanoate/2-iminopropanoate deaminase amount" "sixth visceral pouch" "visceral pouch 6" "6th branchial pouch" @@ -194301,10 +194295,10 @@ "epidemic hemorrhagic fever virus" "Seoul hantavirus" "blood serum beta-1,4-galactosyltransferase 5 amount" - "biliary tree inflammation" "biliary tract infection" "cholangitis" "inflammation of biliary tree" + "biliary tree inflammation" "Aagenaes syndrome" "cholestasis-edema syndrome, Norwegian type" "blood serum glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 amount" @@ -194572,11 +194566,11 @@ "ectrodactyly of hand" "blood serum dystrotelin amount" "hereditary papulotranslucent acrokeratoderma" - "fallopian tube mucinous neoplasm" - "fallopian tube mucinous tumor" "urinary bladder, atony of" "bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT" "atony of urinary bladder" + "fallopian tube mucinous neoplasm" + "fallopian tube mucinous tumor" "secondary hyperparathyroidism (of renal origin)" "hyperparathyroidism due to renal insufficiency" "blood otoancorin amount" @@ -194740,8 +194734,8 @@ "uterine ligament tumor" "uterine ligament neoplasm" "uterine ligament tumour" - "tumour of the uterine ligament" "neoplasm of uterine ligament" + "tumour of the uterine ligament" "tumor of the uterine ligament" "type 1 diabetes mellitus caused by mutation in HNF1A" "HNF1A type 1 diabetes mellitus" @@ -194842,9 +194836,6 @@ "Photosensitive skin" "eyelid hypotrichosis" "TAG 52:4" - "mid intestine" - "middle intestine" - "intestinum jejunum" "Forestier's disease" "Disseminated idiopathic skeletal hyperostosis (disorder)" "Hyperostosis, Diffuse Idiopathic Skeletal" @@ -194854,6 +194845,9 @@ "Ankylosing vertebral hyperostosis" "disseminated idiopathic skeletal hyperostosis" "dish" + "mid intestine" + "middle intestine" + "intestinum jejunum" "blood serum DDB1- and CUL4-associated factor 5 amount" "Wellesley-Carman-French syndrome" "urachal cyst" @@ -195257,9 +195251,9 @@ "Classic Joubert syndrome" "blood serum complement C1q tumor necrosis factor-related protein 4 amount" "GM17117 cell" + "trichorhinophalangeal syndrome type 1 and 3" "7-chloro-1-methyl-5-phenyl-1,3-dihydro-2H-1,4-benzodiazepin-2-one" "Diazepam" - "trichorhinophalangeal syndrome type 1 and 3" "Subtelomeric 1p36 deletion" "Del(1)(p36)" "Deletion 1pter" @@ -195317,8 +195311,8 @@ "blood serum lymphocyte antigen 6 complex locus protein G6d amount" "placental-site gestational trophoblastic tumour" "placental site gestational trophoblastic tumor" - "PSST" "PSST" + "PSST" "placental site trophoblastic tumor" "placental-site gestational trophoblastic tumor" "placental site trophoblastic tumor (morphologic abnormality)" @@ -195506,9 +195500,9 @@ "Hypoprothrombinemia" "Dysprothrombinemia" "TNC" - "blood serum vacuolar protein sorting-associated protein 4A amount" "DAS28" "disease activity score" + "blood serum vacuolar protein sorting-associated protein 4A amount" "spermatogenic failure 49" "SPGF49" "Monacrosporium haptotylum" @@ -195545,6 +195539,7 @@ "ocular melanoma" "melanoma of the eye" "blood muscarinic acetylcholine receptor M1 amount" + "Visium CytAssist" "brain stem astrocytic neoplasm of childhood" "childhood brain stem astrocytic neoplasm" "childhood brain stem astrocytoma" @@ -195557,7 +195552,6 @@ "Dental anomalies" "Abnormal teeth" "Abnormal dentition" - "Visium CytAssist" "Emery-Dreifuss muscular dystrophy 4, autosomal dominant" "autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in SYNE1" "SYNE1 autosomal dominant Emery-Dreifuss muscular dystrophy" @@ -195649,6 +195643,7 @@ "Calculus, Renal" "Abnormality of the bone of the forehead" "Abnormality of the frontal bone" + "acquired hypopituitarism" "malignant colorectal neoplasm" "colorectal cancer" "malignant neoplasm of large bowel" @@ -195671,7 +195666,6 @@ "malignant colorectal tumor" "malignant large bowel neoplasm" "malignant colorectum neoplasm" - "acquired hypopituitarism" "blood serum Phosphatidylcholine (18:0_22:6) amount" "blood serum ADP-ribosylation factor-binding protein GGA3 amount" "blood serum TBC1 domain family member 22B amount" @@ -195689,8 +195683,6 @@ "genetic peripheral neuropathy" "Angelman syndrome due to paternal uniparental disomy of chromosome type 15" "UPD(15)pat" - "MCV" - "mean cell volume" "renal pelvis plus ureter" "renal pelvis and ureter" "END STAGE RENAL DIS" @@ -195727,6 +195719,8 @@ "chronic kidney failure" "Kidney Insufficiencies, Chronic" "Chronic Renal Failure" + "MCV" + "mean cell volume" "tadpole stage" "blood serum Phosphatidylcholine (18:2_0:0) amount" "urothelial cell" @@ -195932,16 +195926,16 @@ "HKPP" "HOKPP" "Westphall disease" - "distal trisomy type 14q" - "telomeric duplication 14q" - "trisomy 14qter" - "distal duplication 14q" "breast capillary angioma" "capillary angioma of breast" "capillary hemangioma of the breast" "capillary hemangioma of breast" "capillary angioma of the breast" "breast capillary hemangioma" + "distal trisomy type 14q" + "telomeric duplication 14q" + "trisomy 14qter" + "distal duplication 14q" "abscess of liver" "hepatic abscess" "sphenoidal sinus-chr." @@ -196196,12 +196190,13 @@ "bursitis of olecranon" "endophthalmitis, chronic" "eosinophil peroxidase deficiency" - "HLHS" "Familial epilepsy and mental retardation limited to females" "EFMR" + "HLHS" "perineal region" "regio perinealis" "blood serum E3 ubiquitin-protein ligase pellino homolog 2 amount" + "sequential fluorescence in situ hybridization" "malignant biphasic mesothelioma, malignant" "biphasic mesothelioma" "mixed mesothelioma" @@ -196209,7 +196204,6 @@ "malignant biphasic mesothelioma" "mesothelioma, biphasic, malignant" "mesothelioma, biphasic, malignant (morphologic abnormality)" - "sequential fluorescence in situ hybridization" "cortex of lens" "3-fold embryo" "blood serum single-pass membrane and coiled-coil domain-containing protein 2 amount" @@ -196565,6 +196559,7 @@ "Muscle of heart" "Heart muscle" "high risk pregnancy" + "blood serum long-chain specific acyl-CoA dehydrogenase, mitochondrial amount" "Herpesvirus infection (disorder)" "Herpesviridae disease or disorder" "Herpesviridae caused disease or disorder" @@ -196573,7 +196568,6 @@ "Herpesviridae infectious disease" "Herpesviridae infections" "Herpesviridae Infections" - "blood serum long-chain specific acyl-CoA dehydrogenase, mitochondrial amount" "phosphorylase kinase, intrinsic catalyst activity" "Whyte-Murphy syndrome" "pyruvate carboxylase deficiency type C" @@ -196807,10 +196801,10 @@ "PRSS12 autosomal recessive non-syndromic intellectual disability" "autosomal recessive non-syndromic intellectual disability caused by mutation in PRSS12" "mental retardation, autosomal recessive type 1" - "Neuroschistosomiasis" - "neuroschistosomiasis" "Endocardial cushion defect" "Atrioventricular septal defect" + "Neuroschistosomiasis" + "neuroschistosomiasis" "membranous nephropathy" "membranous Glomerulonephropathy" "idiopathic membranous nephropathy" @@ -196989,8 +196983,8 @@ "blood epigen amount" "pulmonary valve stenosis" "Pulmonary Valve Stenosis" - "Enterocolitis, Pseudomembranous" "blood serum desmocollin-1 amount" + "Enterocolitis, Pseudomembranous" "blood serum membrane-bound transcription factor site-1 protease amount" "anatomical entity prostate-specific antigen amount" "Wolhynia qintanae" @@ -197103,8 +197097,8 @@ "papillary renal cell cancer" "sporadic papillary renal cell carcinoma" "papillary kidney carcinoma" - "HPRCC" "HPRCC" + "HPRCC" "chromophil carcinoma of the kidney" "chromophil renal cell carcinoma" "renal cell carcinoma, papillary, type 1" @@ -197261,15 +197255,15 @@ "carcinoma of thymus" "thymoma, malignant" "thymoma, type C (morphologic abnormality)" - "thymoma type C" "thymoma type C" + "thymoma type C" "malignant thymoma" "thymic carcinoma" "thymoma, type C" "thymic carcinoma (excluding well differentiated thymic carcinoma)" "thymus carcinoma" - "type C thymoma" "type C thymoma" + "type C thymoma" "thymic carcinoma excluding well differentiated thymic carcinoma" "Congenital disorder of glycosylation type If" "Congenital disorder of glycosylation type 1f" diff --git a/src/ontology/reports/xrefs.tsv b/src/ontology/reports/xrefs.tsv index 7e58a360..e9a1c0c2 100644 --- a/src/ontology/reports/xrefs.tsv +++ b/src/ontology/reports/xrefs.tsv @@ -86,11 +86,11 @@ "RRID:CVCL_2211" "CLO:0009242" "BTO:0003771" - "PMID:28240269" "UMLS:C2931355" "OMIM:182600" "MeSH:C536864" "ICD10:G11.4" + "PMID:28240269" "icd11.foundation:1914397767" "SCTID:84004001" "MESH:D017564" @@ -125,12 +125,12 @@ "UMLS:C1832588" "OMIM:601224" "MeSH:C538356" + "UMLS:C0740394" + "SNOMEDCT_US:35885006" "DOID:0070415" "OMIM:617412" "UMLS:C4479431" "MEDGEN:1374289" - "UMLS:C0740394" - "SNOMEDCT_US:35885006" "MEDGEN:14336" "SCTID:118940003" "ICD10CM:G00-G99" @@ -167,6 +167,8 @@ "PMID:33634981" "NCIt:C258" "SNOMEDCT:255631004" + "OMIM:216300" + "ICD10:Q87.8" "SCTID:255110003" "NCIT:C4032" "DOID:3711" @@ -175,8 +177,6 @@ "MEDGEN:76014" "ONCOTREE:BLAD" "UMLS:C0279682" - "OMIM:216300" - "ICD10:Q87.8" "PMID:37794183" "PMID:31530798" "MEDGEN:232242" @@ -369,7 +369,6 @@ "PMID:28240269" "PMID:28240269" "ICD10:Q43.1" - "PMID:29875488" "UMLS:C0266579" "MedDRA:10014923" "MEDGEN:540011" @@ -389,6 +388,7 @@ "MESH:D005356" "UMLS:C0016053" "ICD10CM:M79.7" + "PMID:29875488" "MedDRA:10062759" "OMIMPS:127550" "NCIT:C111802" @@ -511,16 +511,27 @@ "UMLS:C0268448" "OMIM:248250" "PMID:37164013" - "ICD10:G31.0" - "MeSH:C538209" - "UMLS:C1861735" - "OMIM:117300" "Orphanet:427" "icd11.foundation:712299654" "SCTID:715343000" "UMLS:C4275180" "MEDGEN:899592" "GARD:16532" + "ICD10:G31.0" + "MeSH:C538209" + "UMLS:C1861735" + "OMIM:117300" + "SNOMEDCT:74732009" + "ICD9:307" + "SNOMEDCT:192639003" + "ICD9:307.59" + "SNOMEDCT:268721001" + "ICD9:290-319.99" + "ICD9:300-316.99" + "ICD9:307.5" + "DOID:150" + "ICD9:307.9" + "SNOMEDCT:192637001" "PMID:35347128" "MedDRA:10013030" "GARD:942" @@ -537,17 +548,6 @@ "ICD9:123.4" "MedDRA:10013029" "MeSH:D004169" - "SNOMEDCT:74732009" - "ICD9:307" - "SNOMEDCT:192639003" - "ICD9:307.59" - "SNOMEDCT:268721001" - "ICD9:290-319.99" - "ICD9:300-316.99" - "ICD9:307.5" - "DOID:150" - "ICD9:307.9" - "SNOMEDCT:192637001" "OMIM:612924" "GARD:18554" "MEDGEN:416691" @@ -608,16 +608,16 @@ "MAT:0000479" "PMID:37794183" "PMID:22939981" + "ICD10:Q87.2" + "OMIM:103285" + "MeSH:C538052" + "UMLS:C1863204" "OMIM:616079" "GARD:17640" "MEDGEN:863583" "ICD10CM:H35.5" "Orphanet:397758" "UMLS:C4015146" - "ICD10:Q87.2" - "OMIM:103285" - "MeSH:C538052" - "UMLS:C1863204" "ICD10:Q87.5" "OMIM:309500" "PMID:37794183" @@ -770,7 +770,6 @@ "CAS:338-70-5" "Gmelin:2207" "UM-BBD_compID:c0017" - "Beilstein:1905970" "Orphanet:325055" "DOID:8941" "MedDRA:10039790" @@ -1031,7 +1030,6 @@ "Gmelin:97695" "Drug_Central:4610" "PMID:12706980" - "Beilstein:90825" "PMID:22311778" "PMID:15660210" "PMID:17439666" @@ -1228,7 +1226,6 @@ "KEGG:C00067" "PDBeChem:FOR" "PMID:16423181" - "Beilstein:1209228" "PMID:25042713" "PMID:17618393" "KEGG:D00017" @@ -1425,10 +1422,10 @@ "MeSH:C536745" "MedDRA:10048017" "ICD10:Q84.1" + "ICD10:Q93.5" "UMLS:C1333176" "NCIT:C27509" "MEDGEN:232399" - "ICD10:Q93.5" "PMID:24816252" "ICD9:078.19" "MEDGEN:41831" @@ -1642,6 +1639,7 @@ "UMLS:C0263627" "OMIM:302960" "PMID:29875488" + "PMID:28240269" "DrugBank:DB01159" "MeSH:D006221" "SNOMEDCT:63682003" @@ -1668,7 +1666,6 @@ "UMLS:C0013533" "DOID:10911" "SCTID:271532008" - "PMID:28240269" "NCIt:C81278" "UMLS:C2825556" "UMLS:C4025361" @@ -1885,10 +1882,10 @@ "NCIT:C4778" "ICD9:223.0" "PMID:30188897" + "ICD10:G60.0" "Orphanet:85330" "MEDGEN:930605" "UMLS:C4304936" - "ICD10:G60.0" "ICD10:E83.5" "UMLS:C2931427" "OMIM:145981" @@ -2047,7 +2044,6 @@ "PDBeChem:TG1" "CAS:67526-95-8" "PMID:20357004" - "Beilstein:4649293" "PMID:24598360" "PMID:9014219" "PMID:17825049" @@ -2199,15 +2195,17 @@ "MEDGEN:1784281" "UMLS:C1853618" "UMLS:C4020719" + "OMIM:300600" + "ICD10:H35.5" "NCIt:C105585" "SNOMEDCT:36048009" "ICD10:R73" - "OMIM:300600" - "ICD10:H35.5" "PMID:29875488" "PMID:29875488" "ICD10:E75.2" "OMIM:608013" + "PMID:23475189" + "PMID:19347970" "MESH:D011671" "UMLS:C0034103" "SNOMEDCT:32620007" @@ -2222,8 +2220,6 @@ "ICD9:522.0" "MeSH:D011671" "DOID:11121" - "PMID:23475189" - "PMID:19347970" "SNOMEDCT:261226001" "PMID:27193062" "RRID:CVCL_D261" @@ -2360,10 +2356,10 @@ "OMIM:619690" "MEDGEN:1794266" "UMLS:C5562056" - "OMIM:615873" - "ICD10:Q87.0" "PMID:37794183" "PMID:29875488" + "OMIM:615873" + "ICD10:Q87.0" "OMIM:617920" "Orphanet:284385" "GARD:21119" @@ -2610,7 +2606,6 @@ "PMID:14681857" "PMID:22517104" "PMID:1694860" - "Beilstein:1907329" "PMID:18854045" "PMID:15181167" "PMID:11323092" @@ -2804,12 +2799,12 @@ "DOID:0080272" "UMLS:C4540453" "PMID:37794183" + "NCIt:C94618" + "Wikipedia:Excretion" "BTO:0002405" "RRID:CVCL_0258" "CLO:0002932" " CLO:0002933" - "NCIt:C94618" - "Wikipedia:Excretion" "UMLS:C0265280" "GARD:3047" "MEDGEN:82698" @@ -2868,7 +2863,6 @@ "PMID:31148" "Beilstein:1773077" "Reaxys:1724349" - "Beilstein:1724349" "HMDB:HMDB0000510" "CAS:542-32-5" "PMID:37794183" @@ -3182,11 +3176,11 @@ "GARD:18555" "OMIM:612925" "PMID:24816252" + "SNOMEDCT_US:54781007" + "UMLS:C0268024" "MEDGEN:1851662" "OMIM:620666" "UMLS:C5882738" - "SNOMEDCT_US:54781007" - "UMLS:C0268024" "PMID:37253714" "GARD:21357" "MEDGEN:1842842" @@ -3220,9 +3214,10 @@ "NORD:1818" "Orphanet:887" "icd11.foundation:1452617987" - "PMID:29875488" "OMIM:301052" "DOID:0080839" + "PMID:29875488" + "PMID:37794183" "MESH:C537505" "OMIM:262650" "Orphanet:629" @@ -3230,7 +3225,6 @@ "MEDGEN:340412" "icd11.foundation:1665498704" "UMLS:C1849779" - "PMID:37794183" "SCTID:239088003" "GARD:8550" "MESH:C535374" @@ -3312,6 +3306,7 @@ "ICD9:033.9" "ICD10CM:A37.1" "MEDGEN:12159" + "SNOMEDCT:74427007" "OMIM:616030" "OMIM:614837" "UMLS:C0162809" @@ -3335,7 +3330,6 @@ "OMIM:618841" "OMIM:615270" "OMIM:614838" - "SNOMEDCT:74427007" "ICD9:277.6" "UMLS:C0878682" "MEDGEN:168057" @@ -3397,8 +3391,8 @@ "UMLS:C5680507" "SNOMEDCT_US:65198009" "UMLS:C0151942" - "MIAA:0000203" "Wikipedia:Haltere" + "MIAA:0000203" "MAT:0000203" "EFO:0000886" "FBbt:00004783" @@ -3466,6 +3460,7 @@ "UMLS:C3553958" "OMIM:614875" "Orphanet:99646" + "Orphanet:183634" "MONDO:0006856" "MEDGEN:811450" "UMLS:C3714739" @@ -3473,7 +3468,6 @@ "EFO:1001044" "NCIT:C3786" "ICD10CM:C45-C49" - "Orphanet:183634" "MESH:D013959" "ICD9:246.8" "SCTID:14304000" @@ -3532,7 +3526,6 @@ "MetaCyc:BROMOBENZENE" "KEGG:C11036" "PMID:10996478" - "Beilstein:1236661" "CAS:108-86-1" "Wikipedia:Bromobenzene" "PMID:24318069" @@ -3567,8 +3560,6 @@ "SNOMEDCT:9861002" "MeSH:D013296" "NCIt:C76384" - "NCIt:C29885" - "GO:0042632" "UMLS:C1832594" "Orphanet:2899" "OMIM:601216" @@ -3576,12 +3567,13 @@ "SCTID:716195006" "GARD:5478" "MEDGEN:318659" + "NCIt:C29885" + "GO:0042632" "KEGG_REACTION:R04559" "Reactome:R-HSA-73828" "RHEA:23920" "Reactome:R-HSA-73800" "MetaCyc:AICARSYN-RXN" - "EC:4.3.2.2" "OMIM:300707" "ICD10:Q87.8" "PMID:37794183" @@ -3683,7 +3675,6 @@ "GARD:20692" "MEDGEN:1664416" "Reaxys:7662683" - "Beilstein:7662683" "PMID:22070570" "DOID:917" "UMLS:C1333968" @@ -3717,6 +3708,9 @@ "MONDO:0005878" "MESH:D015827" "DOID:11680" + "UMLS:C1857588" + "OMIM:204110" + "MeSH:C536604" "PMID:29875488" "UMLS:C0085859" "NANDO:2200738" @@ -3730,9 +3724,6 @@ "ICD9:258.8" "GARD:8466" "Orphanet:3453" - "UMLS:C1857588" - "OMIM:204110" - "MeSH:C536604" "PMID:37253714" "UMLS:C0406612" "icd11.foundation:1084215843" @@ -3814,7 +3805,6 @@ "DOID:0050882" "SNOMEDCT:1161001" "PMID:24816252" - "PMID:28240269" "galen:ProstateGland" "UMLS:C0033572" "CALOHA:TS-0828" @@ -3832,6 +3822,7 @@ "EV:0100104" "VHOG:0001261" "EMAPA:19287" + "PMID:28240269" "MEDGEN:1648439" "DOID:0111403" "OMIM:618273" @@ -3894,21 +3885,6 @@ "OMIM:613887" "OMIM:110800" "OMIM:600881" - "MESH:C537079" - "GARD:824" - "icd11.foundation:2021339495" - "NCIT:C176823" - "UMLS:C2931418" - "DOID:5812" - "SCTID:71904008" - "MEDGEN:444051" - "NANDO:1200329" - "OMIMPS:209920" - "NCIT:C3895" - "NANDO:2200702" - "MESH:D016511" - "Orphanet:572" - "OMIMPS:212093" "MONDO:0019100" "SCTID:25044007" "MeSH:D009471" @@ -3927,7 +3903,27 @@ "NORD:1505" "Orphanet:71211" "GARD:6267" + "MESH:C537079" + "GARD:824" + "icd11.foundation:2021339495" + "NCIT:C176823" + "UMLS:C2931418" + "DOID:5812" + "SCTID:71904008" + "MEDGEN:444051" + "NANDO:1200329" + "OMIMPS:209920" + "NCIT:C3895" + "NANDO:2200702" + "MESH:D016511" + "Orphanet:572" + "OMIMPS:212093" "PMID:37794183" + "OMIM:616192" + "MEDGEN:863873" + "UMLS:C4015436" + "GARD:17768" + "Orphanet:445062" "MA:0001173" "MESH:D013979" "GAID:854" @@ -3937,11 +3933,6 @@ "EMAPA:36512" "FMA:19035" "UMLS:C0040186" - "OMIM:616192" - "MEDGEN:863873" - "UMLS:C4015436" - "GARD:17768" - "Orphanet:445062" "KEGG COMPOUND:129618-40-2" "PMID:28819312" "PMID:28782122" @@ -4097,12 +4088,12 @@ "UMLS:C0454641" "UMLS:C4280573" "UMLS:C1847610" - "UMLS:C4023137" "MeSH:C535436" "OMIM:158810" "ICD10:G71.0" "OMIM:616471" "UMLS:C1834674" + "UMLS:C4023137" "NCIt:C27072" "MEDGEN:2872" "SCTID:254622008" @@ -4136,7 +4127,6 @@ "PMID:17508167" "PMID:11815511" "LINCS:LSM-2026" - "Beilstein:17705" "PMID:19088793" "PMID:17387608" "MetaCyc:1-3-7-TRIMETHYLXANTHINE" @@ -4266,8 +4256,8 @@ "PMID:29875488" "PMID:31251335" "PMID:23823483" - "PMID:37794183" "UMLS:C1845977" + "PMID:37794183" "NCIt:C5858" "Orphanet:849" "NORD:1186" @@ -4547,7 +4537,6 @@ "PMID:19073506" "PMID:15250677" "PMID:12669406" - "Beilstein:10229624" "PMID:16570351" "Patent:WO2011161689" "DrugBank:DB00619" @@ -4634,19 +4623,19 @@ "NCIT:C6633" "DOID:6868" "MEDGEN:235311" - "OMIM:204500" - "ICD10:E75.4" "UMLS:C5394548" "MEDGEN:1718769" "OMIM:618940" "GARD:16397" "DOID:0081298" + "OMIM:204500" + "ICD10:E75.4" "ICD10:Q87.8" + "OMIM:601075" "EC:4.2.1.93" "MetaCyc:4.2.1.93-RXN" "KEGG_REACTION:R00129" "Reactome:R-HSA-6806967" - "OMIM:601075" "Wikipedia:Pyruvic_acid" "MetaCyc:P41-PWY" "PMID:29875488" @@ -4780,7 +4769,6 @@ "MEDGEN:88444" "SNOMEDCT_US:59455009" "UMLS:C0220981" - "PMID:37164013" "KEGG:C05824" "PMID:23392866" "Reaxys:1726832" @@ -4790,6 +4778,7 @@ "CAS:1637-71-4" "PDBeChem:CSU" "PMID:23430915" + "PMID:37164013" "DOID:12721" "icd11.foundation:2009123831" "NORD:1468" @@ -4863,10 +4852,10 @@ "SCTID:254144002" "MEDGEN:96592" "GARD:4142" - "PMID:37794183" "MEDGEN:146772" "UMLS:C0677936" "NCIT:C120186" + "PMID:37794183" "DOID:4903" "ICDO:8320/3" "UMLS:C0205644" @@ -4913,10 +4902,10 @@ "MEDGEN:501176" "SCTID:61598006" "icd11.foundation:426701963" - "RRID:CVCL_U427" - "BTO:0006149" "UMLS:C0344106" "NCIt:C21097" + "RRID:CVCL_U427" + "BTO:0006149" "PMID:28240269" "OMIM:300860" "ICD10:Q87.8" @@ -4929,10 +4918,10 @@ "MedDRA:10023492" "UMLS:C0023521" "MedDRA:10082906" + "PMID:35347128" "ICD10:Q87.8" "OMIM:234250" "UMLS:C1856198" - "PMID:35347128" "MEDGEN:20989" "NCIT:C35458" "UMLS:C0038580" @@ -5013,7 +5002,6 @@ "PMID:24045699" "CAS:107-21-1" "PMID:15716482" - "Beilstein:505945" "PDBeChem:EDO" "PMID:29875488" "NCIT:C5942" @@ -5027,10 +5015,10 @@ "MONDO:0004982" "MeSH:D010195" "DOID:4989" - "NCIt:C3306" + "SCTID:75694006" "MEDGEN:14586" + "NCIt:C3306" "MedDRA:10033645" - "SCTID:75694006" "MESH:D010195" "MedDRA:10050539" "MeSH:D063847" @@ -5136,17 +5124,17 @@ "UMLS:C4721788" "PMID:37794183" "NCIt:C15189" - "UMLS:C2930869" - "UMLS:C1865294" - "OMIM:602484" - "MeSH:C535548" - "MeSH:C535292" "ZFA:0000265" "NCIT:C3127" "SCTID:126686005" "MEDGEN:43797" "UMLS:C0020627" "NCIt:C121970" + "UMLS:C2930869" + "UMLS:C1865294" + "OMIM:602484" + "MeSH:C535548" + "MeSH:C535292" "PMID:28235828" "SNOMEDCT:55827005" "NCIt:C50631" @@ -5156,6 +5144,7 @@ "UMLS:C1518691" "DOID:6232" "MEDGEN:274086" + "PMID:28240269" "PMID:16043043" "CAS:876-02-8" "Reaxys:2041839" @@ -5165,7 +5154,6 @@ "PMID:24380282" "PMID:32731414" "PMID:35644430" - "PMID:28240269" "PMID:28240269" "CMO:0000033" "NCIt:C64550" @@ -5421,6 +5409,8 @@ "BAMS:Pons" "Orphanet:98638" "PMID:35347128" + "NCIt:C114130" + "ICD10:O73" "ICD9:621.8" "NCIT:C26907" "MEDGEN:22590" @@ -5429,15 +5419,13 @@ "MESH:D014591" "ICD9:621.9" "DOID:345" - "NCIt:C114130" - "ICD10:O73" + "OMIMPS:614372" "CLO:0009227" "RRID:CVCL_0594" "BTO:0005065" "CLO:0008172" "CLO:0050548" "BTO:0000944" - "OMIMPS:614372" "FBbt:00005541" "SNOMEDCT:360387000" "PMID:19609351" @@ -5468,7 +5456,6 @@ "KEGG:C00213" "PMID:11272730" "PMID:16154544" - "Beilstein:1699442" "PMID:15023571" "PMID:17901997" "PMID:15331688" @@ -5611,12 +5598,12 @@ "NCIT:C84641" "DOID:11836" "SCTID:397932003" - "OMIM:617506" - "ICD10:Q87.1" - "OMIM:607721" "TAO:0000939" "ZFA:0000939" "EFO:0003592" + "OMIM:617506" + "ICD10:Q87.1" + "OMIM:607721" "NCIT:C3597" "MEDGEN:102296" "SCTID:92293007" @@ -6299,10 +6286,11 @@ "ICD10:Q99.8" "OMIM:300869" "PMID:32602732" + "PMID:23823483" "PMID:23823483" "FBbt:00005508" "VFB:FBbt_00005508" - "PMID:23823483" + "PMID:37794183" "NCIT:C12664" "MESH:D034841" "GAID:17" @@ -6314,7 +6302,7 @@ "MA:0003057" "galen:AbdominalCavity" "EMAPA:36505" - "PMID:37794183" + "UMLS:C1849538" "UMLS:C0024198" "MEDGEN:44213" "ICD10:A69.2" @@ -6330,7 +6318,6 @@ "MONDO:0019632" "Orphanet:91546" "MedDRA:10025169" - "UMLS:C1849538" "OMIM:613370" "MEDGEN:461967" "SCTID:609577006" @@ -6737,7 +6724,6 @@ "Orphanet:250984" "CAS:2465-59-0" "Reaxys:139956" - "Beilstein:139956" "Wikipedia:Oxypurinol" "KEGG:D02365" "HMDB:HMDB0000786" @@ -6794,7 +6780,6 @@ "Wikipedia:Water" "HMDB:HMDB0002111" "KEGG:C00001" - "Beilstein:3587155" "SNOMEDCT:11713004" "MedDRA:10006127" "MeSH:D002534" @@ -6860,8 +6845,8 @@ "Orphanet:49042" "NCIT:C84667" "PMID:24816252" - "PMID:33634981" "PMID:35347128" + "PMID:33634981" "MEDGEN:137975" "DOID:0050949" "SCTID:90505000" @@ -7195,8 +7180,8 @@ "SNOMEDCT_US:79883001" "UMLS:C0029927" "PMID:29875488" - "PMID:20634892" "PMID:37253714" + "PMID:20634892" "GARD:18015" "UMLS:C4693824" "OMIM:617982" @@ -7491,13 +7476,13 @@ "EHDAA:9380" "NCIT:C12409" "galen:Penis" - "SCTID:265793009" "FMA:9707" - "UMLS:C0342690" - "ICD10:E72.4" + "SCTID:265793009" "NCIT:C3302" "DOID:3450" "MESH:D010145" + "UMLS:C0342690" + "ICD10:E72.4" "MESH:D000782" "NCIT:C2873" "UMLS:C0002938" @@ -7663,24 +7648,6 @@ "DOID:6255" "PMID:35347128" "PMID:31969693" - "MONDO:0007012" - "MESH:D016643" - "MEDGEN:138163" - "MedDRA:10064199" - "NCIt:C26802" - "GARD:9550" - "MeSH:D016643" - "ICD10CM:A81.01" - "ICD9:046.11" - "SCTID:304603007" - "NANDO:1200194" - "DOID:5435" - "NCIT:C128438" - "Orphanet:576370" - "icd11.foundation:378572696" - "SNOMEDCT:304603007" - "UMLS:C0376329" - "NCIT:C26802" "Orphanet:231692" "SCTID:234533006" "GARD:3921" @@ -7700,6 +7667,24 @@ "DOID:13574" "SCTID:78875003" "UMLS:C0154980" + "MONDO:0007012" + "MESH:D016643" + "MEDGEN:138163" + "MedDRA:10064199" + "NCIt:C26802" + "GARD:9550" + "MeSH:D016643" + "ICD10CM:A81.01" + "ICD9:046.11" + "SCTID:304603007" + "NANDO:1200194" + "DOID:5435" + "NCIT:C128438" + "Orphanet:576370" + "icd11.foundation:378572696" + "SNOMEDCT:304603007" + "UMLS:C0376329" + "NCIT:C26802" "PMID:35347128" "ICD10:Q92.3" "OMIM:300696" @@ -7746,8 +7731,8 @@ "MESH:D007668" "CALOHA:TS-0510" "Wikipedia:Kidney" - "GAID:423" "MAT:0000119" + "GAID:423" "AAO:0000250" "NCIt:C41009" "NCIT:C41009" @@ -7982,6 +7967,7 @@ "OMIM:251220" "UMLS:C0796061" "ICD10:Q87.8" + "PMID:29875488" "SNOMEDCT_US:247177004" "UMLS:C0521683" "Orphanet:306658" @@ -7991,7 +7977,6 @@ "DOID:0080170" "GARD:10878" "UMLS:C1864861" - "PMID:29875488" "UMLS:CN226645" "Orphanet:117573" "PMID:37794183" @@ -8089,11 +8074,11 @@ "OMIM:307300" "GTR:AN0098649" "SCTID:122811000119101" + "PMID:34128465" "MEDGEN:1773574" "OMIM:618970" "UMLS:C5436505" "PMID:36168886" - "PMID:34128465" "Orphanet:308473" "GARD:17392" "MEDGEN:657805" @@ -8259,9 +8244,9 @@ "UMLS:C4518783" "Orphanet:397941" "SCTID:733450008" + "PMID:23823483" "GO:0008150" "MeSH:D055705" - "PMID:23823483" "NCIt:C50474" "MedDRA:10006101" "UMLS:C3280240" @@ -8272,10 +8257,10 @@ "UMLS:C3278138" "MEDGEN:479768" "ICD10:Q93.5" + "SNOMEDCT:109409003" "CLO:0006950" "RRID:CVCL_1306" "BTO:0005846" - "SNOMEDCT:109409003" "PMID:35347128" "OMIM:616882" "OMIM:615224" @@ -8569,6 +8554,13 @@ "ICD10:H35.5" "UMLS:C0017574" "SNOMEDCT_US:66383009" + "DOID:0111938" + "MEDGEN:863054" + "Orphanet:420573" + "GARD:17696" + "UMLS:C4014617" + "OMIM:615897" + "SCTID:763623001" "MeSH:D052245" "OMIM:612632" "OMIM:602083" @@ -8589,13 +8581,6 @@ "OMIM:605472" "OMIM:614504" "ICD10:H35.5" - "DOID:0111938" - "MEDGEN:863054" - "Orphanet:420573" - "GARD:17696" - "UMLS:C4014617" - "OMIM:615897" - "SCTID:763623001" "MEDGEN:1804547" "NANDO:2100248" "SCTID:95643007" @@ -8880,18 +8865,18 @@ "PMID:22770225" "PMID:37794183" "PMID:35050183" - "NCIT:C82981" - "UMLS:C0040262" - "MONDO:0005915" - "MESH:D014010" "ICD9:111.0" - "icd11.foundation:67108853" - "SCTID:56454009" + "MeSH:D014010" "MEDGEN:11826" "DOID:9060" + "MONDO:0005915" + "SCTID:56454009" + "NCIT:C82981" "ICD10CM:B36.0" + "icd11.foundation:67108853" + "MESH:D014010" "MedDRA:10035117" - "MeSH:D014010" + "UMLS:C0040262" "UMLS:C1861171" "ICD9:289.81" "MESH:D020016" @@ -9134,11 +9119,11 @@ "icd11.foundation:570001324" "Orphanet:102009" "NANDO:1201069" - "PMID:29875488" "ICD10:H50" "UMLS:C0038379" "SNOMEDCT_US:22066006" "SNOMEDCT_US:128602000" + "PMID:29875488" "PMID:28878392" "NANDO:1200835" "UMLS:C2752027" @@ -9213,7 +9198,6 @@ "NCIt:C28949" "Reaxys:3575322" "VSDB:2970" - "Beilstein:3575322" "EMAPA:28275" "ZFA:0005308" "FMA:77043" @@ -9269,7 +9253,6 @@ "KEGG:C00180" "MetaCyc:BENZOATE" "HMDB:HMDB0001870" - "Beilstein:1862486" "UM-BBD_compID:c0121" "Gmelin:2945" "PMID:29875488" @@ -9318,7 +9301,6 @@ "MetaCyc:OXALACETIC_ACID" "LIPID_MAPS_instance:LMFA01170061" "PMID:28322963" - "Beilstein:1705475" "CAS:328-42-7" "Gmelin:1042886" "KEGG:C00036" @@ -9388,8 +9370,8 @@ "MESH:D015439" "UMLS:C0575897" "SNOMEDCT_US:299130003" - "MeSH:D013952" "NCIT:C126349" + "MeSH:D013952" "MESH:D014314" "NCIT:C3421" "MEDGEN:21702" @@ -9451,8 +9433,8 @@ "NCIT:C119043" "UMLS:C2673198" "MEDGEN:435869" - "PMID:30053915" "PMID:37794183" + "PMID:30053915" "MEDGEN:1714019" "Orphanet:589435" "UMLS:C5394555" @@ -9509,11 +9491,11 @@ "ICD10:G71.3" "UMLS:C0162671" "PMID:29875488" - "PMID:35347128" "OMIMPS:206100" "MESH:C567144" "UMLS:C2673913" "MEDGEN:388759" + "PMID:35347128" "UMLS:C1851526" "GARD:9707" "OMIM:132700" @@ -9699,7 +9681,6 @@ "Drug_Central:1879" "Gmelin:1228044" "MeSH:D009277" - "Beilstein:2055849" "Reaxys:2055849" "HMDB:HMDB0002725" "PMID:19055689" @@ -9976,11 +9957,6 @@ "ICD10:S74" "NCIt:C66565" "SNOMEDCT:102261002" - "NCIT:C5327" - "NCIt:C5327" - "MEDGEN:232588" - "MONDO:0006239" - "UMLS:C1333944" "MEDGEN:167070" "SCTID:718189004" "OMIM:179613" @@ -9988,6 +9964,11 @@ "GARD:9698" "Orphanet:96167" "UMLS:C0795822" + "NCIT:C5327" + "NCIt:C5327" + "MEDGEN:232588" + "MONDO:0006239" + "UMLS:C1333944" "DOID:0050463" "MeSH:D055036" "OMIM:114290" @@ -10087,7 +10068,6 @@ "Reaxys:102551" "PMID:18044507" "PMID:14550759" - "Beilstein:102551" "Wikipedia:1,4-Dioxane" "PPDB:1638" "DrugBank:DB03316" @@ -10419,7 +10399,6 @@ "KNApSAcK:C00026453" "PMID:11982504" "KEGG:C01717" - "Beilstein:147451" "PMID:19187269" "PMID:7882580" "PMID:10088651" @@ -10492,11 +10471,11 @@ "OMIM:608203" "MEDGEN:374920" "MESH:C564275" - "PMID:33634981" "GARD:19241" "Orphanet:93947" "MEDGEN:1842639" "UMLS:C5681614" + "PMID:33634981" "MEDGEN:1383455" "GARD:21141" "Orphanet:289513" @@ -10688,9 +10667,9 @@ "UMLS:C0398623" "MESH:D019851" "MedDRA:10057396" + "PMID:35347128" "NCIt:C3480" "UMLS:C0263218" - "PMID:35347128" "Orphanet:98721" "HP:0001702" "GARD:19555" @@ -11080,6 +11059,7 @@ "ICD10:Q01.2" "ICD10:Q01.1" "ICD10:Q01.0" + "PMID:35347128" "Wikipedia:Pityriasis_rosea" "NCIT:C26855" "ICD10CM:L42" @@ -11093,7 +11073,6 @@ "DOID:8892" "ICD9:696.3" "MESH:D017515" - "PMID:35347128" "icd11.foundation:237039059" "DOID:0110826" "SCTID:232057003" @@ -11105,11 +11084,6 @@ "NANDO:1200942" "UMLS:C1568247" "ICD10:K76.8" - "UMLS:C1862840" - "OMIM:614149" - "OMIM:107000" - "MeSH:C536378" - "ICD10:Q84.3" "RRID:CVCL_Z232" "NCIt:C111071" "CLO:0008922" @@ -11130,6 +11104,11 @@ "NCIT:C84542" "MedDRA:10013976" "MESH:D000377" + "UMLS:C1862840" + "OMIM:614149" + "OMIM:107000" + "MeSH:C536378" + "ICD10:Q84.3" "PMID:34503513" "PMID:23443545" "UMLS:C0228411" @@ -11394,8 +11373,6 @@ "NORD:1215" "RRID:CVCL_C521" "PMID:2426151" - "MeSH:D048372" - "SNOMEDCT:114002007" "Orphanet:139411" "MESH:C565803" "SCTID:733492003" @@ -11404,6 +11381,8 @@ "ICD10:D44.8" "NCIT:C94833" "UMLS:C1858592" + "MeSH:D048372" + "SNOMEDCT:114002007" "PMID:28800628" "DMBA:17091" "EMAPA:16294" @@ -11791,6 +11770,7 @@ "MeSH:D003286" "MedDRA:10061785" "SNOMEDCT:57048009" + "PMID:28240269" "DOID:6244" "UMLS:C0879606" "MEDGEN:209307" @@ -11808,7 +11788,6 @@ "MEDGEN:355084" "SCTID:720511000" "UMLS:C1863878" - "PMID:28240269" "SNOMEDCT:38151008" "NCIt:C64840" "MEDGEN:82706" @@ -12221,7 +12200,6 @@ "OMIM:615349" "ICD10:Q79.6" "Reaxys:6116536" - "Beilstein:6116536" "MetaCyc:CPD-14292" "Gmelin:385960" "OMIM:618089" @@ -12264,12 +12242,15 @@ "OMIM:180870" "KEGG COMPOUND:C00322" "HMDB:0000225" - "PMID:29875488" "UMLS:C3554576" "GARD:17528" "Orphanet:352712" "OMIM:615139" "MEDGEN:767490" + "OMIM:618850" + "MEDGEN:1719306" + "UMLS:C5394277" + "DOID:0060950" "MEDGEN:87660" "UMLS:C0376175" "SCTID:193093009" @@ -12283,12 +12264,9 @@ "MedDRA:10016060" "ICD10CM:G51.0" "MONDO:0005665" - "OMIM:618850" - "MEDGEN:1719306" - "UMLS:C5394277" - "DOID:0060950" "SNOMEDCT_US:70992005" "UMLS:C0152252" + "PMID:29875488" "MAT:0000343" "XAO:0000209" "TAO:0000190" @@ -12368,7 +12346,6 @@ "Reaxys:54612" "DrugBank:DB00131" "PMID:22215671" - "Beilstein:54612" "MetaCyc:AMP" "PMID:17439666" "PMID:12181610" @@ -12528,7 +12505,6 @@ "PMID:16690142" "PMID:16406588" "PMID:25155403" - "Beilstein:5444268" "PMID:16160767" "PMID:22447470" "PMID:15246549" @@ -12717,7 +12693,6 @@ "PMID:24252294" "PMID:24719616" "PMID:10052027" - "Beilstein:2212160" "PMID:22263916" "PMID:21908494" "PMID:18273418" @@ -12764,7 +12739,6 @@ "PMID:22198456" "PMID:15845695" "CAS:61869-08-7" - "Beilstein:7467879" "PMID:15241233" "PMID:14673053" "Reaxys:7467879" @@ -12824,7 +12798,6 @@ "MEDGEN:904038" "Orphanet:281090" "GARD:17302" - "Beilstein:774618" "Reaxys:774618" "PMID:22264337" "CAS:617-45-8" @@ -12858,11 +12831,11 @@ "DOID:0110819" "MEDGEN:1800260" "AAO:0000146" - "VHOG:0001145" "MA:0000255" "GAID:869" "EMAPA:17601" "EV:0100359" + "VHOG:0001145" "FMA:9705" "Wikipedia:Eustachian_tube" "XAO:0000213" @@ -12947,7 +12920,6 @@ "UMLS:C0270733" "MESH:D020955" "DOID:4751" - "KEGG:C17690" "SNOMEDCT:57406009" "MEDGEN:2856" "ICD9:354.0" @@ -12968,6 +12940,7 @@ "MESH:D002349" "NCIt:C34450" "ICD10:S54" + "KEGG:C17690" "Orphanet:435953" "DOID:0111264" "GARD:17722" @@ -12975,9 +12948,9 @@ "MEDGEN:863898" "OMIM:616200" "PMID:37794183" - "CLO:0037142" "BTO:0002381" "RRID:CVCL_1416" + "CLO:0037142" "KNApSAcK:C00007291" "Reaxys:3537113" "Gmelin:26434" @@ -12987,7 +12960,6 @@ "CAS:107-43-7" "Drug_Central:347" "PDBeChem:BET" - "Beilstein:3537113" "PMID:18326594" "KEGG:D07523" "YMDB:YMDB01516" @@ -13346,10 +13318,6 @@ "MONDO:0005009" "UMLS:C1859523" "BTO:0001265" - "MeSH:C557675" - "MedDRA:10010654" - "ICD10:Q32.0" - "UMLS:C0392109" "PMID:24478225" "Patent:US4009197" "KEGG:D00118" @@ -13363,6 +13331,10 @@ "HMDB:HMDB0001923" "LINCS:LSM-5689" "DrugBank:DB00788" + "MeSH:C557675" + "MedDRA:10010654" + "ICD10:Q32.0" + "UMLS:C0392109" "NCIT:C12759" "BIRNLEX:1319" "UMLS:C1268984" @@ -13445,7 +13417,6 @@ "PMID:20511543" "KNApSAcK:C00007382" "PMID:9784247" - "Beilstein:471803" "PMID:22321994" "HMDB:HMDB0001123" "PMID:19745702" @@ -13602,7 +13573,6 @@ "PDBeChem:CFA" "PMID:17568655" "MetaCyc:CPD-9009" - "Beilstein:1214242" "GARD:3436" "NCIT:C98978" "ICD9:759.89" @@ -13699,18 +13669,18 @@ "Wikipedia:Citalopram" "KEGG COMPOUND:59729-33-8" "PMID:29453196" - "UMLS:C0009770" - "DOID:13800" "ICD9:077.0" + "MEDGEN:1095" "ICD9:077.98" + "MedDRA:10021629" "NCIT:C116817" - "MEDGEN:1095" - "MONDO:0005808" "MeSH:D003235" - "MedDRA:10021629" - "MESH:D003235" "ICD10CM:A74.0" + "MONDO:0005808" + "UMLS:C0009770" + "DOID:13800" "SCTID:231861005" + "MESH:D003235" "UMLS:C4021780" "DOID:409" "NCIt:C3196" @@ -13790,15 +13760,6 @@ "UMLS:C5774237" "OMIM:620085" "MEDGEN:1824010" - "SCTID:40055000" - "ICD9:473.9" - "UMLS:C0149516" - "MEDGEN:101751" - "MONDO:0006031" - "NCIT:C35151" - "icd11.foundation:1836987572" - "ICD9:473.8" - "PMID:25838086" "NCIT:C40164" "DOID:13951" "MEDGEN:275554" @@ -13818,6 +13779,15 @@ "Orphanet:89838" "UMLS:C3715082" "OMIM:601001" + "SCTID:40055000" + "ICD9:473.9" + "UMLS:C0149516" + "MEDGEN:101751" + "MONDO:0006031" + "NCIT:C35151" + "icd11.foundation:1836987572" + "ICD9:473.8" + "PMID:25838086" "PMID:21706015" "UMLS:C4551721" "Orphanet:642945" @@ -14010,9 +13980,9 @@ "NCIT:C78649" "MEDGEN:120507" "MONDO:0000471" - "PMID:35347128" "SNOMEDCT_US:55300003" "UMLS:C0026821" + "PMID:35347128" "ICD10CM:H35.5" "MESH:C536490" "GARD:15241" @@ -14105,7 +14075,6 @@ "SNOMEDCT:63318000" "YMDB:YMDB02301" "Drug_Central:4664" - "Beilstein:636131" "KEGG:D00038" "HMDB:HMDB0001870" "MetaCyc:BENZOATE" @@ -14159,7 +14128,6 @@ "UMLS:C0023348" "MONDO:0005127" "MESH:D015440" - "PMID:35995766" "PMID:35050183" "FBbt:00005551" "GARD:4069" @@ -14170,6 +14138,7 @@ "Orphanet:2920" "SCTID:721017000" "UMLS:C1850320" + "PMID:35995766" "NCIt:C73425" "Wikipedia:Sleep" "MeSH:D012890" @@ -14247,7 +14216,6 @@ "PPDB:1309" "KEGG:D03200" "PMID:7096503" - "Beilstein:969148" "PDBeChem:1BO" "HMDB:HMDB0004327" "Gmelin:25753" @@ -14559,7 +14527,6 @@ "DOID:7922" "UMLS:C1334679" "PMID:21514197" - "PMID:29875488" "NCIt:C35034" "MedDRA:10041676" "UMLS:C0038018" @@ -14579,6 +14546,7 @@ "MEDGEN:461477" "OMIM:615992" "UMLS:C3150127" + "PMID:29875488" "PMID:29875488" "UMLS:C1291245" "Orphanet:168588" @@ -14684,13 +14652,13 @@ "NCIt:C25989" "OMIM:613672" "ICD10:G11.4" + "OMIM:616335" + "OMIM:251270" + "ICD10:Q87.8" "SCTID:126909004" "UMLS:C1263777" "NCIT:C6300" "MEDGEN:226810" - "OMIM:616335" - "OMIM:251270" - "ICD10:Q87.8" "PMID:19704561" "BPDB:2440" "KEGG:C08491" @@ -15121,11 +15089,9 @@ "PMID:14962054" "PMID:19536276" "KEGG:D00110" - "Beilstein:5291037" "Beilstein:3621912" "Wikipedia:Cocaine" "SNOMEDCT:14816004" - "Beilstein:91034" "PMID:21150772" "SNOMEDCT:387085005" "PMID:11853120" @@ -15234,7 +15200,6 @@ "RRID:CVCL_0434" "PMID:35347128" "Gmelin:363895" - "Beilstein:3905193" "Reaxys:3905193" "MetaCyc:CPD-205" "EFO:0000595" @@ -15280,14 +15245,15 @@ "MEDGEN:1641265" "Orphanet:464336" "OMIM:616452" + "PMID:37794183" "MA:0000354" "NCIT:C12376" "MESH:D001652" "GAID:280" "XAO:0000134" "Wikipedia:Bile_duct" - "BTO:0000122" "SCTID:276157007" + "BTO:0000122" "ZFA:0001100" "EMAPA:35171" "CALOHA:TS-0075" @@ -15297,7 +15263,6 @@ "TAO:0001100" "UMLS:C0005400" "FMA:9706" - "PMID:37794183" "SNOMEDCT_US:77507001" "UMLS:C0155552" "UMLS:C0751255" @@ -15374,7 +15339,6 @@ "DrugBank:DB00586" "PDBeChem:DIF" "LINCS:LSM-2160" - "Beilstein:2146636" "KEGG:C01690" "PMID:27967303" "NCIt:C28985" @@ -15644,9 +15608,9 @@ "PMID:25985088" "PMID:35995766" "PMID:28240269" + "PMID:35347128" "SNOMEDCT_US:204912007" "UMLS:C0431659" - "PMID:35347128" "OMIM:101900" "Wikipedia:Darier%27s_disease" "UMLS:C0022595" @@ -15660,12 +15624,12 @@ "DOID:14759" "UMLS:C0268340" "SCTID:70610001" + "OMIM:233430" + "ICD10:Q99.1" "OMIM:613986" "MEDGEN:462790" "GARD:16520" "UMLS:C3151440" - "OMIM:233430" - "ICD10:Q99.1" "UMLS:C5680204" "GARD:18983" "Orphanet:79298" @@ -15822,7 +15786,6 @@ "PMID:17085324" "CAS:764-22-7" "PMID:7819132" - "Beilstein:1724230" "Reaxys:1724230" "KEGG:C00836" "KNApSAcK:C00007540" @@ -16045,7 +16008,6 @@ "DOID:0060173" "CAS:499-12-7" "Reaxys:1725828" - "Beilstein:1725828" "PMID:25011271" "PMID:24702026" "PMID:24710945" @@ -16431,7 +16393,6 @@ "Patent:US4556518" "Wikipedia:Isotretinoin" "Drug_Central:1508" - "Beilstein:1885770" "LIPID_MAPS_instance:LMPR01090021" "PMID:18077132" "DrugBank:DB00982" @@ -16547,7 +16508,6 @@ "Patent:EP459136" "SNOMEDCT:108587008" "KEGG:C07468" - "Beilstein:6377719" "LINCS:LSM-5903" "MeSH:C081643" "PMID:23713902" @@ -16634,12 +16594,12 @@ "PMID:35347128" "UMLS:C0016199" "SNOMEDCT_US:247355005" + "SCTID:705098005" + "Wikipedia:Pars_interarticularis" "UMLS:C1334646" "NCIT:C6839" "DOID:8093" "MEDGEN:235306" - "SCTID:705098005" - "Wikipedia:Pars_interarticularis" "icd11.foundation:722703441" "Orphanet:262869" "MEDGEN:315659" @@ -16920,6 +16880,14 @@ "UMLS:C1857277" "OMIM:222448" "MeSH:C536390" + "UMLS:C0541767" + "UMLS:C5671327" + "Orphanet:860" + "NANDO:1200698" + "GARD:5476" + "DOID:0060770" + "MEDGEN:1812310" + "OMIMPS:608808" "SNOMEDCT:58762006" "icd11.foundation:689481271" "MedDRA:10051818" @@ -16932,14 +16900,6 @@ "UMLS:C0014068" "MEDGEN:4936" "NCIt:C98920" - "UMLS:C0541767" - "UMLS:C5671327" - "Orphanet:860" - "NANDO:1200698" - "GARD:5476" - "DOID:0060770" - "MEDGEN:1812310" - "OMIMPS:608808" "SNOMEDCT:8455004" "FMA:59155" "MESH:D001050" @@ -17018,19 +16978,19 @@ "OMIM:155050" "MedDRA:10075843" "ICD10:Q75.8" + "PMID:37164013" + "UMLS:C4022996" "UMLS:CN228933" "Orphanet:140477" - "UMLS:C4022996" - "PMID:37164013" "GARD:18448" "MEDGEN:1779962" "OMIM:619175" "DOID:0060919" "UMLS:C5543027" - "PMID:35347128" "UMLS:C5436756" "OMIM:619080" "MEDGEN:1742639" + "PMID:35347128" "EV:0100027" "FMA:3734" "galen:Aorta" @@ -17117,19 +17077,18 @@ "ICD10:Q79.6" "OMIM:130060" "PMID:28240269" + "BTO:0002362" "OMIMPS:220110" "MEDGEN:1842606" "UMLS:C5680922" "Orphanet:231117" "GARD:20600" - "BTO:0002362" "PMID:27571552" "PMID:37794183" "PMID:29875488" "HMDB:HMDB0004824" "Reaxys:47545" "CAS:2140-67-2" - "Beilstein:47545" "PMID:22770225" "PMID:37794183" "SNOMEDCT_US:195021004" @@ -17224,7 +17183,6 @@ "Reaxys:1724689" "MetaCyc:CYS-GLY" "HMDB:HMDB0000078" - "Beilstein:1724689" "Gmelin:83158" "DOID:0040097" "MEDGEN:730236" @@ -17425,7 +17383,6 @@ "Wikipedia:Naphthalene" "PMID:17850896" "PMID:26875834" - "Beilstein:1421310" "PMID:27439360" "HMDB:HMDB0029751" "PPDB:1312" @@ -17488,17 +17445,16 @@ "NCIt:C72015" "MeSH:D027723" "PMID:37794183" - "Wikipedia:Acetyllysine" - "PDBeChem:ALY" + "PMID:1285645" "PMID:9169194" + "Reaxys:1725438" "PMID:6790164" - "PMID:1285645" - "KEGG:C02727" "MetaCyc:CPD-567" - "Reaxys:1725438" - "Beilstein:1725438" - "Gmelin:747339" "CAS:692-04-6" + "Wikipedia:Acetyllysine" + "Gmelin:747339" + "KEGG:C02727" + "PDBeChem:ALY" "HMDB:HMDB0000206" "Orphanet:370959" "MEDGEN:120617" @@ -17552,8 +17508,8 @@ "OMIM:620089" "PMID:34814699" "PMID:24816252" - "MEDGEN:458884" "Orphanet:497188" + "MEDGEN:458884" "NCIT:C94764" "GARD:0013075" "MONDO:0006033" @@ -17572,7 +17528,6 @@ "OMIM:233430" "MEDGEN:344696" "Orphanet:1770" - "PMID:29875488" "MEDGEN:375481" "GARD:2580" "icd11.foundation:118076382" @@ -17582,6 +17537,7 @@ "SCTID:715426004" "UMLS:C1844671" "UMLS:C1865916" + "PMID:29875488" "MEDGEN:235326" "DOID:4892" "NCIT:C6848" @@ -17761,6 +17717,7 @@ "ICD10:Q78.4" "OMIM:614569" "NCIT:C3213" + "PMID:21962510" "GARD:498" "DOID:5768" "SCTID:35520007" @@ -17777,7 +17734,6 @@ "OMIM:618822" "SNOMEDCT:83327008" "MeSH:D002107" - "PMID:21962510" "HP:0006528" "MedDRA:10083002" "SNOMEDCT:413839001" @@ -17799,9 +17755,9 @@ "UMLS:C4225172" "UMLS:C0265328" "OMIM:203600" + "PMID:23823483" "UMLS:C0200695" "NCIt:C92262" - "PMID:23823483" "BTO:0002555" "UBERON:0000939" "SNOMEDCT:3352000" @@ -17844,10 +17800,10 @@ "OMIM:619112" "GARD:18268" "BTO:0004721" - "PMID:35347128" "BTO:0002419" "RRID:CVCL_0033" "CLO:0037295" + "PMID:35347128" "MONDO:0005641" "SCTID:62251004" "MeSH:D000453" @@ -18027,7 +17983,6 @@ "Reaxys:9181215" "Patent:US2011294720" "Wikipedia:Apratoxin_A" - "Beilstein:9181215" "MeSH:C442201" "PMID:18461997" "PMID:11389621" @@ -18483,11 +18438,11 @@ "NCIt:C26976" "OMIM:238320" "ICD10:Q56.1" - "PMID:29875488" "PMID:33430342" "SNOMEDCT_US:87065009" "MEDDRA:10028698" "UMLS:C0221260" + "PMID:29875488" "UMLS:C1857068" "OMIM:224800" "MESH:C565606" @@ -18530,9 +18485,9 @@ "CASRN:308079-78-9" "OMIM:191160" "PMID:29875488" + "PMID:33634981" "UMLS:C0268800" "NCIt:C123173" - "PMID:33634981" "MONDO:0006059" "UMLS:C0280333" "MEDGEN:79104" @@ -18609,9 +18564,9 @@ "OMIM:300257" "NCIt:C17651" "MeSH:D049629" - "MedDRA:10060734" "Wikipedia:Diabetic_foot" "MeSH:D017719" + "MedDRA:10060734" "PMID:23871666" "MESH:D009456" "icd11.foundation:679913930" @@ -18662,7 +18617,6 @@ "PMID:22054289" "PMID:22917222" "PMID:22967374" - "Beilstein:5687925" "PMID:22580751" "PMID:23109844" "PMID:23059828" @@ -18736,8 +18690,8 @@ "UMLS:C5235139" "GARD:16942" "Orphanet:101010" - "SCTID:19968009" "MeSH:D042101" + "SCTID:19968009" "DOID:2828" "MEDGEN:82762" "NCIT:C35578" @@ -19039,6 +18993,7 @@ "MEDGEN:356389" "OMIM:602092" "UMLS:C1865870" + "PMID:31551469" "ONCOTREE:TRCC" "MEDGEN:235005" "DOID:0081415" @@ -19047,12 +19002,10 @@ "NCIT:C27891" "MONDO:0006397" "ICDO:0000/0" - "PMID:31551469" "PMID:37794183" "HMDB:HMDB0000005" "MetaCyc:2-OXOBUTANOATE" "UM-BBD_compID:c0360" - "Beilstein:3601760" "Reaxys:3601760" "KEGG:C00109" "Gmelin:899148" @@ -19286,8 +19239,8 @@ "BTO:0001426" "MA:0000379" "VHOG:0001264" - "MAT:0000121" "FMA:19667" + "MAT:0000121" "EV:0100099" "galen:Urethra" "SNOMEDCT_US:233703007" @@ -19780,7 +19733,6 @@ "Reaxys:2807677" "CAS:53-96-3" "PMID:21668357" - "Beilstein:2807677" "NCIt:C29791" "PMID:17434228" "PMID:23536516" @@ -19846,7 +19798,6 @@ "PMID:1170010" "KEGG:C08316" "Gmelin:177365" - "Beilstein:1728049" "CAS:112-86-7" "SNOMEDCT:6042001" "MedDRA:10059259" @@ -20066,7 +20017,6 @@ "UMLS:C1959582" "CAS:59-48-3" "PMID:24500796" - "Beilstein:114692" "Gmelin:637057" "PMID:24433962" "Reaxys:114692" @@ -20461,11 +20411,9 @@ "TGMA:0000124" "ZFA:0009008" "Gmelin:335122" - "Beilstein:3589340" "Reaxys:3589340" "KEGG:C06424" "Reaxys:74351" - "Beilstein:74351" "PMID:14977878" "HMDB:HMDB0001008" "Wikipedia:Biliverdin" @@ -20894,8 +20842,8 @@ "NCIT:C3248" "NANDO:2100200" "NANDO:2200692" - "EFO:1000340" "MEDGEN:313374" + "EFO:1000340" "UMLS:C1708792" "NCIT:C45519" "MONDO:0006283" @@ -20942,13 +20890,13 @@ "OMIM:104200" "DOID:0110032" "GARD:624" - "MESH:D018321" "UMLS:C0206730" "NCIT:C7018" "MEDGEN:64641" "ICDO:9562/0" "MONDO:0006317" "EFO:1000394" + "MESH:D018321" "DOID:0110779" "MEDGEN:332174" "Orphanet:101008" @@ -20996,16 +20944,16 @@ "ICD10:H35.5" "OMIM:129200" "ICD10:Q82.8" + "UMLS:C1832408" + "MeSH:C536072" + "OMIM:601379" + "ICD10:Q87.0" "OMIM:194190" "MedDRA:10050361" "MeSH:C536740" "MeSH:D054877" "ICD10:Q93.3" "UMLS:C1956097" - "UMLS:C1832408" - "MeSH:C536072" - "OMIM:601379" - "ICD10:Q87.0" "UMLS:C0021655" "SNOMEDCT_US:48606007" "UMLS:C0796184" @@ -21048,7 +20996,6 @@ "UMLS:C1827970" "PMID:28369058" "PMID:37794183" - "Beilstein:1545756" "PPDB:154" "PMID:31152760" "SNOMEDCT:31480004" @@ -21170,8 +21117,8 @@ "ICD9:521.08" "MeSH:D017213" "DOID:14089" - "NCIt:C117181" "RRID:CVCL_1381" + "NCIt:C117181" "BTO:0004151" "SCTID:240372001" "MONDO:0005725" @@ -21333,7 +21280,6 @@ "PMID:17439666" "PMID:16901854" "PMID:17979222" - "Beilstein:635685" "DrugBank:DB04077" "KEGG:D00028" "PMID:19184438" @@ -21399,10 +21345,10 @@ "UMLS:C5679811" "GARD:20503" "MEDGEN:1843053" - "OMIM:614122" "SNOMEDCT:90961003" "FMA:83542" "BTO:0003454" + "OMIM:614122" "PMID:9354455" "BTO:0001521" "MONDO:0001780" @@ -21614,8 +21560,8 @@ "EFO:0003825" "CALOHA:TS-1040" "FMA:72208" - "PMID:31467194" "PMID:37794183" + "PMID:31467194" "BTO:0004082" "CLO:0003659" "RRID:CVCL_2063" @@ -21905,16 +21851,16 @@ "BTO:0000573" "MAT:0000034" "MA:0000061" - "MEDGEN:220426" - "NCIT:C121619" - "UMLS:C1266158" - "ONCOTREE:NSGCT" "UMLS:C4280390" "SNOMEDCT_US:249339005" "UMLS:C0426436" "SNOMEDCT_US:249336003" "UMLS:C0426439" "UMLS:C1849366" + "MEDGEN:220426" + "NCIT:C121619" + "UMLS:C1266158" + "ONCOTREE:NSGCT" "icd11.foundation:1871996278" "MEDGEN:1826032" "Orphanet:262968" @@ -21986,7 +21932,6 @@ "Reaxys:1984981" "NCIt:C87471" "Patent:DE2343606" - "Beilstein:1984981" "Patent:US3948973" "SNOMEDCT:395957009" "Drug_Central:658" @@ -22021,6 +21966,8 @@ "MESH:D010468" "UMLS:C0030975" "PMID:33441150" + "PMID:37794183" + "Wikipedia:Pollination" "GARD:0006969" "NCIT:C4337" "icd11.foundation:1804127841" @@ -22040,8 +21987,6 @@ "SCTID:443487006" "Orphanet:52416" "ICD9:200.40" - "PMID:37794183" - "Wikipedia:Pollination" "UMLS:C1850268" "OMIM:258840" "GARD:8432" @@ -22253,7 +22198,6 @@ "DOID:0081295" "UMLS:C5394329" "MEDGEN:1711112" - "PMID:29875488" "MONDO:0018153" "NORD:1102" "MedDRA:10060801" @@ -22273,6 +22217,7 @@ "DOID:4329" "icd11.foundation:146718003" "ONCOTREE:ECD" + "PMID:29875488" "UMLS:C1866985" "OMIM:181515" "ICD10:Q87.8" @@ -22585,9 +22530,8 @@ "PMID:15317832" "PMID:19845735" "PMID:19559058" - "PMID:17207928" "MetaCyc:CPD-12479" - "Beilstein:13463" + "PMID:17207928" "PMID:11170036" "PMID:9256615" "DrugBank:DB00277" @@ -22753,7 +22697,6 @@ "MESH:C564948" "Orphanet:139578" "NCIt:C100438" - "Beilstein:8139626" "PMID:19935078" "PMID:12924710" "PMID:10471084" @@ -22821,9 +22764,9 @@ "EMAPA:32660" "EFO:0000867" "GAID:687" + "VHOG:0001295" "FMA:9589" "CALOHA:TS-1177" - "VHOG:0001295" "MESH:D008578" "NCIT:C5350" "MEDGEN:374834" @@ -22903,7 +22846,6 @@ "ICD10:Z52" "PDBeChem:GP9" "Reaxys:1723975" - "Beilstein:1723975" "PMID:1694860" "PMID:16745347" "PMID:19049970" @@ -22954,7 +22896,6 @@ "PMID:24145794" "PMID:17044778" "PMID:19249293" - "Beilstein:99188" "PMID:15542683" "PMID:16109423" "CAS:979-92-0" @@ -23097,7 +23038,6 @@ "Wikipedia:Sulindac" "PMID:19884509" "SNOMEDCT:89505005" - "Beilstein:2951842" "Patent:DE2039426" "KEGG:C01531" "Drug_Central:2534" @@ -23163,7 +23103,6 @@ "MEDGEN:78591" "GARD:16841" "UMLS:C0266283" - "NCIt:C5731" "UMLS:C1867801" "MEDGEN:401304" "MESH:C538278" @@ -23172,6 +23111,7 @@ "OMIM:176305" "GARD:4470" "DOID:0111544" + "NCIt:C5731" "MeSH:D003789" "CAS:732-11-6" "PPDB:521" @@ -23204,6 +23144,8 @@ "MEDGEN:462308" "PMID:29875488" "ZFA:0009352" + "https://biobank.ndph.ox.ac.uk/showcase/field.cgi?id=22330" + "NCIt:C83502" "ICD9:277.2" "MESH:C562583" "OMIM:300323" @@ -23213,8 +23155,6 @@ "SCTID:238007004" "Orphanet:79233" "GARD:16710" - "https://biobank.ndph.ox.ac.uk/showcase/field.cgi?id=22330" - "NCIt:C83502" "PMID:29875488" "NCIT:C6186" "DOID:6844" @@ -23284,13 +23224,13 @@ "MEDGEN:4122" "GARD:8194" "MedDRA:10011775" + "PMID:23823483" "SCTID:78999002" "UMLS:C0029119" "ICD9:118" "ICD9:117.9" "MEDGEN:508004" "DOID:2473" - "PMID:23823483" "MEDGEN:1381843" "SCTID:733091002" "UMLS:C4518577" @@ -23482,6 +23422,9 @@ "MEDGEN:349229" "PMID:31530798" "DOID:0050703" + "BTO:0005046" + "BTO:0000023" + "RRID:CVCL_8890" "MONDO:0005819" "NCIT:C26895" "ICD9:012.31" @@ -23494,9 +23437,6 @@ "ICD9:012.30" "DOID:1583" "UMLS:C0041315" - "BTO:0005046" - "BTO:0000023" - "RRID:CVCL_8890" "UMLS:C1370503" "NCIT:C5790" "DOID:7233" @@ -23608,7 +23548,6 @@ "LIPID_MAPS_instance:LMFA01170009" "PMID:22242741" "PMID:9591306" - "Beilstein:1782580" "Reaxys:1782580" "PMID:19428350" "PMID:2302418" @@ -23629,13 +23568,6 @@ "SCTID:126635000" "NCIT:C3260" "PMID:30450575" - "MEDGEN:383840" - "UMLS:C1856127" - "GARD:10045" - "Orphanet:79303" - "OMIM:235555" - "DOID:0111069" - "MESH:C535443" "MONDO:0006801" "UMLS:C0020876" "NCIT:C3130" @@ -23644,6 +23576,13 @@ "DOID:10156" "SCTID:126835002" "EFO:1000981" + "MEDGEN:383840" + "UMLS:C1856127" + "GARD:10045" + "Orphanet:79303" + "OMIM:235555" + "DOID:0111069" + "MESH:C535443" "UMLS:C4023681" "Orphanet:182127" "GARD:2005" @@ -23871,8 +23810,8 @@ "MA:0000333" "XAO:0000131" "CALOHA:TS-1306" - "Wikipedia:Large_intestine_(anatomy)" "UMLS:C0021851" + "Wikipedia:Large_intestine_(anatomy)" "MESH:D007420" "MIAA:0000046" "PMID:37794183" @@ -23946,7 +23885,6 @@ "PMID:22120518" "PMID:22685418" "PMID:11279060" - "Beilstein:606623" "PMID:22171528" "PMID:16834123" "KEGG:C00106" @@ -24092,7 +24030,6 @@ "PMID:11349957" "SNOMEDCT:22065005" "PMID:21777615" - "Beilstein:3590305" "KEGG:C14701" "PMID:21429624" "NCIt:C2803" @@ -24451,23 +24388,23 @@ "UMLS:C0020490" "PMID:35347128" "PMID:26068415" - "OMIM:105400" - "OMIM:614373" - "OMIM:614808" - "OMIM:205100" + "OMIMPS:105400" "OMIM:615426" - "MedDRA:10077024" - "OMIM:614696" - "MEDGEN:1642547" "UMLS:C4551993" - "OMIM:615515" "OMIM:612577" - "OMIMPS:105400" "OMIM:612069" - "MONDO:0005144" - "OMIM:613954" - "OMIM:613435" "OMIM:300857" + "MEDGEN:1642547" + "OMIM:614373" + "OMIM:205100" + "OMIM:614808" + "OMIM:615515" + "MedDRA:10077024" + "OMIM:613435" + "OMIM:613954" + "OMIM:614696" + "MONDO:0005144" + "OMIM:105400" "PMID:35347128" "PMID:23823483" "BTO:0001588" @@ -24477,8 +24414,8 @@ "MEDGEN:815853" "OMIM:615439" "DOID:0110025" - "PMID:35347128" "UMLS:C4021601" + "PMID:35347128" "ICDO:8244/3" "NCIT:C4139" "MEDGEN:83124" @@ -24835,6 +24772,11 @@ "NCIT:C118423" "GARD:1051" "OMIM:114000" + "SCTID:725045004" + "MEDGEN:1388250" + "Orphanet:251510" + "GARD:17211" + "UMLS:C4510744" "UMLS:C1838979" "MEDGEN:374101" "DOID:0060536" @@ -24842,11 +24784,6 @@ "NANDO:1200180" "GARD:3908" "MESH:C537475" - "SCTID:725045004" - "MEDGEN:1388250" - "Orphanet:251510" - "GARD:17211" - "UMLS:C4510744" "SCTID:764435003" "MEDGEN:482767" "OMIM:614526" @@ -24925,11 +24862,11 @@ "GARD:18747" "Orphanet:1772" "PMID:28240269" - "PMID:21085120" "Orphanet:397695" "UMLS:C4749427" "MEDGEN:1651953" "GARD:21633" + "PMID:21085120" "ICD10CM:I86.2" "DOID:9742" "MEDGEN:510082" @@ -25118,8 +25055,8 @@ "LIPID_MAPS_instance:LMST01030103" "KEGG:C15787" "CAS:474-60-2" - "NCIt:C4204" "Orphanet:306486" + "NCIt:C4204" "DOID:4975" "MESH:D000189" "MeSH:D000189" @@ -25492,8 +25429,8 @@ "UMLS:C2931483" "MeSH:C537399" "PMID:29875488" - "PMID:23823483" "PMID:28240269" + "PMID:23823483" "NCIt:C135440" "UMLS:C0200642" "OMIM:610370" @@ -25949,8 +25886,8 @@ "NCIT:C4786" "ICD9:294.1" "ICD9:294.8" - "SCTID:52448006" "UMLS:C0497327" + "SCTID:52448006" "ICD9:290.8" "HP:0000726" "icd11.foundation:546689346" @@ -26092,13 +26029,13 @@ "ICD9:371.56" "Orphanet:101068" "MEDGEN:400601" - "Orphanet:519302" "Orphanet:2549" "MEDGEN:67392" "GARD:3653" "SCTID:726722009" "UMLS:C0220681" "OMIM:141400" + "Orphanet:519302" "UMLS:C5193057" "GARD:18018" "MEDGEN:1684142" @@ -26122,10 +26059,6 @@ "EMAPA:16240" "XAO:0000115" "MA:0000066" - "MEDGEN:1842248" - "GARD:21636" - "UMLS:C5681156" - "Orphanet:397802" "UMLS:C0041825" "SCTID:21426000" "DOID:5782" @@ -26134,6 +26067,10 @@ "MONDO:0003648" "MEDGEN:508258" "ICD9:384.9" + "MEDGEN:1842248" + "GARD:21636" + "UMLS:C5681156" + "Orphanet:397802" "SNOMEDCT:61449004" "NCIT:C168733" "DOID:0080676" @@ -26340,8 +26277,8 @@ "PMID:27160814" "ICD10:G12.2" "UMLS:C0393551" - "UMLS:C1390474" "PMID:29875488" + "UMLS:C1390474" "Orphanet:2338" "PMID:37794183" "OMIM:614195" @@ -26490,11 +26427,11 @@ "Reaxys:32385-58-3" "ChEMBL:1014759" "UMLS:C4024900" - "SNOMEDCT_US:80313002" - "UMLS:C0030252" "OMIM:185100" "UMLS:C1861449" "MEDGEN:350026" + "SNOMEDCT_US:80313002" + "UMLS:C0030252" "UMLS:C2827511" "NCIt:C84822" "EFO:1000435" @@ -26551,9 +26488,9 @@ "NCIT:C4397" "BTO:0002875" "RRID:CVCL_3871" + "PMID:10702418" "OMIM:614199" "ICD10:N04" - "PMID:10702418" "UMLS:C0685409" "SNOMEDCT_US:29271008" "UMLS:C0035615" @@ -27004,7 +26941,6 @@ "NCIt:C68507" "PMID:16611389" "PMID:5477017" - "Beilstein:84272" "SNOMEDCT:43706004" "PMID:19273781" "Reaxys:84272" @@ -27262,7 +27198,6 @@ "CAS:3025-95-4" "MetaCyc:CPD-580" "Reaxys:1704093" - "Beilstein:1704093" "KEGG:C01073" "SNOMEDCT:6435005" "CALOHA:TS-2006" @@ -27283,8 +27218,8 @@ "TAO:0005250" "ZFA:0005250" "PMID:37794183" - "PMID:24816252" "ZFA:0005004" + "PMID:24816252" "SNOMEDCT:432195008" "SNOMEDCT:3583002" "NCIt:C73851" @@ -27384,6 +27319,7 @@ "MEDGEN:152909" "NCIT:C9338" "EMAPA:17608" + "FMA:54375" "EHDAA2:0004104" "UMLS:C0027432" "VHOG:0000017" @@ -27397,7 +27333,6 @@ "AAO:0000559" "GAID:115" "MA:0000285" - "FMA:54375" "FMA:17558" "BTO:0001424" "WBbt:0006760" @@ -27518,10 +27453,10 @@ "RRID:CVCL_0126" "BTO:0003137" "CLO:0001421" + "PMID:29875488" "UMLS:C0282607" "MEDGEN:129202" "NCIT:C7388" - "PMID:29875488" "GARD:376" "SCTID:177504007" "MESH:C536014" @@ -27687,7 +27622,6 @@ "Wikipedia:Venlafaxine" "KEGG:C07187" "KEGG:D08670" - "Beilstein:4234848" "PMID:18321472" "Reaxys:4234848" "LINCS:LSM-1616" @@ -28118,10 +28052,6 @@ "CiteXplore:21569548" "CiteXplore:21414301" "CiteXplore:22087583" - "OMIM:224120" - "OMIM:615631" - "UMLS:C0271933" - "ICD10:D64.4" "NCIT:C6454" "MEDGEN:266099" "GARD:20892" @@ -28131,6 +28061,10 @@ "UMLS:C1266091" "Orphanet:263310" "HMDB:HMDB0010402" + "OMIM:224120" + "OMIM:615631" + "UMLS:C0271933" + "ICD10:D64.4" "Wikipedia:Germplasm" "NCIt:C313" "MeSH:D001761" @@ -28249,12 +28183,6 @@ "ICD10:Q87.8" "OMIM:612916" "PMID:35347128" - "DOID:4876" - "EFO:1000599" - "MONDO:0003184" - "NCIT:C9347" - "UMLS:C1744708" - "MEDGEN:315650" "SCTID:717010007" "GARD:1250" "Orphanet:99937" @@ -28267,6 +28195,12 @@ "KEGG:C12600" "Beilstein:326470" "Drug_Central:3439" + "DOID:4876" + "EFO:1000599" + "MONDO:0003184" + "NCIT:C9347" + "UMLS:C1744708" + "MEDGEN:315650" "MedDRA:10010790" "ICD9:692.9" "DOID:2773" @@ -28317,6 +28251,7 @@ "MEDGEN:96562" "PMID:35347128" "PMID:37794183" + "PMID:37253714" "NCIT:C36626" "MESH:C580500" "MedDRA:10053884" @@ -28330,7 +28265,6 @@ "ICD9:758.2" "DOID:1085" "NORD:1797" - "PMID:37253714" "OMIM:203655" "MeSH:C537055" "UMLS:C0263505" @@ -28731,9 +28665,9 @@ "UMLS:C4540493" "MONDO:0060621" "OMIM:617802" + "PMID:29875488" "UMLS:C0522224" "SNOMEDCT_US:44695005" - "PMID:29875488" "MONDO:0005872" "SCTID:372063002" "ICD9:192.9" @@ -28745,7 +28679,6 @@ "ICD9:192" "MEDGEN:99231" "NCIT:C4788" - "NCIt:C7290" "UMLS:C1858392" "GARD:18179" "MESH:C565780" @@ -28759,6 +28692,7 @@ "Orphanet:2863" "UMLS:C1861448" "MEDGEN:350025" + "NCIt:C7290" "UMLS:C2827512" "NCIt:C84823" "UMLS:C1857527" @@ -28794,6 +28728,7 @@ "DOID:0070477" "Orphanet:459061" "OMIM:616901" + "NCIT:C16523" "MESH:C536606" "SCTID:109475005" "Orphanet:100033" @@ -28832,11 +28767,11 @@ "MedDRA:10038534" "ICD9:016.00" "SCTID:44323002" + "OMIM:605407" + "ICD10:G24.1" "ISBN-13:978-0632067107" "ISBN-10:0632067101" "ICD10:M72" - "OMIM:605407" - "ICD10:G24.1" "SNOMEDCT:133599002" "ZFA:0009333" "PMID:37794183" @@ -28845,6 +28780,8 @@ "OMIM:143050" "ICD10:Q74.0" "PMID:37794183" + "FBbt:00005567" + "VFB:FBbt_00001315" "MEDGEN:890580" "GARD:3360" "SCTID:145831000119103" @@ -28854,8 +28791,6 @@ "NCIT:C4925" "UMLS:C4048549" "GARD:0003360" - "FBbt:00005567" - "VFB:FBbt_00001315" "PMID:29875488" "SCTID:717821004" "GARD:17254" @@ -28973,9 +28908,9 @@ "PMID:11893576" "PMID:17020896" "PMID:9051670" - "PMID:15298493" - "PMID:11864786" "PMID:10557015" + "PMID:11864786" + "PMID:15298493" "PMID:12867293" "PMID:26365231" "Drug_Central:3281" @@ -28989,7 +28924,6 @@ "PMID:11387393" "KEGG:D00008" "MolBase:932" - "Beilstein:3587191" "PMID:8451754" "PMID:11809417" "KEGG:C00027" @@ -29042,10 +28976,6 @@ "Orphanet:293830" "Orphanet:118985" "OMIM:615982" - "GARD:17248" - "MEDGEN:1723926" - "Orphanet:261537" - "UMLS:C5437617" "MESH:D020760" "MedDRA:10054635" "DOID:324" @@ -29054,6 +28984,10 @@ "UMLS:C0752130" "MONDO:0020688" "MeSH:D020760" + "GARD:17248" + "MEDGEN:1723926" + "Orphanet:261537" + "UMLS:C5437617" "PMID:28240269" "TAO:0009167" "ZFA:0009167" @@ -29181,12 +29115,12 @@ "UMLS:C0239981" "SNOMEDCT_US:119247004" "SNOMEDCT:119247004" - "SCTID:255015006" "UMLS:C0346379" "DOID:6524" "ICD9:190.8" "MEDGEN:138062" "NCIT:C4558" + "SCTID:255015006" "MEDGEN:75545" "MESH:D020150" "MeSH:D020150" @@ -29274,21 +29208,20 @@ "DOID:3729" "NCIt:C82466" "ICD10:R99" - "PMID:22238669" - "PMID:16423555" - "PMID:21861612" - "PMID:22012195" "KEGG:C19178" - "PMID:23551873" + "Wikipedia:ENU" + "PMID:11880538" + "PMID:22012195" "PMID:8603364" - "CAS:759-73-9" - "PMID:11732210" - "Beilstein:1761174" + "PMID:16423555" "PMID:24175309" - "Reaxys:1761174" + "PMID:22238669" + "PMID:23551873" + "PMID:21861612" "PMID:11853764" - "PMID:11880538" - "Wikipedia:ENU" + "Reaxys:1761174" + "PMID:11732210" + "CAS:759-73-9" "UMLS:C2931888" "OMIM:101600" "MeSH:C538582" @@ -29547,7 +29480,6 @@ "Orphanet:93404" "UMLS:C1861366" "DOID:0111817" - "Beilstein:3730023" "Reaxys:3730023" "SCTID:40095003" "MedDRA:10061481" @@ -29705,14 +29637,14 @@ "UMLS:C2936739" "UMLS:C3489795" "PMID:29875488" + "OMIM:241550" + "MEDGEN:1646779" + "UMLS:C4551854" "UMLS:C1510796" "DOID:5623" "MEDGEN:267645" "NCIT:C40361" "ONCOTREE:MASC" - "OMIM:241550" - "MEDGEN:1646779" - "UMLS:C4551854" "MEDGEN:98" "NCIT:C34347" "SCTID:25904003" @@ -29909,8 +29841,8 @@ "EFO:1000344" "MONDO:0006284" "NCIT:C5907" - "MEDGEN:235287" "UMLS:C1334549" + "MEDGEN:235287" "PMID:36168886" "CAS:154-17-6" "PMID:17908557" @@ -30222,24 +30154,24 @@ "DOID:6067" "MEDGEN:235419" "PMID:29875488" - "PMID:35347128" "MESH:D011557" "MONDO:0005932" "UMLS:C0033839" "MeSH:D011557" "DOID:3902" "MEDGEN:18730" + "PMID:35347128" "CAS:147700-11-6" "Beilstein:8153842" "MeSH:C081320" - "UMLS:C0242422" - "SNOMEDCT_US:32798002" "OMIM:312080" "UMLS:C0205711" "MeSH:D020371" "MedDRA:10067610" "OMIM:213900" "ICD10:E75.2" + "UMLS:C0242422" + "SNOMEDCT_US:32798002" "UMLS:C1846357" "DOID:0070117" "GARD:8744" @@ -30569,7 +30501,6 @@ "PMID:20209561" "PMID:7542630" "CAS:2238-90-6" - "Beilstein:52571" "MetaCyc:PSYCHOSINE" "PMID:29351991" "HMDB:HMDB0000648" @@ -30579,11 +30510,11 @@ "Reaxys:52571" "PMID:21259322" "PMID:37794183" - "PMID:29875488" "GARD:18921" "Orphanet:73230" "MEDGEN:928495" "UMLS:C4302826" + "PMID:29875488" "SNOMEDCT:258720002" "NCIt:C48517" "MO:743" @@ -30712,12 +30643,12 @@ "OMIM:609128" "ICD10:Q68.8" "PMID:30659259" + "PMID:28240269" "NCIT:C4055" "UMLS:C0281784" "MEDGEN:129095" "SCTID:724171006" "DOID:4587" - "PMID:28240269" "NCIT:C32205" "EMAPA:35897" "FMA:15928" @@ -30807,7 +30738,6 @@ "OMIM:277480" "MeSH:D056729" "ICD10:D68.0" - "UMLS:C0343102" "MEDGEN:83415" "SCTID:254876005" "NCIT:C8107" @@ -30825,6 +30755,7 @@ "NCIT:C32223" "SCTID:304149004" "MIAA:0000151" + "UMLS:C0343102" "SNOMEDCT:11530004" "MeSH:D003922" "NCIt:C2986" @@ -31063,7 +30994,6 @@ "KEGG:D00168" "LINCS:LSM-5470" "KEGG:C02961" - "Beilstein:89175" "PMID:15492802" "DrugBank:DB00987" "Wikipedia:Cytarabine" @@ -31100,7 +31030,6 @@ "Patent:GB895309" "Patent:US3438991" "LINCS:LSM-3512" - "Beilstein:331267" "Drug_Central:1353" "SNOMEDCT:10756001" "Reaxys:331267" @@ -31203,7 +31132,6 @@ "Wikipedia:N-Methylformamide" "NCIt:C1163" "HMDB:HMDB0001122" - "Beilstein:1098352" "KEGG:C11489" "CAS:123-39-7" "PMID:24473177" @@ -31323,7 +31251,6 @@ "CiteXplore:22209975" "PMID:35668104" "PMID:31099426" - "Beilstein:5364666" "PMID:18062751" "KEGG:C08160" "PMID:12421104" @@ -31435,15 +31362,15 @@ "MEDGEN:376521" "Orphanet:100986" "HMDB:0041785" + "MEDGEN:1842770" + "Orphanet:1132" + "GARD:741" + "UMLS:C5680872" "NCIt:C29484" "PMID:815725" "MeSH:D010289" "MedDRA:10044107" "SNOMEDCT:225372007" - "MEDGEN:1842770" - "Orphanet:1132" - "GARD:741" - "UMLS:C5680872" "SCTID:47841006" "NCIT:C34837" "MEDGEN:6527" @@ -31466,8 +31393,8 @@ "OMIMPS:260370" "SCTID:719044008" "GARD:4203" - "NCIT:C2919" "OMIM:176807" + "NCIT:C2919" "DOID:2526" "MONDO:0005082" "SCTID:399490008" @@ -31673,6 +31600,9 @@ "MedDRA:10015991" "https://cellxgene.cziscience.com/cellguide/CL_0000860" "OMIM:300699" + "SCTID:91273001" + "MESH:D000140" + "DOID:3650" "ZFA:0005621" "EMAPA:35179" "MA:0002780" @@ -31685,9 +31615,6 @@ "FMA:224804" "galen:BoneTissue" "CALOHA:TS-2011" - "SCTID:91273001" - "MESH:D000140" - "DOID:3650" "NCIt:C41477" "GO:0003016" "OMIM:272350" @@ -31794,7 +31721,6 @@ "CAS:71-43-2" "PMID:23222815" "PMID:12857942" - "Beilstein:969212" "PMID:19228219" "PMID:6353911" "PMID:17373369" @@ -31856,8 +31782,8 @@ "MEDGEN:61668" "MESH:D007710" "SCTID:721756002" - "PMID:28726847" "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG02763&Product=CC" + "PMID:28726847" "ICD10:Q87.8" "OMIM:300472" "PMID:37794183" @@ -31956,7 +31882,6 @@ "CAS:13425-80-4" "MetaCyc:CPD-9674" "PMID:21153705" - "Beilstein:3903873" "Gmelin:200685" "Reaxys:3903873" "UM-BBD_compID:c0012" @@ -32221,13 +32146,15 @@ "MEDGEN:728086" "MONDO:0000536" "DOID:0050921" - "OMIM:300886" "PMID:37794183" "ZFA:0009017" "NCIt:C13014" "CALOHA:TS-1195" "SNOMEDCT:53945006" "FMA:83553" + "OMIM:300886" + "PMID:28240269" + "http://orcid.org/0000-0001-9043-693X" "ICD9:774.4" "MEDGEN:510683" "MONDO:0006595" @@ -32235,8 +32162,6 @@ "SCTID:10877007" "DOID:11452" "MedDRA:10034513" - "PMID:28240269" - "http://orcid.org/0000-0001-9043-693X" "Orphanet:436151" "UMLS:C5543206" "MEDGEN:1787876" @@ -32346,6 +32271,7 @@ "MEDGEN:1646677" "DOID:0111920" "MedDRA:10082578" + "PMID:35347128" "EFO:0007458" "ICD10:C34.1" "ICD10:C34.2" @@ -32366,7 +32292,6 @@ "PMID:17190852" "Reaxys:5728855" "HMDB:HMDB0000407" - "PMID:35347128" "OMIM:272460" "ICD10:Q76.4" "PMID:37794183" @@ -32478,7 +32403,6 @@ "MedDRA:10034354" "SNOMEDCT:88169003" "MONDO:0004260" - "PMID:35995766" "SNOMEDCT:58756001" "ICD9:333.4" "MeSH:D006816" @@ -32488,6 +32412,7 @@ "CLO:0008074" "BTO:0005293" "RRID:CVCL_1550" + "PMID:35995766" "RRID:CVCL_7044" "GARD:4947" "OMIM:271225" @@ -32570,7 +32495,6 @@ "PMID:15189696" "PMID:32197490" "AGR:IND607289207" - "Beilstein:93072" "AGR:IND605428769" "PMID:32488024" "PMID:19838939" @@ -32776,18 +32700,18 @@ "UMLS:C1519651" "NCIT:C37866" "GARD:7060" - "MEDGEN:1810905" - "OMIM:619845" - "UMLS:C5676970" - "NCIt:C74475" - "MeSH:D029741" - "SNOMEDCT:86147000" "UMLS:C1336522" "MONDO:0006436" "EFO:1000555" "NCIT:C5935" "MEDGEN:277773" "SCTID:423189008" + "MEDGEN:1810905" + "OMIM:619845" + "UMLS:C5676970" + "NCIt:C74475" + "MeSH:D029741" + "SNOMEDCT:86147000" "PMID:31396565" "DOID:6554" "ICDO:8313/3" @@ -32965,7 +32889,6 @@ "LINCS:LSM-3190" "Drug_Central:180" "SNOMEDCT:372726002" - "Beilstein:2217885" "Patent:CN101780063" "PMID:18359012" "KEGG:D07448" @@ -33019,8 +32942,8 @@ "GARD:17645" "UMLS:C4022001" "PMID:29875488" - "PMID:33634981" "OMIM:600989" + "PMID:33634981" "RRID:CVCL_D581" "BTO:0005242" "ZFA:0009082" @@ -33161,7 +33084,6 @@ "MONDO:0006566" "DOID:161" "PMID:29875488" - "PMID:26068415" "PMID:32641083" "UMLS:C2698870" "NCIt:C74619" @@ -33181,6 +33103,7 @@ "MEDGEN:1785588" "OMIM:619226" "UMLS:C5543184" + "PMID:26068415" "PMID:24816252" "PMID:12636053" "CAS:18684-24-7" @@ -33602,7 +33525,6 @@ "SCTID:302544002" "GAID:50" "Orphanet:208974" - "PMID:35668104" "UMLS:C0238525" "MEDGEN:65972" "EFO:0002920" @@ -33610,6 +33532,7 @@ "SCTID:254897006" "MONDO:0005214" "NCIT:C40317" + "PMID:35668104" "PMID:25653158" "ICD10:G23.1" "HMDB:HMDB0000156" @@ -33785,7 +33708,6 @@ "icd11.foundation:564841249" "MEDGEN:151936" "SCTID:92415001" - "SNOMEDCT:433742005" "icd11.foundation:1897308206" "OMIM:304120" "Orphanet:90652" @@ -33813,6 +33735,7 @@ "MAT:0000081" "TAO:0001081" "MO:490" + "SNOMEDCT:433742005" "UMLS:C1334439" "MEDGEN:232709" "ONCOTREE:LUACC" @@ -33823,10 +33746,6 @@ "PMID:24816252" "UMLS:C1834013" "OMIM:164330" - "UMLS:C0266539" - "MEDGEN:75616" - "GARD:1159" - "Orphanet:98994" "OMIM:615266" "OMIM:228300" "OMIM:614858" @@ -33847,6 +33766,10 @@ "OMIM:614838" "OMIM:615270" "OMIM:614841" + "UMLS:C0266539" + "MEDGEN:75616" + "GARD:1159" + "Orphanet:98994" "GARD:18499" "MEDGEN:1724427" "OMIM:619011" @@ -33912,7 +33835,6 @@ "PMID:7452460" "CAS:646-29-7" "PMID:16401590" - "Beilstein:3590530" "Reaxys:3590530" "MetaCyc:STEARIC_ACID" "PMID:3180776" @@ -33972,7 +33894,6 @@ "PMID:31683694" "PMID:17497019" "Gmelin:3720" - "Beilstein:113089" "MetaCyc:CPD-8819" "Wikipedia:2,2%27-Bipyridine" "PMID:24816007" @@ -34167,17 +34088,16 @@ "MEDGEN:82713" "SCTID:28740008" "SNOMEDCT:226757003" + "PMID:33634981" "UMLS:C1862389" "MEDGEN:349495" "OMIM:108800" "DOID:0110106" - "PMID:33634981" "NCIT:C5511" "MEDGEN:204256" "UMLS:C1096639" "DOID:3607" "PMID:29875488" - "Beilstein:3664410" "Reaxys:3664410" "PMID:17190852" "CAS:149-61-1" @@ -34336,6 +34256,7 @@ "UMLS:C5231451" "DOID:0111918" "MEDGEN:1684662" + "KEGG COMPOUND:C17969" "DOID:9965" "NCIT:C3418" "MedDRA:10044275" @@ -34356,7 +34277,6 @@ "MEDGEN:76012" "UMLS:C0279667" "NCIT:C7980" - "KEGG COMPOUND:C17969" "PMID:24816252" "PMID:28240269" "SCTID:87049008" @@ -34412,7 +34332,6 @@ "KNApSAcK:C00001397" "CAS:556-03-6" "Reaxys:515881" - "Beilstein:515881" "Gmelin:27744" "PMID:17190852" "CAS:55520-40-6" @@ -34970,7 +34889,6 @@ "PMID:22920589" "KEGG:C00389" "PMID:17426744" - "Beilstein:317313" "PMID:37794183" "PMID:28408603" "SNOMEDCT_US:95735008" @@ -35016,7 +34934,6 @@ "Wikipedia:Polidocanol" "PMID:20348378" "PMID:22238058" - "Beilstein:1895308" "PMID:22309639" "PMID:21557180" "PMID:21818522" @@ -35069,14 +34986,14 @@ "UMLS:C4303134" "SCTID:721765009" "ZFA:0005042" - "DOID:8135" - "UMLS:C1333748" - "MEDGEN:232224" - "NCIT:C5734" "UMLS:C0521620" "SNOMEDCT_US:69758005" "UMLS:C4020897" "SNOMEDCT_US:95576001" + "DOID:8135" + "UMLS:C1333748" + "MEDGEN:232224" + "NCIT:C5734" "MedDRA:10020718" "MEDGEN:43784" "SNOMEDCT:76197007" @@ -35173,11 +35090,6 @@ "DOID:13252" "MONDO:0006855" "PMID:35347128" - "SCTID:699354006" - "NCIT:C6095" - "DOID:9987" - "MEDGEN:277449" - "UMLS:C1335131" "UMLS:C0039584" "SCTID:64910008" "ICD9:608.89" @@ -35187,6 +35099,11 @@ "MONDO:0002329" "NCIT:C26890" "DOID:2519" + "SCTID:699354006" + "NCIT:C6095" + "DOID:9987" + "MEDGEN:277449" + "UMLS:C1335131" "PMID:19136049" "PMID:2195336" "Beilstein:11464709" @@ -35202,7 +35119,6 @@ "PMID:11981821" "PMID:10771133" "PMID:19657353" - "Beilstein:3038033" "Reaxys:3038033" "PMID:22927343" "PMID:8735869" @@ -35537,13 +35453,13 @@ "MESH:D046728" "UMLS:C4023510" "UMLS:C1855340" + "Orphanet:261572" "DOID:1283" "ICD9CM:618.6" "ICD10CM:K46" "MESH:D006547" "SNOMEDCT:47671001" "UMLS:C0205792" - "Orphanet:261572" "OMIMPS:138800" "SCTID:237570007" "NCIT:C131438" @@ -35687,7 +35603,6 @@ "Reaxys:605266" "PPDB:1484" "PMID:10088182" - "Beilstein:605266" "HMDB:HMDB0060334" "Gmelin:1913" "CAS:106-93-4" @@ -35778,7 +35693,6 @@ "VSDB:1763" "MeSH:D002939" "CAS:85721-33-1" - "Beilstein:3568352" "PMID:10397494" "PDBeChem:CPF" "PMID:10737746" @@ -35938,8 +35852,8 @@ "MESH:D016472" "MEDGEN:102314" "UMLS:C0154681" - "SCTID:85672005" "ICD9:335.9" + "SCTID:85672005" "ICD9:335" "DOID:4873" "NCIt:C49236" @@ -35962,7 +35876,6 @@ "ICD9:270.7" "Orphanet:422519" "PMID:19347970" - "Beilstein:52645" "PMID:16295522" "CAS:60-92-4" "KEGG:C00575" @@ -36486,13 +36399,13 @@ "MEDGEN:1648456" "GARD:18446" "OMIM:617591" + "NCIt:C33064" "NCIT:C4373" "MONDO:0006224" "MEDGEN:90961" "SCTID:235685007" "NCIt:C4373" "UMLS:C0341225" - "NCIt:C33064" "DOID:0060326" "HP:0002475" "GARD:3475" @@ -36701,7 +36614,6 @@ "Wikipedia:Calcitriol" "MeSH:D002117" "NCIt:C330" - "Beilstein:2227647" "MetaCyc:CALCITRIOL" "PMID:15928596" "CAS:32222-06-3" @@ -36744,6 +36656,7 @@ "UMLS:C1514608" "FMA:3786" "PMID:35347128" + "OMIM:615285" "KEGG COMPOUND:C03149" "UMLS:C0232939" "SNOMEDCT_US:8913004" @@ -36779,7 +36692,6 @@ "UMLS:C0870082" "MeSH:D017541" "PMID:37794183" - "OMIM:615285" "MEDGEN:1645733" "OMIM:618015" "UMLS:C4693947" @@ -36899,7 +36811,6 @@ "Reaxys:1726539" "Wikipedia:Oleamide" "PMID:11681856" - "Beilstein:1726539" "NCIT:C3778" "ICDO:8441/3" "MEDGEN:60212" @@ -37276,10 +37187,10 @@ "NCIt:C12478" "ICD10:G60.0" "OMIM:608591" + "PMID:28240269" "CLO:0008207" "RRID:CVCL_3407" "BTO:0000946" - "PMID:28240269" "MESH:C536796" "MEDGEN:419045" "NORD:949" @@ -37316,7 +37227,6 @@ "PDBeChem:PLP" "Drug_Central:3506" "PMID:18491919" - "Beilstein:234749" "PMID:9866693" "KEGG:C00018" "DrugBank:DB00114" @@ -37367,9 +37277,9 @@ "SNOMEDCT_US:112625008" "SNOMEDCT_US:271807003" "MEDDRA:10037844" - "Orphanet:261579" "OMIM:274150" "ICD10:M31.3" + "Orphanet:261579" "PMID:28240269" "PMID:34436474" "OMIM:256600" @@ -37436,7 +37346,6 @@ "DOID:62" "OMIM:218550" "ICD10:Q87.2" - "PMID:26068415" "Orphanet:482" "GARD:6835" "MESH:D000796" @@ -37449,6 +37358,7 @@ "DOID:7365" "MedDRA:10048640" "MONDO:0018830" + "PMID:26068415" "PMID:35668104" "CAS:54192-66-4" "LINCS:LSM-6449" @@ -37460,7 +37370,6 @@ "SNOMEDCT:73133000" "NCIt:C385" "MeSH:D003078" - "Beilstein:2228812" "DrugBank:DB01394" "PMID:7200520" "PMID:24074178" @@ -37524,9 +37433,9 @@ "MEDGEN:231356" "UMLS:C1332177" "PMID:29875488" + "SCTID:14756005" "MEDGEN:45335" "MeSH:D010309" - "SCTID:14756005" "MedDRA:10034038" "MESH:D010309" "NCIT:C114281" @@ -37585,8 +37494,8 @@ "ICD9:602.9" "ICD10:N42" "UMLS:C0033575" - "MESH:D011469" "DOID:47" + "MESH:D011469" "NCIT:C26865" "SCTID:30281009" "MONDO:0003105" @@ -37749,11 +37658,11 @@ "Orphanet:98718" "OMIM:615513" "OMIM:616005" - "ZFS:0000006" "DOID:4091" "MeSH:D017250" "MONDO:0005687" "MESH:D017250" + "ZFS:0000006" "HMDB:0041919" "GARD:15881" "DOID:0081274" @@ -37796,6 +37705,7 @@ "DOID:0111336" "GARD:1571" "OMIM:122880" + "ICD10:Q93.5" "RRID:CVCL_3566" "CLO:0008424" "GARD:6377" @@ -37805,7 +37715,6 @@ "UMLS:C0014805" "OMIM:133020" "MEDGEN:8688" - "ICD10:Q93.5" "PMID:29875488" "UMLS:C4023171" "MESH:C537396" @@ -37987,7 +37896,6 @@ "PMID:37794183" "Reaxys:1907918" "PMID:17258277" - "Beilstein:1907918" "PMID:24151025" "KEGG:C19425" "MetaCyc:CPD-15564" @@ -38076,7 +37984,6 @@ "KEGG:D02356" "SNOMEDCT:47898004" "Reaxys:2825000" - "Beilstein:2825000" "SNOMEDCT:372754009" "PMID:24577794" "PMID:12454681" @@ -38245,7 +38152,6 @@ "PDBeChem:0XE" "KEGG:C10025" "PMID:33732310" - "Beilstein:70480" "PMID:33652818" "PMID:33935719" "PMID:33781030" @@ -38310,9 +38216,9 @@ "PMID:37794183" "NCIt:C15986" "UMLS:C1855514" - "PMID:35050183" "OMIM:237310" "ICD10:E72.2" + "PMID:35050183" "PMID:27338251" "MeSH:D011024" "UMLS:C0032310" @@ -38507,9 +38413,8 @@ "UMLS:C0013423" "SNOMEDCT_US:431034009" "PMID:24769178" - "PDBeChem:AME" "PMID:16129491" - "Beilstein:1725552" + "PDBeChem:AME" "PMID:845673" "Reaxys:4744969" "Reaxys:1725552" @@ -38548,6 +38453,9 @@ "OMIM:300554" "OMIM:310468" "PMID:28240269" + "EFO:0003683" + "ZFA:0001391" + "TAO:0001391" "MedDRA:10036105" "ICD10:G63" "ICD9:356.9" @@ -38566,9 +38474,6 @@ "ICD10:G62.9" "MEDGEN:57502" "SCTID:42345000" - "EFO:0003683" - "ZFA:0001391" - "TAO:0001391" "PMID:28729688" "PMID:31015401" "Wikipedia:Arm" @@ -38886,8 +38791,8 @@ "SCTID:720976009" "NCIT:C126870" "PMID:26017310" - "ZFA:0009176" "PMID:28240269" + "ZFA:0009176" "MedDRA:10063761" "MeSH:D054038" "Wikipedia:Posterior_reversible_encephalopathy_syndrome" @@ -39124,11 +39029,11 @@ "NCIt:C51948" "SNOMEDCT:767002" "MeSH:D007958" - "PMID:34857772" "UMLS:C5680310" "GARD:22366" "MEDGEN:1830104" "Orphanet:589856" + "PMID:34857772" "Orphanet:276145" "MEDGEN:1674486" "UMLS:C5190832" @@ -39373,10 +39278,10 @@ "PMID:23823483" "OMIM:615517" "ICD10:E83.1" + "MedDRA:10081236" "SNOMEDCT_US:204443008" "SNOMEDCT_US:10930001" "UMLS:C0265908" - "MedDRA:10081236" "PMID:37794183" "Beilstein:884766" "CAS:67306-03-0" @@ -39505,7 +39410,6 @@ "PDBeChem:ICO" "PMID:23116603" "PMID:16664264" - "Beilstein:129435" "HMDB:HMDB0003320" "Gmelin:1875411" "PMID:13905029" @@ -39747,7 +39651,6 @@ "MESH:D016736" "ICD9:279.49" "MeSH:D016736" - "PMID:29875488" "OMIM:211980" "NCIT:C7377" "ICD9:162.8" @@ -39759,6 +39662,7 @@ "SCTID:363358000" "ICD9:162.5" "ICD9:162.3" + "PMID:29875488" "MedDRA:10047056" "MEDGEN:41447" "MONDO:0004648" @@ -39995,7 +39899,6 @@ "EFO:0000183" "ICD9:201.90" "GARD:0002714" - "Beilstein:7387333" "KEGG:D00896" "PDBeChem:EFZ" "PMID:10576692" @@ -40035,7 +39938,6 @@ "Reaxys:119374" "Gmelin:82804" "PMID:18220565" - "Beilstein:119374" "PMID:15013786" "DrugBank:DB00951" "PMID:19183459" @@ -40385,6 +40287,18 @@ "DOID:5809" "NCIT:C6589" "UMLS:C1332994" + "ICD10:C63.9" + "ICD9:187.9" + "MESH:D005834" + "UMLS:C0153606" + "SCTID:363515000" + "MONDO:0005836" + "EFO:0007355" + "ICD10:C60-C63" + "ICD9:187.8" + "MEDGEN:102279" + "DOID:3856" + "NCIT:C8561" "CiteXplore:11356183" "CiteXplore:20187701" "CiteXplore:11181467" @@ -40400,18 +40314,6 @@ "CiteXplore:15913955" "PMID:15583011" "PMID:11181467" - "ICD10:C63.9" - "ICD9:187.9" - "MESH:D005834" - "UMLS:C0153606" - "SCTID:363515000" - "MONDO:0005836" - "EFO:0007355" - "ICD10:C60-C63" - "ICD9:187.8" - "MEDGEN:102279" - "DOID:3856" - "NCIT:C8561" "OMIM:614322" "ICD10:G11.1" "GARD:2016" @@ -40423,16 +40325,16 @@ "MEDGEN:140931" "UMLS:C0854242" "PMID:29875488" - "CLO:0008203" - "BTO:0004968" - " CLO:0008206" - "RRID:CVCL_3940" - " CLO:0050179" "GARD:15589" "MESH:C567876" "UMLS:C2752071" "OMIM:612881" "MEDGEN:442882" + "CLO:0008203" + "BTO:0004968" + " CLO:0008206" + "RRID:CVCL_3940" + " CLO:0050179" "ICD9:289.6" "Orphanet:90042" "icd11.foundation:962836252" @@ -40460,7 +40362,6 @@ "Patent:US2607773" "Reaxys:88554" "KEGG:C07404" - "Beilstein:88554" "Gmelin:337077" "Patent:US2530451" "Wikipedia:Promethazine" @@ -40518,6 +40419,9 @@ "DOID:0080732" "Orphanet:536532" "PMID:35050183" + "PMID:24531970" + "MeSH:D016182" + "DOID:4318" "OMIM:611875" "OMIM:601144" "MeSH:D053840" @@ -40531,9 +40435,6 @@ "ICD10:I47.2" "UMLS:C1142166" "OMIM:613123" - "PMID:24531970" - "MeSH:D016182" - "DOID:4318" "PMID:37794183" "OMIM:615035" "ICD10:G11.4" @@ -40544,7 +40445,6 @@ "GARD:15115" "MetaCyc:CPD-3743" "Reaxys:3919947" - "Beilstein:3919947" "ICD10:E77.8" "ICD10:Q87.8" "HP:0002836" @@ -40560,6 +40460,9 @@ "ICD9:753.5" "icd11.foundation:1927556258" "PMID:24816252" + "CLO:0003599" + "RRID:CVCL_1239" + "BTO:0003704" "UMLS:C0014733" "SCTID:44653001" "MedDRA:10015145" @@ -40571,10 +40474,6 @@ "MEDGEN:41855" "HP:0001055" "MONDO:0001266" - "CLO:0003599" - "RRID:CVCL_1239" - "BTO:0003704" - "PMID:29875488" "PMID:35347128" "GARD:18158" "UMLS:C5543289" @@ -40582,6 +40481,7 @@ "OMIM:619274" "CLO:0009210" "RRID:CVCL_0543" + "PMID:29875488" "UMLS:C4282128" "MEDGEN:924232" "OMIM:607411" @@ -40686,7 +40586,6 @@ "PMID:18996527" "PMID:15311728" "PMID:22155410" - "Beilstein:109591" "PMID:7581845" "PMID:8306147" "PMID:25241762" @@ -41235,21 +41134,21 @@ "ICD9:759.89" "GARD:13" "PMID:37164013" + "MEDGEN:412713" + "UMLS:C2749485" + "OMIM:256700" "UMLS:C0279547" "MEDGEN:83522" "NCIT:C7946" "DOID:6332" - "MEDGEN:412713" - "UMLS:C2749485" - "OMIM:256700" "PMID:35347128" "OMIM:618852" "ZFA:0001082" "PMID:29875488" "UMLS:C1527225" "NCIt:C26684" - "ICD10:L57" "MeSH:D000016" + "ICD10:L57" "Orphanet:521132" "MESH:D000016" "SCTID:85983004" @@ -41491,7 +41390,6 @@ "PMID:11679255" "KEGG:C13719" "PMID:7199049" - "Beilstein:1085978" "Reaxys:1085978" "PDBeChem:NZO" "MeSH:D015739" @@ -41614,22 +41512,21 @@ "GARD:16701" "Orphanet:79134" "UMLS:C4303593" + "Reaxys:1724431" + "MetaCyc:CPD-10705" "PMID:8568805" "KEGG:C12269" - "PMID:2170646" - "PMID:3351864" - "PMID:10514280" - "MeSH:D016202" - "PDBeChem:OEM" - "HMDB:HMDB0002393" "Wikipedia:N-Methyl-D-aspartic_acid" - "PMID:10893301" "PMID:9572889" - "Beilstein:1724431" "CAS:6384-92-5" "PMID:1967316" - "Reaxys:1724431" - "MetaCyc:CPD-10705" + "PMID:10514280" + "MeSH:D016202" + "PMID:3351864" + "PMID:10893301" + "HMDB:HMDB0002393" + "PDBeChem:OEM" + "PMID:2170646" "PMID:29875488" "OMIM:146550" "MeSH:C535912" @@ -41713,13 +41610,13 @@ "MEDGEN:320502" "SNOMEDCT:90540004" "MeSH:D004183" - "UMLS:C1837247" - "OMIM:618276" "DC:0000445" "ICD10:M11.2" "GARD:0010877" "MedDRA:10059364" "Orphanet:53715" + "OMIM:618276" + "UMLS:C1837247" "ONCOTREE:IUP" "UMLS:C1334282" "MEDGEN:233583" @@ -41870,11 +41767,11 @@ "NORD:763" "ICD10:C41.1" "NCIT:C7492" - "NCIt:C111322" "DOID:3698" "UMLS:C0861856" "NCIT:C5846" "MEDGEN:167830" + "NCIt:C111322" "UMLS:C0751669" "ICD10:G11.8" "NCIt:C86365" @@ -42162,7 +42059,6 @@ "KEGG:C07566" "Wikipedia:Pimozide" "SNOMEDCT:108438008" - "Beilstein:729089" "SNOMEDCT:386848009" "DrugBank:DB01100" "Reaxys:729089" @@ -42226,8 +42122,8 @@ "MA:0000912" "PMID:31530798" "PMID:26595209" - "PMID:28240269" "ZFA:0001104" + "PMID:28240269" "ZFA:0001054" "PMID:35347128" "GARD:17314" @@ -42258,8 +42154,6 @@ "GAID:343" "NCIT:C12724" "PMID:35888748" - "DOID:4378" - "MeSH:D021183" "UMLS:C1535926" "MESH:D065886" "MedGen:C1535926" @@ -42272,6 +42166,8 @@ "MedDRA:C1535926" "NCIT:C89338" "MedDRA:10064062" + "DOID:4378" + "MeSH:D021183" "UMLS:C0519037" "DOID:1523" "SCTID:133751000119102" @@ -42330,7 +42226,6 @@ "MONDO:0007783" "OMIM:145600" "Reaxys:1721408" - "Beilstein:1721408" "PDBeChem:CYS" "PMID:22735334" "Wikipedia:Cysteine" @@ -42897,6 +42792,15 @@ "GARD:16693" "Orphanet:251651" "UMLS:CN201945" + "MEDGEN:1826073" + "GARD:18643" + "UMLS:C5680181" + "Orphanet:88616" + "DOID:0060308" + "OMIMPS:249500" + "RRID:CVCL_0504" + "BTO:0001890" + "CLO:0008825" "UMLS:C0085253" "DOID:14256" "NANDO:1200282" @@ -42915,15 +42819,6 @@ "MeSH:D016706" "ICD9:714.2" "ICD9:759.89" - "MEDGEN:1826073" - "GARD:18643" - "UMLS:C5680181" - "Orphanet:88616" - "DOID:0060308" - "OMIMPS:249500" - "RRID:CVCL_0504" - "BTO:0001890" - "CLO:0008825" "UMLS:C1862382" "icd11.foundation:896652469" "SCTID:724384008" @@ -43108,7 +43003,6 @@ "LINCS:LSM-2198" "PMID:11932001" "Gmelin:262573" - "Beilstein:1911333" "PMID:7561049" "CAS:50-32-8" "PMID:7721048" @@ -43182,7 +43076,6 @@ "CAS:121-75-5" "Wikipedia:Malathion" "PMID:29852369" - "Beilstein:1804525" "KEGG:C07497" "KEGG:D00534" "DrugBank:DB00772" @@ -43224,7 +43117,6 @@ "BTO:0001060" "UMLS:CN229293" "Orphanet:98676" - "http://orcid.org/0000-0003-4183-8865" "BTO:0000732" "RRID:CVCL_0379" "CLO:0007125" @@ -43249,6 +43141,7 @@ "MP:0006278" "ICD9:441.1" "HP:0004942" + "http://orcid.org/0000-0003-4183-8865" "UMLS:C0238183" "SCTID:83664006" "NANDO:2200336" @@ -43463,8 +43356,8 @@ "MedDRA:10026820" "PMID:29875488" "MEDGEN:87280" - "MONDO:0003311" "SNOMEDCT:68738004" + "MONDO:0003311" "DOID:5166" "MeSH:D036821" "MESH:D036821" @@ -43522,7 +43415,6 @@ "KEGG:C07593" "Patent:CN102090406" "CAS:83-79-4" - "Beilstein:99070" "VSDB:587" "LIPID_MAPS_instance:LMPK12060007" "Patent:CN102007944" @@ -43588,6 +43480,7 @@ "SNOMEDCT:116517003" "OMIM:128230" "ICD10:G24.1" + "PMID:29875488" "NCIt:C73913" "PO:0009010" "BTO:0001226" @@ -43596,7 +43489,6 @@ "MAT:0000008" "NCIt:C54575" "SNOMEDCT:264337003" - "PMID:29875488" "Orphanet:247638" "ICD10CM:E83.3" "UMLS:C0334501" @@ -43743,10 +43635,6 @@ "GARD:104" "UMLS:C0403555" "MESH:C536480" - "UMLS:C1839129" - "OMIM:314300" - "MeSH:C536970" - "ICD10:Q87.8" "ICD9:483.0" "MESH:D011019" "MEDGEN:19363" @@ -43757,6 +43645,10 @@ "MeSH:D011019" "MONDO:0005867" "SCTID:46970008" + "UMLS:C1839129" + "OMIM:314300" + "MeSH:C536970" + "ICD10:Q87.8" "MEDGEN:382527" "UMLS:C2675112" "OMIM:612628" @@ -43799,8 +43691,6 @@ "UMLS:C0205768" "GARD:10632" "ICDO:9384/1" - "Wikipedia:High-content_screening" - "ERO:0001655" "KEGG:C00026" "CAS:64-15-3" "PMID:17190852" @@ -43808,13 +43698,14 @@ "MetaCyc:2-KETOGLUTARATE" "PMID:21791173" "PMID:11913971" - "Beilstein:3664503" "Reaxys:3664503" "PMID:21184277" "PMID:15612731" "PMID:21196226" "Gmelin:602479" "PMID:19376872" + "Wikipedia:High-content_screening" + "ERO:0001655" "PMID:25456834" "NCIT:C6796" "MEDGEN:234213" @@ -43932,8 +43823,8 @@ "ICD9:229.8" "NCIT:C4884" "ZFA:0001460" - "PMID:35347128" "PMID:34814699" + "PMID:35347128" "PMID:29875488" "UMLS:C4013950" "OMIM:614892" @@ -44307,7 +44198,6 @@ "PMID:12085493" "PMID:19082141" "SNOMEDCT:14804005" - "Beilstein:907175" "Wikipedia:Creatine" "PMID:11483809" "PMID:11867929" @@ -44441,13 +44331,13 @@ "ICD9:253.9" "UMLS:C0751437" "MEDGEN:148306" + "PMID:28504680" "NCIT:C6650" "MEDGEN:231054" "EFO:0008490" "UMLS:C1332243" "DOID:3502" "MONDO:0002670" - "PMID:28504680" "SNOMEDCT:68883008" "PMID:28240269" "CMO:0000270" @@ -44487,9 +44377,9 @@ "SNOMEDCT:3065002" "MeSH:D048169" "PMID:29875488" - "PMID:36006120" "OMIM:618205" "MedGen:C4748701" + "PMID:36006120" "RRID:CVCL_1059" "BTO:0002975" "CLO:0001566" @@ -44610,8 +44500,8 @@ "ICD10CM:R82.3" "MEDGEN:199627" "NANDO:2201081" - "UMLS:C0751285" "GARD:17266" + "UMLS:C0751285" "Orphanet:268184" "SCTID:240849009" "UMLS:C0024759" @@ -45011,7 +44901,6 @@ "Reaxys:636059" "PMID:21399792" "KEGG:C05058" - "Beilstein:636059" "CAS:591-27-5" "DOID:0080077" "UMLS:C2676786" @@ -45049,7 +44938,6 @@ "PMID:24816252" "Reaxys:3904279" "Gmelin:325292" - "Beilstein:3904279" "PMID:35995766" "PMID:28240269" "MEDGEN:1826103" @@ -45472,7 +45360,6 @@ "Orphanet:98855" "BTO:0001658" "KEGG:C00355" - "Beilstein:2215169" "MetaCyc:L-DIHYDROXY-PHENYLALANINE" "PMID:23196068" "PMID:23206800" @@ -45677,7 +45564,6 @@ "KEGG:C06683" "PMID:16602117" "PMID:16185184" - "Beilstein:6495519" "PMID:11642230" "PMID:15828439" "PMID:16082406" @@ -45722,14 +45608,14 @@ "UMLS:C5677019" "MEDGEN:1804308" "KEGG COMPOUND:C18606" + "CLO:0003587" + "BTO:0003277" + "RRID:CVCL_4210" "UMLS:C4310641" "OMIM:617270" "GARD:13361" "DOID:0081220" "MEDGEN:934608" - "CLO:0003587" - "BTO:0003277" - "RRID:CVCL_4210" "ICD9:372.30" "MedDRA:10010741" "MESH:D003231" @@ -45949,11 +45835,11 @@ "SCTID:128073008" "SNOMEDCT:311506003" "UMLS:C4025246" + "Orphanet:785" "MeSH:C535962" "UMLS:C0432317" "OMIM:131950" "ICD10:Q81.0" - "Orphanet:785" "PMID:29875488" "SNOMEDCT:54365000" "MeSH:D015010" @@ -45997,6 +45883,8 @@ "DOID:11387" "UMLS:C0270629" "MONDO:0005752" + "MeSH:D045826" + "DOID:50364" "KEGG COMPOUND:C19458" "MEDGEN:354548" "UMLS:C1720956" @@ -46010,8 +45898,6 @@ "GARD:21580" "UMLS:C5191050" "MEDGEN:1680592" - "MeSH:D045826" - "DOID:50364" "PMID:28240269" "UMLS:C0344622" "ICD-10:Q20.4" @@ -46170,7 +46056,6 @@ "OMIM:608673" "ICD10:G60.0" "PMID:28240269" - "ICD10:Q87.1" "PMID:36168886" "SCTID:719166003" "GARD:10611" @@ -46182,15 +46067,16 @@ "MESH:C563869" "PMID:37794183" "PMID:35347128" + "ICD10:Q87.1" "Orphanet:420702" "MEDGEN:934731" "UMLS:C4310764" "DOID:0112129" "GARD:17698" "OMIM:617014" - "PMID:37794183" "UMLS:C0748283" "NCIt:C123170" + "PMID:37794183" "ICD10:R93" "ZFA:0000813" "PMID:23823483" @@ -46275,7 +46161,6 @@ "OMIM:615596" "ICD10:E77.8" "Gmelin:325290" - "Beilstein:1906438" "Reaxys:1906438" "OMIM:618624" "OMIM:609942" @@ -46331,7 +46216,6 @@ "NCIT:C50888" "MESH:D008944" "DOID:11502" - "PMID:35347128" "UMLS:C1168173" "NCIT:C84644" "MEDGEN:218910" @@ -46342,6 +46226,7 @@ "Orphanet:98980" "MedDRA:10059200" "PMID:37253714" + "PMID:35347128" "SCTID:12694001" "SNOMEDCT:12694001" "DOID:3933" @@ -46487,7 +46372,6 @@ "UMLS:C4331989" "MEDGEN:1388639" "LINCS:LSM-5286" - "Beilstein:567897" "CiteXplore:6454381 \"PubMed citation\"" "ChemIDplus:70458-96-7 \"CAS Registry Number\"" "CiteXplore:6461606 \"PubMed citation\"" @@ -46507,8 +46391,8 @@ "Patent:BE863429 \"Patent\"" "PMID:6211142" "SNOMEDCT:387271008" - "PMID:3908074" "CiteXplore:6211142 \"PubMed citation\"" + "PMID:3908074" "HMDB:HMDB0015192" "VSDB:1831" "PMID:6224685" @@ -46795,7 +46679,6 @@ "DOID:2981" "MEDGEN:7212" "DrugBank:DB02235" - "Beilstein:2206690" "MetaCyc:CPD0-1959" "HMDB:HMDB0002005" "PMID:24776987" @@ -46962,10 +46845,10 @@ "NCIT:C5154" "DOID:2132" "UMLS:C1332607" - "RRID:CVCL_2229" "UMLS:C0349506" "MEDGEN:87601" "MONDO:0005434" + "RRID:CVCL_2229" "UMLS:C4072863" "UMLS:C2673946" "SCTID:448563005" @@ -47030,6 +46913,7 @@ "GARD:9834" "UMLS:C2931002" "NCIt:C5978" + "UMLS:C4021375" "MESH:D008379" "MedDRA:10026822" "MONDO:0020500" @@ -47043,7 +46927,6 @@ "ICD9:078.89" "UMLS:C0024788" "GARD:9444" - "UMLS:C4021375" "PMID:35347128" "PMID:29875488" "DOID:0081109" @@ -47069,11 +46952,11 @@ "PMID:21610164" "RRID:CVCL_0122" "BTO:0001169" - "OMIM:609352" - "ICD10:Q81.0" "ICD10:G71.3" "OMIM:614052" "PMID:24816252" + "OMIM:609352" + "ICD10:Q81.0" "NCIT:C6840" "MEDGEN:277347" "DOID:7868" @@ -47148,7 +47031,6 @@ "MetaCyc:CPD-420" "PMID:21608034" "PMID:2324740" - "Beilstein:1726198" "PMID:22770225" "PMID:1583881" "PMID:17703473" @@ -47400,7 +47282,6 @@ "PMID:8246220" "CAS:50-06-6" "PMID:2724304" - "Beilstein:233363" "PMID:3820228" "Wikipedia:Phenobarbital" "PMID:9016327" @@ -47492,13 +47373,18 @@ "MetaCyc:3-UREIDO-PROPIONATE" "PDBeChem:URP" "PMID:1536562" - "Beilstein:1705263" "HMDB:HMDB0000026" "Wikipedia:3-Ureidopropionic_acid" "PMID:17190852" "Wikipedia:Month" "NCIt:C29846" "SNOMEDCT:258706009" + "SCTID:721879006" + "MESH:C537466" + "Orphanet:2556" + "DOID:0111875" + "OMIMPS:309801" + "GARD:3659" "MeSH:D009468" "Orphanet:68381" "MEDGEN:10323" @@ -47511,12 +47397,6 @@ "NANDO:1100001" "MedDRA:10029323" "MESH:D009468" - "SCTID:721879006" - "MESH:C537466" - "Orphanet:2556" - "DOID:0111875" - "OMIMPS:309801" - "GARD:3659" "UMLS:C1303009" "SNOMEDCT_US:400962005" "DOID:1059" @@ -47548,7 +47428,6 @@ "CLO:0003645" "RRID:CVCL_0290" "Reactome:R-HSA-5678822" - "RHEA:29823" "Reactome:R-HSA-5678992" "Reactome:R-HSA-5678863" "MEDGEN:10232" @@ -47612,8 +47491,8 @@ "UMLS:C1857340" "OMIM:221320" "MeSH:C535993" - "PMID:29875488" "MONDO:0005432" + "PMID:29875488" "PMID:29875488" "OMIM:276950" "ICD10:Q87.8" @@ -47725,6 +47604,10 @@ "ICD10:Q80.1" "OMIM:308100" "PMID:37794183" + "Orphanet:329888" + "GARD:21496" + "MEDGEN:1842624" + "UMLS:C5679857" "MEDGEN:825608" "ICD9:759.6" "UMLS:C3839763" @@ -47732,10 +47615,6 @@ "SCTID:703285005" "GARD:19025" "icd11.foundation:1064958823" - "Orphanet:329888" - "GARD:21496" - "MEDGEN:1842624" - "UMLS:C5679857" "UMLS:C0085423" "MEDGEN:88406" "MESH:D016905" @@ -47918,7 +47797,6 @@ "PMID:16442570" "CAS:4478-93-7" "Patent:WO2013179057" - "Beilstein:1723237" "PMID:17134937" "Patent:CN103229711" "HMDB:HMDB0005792" @@ -48043,19 +47921,18 @@ "ICD9:536.3" "ICD10CM:K31.84" "MESH:D018589" - "Patent:EP41355" - "Reaxys:3581974" - "PMID:16387493" "CAS:81103-11-9" - "DrugBank:DB01211" - "KEGG:C06912" - "LINCS:LSM-5606" + "Reaxys:3581974" "KEGG:D00276" + "LIPID_MAPS_instance:LMPK04000014" + "LINCS:LSM-5606" "Drug_Central:668" - "Beilstein:3581974" + "KEGG:C06912" "Patent:US4331803" "PDBeChem:CTY" - "LIPID_MAPS_instance:LMPK04000014" + "Patent:EP41355" + "PMID:16387493" + "DrugBank:DB01211" "NCIt:C12870" "OMIM:308205" "ICD10:Q87.8" @@ -48116,8 +47993,6 @@ "PMID:8662693" "HMDB:HMDB0012458" "PMID:19996111" - "OMIM:608940" - "ICD10:Q77.8" "galen:ThyroidGland" "MESH:D013961" "UMLS:C0040132" @@ -48147,6 +48022,8 @@ "NANDO:1200880" "UMLS:C0029436" "MEDGEN:45247" + "OMIM:608940" + "ICD10:Q77.8" "DOID:0111780" "MEDGEN:333324" "OMIM:311900" @@ -48342,10 +48219,10 @@ "PMID:29875488" "NCIT:C28078" "PMID:28240269" + "OMIM:606346" "NCIt:C15227" "MeSH:D004210" "OBI:0001504" - "OMIM:606346" "UMLS:C0003869" "NCIT:C26700" "MEDGEN:13918" @@ -48378,7 +48255,6 @@ "CAS:128-20-1" "KEGG:C05480" "PMID:14640542" - "Beilstein:3211364" "PMID:15935549" "Drug_Central:997" "PMID:23949204" @@ -48400,7 +48276,6 @@ "NCIt:C4804" "MedDRA:10006256" "PMID:37794183" - "Beilstein:5387583" "Wikipedia:Azithromycin" "MeSH:D017963" "PDBeChem:ZIT" @@ -48493,8 +48368,8 @@ "MONDO:0005493" "MONDO:0003381" "ICD9:253.8" - "ICD9:253.1" "ICD9:253.9" + "ICD9:253.1" "MESH:D010900" "NCIT:C26854" "MEDGEN:45934" @@ -48716,12 +48591,6 @@ "BTO:0000293" "FMA:67325" "EV:0100170" - "NCIT:C6238" - "MONDO:0006201" - "UMLS:C1333473" - "EFO:1000246" - "DOID:2764" - "MEDGEN:232471" "MEDGEN:67439" "DOID:0050477" "NORD:2034" @@ -48736,6 +48605,12 @@ "Orphanet:526" "SCTID:707747007" "MedDRA:10052313" + "NCIT:C6238" + "MONDO:0006201" + "UMLS:C1333473" + "EFO:1000246" + "DOID:2764" + "MEDGEN:232471" "KNApSAcK:C00019688" "KEGG:C03406" "CAS:2387-71-5" @@ -48852,7 +48727,6 @@ "PMID:17190852" "CAS:4998-57-6" "PMID:22770225" - "Beilstein:84087" "KNApSAcK:C00001363" "Gmelin:3656" "PMID:22264337" @@ -48927,7 +48801,6 @@ "KEGG:C03145" "CAS:4289-98-9" "PMID:22770225" - "Beilstein:1725218" "Reaxys:1725218" "PMID:37794183" "MESH:C535781" @@ -48991,7 +48864,6 @@ "Wikipedia:Camptothecin" "PMID:11024478" "MeSH:D002166" - "Beilstein:6075662" "Reaxys:6075662" "PMID:23474217" "PDBeChem:EHD" @@ -49077,6 +48949,7 @@ "MONDO:0006799" "EFO:1000979" "MESH:D007029" + "PMID:33634981" "PMID:38565889" "UMLS:C1847762" "MEDGEN:349899" @@ -49086,7 +48959,6 @@ "DOID:0080376" "UMLS:C1860823" "GARD:7802" - "PMID:33634981" "PMID:28240269" "icd11.foundation:625421044" "MEDGEN:1675807" @@ -49177,8 +49049,8 @@ "icd11.foundation:329165933" "UMLS:C4736216" "Orphanet:93434" - "RRID:CVCL_E886" "PMID:35149390" + "RRID:CVCL_E886" "NCIT:C9105" "UMLS:C2349952" "MEDGEN:379086" @@ -49305,7 +49177,6 @@ "MEDGEN:152849" "MetaCyc:DODECANOATE" "KEGG:C02679" - "Beilstein:3588839" "Reaxys:3588839" "Gmelin:333430" "NCIt:C17353" @@ -49407,7 +49278,6 @@ "KEGG:D02330" "HMDB:HMDB0031548" "Gmelin:1302" - "Beilstein:1730800" "PMID:19091298" "MEDGEN:382217" "Orphanet:3032" @@ -49757,7 +49627,6 @@ "PMID:1167988" "PMID:4628727" "LIPID_MAPS_instance:LMST02030161" - "Beilstein:2062088" "PMID:17066953" "Reaxys:2062088" "Wikipedia:Hydroxyprogesterone" @@ -49920,16 +49789,16 @@ "icd11.foundation:998231424" "MEDGEN:536543" "ICD9:291.81" - "MEDGEN:863561" - "UMLS:C4015124" - "GARD:16055" - "OMIM:616059" "UMLS:C1865181" "Orphanet:357158" "MESH:C566520" "GARD:17547" "OMIM:602562" "MEDGEN:355927" + "MEDGEN:863561" + "UMLS:C4015124" + "GARD:16055" + "OMIM:616059" "PMID:37164013" "MEDGEN:462969" "OMIM:270500" @@ -50002,8 +49871,8 @@ "MA:0001082" "EFO:0002516" "DOID:0112227" - "SNOMEDCT:257965001" "NCIt:C44277" + "SNOMEDCT:257965001" "MO:812" "SNOMEDCT:257987005" "MeSH:D016279" @@ -50405,15 +50274,15 @@ "MESH:D010845" "ICD9:786.09" "OMIM:257500" - "PMID:29875488" - "UMLS:C1845206" - "FBbt:00005523" "GARD:12356" "DOID:0070236" "UMLS:C3810012" "MEDGEN:816342" "OMIM:615582" "MONDO:0014262" + "PMID:29875488" + "UMLS:C1845206" + "FBbt:00005523" "MEDGEN:232156" "NCIT:C7032" "DOID:7051" @@ -50504,7 +50373,6 @@ "PMID:22227165" "HMDB:HMDB0011756" "PMID:21185819" - "Beilstein:1724849" "LINCS:LSM-20975" "PMID:22770225" "MetaCyc:CPD-433" @@ -50611,7 +50479,6 @@ "PDBeChem:FOK" "PMID:9828101" "Patent:US4476140" - "Beilstein:4300863" "PMID:8489512" "PMID:14691682" "PMID:11816015" @@ -50768,7 +50635,6 @@ "UMLS:C0543541" "UMLS:C0341706" "Reaxys:3537457" - "Beilstein:3537457" "Gmelin:325289" "UMLS:C0162819" "SNOMEDCT_US:11263005" @@ -50928,26 +50794,26 @@ "NCIT:C100093" "UMLS:C1696109" "PMID:29875488" + "PMID:24816252" "ICD9:191.2" "UMLS:C0153636" "MEDGEN:509347" "DOID:2135" "SCTID:363468009" "ICD10CM:C71.2" - "PMID:24816252" + "PMID:31015401" "NCIT:C6187" "MEDGEN:277591" "DOID:6118" "UMLS:C1335751" "UMLS:C3279222" - "PMID:31015401" + "PMID:26417704" "DOID:0081431" "MEDGEN:1613834" "Orphanet:572773" "OMIM:617604" "GARD:18655" "UMLS:C4539873" - "PMID:26417704" "MeSH:D016158" "MEDGEN:1748867" "GARD:18570" @@ -51167,18 +51033,17 @@ "Orphanet:98586" "NCIT:C152302" "RRID:CVCL_S599" + "PMID:33204752" "PMID:36168886" "UMLS:C5676935" "OMIM:619781" "MEDGEN:1806812" - "PMID:33204752" "Orphanet:306750" "NCIT:C6835" "EFO:1000455" "MEDGEN:235462" "MONDO:0006353" "UMLS:C1335343" - "NCIt:C116641" "icd11.foundation:476391827" "MESH:D058186" "UMLS:C2609414" @@ -51187,6 +51052,7 @@ "ICD10CM:N17" "DOID:3021" "PMID:37794183" + "NCIt:C116641" "SCTID:399617002" "UMLS:C0869523" "MEDGEN:163689" @@ -51306,8 +51172,6 @@ "FMA:84646" "UMLS:C4023155" "RGD:737932" - "OMIM:607016" - "ICD10:E76.0" "MEDGEN:396208" "ICD10EXP:I68.0*" "ICD10EXP:E85.4+" @@ -51318,11 +51182,13 @@ "OMIM:117300" "Orphanet:97346" "DOID:0070030" - "MeSH:D013280" + "OMIM:607016" + "ICD10:E76.0" "SNOMEDCT_US:272030005" "SNOMEDCT_US:309585006" "UMLS:C0039070" "SNOMEDCT_US:271594007" + "MeSH:D013280" "Orphanet:580" "OMIM:309900" "NORD:1255" @@ -51462,22 +51328,10 @@ "MEDGEN:333014" "DOID:0050600" "OMIM:600501" - "SNOMEDCT:445559002" "MEDGEN:79186" "UMLS:C0280801" "NCIT:C38938" - "icd11.foundation:1776831202" - "Orphanet:199348" - "OMIM:607483" - "SCTID:723557004" - "MEDGEN:375289" - "SCTID:703522009" - "Orphanet:65284" - "GARD:10237" - "UMLS:C1843807" - "ICD9:333.99" - "DOID:0050659" - "MESH:C537658" + "SNOMEDCT:445559002" "UMLS:C0008441" "ICDO:9230/0" "GARD:0006047" @@ -51498,6 +51352,18 @@ "ICD9:154.3" "UMLS:C0153446" "SCTID:363352004" + "icd11.foundation:1776831202" + "Orphanet:199348" + "OMIM:607483" + "SCTID:723557004" + "MEDGEN:375289" + "SCTID:703522009" + "Orphanet:65284" + "GARD:10237" + "UMLS:C1843807" + "ICD9:333.99" + "DOID:0050659" + "MESH:C537658" "PMID:27984732" "Orphanet:466729" "PMID:35347128" @@ -51775,13 +51641,6 @@ "DOID:1099" "ICD10:D56.0" "UMLS:C0002312" - "OMIM:620726" - "GARD:17590" - "MEDGEN:862791" - "DOID:0060278" - "UMLS:C4014354" - "OMIM:615809" - "Orphanet:369920" "Orphanet:3110" "UMLS:C1867147" "GARD:0004738" @@ -51789,6 +51648,13 @@ "MESH:C535870" "SCTID:721904001" "ICD10:L98.8" + "OMIM:620726" + "GARD:17590" + "MEDGEN:862791" + "DOID:0060278" + "UMLS:C4014354" + "OMIM:615809" + "Orphanet:369920" "TAO:0005007" "Wikipedia:Aortic_arches#Arch_3" "SCTID:308776001" @@ -51921,8 +51787,8 @@ "UMLS:C0271844" "NCIT:C3989" "NCIt:C3989" - "MONDO:0006354" "MEDGEN:75767" + "MONDO:0006354" "SCTID:9092004" "MedDRA:10079611" "MAT:0000351" @@ -52107,7 +51973,6 @@ "Reaxys:220729" "PMID:22015589" "SNOMEDCT:59338009" - "Beilstein:220729" "NCIt:C81143" "Wikipedia:Methapyrilene" "DrugBank:DB04819" @@ -52205,16 +52070,16 @@ "NCIT:C50577" "MONDO:0005252" "icd11.foundation:1458683894" - "GARD:2952" - "OMIMPS:308205" - "UMLS:C1839988" - "Orphanet:2273" - "MEDGEN:327007" "MEDGEN:65943" "SCTID:712989008" "NCIT:C7575" "UMLS:C0238031" "ONCOTREE:PT" + "GARD:2952" + "OMIMPS:308205" + "UMLS:C1839988" + "Orphanet:2273" + "MEDGEN:327007" "MEDGEN:929976" "UMLS:C4304307" "GARD:19882" @@ -52306,7 +52171,6 @@ "NCIt:C61739" "HMDB:HMDB0003406" "PMID:11864625" - "Beilstein:1721403" "PMID:22128843" "PMID:22280157" "ECMDB:ECMDB03406" @@ -52360,18 +52224,18 @@ "OMIM:277380" "Orphanet:391381" "HMDB:0041537" - "ICD9:375.89" - "MEDGEN:5994" - "MONDO:0001854" + "ICD9:375.69" "UMLS:C0022904" + "DOID:1400" "ICD9:375" - "ICD10:H04" - "ICD9:375.69" + "ICD9:375.89" + "MEDGEN:5994" "NCIT:C26809" + "MONDO:0001854" "SCTID:31053003" + "ICD10:H04" "MESH:D007766" "ICD9:375.9" - "DOID:1400" "OMIM:161050" "ICD10:L60.3" "DOID:11389" @@ -52380,8 +52244,8 @@ "MedDRA:10042360" "MESH:D013354" "SNOMEDCT:37660004" - "MeSH:D013354" "SCTID:37660004" + "MeSH:D013354" "MEDGEN:52531" "GARD:12539" "Orphanet:206559" @@ -52389,12 +52253,12 @@ "DOID:0110298" "OMIM:613158" "UMLS:C3150418" - "PMID:35347128" "MONDO:0005755" "MESH:D004859" "MeSH:D004859" "NCIT:C84694" "DOID:5002" + "PMID:35347128" "Orphanet:502430" "MEDGEN:1799530" "GARD:22047" @@ -52454,7 +52318,6 @@ "PMID:11983812" "UM-BBD_compID:c0047" "Gmelin:329219" - "Beilstein:3588079" "Reaxys:3588079" "DOID:2843" "SNOMEDCT:111975006" @@ -52465,13 +52328,13 @@ "NCIt:C34786" "UMLS:C0151878" "MO:912" + "CAS:25550-58-7" "SCTID:737223000" "NCIT:C27260" "Orphanet:98289" "UMLS:C5681852" "MEDGEN:1842732" "GARD:8317" - "CAS:25550-58-7" "PMID:29875488" "MEDGEN:1662294" "GARD:20501" @@ -52513,14 +52376,6 @@ "ONCOTREE:CECC" "EFO:1000163" "MEDGEN:234113" - "PMID:36168886" - "NCIT:C112181" - "MeSH:D014005" - "DOID:12404" - "MedDRA:10043864" - "MONDO:0005982" - "UMLS:C0040247" - "MEDGEN:52757" "NCIT:C53971" "HP:0010736" "MESH:D005358" @@ -52532,6 +52387,13 @@ "ICD10CM:Q78.1" "SCTID:89859004" "MEDGEN:42020" + "NCIT:C112181" + "MeSH:D014005" + "DOID:12404" + "MedDRA:10043864" + "MONDO:0005982" + "UMLS:C0040247" + "MEDGEN:52757" "Orphanet:1486" "UMLS:C1854664" "SCTID:715418007" @@ -52545,6 +52407,7 @@ "MEDGEN:154721" "DOID:484" "UMLS:C0600502" + "PMID:36168886" "EV:0100037" "UMLS:C0028429" "MIAA:0000139" @@ -52698,11 +52561,11 @@ "MAT:0000358" "SNOMEDCT:75505008" "NCIt:C79681" + "PMID:23823483" + "PMID:37596262" "ICD10:Q87.8" "OMIM:155145" "UMLS:C1835087" - "PMID:23823483" - "PMID:37596262" "Wikipedia:Nasopharynx" "NCIT:C12423" "EMAPA:17670" @@ -53080,7 +52943,6 @@ "PMID:9894829" "PMID:17218050" "PMID:15056805" - "Beilstein:1301486" "PMID:23358140" "CAS:303-47-9" "PMID:11513689" @@ -53219,12 +53081,12 @@ "DOID:10655" "UMLS:C0940607" "MEDGEN:182652" - "ICD10:E66.8" "MEDGEN:1672817" "ICD10CM:Q78.0" "UMLS:C5190607" "Orphanet:314029" "GARD:21366" + "ICD10:E66.8" "NCIT:C5777" "EFO:1000248" "MONDO:0006203" @@ -53630,7 +53492,6 @@ "MESH:C564178" "HP:0006837" "ICD10:I89.0" - "PMID:35995766" "EFO:0000553" "ONCOTREE:ILC" "MONDO:0005051" @@ -53639,6 +53500,7 @@ "NCIT:C7950" "UMLS:C0279565" "MEDGEN:75994" + "PMID:35995766" "PMID:25383968" "PMID:33204752" "Wikipedia:stenosis" @@ -53721,7 +53583,6 @@ "PMID:11395292" "PMID:18448060" "PMID:16259581" - "Beilstein:3628192" "PMID:19937171" "PMID:19236757" "MONDO:0005585" @@ -53773,7 +53634,6 @@ "Reaxys:4699705" "PMID:23235653" "PMID:23436109" - "Beilstein:4699705" "KNApSAcK:C00018229" "PMID:22112818" "PMID:22310224" @@ -53884,7 +53744,6 @@ "SCTID:363426009" "NCIT:C3541" "Reactome:R-HSA-3165230" - "RHEA:35015" "PMID:37164013" "NCIt:C13122" "BTO:0001164" @@ -54094,7 +53953,6 @@ "MEDGEN:398476" "UMLS:C2700405" "DOID:0110956" - "EHDAA2:0001834" "SCTID:361103004" "EMAPA:17421" "GAID:60" @@ -54110,6 +53968,7 @@ "MESH:D012782" "EFO:0003068" "EHDAA:6228" + "EHDAA2:0001834" "DOID:0081420" "UMLS:C1858477" "GARD:13295" @@ -54279,6 +54138,7 @@ "Orphanet:71864" "MEDGEN:1842600" "GARD:18917" + "UMLS:C4025183" "MEDGEN:226970" "icd11.foundation:1533647472" "DOID:0111154" @@ -54317,7 +54177,6 @@ "MedDRA:10017842" "MedDRA:10055794" "icd11.foundation:1437411258" - "UMLS:C4025183" "OMIM:614702" "MEDGEN:1664257" "DOID:0111480" @@ -54334,7 +54193,6 @@ "MetaCyc:CPD-3617" "KEGG:C01571" "Gmelin:330643" - "Beilstein:3538146" "PMID:37794183" "PMID:28240269" "UMLS:C0391826" @@ -55498,6 +55356,14 @@ "NCIT:C8053" "Orphanet:35808" "GARD:18816" + "PMID:30368896" + "GARD:12720" + "icd11.foundation:1251733531" + "UMLS:C1844560" + "OMIM:305550" + "Orphanet:97232" + "MESH:C564425" + "MEDGEN:337026" "SNOMEDCT:109333005" "NCIt:C63707" "MEDGEN:10500" @@ -55508,14 +55374,6 @@ "MedDRA:10067352" "MONDO:0043735" "NCIT:C63707" - "PMID:30368896" - "GARD:12720" - "icd11.foundation:1251733531" - "UMLS:C1844560" - "OMIM:305550" - "Orphanet:97232" - "MESH:C564425" - "MEDGEN:337026" "PMID:29875488" "PMID:29875488" "PMID:30992453" @@ -55657,6 +55515,11 @@ "UMLS:C0237326" "SNOMEDCT_US:225595004" "PMID:29875488" + "GARD:17351" + "UMLS:C4751125" + "MEDGEN:1659106" + "Orphanet:293958" + "OMIM:614187" "UMLS:C0271429" "SNOMEDCT_US:3110003" "ICD10:R29" @@ -55664,11 +55527,6 @@ "SNOMEDCT_US:88425004" "SNOMEDCT:392389001" "NCIt:C77095" - "GARD:17351" - "UMLS:C4751125" - "MEDGEN:1659106" - "Orphanet:293958" - "OMIM:614187" "UMLS:C5676920" "MEDGEN:1809613" "OMIM:619752" @@ -55743,8 +55601,8 @@ "EMAPA:18222" "EFO:0002559" "EHDAA:5623" - "SCTID:279281007" "MA:0001136" + "SCTID:279281007" "FMA:6964" "DOID:3184" "UMLS:C0346295" @@ -56095,7 +55953,6 @@ "UMLS:C3494181" "PMID:20926004" "MetaCyc:DI-H-URACIL" - "Beilstein:112496" "KEGG:C00429" "PMID:18619742" "CAS:504-07-4" @@ -56340,6 +56197,8 @@ "BTO:0003709" "RRID:CVCL_3791" "CLO:0008905" + "OMIM:611597" + "ICD10:Q12.0" "OMIM:616721" "OMIM:617395" "DOID:0050571" @@ -56352,8 +56211,6 @@ "OMIM:616829" "MESH:C535747" "MONDO:0005501" - "OMIM:611597" - "ICD10:Q12.0" "BTO:0002045" "NCIt:C12685" "SCTID:26682008" @@ -56484,8 +56341,8 @@ "UMLS:C0152302" "FMA:61896" "BTO:0004354" - "HBA:4085" "NCIT:C33346" + "HBA:4085" "DHBA:12132" "SCTID:279167001" "BIRNLEX:1070" @@ -56521,14 +56378,14 @@ "MEDGEN:1684719" "UMLS:C5231477" "OMIM:618727" + "MEDGEN:209090" "UMLS:C0877015" + "MONDO:0000082" + "MeSH:D056887" + "SCTID:237113009" "MESH:D056887" "SNOMEDCT:237113009" - "SCTID:237113009" "icd11.foundation:148580117" - "MEDGEN:209090" - "MeSH:D056887" - "MONDO:0000082" "NCIT:C33204" "MIAA:0000116" "BTO:0001362" @@ -56558,7 +56415,6 @@ "Orphanet:268740" "Reaxys:3903940" "MetaCyc:CPD-7619" - "Beilstein:3903940" "Gmelin:327115" "CAS:7563-37-3" "PMID:16141384" @@ -56657,7 +56513,6 @@ "VSDB:1887" "KEGG:D00554" "HMDB:HMDB0001926" - "Beilstein:2419975" "CAS:57-63-6" "Reaxys:2419975" "PMID:20189629" @@ -56802,9 +56657,9 @@ "PMID:32641083" "PMID:27702941" "PMID:24816252" + "PMID:23823483" "Orphanet:79375" "UMLS:C0162834" - "PMID:23823483" "Orphanet:90044" "SCTID:717254007" "OMIM:609153" @@ -56826,6 +56681,7 @@ "Orphanet:99846" "MEDGEN:320384" "MESH:C563546" + "HMDB:0032740" "NCIT:C6542" "MEDGEN:272471" "DOID:6161" @@ -56834,7 +56690,7 @@ "UMLS:C0205650" "DOID:3172" "MEDGEN:59999" - "HMDB:0032740" + "MP:0004883" "MEDGEN:52426" "icd11.foundation:22873958" "ICD9:123.5" @@ -56846,7 +56702,6 @@ "ICD10CM:B70.1" "NCIT:C35030" "MESH:D013031" - "MP:0004883" "PMID:24816252" "PMID:28099430" "MESH:C564715" @@ -57308,6 +57163,7 @@ "GARD:6042" "icd11.foundation:1253728223" "MEDGEN:87521" + "PMID:28240269" "UMLS:C5679727" "MEDGEN:1826046" "icd11.foundation:186065235" @@ -57320,7 +57176,6 @@ "Orphanet:399808" "MEDGEN:1643966" "PMID:37794183" - "PMID:28240269" "GARD:6734" "MedDRA:10049933" "NANDO:2201012" @@ -57380,12 +57235,12 @@ "NIF_Subcellular:sao1881364067" "Wikipedia:Endoplasmic_reticulum#Rough_endoplasmic_reticulum" "PMID:35347128" - "PMID:30959515" - "PMID:16708394" " CLO:0008750" "RRID:CVCL_0513" "BTO:0002874" "CLO:0008749" + "PMID:30959515" + "PMID:16708394" "SNOMEDCT_US:79890006" "UMLS:C0003123" "UMLS:C0016242" @@ -57438,7 +57293,6 @@ "ICD10:E85.0+" "ICD10:L99.0*" "OMIM:301220" - "ICD9:683" "NCIT:C26821" "MEDGEN:7410" "DOID:1602" @@ -57448,6 +57302,7 @@ "MESH:D008199" "HP:0002840" "icd11.foundation:1483611415" + "ICD9:683" "PMID:37794183" "ICD10:G31.8" "UMLS:C0796074" @@ -57464,7 +57319,6 @@ "Reaxys:1723525" "CAS:3130-87-8" "KEGG:C16438" - "Beilstein:1723525" "PMID:22264337" "Wikipedia:Asparagine" "OMIM:312170" @@ -57780,10 +57634,6 @@ "Orphanet:98964" "OMIM:122200" "GARD:9678" - "DOID:5351" - "MEDGEN:275291" - "UMLS:C1518727" - "NCIT:C39986" "ICD10:E40" "MONDO:0006826" "DOID:13579" @@ -57797,13 +57647,17 @@ "SNOMEDCT:58262005" "MeSH:D007732" "MEDGEN:7233" + "DOID:5351" + "MEDGEN:275291" + "UMLS:C1518727" + "NCIT:C39986" + "PMID:35347128" "PMID:28924203" "MEDGEN:900126" "GARD:16640" "SCTID:717633007" "UMLS:C4273897" "Orphanet:36367" - "PMID:35347128" "UMLS:C0266268" "icd11.foundation:240534435" "Orphanet:674" @@ -57935,10 +57789,10 @@ "Orphanet:224" "PMID:37794183" "MedDRA:10052362" - "PMID:28240269" "OMIM:618878" "MEDGEN:1719764" "UMLS:C5394371" + "PMID:28240269" "UMLS:C2749477" "OMIM:257850" "MESH:C567605" @@ -58030,6 +57884,14 @@ "UMLS:C0233514" "HP:0000708" "SNOMEDCT_US:25786006" + "OMIM:619858" + "MEDGEN:1803642" + "UMLS:C5676977" + "UMLS:C3280073" + "OMIM:614188" + "GARD:17309" + "MEDGEN:481703" + "Orphanet:284149" "UMLS:C0023283" "ICD9:085.2" "MedDRA:10011668" @@ -58048,14 +57910,6 @@ "MedDRA:10011670" "icd11.foundation:124737785" "ICD10CM:B55.1" - "OMIM:619858" - "MEDGEN:1803642" - "UMLS:C5676977" - "UMLS:C3280073" - "OMIM:614188" - "GARD:17309" - "MEDGEN:481703" - "Orphanet:284149" "UMLS:C1858420" "MEDGEN:346902" "MESH:C565782" @@ -58094,9 +57948,9 @@ "Wikipedia:Cerebral_hemisphere" "UMLS:C0228174" "AAO:0010480" + "galen:CerebralHemisphere" "BAMS:HEM" "NCIT:C12351" - "galen:CerebralHemisphere" "EMAPA:16653" "UMLS:C0242202" "BTO:0000231" @@ -58409,7 +58263,6 @@ "UMLS:C4722524" "NCIT:C7387" "MEDGEN:1651181" - "Beilstein:768345" "CAS:19216-56-9" "Reaxys:768345" "Drug_Central:4209" @@ -58587,7 +58440,6 @@ "PMID:12593758" "PMID:23555556" "PDBeChem:MOI" - "Beilstein:93704" "PMID:23325235" "KEGG:C01516" "PMID:20071451" @@ -58956,7 +58808,6 @@ "PMID:16659660" "PMID:8869828" "PMID:9730350" - "Beilstein:1900390" "KEGG:D00004" "PMID:29875488" "PMID:27184079" @@ -58980,7 +58831,6 @@ "UMLS:C4023795" "PMID:35347128" "PMID:37794183" - "PMID:29875488" "BTO:0001154" "CLO:0008734" "RRID:CVCL_0511" @@ -58996,6 +58846,7 @@ "MESH:D003715" "Orphanet:99828" "UMLS:C0011311" + "PMID:29875488" "SNOMEDCT:405582003" "MedDRA:10050404" "UMLS:C4072825" @@ -59007,14 +58858,14 @@ "DOID:0070454" "OMIM:620323" "PMID:26068415" - "SNOMEDCT:70106000" - "NCIt:C616" - "KEGG:C01356" - "MeSH:D008055" "DOID:6162" "MEDGEN:272470" "NCIT:C6545" "UMLS:C1333007" + "SNOMEDCT:70106000" + "NCIt:C616" + "KEGG:C01356" + "MeSH:D008055" "GARD:21055" "UMLS:C5679778" "Orphanet:276585" @@ -59366,7 +59217,6 @@ "SCTID:88157006" "UMLS:C0036130" "GAZ:00002801" - "Beilstein:3739464" "Reaxys:3739464" "DrugBank:DB02691" "KEGG:C01921" @@ -59450,9 +59300,6 @@ "GARD:18981" "Orphanet:79226" "MEDGEN:1842986" - "MEDGEN:233147" - "UMLS:C1334571" - "NCIT:C6758" "OMIM:169400" "UMLS:C0030779" "SCTID:85559002" @@ -59466,6 +59313,9 @@ "MeSH:D010381" "MESH:D010381" "MedDRA:10029377" + "MEDGEN:233147" + "UMLS:C1334571" + "NCIT:C6758" "Orphanet:75840" "UMLS:C4551860" "NANDO:2200862" @@ -59506,6 +59356,8 @@ "Orphanet:1252" "PMID:26068415" "MedDRA:10000381" + "ICD10:Q82.2" + "OMIM:248910" "HMDB:0033438" "GARD:4633" "MESH:C535281" @@ -59514,8 +59366,6 @@ "Orphanet:3016" "UMLS:C1839410" "UMLS:C1865060" - "ICD10:Q82.2" - "OMIM:248910" "PMID:37794183" "MONDO:0006987" "UMLS:C0340375" @@ -59564,12 +59414,12 @@ "NCIT:C6906" "DOID:2129" "PMID:35347128" - "SCTID:735082004" - "NCIT:C7752" "BTO:0000358" " CLO:0007595" "RRID:CVCL_0444" "CLO:0007594" + "SCTID:735082004" + "NCIT:C7752" "PMID:24373199" "UMLS:C4330050" "NCIT:C132505" @@ -59885,7 +59735,6 @@ "Orphanet:359" "SNOMEDCT_US:85828009" "UMLS:C0004364" - "PMID:37794183" "SCTID:407675009" "MEDGEN:43169" "DOID:12382" @@ -59894,6 +59743,7 @@ "MESH:D017029" "ICD9:345.40" "MeSH:D017029" + "PMID:37794183" "PMID:28240269" "UMLS:C4748120" "MEDGEN:1648308" @@ -60007,6 +59857,9 @@ "MeSH:C536563" "OMIM:174500" "ICD10:Q74.8" + "SNOMEDCT:34254002" + "FMA:84196" + "ZFA:0009257" "SCTID:703406006" "UMLS:C1857276" "DOID:0111414" @@ -60022,9 +59875,6 @@ "DOID:0080058" "GARD:17516" "SCTID:763351003" - "SNOMEDCT:34254002" - "FMA:84196" - "ZFA:0009257" "PMID:35347128" "UMLS:C0238395" "SNOMEDCT_US:111332007" @@ -60107,9 +59957,9 @@ "MEDGEN:274381" "DOID:138" "UMLS:C1519931" - "PMID:37794183" "NANDO:2200843" "Orphanet:139390" + "PMID:37794183" "UMLS:C0037118" "ICD9:502" "MESH:D012830" @@ -60189,12 +60039,6 @@ "OMIM:616839" "MeSH:D000886" "FBdv:00005291" - "DOID:6846" - "MEDGEN:268851" - "UMLS:C1512419" - "Orphanet:618" - "GARD:3460" - "NCIT:C8498" "SCTID:723502001" "UMLS:C1867332" "MESH:C564844" @@ -60205,6 +60049,12 @@ "ICD10CM:H35.5" "MESH:C566721" "Orphanet:99002" + "DOID:6846" + "MEDGEN:268851" + "UMLS:C1512419" + "Orphanet:618" + "GARD:3460" + "NCIT:C8498" "UMLS:C0342474" "SCTID:44231009" "OMIM:201710" @@ -60596,11 +60446,11 @@ "OMIM:101850" "UMLS:C0545044" "HMDB:0037285" - "PMID:35347128" "GARD:18537" "OMIM:619125" "UMLS:C5436856" "MEDGEN:1725501" + "PMID:35347128" "HMDB:0035701" "RRID:CVCL_D755" "icd11.foundation:1755751917" @@ -60880,15 +60730,6 @@ "Orphanet:664438" "UMLS:C5231479" "OMIM:618729" - "DOID:11716" - "NCIt:C122685" - "MESH:D011236" - "MEDGEN:83928" - "MONDO:0006920" - "MedDRA:10065542" - "UMLS:C0362046" - "MeSH:D011236" - "NCIT:C122685" "UMLS:C1567426" "Orphanet:97363" "MEDGEN:292613" @@ -60911,6 +60752,15 @@ "MedDRA:10029885" "ICD10:E66" "ICD9:278.0" + "DOID:11716" + "NCIt:C122685" + "MESH:D011236" + "MEDGEN:83928" + "MONDO:0006920" + "MedDRA:10065542" + "UMLS:C0362046" + "MeSH:D011236" + "NCIT:C122685" "OMIM:143095" "SCTID:702400006" "MESH:C537283" @@ -60931,6 +60781,7 @@ "icd11.foundation:2095672409" "Orphanet:141127" "SCTID:9660004" + "PMID:36168886" "MEDGEN:481294" "Orphanet:3226" "GARD:13030" @@ -60938,7 +60789,6 @@ "OMIM:614038" "SCTID:700057001" "ICD9:757.0" - "PMID:36168886" "SNOMEDCT:26352009" "MeSH:D018051" "SNOMEDCT:232053004" @@ -61060,18 +60910,17 @@ "Orphanet:79178" "MEDGEN:1842427" "PMID:35697867" - "Wikipedia:Adenosine_triphosphate" - "Beilstein:73010" - "CAS:56-65-5" - "DrugBank:DB00171" - "PDBeChem:ATP" "KNApSAcK:C00001491" - "HMDB:HMDB0000538" - "Patent:US3079379" - "KEGG:D08646" "Drug_Central:91" - "KEGG:C00002" + "PDBeChem:ATP" + "Patent:US3079379" + "HMDB:HMDB0000538" "Reaxys:73010" + "KEGG:C00002" + "DrugBank:DB00171" + "CAS:56-65-5" + "Wikipedia:Adenosine_triphosphate" + "KEGG:D08646" "Gmelin:34857" "UMLS:C0018772" "SNOMEDCT_US:103276001" @@ -61116,21 +60965,20 @@ "MESH:C537878" "GARD:9873" "OMIM:130720" - "MeSH:D000450" - "LIPID_MAPS_instance:LMST02030026" - "KEGG:C01780" - "Drug_Central:111" - "SNOMEDCT:42605004" - "Wikipedia:Aldosterone" - "PDBeChem:AS4" + "HMDB:HMDB0000037" "DrugBank:DB04630" "NCIt:C219" + "PMID:10438974" "Reaxys:3224996" - "HMDB:HMDB0000037" + "SNOMEDCT:42605004" "CAS:52-39-1" + "LIPID_MAPS_instance:LMST02030026" + "Wikipedia:Aldosterone" + "Drug_Central:111" + "PDBeChem:AS4" + "MeSH:D000450" "LINCS:LSM-42770" - "Beilstein:3224996" - "PMID:10438974" + "KEGG:C01780" "ICD10:E72.1" "OMIM:250850" "OMIM:218010" @@ -61322,7 +61170,6 @@ "Wikipedia:Neural_development#Neuron_migration" "Wikipedia:Neuron_migration" "Wikipedia:Galactose" - "Beilstein:3915750" "Reaxys:3915750" "UMLS:C0393588" "MEDGEN:97951" @@ -61466,7 +61313,6 @@ " CLO:0002462" "BTO:0000457" "Reaxys:4127635" - "Beilstein:4127635" "OMIM:242700" "MedDRA:10043662" "ICD10:D81.4" @@ -61637,7 +61483,6 @@ "NCIT:C3349" "MESH:D011855" "RHEA:24408" - "EC:3.5.4.4" "MetaCyc:ADENODEAMIN-RXN" "Reactome:R-HSA-5693346" "ICD10:I44" @@ -61743,7 +61588,6 @@ "PMID:7295463" "Reaxys:2948416" "Patent:US4012444" - "Beilstein:2948416" "Patent:DE2032642" "PMID:33638710" "PMID:33424327" @@ -61821,7 +61665,6 @@ "NIST Chemistry WebBook:75-91-2" "CAS:75-91-2" "PMID:22337620" - "Beilstein:1098280" "CiteXplore:22039964" "ChEMBL:365419" "CiteXplore:21418283" @@ -61928,9 +61771,6 @@ "MEDGEN:462815" "UMLS:C3151465" "OMIM:614024" - "PO:0020031" - "MAT:0000415" - "BTO:0001152" "SNOMEDCT:85005007" "DOID:9505" "NCIt:C34445" @@ -61953,6 +61793,9 @@ "MedDRA:10007177" "ICD9:304.3" "MedDRA:10007179" + "PO:0020031" + "MAT:0000415" + "BTO:0001152" "MO:859" "MEDGEN:384006" "GARD:16639" @@ -61966,22 +61809,22 @@ "DOID:0050739" "SCTID:1899006" "ICD9:758.5" - "MedDRA:10010783" - "MeSH:D010494" "NANDO:2100064" - "NANDO:2200239" - "MONDO:0006711" - "UMLS:C0031048" - "icd11.foundation:1722995229" "HP:0002563" - "NCIT:C78246" + "UMLS:C0031048" + "MeSH:D010494" "ICD9:423.2" - "SNOMEDCT:85598007" "MEDGEN:18378" + "NCIT:C78246" + "icd11.foundation:1722995229" + "MONDO:0006711" "DOID:11481" - "SCTID:85598007" + "SNOMEDCT:85598007" + "MedDRA:10010783" "NCIt:C78246" + "NANDO:2200239" "MESH:D010494" + "SCTID:85598007" "ICD10:H11.15" "MedDRA:10035060" "SNOMEDCT:87614000" @@ -62133,6 +61976,7 @@ "NCIt:C16629" "MeSH:D016678" "Orphanet:140456" + "PMID:24816252" "NANDO:1200649" "DOID:0080734" "NCIT:C125700" @@ -62144,7 +61988,6 @@ "OMIM:225400" "SCTID:718211004" "NANDO:2201259" - "PMID:24816252" "GARD:21225" "icd11.foundation:1709221347" "Orphanet:295229" @@ -62194,12 +62037,6 @@ "MEDGEN:1843430" "UMLS:C5704669" "Orphanet:226310" - "CALOHA:TS-2106" - "FMA:14969" - "UMLS:C0734203" - "NCIT:C32926" - "MA:0002688" - "EMAPA:35467" "DOID:2731" "Wikipedia:Vesiculobullous_disease" "MEDGEN:20778" @@ -62207,6 +62044,12 @@ "MeSH:D012872" "MONDO:0006617" "MESH:D012872" + "CALOHA:TS-2106" + "FMA:14969" + "UMLS:C0734203" + "NCIT:C32926" + "MA:0002688" + "EMAPA:35467" "MESH:D007713" "ICD9:758.81" "MEDGEN:75573" @@ -62261,16 +62104,6 @@ "OMIM:241760" "DOID:5532" "NCIT:C40092" - "EFO:1000657" - "DOID:1993" - "UMLS:C0949022" - "SCTID:363351006" - "MedDRA:10038038" - "ICD9:154.1" - "MONDO:0006519" - "ICD10:C20" - "NCIT:C7418" - "MEDGEN:181763" "ICD9:495.8" "MESH:D000542" "MEDGEN:1446" @@ -62286,6 +62119,16 @@ "GARD:12" "MedDRA:10001890" "NCIT:C34369" + "EFO:1000657" + "DOID:1993" + "UMLS:C0949022" + "SCTID:363351006" + "MedDRA:10038038" + "ICD9:154.1" + "MONDO:0006519" + "ICD10:C20" + "NCIT:C7418" + "MEDGEN:181763" "MEDGEN:233658" "DOID:7639" "UMLS:C1334575" @@ -62302,8 +62145,8 @@ "GARD:4085" "MEDGEN:388129" "BTO:0000231" - "PMID:28878392" "PMID:29875488" + "PMID:28878392" "PMID:35347128" "SNOMEDCT:430749000" "NCIt:C102259" @@ -62589,23 +62432,23 @@ "ICD10:N15.8" "UMLS:C0268450" "MedDRA:10062906" + "ICD10:Q93.5" + "MeSH:C538316" + "UMLS:C2931816" "UMLS:C5681710" "GARD:19464" "ICD10CM:D53.0" "Orphanet:98415" "MEDGEN:1842832" - "ICD10:Q93.5" - "MeSH:C538316" - "UMLS:C2931816" "PMID:29875488" + "Orphanet:95161" + "RRID:CVCL_3712" + "CLO:0003772" "DOID:3187" "NCIT:C9377" "UMLS:C0346286" "MEDGEN:91095" "SCTID:254940005" - "RRID:CVCL_3712" - "CLO:0003772" - "Orphanet:95161" "ICD10:K10" "NCIT:C66758" "UMLS:C0206738" @@ -62858,7 +62701,6 @@ "MESH:C536344" "UM-BBD_compID:c0211" "Reaxys:3539899" - "Beilstein:3539899" "MetaCyc:PHENYLACETATE" "Gmelin:327522" "ICD10:E75.2" @@ -62885,7 +62727,6 @@ "UMLS:C0028756" "SNOMEDCT:238136002" "MESH:D009767" - "PMID:24563282" "MEDGEN:5654" "NCIT:C82342" "icd11.foundation:2132180242" @@ -62900,6 +62741,7 @@ "Orphanet:399" "ICD9:333.4" "NANDO:1200012" + "PMID:24563282" "SNOMEDCT:1212005" "MESH:C538250" "MedDRA:10078425" @@ -62917,13 +62759,13 @@ "NANDO:2200418" "MedDRA:10008521" "SCTID:1212005" + "RRID:CVCL_6804" "MEDGEN:814727" "OMIM:614039" "DOID:0090137" "Orphanet:300570" "UMLS:C3808397" "GARD:13032" - "RRID:CVCL_6804" "PMID:36168886" "NCIT:C33314" "Wikipedia:Peroneal_artery" @@ -63376,10 +63218,10 @@ "OMIM:151630" "SCTID:722034006" "GARD:3440" - "NCIt:C15222" - "MeSH:D004032" "Medgen:C3887501" "OMIM:608709" + "NCIt:C15222" + "MeSH:D004032" "PMID:25953818" "FBdv:00005349" "Wikipedia:Pupa" @@ -63736,10 +63578,10 @@ "UMLS:C0154040" "MEDGEN:56330" "NCIT:C3629" + "OMIM:192315" "UMLS:C3809874" "OMIM:615545" "MEDGEN:816204" - "OMIM:192315" "https://catalog.coriell.org" "Orphanet:98963" "MESH:C535474" @@ -63821,11 +63663,11 @@ "SCTID:236746000" "MEDGEN:588642" "UMLS:C0403764" - "OMIM:608779" - "ICD10:E77.8" "MeSH:D000728" "SNOMEDCT:84629008" "NCIt:C2298" + "OMIM:608779" + "ICD10:E77.8" "PMID:37794183" "NCIt:C34753" "MedDRA:10049032" @@ -64163,7 +64005,6 @@ "HMDB:HMDB0000039" "PMID:19703412" "PMID:22339023" - "Beilstein:906770" "PDBeChem:BUA" "DrugBank:DB03568" "LIPID_MAPS_instance:LMFA01010004" @@ -64276,7 +64117,6 @@ "NCIt:C86380" "UMLS:C3554241" "OMIM:614972" - "Beilstein:1810811" "PMID:24630253" "Reaxys:1810811" "PMID:24367824" @@ -64401,7 +64241,6 @@ "PMID:29875488" "KNApSAcK:C00000853" "Wikipedia:Myrcene" - "Beilstein:1719990" "NCIt:C95164" "KEGG:C06074" "PMID:25503374" @@ -64528,12 +64367,12 @@ "OMIM:164280" "ICD10:Q87.8" "PMID:29875488" + "PMID:32641083" "MEDGEN:488851" "ICD9:242.00" "UMLS:C0342122" "SCTID:267374005" "DOID:10719" - "PMID:32641083" "FMA:70550" "ZFA:0009033" "BTO:0001724" @@ -64623,6 +64462,8 @@ "NORD:1319" "ICD10CM:E23.0" "MESH:D017436" + "OMIM:300643" + "OMIM:245570" "OMIM:300987" "SCTID:722037004" "MESH:C537451" @@ -64633,8 +64474,6 @@ "OMIM:300148" "icd11.foundation:500681653" "Orphanet:85282" - "OMIM:300643" - "OMIM:245570" "ChemIDplus:322-35-0" "CiteXplore:12703659" "LINCS:LSM-5097" @@ -64723,7 +64562,6 @@ "Reaxys:1722296" "KNApSAcK:C00001384" "PMID:15449570" - "Beilstein:1722296" "PMID:22264337" "CAS:616-07-9" "Gmelin:847696" @@ -65118,7 +64956,6 @@ "KEGG:C00208" "Reaxys:1292747" "PMID:22411612" - "Beilstein:1292747" "KEGG:G00275" "PMID:22424089" "PMID:22252265" @@ -65240,7 +65077,6 @@ "GARD:20849" "Orphanet:262638" "MESH:C537941" - "ICD10:Q18.8" "MA:0000717" "MeSH:D004727" "MeSH:D004730" @@ -65252,6 +65088,7 @@ "GARD:12409" "MEDGEN:370234" "MESH:C567040" + "ICD10:Q18.8" "MeSH:D048168" "Gmelin:386661" "MetaCyc:CPD-7830" @@ -65317,12 +65154,12 @@ "MeSH:D018221" "PMID:29875488" "Orphanet:364817" + "DOID:77" "UMLS:C0686172" "MEDGEN:673070" "SCTID:92624000" "ICD9:233.9" "DOID:9234" - "DOID:77" "SNOMEDCT:83830009" "Drug_Central:2279" "CAS:57-83-0" @@ -65338,7 +65175,6 @@ "PDBeChem:STR" "Wikipedia:Progesterone" "Reaxys:1915950" - "Beilstein:1915950" "MeSH:D011374" "Gmelin:708590" "NCIt:C73935" @@ -65535,6 +65371,7 @@ "NCIT:C131629" "UMLS:C0238120" "PMID:29875488" + "RRID:CVCL_A758" "GARD:0005528" "DOID:14515" "NCIT:C3718" @@ -65546,7 +65383,6 @@ "GARD:0001732" "UMLS:C0206115" "MESH:D017624" - "RRID:CVCL_A758" "OMIM:126700" "ICD10:H35.5" "OMIM:126600" @@ -65751,7 +65587,6 @@ "KEGG COMPOUND:C13377" "ChemIDplus:7487-94-7" "KEGG COMPOUND:7487-94-7" - "PMID:29875488" "PDBeChem:1N1" "PMID:19640584" "Reaxys:9966762" @@ -65790,6 +65625,7 @@ "GARD:1150" "OMIM:212500" "UMLS:C0220721" + "PMID:29875488" "ICD10:Q87.0" "OMIM:610951" "DOID:0110722" @@ -65940,6 +65776,7 @@ "SNOMEDCT:439180005" "NCIt:C12782" "FMA:7574" + "SNOMEDCT:32095005" "UMLS:C0349538" "DOID:14145" "MONDO:0006081" @@ -65948,12 +65785,11 @@ "MEDGEN:91151" "ONCOTREE:ARMM" "NCIT:C4639" - "SNOMEDCT:32095005" - "PMID:35347128" "BTO:0000454" "CLO:0001356" "RRID:CVCL_0601" " CLO:0050525" + "PMID:35347128" "Reaxys:1725444" "HMDB:HMDB0028907" "MEDGEN:199655" @@ -65982,9 +65818,9 @@ "Orphanet:52056" "MEDGEN:324890" "SCTID:719843001" + "Orphanet:98718" "PMID:37794183" "UMLS:C1859391" - "Orphanet:98718" "CSP:2049-9000" "DOID:0060054" "NCIT:C27033" @@ -66033,8 +65869,8 @@ "MEDGEN:816205" "GARD:15984" "UMLS:C3809875" - "PMID:37794183" "ICD10:H53.5" + "PMID:37794183" "OMIM:616395" "NCIT:C173099" "UMLS:C4017171" @@ -66338,10 +66174,10 @@ "Orphanet:238468" "HP:0007607" "ICD10:E85.1" + "NCIt:C4051" "MEDGEN:766782" "UMLS:C3553868" "OMIM:614849" - "NCIt:C4051" "NCIt:C27273" "MeSH:D057091" "SCTID:715820004" @@ -66354,7 +66190,6 @@ "CAS:64657-18-7" "PMID:16749796" "LIPID_MAPS_instance:LMPR0104030009" - "Beilstein:5304980" "Reaxys:5304980" "PMID:19831022" "DOID:0060403" @@ -66366,12 +66201,12 @@ "MESH:C563524" "GARD:5408" "Orphanet:97685" + "PMID:29875488" "SNOMEDCT:40415009" "NCIt:C25236" "MAT:0000491" "MeSH:D001105" "NCIt:C61092" - "PMID:29875488" "UMLS:C4025857" "UMLS:C1857078" "PMID:37794183" @@ -66379,10 +66214,10 @@ "HMDB:HMDB0011172" "PMID:22770225" "PMID:37794183" - "OMIM:103300" - "ICD10:Q87.2" "ICD10:E77.8" "OMIM:612015" + "OMIM:103300" + "ICD10:Q87.2" "UMLS:C1860130" "PMID:29875488" "UMLS:C5680608" @@ -66418,7 +66253,6 @@ "NCIt:C125664" "MONDO:0000675" "PMID:24816252" - "PMID:25695952" "OMIM:607323" "Orphanet:959" "Orphanet:93293" @@ -66429,6 +66263,7 @@ "DOID:0060747" "MEDGEN:301647" "SCTID:720415006" + "PMID:25695952" "SCTID:450956008" "MEDGEN:396324" "GARD:22348" @@ -66515,8 +66350,8 @@ "MAT:0000127" "MIAA:0000127" "NCIT:C12405" - "EV:0100113" "BTO:0001424" + "EV:0100113" "UMLS:C0042149" "MA:0000389" "VHOG:0001137" @@ -66627,7 +66462,6 @@ "Patent:NL6509961" "PMID:15383168" "Reaxys:5723476" - "Beilstein:5723476" "PMID:11600355" "PDBeChem:RFP" "Wikipedia:Rifampicin" @@ -66711,7 +66545,6 @@ "KEGG:C00379" "HMDB:HMDB0002917" "PMID:11154411" - "Beilstein:1720523" "PMID:16708791" "DrugBank:DB01904" "PMID:17216458" @@ -66777,7 +66610,6 @@ "Beilstein:2710227" "NCIt:C2303" "Reaxys:2710227" - "MetaCyc:CPD-10813" "KEGG:D08128" "NCIt:C907" "SNOMEDCT:61275002" @@ -67020,6 +66852,13 @@ "UMLS:C0153653" "Wikipedia:Dissociation_(psychology)" "PMID:30552317" + "UMLS:C1854978" + "MESH:C565370" + "MEDGEN:381529" + "GARD:18505" + "NCIT:C176908" + "OMIM:252270" + "PMID:29875488" "ICD10CM:M75.0" "ICD9:726.0" "MedDRA:10017391" @@ -67031,14 +66870,8 @@ "MESH:D002062" "UMLS:C0311223" "MONDO:0006763" - "UMLS:C1854978" - "MESH:C565370" - "MEDGEN:381529" - "GARD:18505" - "NCIT:C176908" - "OMIM:252270" - "PMID:29875488" "PMID:29875488" + "PMID:29875488" "PMID:8429917" "CiteXplore:8429917" "PMID:18718451" @@ -67075,7 +66908,6 @@ "MESH:C563963" "UMLS:C1838281" "OMIM:600302" - "PMID:29875488" "Orphanet:98039" "PMID:33283231" "SCTID:71779008" @@ -67217,7 +67049,6 @@ "CAS:69-23-8" "Reaxys:61643" "PMID:16839522" - "Beilstein:61643" "HMDB:HMDB0014761" "Drug_Central:1212" "EFO:1000178" @@ -67277,7 +67108,6 @@ "Gmelin:454510" "KEGG:C00315" "CAS:124-20-9" - "Beilstein:1698591" "PMID:1176793" "MetaCyc:SPERMIDINE" "PMID:22770225" @@ -67330,12 +67160,12 @@ "SNOMEDCT:88183001" "PMID:27918536" "NCIt:C12812" - "PMID:28369058" "SCTID:190953007" "ICD9:277.89" "MEDGEN:450540" "UMLS:C0268417" "OMIM:614044" + "PMID:28369058" "icd11.foundation:1867328407" "MEDGEN:322007" "UMLS:C1832669" @@ -67492,8 +67322,6 @@ "MEDGEN:343381" "SCTID:732961003" "UMLS:C1855551" - "Reaxys:7346679" - "Beilstein:7346679" "NANDO:2200672" "MEDGEN:749036" "OMIM:202400" @@ -67505,6 +67333,7 @@ "Orphanet:98880" "NCIT:C98130" "MESH:D000347" + "Reaxys:7346679" "DOID:14018" "NCIt:C34782" "SNOMEDCT:420054005" @@ -67757,14 +67586,14 @@ "ICD10:Q74.8" "UMLS:C1856789" "SNOMEDCT:420470004" - "BTO:0002183" - "RRID:CVCL_7109" "Orphanet:99960" "UMLS:C4551899" "GARD:10028" "DOID:0070231" "MEDGEN:1637492" "OMIM:243300" + "BTO:0002183" + "RRID:CVCL_7109" "SNOMEDCT:76567009" "NCIt:C35512" "MedDRA:10061225" @@ -67803,10 +67632,6 @@ "EMAPA:16640" "Wikipedia:Prosencephalon" "EHDAA:2643" - "UMLS:C2936859" - "ICD10:Q87.8" - "MeSH:C536108" - "OMIM:310465" "PMID:22177955" "PMID:22174792" "CAS:74772-77-3" @@ -67849,6 +67674,10 @@ "PMID:21354099" "SNOMEDCT:63369000" "FMA:84198" + "UMLS:C2936859" + "ICD10:Q87.8" + "MeSH:C536108" + "OMIM:310465" "OMIM:607584" "ICD10:G11.4" "PMID:35347128" @@ -67893,8 +67722,6 @@ "SCTID:715752006" "UMLS:C0752124" "icd11.foundation:1056119281" - "MeSH:D018177" - "DOID:993" "MONDO:0005346" "MeSH:D042882" "SCTID:235919008" @@ -67905,6 +67732,8 @@ "MESH:D042882" "RRID:CVCL_4103" "CLO:0001701" + "MeSH:D018177" + "DOID:993" "UMLS:C1836022" "Orphanet:268835" "OMIM:609537" @@ -67974,12 +67803,12 @@ "OMIM:150250" "UMLS:C2931648" "NCIt:C6846" - "DOID:4147" "MEDGEN:184920" "MONDO:0006180" "NCIT:C36207" "UMLS:C0948101" "EFO:1000217" + "DOID:4147" "MedDRA:10008171" "SNOMEDCT:68382005" "ICD9:388.61" @@ -68190,7 +68019,6 @@ "MedDRA:10008273" "MESH:D002581" "PMID:22330257" - "Beilstein:3077644" "DrugBank:DB01017" "Patent:WO2008104734" "Drug_Central:1813" @@ -68510,7 +68338,6 @@ "KEGG:C14777" "PMID:11726629" "PMID:11158968" - "Beilstein:2656104" "LIPID_MAPS_instance:LMFA03060007" "PMID:7593207" "PMID:2517876" @@ -68731,7 +68558,6 @@ "UMLS:C1831619" "Reaxys:2213851" "CAS:2901-75-9" - "Beilstein:2213851" "SNOMEDCT_US:253255002" "UMLS:C1858566" "UMLS:C0431483" @@ -68814,6 +68640,7 @@ "OMIM:610422" "OMIM:618840" "OMIM:203650" + "PMID:28240269" "PMID:23823483" "galen:Vagina" "MAT:0000128" @@ -68832,7 +68659,6 @@ "UMLS:C0042232" "Wikipedia:Vagina" "BTO:0000243" - "PMID:28240269" "OMIMPS:616355" "UMLS:C0435632" "SNOMEDCT_US:20511007" @@ -68868,7 +68694,6 @@ "KEGG:C00158" "Gmelin:4239" "Reaxys:1884707" - "Beilstein:1884707" "PDBeChem:FLC" "CALOHA:TS-2375" "BTO:0000705" @@ -68925,6 +68750,7 @@ "SNOMEDCT_US:66857006" "UMLS:C0019079" "SNOMEDCT_US:6686005" + "PMID:28240269" "NANDO:1201080" "NANDO:2100197" "MESH:D020151" @@ -68950,7 +68776,6 @@ "ICD9:277.89" "GARD:17401" "Orphanet:309031" - "PMID:28240269" "PMID:33634981" "icd11.foundation:1661142154" "SCTID:715633008" @@ -69086,11 +68911,11 @@ "MEDGEN:41339" "ICD9:237.0" "BTO:0001026" + "SNOMEDCT:41898006" "FMA:81100" "NCIt:C12521" "CALOHA:TS-0290" "BTO:0000424" - "SNOMEDCT:41898006" "PMID:28240269" "OMIM:300635" "MedDRA:10068348" @@ -69356,7 +69181,6 @@ "PMID:22359146" "PMID:15995937" "PMID:25504347" - "Beilstein:383619" "PMID:22699421" "PMID:15780941" "PMID:22232263" @@ -69478,10 +69302,10 @@ "UMLS:C0015300" "Orphanet:109009" "UMLS:C1840375" + "ICD10:Q56.1" "FBbt:00001102" "MAT:0000339" "BTO:0002328" - "ICD10:Q56.1" "PMID:2846049" "PMID:29402945" "PMID:7247372" @@ -69706,6 +69530,16 @@ "PMID:28240269" "PMID:28240269" "OMIM:213010" + "ICD9:571.6" + "NCIt:C51225" + "SNOMEDCT:1761006" + "MESH:C538058" + "NANDO:1200460" + "OMIM:202550" + "NCIT:C101074" + "NANDO:2200948" + "UMLS:C0345240" + "MEDGEN:83378" "icd11.foundation:597341977" "MEDGEN:39087" "MESH:D020269" @@ -69717,16 +69551,6 @@ "SCTID:7916009" "NCIT:C26926" "ICD9:357.5" - "ICD9:571.6" - "NCIt:C51225" - "SNOMEDCT:1761006" - "MESH:C538058" - "NANDO:1200460" - "OMIM:202550" - "NCIT:C101074" - "NANDO:2200948" - "UMLS:C0345240" - "MEDGEN:83378" "PMID:35050183" "KEGG:D00445" "Wikipedia:Stavudine" @@ -69918,12 +69742,12 @@ "MEDGEN:509851" "DOID:10120" "UMLS:C0155209" + "OMIM:103470" "UMLS:C1883694" "GARD:20945" "Orphanet:268139" "NCIT:C66806" "MEDGEN:408140" - "OMIM:103470" "SNOMEDCT:438668009" "MEDGEN:346616" "MESH:C565677" @@ -69958,9 +69782,9 @@ "EMAPA:32748" "EFO:0003088" "NCIt:C6290" + "RRID:CVCL_0E00" "TGEMO:00112" "MGI:2661783" - "RRID:CVCL_0E00" "NCIT:C5718" "DOID:7235" "UMLS:C1335309" @@ -69987,8 +69811,8 @@ "Beilstein:5305497" "SCTID:83264000" "MeSH:D011000" - "MONDO:0005751" "ICD10CM:B33.0" + "MONDO:0005751" "DOID:10882" "MedDRA:10014978" "MESH:D011000" @@ -70378,7 +70202,6 @@ "NCIt:C79653" "APweb:Glossary" "Reaxys:5735282" - "Beilstein:5735282" "OMIM:614171" "ICD10:E70.3" "LIPID_MAPS_instance:LMGP01020056" @@ -70721,12 +70544,6 @@ "MedGen:C1864399" "DI:00917" "MeSH:D018901" - "MedDRA:10071094" - "OMIM:120100" - "ICD10:L50.2" - "MedDRA:10064570" - "OMIM:616115" - "UMLS:C0343068" "MEDGEN:501111" "Orphanet:2297" "OMIM:610549" @@ -70735,6 +70552,12 @@ "icd11.foundation:343459534" "MESH:C562710" "UMLS:C0342278" + "MedDRA:10071094" + "OMIM:120100" + "ICD10:L50.2" + "MedDRA:10064570" + "OMIM:616115" + "UMLS:C0343068" "SCTID:31712002" "NANDO:1200439" "ICD9:571.6" @@ -70843,7 +70666,6 @@ "MetaCyc:CPD-11924" "CAS:19545-26-7" "PMID:34306363" - "Beilstein:67676" "PMID:25449276" "PMID:18703838" "PMID:11090628" @@ -71020,8 +70842,8 @@ "HMDB:HMDB0002825" "PMID:22770225" "PMID:22824731" - "Reaxys:16464" "PMID:9468592" + "Reaxys:16464" "Wikipedia:Theobromine" "KEGG:C07480" "PDBeChem:37T" @@ -71040,7 +70862,6 @@ "MetaCyc:3-7-DIMETHYLXANTHINE" "DrugBank:DB01412" "CAS:83-67-0" - "Beilstein:16464" "LINCS:LSM-5483" "PMID:19018565" "ICD10:Q99.8" @@ -71174,12 +70995,12 @@ "ONCOTREE:LUAS" "DOID:4829" "PMID:29875488" + "PMID:37253714" "UMLS:C2748896" "MEDGEN:412662" "NCIT:C128188" "DOID:0111778" "OMIM:400044" - "PMID:37253714" "ICDO:9424/3" "GARD:10631" "Orphanet:251607" @@ -71209,8 +71030,8 @@ "CALOHA:TS-2385" "UMLS:C0222613" "SCTID:361719004" - "MA:0000791" "NCIT:C32910" + "MA:0000791" "EMAPA:35538" "BTO:0002845" "Wikipedia:Lactiferous_duct" @@ -71636,7 +71457,6 @@ "PMID:11427352" "DrugBank:DB00163" "HMDB:HMDB0001893" - "Beilstein:94012" "Drug_Central:4280" "CAS:59-02-9" "FooDB:FDB000565" @@ -72051,6 +71871,7 @@ "UMLS:C3150657" "UMLS:C4024742" "ZFA:0001431" + "EHDAA2:0000116" "EMAPA:16109" "BTO:0000065" "MESH:D000650" @@ -72064,7 +71885,6 @@ "NCIT:C12365" "UMLS:C0002630" "FMA:80223" - "EHDAA2:0000116" "NCIt:C4262" "SNOMEDCT:9574000" "MEDGEN:1648480" @@ -72229,7 +72049,6 @@ "MeSH:D002710" "PMID:33786648" "PMID:33850179" - "Beilstein:2826432" "LINCS:LSM-5633" "Drug_Central:597" "PMID:11564456" @@ -72514,6 +72333,7 @@ "MONDO:0006481" "UMLS:C0600079" "DOID:4939" + "PMID:24816252" "SCTID:59763006" "UMLS:C0432272" "DOID:0080036" @@ -72523,7 +72343,6 @@ "GARD:2833" "OMIM:239100" "Orphanet:3416" - "PMID:24816252" "NCIT:C40276" "UMLS:C1512974" "MEDGEN:307683" @@ -72553,7 +72372,6 @@ "SNOMEDCT:356624006" "NCIt:C48154" "ICD10:E66.8" - "PMID:37164013" "Orphanet:98914" "SNOMEDCT_US:190882007" "UMLS:C0347959" @@ -72563,6 +72381,7 @@ "DOID:4062" "UMLS:C1336727" "NCIT:C6359" + "PMID:37164013" "UMLS:C0544452" "NCIt:C18246" "PMID:22770225" @@ -72645,7 +72464,6 @@ "PMID:15642793" "Reaxys:1727101" "CAS:60-33-3" - "Beilstein:1727101" "PMID:24081493" "HMDB:HMDB0000673" "SNOMEDCT:8822004" @@ -72801,8 +72619,8 @@ "SCTID:84048006" "OMIM:227300" "UMLS:C4551981" - "PMID:33634981" "PMID:35773277" + "PMID:33634981" "RRID:CVCL_EQ22" "BTO:0006394" "OMIM:240300" @@ -72924,6 +72742,9 @@ "Orphanet:662762" "MEDGEN:1824035" "UMLS:C5774262" + "UMLS:C1833692" + "OMIM:166760" + "MEDGEN:318936" "Orphanet:369955" "UMLS:C3553915" "GARD:12621" @@ -72947,9 +72768,6 @@ "UMLS:C5680502" "Orphanet:178469" "GARD:12107" - "UMLS:C1833692" - "OMIM:166760" - "MEDGEN:318936" "BTO:0001113" "MEDGEN:335161" "OMIM:300496" @@ -73197,9 +73015,9 @@ "MedDRA:10070635" "OMIM:300471" "ICD10:Q87.8" - "MedDRA:10007116" "OMIM:602629" "ICD10:G24.1" + "MedDRA:10007116" "PMID:9792839" "GARD:12662" "UMLS:C3839265" @@ -73212,11 +73030,6 @@ "ICD10:J90" "RRID:CVCL_M912" "PMID:7433105" - "UMLS:C0265235" - "OMIM:154780" - "MeSH:C536025" - "ICD10:Q87.0" - "NIFSTD:birnlex_577" "TGMA:0000005" "MAT:0000297" "BTO:0000420" @@ -73228,9 +73041,14 @@ "OMIM:619184" "MEDGEN:1782253" "DOID:0112358" + "UMLS:C0265235" + "OMIM:154780" + "MeSH:C536025" + "ICD10:Q87.0" "MEDGEN:1824055" "OMIM:620185" "UMLS:C5774282" + "NIFSTD:birnlex_577" "MedDRA:10071719" "NORD:1768" "ICD9:759.89" @@ -73451,14 +73269,14 @@ "MeSH:D039682" "DOID:810" "PMID:35697867" + "OMIM:619424" + "MEDGEN:1794147" + "UMLS:C5561937" "GARD:17883" "OMIM:617066" "MEDGEN:934703" "UMLS:C4310736" "Orphanet:486815" - "OMIM:619424" - "MEDGEN:1794147" - "UMLS:C5561937" "UMLS:C0239830" "PMID:37794183" "MEDGEN:5496" @@ -73479,7 +73297,6 @@ "PMID:14536034" "VSDB:212" "Wikipedia:Diazinon" - "Beilstein:273790" "Pesticides:diazinon" "Reaxys:273790" "CAS:333-41-5" @@ -73502,8 +73319,6 @@ "OMIM:306980" "MeSH:C538319" "ICD10:Q43.1" - "ICD10:G60.0" - "OMIM:607734" "DOID:136" "MONDO:0006488" "MEDGEN:275573" @@ -73516,6 +73331,8 @@ "UMLS:C0740372" "NCIT:C38162" "SCTID:449072004" + "ICD10:G60.0" + "OMIM:607734" "PMID:3017841" "BTO:0000773" "MESH:D008072" @@ -73932,13 +73749,13 @@ "TAO:0001053" "EFO:0003612" "PMID:33634981" - "UMLS:C1527388" - "MeSH:D000652" - "ICD10:Q79.8" "PMID:31043756" "DOID:14042" "MedDRA:10004939" "MedDRA:10068455" + "UMLS:C1527388" + "MeSH:D000652" + "ICD10:Q79.8" "UMLS:C1832342" "OMIM:609069" "GARD:16670" @@ -73960,9 +73777,9 @@ "MedDRA:10050245" "UMLS:C0242584" "GARD:18906" - "PMID:37794183" "OMIM:614756" "ICD10:G11.0" + "PMID:37794183" "EFO:1000484" "NCIT:C45662" "UMLS:C1709574" @@ -73998,7 +73815,6 @@ "PMID:18440992" "KEGG:D00011" "PMID:15331688" - "Beilstein:635782" "MetaCyc:GLY" "PMID:17582620" "PMID:15388434" @@ -74542,6 +74358,7 @@ "OMIM:613402" "GARD:10933" "MEDGEN:462017" + "Orphanet:98915" "MESH:D003536" "EFO:0006387" "DOID:3111" @@ -74550,7 +74367,6 @@ "UMLS:C0010631" "MONDO:0005596" "MEDGEN:41385" - "Orphanet:98915" "OMIM:615474" "UMLS:C3809609" "MEDGEN:815939" @@ -74597,18 +74413,18 @@ "MEDGEN:388032" "https://en.wikipedia.org/wiki/Schizoaffective_disorder" "PMID:31043756" + "PMID:23823483" "MeSH:C026219" "PMID:12323090" "PMID:12323085" "Wikipedia:Docosapentaenoic_acid" "PMID:17547694" "NCIt:C68347" - "PMID:23823483" + "PMID:37794183" "DOID:6903" "NCIT:C35690" "MEDGEN:1788822" "UMLS:C0730306" - "PMID:37794183" "ICD10:Q93.5" "SNOMEDCT:21327008" "UMLS:C4280642" @@ -74638,7 +74454,6 @@ "MEDGEN:1800957" "PMID:29875488" "Reaxys:5736650" - "Beilstein:5736650" "MetaCyc:2-HYDROXYGLUTARIC_ACID" "ZFA:0000184" "DOID:0080120" @@ -74759,7 +74574,6 @@ "KEGG:C00489" "DrugBank:DB03553" "PMID:24900967" - "Beilstein:1209725" "SNOMEDCT:21353000" "Orphanet:263435" "GARD:20902" @@ -74801,12 +74615,12 @@ "MEDGEN:400144" "PMID:33634981" "PMID:35347128" - "PMID:29875488" "NCIT:C114666" "SCTID:87696004" "UMLS:C0085692" "MEDGEN:508360" "DOID:0050859" + "PMID:29875488" "UMLS:C0006271" "SCTID:4120002" "NCIT:C39658" @@ -74929,7 +74743,6 @@ "PMID:12730100" "PMID:19423865" "PMID:12401202" - "Beilstein:5877213" "PMID:12062172" "PMID:19082500" "PMID:15734735" @@ -75037,16 +74850,16 @@ "SNOMEDCT:420303002" "SNOMEDCT:136113003" "NCIt:C20496" - "UMLS:C1836916" - "MeSH:C536343" - "ICD10:G11.1" - "OMIM:609033" "Orphanet:438114" "MEDGEN:863760" "GARD:17734" "OMIM:616140" "UMLS:C4015323" "DOID:0060791" + "UMLS:C1836916" + "MeSH:C536343" + "ICD10:G11.1" + "OMIM:609033" "SNOMEDCT:438391000" "PMID:22550155" "PMID:23241746" @@ -75214,6 +75027,8 @@ "SNOMEDCT:76067001" "MeSH:D012912" "OMIM:615139" + "NCIt:C114102" + "ICD10:O80" "SCTID:238074007" "NANDO:2201232" "NORD:1862" @@ -75232,8 +75047,6 @@ "NANDO:2200570" "MESH:C564736" "MedDRA:10053687" - "NCIt:C114102" - "ICD10:O80" "GARD:20950" "SCTID:203927003" "MEDGEN:608901" @@ -75267,6 +75080,16 @@ "GO:0005623\n" "KUPO:0000002" "UMLS:C0854107" + "RRID:CVCL_R864" + "OMIM:617393" + "UMLS:C4479333" + "Orphanet:500545" + "MEDGEN:1377894" + "GARD:17930" + "Orphanet:424975" + "MEDGEN:1668494" + "UMLS:C4749400" + "GARD:21789" "OMIM:602535" "ICD10:Q87.3" "MeSH:C536026" @@ -75283,17 +75106,6 @@ "MEDGEN:57993" "MedDRA:10020041" "MONDO:0006559" - "RRID:CVCL_R864" - "OMIM:617393" - "UMLS:C4479333" - "Orphanet:500545" - "MEDGEN:1377894" - "GARD:17930" - "Orphanet:424975" - "MEDGEN:1668494" - "UMLS:C4749400" - "GARD:21789" - "PMID:35347128" "JAX:004435" "NANDO:1200317" "OMIM:274150" @@ -75305,6 +75117,7 @@ "UMLS:C1268935" "MEDGEN:224783" "ICD9:287.33" + "PMID:35347128" "MESH:D001139" "NCIT:C84570" "MEDGEN:2065" @@ -75364,7 +75177,6 @@ "Wikipedia:Alanine" "NCIt:C29605" "MeSH:D000409" - "Beilstein:635807" "Reaxys:635807" "Drug_Central:4306" "PMID:17439666" @@ -75421,7 +75233,6 @@ "PMID:19427119" "PMID:28845964" "Wikipedia:Trinitrotoluene" - "Beilstein:1887900" "CAS:118-96-7" "PO:0006308" "ZEA:0015158" @@ -75562,9 +75373,9 @@ "DOID:13924" "ICD9:101" "NCIt:C34637" + "PMID:28240269" "MeSH:D015325" "DOID:3649" - "PMID:28240269" "NCIt:C19263" "ERO:0001242" "OMIM:611819" @@ -75646,7 +75457,6 @@ "DOID:683" "MESH:D009443" "PMID:28846088" - "Beilstein:91866" "PMID:14971904" "PMID:23861085" "PMID:12699389" @@ -75803,6 +75613,7 @@ "MEDGEN:1661450" "UMLS:C4749850" "Orphanet:238569" + "PMID:26068415" "NCIt:C15644" "DrugBank:DB01242" "KEGG DRUG:D00811" @@ -75817,7 +75628,6 @@ "ChEMBL:774661" "CAS:17321-77-6" "MedDRA:10015943" - "PMID:26068415" "PMID:28627999" "Orphanet:1716" "GARD:18742" @@ -76340,7 +76150,6 @@ "MONDO:0005528" "DOID:0050896" "PMID:168632" - "Beilstein:878248" "KEGG:C05984" "LIPID_MAPS_instance:LMFA01050004" "CAS:600-15-7" @@ -76546,23 +76355,12 @@ "MeSH:D004831" "OMIM:618074" "OMIM:618075" - "EFO:0006388" - "MONDO:0005597" - "PMID:3739121" "UMLS:CN207246" "Orphanet:98990" "Wikipedia:Carbonic_anhydrase_II" - "NCIT:C4375" - "MEDGEN:293643" - "UMLS:C1578917" - "OMIM:147630" - "SCTID:274944000" - "MESH:C563258" - "MEDGEN:313444" - "UMLS:C1709053" - "DOID:4065" - "ICDO:8902/3" - "NCIT:C4259" + "EFO:0006388" + "MONDO:0005597" + "PMID:3739121" "NCIt:C26849" "icd11.foundation:775356003" "ICD9:567.8" @@ -76580,6 +76378,17 @@ "ICD10:K65" "UMLS:C0031154" "MEDGEN:14697" + "NCIT:C4375" + "MEDGEN:293643" + "UMLS:C1578917" + "OMIM:147630" + "SCTID:274944000" + "MESH:C563258" + "MEDGEN:313444" + "UMLS:C1709053" + "DOID:4065" + "ICDO:8902/3" + "NCIT:C4259" "UMLS:C4021822" "MAT:0000152" "FBbt:00005177" @@ -76818,11 +76627,10 @@ "PMID:22770225" "Gmelin:3509" "MetaCyc:GLN" - "Beilstein:1723797" "KNApSAcK:C00001359" "PMID:22453904" - "Wikipedia:Glutamine" "PMID:22451274" + "Wikipedia:Glutamine" "PMID:22206385" "PMID:11139387" "PMID:15204730" @@ -77041,11 +76849,11 @@ "MEDGEN:108273" "icd11.foundation:535412248" "GARD:5663" - "OMIM:300858" "UMLS:C1332922" "MEDGEN:234116" "NCIT:C7346" "MESH:D065310" + "OMIM:300858" "SCTID:719840003" "OMIM:266910" "Orphanet:3404" @@ -77103,7 +76911,6 @@ "PMID:20931291" "PMID:21489598" "Reaxys:506006" - "Beilstein:506006" "PMID:20534638" "PMID:21699073" "PMID:21455425" @@ -77115,6 +76922,9 @@ "UMLS:C5676885" "OMIM:301081" "MEDGEN:1811268" + "UMLS:C1842531" + "OMIM:608105" + "MeSH:C535499" "NCIt:C94335" "MedDRA:10034158" "OMIM:606349" @@ -77122,16 +76932,13 @@ "ICD9:312.31" "MEDGEN:14632" "MONDO:0011662" + "UMLS:C0030662" "MeSH:D005715" "ICD10CM:F63.0" - "UMLS:C0030662" "MESH:D005715" "NCIT:C94335" "DOID:12399" "ICD9CM:312.31" - "UMLS:C1842531" - "OMIM:608105" - "MeSH:C535499" "ICD9:129" "MEDGEN:196662" "SNOMEDCT:56733003" @@ -77401,7 +77208,6 @@ "ICD10:Q87.0" "HMDB:HMDB0028955" "Reaxys:2377223" - "Beilstein:3904695" "Gmelin:240388" "Reaxys:3904695" "PMID:29875488" @@ -77474,13 +77280,13 @@ "SNOMEDCT_US:48522003" "PMID:35347128" "RRID:CVCL_Z705" + "PMID:29212900" "MeSH:D011164" "SNOMEDCT:29094004" "SNOMEDCT:371628009" "SNOMEDCT:190916001" "DOID:13268" "ICD9:277.1" - "PMID:29212900" "PMID:28240269" "UMLS:C2112129" "UMLS:C4020865" @@ -77651,7 +77457,6 @@ "PMID:24168114" "KEGG:C00546" "PMID:10723098" - "Beilstein:906750" "PMID:20096340" "PMID:24040205" "CAS:78-98-8" @@ -77710,6 +77515,8 @@ "MeSH:D043368" "SNOMEDCT:114054002" "PMID:37794183" + "UMLS:C0151740" + "SNOMEDCT_US:271719001" "UMLS:C0334552" "MEDGEN:87263" "EFO:1000347" @@ -77718,8 +77525,6 @@ "NANDO:2200052" "DOID:4719" "ICDO:9250/3" - "UMLS:C0151740" - "SNOMEDCT_US:271719001" "PMID:24816252" "UMLS:C1849087" "MEDGEN:341379" @@ -77753,9 +77558,9 @@ "UMLS:C2348239" "GARD:0009270" "MEDGEN:389657" - "PMID:29875488" "PO:0009062" "BTO:0001733" + "PMID:29875488" "MEDGEN:1842307" "GARD:19225" "icd11.foundation:831687561" @@ -77838,11 +77643,11 @@ "UMLS:C1868773" "MEDGEN:1806599" "DOID:0050850" - "PMID:33634981" "DOID:0070021" "MEDGEN:462794" "UMLS:C3151444" "Wikipedia:Hearing_(sense)" + "PMID:33634981" "UMLS:C2700007" "Orphanet:289661" "icd11.foundation:407807101" @@ -77921,6 +77726,8 @@ "icd11.foundation:1025219649" "PMID:29875488" "PMID:35347128" + "SNOMEDCT:116424004" + "MeSH:D034301" "neuronames:2347" "Wikipedia:Leptomeninges" "SCTID:362303006" @@ -77930,8 +77737,6 @@ "NCIT:C32979" "NLXANAT:090207" "BTO:0001634" - "SNOMEDCT:116424004" - "MeSH:D034301" "MEDGEN:274492" "DOID:4008" "NCIT:C40104" @@ -78158,7 +77963,6 @@ "OMIM:613217" "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03064&Product=CC" "Reaxys:1744991" - "Beilstein:1744991" "PMID:24755254" "PMID:24696076" "KEGG:C14422" @@ -78227,7 +78031,6 @@ "NCIt:C46099" "PMID:17190852" "CAS:443-79-8" - "Beilstein:1721790" "Reaxys:1721790" "ICD9:332" "OMIM:616361" @@ -78256,10 +78059,6 @@ "OMIM:612968" "MEDGEN:442822" "MESH:C567835" - "ICD10:E34.8" - "UMLS:C0265344" - "OMIM:246200" - "MedDRA:10081903" "UMLS:C1844606" "OMIM:300431" "ICD10:Q87.8" @@ -78274,6 +78073,10 @@ "UMLS:C4225417" "OMIM:300967" "Orphanet:466791" + "ICD10:E34.8" + "UMLS:C0265344" + "OMIM:246200" + "MedDRA:10081903" "MONDO:0004957" "EFO:0000197" "UMLS:C0007130" @@ -78439,13 +78242,13 @@ "OMIM:185700" "MEDGEN:350018" "HP:0100263" + "PMID:36168886" + "PMID:28240269" "UMLS:C1709578" "NCIT:C45663" "MONDO:0006380" "MEDGEN:354059" "EFO:1000486" - "PMID:36168886" - "PMID:28240269" "DOID:0111797" "UMLS:C3151571" "OMIM:257400" @@ -78479,7 +78282,6 @@ "PMID:25315260" "HMDB:HMDB0001915" "Wikipedia:Alendronic_acid" - "Beilstein:2275403" "SNOMEDCT:421552005" "NCIt:C61625" "PMID:16626694" @@ -78764,7 +78566,6 @@ "Wikipedia:Acetaldehyde" "PMID:6036728" "KNApSAcK:C00007392" - "Beilstein:505984" "CAS:75-07-0" "MEDGEN:102281" "MESH:D014516" @@ -78886,14 +78687,14 @@ "MEDGEN:1841161" "UMLS:C5830525" "OMIM:620376" + "Wikipedia:Antimetabolite" + "MeSH:D000963" + "NCIt:C85546" "MedDRA:10069402" "OMIM:314600" "ICD10:Q87.8" "MeSH:C536706" "UMLS:C0265239" - "Wikipedia:Antimetabolite" - "MeSH:D000963" - "NCIt:C85546" "PMID:29875488" "MEDGEN:154726" "UMLS:C0600518" @@ -79021,7 +78822,6 @@ "OMIM:231060" "MESH:C537683" "GARD:2460" - "PMID:29875488" "OMIM:601076" "UMLS:C4305568" "GARD:5513" @@ -79030,6 +78830,7 @@ "DOID:0112179" "icd11.foundation:1521808255" "SCTID:717705004" + "PMID:29875488" "KEGG COMPOUND:C01262" "HMDB:0000194" "UMLS:C0432130" @@ -79262,6 +79063,8 @@ "RHEA:19181" "EC:1.3.8.9" "MetaCyc:RXN-13451" + "OMIM:615073" + "ICD10:G24.1" "NCIT:C36410" "Orphanet:316244" "UMLS:C0795844" @@ -79275,8 +79078,6 @@ "OMIM:256120" "MeSH:C536401" "ICD10:Q87.8" - "OMIM:615073" - "ICD10:G24.1" "ICD9:621.31" "SCTID:198324001" "NCIT:C35463" @@ -79437,6 +79238,7 @@ "MEDGEN:272726" "UMLS:C1334057" "NCIT:C27683" + "PMID:35347128" "SNOMEDCT:139299007" "UMLS:C0013395" "ICD10:R12" @@ -79458,7 +79260,6 @@ "SNOMEDCT:249510006" "NCIt:C26756" "PMID:33846129" - "Beilstein:4645978" "Drug_Central:197" "KEGG:D00203" "Wikipedia:Amphotericin_B" @@ -79478,7 +79279,6 @@ "DrugBank:DB00681" "PMID:16793999" "PMID:16120633" - "PMID:35347128" "PMID:35668104" "SNOMEDCT:81568008" "NCIt:C28447" @@ -79909,6 +79709,7 @@ "NCIT:C37312" "MEDGEN:419905" "PMID:24816252" + "PMID:29875488" "SCTID:719136005" "GARD:9947" "Orphanet:137831" @@ -79917,18 +79718,17 @@ "UMLS:C1845366" "DOID:0080311" "MESH:C537456" - "PMID:29875488" + "OMIM:618608" + "PMID:29535761" "MEDGEN:569650" "UMLS:C0334346" "ICDO:8401/3" "NCIT:C4169" "DOID:4933" - "OMIM:618608" "UMLS:C1514430" "DOID:4011" "NCIT:C39898" "MEDGEN:271382" - "PMID:29535761" "BTO:0001072" "NCIt:C12806" "PMID:35668104" @@ -79993,7 +79793,6 @@ "SNOMEDCT:442680008" "KEGG_REACTION:R00533" "MetaCyc:SULFITE-OXIDASE-RXN" - "MetaCyc:PWY-5326" "RHEA:24600" "EC:1.8.3.1" "Reactome:R-HSA-1614544" @@ -80079,8 +79878,6 @@ "ICD9:100.9" "OMIM:618571" "UMLS:C1843274" - "OMIM:614831" - "ICD10:G11.1" "PMCID:PMC9193570" "PMID:19804861" "PMID:25108762" @@ -80117,6 +79914,8 @@ "HMDB:HMDB0002994" "PMID:17336832" "PMID:35289142" + "OMIM:614831" + "ICD10:G11.1" "DOID:0050936" "UMLS:C1257877" "NCIT:C48576" @@ -80356,7 +80155,6 @@ "Orphanet:206973" "Reaxys:4128534" "UM-BBD_compID:c0069" - "Beilstein:4128534" "CAS:141-81-1" "NCIt:C70618" "KEGG:C00164" @@ -80558,12 +80356,12 @@ "MESH:C536801" "GARD:10130" "UMLS:C1853490" - "ICD10:E70.8" "UMLS:C4225270" "MEDGEN:896409" "OMIM:616592" "Orphanet:477831" "GARD:17860" + "ICD10:E70.8" "MeSH:D009345" "SNOMEDCT:17872004" "NCIt:C86605" @@ -80900,6 +80698,12 @@ "FBbt:00000136" "MAT:0000243" "MIAA:0000243" + "DOID:11264" + "MESH:D002690" + "MeSH:D023521" + "ICD10CM:A70-A74" + "MONDO:0021697" + "MESH:D023521" "NANDO:1200891" "OMIMPS:227650" "NORD:1132" @@ -80915,12 +80719,6 @@ "NANDO:1200303" "MESH:D005199" "MEDGEN:41967" - "DOID:11264" - "MESH:D002690" - "MeSH:D023521" - "ICD10CM:A70-A74" - "MONDO:0021697" - "MESH:D023521" "MEDGEN:1826150" "Orphanet:79171" "UMLS:C5681844" @@ -81031,18 +80829,6 @@ "NCIT:C118750" "MEDGEN:509774" "ICD9:370.24" - "icd11.foundation:535283437" - "NCIt:C3285" - "SCTID:4210003" - "MESH:D009798" - "MedDRA:10030043" - "DOID:9282" - "MONDO:0006875" - "UMLS:C0028840" - "SNOMEDCT:4210003" - "ICD9:365.04" - "MEDGEN:10423" - "MeSH:D009798" "PMID:29875488" "CLO:0009617" "RRID:CVCL_0580" @@ -81058,6 +80844,18 @@ "MEDGEN:1712714" "GARD:18523" "UMLS:C5394477" + "icd11.foundation:535283437" + "NCIt:C3285" + "SCTID:4210003" + "MESH:D009798" + "MedDRA:10030043" + "DOID:9282" + "MONDO:0006875" + "UMLS:C0028840" + "SNOMEDCT:4210003" + "ICD9:365.04" + "MEDGEN:10423" + "MeSH:D009798" "Orphanet:263793" "EFO:0002554" "VHOG:0000421" @@ -81215,7 +81013,6 @@ "GAID:216" "CALOHA:TS-2380" "Reaxys:1765273" - "Beilstein:1765273" "KEGG:C01181" "PDBeChem:NM2" "HMDB:HMDB0001161" @@ -81281,7 +81078,6 @@ "FMA:77614" "Wikipedia:Orotic_acid" "Drug_Central:3402" - "Beilstein:383901" "HMDB:HMDB0000226" "KEGG:D00055" "KNApSAcK:C00019689" @@ -81554,7 +81350,6 @@ "SNOMEDCT_US:56558005" "UMLS:C0020678" "SNOMEDCT_US:53602002" - "Beilstein:103773" "Gmelin:1041679" "Reaxys:103773" "CAS:288-14-2" @@ -81751,6 +81546,7 @@ "Reactome:R-HSA-9686731" "Reactome:R-HSA-9668365" "Reactome:R-HSA-173680" + "Reactome:R-HSA-9839367" "Reactome:R-HSA-976743" "Reactome:R-HSA-1566981" "Reactome:R-HSA-166753" @@ -82037,8 +81833,8 @@ "GAID:376" "CALOHA:TS-0134" "MA:0000392" - "NCIT:C12311" "UMLS:C0007874" + "NCIT:C12311" "MeSH:D005865" "OMIM:608363" "ICD10:Q92.3" @@ -82090,7 +81886,6 @@ "HMDB:HMDB0000491" "Reaxys:3904281" "KEGG:C03465" - "Beilstein:3904281" "MeSH:D018551" "NCIt:C72019" "SNOMEDCT:55242003" @@ -82098,6 +81893,8 @@ "MEDGEN:508043" "SCTID:238525001" "UMLS:C0031736" + "OMIM:164310" + "ICD10:G71.0" "SNOMEDCT:75777003" "NCIt:C20464" "GARD:4582" @@ -82110,8 +81907,6 @@ "SCTID:707442002" "MESH:C535832" "OMIMPS:265120" - "OMIM:164310" - "ICD10:G71.0" "MONDO:0005554" "UMLS:C0009326" "MESH:D012216" @@ -82147,8 +81942,8 @@ "TAO:0001212" "ZFA:0001212" "PMID:35697867" - "PMID:29535761" "OMIM:618622" + "PMID:29535761" "NCIT:C176263" "PMID:35995766" "OMIM:619665" @@ -82159,12 +81954,12 @@ "MedDRA:10028953" "ICD10:P59" "DOID:2383" - "OMIM:300614" - "ICD10:G60.8" "MeSH:C536053" "ICD10:Q78.8" "OMIM:300373" "UMLS:C0432268" + "OMIM:300614" + "ICD10:G60.8" "NCIt:C74734" "UMLS:C0009806" "ICD9:564.0" @@ -82283,10 +82078,10 @@ "ICD10CM:I49.5" "DOID:13884" "MEDGEN:20749" + "OMIM:143465" "MeSH:D016977" "NCIt:C86101" "SNOMEDCT:116382001" - "OMIM:143465" "DOID:6839" "UMLS:C1334631" "MEDGEN:277343" @@ -82343,14 +82138,14 @@ "GARD:1053" "Orphanet:220402" "OMIM:618572" - "ICD-10:Q21.1" - "SNOMEDCT_US:204317008" - "UMLS:C0016522" - "Fyler:2020" "SNOMEDCT:90260006" "Wikipedia:Allergen" "SNOMEDCT:277054007" "NCIt:C62651" + "ICD-10:Q21.1" + "SNOMEDCT_US:204317008" + "UMLS:C0016522" + "Fyler:2020" "Orphanet:98633" "SCTID:251730004" "GARD:21318" @@ -82418,7 +82213,6 @@ "GARD:5177" "MEDGEN:347120" "MESH:C565867" - "OMIM:615688" "GAID:617" "neuronames:2677" "UMLS:C0004781" @@ -82435,8 +82229,8 @@ "BM:Tel-BG" "PBA:4001" "NCIT:C12447" + "OMIM:615688" "PMID:37794183" - "ICD10:Q10.3" "NCIt:C12594" "BTO:0001780" "FMA:62901" @@ -82454,6 +82248,7 @@ "Orphanet:99978" "MONDO:0003345" "UMLS:C0206702" + "ICD10:Q10.3" "GARD:20804" "UMLS:C5679663" "Orphanet:261841" @@ -82481,7 +82276,6 @@ "BTO:0000991" "NCIT:C82423" "DOID:0081080" - "LINCS:LSM-18990" "NCIt:C26311" "HMDB:HMDB0041830" "MetaCyc:ATRAZINE" @@ -82497,8 +82291,8 @@ "PMID:24239819" "KEGG:C06551" "CAS:1912-24-9" - "Beilstein:612020" "Wikipedia:Atrazine" + "LINCS:LSM-18990" "UMLS:C0003076" "SNOMEDCT_US:69278003" "UMLS:C1833797" @@ -82744,7 +82538,6 @@ "NCIt:C43394" "RRID:CVCL_4052" "BTO:0005060" - "Beilstein:4137829" "Reaxys:4137829" "HMDB:HMDB0000824" "PMID:22770225" @@ -82858,8 +82651,8 @@ "MeSH:D025242" "MeSH:D055009" "SNOMEDCT:372109003" - "PMID:28240269" "PMID:34814699" + "PMID:28240269" "MEDGEN:124373" "NCIT:C116593" "NANDO:1200594" @@ -82921,8 +82714,8 @@ "NCIT:C7966" "MEDGEN:76007" "PMID:35347128" - "galen:Esophagus" "TAO:0000204" + "galen:Esophagus" "MIAA:0000048" "AAO:0000145" "MESH:D004947" @@ -83070,12 +82863,12 @@ "Orphanet:53693" "GARD:1" "SCTID:703388005" - "PMID:35347128" "UMLS:C5680893" "icd11.foundation:801729371" "MEDGEN:1843186" "GARD:20560" "Orphanet:226292" + "PMID:35347128" "EHDAA:8279" "Wikipedia:Biceps_brachii_muscle" "UMLS:C0559499" @@ -83251,8 +83044,8 @@ "UMLS:C0007785" "SCTID:432504007" "MEDGEN:3321" - "ICD9:434.91" "ICD9:433.21" + "ICD9:434.91" "NCIT:C50486" "CLO:0009251" "RRID:CVCL_0553" @@ -83475,6 +83268,8 @@ "Wikipedia:Animal" "Orphanet:156168" "PMID:24816252" + "PubChem:7311" + "CAS:96-76-4" "GARD:4977" "MEDGEN:376504" "icd11.foundation:637954533" @@ -83482,14 +83277,11 @@ "UMLS:C1849048" "OMIM:271630" "MESH:C535787" - "PubChem:7311" - "CAS:96-76-4" "DrugBank:DB02085" "Pesticides:acc" "KNApSAcK:C00007566" "Reaxys:2076413" "MeSH:C023863" - "Beilstein:2076413" "PDBeChem:1AC" "Gmelin:362607" "CAS:22059-21-8" @@ -83577,8 +83369,8 @@ "RRID:CVCL_C528" "BTO:0006010" "PMID:28240269" - "OMIM:154000" "PMID:28240269" + "OMIM:154000" "UMLS:C0028850" "MONDO:0001584" "SCTID:45030009" @@ -83642,10 +83434,10 @@ "OMIM:311300" "OMIM:304120" "ICD10:Q87.0" - "PMID:30475886" "NCIT:C7091" "UMLS:C1333798" "MEDGEN:234305" + "PMID:30475886" "PMID:29875488" "PMID:36168886" "PMID:28011148" @@ -83719,7 +83511,6 @@ "PMID:12595714" "PMID:23280040" "PMID:29764985" - "Beilstein:616241" "NCIt:C72219" "MetaCyc:CPD-4210" "PMID:28737742" @@ -84173,8 +83964,8 @@ "PMID:35995766" "DOID:0050855" "SNOMEDCT:197660000" - "MONDO:0000494" "HP:0030760" + "MONDO:0000494" "SCTID:197660000" "MEDGEN:508798" "MP:0003985" @@ -84199,7 +83990,6 @@ "MESH:D002833" "MedDRA:10036370" "GARD:4457" - "Beilstein:1732469" "Wikipedia:Trichlorofluoromethane" "PMID:5727092" "CAS:75-69-4" @@ -84207,20 +83997,19 @@ "PMID:24189105" "PMID:1114326" "PMID:8006631" - "Gmelin:2208" + "PMID:15587083" "KNApSAcK:C00001198" - "Reaxys:385686" - "CAS:144-62-7" - "MetaCyc:OXALATE" + "LIPID_MAPS_instance:LMFA01170031" "HMDB:HMDB0002329" - "Wikipedia:Oxalic_acid" + "PMID:22735334" + "KEGG:C00209" "PDBeChem:OXD" + "MetaCyc:OXALATE" + "CAS:144-62-7" + "Wikipedia:Oxalic_acid" + "Gmelin:2208" "DrugBank:DB03902" - "LIPID_MAPS_instance:LMFA01170031" - "KEGG:C00209" - "Beilstein:385686" - "PMID:15587083" - "PMID:22735334" + "Reaxys:385686" "Wikipedia:Dibutyl_phthalate" "PMID:28753974" "PMID:26730679" @@ -84232,7 +84021,6 @@ "PMID:24213843" "PMID:19840837" "PMID:28363850" - "Beilstein:1914064" "PMID:28822891" "PMID:27655612" "PMID:28566680" @@ -84328,7 +84116,6 @@ "HMDB:HMDB0001999" "Drug_Central:3174" "DrugBank:DB00159" - "Beilstein:1714433" "PMID:24238887" "PMID:9668087" "PMID:19054597" @@ -84410,7 +84197,6 @@ "CALOHA:TS-0013" "BTO:0001487" "galen:FattyTissue" - "Beilstein:157731" "Reaxys:157731" "KEGG:C00799" "LIPID_MAPS_instance:LMPK12050000" @@ -84648,7 +84434,6 @@ "CiteXplore:12084414" "PMID:19810911" "KEGG:D07727" - "Beilstein:1323477" "Reaxys:1323477" "SNOMEDCT:372903001" "PMID:17471183" @@ -84684,13 +84469,13 @@ "MeSH:C535961" "UMLS:C0079299" "PMID:35347128" - "PMID:35347128" "MEDGEN:98371" "MESH:D020370" "MONDO:0005416" "ICD10:M17" "UMLS:C0409959" "MeSH:D020370" + "PMID:35347128" "PMID:25262759" "PMID:21177962" "PMID:32675219" @@ -84741,7 +84526,6 @@ "Wikipedia:Azoxystrobin" "PMID:24700092" "PMID:25196149" - "Beilstein:8350244" "PDBeChem:AZO" "PPDB:54" "CAS:131860-33-8" @@ -84756,7 +84540,6 @@ "Reaxys:8350244" "Patent:EP382375" "NCIt:C68643" - "Beilstein:3595485" "PMID:34006325" "PMID:17628757" "PMID:33983968" @@ -84788,10 +84571,10 @@ "UMLS:C2931452" "OMIM:235740" "ICD10:Q43.1" - "SNOMEDCT:409969007" - "ZFA:0009188" "PMID:24816252" "PMID:31413141" + "SNOMEDCT:409969007" + "ZFA:0009188" "Orphanet:435934" "OMIM:617395" "MEDGEN:1390458" @@ -84837,6 +84620,10 @@ "MEDGEN:224912" "GARD:21152" "MESH:D000077777" + "MEDGEN:1680976" + "UMLS:C5190578" + "GARD:21701" + "Orphanet:401840" "HP:0000070" "MedDRA:10056433" "UMLS:C0041960" @@ -84852,10 +84639,6 @@ "SNOMEDCT:12818004" "NCIT:C123159" "MeSH:D014518" - "MEDGEN:1680976" - "UMLS:C5190578" - "GARD:21701" - "Orphanet:401840" "NCIT:C61230" "SCTID:191256002" "MESH:C538494" @@ -84948,12 +84731,6 @@ "MEDGEN:539624" "UMLS:C0265991" "Orphanet:79363" - "GARD:21389" - "Orphanet:314753" - "MEDGEN:163135" - "NCIT:C8388" - "UMLS:C0854486" - "DOID:5395" "UMLS:C0349543" "NCIT:C4642" "MEDGEN:138100" @@ -84961,6 +84738,12 @@ "EFO:0006545" "SCTID:276828006" "MONDO:0002501" + "GARD:21389" + "Orphanet:314753" + "MEDGEN:163135" + "NCIT:C8388" + "UMLS:C0854486" + "DOID:5395" "MEDGEN:849741" "NCIT:C2983" "MESH:D003872" @@ -85191,7 +84974,6 @@ "Wikipedia:1-Butene" "Gmelin:25205" "PMID:24819240" - "Beilstein:1098262" "PMID:29875488" "UMLS:C0856975" "UMLS:C1510586" @@ -85276,7 +85058,6 @@ "CLO:0009164" "Drug_Central:3464" "Wikipedia:Phosphocreatine" - "Beilstein:1797096" "PMID:14421251" "PMID:1160340" "PMID:11867929" @@ -85405,16 +85186,15 @@ "SNOMEDCT:113821008" "NCIt:C86495" "CALOHA:TS-0190" + "ICD10:Q87.8" "MEDGEN:60203" "MESH:D018231" "NCIT:C3748" "UMLS:C0206654" "ICDO:8890/1" "DOID:5138" - "ICD10:Q87.8" "PMID:29875488" "PMID:35501403" - "PMID:37794183" "FMA:62967" "MIAA:0000057" "MAT:0000057" @@ -85422,6 +85202,7 @@ "EMAPA:36543" "BTO:0001232" "CALOHA:TS-0918" + "PMID:37794183" "SNOMEDCT_US:248062006" "UMLS:C0085271" "UMLS:C3808022" @@ -85835,13 +85616,13 @@ "NCIT:C4978" "OMIM:114500" "PMID:37794183" - "Orphanet:398063" "UMLS:C4749333" "MONDO:0018353" "ICD10CM:K90.0" "GARD:21640" "NORD:1653" "MEDGEN:1670595" + "Orphanet:398063" "ICD10:G23.0" "OMIM:606693" "UMLS:C1847640" @@ -86086,12 +85867,12 @@ "MESH:D005158" "DOID:13934" "SCTID:280816001" - "PMID:35995766" "PMID:15896368" "KEGG:C15801" "KNApSAcK:C00007278" "PMID:17138693" "Beilstein:7382071" + "PMID:35995766" "MEDGEN:930808" "UMLS:C4305139" "GARD:19063" @@ -86339,7 +86120,6 @@ "PMID:12683801" "PMID:22770225" "MetaCyc:TRIMENTHLAMINE-N-O" - "Beilstein:1734787" "Wikipedia:Trimethylamine_oxide" "MESH:C537459" "MEDGEN:301243" @@ -86351,9 +86131,6 @@ "DOID:0050637" "Orphanet:85448" "OMIM:105120" - "OMIM:619609" - "UMLS:C5562020" - "MEDGEN:1794230" "NCIt:C40157" "ICD9:621.34" "UMLS:C1516855" @@ -86361,6 +86138,9 @@ "MONDO:0006193" "NCIT:C40157" "SCTID:134031000119108" + "OMIM:619609" + "UMLS:C5562020" + "MEDGEN:1794230" "SCTID:23414001" "MEDGEN:82859" "NCIT:C27062" @@ -86423,18 +86203,18 @@ "MedDRA:10046950" "DOID:2170" "MeSH:D014627" + "PMID:29875488" "MeSH:D048230" "SNOMEDCT:89651003" - "PMID:29875488" "UMLS:C4073168" "PMID:29230059" - "ICD10:H35.0" - "OMIM:617341" - "OMIM:612199" "DOID:3001" "MONDO:0002480" "UMLS:C0474809" "OMIM:618635" + "ICD10:H35.0" + "OMIM:617341" + "OMIM:612199" "Orphanet:262794" "icd11.foundation:325064766" "MEDGEN:208643" @@ -86710,11 +86490,11 @@ "Orphanet:178557" "PMID:35347128" "PMID:29875488" - "OMIM:608154" - "ICD10:Q78.8" "UMLS:C0153474" "NCIT:C7487" "MEDGEN:56305" + "OMIM:608154" + "ICD10:Q78.8" "MEDGEN:347545" "UMLS:C1857780" "OMIM:610188" @@ -86996,7 +86776,6 @@ "KEGG:C00158" "PMID:19288211" "PMID:17604395" - "Beilstein:782061" "Gmelin:4240" "PMID:22115968" "PDBeChem:CIT" @@ -87223,9 +87002,9 @@ "UMLS:C5774255" "OMIM:620125" "PMID:34814699" - "PMID:35501403" "GARD:4859" "Orphanet:1940" + "PMID:35501403" "MEDDRA:10001926" "SNOMEDCT_US:62588002" "UMLS:C0002447" @@ -87275,7 +87054,6 @@ "PMID:17347819" "CAS:67-64-1" "LIPID_MAPS_instance:LMFA12000057" - "Beilstein:635680" "KEGG:C00207" "MetaCyc:ACETONE" "HMDB:HMDB0001659" @@ -87327,7 +87105,6 @@ "Wikipedia:Leucine" "LIPID_MAPS_instance:LMFA01100048" "Reaxys:636005" - "Beilstein:636005" "Gmelin:50203" "DOID:0111687" "MEDGEN:318657" @@ -87523,11 +87300,11 @@ "ICD10:S27" "PMID:29875488" "PMID:24816252" - "PMID:28240269" "GARD:20110" "UMLS:C5191057" "MEDGEN:1676191" "Orphanet:168999" + "PMID:28240269" "GARD:15844" "OMIM:614819" "MEDGEN:766699" @@ -87709,7 +87486,6 @@ "PMID:25521617" "Reaxys:2049713" "PMID:24168233" - "Beilstein:2049713" "Patent:US5215755" "DrugBank:DB01050" "PMID:18335846" @@ -87763,7 +87539,6 @@ "MEDGEN:41445" "ICD9:293.0" "UMLS:C0011206" - "PMID:29875488" "PMID:32641083" "GARD:17349" "SCTID:722439009" @@ -87775,6 +87550,7 @@ "BTO:0001363" "MA:0002765" "SAEL:93" + "PMID:29875488" "NANDO:2200605" "Orphanet:425" "RRID:CVCL_6263" @@ -87947,20 +87723,19 @@ "ICD9:757.39" "UMLS:C1274759" "MEDGEN:698082" - "Reaxys:1308415" - "KEGG:D01558" "PMID:24690897" - "CAS:86-87-3" - "Beilstein:1308415" "Gmelin:2062516" - "PMID:24272685" - "PPDB:1330" - "KEGG:C13014" "PDBeChem:NLA" - "DrugBank:DB01750" - "Wikipedia:1-Naphthaleneacetic_acid" + "KEGG:C13014" + "KEGG:D01558" "BPDB:1330" + "Wikipedia:1-Naphthaleneacetic_acid" + "PPDB:1330" + "PMID:24272685" + "CAS:86-87-3" + "Reaxys:1308415" "MeSH:C034182" + "DrugBank:DB01750" "SCTID:22611009" "NCIT:C26763" "DOID:11424" @@ -88297,6 +88072,15 @@ "NCIT:C9382" "UMLS:C0007113" "MEDGEN:40100" + "Orphanet:487825" + "MEDGEN:356049" + "MESH:C566559" + "OMIM:602342" + "DOID:0081362" + "UMLS:C1865644" + "GARD:17885" + "NCIt:C61017" + "SNOMEDCT:34608000" "UMLS:C0751583" "Orphanet:83476" "GARD:9959" @@ -88308,15 +88092,6 @@ "MONDO:0019376" "MeSH:D014901" "MESH:D014901" - "Orphanet:487825" - "MEDGEN:356049" - "MESH:C566559" - "OMIM:602342" - "DOID:0081362" - "UMLS:C1865644" - "GARD:17885" - "NCIt:C61017" - "SNOMEDCT:34608000" "DOID:0060106" "UMLS:C0349604" "DOID:0080842" @@ -88338,7 +88113,6 @@ "Wikipedia:2-Nitrofluorene" "LINCS:LSM-37230" "CAS:607-57-8" - "Beilstein:1877983" "KEGG:C10923" "PMID:23128813" "Gmelin:377245" @@ -88458,6 +88232,9 @@ "UMLS:C5676898" "OMIM:619702" "OMIM:612394" + "MEDGEN:934646" + "OMIM:617180" + "UMLS:C4310679" "MONDO:0019316" "MEDGEN:22588" "ICDO:9740/1" @@ -88473,9 +88250,6 @@ "OMIM:154800" "Orphanet:79457" "NCIT:C3433" - "MEDGEN:934646" - "OMIM:617180" - "UMLS:C4310679" "RRID:CVCL_T012" "PMID: 8394948" "MONDO:0006474" @@ -88703,11 +88477,6 @@ "Medgen:CN239376" "PMID:36210801" "PMID:33634981" - "MEDGEN:82675" - "UMLS:C0264248" - "NCIT:C3932" - "SCTID:23966000" - "ICD9:471.8" "MEDGEN:763877" "OMIM:300888" "Orphanet:329235" @@ -88715,13 +88484,18 @@ "UMLS:C3550963" "NCIT:C130989" "DOID:0111140" + "MEDGEN:82675" + "UMLS:C0264248" + "NCIT:C3932" + "SCTID:23966000" + "ICD9:471.8" "NCIt:C14222" "SNOMEDCT:35354009" "TAO:0001410" "BTO:0004687" "ZFA:0001410" - "galen:Orbit" "FMA:53074" + "galen:Orbit" "Wikipedia:Orbit_(anatomy)" "MESH:D009915" "NCIT:C12347" @@ -88733,8 +88507,6 @@ "CiteXplore:11872840 \"PubMed citation\"" "PMID:11872840" "PMID:37794183" - "Orphanet:271841" - "UMLS:CN202528" "MedDRA:10010652" "MESH:D014125" "GARD:18708" @@ -88774,6 +88546,8 @@ "OMIMPS:254780" "SCTID:230425004" "UMLS:C0751783" + "Orphanet:271841" + "UMLS:CN202528" "UMLS:C0151740" "MeSH:D019586" "NCIt:C84791" @@ -88792,10 +88566,10 @@ "MEDGEN:1639138" "UMLS:C4706257" "SCTID:763061004" - "PMID:29875488" - "PMID:35347128" "ZFA:0001359" "TAO:0001359" + "PMID:29875488" + "PMID:35347128" "NCIT:C116006" "MESH:D014069" "ICD10CM:J35.01" @@ -88827,7 +88601,6 @@ "NCIT:C4775" "MEDGEN:96924" "EFO:1000907" - "ICD10:Q87.8" "MESH:C536056" "GARD:4151" "UMLS:C1843330" @@ -88835,14 +88608,15 @@ "DOID:0110937" "Orphanet:2783" "MEDGEN:335932" - "MeSH:C536017" - "UMLS:C0220685" - "OMIM:200610" - "ICD10:Q77.0" + "ICD10:Q87.8" "UMLS:C0861861" "DOID:5537" "NCIT:C5777" "MEDGEN:209017" + "MeSH:C536017" + "UMLS:C0220685" + "OMIM:200610" + "ICD10:Q77.0" "PMID:25934476" "MO:676" "MEDGEN:411554" @@ -89049,7 +88823,6 @@ "Gmelin:190200" "CAS:57-10-3" "PMID:1589452" - "Beilstein:607489" "PMID:22735334" "PMID:16884313" "HMDB:HMDB0000220" @@ -89375,7 +89148,6 @@ "GARD:18784" "MEDGEN:904039" "PMID:29875488" - "PMID:36168886" "HP:0100817" "NCIt:C85044" "DOID:1591" @@ -89390,6 +89162,7 @@ "NANDO:2100016" "MONDO:0006947" "ICD9:405.91" + "PMID:36168886" "SCTID:726724005" "MEDGEN:401073" "UMLS:C1866745" @@ -89497,13 +89270,13 @@ "ICD10:Q87.1" "OMIM:210900" "MeSH:D001816" + "RRID:CVCL_C0HZ" + "PMID: 19881539" "ICD9:745.2" "MeSH:D013771" "DOID:6419" "NCIt:C84505" "SNOMEDCT:86299006" - "RRID:CVCL_C0HZ" - "PMID: 19881539" "Orphanet:561" "MESH:C536026" "SCTID:73284007" @@ -89591,7 +89364,6 @@ "Patent:US4315944" "PMID:23868375" "DrugBank:DB02648" - "Beilstein:1866665" "Patent:US4255449" "MetaCyc:DL-CARNITINE" "KEGG:C00487" @@ -89825,8 +89597,8 @@ "NCIt:C86746" "ICD9:004.1" "PMID:24816252" - "NCIt:C14138" "PMID:24435020" + "NCIt:C14138" "Orphanet:261483" "OMIM:300869" "GARD:17247" @@ -90204,13 +89976,13 @@ "SNOMEDCT_US:88776002" "UMLS:C0015499" "PMID:29875488" + "PMID:35347128" "MESH:C567683" "DOID:0110453" "OMIM:613252" "GARD:15639" "MEDGEN:412965" "UMLS:C2750466" - "PMID:35347128" "UMLS:C0030554" "SNOMEDCT_US:91019004" "OMIM:615356" @@ -90284,8 +90056,8 @@ "Orphanet:1272" "SCTID:720955004" "UMLS:C0795941" - "SCTID:181948009" "FMA:23466" + "SCTID:181948009" "VSAO:0005013" "UMLS:C0041600" "GAID:188" @@ -90320,7 +90092,6 @@ "PMID:25658343" "MeSH:D002784" "PMID:25308664" - "Beilstein:2060565" "PDBeChem:CLR" "PMID:8838010" "PMID:37794183" @@ -90585,12 +90356,12 @@ "MEDGEN:934645" "UMLS:C4310678" "OMIM:617182" + "ICD10:Q96.2" + "ICD10:Q96.1" "MEDGEN:1386340" "DOID:3318" "NCIT:C38151" "UMLS:C4518194" - "ICD10:Q96.2" - "ICD10:Q96.1" "PMID:28240269" "PMID:29875488" "NCIt:C568" @@ -90701,10 +90472,11 @@ "ICD10:Q73.8" "OMIM:617086" "OMIM:614388" - "PMID:29875488" "PMID:28240269" + "PMID:29875488" "Orphanet:482072" "PMID:29875488" + "ICD10:Q87.8" "UMLS:C0796021" "MedDRA:10062600" "GARD:264" @@ -90714,7 +90486,6 @@ "MESH:C537038" "SCTID:721975004" "OMIM:226960" - "ICD10:Q87.8" "RRID:CVCL_E839" "SNOMEDCT:18414002" "PMID:16886665" @@ -90736,7 +90507,6 @@ "PMID:24304198" "PMID:17156784" "KEGG:C05443" - "Beilstein:2339331" "PDBeChem:VD3" "PMID:2997282" "Reaxys:2339331" @@ -90925,6 +90695,10 @@ "SCTID:92068002" "MEDGEN:56328" "MONDO:0006105" + "OMIM:269150" + "MedDRA:10063540" + "ICD10:Q87.0" + "UMLS:C0265227" "UMLS:C1832354" "SCTID:715529009" "Orphanet:3235" @@ -90933,10 +90707,6 @@ "GARD:5170" "icd11.foundation:1909954882" "MESH:C563316" - "OMIM:269150" - "MedDRA:10063540" - "ICD10:Q87.0" - "UMLS:C0265227" "MO:824" "PMID:38565889" "Orphanet:93973" @@ -91211,8 +90981,8 @@ "MeSH:D054058" "SNOMEDCT:394659003" "MESH:D054058" - "MEDGEN:215295" "NCIt:C53652" + "MEDGEN:215295" "SCTID:394659003" "MedDRA:10051592" "NCIT:C53652" @@ -91444,7 +91214,6 @@ "MedDRA:10078802" "OMIM:617675" "MedDRA:10027710" - "PMID:33619548" "MEDGEN:1798912" "Orphanet:488191" "GARD:17887" @@ -91454,6 +91223,7 @@ "GARD:16035" "OMIM:615959" "UMLS:C4014814" + "PMID:33619548" "OMIM:612868" "UMLS:C2748502" "GARD:16880" @@ -91817,7 +91587,6 @@ "MESH:C535799" "MEDGEN:163223" "DOID:0112195" - "KEGG COMPOUND:C08677" "NCIt:C38053" "ICD9:89.52" "MeSH:D004562" @@ -91834,6 +91603,7 @@ "NCIT:C98878" "NCIt:C12869" "BTO:0001702" + "KEGG COMPOUND:C08677" "DSSTox_Generic_SID:40416" "UMLS:C0013362" "SNOMEDCT_US:8011004" @@ -91877,7 +91647,6 @@ "Drug_Central:198" "PMID:10930630" "CAS:69-53-4" - "Beilstein:4300240" "PMID:24474427" "PMID:14455820" "PDBeChem:AIC" @@ -91930,7 +91699,6 @@ "NCIT:C9134" "DOID:5592" "PMID:28613276" - "ICD10:Q99.8" "MESH:C567404" "GARD:12900" "SCTID:768666006" @@ -91944,6 +91712,7 @@ "MeSH:C537174" "OMIM:600331" "ICD10:Q87.8" + "ICD10:Q99.8" "PMID:37794183" "MEDGEN:1709039" "GARD:18736" @@ -92411,7 +92180,6 @@ "PDBeChem:PBE" "DrugBank:DB04284" "KNApSAcK:C00002074" - "Beilstein:3542403" "PMID:24704554" "PMID:25056547" "PMID:28240269" @@ -92520,7 +92288,6 @@ "CAS:25953-19-9" "DrugBank:DB01327" "LINCS:LSM-34744" - "Beilstein:4169371" "PMID:6176550" "HMDB:HMDB0015422" "MeSH:D002437" @@ -92673,7 +92440,6 @@ "OMIM:614435" "UMLS:C3280795" "MedDRA:10021076" - "OMIM:617308" "EHDAA:7009" "FMA:9704" "WBbt:0005777" @@ -92683,6 +92449,7 @@ "BTO:0001409" "XAO:0000144" "WBbt:0004540" + "OMIM:617308" "PMID:20325309" "PMID:28316592" "DrugBank:DB01051" @@ -92868,8 +92635,8 @@ "KEGG DRUG:446-86-6" "KEGG:D00238" "PMID:9273463" - "PMID:25248004" "PMID:15628319" + "PMID:25248004" "SNOMEDCT:372574004" "PMID:25443086" "Wikipedia:Azathioprine" @@ -92899,11 +92666,11 @@ "ICD10:H18.5" "UMLS:C1857572" "MeSH:C535473" + "UMLS:C0267557" + "SNOMEDCT_US:15699003" "PMID:29875488" "CAS:14402-89-2" "PMID:25425768" - "UMLS:C0267557" - "SNOMEDCT_US:15699003" "NCIT:C140268" "UMLS:C0270749" "MEDGEN:78726" @@ -92996,11 +92763,11 @@ "UMLS:C4082197" "SCTID:715795005" "Orphanet:64749" - "PMID:35050183" "MEDGEN:858066" "NCIT:C114940" "DOID:176" "UMLS:C3898472" + "PMID:35050183" "MESH:C563575" "MEDGEN:1686757" "GARD:16486" @@ -93075,11 +92842,6 @@ "ICD10CM:Q78.0" "Orphanet:2763" "PMID:37794183" - "ICD10:E75.2" - "UMLS:C1858991" - "UMLS:C2931489" - "OMIM:603896" - "MeSH:C537420" "MONDO:0005688" "icd11.foundation:1012026026" "SCTID:86500004" @@ -93088,6 +92850,11 @@ "MEDGEN:14296" "MeSH:D002169" "MESH:D002169" + "ICD10:E75.2" + "UMLS:C1858991" + "UMLS:C2931489" + "OMIM:603896" + "MeSH:C537420" "PMID:37794183" "OMIM:268315" "UMLS:C1849333" @@ -93110,7 +92877,6 @@ "SNOMEDCT_US:205091006" "UMLS:C0728829" "HMDB:HMDB0006547" - "Beilstein:1712973" "Reaxys:1712973" "KEGG:C16300" "LIPID_MAPS_instance:LMFA01030357" @@ -93221,8 +92987,8 @@ "EFO:1000239" "DOID:7139" "MEDGEN:309057" - "icd11.foundation:845680139" "UMLS:C1516858" + "icd11.foundation:845680139" "PMID:29875488" "UMLS:C2931672" "MEDGEN:419468" @@ -93344,9 +93110,9 @@ "PMID:26792818" "PMID:36209301" "PMID:35347128" - "Orphanet:98553" "MO:86" "MO:61" + "Orphanet:98553" "UMLS:C5551510" "DOID:0112022" "GARD:22669" @@ -93354,11 +93120,11 @@ "MEDGEN:1790509" "PMID:37164013" "PMID:29875488" + "PMID:34815255" "NCIT:C40277" "UMLS:C1519914" "MEDGEN:274378" "DOID:4117" - "PMID:34815255" "PMID:23823483" "MONDO:0005719" "MESH:D018352" @@ -94026,10 +93792,10 @@ "CAS:17090-79-8" "LINCS:LSM-5659" "KEGG:C06693" - "KEGG COMPOUND:C17962" "ICD10:Q87.0" "OMIM:300484" "UMLS:C0796101" + "KEGG COMPOUND:C17962" "SCTID:715474004" "OMIM:228900" "GARD:9879" @@ -94349,7 +94115,6 @@ "Reaxys:825455" "PMID:24782104" "PMID:15813220" - "Beilstein:825455" "Wikipedia:Benomyl" "PMID:25104429" "PMID:25045800" @@ -94399,7 +94164,6 @@ "OMIM:611383" "ICD10:H35.5" "OMIM:605472" - "PMID:35013273" "Orphanet:93218" "MedDRA:10008724" "MEDGEN:8584" @@ -94413,6 +94177,7 @@ "UMLS:C0013903" "GARD:1301" "DOID:12714" + "PMID:35013273" "PMID:37794183" "UMLS:C1849348" "MeSH:C535677" @@ -94563,8 +94328,8 @@ "icd11.foundation:581886860" "SCTID:445928005" "NORD:1081" - "PMID:29875488" "ZFS:0000031" + "PMID:29875488" "PMID:35347128" "DOID:4808" "UMLS:C0014378" @@ -94906,20 +94671,20 @@ "MEDGEN:7038" "UMLS:C0021070" "PMID:33634981" - "MedDRA:10009887" - "NCIT:C26723" + "HP:0002583" "MedDRA:10009902" + "UMLS:C0009319" + "SNOMEDCT:64226004" + "SCTID:64226004" "MESH:D003092" - "ICD9:558.9" - "MEDGEN:40385" - "HP:0002583" "MONDO:0005292" - "DOID:0060180" - "SNOMEDCT:64226004" - "UMLS:C0009319" "NCIt:C26723" - "SCTID:64226004" + "NCIT:C26723" + "ICD9:558.9" "MeSH:D003092" + "MEDGEN:40385" + "MedDRA:10009887" + "DOID:0060180" "ChEMBL:848198" "CAS:1465-25-4" "Beilstein:3707471" @@ -95174,6 +94939,10 @@ "Orphanet:98130" "ICD9:758.5" "SCTID:429442006" + "UMLS:C0796038" + "MeSH:C538158" + "OMIM:248950" + "ICD10:Q87.8" "UMLS:C0856863" "UMLS:C0014871" "GAID:292" @@ -95182,10 +94951,6 @@ "MESH:D004943" "SCTID:362130006" "NCIT:C32668" - "UMLS:C0796038" - "MeSH:C538158" - "OMIM:248950" - "ICD10:Q87.8" "PMID:29875488" "DOID:10187" "UMLS:C1333455" @@ -95250,8 +95015,8 @@ "MESH:D003315" "EV:0100341" "EFO:0000377" - "PMID:35347128" "PMID:37794183" + "PMID:35347128" "Orphanet:3412" "GARD:272" "icd11.foundation:1646268729" @@ -95282,13 +95047,6 @@ "Orphanet:29073" "PMID:35347128" "GO:0004336" - "MedDRA:10052313" - "ICD10:I15.1" - "MeSH:D056929" - "OMIM:177200" - "MedDRA:10037113" - "UMLS:C0221043" - "OMIM:618126" "MedDRA:10065551" "ICD10:F01.1" "OMIM:125310" @@ -95305,6 +95063,13 @@ "MESH:C535865" "GARD:2045" "PMID:28355232" + "MedDRA:10052313" + "ICD10:I15.1" + "MeSH:D056929" + "OMIM:177200" + "MedDRA:10037113" + "UMLS:C0221043" + "OMIM:618126" "MEDGEN:767353" "UMLS:C3554439" "GARD:17468" @@ -95330,6 +95095,7 @@ "OMIM:619725" "UMLS:C4023476" "PMID:35668104" + "OMIM:607823" "SNOMEDCT:442143003" "EMAPA:28393" "Wikipedia:Distal_convoluted_tubule" @@ -95339,17 +95105,16 @@ "NCIT:C32469" "EV:0100389" "UMLS:C0022676" - "OMIM:607823" "MeSH:D052958" - "GARD:21705" - "Orphanet:401923" - "UMLS:C4750910" - "MEDGEN:1665719" "EFO:1000604" "MEDGEN:76010" "UMLS:C0279653" "MONDO:0006476" "NCIT:C9167" + "GARD:21705" + "Orphanet:401923" + "UMLS:C4750910" + "MEDGEN:1665719" "GARD:22643" "UMLS:C2829265" "OMIM:614617" @@ -95368,10 +95133,6 @@ "GARD:17261" "MEDGEN:453209" "PMID:29875488" - "UMLS:C2931373" - "OMIM:607214" - "MeSH:C536948" - "ICD10:Q87.8" "Orphanet:261120" "OMIM:613457" "SCTID:719047001" @@ -95379,6 +95140,10 @@ "GARD:17241" "UMLS:C3150707" "DOID:0060392" + "UMLS:C2931373" + "OMIM:607214" + "MeSH:C536948" + "ICD10:Q87.8" "DECIPHER:44" "UMLS:C2931817" "MESH:C538317" @@ -95809,7 +95574,6 @@ "PMID:28199414" "Reaxys:1890696" "KEGG:C03690" - "Beilstein:1890696" "MetaCyc:BIS2-ETHYLHEXYLPHTHALATE" "PMID:17286146" "PMID:28763719" @@ -95985,7 +95749,6 @@ "PMID:24595455" "Patent:DE1942693" "Reaxys:4274654" - "Beilstein:4274654" "Patent:GB978178" "PMID:27731424" "NCIt:C237" @@ -96258,8 +96021,8 @@ "UMLS:C5543554" "MEDGEN:1782083" "OMIM:619376" - "UMLS:C4022012" "OMIM:304350" + "UMLS:C4022012" "OMIM:603689" "MedDRA:10014881" "ICD9:127.4" @@ -96433,7 +96196,6 @@ "UMLS:C0342280" "Gmelin:344067" "PMID:12429352" - "Beilstein:1913148" "CAS:115-06-0" "Reaxys:1913148" "GARD:21328" @@ -96547,8 +96309,8 @@ "NANDO:2100154" "MESH:D011081" "NANDO:2200428" - "SNOMEDCT:312898002" "Orphanet:178493" + "SNOMEDCT:312898002" "MedDRA:10082754" "MONDO:0015807" "MEDGEN:676480" @@ -96568,6 +96330,7 @@ "UMLS:C0699790" "Orphanet:102284" "PMID:29875488" + "PMID:28240269" "MeSH:D048089" "DOID:13274" "SNOMEDCT_US:128334002" @@ -96587,7 +96350,6 @@ "Orphanet:199351" "MO:716" "NCIt:C62333" - "PMID:28240269" "MEDGEN:231461" "UMLS:C1332611" "DOID:6501" @@ -96639,8 +96401,8 @@ "ICD10CM:G89.4" "NCIt:C34452" "MedDRA:10007736" - "OMIM:262700" "PMID:23823483" + "OMIM:262700" "DOID:0081287" "OMIM:193900" "MEDGEN:860363" @@ -96965,8 +96727,6 @@ "DOID:10188" "UMLS:C0347394" "PMID:29875488" - "RRID:CVCL_G042" - "PMID: 19466639" "MESH:D010304" "SCTID:71906005" "MEDGEN:45334" @@ -97024,6 +96784,8 @@ "PMID:27249899" "SNOMEDCT:54765002" "Patent:US1954389" + "RRID:CVCL_G042" + "PMID: 19466639" "MEDGEN:83291" "DOID:774" "SCTID:232075002" @@ -97049,7 +96811,6 @@ "icd11.foundation:2108931494" "PMID:37794183" "PMID:35347128" - "MONDO:0005301" "Chemspider:24823001" "LIPID_MAPS_instance:LMGP01050003" "NCIT:C3453" @@ -97073,6 +96834,7 @@ "SCTID:302824004" "icd11.foundation:375645550" "GARD:0007918" + "MONDO:0005301" "PMID:37794183" "NANDO:1200671" "MESH:D011038" @@ -97282,6 +97044,7 @@ "icd11.foundation:1753713002" "DOID:0070317" "Orphanet:181425" + "PMID:37794183" "SCTID:733473000" "Orphanet:96078" "MEDGEN:462058" @@ -97323,7 +97086,6 @@ "PMID:20078085" "PMID:12140173" "CiteXplore:3507253" - "PMID:37794183" "OMIM:600457" "Orphanet:3387" "SCTID:717963001" @@ -97492,7 +97254,6 @@ "MESH:C536746" "SCTID:239023005" "Reaxys:3906817" - "Beilstein:3906817" "Gmelin:329972" "MONDO:0002658" "SCTID:188264002" @@ -97716,10 +97477,10 @@ "MO:778" "PMID:35347128" "PMID:37794183" - "ZFA:0000130" "MEDGEN:1840955" "UMLS:C5830319" "OMIM:620270" + "ZFA:0000130" "MeSH:D000027" "NCIt:C50608" "MedDRA:10021634" @@ -97917,11 +97678,6 @@ "PMID:24816252" "OMIM:137763" "MeSH:D060750" - "SCTID:724070005" - "UMLS:C4510306" - "Orphanet:261304" - "GARD:20777" - "MEDGEN:1390091" "FMA:83036" "MESH:D003713" "BTO:0002042" @@ -97931,6 +97687,11 @@ "SNOMEDCT:127942009" "CALOHA:TS-0194" "SNOMEDCT:37510001" + "SCTID:724070005" + "UMLS:C4510306" + "Orphanet:261304" + "GARD:20777" + "MEDGEN:1390091" "PMID:33713409" "UMLS:C0266312" "NCIt:C103918" @@ -97973,10 +97734,10 @@ "UMLS:C0426970" "Orphanet:93604" "PMID:29875488" - "FMA:72356" - "MeSH:D018728" "ICD10:E72.8" "OMIM:300352" + "FMA:72356" + "MeSH:D018728" "PMID:29875488" "UMLS:C1840457" "RRID:CVCL_1K15" @@ -98549,8 +98310,8 @@ "OMIM:617319" "OMIM:107250" "ICD10:Q13.8" - "PMID:33634981" "OMIM:601561" + "PMID:33634981" "Orphanet:289596" "ICD10CM:D10.6" "UMLS:C1367536" @@ -98652,7 +98413,6 @@ "PMID:36006120" "PMID:37794183" "Wikipedia:Pyroglutamic_acid" - "Beilstein:82131" "Reaxys:82131" "PMID:23217740" "CAS:149-87-1" @@ -98736,7 +98496,6 @@ "UMLS:C0391826" "UMLS:C1266181" "ICD10:Q04.8" - "PMID:37794183" "OMIM:601706" "Orphanet:3214" "MESH:C536771" @@ -98745,6 +98504,7 @@ "UMLS:C1866425" "SCTID:721084001" "icd11.foundation:2090985024" + "PMID:37794183" "PMID:37794183" "PMID:33441150" "PMID:33927553" @@ -98977,10 +98737,10 @@ "UMLS:C0018681" "ICD10:R51" "PMID:29875488" - "PMID:28628107" "SNOMEDCT_US:40159009" "UMLS:C0024433" "PMID:37253714" + "PMID:28628107" "MESH:C567843" "MEDGEN:414119" "UMLS:C2751831" @@ -99137,11 +98897,11 @@ "MEDGEN:509876" "ICD9:376.0" "SCTID:20551005" - "PMID:29875488" - "PMID:29875488" "SNOMEDCT:246115007" "PATO:0000117" "NCIt:C25681" + "PMID:29875488" + "PMID:29875488" "UMLS:C1856603" "Orphanet:33574" "OMIM:230450" @@ -99598,7 +99358,6 @@ "NCIt:C66869" "PMID:31636311" "CAS:114798-26-4" - "Beilstein:4770867" "PMID:18800458" "PMID:18800450" "PMID:11589260" @@ -99944,6 +99703,7 @@ "ICD10:Q82.1" "UMLS:C1848410" "MeSH:C536766" + "PMID:29875488" "SCTID:233604007" "UMLS:C0032285" "MedDRA:10035664" @@ -99964,7 +99724,6 @@ "SNOMEDCT:233604007" "MEDGEN:10813" "MESH:D011014" - "PMID:29875488" "MONDO:0017332" "Orphanet:289478" "MO:933" @@ -100607,16 +100366,16 @@ "NANDO:2100235" "NANDO:2200876" "ICD9:759.89" - "Wikipedia:Ribulose_5-phosphate" "OMIM:603457" "ICD10:Q87.0" + "Wikipedia:Ribulose_5-phosphate" + "PMID:36006120" "PMID:23897579" "OMIM:613576" "GARD:17199" "Orphanet:247827" "UMLS:C3150809" "MEDGEN:462159" - "PMID:36006120" "PMID:19347970" "PMID:21930197" "Reaxys:85302" @@ -100635,7 +100394,6 @@ "MeSH:D002193" "SNOMEDCT:86218002" "PMID:21668865" - "Beilstein:85302" "PMID:20594813" "ChemIDplus:56-25-7" "Wikipedia:Cantharidin" @@ -100867,7 +100625,6 @@ "DOID:0050565" "Drug_Central:1670" "PMID:10916782" - "Beilstein:1769194" "DrugBank:DB04377" "PMID:4717513" "KEGG:D04897" @@ -100882,6 +100639,7 @@ "KNApSAcK:C00001187" "PDBeChem:MAH" "PMID:17941049" + "PMID:35888748" "MedDRA:10049644" "OMIM:194050" "SCTID:63247009" @@ -100897,7 +100655,6 @@ "DOID:1928" "NORD:1854" "NANDO:2200286" - "PMID:35888748" "NCIT:C123263" "DOID:0060879" "OMIMPS:602014" @@ -100975,9 +100732,9 @@ "UMLS:C0023452" "MEDGEN:44122" "NCIT:C3168" + "PMID:37794183" "PMID:33441150" "PMID:24627715" - "PMID:37794183" "PMID:26921259" "MEDGEN:1799995" "UMLS:C5568572" @@ -101268,7 +101025,6 @@ "MEDGEN:113158" "UMLS:C4024921" "Wikipedia:Quinolinic_acid" - "Beilstein:137110" "PMID:16008534" "PMID:11462760" "HMDB:HMDB0000232" @@ -101481,7 +101237,6 @@ "CAS:362-74-3" "Wikipedia:Bucladesine" "PMID:29963999" - "Beilstein:871714" "LINCS:LSM-1926" "MeSH:D003994" "NCIt:C83562" @@ -101649,7 +101404,6 @@ "PMID:18052874" "PMID:19426658" "MeSH:D002738" - "Beilstein:482809" "Gmelin:781126" "PMID:25285162" "NCIt:C61671" @@ -101685,7 +101439,6 @@ "Reaxys:4176501" "MetaCyc:CPD-568" "PMID:8446047" - "Beilstein:4176501" "PMID:28240269" "PMID:35668104" "Orphanet:275752" @@ -101905,8 +101658,8 @@ "DOID:2962" "NCIt:C9460" "MeSH:D003057" - "PMID:23823483" "OMIM:604320" + "PMID:23823483" "MO:213" "NCIt:C20134" "MeSH:D012907" @@ -101987,7 +101740,6 @@ "PMID:15240786" "PMID:15901921" "PMID:17484107" - "Beilstein:605349" "PMID:22136129" "PMID:7767980" "NCIt:C44329" @@ -102081,9 +101833,6 @@ "MESH:D047808" "UMLS:C0302280" "ICD9:255.2" - "UMLS:C1841989" - "OMIM:137940" - "MeSH:C536825" " CLO:0050249" "RRID:CVCL_3155" "CLO:0008820" @@ -102099,6 +101848,9 @@ "XAO:0003030" "EMAPA:17412" "BTO:0001729" + "UMLS:C1841989" + "OMIM:137940" + "MeSH:C536825" "MeSH:D020203" "PMID:37794183" "MEDGEN:60009" @@ -102119,6 +101871,9 @@ "icd11.foundation:1631611896" "Orphanet:79166" "DOID:0050339" + "OMIM:300000" + "OMIM:145410" + "ICD10:Q87.8" "MedDRA:10003601" "MESH:D050197" "NCIT:C35771" @@ -102135,9 +101890,6 @@ "DOID:1936" "MONDO:0005311" "UMLS:C0004153" - "OMIM:300000" - "OMIM:145410" - "ICD10:Q87.8" "PMID:28240269" "GARD:2229" "MEDGEN:384007" @@ -102420,7 +102172,6 @@ "Reaxys:742467" "CAS:120-83-2" "KEGG:C02625" - "Beilstein:742467" "PMID:10633543" "Wikipedia:2,4-Dichlorophenol" "PMID:35668104" @@ -102489,6 +102240,14 @@ "NCIt:C12477" "FMA:54537" "BTO:0000099" + "SCTID:92272009" + "ICD9:227.1" + "MEDGEN:57814" + "UMLS:C0154041" + "NCIT:C3630" + "icd11.foundation:455097662" + "ICD10CM:D35.1" + "DOID:60008" "ICD10:E51.1" "ICD9:265.0" "MeSH:D001602" @@ -102503,14 +102262,6 @@ "MONDO:0006676" "SNOMEDCT:36656008" "MESH:D001602" - "SCTID:92272009" - "ICD9:227.1" - "MEDGEN:57814" - "UMLS:C0154041" - "NCIT:C3630" - "icd11.foundation:455097662" - "ICD10CM:D35.1" - "DOID:60008" "PMID:28240269" "MEDGEN:82998" "UMLS:C0278863" @@ -103448,14 +103199,14 @@ "MESH:C536680" "SCTID:715987000" "OMIM:270460" + "UMLS:C1135812" + "SNOMEDCT_US:263029007" "DOID:8138" "MONDO:0006452" "MEDGEN:234772" "EFO:1000577" "NCIT:C6463" "UMLS:C1335924" - "UMLS:C1135812" - "SNOMEDCT_US:263029007" "MEDGEN:44264" "ICD9:151.4" "UMLS:C0024623" @@ -103686,7 +103437,6 @@ "HMDB:HMDB0003045" "Wikipedia:Ergothioneine" "PMID:26713511" - "Beilstein:5755696" "PMID:23922985" "Reaxys:8411606" "PMID:26579093" @@ -103824,8 +103574,8 @@ "NCIT:C26832" "icd11.foundation:1993728609" "UMLS:C0026975" - "ICD9:323.9" "DOID:322" + "ICD9:323.9" "MEDGEN:10230" "MedDRA:10028524" "MEDGEN:1823997" @@ -103921,9 +103671,9 @@ "NCIT:C133727" "Orphanet:2323" "MESH:C537157" + "PMID:37596262" "OMIM:614253" "ICD10:K00.5" - "PMID:37596262" "PMID:29875488" "UMLS:C0221259" "SNOMEDCT_US:60332004" @@ -103998,21 +103748,20 @@ "MeSH:D009837" "NCIt:C4050" "DOID:7912" - "Drug_Central:1400" - "LINCS:LSM-5103" + "VSDB:2977" + "PMID:15233966" "KEGG:C07045" "PMID:19348661" + "Wikipedia:Hydroxyzine" "KEGG:D08054" - "DrugBank:DB00557" - "Beilstein:321392" + "PMID:19057127" "HMDB:HMDB0014697" + "DrugBank:DB00557" + "Drug_Central:1400" "Reaxys:321392" - "PMID:19057127" - "PMID:15233966" - "Wikipedia:Hydroxyzine" - "Patent:US2899436" - "VSDB:2977" "CAS:68-88-2" + "LINCS:LSM-5103" + "Patent:US2899436" "PMID:29875488" "Orphanet:314572" "UMLS:C4749919" @@ -104087,7 +103836,6 @@ "PMID:23319439" "Patent:US5639643" "HMDB:HMDB0000440" - "Beilstein:2086506" "PMID:7264927" "PMID:5350345" "PMID:19083460" @@ -104133,6 +103881,7 @@ "MESH:C563646" "PMID:35995766" "PMID:28240269" + "ICD10:Q93.5" "EFO:0003628" "Wikipedia:Membrana_granulosa" "SCTID:258971005" @@ -104141,7 +103890,6 @@ "EMAPA:35633" "TAO:0001112" "MA:0001460" - "ICD10:Q93.5" "SNOMEDCT:55235003" "NCIt:C64548" "PMID:36168886" @@ -104190,8 +103938,8 @@ "NCIT:C45655" "EFO:1000521" "FMA:61906" - "PMID:23823483" "MO:392" + "PMID:23823483" "PMID:29875488" "DOID:0050466" "UMLS:C2697932" @@ -104360,7 +104108,6 @@ "KEGG:C01420" "PMID:24525029" "PMID:18608550" - "Beilstein:1728091" "CAS:923-32-0" "Reaxys:1728091" "Gmelin:83347" @@ -104511,9 +104258,9 @@ "NCIt:C86138" "MeSH:D016960" "SNOMEDCT:438107000" - "UMLS:C0151583" "UMLS:C0020476" "SNOMEDCT_US:3744001" + "UMLS:C0151583" "UMLS:C0496859" "NCIT:C4772" "MEDGEN:105420" @@ -105489,7 +105236,6 @@ "PMID:29875488" "PMID:37794183" "OMIM:609069" - "Beilstein:3605209" "Gmelin:3417" "KEGG:C00805" "UM-BBD_compID:c0043" @@ -105643,8 +105389,8 @@ "Orphanet:163699" "ICD10:C49.9" "OMIM:606243" - "SCTID:404056007" "MONDO:0011655" + "SCTID:404056007" "ICD9:171.9" "NCIT:C7943" "GARD:16385" @@ -105728,7 +105474,6 @@ "PDBeChem:GEN" "PMID:24023812" "PMID:22303062" - "Beilstein:263823" "DrugBank:DB01645" "PMID:28166217" "KEGG:C06563" @@ -105807,18 +105552,18 @@ "DOID:0050588" "OMIM:613155" "UMLS:C5436962" - "DOID:13129" - "ICD9:642.50" - "icd11.foundation:479404771" - "UMLS:C0341950" - "NCIT:C112843" - "MEDGEN:574734" "MEDGEN:349246" "OMIM:205100" "UMLS:C1859807" "DOID:0060194" "MESH:C565957" "GARD:15137" + "DOID:13129" + "ICD9:642.50" + "icd11.foundation:479404771" + "UMLS:C0341950" + "NCIT:C112843" + "MEDGEN:574734" "Orphanet:2552" "MedDRA:10053982" "MEDGEN:39278" @@ -106313,8 +106058,11 @@ "PMID:29875488" "UMLS:CN202699" "Orphanet:280195" - "KEGG COMPOUND:C00544" - "HMDB:0000130" + "RRID:CVCL_5591" + "CLO:0009919" + "BTO:0005476" + "PMID:10718481" + "PMID:10604729" "ICD9:126.8" "ICD9:126.9" "UMLS:C0002831" @@ -106331,11 +106079,8 @@ "NCIT:C35805" "MEDGEN:1522" "Orphanet:78" - "RRID:CVCL_5591" - "CLO:0009919" - "BTO:0005476" - "PMID:10718481" - "PMID:10604729" + "KEGG COMPOUND:C00544" + "HMDB:0000130" "Orphanet:16" "OMIM:303700" "DOID:0050679" @@ -106379,18 +106124,18 @@ "FMA:7394" "EFO:0000935" "PMID:36168886" + "UMLS:C0020258" + "MONDO:0009366" "SCTID:30753002" + "Orphanet:314928" "MESH:D006850" - "MedDRA:10029773" "SNOMEDCT:30753002" - "OMIM:236690" - "Orphanet:314928" - "MeSH:D006850" "ICD9:331.5" - "DOID:1572" - "MONDO:0009366" - "UMLS:C0020258" "MEDGEN:42526" + "DOID:1572" + "MedDRA:10029773" + "MeSH:D006850" + "OMIM:236690" "GARD:4098" "SCTID:254068007" "MESH:C537122" @@ -106441,8 +106186,6 @@ "Orphanet:397587" "UMLS:C1395264" "NCIT:C35073" - "OMIM:614229" - "ICD10:G11.1" "NANDO:1201077" "icd11.foundation:1401673748" "SCTID:717792007" @@ -106452,6 +106195,8 @@ "MEDGEN:420958" "OMIM:612462" "MESH:C548076" + "OMIM:614229" + "ICD10:G11.1" "ZFA:0001072" "UMLS:C0229577" "EMAPA:19307" @@ -106479,13 +106224,13 @@ "SCTID:764812008" "UMLS:C4707155" "PMID:35347128" + "NCIt:C12748" "DOID:0080647" "UMLS:C2698312" "GARD:22346" "Orphanet:585942" "MEDGEN:437498" "NCIT:C80338" - "NCIt:C12748" "MEDGEN:163204" "SCTID:449817000" "Orphanet:709" @@ -106607,7 +106352,6 @@ "VSDB:2975" "Patent:WO2008060572" "PMID:22946876" - "Beilstein:2359739" "PMID:22467888" "Patent:WO2010023694" "PMID:22345405" @@ -106644,14 +106388,14 @@ "ICD9:204.9" "ICDO:9835/3" "MEDGEN:7317" - "Wikipedia:Erythrasma" - "MedDRA:10015248" - "DOID:4131" "SNOMEDCT_US:422400008" "SNOMEDCT_US:300359004" "UMLS:C0042963" "SNOMEDCT_US:249497008" "MEDDRA:10047700" + "Wikipedia:Erythrasma" + "MedDRA:10015248" + "DOID:4131" "PMID:28240269" "MeSH:D019342" "PMID:16774200" @@ -106674,7 +106418,6 @@ "Drug_Central:4211" "CAS:64-19-7" "PMID:12005138" - "Beilstein:506007" "Reaxys:506007" "SNOMEDCT:2869004" "PDBeChem:ACY" @@ -106743,11 +106486,11 @@ "OMIM:620014" "UMLS:C5774203" "DOID:0081030" - "PMID:24816252" "ICD10:Q87.8" "OMIM:311900" "MeSH:C536942" "UMLS:C1839463" + "PMID:24816252" "PMID:33634981" "MEDGEN:1842423" "UMLS:C5681010" @@ -106761,9 +106504,9 @@ "PMID:35347128" "MeSH:D020250" "PMID:29875488" - "MO:23" "OMIM:313900" "ICD10:D69.4" + "MO:23" "NCIt:C64780" "MO:721" "SNOMEDCT:258775009" @@ -106873,8 +106616,8 @@ "BSA:0000089" "GAID:173" "MAT:0000453" - "Orphanet:295065" "SNOMEDCT:24965006" + "Orphanet:295065" "DrugBank:DB04224" "Gmelin:109551" "SNOMEDCT:427281002" @@ -106888,7 +106631,6 @@ "Wikipedia:Oleic_acid" "PMID:25794012" "HMDB:HMDB0000207" - "Beilstein:1726542" "PMID:19761868" "KEGG:D02315" "PMID:18772370" @@ -106931,15 +106673,15 @@ "MEDGEN:83868" "SCTID:189130001" "NCIT:C6434" - "UMLS:C0795830" - "UMLS:C0265425" - "ICD10:Q93.5" - "OMIM:158170" "KEGG:C15637" "Beilstein:2706221" "MeSH:D011285" "CAS:1434-54-4" "LINCS:LSM-2870" + "UMLS:C0795830" + "UMLS:C0265425" + "ICD10:Q93.5" + "OMIM:158170" "UMLS:C1846434" "PMID:37794183" "UMLS:C4023701" @@ -107313,7 +107055,6 @@ "Reaxys:95226" "Patent:US3069329" "LIPID_MAPS_instance:LMPK13060001" - "Beilstein:95226" "PPDB:1807" "KEGG:C06686" "PMID:3277037" @@ -107408,7 +107149,6 @@ "PMID:22268687" "PMID:35347128" "PMID:35668104" - "NCIt:C129690" "Orphanet:210548" "MEDGEN:381416" "MESH:C565342" @@ -107420,6 +107160,7 @@ "UMLS:C4750848" "MEDGEN:1655582" "Orphanet:370010" + "NCIt:C129690" "NCIt:C122523" "MedDRA:10058931" "MEDGEN:509492" @@ -107512,6 +107253,17 @@ "NIFSTD:sao789292116" "SNOMEDCT:63483002" "FMA:54539" + "SNOMEDCT:70650003" + "MONDO:0006678" + "MESH:D001744" + "UMLS:C0005683" + "DOID:11355" + "MEDGEN:14149" + "MedDRA:10005001" + "MeSH:D001744" + "ICD9:594.1" + "SCTID:70650003" + "NCIt:C26707" "UMLS:C0877024" "NCIT:C135087" "DOID:0060490" @@ -107528,17 +107280,6 @@ "NANDO:2200711" "RRID:CVCL_C836" "BTO:0005717" - "SNOMEDCT:70650003" - "MONDO:0006678" - "MESH:D001744" - "UMLS:C0005683" - "DOID:11355" - "MEDGEN:14149" - "MedDRA:10005001" - "MeSH:D001744" - "ICD9:594.1" - "SCTID:70650003" - "NCIt:C26707" "PMID:29875488" "PMID:28240269" "PMID:35501403" @@ -107975,7 +107716,6 @@ "Reactome:R-HSA-9036061" "EC:3.2.1.23" "MetaCyc:3.2.1.23-RXN" - "MetaCyc:BGALACT-PWY" "Reactome:R-HSA-1605624" "Reactome:R-HSA-9840795" "Reactome:R-HSA-1793217" @@ -108065,7 +107805,6 @@ "KEGG:C06958" "CAS:42399-41-7" "VSDB:1863" - "Beilstein:3573079" "PMID:19167257" "Patent:US3562257" "KEGG:D07845" @@ -108155,7 +107894,6 @@ "PMID:17827020" "PMID:17973471" "PMID:12646037" - "Beilstein:1721898" "PMID:16854081" "SNOMEDCT:30761007" "MetaCyc:MANNITOL" @@ -108236,8 +107974,8 @@ "UMLS:C0154034" "ICD10CM:D33.4" "NCIT:C3627" - "NCIT:C6279" "NCIT:C40111" + "NCIT:C6279" "MEDGEN:232185" "UMLS:C1333592" "DOID:5831" @@ -108307,10 +108045,6 @@ "MeSH:D002590" "ICD10:B71" "DOID:933" - "ICD10CM:Q87.8" - "OMIM:236680" - "DOID:0050779" - "OMIM:614120" "BTO:0001197" "RRID:CVCL_2874" "CLO:0002333" @@ -108319,6 +108053,10 @@ "MEDGEN:307248" "DOID:6518" "PMID:31085678" + "ICD10CM:Q87.8" + "OMIM:236680" + "DOID:0050779" + "OMIM:614120" "PMID:37794183" "Orphanet:90037" "SCTID:309742004" @@ -108347,7 +108085,6 @@ "EHDAA2:0001707" "UMLS:C1849121" "UMLS:C1837463" - "PMID:29875488" "Orphanet:217385" "UMLS:C3808300" "MESH:C567705" @@ -108356,6 +108093,7 @@ "SCTID:719582007" "GARD:17122" "OMIM:613215" + "PMID:29875488" "PMID:37794183" "NCIt:C101888" "OMIMPS:607602" @@ -108458,7 +108196,6 @@ "SNOMEDCT:235796008" "PMID:29875488" "MeSH:C116926" - "Beilstein:8269007" "Drug_Central:2397" "PMID:16934051" "SNOMEDCT:387008005" @@ -108623,6 +108360,8 @@ "NCIt:C12622" "SNOMEDCT:56685008" "BTO:0004267" + "PMID:10718481" + "PMID:10604729" "icd11.foundation:2005274000" "SCTID:442652006" "UMLS:C0162576" @@ -108637,8 +108376,6 @@ "Orphanet:1070" "ICD10CM:B81.0" "GARD:693" - "PMID:10718481" - "PMID:10604729" "SCTID:255181009" "MEDGEN:138081" "UMLS:C0347354" @@ -108672,6 +108409,8 @@ "ICD10:Q87.8" "PMID:19347970" "SNOMEDCT:81454004" + "ICD10:E23.0" + "OMIM:300123" "NCIT:C131533" "GARD:10140" "SCTID:720565000" @@ -108681,8 +108420,6 @@ "NORD:1981" "MESH:C537419" "MEDGEN:208678" - "ICD10:E23.0" - "OMIM:300123" "PMID:33283231" "UMLS:C0742028" "ICD10:Q93.5" @@ -108743,7 +108480,6 @@ "NCIT:C150646" "UMLS:C4721887" "DOID:0110155" - "PMID:37164013" "NCIT:C5673" "MEDGEN:224904" "SCTID:399432003" @@ -108752,11 +108488,7 @@ "MONDO:0005484" "DOID:0050860" "UMLS:C1302401" - "MedDRA:10061976" - "DOID:1234" - "UMLS:C0017250" - "NCIt:C94362" - "ICD10:F64" + "PMID:37164013" "EMAPA:18256" "BTO:0001978" "NCIT:C12375" @@ -108777,6 +108509,11 @@ "MESH:C535780" "ICD9:758.89" "OMIM:272460" + "MedDRA:10061976" + "DOID:1234" + "UMLS:C0017250" + "NCIt:C94362" + "ICD10:F64" "MEDGEN:3623" "NCIT:C35505" "ICD9:414.00" @@ -108815,17 +108552,6 @@ "UMLS:C0339985" "MEDGEN:573462" "PMID:35347128" - "UMLS:C0015230" - "ICD9:782.1" - "DOID:0050486" - "Wikipedia:Exanthem" - "MEDGEN:8732" - "SCTID:271807003" - "MESH:D005076" - "NCIT:C39594" - "MedDRA:10015585" - "MONDO:0006547" - "HP:0000988" "OMIM:151380" "ICD10:C92.7" "ONCOTREE:AMOL" @@ -108877,6 +108603,17 @@ "SCTID:764940002" "GARD:17450" "Orphanet:319465" + "UMLS:C0015230" + "ICD9:782.1" + "DOID:0050486" + "Wikipedia:Exanthem" + "MEDGEN:8732" + "SCTID:271807003" + "MESH:D005076" + "NCIT:C39594" + "MedDRA:10015585" + "MONDO:0006547" + "HP:0000988" "UMLS:C0040425" "SNOMEDCT_US:90176007" "ICD10:J03" @@ -108984,103 +108721,102 @@ "OMIM:617660" "UMLS:C4540004" "MEDGEN:1621146" + "PMID:16720557" + "PMID:22180426" + "PMID:15318809" + "PMID:18800767" + "CAS:302-79-4" + "PMID:14605492" "PMID:17447762" - "PMID:11556813" - "PMID:15539337" - "PMID:19587328" - "PMID:17073551" - "PMID:22532966" - "PMID:16688769" - "PMID:18183617" + "PMID:7704533" + "PMID:15839997" + "KEGG:D00094" + "PMID:22514600" + "PMID:11343416" "PMID:14704332" - "PMID:19144697" - "CAS:302-79-4" - "PDBeChem:REA" - "KEGG:C00777" - "PMID:18162363" - "PMID:16569247" - "PMID:34091189" - "PMID:19597529" - "PMID:16920920" - "PMID:22177959" - "PMID:22428994" - "PMID:11214352" - "PMID:33820492" - "PMID:11896294" - "PMID:14581379" - "PMID:15376324" - "PMID:19841174" + "Drug_Central:2722" + "PMID:33662750" "Wikipedia:Tretinoin" - "LIPID_MAPS_instance:LMPR01090019" - "PMID:12958591" + "PMID:22532966" "PMID:18400206" + "PMID:34050114" + "PMID:16569247" + "PMID:22741806" + "PMID:34091189" + "PMID:34050360" + "PMID:17073551" + "DrugBank:DB00755" + "PMID:18318655" + "PMID:19427305" + "PMID:15194426" + "PMID:15675886" + "PMID:11722649" + "PMID:21993673" + "PMID:22534100" "PMID:11437362" - "PMID:15839997" - "FooDB:FDB022710" + "PMID:15476854" + "PMID:29492455" "PMID:22134377" - "PMID:15318809" - "Drug_Central:2722" - "PMID:18800767" - "HMDB:HMDB0001852" - "PMID:22741806" + "PMID:12958591" + "PMID:22244299" + "PMID:7961949" + "PMID:17204142" + "PMID:16847436" "PMID:19018099" - "PMID:22180426" "PMID:16685080" - "PMID:11343416" - "Beilstein:2057223" - "PMID:15359008" - "Reaxys:2057223" - "PMID:7501014" - "PMID:15476854" - "PMID:15537748" - "PMID:18678272" - "PMID:21924320" - "PMID:7961949" - "PMID:34050114" - "PMID:18977311" - "PMID:19814868" - "PMID:22534100" + "PMID:22428994" + "PMID:15539337" + "PMID:18404486" + "PMID:18183617" "PMID:10970886" - "PMID:14627725" + "PMID:16920920" "PMID:18052213" - "PMID:22261335" - "PMID:18085670" - "PMID:19427305" - "PMID:18440196" - "PMID:15327395" - "PMID:11904404" - "PMID:16819260" - "PMID:22244299" - "PMID:22538278" - "PMID:7704533" - "PMID:16720557" "PMID:14705145" - "PMID:15675886" - "PMID:19112091" - "PMID:33662750" + "PMID:14581379" "Wikipedia:Retinoic_acid" - "PMID:29492455" - "PMID:22514600" - "KEGG:D00094" - "PMID:18318655" - "PMID:21898109" - "PMID:18404486" - "PMID:14605492" "PMID:18322276" - "PMID:17166212" - "PMID:11073974" - "PMID:11332619" - "PMID:15194426" - "PMID:14978018" "PMID:10022884" - "PMID:21993673" - "PMID:11722649" - "PMID:16847436" - "DrugBank:DB00755" + "PMID:18085670" + "PMID:19587328" + "PMID:19112091" + "PMID:18678272" + "PMID:15376324" + "KEGG:C00777" + "PMID:19144697" + "PMID:19814868" + "PMID:22261335" + "PMID:21924320" + "PMID:22177959" + "PMID:15359008" "PMID:18819820" + "Reaxys:2057223" + "PMID:7501014" + "PMID:11556813" + "PMID:21898109" + "PMID:22538278" + "PMID:15537748" + "HMDB:HMDB0001852" + "PDBeChem:REA" + "PMID:33820492" "PMID:27759097" - "PMID:17204142" - "PMID:34050360" + "PMID:17166212" + "LIPID_MAPS_instance:LMPR01090019" + "PMID:15327395" + "PMID:11332619" + "PMID:14627725" + "PMID:11073974" + "FooDB:FDB022710" + "PMID:11214352" + "PMID:16688769" + "PMID:16819260" + "PMID:19597529" + "PMID:11904404" + "PMID:18440196" + "PMID:19841174" + "PMID:18162363" + "PMID:11896294" + "PMID:18977311" + "PMID:14978018" "NCIt:C48792" "SNOMEDCT:290004009" "MeSH:D004602" @@ -109088,8 +108824,8 @@ "UMLS:C2931296" "OMIM:600001" "PMID:28240269" - "OMIA:002587" "ICD10:Q87.8" + "OMIA:002587" "ICD10:Q13.8" "UMLS:C0265341" "MeSH:C535679" @@ -109209,8 +108945,9 @@ "FMA:74445" "MA:0000792" "Reactome:R-HSA-8949145" - "Reactome:R-HSA-210420" "Reactome:R-HSA-9663785" + "Reactome:R-HSA-210420" + "Reactome:R-HSA-9858800" "Reactome:R-HSA-3295579" "Reactome:R-HSA-8949178" "Reactome:R-HSA-139855" @@ -109338,7 +109075,6 @@ "Reaxys:506689" "PMID:17190852" "Gmelin:49877" - "Beilstein:506689" "Wikipedia:Valine" "NCIT:C7296" "MEDGEN:234813" @@ -109371,17 +109107,17 @@ "ICD10:D68.8" "PMID:37794183" "PMID:29875488" + "MEDGEN:21051" + "UMLS:C0039103" + "MedDRA:10042868" "MESH:D013585" + "HP:0100769" + "DOID:2703" "MeSH:D013585" - "NCIT:C50766" "MONDO:0002400" - "NCIt:C50766" - "UMLS:C0039103" - "DOID:2703" - "HP:0100769" - "MEDGEN:21051" - "MedDRA:10042868" + "NCIT:C50766" "SCTID:416209007" + "NCIt:C50766" "MEDGEN:277874" "DOID:2071" "UMLS:C1336982" @@ -109439,20 +109175,20 @@ "MedDRA:10064572" "OMIM:608156" "ICD10:Q93.5" + "PMID:29875488" "PMID:33634981" "OMIMPS:275200" - "PMID:29875488" + "PMID:29875488" "NCIt:C86544" "MeSH:D009166" "SNOMEDCT:58242002" - "PMID:29875488" + "RRID:CVCL_E823" "SNOMEDCT:27040004" "NCIt:C3006" "SNOMEDCT:50776006" "MeSH:D004681" "MONDO:0005134" "MESH:D004681" - "RRID:CVCL_E823" "NCIT:C9099" "UMLS:C0347096" "icd11.foundation:1626158287" @@ -109770,7 +109506,6 @@ "LIPID_MAPS_instance:LMGP01050082" "PMID:35347128" "PMID:35668104" - "Beilstein:5097016" "LIPID_MAPS_instance:LMST01030127" "PMID:14502988" "KNApSAcK:C00000199" @@ -109907,13 +109642,13 @@ "MedDRA:10039179" "UMLS:C0013364" "PMID:29875488" + "PMID:37164013" + "ICD10:Q87.2" "MeSH:C535718" "OMIM:223370" "UMLS:C0175691" "ICD10:Q87.1" "MedDRA:10059589" - "PMID:37164013" - "ICD10:Q87.2" "UMLS:C1518231" "MEDGEN:276545" "DOID:6212" @@ -110096,7 +109831,6 @@ "PMID:22336593" "MeSH:D000431" "KNApSAcK:C00019560" - "Beilstein:1718733" "SNOMEDCT:53041004" "Wikipedia:Ethanol" "PMID:22306018" @@ -110147,11 +109881,11 @@ "UMLS:C0347126" "MEDGEN:83854" "NCIT:C4594" - "OMIM:613162" - "ICD10:G11.4" "CLO:0003433" "RRID:CVCL_1220" "BTO:0001584" + "OMIM:613162" + "ICD10:G11.4" "MEDGEN:21056" "MedDRA:10070738" "SCTID:444150000" @@ -110307,6 +110041,8 @@ "SCTID:244798004" "MESH:D010609" "MA:0001797" + "OMIM:607364" + "ICD10:E26.8" "UMLS:C0344730" "NANDO:2200267" "Orphanet:99105" @@ -110315,8 +110051,6 @@ "MEDGEN:138011" "icd11.foundation:1930019148" "SCTID:95268002" - "OMIM:607364" - "ICD10:E26.8" "UMLS:C0085602" "SNOMEDCT_US:267026004" "SNOMEDCT_US:17173007" @@ -110340,11 +110074,11 @@ "PMID:35347128" "PMID:35347128" "NCIt:C117184" + "PMID:21177962" + "PMID:25262759" "OMIM:177650" "MEDGEN:864692" "UMLS:C4016255" - "PMID:21177962" - "PMID:25262759" "HMDB:0036583" "EV:0100089" "XAO:0000133" @@ -110439,7 +110173,6 @@ "PMID:19812358" "PMID:18815700" "PMID:16534979" - "Beilstein:3648446" "PMID:17420092" "PMID:18846414" "KEGG:D05963" @@ -110584,7 +110317,6 @@ "OMIM:618828" "MEDGEN:1719418" "UMLS:C5394218" - "PMID:35347128" "SNOMEDCT:89695009" "PMID:21438171" "PMID:14961139" @@ -110630,6 +110362,7 @@ "PMID:18331849" "PMID:11072877" "NCIt:C62082" + "PMID:35347128" "PMID:37794183" "ICD9:016.60" "MEDGEN:546959" @@ -110712,7 +110445,6 @@ "MEDGEN:355700" "OMIM:601744" "UMLS:C1866373" - "PMID:29875488" "BAMS:MES" "TAO:0000148" "EFO:0003432" @@ -110720,6 +110452,7 @@ "EMAPA:16140" "Wikipedia:Mesencephalon" "ZFA:0000148" + "PMID:29875488" "UMLS:C1519207" "DOID:5760" "MEDGEN:276789" @@ -110742,7 +110475,6 @@ "PMID:17190852" "UM-BBD_compID:c0312" "CAS:56-14-4" - "Beilstein:1863859" "Reaxys:1863859" "MetaCyc:SUC" "Gmelin:240255" @@ -110801,13 +110533,6 @@ "UMLS:C5848305" "MESH:D011164" "PMID:29875488" - "MEDGEN:3013" - "UMLS:C0008153" - "DOID:50358" - "MeSH:D002694" - "ICD10:A70" - "MESH:D002694" - "MONDO:0020776" "DOID:3361" "MEDGEN:272464" "NCIT:C6585" @@ -110820,16 +110545,6 @@ "MEDGEN:1824024" "UMLS:C5774251" "OMIM:620113" - "SCTID:235746007" - "SNOMEDCT:235746007" - "ICD9:558.9" - "NCIt:C27110" - "icd11.foundation:553916326" - "ICD10CM:K52.3" - "MONDO:0006038" - "MEDGEN:87418" - "NCIT:C27110" - "UMLS:C0341332" "MeSH:D005141" "ICD10:H03" "ICD10CM:H00" @@ -110846,6 +110561,23 @@ "MONDO:0003382" "DOID:530" "ICD10:H02" + "MEDGEN:3013" + "UMLS:C0008153" + "DOID:50358" + "MeSH:D002694" + "ICD10:A70" + "MESH:D002694" + "MONDO:0020776" + "SCTID:235746007" + "SNOMEDCT:235746007" + "ICD9:558.9" + "NCIt:C27110" + "icd11.foundation:553916326" + "ICD10CM:K52.3" + "MONDO:0006038" + "MEDGEN:87418" + "NCIT:C27110" + "UMLS:C0341332" "PMID:29875488" "SNOMEDCT:431293008" "ICD10:Q20.1" @@ -111117,15 +110849,15 @@ "SNOMEDCT: 274897005" "PMID:10718481" "PMID:10604729" + "MeSH:D003218" "ICD9:078.11" "NCIT:C4820" - "DOID:11168" "UMLS:C0554632" - "MONDO:0005647" - "MEDGEN:108217" - "MeSH:D003218" "SCTID:266113007" + "DOID:11168" "MESH:D003218" + "MEDGEN:108217" + "MONDO:0005647" "UMLS:C0347215" "ICD9:212.0" "SCTID:92241005" @@ -111168,8 +110900,8 @@ "OMIMPS:616263" "UMLS:C1333966" "MEDGEN:232274" - "DOID:8022" "NCIT:C5832" + "DOID:8022" "OMIM:613647" "ICD10:G11.4" "PMID:24816252" @@ -111319,6 +111051,13 @@ "MESH:C564019" "OMIM:190360" "PMID:37794183" + "NCIT:C175208" + "GARD:16735" + "Orphanet:85169" + "MEDGEN:335678" + "OMIM:606835" + "UMLS:C1847406" + "MESH:C564656" "ICD9:205.00" "ICD10:C92.00" "ICD9:205.0" @@ -111341,13 +111080,6 @@ "MONDO:0018874" "NCIT:C3171" "SCTID:91861009" - "NCIT:C175208" - "GARD:16735" - "Orphanet:85169" - "MEDGEN:335678" - "OMIM:606835" - "UMLS:C1847406" - "MESH:C564656" "DOID:0070550" "UMLS:C1833030" "Orphanet:496" @@ -111371,6 +111103,9 @@ "OMIM:228940" "ICD10:Q87.8" "PMID:29875488" + "UMLS:C1855467" + "OMIM:248110" + "ICD10:Q87.0" "UMLS:C0040156" "SCTID:90739004" "ICD9:242" @@ -111384,9 +111119,6 @@ "icd11.foundation:1470387017" "MONDO:0010138" "ICD9:242.80" - "UMLS:C1855467" - "OMIM:248110" - "ICD10:Q87.0" "OMIM:300960" "PMID:23823483" "NCIt:C34789" @@ -111536,8 +111268,8 @@ "MESH:D001941" "ICD9:611.8" "ICD10:N64" - "ICD10CM:N60-N65" "MONDO:0002657" + "ICD10CM:N60-N65" "Orphanet:314394" "UMLS:C3542022" "GARD:17419" @@ -111560,7 +111292,6 @@ "FMA:72554" "Reaxys:3589907" "CAS:143-20-4" - "Beilstein:3589907" "MetaCyc:PALMITATE" "HMDB:HMDB0000220" "Gmelin:344266" @@ -111737,7 +111468,6 @@ "NANDO:2200017" "NANDO:2200018" "MedDRA:10067399" - "OMIM:301008" "OMIM:149730" "ICD10:Q87.8" "UMLS:C0265269" @@ -111748,6 +111478,7 @@ "GARD:17586" "MEDGEN:863609" "PMID:29875488" + "OMIM:301008" "MAT:0000340" "EFO:0000831" "MA:0000316" @@ -111994,13 +111725,13 @@ "OMIM:612900" "OMIM:603513" "MedDRA:10074398" - "ICD10:Q79.6" - "OMIM:614557" "MEDGEN:859271" "DOID:0070325" "GTR:AN0102113" "NCIT:C118822" "UMLS:C3899677" + "ICD10:Q79.6" + "OMIM:614557" "CAS:9002-60-2" "KEGG:C02017" "KEGG:D00146" @@ -112129,7 +111860,6 @@ "PMID:2494044" "PMID:22770225" "Gmelin:82121" - "Beilstein:1751215" "PMID:10325611" "PMID:19212411" "SNOMEDCT:29238009" @@ -112178,7 +111908,6 @@ "LIPID_MAPS_instance:LMFA01050005" "PMID:17190852" "CAS:300-85-6" - "Beilstein:773861" "Reaxys:773861" "Wikipedia:3-hydroxybutyrate" "NCIT:C6784" @@ -113159,7 +112888,6 @@ "GARD:0009396" "Orphanet:401920" "Orphanet:93926" - "PMID:35347128" "UMLS:C0554472" "DOID:421" "ICD9:704.8" @@ -113168,6 +112896,7 @@ "ICD9:704.9" "MESH:D006201" "NCIT:C34656" + "PMID:35347128" "PMID:26115505" "PMID:26066674" "MetaCyc:CPD-396" @@ -113482,7 +113211,6 @@ "Patent:US4287208" "Drug_Central:4407" "KEGG:D07761" - "Beilstein:2788149" "NCIt:C80599" "KEGG:C10982" "PPDB:192" @@ -113570,21 +113298,8 @@ "MEDGEN:1794264" "UMLS:C5562054" "PMID:37794183" - "GARD:18339" - "OMIM:619172" - "UMLS:C5436936" - "MEDGEN:1727728" - "SCTID:254825007" - "MEDGEN:578420" - "DOID:2645" - "ICD9:215.9" - "NCIT:C3234" - "ICD10CM:C45" - "MESH:D008654" - "UMLS:C0348424" "PMID:11710540" "CAS:53-06-5" - "Beilstein:1356062" "PMID:8989250" "PMID:2268561" "PMID:24391193" @@ -113596,6 +113311,18 @@ "PMID:14874924" "Reaxys:1356062" "Wikipedia:Cortisone" + "GARD:18339" + "OMIM:619172" + "UMLS:C5436936" + "MEDGEN:1727728" + "SCTID:254825007" + "MEDGEN:578420" + "DOID:2645" + "ICD9:215.9" + "NCIT:C3234" + "ICD10CM:C45" + "MESH:D008654" + "UMLS:C0348424" "NCIT:C3357" "MEDGEN:48439" "UMLS:C0035358" @@ -113680,12 +113407,12 @@ "DOID:0060892" "GARD:17684" "MEDGEN:463618" + "PMID:35347128" "NCIT:C35775" "MEDGEN:124384" "UMLS:C0271100" "SCTID:68575007" "DOID:4353" - "PMID:35347128" "MEDGEN:37145" "MeSH:D016263" "NCIT:C26918" @@ -113758,7 +113485,6 @@ "DrugBank:DB03904" "Drug_Central:4264" "PMID:22770225" - "Beilstein:635724" "PMID:37164013" "OMIM:211170" "ICD10:Q87.8" @@ -114098,8 +113824,8 @@ "UMLS:C0034183" "MESH:D011702" "DOID:2744" - "NCIt:C34964" "MeSH:D011702" + "NCIt:C34964" "MedDRA:10037584" "SNOMEDCT:27174002" "Orphanet:183487" @@ -114217,7 +113943,6 @@ "KEGG:C15798" "LIPID_MAPS_instance:LMST01030124" "KNApSAcK:C00007277" - "Beilstein:7878139" "Reaxys:7878139" "MedDRA:10073269" "CLO:0008080" @@ -114226,21 +113951,20 @@ "PMID:35050183" "PMID:33634981" "UMLS:C0596070" - "PMID:22211106" - "CAS:71-50-1" - "NCIt:C94719" - "Wikipedia:Acetate" "PMID:22371380" - "Gmelin:1379" - "PDBeChem:ACT" - "PMID:17190852" - "KEGG:C00033" + "NCIt:C94719" "MetaCyc:ACET" - "DrugBank:DB03166" "UM-BBD_compID:c0050" - "Reaxys:1901470" "SNOMEDCT:54526002" - "Beilstein:1901470" + "PMID:17190852" + "PDBeChem:ACT" + "Reaxys:1901470" + "Gmelin:1379" + "KEGG:C00033" + "CAS:71-50-1" + "Wikipedia:Acetate" + "PMID:22211106" + "DrugBank:DB03166" "UMLS:C0240709" "OMIM:602639" "UMLS:C1865092" @@ -114387,7 +114111,6 @@ "PMID:15019957" "UM-BBD_compID:c0009" "KEGG:C06790" - "Beilstein:1736782" "SNOMEDCT:16808006" "PMID:10459493" "GARD:1998" @@ -114451,13 +114174,14 @@ "UMLS:C1332536" "NCIT:C7617" "DOID:0050622" - "PMID:35501403" "Orphanet:93335" "SCTID:715707008" "MEDGEN:357425" "UMLS:C1868120" "icd11.foundation:366939273" "GARD:16818" + "PMID:35501403" + "ICD10:Q93.5" "SCTID:700423003" "MONDO:0006047" "EFO:1000044" @@ -114466,7 +114190,6 @@ "NCIT:C8294" "UMLS:C0281361" "DOID:4074" - "ICD10:Q93.5" "MEDGEN:91158" "SCTID:277507004" "UMLS:C0349620" @@ -114639,6 +114362,7 @@ "UMLS:C0235812" "NCIt:C50587" "MedDRA:10054835" + "EV:0100391" "CALOHA:TS-0860" "ZFA:0005294" "GAID:434" @@ -114650,7 +114374,6 @@ "MA:0000371" "SCTID:28202009" "EMAPA:28407" - "EV:0100391" "ATC_code:G" "PMID:32641083" "NANDO:2201361" @@ -114702,15 +114425,13 @@ "CLO:0007640" "BTO:0001908" "PMID:24816252" + "PMID:24018204" "OMIM:121800" "UMLS:C0271287" "MeSH:C535475" "ICD10:H18.5" - "PMID:24018204" "VFB:FBbt_00005824" "FBbt:00005824" - "PMID:21177962" - "PMID:25262759" "MEDGEN:369590" "SCTID:720853005" "GARD:17045" @@ -114718,6 +114439,8 @@ "OMIM:611291" "MESH:C566970" "UMLS:C1969799" + "PMID:21177962" + "PMID:25262759" "UMLS:C3280677" "MEDGEN:482307" "OMIM:614395" @@ -114753,7 +114476,6 @@ "Gmelin:82894" "PMID:16664320" "PMID:15234337" - "Beilstein:1720524" "GARD:4139" "OMIM:259410" "MESH:C537558" @@ -114845,7 +114567,6 @@ "NCIt:C90306" "MeSH:D003513" "KNApSAcK:C00047211" - "Beilstein:88868" "PMID:26715760" "PMID:33101237" "LINCS:LSM-2791" @@ -114864,7 +114585,6 @@ "ICD10:G60.0" "DOID:0081072" "OMIMPS:213980" - "PMID:28240269" "CSP:0571-2717" "UMLS:C0334533" "MEDGEN:137780" @@ -114874,6 +114594,7 @@ "MESH:D001165" "DOID:11294" "NCIT:C2882" + "PMID:28240269" "GARD:784" "SCTID:720515009" "MEDGEN:350677" @@ -115213,8 +114934,8 @@ "UMLS:C5190802" "GARD:17433" "NCIt:C117189" - "MCC:0000426" "RRID:CVCL_0526" + "MCC:0000426" "CLO:0009043" "BTO:0002131" "CLO:0004291" @@ -115279,7 +115000,6 @@ "MEDGEN:41839" "ICD9:752.62" "UMLS:C0014588" - "PMID:35347128" "UMLS:C1868576" "MEDGEN:401473" "GARD:4176" @@ -115287,6 +115007,7 @@ "Orphanet:1179" "SCTID:763127004" "MESH:C566817" + "PMID:35347128" "GARD:10869" "UMLS:C1837388" "MEDGEN:233663" @@ -115326,11 +115047,11 @@ "SCTID:247604006" "UMLS:C0227578" "FMA:16011" - "PMID:29875488" "MEDGEN:412576" "UMLS:C2748542" "MONDO:0005449" "ICD10:I45" + "PMID:29875488" "OMIM:618885" "UMLS:C5394387" "MEDGEN:1709627" @@ -115448,6 +115169,10 @@ " CLO:0051387" "RRID:CVCL_0194" "PMID:35148957" + "UMLS:C4749580" + "MEDGEN:1659846" + "GARD:21083" + "Orphanet:280384" "MedDRA:10012432" "UMLS:C0234894" "NCIt:C35277" @@ -115458,18 +115183,12 @@ "MONDO:0006521" "MedDRA:10000520" "SNOMEDCT:402644006" - "UMLS:C4749580" - "MEDGEN:1659846" - "GARD:21083" - "Orphanet:280384" "MEDGEN:710723" "DOID:12168" "UMLS:C1288279" "ICD9:354.2" "SCTID:367475009" "UMLS:C1861866" - "OMIM:614588" - "ICD10:G24.1" "RRID:CVCL_RW39" "RRID:CVCL_0042" "CLO:0009454" @@ -115480,6 +115199,8 @@ "UMLS:C0154084" "MESH:D000071960" "DOID:8791" + "OMIM:614588" + "ICD10:G24.1" "AAO:0000733" "XAO:0000056" "EFO:0003475" @@ -115568,7 +115289,6 @@ "DOID:0081332" "PMID:34002480" "Wikipedia:Gluconeogenesis" - "MetaCyc:GLUCONEO-PWY" "MEDGEN:1684615" "GARD:8672" "NANDO:1200959" @@ -115785,11 +115505,11 @@ "Reactome:REACT_88847" "Reactome:REACT_97893" "PMID:29875488" - "NCIt:C94816" - "PMID:32766472" "OMIM:250951" "UMLS:C0574085" "ICD10:E71.1" + "NCIt:C94816" + "PMID:32766472" "UMLS:C0023531" "SCTID:274134003" "MESH:D007971" @@ -115811,6 +115531,7 @@ "XAO:0000132" "NCIt:C128976" "Orphanet:370106" + "PMID:27530334" "Orphanet:424019" "UMLS:C1332262" "GARD:21774" @@ -115818,7 +115539,6 @@ "DOID:7177" "MEDGEN:233979" "icd11.foundation:585238371" - "PMID:27530334" "OMIM:181800" "MEDGEN:438003" "UMLS:C2700406" @@ -116268,17 +115988,11 @@ "PMID:29875488" "ZFA:0000648" "PMID:35050183" + "SNOMEDCT_US:42341009" + "UMLS:C0001816" "MGI:2160001" "TGEMO:00042" "PMID:33634981" - "SNOMEDCT_US:42341009" - "UMLS:C0001816" - "UMLS:C4015184" - "MEDGEN:863621" - "Orphanet:445110" - "OMIM:616094" - "GARD:17769" - "DOID:0112381" "icd11.foundation:1005849639" "NCIT:C122789" "DOID:0050759" @@ -116291,6 +116005,12 @@ "GARD:9728" "Orphanet:606" "MEDGEN:419137" + "UMLS:C4015184" + "MEDGEN:863621" + "Orphanet:445110" + "OMIM:616094" + "GARD:17769" + "DOID:0112381" "PMID:33634981" "SCTID:84209002" "ICD10CM:F44.0" @@ -116734,8 +116454,8 @@ "MEDGEN:1632060" "icd11.foundation:1325415519" "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM25256&Product=CC" - "ICD10:N46" "PMID:28240269" + "ICD10:N46" "PMID:33634981" "FMA:75639" "EMAPA:17593" @@ -116980,8 +116700,8 @@ "UMLS:C0339124" "NCIT:C4360" "MEDGEN:83280" - "PMID:35347128" "PMID:36168886" + "PMID:35347128" "PMID:25493955" "PMID:37794183" "OMIM:618050" @@ -117097,11 +116817,11 @@ "MEDGEN:1708513" "UMLS:C5394391" "OMIM:618886" - "NCIt:C147356" "OMIM:180750" "UMLS:C0175699" "OMIM:101400" "ICD10:Q87.0" + "NCIt:C147356" "NCIt:C71988" "SNOMEDCT:28140004" "PMID:31375628" @@ -117650,7 +117370,6 @@ "Patent:US3019173" "Patent:US3301899" "PMID:12934399" - "Beilstein:2230417" "PMID:11550419" "PMID:18406588" "PMID:17251127" @@ -117929,7 +117648,6 @@ "PMID:15012185" "Gmelin:1918703" "PMID:9038855" - "Beilstein:86838" "PMID:19212411" "PMID:9022537" "UMLS:C3280120" @@ -118243,11 +117961,6 @@ "SCTID:725044000" "GARD:12395" "Orphanet:263494" - "MESH:D019292" - "MEDGEN:138208" - "UMLS:C0376527" - "NCIT:C4676" - "DOID:3842" "Orphanet:894" "NCIT:C75008" "ICD10CM:E70.3" @@ -118257,6 +117970,11 @@ "MEDGEN:376211" "UMLS:C1847800" "OMIM:193500" + "MESH:D019292" + "MEDGEN:138208" + "UMLS:C0376527" + "NCIT:C4676" + "DOID:3842" "UMLS:C1370506" "NCIT:C5794" "DOID:6015" @@ -118330,6 +118048,8 @@ "ICD10:G71" "ICD10:M62" "PMID:37794183" + "OMIM:609541" + "ICD10:G11.4" "PMID:35347128" "PMID:29875488" "PMID:29875488" @@ -118339,8 +118059,7 @@ "GARD:22575" "MEDGEN:934640" "OMIM:617188" - "OMIM:609541" - "ICD10:G11.4" + "PMID:24816252" "GARD:18017" "MEDGEN:1754121" "Orphanet:597733" @@ -118349,7 +118068,6 @@ "OMIM:619491" "MEDGEN:1794179" "UMLS:C5561969" - "PMID:24816252" "PMID:22232676" "PMID:29875488" "PMID:35264221" @@ -118434,8 +118152,8 @@ "NCIT:C8401" "MEDGEN:7187" "UMLS:C0022374" - "SCTID:126834003" "MESH:D007580" + "SCTID:126834003" "OMIM:193235" "PMID:37794183" "OMIM:613243" @@ -118522,17 +118240,17 @@ "SCTID:2231001" "MEDGEN:543047" "NCIt:C27744" - "GARD:15421" - "OMIM:607829" - "UMLS:C1843003" - "MESH:C564326" - "MEDGEN:335856" "MONDO:0006163" "UMLS:C3272809" "EFO:1000196" "ICDO:8213/3" "MEDGEN:474442" "NCIT:C96485" + "GARD:15421" + "OMIM:607829" + "UMLS:C1843003" + "MESH:C564326" + "MEDGEN:335856" "PMID:28240269" "PMID:29875488" "SNOMEDCT_US:71325002" @@ -118763,12 +118481,12 @@ "ICD10:E77.8" "OMIM:613489" "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG02884&Product=CC" - "PMID:35347128" "DOID:1886" "MESH:D018178" "MeSH:D018178" "SCTID:111865007" "MONDO:0005763" + "PMID:35347128" "MeSH:C536079" "OMIM:236680" "Wikipedia:Hydrolethalus_syndrome" @@ -119407,11 +119125,11 @@ "MONDO:0006523" "UMLS:C2750442" "OMIM:613280" + "ICD10:E78.6" "CAS:7763-65-7" "HMDB:HMDB0028889" "KEGG:C05010" "Reaxys:90769" - "ICD10:E78.6" "icd11.foundation:675690362" "MEDGEN:56290" "GARD:10504" @@ -119489,8 +119207,8 @@ "ICD10:Q82.4" "UMLS:C0406716" "OMIM:189500" - "Reaxys:3903948" "PMID:29875488" + "Reaxys:3903948" "MedDRA:10062766" "OMIM:248200" "OMIM:603786" @@ -119513,8 +119231,8 @@ "OMIM:236000" "UMLS:C0019829" "GARD:16529" - "PMID:10594010" "RRID:CVCL_XF44" + "PMID:10594010" "MONDO:0006833" "SNOMEDCT:75667007" "DOID:13196" @@ -119805,28 +119523,28 @@ "UMLS:C5679577" "OMIM:268020" "ICD10:Q87.8" - "icd11.foundation:830200631" - "SCTID:11806006" - "DOID:10685" - "UMLS:C1527281" + "MeSH:D001010" "Wikipedia:Separation_anxiety_disorder" - "MESH:D001010" + "MONDO:0001098" + "SCTID:11806006" "MedDRA:10040045" - "MeSH:D001010" - "UMLS:C0003477" - "NCIT:C35014" + "MESH:D001010" + "UMLS:C1527281" "NCIt:C35014" + "icd11.foundation:830200631" + "DOID:10685" + "UMLS:C0003477" "MEDGEN:1999" - "MONDO:0001098" + "NCIT:C35014" "MeSH:C536952" "OMIM:273050" "UMLS:C1848903" "UMLS:C2931509" "MeSH:C537496" + "PMID:37164013" "PMID:31430377" "Orphanet:2679" "GARD:2996" - "PMID:37164013" "DOID:6639" "NCIT:C6206" "UMLS:C1377604" @@ -119835,9 +119553,6 @@ "TGEMO:00030" "MGI:2162728" "PMID:24816252" - "UMLS:C1868390" - "OMIM:171480" - "ICD10:Q87.2" "PMID:17174578" "PMID:10651166" "Reaxys:1724426" @@ -119862,12 +119577,14 @@ "PMID:19580823" "HMDB:HMDB0001890" "SNOMEDCT:77731008" - "Beilstein:1724426" "PMID:20819793" "MetaCyc:CPD-9175" "PMID:15025780" "DrugBank:DB06151" "PMID:25553484" + "UMLS:C1868390" + "OMIM:171480" + "ICD10:Q87.2" "MESH:C563016" "MEDGEN:107807" "ICD10CM:L73.1" @@ -119911,8 +119628,8 @@ "EHDAA2:0002137" "UMLS:C0041916" "SCTID:276858000" - "EMAPA:18323" "MA:0001701" + "EMAPA:18323" "GAID:1313" "EHDAA:7016" "RETIRED_EHDAA2:0002138" @@ -119970,6 +119687,7 @@ "OMIM:180700" "MedDRA:10084325" "ICD10:Q87.1" + "ICD10:C69.2" "UMLS:C1253936" "MESH:D006833" "MEDGEN:222181" @@ -119977,7 +119695,6 @@ "ICD9:719.08" "SCTID:387637008" "ICD9:719.00" - "ICD10:C69.2" "PMID:29875488" "PMID:33634981" "MESH:D065817" @@ -120056,23 +119773,24 @@ "MEDGEN:1842835" "ICD10EXP:E85.4+" "GARD:17489" - "ICD10CM:L10" "MONDO:0006594" + "MESH:D010392" "ICD10:L10" - "UMLS:C0030807" "Wikipedia:Pemphigus" - "NANDO:1200228" - "MedDRA:10034280" - "NCIT:C34909" "NCIt:C34909" - "icd11.foundation:191659986" - "MEDGEN:45369" + "DOID:9182" "ICD9:694.4" + "UMLS:C0030807" + "NANDO:1200228" "GARD:7352" - "MESH:D010392" + "MedDRA:10034280" + "MEDGEN:45369" + "ICD10CM:L10" + "icd11.foundation:191659986" "MeSH:D010392" - "DOID:9182" + "NCIT:C34909" "SCTID:65172003" + "ICD10:Q98.8" "NCIt:C25552" "MeSH:D007854" "SNOMEDCT:88488004" @@ -120084,14 +119802,13 @@ "UMLS:C4708599" "GARD:16875" "SCTID:39302008" - "ICD10:Q98.8" "UMLS:C1334576" "NCIT:C5126" "MEDGEN:233659" "DOID:3843" - "PMID:34503513" "FBbt:00001056" "PMID:24954085" + "PMID:34503513" "PMID:21963238" "PMID:35347128" "EHDAA:8171" @@ -120102,8 +119819,8 @@ "UMLS:C0006270" "FMA:7410" "CALOHA:TS-2003" - "EMAPA:32697" "VHOG:0000675" + "EMAPA:32697" "MA:0000422" "EHDAA:8183" "NCIT:C12684" @@ -120194,7 +119911,6 @@ "KEGG:C01595" "CAS:1509-85-9" "Gmelin:667201" - "Beilstein:4139597" "Reaxys:4139597" "MetaCyc:LINOLEIC_ACID" "PMID:23823483" @@ -120290,6 +120006,7 @@ "PMID:33987332" "KEGG:C06767" "Beilstein:4648025" + "PMID:35347128" "GARD:12301" "NANDO:1200498" "Orphanet:614" @@ -120302,7 +120019,6 @@ "DOID:2106" "NANDO:1200497" "ICD9:359.22" - "PMID:35347128" "PMID:29875488" "PMID:24816252" "SCTID:238021002" @@ -120393,7 +120109,6 @@ "HP:0011815" "Gmelin:1789543" "Reaxys:6394065" - "Beilstein:6394065" "NCIt:C16342" "NCIT:C3360" "MESH:D012303" @@ -120414,6 +120129,7 @@ "NCIT:C36263" "MEDGEN:422475" "UMLS:C2939419" + "PMID:33441150" "MEDGEN:574622" "SCTID:197967000" "icd11.foundation:1032655599" @@ -120424,7 +120140,6 @@ "NCIT:C2961" "Orphanet:98616" "UMLS:C0009761" - "PMID:33441150" "UMLS:C3554078" "OMIM:614923" "GARD:17389" @@ -120524,6 +120239,15 @@ "BTO:0002025" "CLO:0051569" "RRID:CVCL_1288" + "SCTID:702312009" + "Orphanet:1412" + "UMLS:C1861305" + "ICD9:756.9" + "GARD:9225" + "OMIM:186570" + "MEDGEN:348322" + "icd11.foundation:1118132902" + "DOID:0050789" "PMID:36449553" "HMDB:HMDB0003404" "PMID:36547931" @@ -120545,15 +120269,6 @@ "PMID:34885715" "PMID:36315326" "Pesticides:chitosan" - "SCTID:702312009" - "Orphanet:1412" - "UMLS:C1861305" - "ICD9:756.9" - "GARD:9225" - "OMIM:186570" - "MEDGEN:348322" - "icd11.foundation:1118132902" - "DOID:0050789" "GC_ID:1" "Orphanet:2670" "OMIM:609049" @@ -120631,6 +120346,18 @@ "CLO:0008111" "ICD10:Q87.8" "OMIM:266910" + "MONDO:0000402" + "ICDO:8041/3" + "SCTID:11010461000119101" + "https://doi.org/10.1186/2162-3619-4-2" + "NCIT:C3915" + "NCIT:C4099" + "EFO:0008524" + "UMLS:C0334239" + "MEDGEN:90748" + "MESH:D018288" + "DOID:0050685" + "ICDO:8042/3" "UMLS:C0460002" "AAO:0000007" "EMAPA:16103" @@ -120659,18 +120386,6 @@ "Wikipedia:Organ_system" "FMA:7149" "EHDAA2:0003011" - "MONDO:0000402" - "ICDO:8041/3" - "SCTID:11010461000119101" - "https://doi.org/10.1186/2162-3619-4-2" - "NCIT:C3915" - "NCIT:C4099" - "EFO:0008524" - "UMLS:C0334239" - "MEDGEN:90748" - "MESH:D018288" - "DOID:0050685" - "ICDO:8042/3" "NORD:1377" "MedDRA:10048676" "icd11.foundation:418359090" @@ -120996,11 +120711,11 @@ "PMID:35347128" "OMIM:185020" "ICD10:D58.8" + "PMID:33491795" "NCIT:C40220" "MEDGEN:770966" "UMLS:C3642326" "DOID:4520" - "PMID:33491795" "PMID:37794183" "NCIT:C3607" "SCTID:92056006" @@ -121062,8 +120777,8 @@ "CiteXplore:10917400" "CiteXplore:10898926" "ChemIDplus:75272-39-8" - "PMID:9766869" "CiteXplore:9934942" + "PMID:9766869" "PMID:9310388" "PMID:10898926" "Wikipedia:Nemonapride" @@ -121168,7 +120883,6 @@ "CAS:83209-65-8" "PMID:18230731" "PMID:16839576" - "Beilstein:4729824" "Patent:EP2194061" "KEGG:C15676" "PMID:18074352" @@ -121326,7 +121040,6 @@ "DrugBank:DB01677" "PMID:22516248" "KNApSAcK:C00001183" - "Beilstein:605763" "Reaxys:605763" "Wikipedia:Fumaric_Acid" "UMLS:C0032044" @@ -121451,7 +121164,6 @@ "KEGG:C06861" "Wikipedia:Buspirone" "PMID:20825390" - "Beilstein:964904" "LINCS:LSM-4105" "Drug_Central:437" "Patent:US3717634" @@ -121577,7 +121289,6 @@ "DrugBank:DB01033" "PMID:28418010" "KEGG:D04931" - "Beilstein:132916" "CAS:50-44-2" "PMID:28212467" "PMID:28166217" @@ -121738,6 +121449,7 @@ "PMID:28240269" "PMID:37794183" "UMLS:C0151281" + "PMID:29875488" "SCTID:721878003" "MEDGEN:355268" "Orphanet:139471" @@ -121746,7 +121458,6 @@ "UMLS:C1864689" "DOID:0111805" "OMIM:607932" - "PMID:29875488" "NCIT:C94828" "GARD:19213" "MEDGEN:458929" @@ -121850,11 +121561,10 @@ "SNOMEDCT:411358009" "KEGG:C00903" "PMID:21469739" - "PMID:29079364" "PMID:17140783" + "PMID:29079364" "PMID:19845671" "PMID:21394803" - "Beilstein:1071571" "CAS:14371-10-9" "PMID:21603596" "PMID:21708228" @@ -121969,7 +121679,6 @@ "GARD:20243" "SNOMEDCT_US:66657009" "UMLS:C0030591" - "FBbt:00005554" "NCIt:C117219" "MCC:0000380" "BTO:0001061" @@ -121977,6 +121686,7 @@ "CLO:0008395" "https://www.atcc.org/products/all/CRL-1435.aspx" "SNOMEDCT:272976006" + "FBbt:00005554" "FBbt:00004784" "PMID:29875488" "MEDGEN:1843175" @@ -122075,11 +121785,10 @@ "Wikipedia:Ethambutol" "PMID:17562368" "PMID:17276683" - "Reaxys:6312870" - "Drug_Central:1073" "PMID:14698152" + "Drug_Central:1073" + "Reaxys:6312870" "PMID:12182855" - "Beilstein:6312870" "PMID:16005211" "KEGG:C06984" "PMID:17239593" @@ -122095,8 +121804,8 @@ "PMID:37794183" "UMLS:C0268576" "SNOMEDCT_US:24013007" - "Orphanet:399391" "FBbt:00001719" + "Orphanet:399391" "PMID:35347128" "PMID:23260138" "NCIT:C3157" @@ -122228,16 +121937,16 @@ "SCTID:718554005" "PMID:28240269" "PMID:28240269" - "ICD10:Q93.3" "UMLS:C5191419" "DOID:0080503" "MEDGEN:1683744" "OMIMPS:614080" + "ICD10:Q93.3" "ICD10:Q43.1" "NCIT:C34927" "DOID:11257" - "MESH:D000072861" "MEDGEN:19254" + "MESH:D000072861" "NCIt:C34927" "MONDO:0001247" "Wikipedia:Social_anxiety_disorder" @@ -122314,13 +122023,13 @@ "ICD10:Q87.0" "UMLS:C1836450" "UMLS:C1857953" + "OMIM:618270" + "OMIM:610805" "SNOMEDCT:7093002" "ICD10:N23" "NCIt:C78593" "MeSH:D056844" "MedDRA:10038419" - "OMIM:618270" - "OMIM:610805" "ICD10:C03" "MEDGEN:57549" "MONDO:0005507" @@ -122409,14 +122118,14 @@ "SNOMEDCT_US:90009001" "UMLS:C0266785" "NCIt:C97114" + "OMIM:614200" + "ICD10:D69.8" "DOID:3261" "OMIM:147060" "OMIM:615816" "MeSH:D007589" "NCIt:C3144" "SNOMEDCT:50926003" - "OMIM:614200" - "ICD10:D69.8" "ICD9:378.50" "MONDO:0001143" "ICD10:H49" @@ -122459,7 +122168,6 @@ "PMID:21492257" "KNApSAcK:C00002664" "PMID:21822930" - "Beilstein:969616" "KEGG:D06536" "SNOMEDCT_US:267036007" "SNOMEDCT_US:230145002" @@ -122627,13 +122335,13 @@ "DOID:12661" "SNOMEDCT:14901003" "MeSH:D020254" + "PubChem:16064" + "CAS:3422-31-9" "GARD:18150" "UMLS:C4748162" "MEDGEN:1648377" "DOID:0111644" "OMIM:618094" - "PubChem:16064" - "CAS:3422-31-9" "DOID:5042" "UMLS:C0334618" "NCIT:C4336" @@ -122805,9 +122513,9 @@ "NCIT:C12808" "ZFA:0000600" "VHOG:0000705" - "PMID:33634981" "Orphanet:458798" "OMIM:616410" + "PMID:33634981" "PMID:23823483" "Orphanet:294929" "OMIM:202900" @@ -122876,15 +122584,15 @@ "MEDGEN:685787" "OMIMPS:192500" "SCTID:442917000" - "NCIt:C35448" - "SNOMEDCT:45177002" - "MedDRA:10015967" "Orphanet:1000" "GARD:592" "OMIM:300650" "UMLS:C1845069" "MEDGEN:337149" "SCTID:722054007" + "NCIt:C35448" + "SNOMEDCT:45177002" + "MedDRA:10015967" "MONDO:0005972" "MESH:D011018" "SCTID:233607000" @@ -122961,7 +122669,6 @@ "PMID:24727172" "HMDB:HMDB0000210" "KEGG:C00864" - "Beilstein:1727062" "Wikipedia:Pantothenic_acid" "KEGG:D07413" "Reaxys:1727062" @@ -123119,7 +122826,6 @@ "UMLS:C1837352" "Orphanet:238505" "NANDO:2200735" - "PMID:35347128" "NANDO:1200235" "NANDO:2201375" "DOID:4644" @@ -123135,6 +122841,7 @@ "ICD10CM:Q81.0" "NANDO:2201341" "UMLS:C0079298" + "PMID:35347128" "MESH:D007107" "UMLS:C0020962" "NCIT:C12735" @@ -123160,8 +122867,8 @@ "EMAPA:18428" "CALOHA:TS-0018" "FMA:15633" - "NCIT:C12397" "AAO:0011010" + "NCIT:C12397" "SCTID:362585001" "MA:0000119" "Wikipedia:Adrenal_medulla" @@ -123289,6 +122996,7 @@ "MedDRA:10017183" "PMID:26068415" "NCIt:C122123" + "UMLS:C0346185" "MEDGEN:83414" "NCIT:C8106" "EFO:1000414" @@ -123297,7 +123005,6 @@ "DOID:5511" "SCTID:254874008" "icd11.foundation:208782658" - "UMLS:C0346185" "MEDGEN:481798" "DOID:0070147" "UMLS:C3280168" @@ -123440,8 +123147,8 @@ "MeSH:D016715" "MedDRA:10074067" "PMID:26241739" - "Orphanet:294049" "PMID:35347128" + "Orphanet:294049" "OMIM:609945" "MESH:C537100" "UMLS:C1864965" @@ -123466,13 +123173,11 @@ "LIPID_MAPS_instance:LMST04010001" "PMID:22770225" "Drug_Central:3096" - "Beilstein:2822009" "PDBeChem:CHD" "CAS:81-25-4" "Wikipedia:Cholic_Acid" "DrugBank:DB02659" "Reaxys:3588415" - "Beilstein:3588415" "Gmelin:49853" "SNOMEDCT:52017007" "Wikipedia:Antiemetic" @@ -123526,9 +123231,9 @@ "MedDRA:10059483" "NCIt:C111649" "PMID:24816252" - "UMLS:C4073241" - "PMID:28240269" "PMID:35347128" + "PMID:28240269" + "UMLS:C4073241" "UMLS:C3536893" "NCIT:C27291" "MEDGEN:760735" @@ -123674,8 +123379,8 @@ "OMIM:149000" "MedDRA:10051452" "ICD10:Q87.2" - "NCIT:C9018" "PMID:29875488" + "NCIT:C9018" "BTO:0003913" "CLO:0007730" "RRID:CVCL_0429" @@ -123967,6 +123672,7 @@ "https://en.wikipedia.org/wiki/Lateral_ventricles" "UMLS:C0340643" "SNOMEDCT_US:308546005" + "Reactome:R-HSA-9909466" "EC:6.4.1.4" "KEGG_REACTION:R04138" "Reactome:R-HSA-70773" @@ -123977,7 +123683,6 @@ "PMID:29875488" "UMLS:C0887941" "PMID:22827565" - "Beilstein:2047161" "KEGG:C02180" "Reaxys:2047161" "PMID:12119069" @@ -124004,7 +123709,6 @@ "MeSH:D013739" "Beilstein:3653705" "PMID:10438974" - "Beilstein:1915399" "CAS:58-22-0" "icd11.foundation:2069435755" "MESH:C537727" @@ -124016,16 +123720,16 @@ "UMLS:C1849554" "SCTID:45142002" "GARD:9900" - "ICDO:8450/0" - "MEDGEN:41386" - "MESH:D018292" - "UMLS:C0010636" - "NCIT:C2974" "UMLS:C4280613" "SNOMEDCT_US:707598004" "UMLS:C0024636" "UMLS:C4280614" "SNOMEDCT_US:47944004" + "ICDO:8450/0" + "MEDGEN:41386" + "MESH:D018292" + "UMLS:C0010636" + "NCIT:C2974" "DOID:13575" "MEDGEN:845321" "ICD9:252.02" @@ -124074,6 +123778,16 @@ "PMID:37794183" "UMLS:C0028949" "SNOMEDCT_US:52073004" + "SCTID:709282004" + "MESH:C538246" + "OMIM:609924" + "Orphanet:137754" + "MEDGEN:324393" + "UMLS:C1835922" + "GARD:9741" + "MeSH:C538246" + "MONDO:0012368" + "ICD9:270.8" "NCIT:C12933" "EMAPA:32740" "BTO:0006196" @@ -124089,16 +123803,6 @@ "galen:Vertebra" "ZFA:0001189" "MA:0000309" - "SCTID:709282004" - "MESH:C538246" - "OMIM:609924" - "Orphanet:137754" - "MEDGEN:324393" - "UMLS:C1835922" - "GARD:9741" - "MeSH:C538246" - "MONDO:0012368" - "ICD9:270.8" "OMIM:116700" "UMLS:C3805373" "DOID:0110242" @@ -124222,13 +123926,13 @@ "MEDGEN:1786310" "MO:675" "PMID:35347128" - "PMID:29875488" "Orphanet:3341" "MESH:C536970" "GARD:5230" "MEDGEN:326819" "UMLS:C1839129" "OMIM:314300" + "PMID:29875488" "ZFS:0000048" "Wikipedia:Zebrafish" "OMIMPS:600721" @@ -124304,7 +124008,6 @@ "MONDO:0006153" "RRID:CVCL_0400" "CLO:0007445" - "NCIt:C92647" "GARD:17685" "NANDO:2201235" "Orphanet:411634" @@ -124317,6 +124020,7 @@ "MEDGEN:75701" "UMLS:C0268626" "icd11.foundation:422905632" + "NCIt:C92647" "PMID:36168886" "MEDGEN:42278" "UMLS:C0018078" @@ -124358,7 +124062,6 @@ "NCIT:C27725" "NCIt:C16643" "PMID:27020755" - "Beilstein:492056" "Reaxys:492056" "CAS:3737-09-5" "Patent:US3225054" @@ -124377,13 +124080,13 @@ "SCTID:763276000" "MEDGEN:1641655" "RRID:CVCL_DR61" - "PMID:29875488" "DOID:0070244" "UMLS:C5568562" "OMIM:616276" "Orphanet:457185" "GARD:17796" "MEDGEN:1799985" + "PMID:29875488" "GAZ:00004525" "PMID:37794183" "UMLS:C1849134" @@ -124402,8 +124105,8 @@ "PMID:35347128" "PMID:35995766" "PMID:35347128" - "PMID:23823483" "RGD:1359002" + "PMID:23823483" "MEDGEN:350942" "OMIM:603622" "DOID:0110548" @@ -124457,11 +124160,11 @@ "NANDO:1200519" "Chemspider:113376658" "LIPID_MAPS_instance:LMGP03020093" - "PMID:29875488" "UMLS:C1332193" "DOID:6018" "MEDGEN:231036" "NCIT:C27401" + "PMID:29875488" "RRID:CVCL_9631" "CLO:0022856" "PO:0004006" @@ -124685,8 +124388,6 @@ "MEDGEN:929763" "Orphanet:64542" "UMLS:C4304094" - "OMIM:614851" - "ICD10:Q87.1" "UMLS:C1864947" "MESH:C566492" "GARD:16695" @@ -124718,6 +124419,8 @@ "MONDO:0021559" "SCTID:61261009" "PMID:29875488" + "OMIM:614851" + "ICD10:Q87.1" "MEDGEN:899946" "OMIM:182250" "UMLS:C4225427" @@ -124728,7 +124431,6 @@ "Orphanet:158124" "GARD:20028" "Orphanet:98620" - "Beilstein:741891" "DrugBank:DB04343" "HMDB:HMDB0000119" "CAS:298-12-4" @@ -124802,10 +124504,10 @@ "OMIM:618853" "DOID:0080963" "UMLS:C5394289" + "PMID:29875488" "BTO:0000670" "RRID:CVCL_0374" "CLO:0007093" - "PMID:29875488" "NCIt:C51998" "MeSH:D001026" "UMLS:C1835813" @@ -125024,14 +124726,16 @@ "NCIt:C12474" "PMID:29875488" "Orphanet:422" - "UMLS:C3180937" - "OMIM:615656" - "ICD10:Q93.5" "UMLS:C0265101" "ICD9:433.10" "SCTID:266254007" "MEDGEN:539079" "DOID:807" + "UMLS:C3180937" + "OMIM:615656" + "ICD10:Q93.5" + "PMID: 26629530" + "RRID:CVCL_IS01" "UMLS:C0040435" "SCTID:234947003" "ICD10:K08" @@ -125042,8 +124746,6 @@ "MEDGEN:11852" "DOID:1091" "NCIT:C35077" - "PMID: 26629530" - "RRID:CVCL_IS01" "Orphanet:400018" "OMIM:186580" "OMIM:609464" @@ -125071,7 +124773,6 @@ "OMIM:609053" "KEGG:C05463" "Reaxys:3919126" - "Beilstein:3919126" "NCIT:C70635" "MEDGEN:230813" "UMLS:C1318520" @@ -125180,8 +124881,8 @@ "MESH:D000075942" "LIPID_MAPS_instance:LMGL02010056" "HMDB:HMDB0007219" - "WBls:0000014" "PMID:35995766" + "WBls:0000014" "PMID:37794183" "PMID:37794183" "PMID:37794183" @@ -125305,7 +125006,6 @@ "PMID:23841789" "KEGG:D04117" "PMID:11033063" - "Beilstein:1366759" "PMID:23181601" "OMIM:312840" "UMLS:C1839320" @@ -125433,6 +125133,7 @@ "MEDGEN:332304" "ZFA:0001123" "MeSH:D012738" + "Wikipedia:Sex_hormone-binding_globulin" "NCIt:C17128" "MESH:D007969" "DOID:13088" @@ -125641,8 +125342,8 @@ "MeSH:C536194" "ICD10:Q79.6" "NCIT:C9019" - "FMA:59790" "UMLS:C0030580" + "FMA:59790" "NCIT:C12427" "EFO:0002558" "EV:0100060" @@ -125925,9 +125626,9 @@ "OMIMPS:614937" "SCTID:763770005" "Orphanet:319189" + "PMID:34503513" "OMIM:613287" "ICD10:G60.0" - "PMID:34503513" "PMID:35347128" "MP:0003644" "SNOMEDCT_US:444717006" @@ -126119,14 +125820,14 @@ "ICD9:443.21" "SCTID:720626009" "OMIM:268130" - "NCIt:C1967" - "Wikipedia:Tyrosine-kinase_inhibitor" - "PMID:33634981" "OMIM:148050" "ICD10:Q87.8" "UMLS:C0220687" "MeSH:C537015" "MedDRA:10084411" + "NCIt:C1967" + "Wikipedia:Tyrosine-kinase_inhibitor" + "PMID:33634981" "MedDRA:10041552" "MeSH:D013119" "MedGen:893651" @@ -126209,9 +125910,9 @@ "MEDGEN:21887" "UMLS:C0042929" "SCTID:9078005" - "NCIT:C3440" "MONDO:0021420" "MedDRA:10047675" + "NCIT:C3440" "NANDO:2100204" "SCTID:234532001" "MEDGEN:7034" @@ -126469,10 +126170,6 @@ "MEDGEN:113161" "UMLS:C0221289" "NCIT:C3829" - "MEDGEN:1804672" - "OMIM:619935" - "UMLS:C5677009" - "SNOMEDCT:17370001" "MedDRA:10068801" "UMLS:C2609059" "MEDGEN:388567" @@ -126487,13 +126184,17 @@ "GARD:735" "NORD:1926" "icd11.foundation:1572057936" + "MEDGEN:1804672" + "OMIM:619935" + "UMLS:C5677009" + "SNOMEDCT:17370001" "PMID:35347128" + "PMID:23823483" "GARD:20856" "MEDGEN:1841544" "UMLS:C5816684" "Orphanet:262682" "RGD:1578695" - "PMID:23823483" "MEDGEN:65960" "UMLS:C0238352" "NCIT:C7730" @@ -126514,11 +126215,11 @@ "GARD:17253" "PubChem:28115" "CAS:5466678" - "PMID:37794183" "UMLS:C1332954" "DOID:6654" "NCIT:C27405" "MEDGEN:232344" + "PMID:37794183" "KEGG:D08229" "Patent:EP1886997" "DrugBank:DB00471" @@ -126539,11 +126240,11 @@ "PMID:34610981" "PMID:35888748" "PMID:30134952" - "PMID:29875488" "MEDGEN:754440" "UMLS:C2939445" "SCTID:92557009" "DOID:0050614" + "PMID:29875488" "DOID:11266" "MedDRA:10075020" "MeSH:D006480" @@ -126726,8 +126427,8 @@ "PMID:28240269" "RRID:CVCL_1701" "CLO:0009054" - "PMID:29875488" "PMID:29875488" + "PMID:29875488" "ICD10:Q44.7" "OMIM:118450" "MEDGEN:1684767" @@ -127126,6 +126827,10 @@ "OMIM:617666" "OMIM:617667" "OMIM:219000" + "UMLS:C0796182" + "OMIM:603671" + "MeSH:C535657" + "ICD10:Q75.8" "SCTID:440422002" "NCIT:C7149" "MONDO:0005235" @@ -127151,10 +126856,6 @@ "ZFA:0000538" "EMAPA:18010" "Wikipedia:Rib" - "UMLS:C0796182" - "OMIM:603671" - "MeSH:C535657" - "ICD10:Q75.8" "ICD9:078.89" "NCIT:C128418" "MESH:D007835" @@ -127239,7 +126940,6 @@ "SNOMEDCT:372706001" "PMID:10796547" "MeSH:D013881" - "Beilstein:94457" "CAS:50-52-2" "LINCS:LSM-1863" "PMID:27023487" @@ -127303,6 +127003,8 @@ "galen:MedullaOfKidney" "BTO:0001167" "CALOHA:TS-1157" + "MedDRA:10065011" + "MeSH:D016459" "PMID:26331820" "Reaxys:3549663" "KEGG:C14762" @@ -127312,8 +127014,6 @@ "PMID:16997127" "CAS:29623-28-7" "KNApSAcK:C00000403" - "MedDRA:10065011" - "MeSH:D016459" "PMID:31554410" "PMID:28240269" "PMID:37794183" @@ -127369,14 +127069,14 @@ "ICD9:562.01" "UMLS:C0267502" "DOID:11223" - "PMID:29875488" "NCIT:C40305" "MEDGEN:384495" "UMLS:C2202743" "DOID:6339" + "PMID:29875488" "PMID:28240269" - "PMID:32321835" "NCIt:C147359" + "PMID:32321835" "NCIT:C90598" "GARD:2152" "NANDO:2201342" @@ -127422,6 +127122,17 @@ "MESH:D018297" "PMID:37794183" "PMID:30217807" + "SCTID:27052006" + "MEDGEN:6186" + "ICD9:084.1" + "NCIT:C34800" + "MeSH:D016780" + "MESH:D016780" + "DOID:12978" + "ICD10:B51" + "MONDO:0005921" + "ICD10CM:B51" + "UMLS:C0024537" "UMLS:C0279687" "NCIT:C7986" "DOID:6037" @@ -127435,17 +127146,6 @@ "Orphanet:293621" "OMIM:300779" "MESH:C567587" - "SCTID:27052006" - "MEDGEN:6186" - "ICD9:084.1" - "NCIT:C34800" - "MeSH:D016780" - "MESH:D016780" - "DOID:12978" - "ICD10:B51" - "MONDO:0005921" - "ICD10CM:B51" - "UMLS:C0024537" "UMLS:C5679589" "GARD:20172" "Orphanet:180068" @@ -127793,19 +127493,19 @@ "icd11.foundation:240424885" "SCTID:720862007" "MO:384" + "MeSH:D005541" + "MedDRA:10016984" + "NCIt:C120933" "MESH:D002299" "FMA:14561" "SCTID:362138004" "GAID:319" "NCIT:C12256" "EMAPA:35811" - "Wikipedia:Cardia" "BTO:0000198" + "Wikipedia:Cardia" "UMLS:C0007144" "MA:0001609" - "MeSH:D005541" - "MedDRA:10016984" - "NCIt:C120933" "DOID:6755" "NCIT:C8323" "ICD9:714.32" @@ -127862,6 +127562,7 @@ "ICD9:171.7" "ICD9:171.3" "MEDGEN:224714" + "ICD9:357.3" "NCIt:C3981" "MESH:D020364" "DOID:8681" @@ -127872,7 +127573,6 @@ "NCIT:C3981" "SCTID:77659000" "MONDO:0006888" - "ICD9:357.3" "PMID:37794183" "NCIT:C26998" "MONDO:0006525" @@ -128153,6 +127853,12 @@ "ZFA:0000040" "OMIM:267760" "PMID:29875488" + "OMIM:127000" + "UMLS:C0265291" + "MeSH:C537020" + "OMIM:244460" + "ICD10:Q87.1" + "MedDRA:10073228" "ZFA:0000360" "ICD10CM:I40.0" "icd11.foundation:900037931" @@ -128162,12 +127868,6 @@ "MEDGEN:730492" "UMLS:C1384588" "ICD9:422.92" - "OMIM:127000" - "UMLS:C0265291" - "MeSH:C537020" - "OMIM:244460" - "ICD10:Q87.1" - "MedDRA:10073228" "PMID:29875488" "MEDGEN:1779119" "OMIM:301060" @@ -128355,7 +128055,6 @@ "PMID:21310893" "CiteXplore:21310893" "CiteXplore:22353356" - "Beilstein:3565084" "CiteXplore:18271925" "LINCS:LSM-2132" "MEDGEN:934684" @@ -128432,12 +128131,12 @@ "PMID:31367044" "MESH:D011387" "NCIt:C22729" - "UMLS:C2931364" - "MeSH:C536898" "MEDGEN:904751" "OMIM:616278" "DOID:0111066" "UMLS:C4225390" + "UMLS:C2931364" + "MeSH:C536898" "PMID:29875488" "DOID:10627" "MEDGEN:509897" @@ -128453,6 +128152,7 @@ "icd11.foundation:592246939" "GARD:20142" "PMID:35347128" + "PMID:24816252" "EHDAA2_RETIRED:0003154" "EFO:0000807" "SCTID:361692004" @@ -128478,7 +128178,6 @@ "XAO:0000176" "MESH:D034582" "MIAA:0000033" - "PMID:24816252" "Wikipedia:Color_blindness" "Orphanet:319691" "SNOMEDCT:51445007" @@ -128492,7 +128191,6 @@ "ICD10CM:H53.54" "KNApSAcK:C00001343" "PMID:1101962" - "Beilstein:80678" "Reaxys:80678" "PMID:5041194" "Beilstein:3648544" @@ -128586,12 +128284,12 @@ "SCTID:726358004" "Orphanet:262687" "ICD10:Q93.5" + "PMID:28240269" "SCTID:363451005" "MEDGEN:509337" "UMLS:C0153599" "DOID:11839" "ICD9:187.2" - "PMID:28240269" "CAS:627-77-0" "PMID:18989563" "PMID:16082501" @@ -128604,7 +128302,6 @@ "PMID:11113071" "PMID:18437289" "PMID:16708633" - "Beilstein:1725417" "PMID:17513438" "PMID:11696417" "Wikipedia:Citrulline" @@ -128899,7 +128596,6 @@ "KEGG:C03242" "PMID:9668087" "HMDB:HMDB0002925" - "Beilstein:1913514" "DrugBank:DB00154" "LIPID_MAPS_instance:LMFA01030158" "PDBeChem:LAX" @@ -129021,6 +128717,7 @@ "UMLS:C1860596" "MeSH:C536472" "OMIM:191520" + "ICD10:G23.1" "GARD:5683" "ICD9:759.89" "NANDO:2200979" @@ -129046,7 +128743,6 @@ "HP:0030411" "UMLS:C4072935" "MEDGEN:893029" - "ICD10:G23.1" "SNOMEDCT_US:165468009" "UMLS:C0151632" "PMID:37794183" @@ -129194,7 +128890,6 @@ "PMID:30557628" "PMID:9353337" "FooDB:FDB022594" - "Beilstein:6780476" "KNApSAcK:C00007541" "PMID:16278291" "PMID:32278008" @@ -129427,7 +129122,6 @@ "Wikipedia:Isocitric_acid" "HMDB:HMDB0000193" "KNApSAcK:C00001188" - "Beilstein:1727945" "YMDB:YMDB00026" "icd11.foundation:1210063722" "Orphanet:98762" @@ -129446,15 +129140,15 @@ "icd11.foundation:1982772708" "PMID:29875488" "Orphanet:3050" + "NCIt:C76204" + "SNOMEDCT:57522007" + "MeSH:D001439" "UMLS:C2168304" "MONDO:0003372" "EFO:1001975" "MEDGEN:378348" "NCIT:C40318" "DOID:5286" - "NCIt:C76204" - "SNOMEDCT:57522007" - "MeSH:D001439" "UMLS:C4020887" "UMLS:C0085636" "SNOMEDCT_US:246622003" @@ -129515,7 +129209,6 @@ "Wikipedia:Uridine" "PDBeChem:URI" "PMID:17190852" - "Beilstein:754904" "KEGG:C00299" "CAS:58-96-8" "PMID:22770225" @@ -129576,8 +129269,8 @@ "ICD9:370.9" "ICD10CM:H16" "SCTID:5888003" - "PMID:37794183" "Orphanet:566243" + "PMID:37794183" "Orphanet:93395" "MESH:C537094" "icd11.foundation:94436217" @@ -129649,11 +129342,11 @@ "OMIM:615935" "UMLS:C4014737" "PMID:35347128" - "PMID:29875488" "BTO:0003440" "RRID:CVCL_0221" "CLO:0002548" "PMID:37794183" + "PMID:29875488" "OMIM:614870" "OMIM:614866" "OMIM:614859" @@ -129951,7 +129644,6 @@ "PMID:22215378" "PMID:21854850" "PMID:22006570" - "Beilstein:3587721" "PMID:21823181" "PMID:22458763" "PMID:22311625" @@ -130025,7 +129717,6 @@ "KEGG:D00472" "Wikipedia:Prednisolone" "PMID:24392764" - "Beilstein:1354103" "Reaxys:1354103" "PMID:23625982" "PMID:11294518" @@ -130050,12 +129741,12 @@ "SNOMEDCT_US:237266003" "OMIM:612289" "ICD10:E34.8" + "OMIM:600195" + "ICD10:Q27.8" "MEDGEN:1841007" "UMLS:C5830371" "OMIM:620296" "UMLS:C1866731" - "OMIM:600195" - "ICD10:Q27.8" "MeSH:D016870" "DOID:50370" "Wikipedia:DNA_methylation" @@ -130117,15 +129808,17 @@ "SCTID:399340005" "MeSH:D009394" "ICD10:Q87.8" - "ATCC:CRL-5876" "MEDGEN:419092" "GARD:4369" "MESH:C537402" "UMLS:C2931485" "Orphanet:3353" "PMID:37253714" + "ATCC:CRL-5876" "ICD10:Q87.2" "OMIMPS:156850" + "OMIM:310440" + "ICD10:G71.8" "PMID:29514873" "UMLS:C0152264" "NANDO:2100187" @@ -130135,8 +129828,6 @@ "NANDO:2200644" "DOID:10780" "ICD9:289.6" - "OMIM:310440" - "ICD10:G71.8" "UMLS:C0347206" "MEDGEN:83857" "SCTID:255154009" @@ -130357,7 +130048,6 @@ "MeSH:C535969" "OMIM:120400" "UMLS:C1852752" - "ICD10:Q87.8" "Orphanet:63446" "GARD:10605" "MESH:C564334" @@ -130373,6 +130063,7 @@ "MEDGEN:234158" "EFO:1000188" "MP:0004016" + "ICD10:Q87.8" "UMLS:C3808991" "MEDGEN:815321" "OMIMPS:615273" @@ -130877,11 +130568,11 @@ "GARD:17078" "Orphanet:178145" "PMID:36168886" - "PMID:24816252" "UMLS:C5543176" "MEDGEN:1782861" "OMIM:619224" "GARD:16438" + "PMID:24816252" "PMID:28775256" "MEDGEN:21801" "DOID:13223" @@ -130905,19 +130596,19 @@ "DOID:0110318" "MEDGEN:393755" "OMIM:612124" - "SCTID:430478003" "Orphanet:158061" - "SNOMEDCT:430478003" - "MEDGEN:242753" - "ORDO:Orphanet_158061" - "MedDRA:10053867" - "NCIt:C114471" - "NCIT:C114471" + "SCTID:430478003" + "GARD:12124" "MONDO:0015545" "MeSH:D055501" - "GARD:12124" + "SNOMEDCT:430478003" "UMLS:C1096155" + "NCIt:C114471" + "MEDGEN:242753" + "ORDO:Orphanet_158061" "MESH:D055501" + "NCIT:C114471" + "MedDRA:10053867" "NCIT:C131688" "SCTID:359729006" "UMLS:C1282974" @@ -131022,8 +130713,8 @@ "GARD:17188" "SCTID:33982008" "PMID:35888748" - "UMLS:C4024736" "PMID:31530798" + "UMLS:C4024736" "PMID:29875488" "MeSH:C538152" "ICD10:Q87.8" @@ -131071,9 +130762,9 @@ "EFO:0000326" "MEDGEN:87593" "NANDO:2100007" - "PMID:29317604" "ICD10:D68.5" "OMIM:613118" + "PMID:29317604" "OMIM:615274" "OMIM:605728" "OMIM:601547" @@ -131479,9 +131170,9 @@ "SNOMEDCT:36012007" "SNOMEDCT:257970008" "WebElements:N" - "OMIMPS:301108" "OMIM:611863" "ICD10:Q15.8" + "OMIMPS:301108" "NCIt:C12803" "MeSH:D014129" "MO:858" @@ -131890,11 +131581,6 @@ "UMLS:C4072834" "SNOMEDCT_US:48610005" "UMLS:C0277959" - "MONDO:0006092" - "UMLS:C1332329" - "NCIT:C5512" - "EFO:1000093" - "MEDGEN:233993" "ICD9:658.0" "MedDRA:10030293" "MESH:D016104" @@ -131917,6 +131603,11 @@ "MEDGEN:57791" "SCTID:371973000" "MESH:D014594" + "MONDO:0006092" + "UMLS:C1332329" + "NCIT:C5512" + "EFO:1000093" + "MEDGEN:233993" "SNOMEDCT:258801007" "NCIt:C64572" "MEDGEN:1375726" @@ -131942,7 +131633,6 @@ "SNOMEDCT:16915004" "PMID:12613763" "Patent:US2005271747" - "Beilstein:2060675" "Patent:US2008085882" "PMID:23662406" "HMDB:HMDB0014572" @@ -132432,6 +132122,7 @@ "UMLS:C0220616" "MEDGEN:65074" "NCIT:C6434" + "PMID:35347128" "OMIMPS:135300" "GARD:16582" "icd11.foundation:1911315646" @@ -132440,7 +132131,6 @@ "MEDGEN:140775" "DOID:0060466" "UMLS:C0399440" - "PMID:35347128" "PMID:33634981" "Orphanet:90635" "UMLS:C5779548" @@ -132530,6 +132220,7 @@ "icd11.foundation:1466487054" "UMLS:C0079588" "NANDO:1200625" + "EHDAA:5978" "EHDAA:5035" "EHDAA:5043" "TAO:0005277" @@ -132548,7 +132239,6 @@ "MA:0003148" "EHDAA:5984" "MAT:0000302" - "EHDAA:5978" "MAT:0000279" "BTO:0001078" "FMA:63934" @@ -132732,6 +132422,7 @@ "OMIM:601455" "RRID:CVCL_8253" "BTO:0003552" + "NCIt:C61023" "OMIM:616280" "SCTID:765046002" "UMLS:C4084821" @@ -132739,7 +132430,6 @@ "Orphanet:397735" "GARD:17638" "MEDGEN:906504" - "NCIt:C61023" "GARD:19697" "Orphanet:99887" "PMID:37794183" @@ -132987,12 +132677,12 @@ "NCIT:C5061" "UMLS:C1519826" "MEDGEN:275549" - "ZFS:0000008" "OMIM:601885" "OMIM:604307" "OMIM:115700" "ICD10:Q12.0" "OMIM:601547" + "ZFS:0000008" "HMDB:0015436" "MedDRA:10073182" "UMLS:C0431904" @@ -133127,13 +132817,6 @@ "PMID:29875488" "PMID:33634981" "MO:449" - "NCIT:C4730" - "ICD9:610.8" - "SCTID:450697004" - "MONDO:0006098" - "NCIt:C4730" - "MEDGEN:277968" - "UMLS:C1368920" "NCIT:C34809" "MEDGEN:44313" "SCTID:88348008" @@ -133143,6 +132826,13 @@ "MeSH:D015523" "MedDRA:10056475" "DOID:2051" + "NCIT:C4730" + "ICD9:610.8" + "SCTID:450697004" + "MONDO:0006098" + "NCIt:C4730" + "MEDGEN:277968" + "UMLS:C1368920" "CALOHA:TS-1096" "SCTID:57789003" "UMLS:C0227598" @@ -133167,7 +132857,6 @@ "HMDB:HMDB0015052" "PMID:19485831" "PMID:11906111" - "Beilstein:611683" "LINCS:LSM-5628" "PMID:14702395" "PMID:15739364" @@ -133322,7 +133011,6 @@ "MEDGEN:1806836" "icd11.foundation:1944845279" "PMID:29875488" - "PMID:35347128" "UMLS:C1333481" "NCIT:C35871" "MEDGEN:272598" @@ -133336,6 +133024,7 @@ "UMLS:C4748357" "DOID:0070382" "OMIM:618143" + "PMID:35347128" "OMIM:606232" "ICD10:Q93.5" "PMID:35347128" @@ -133376,17 +133065,6 @@ "MESH:D007636" "NCIT:C3146" "ICDO:8071/1" - "PMID:33357513" - "GARD:21522" - "UMLS:C4707306" - "Orphanet:352587" - "MEDGEN:1640999" - "ICD9:447.8" - "Orphanet:315" - "GARD:1722" - "MEDGEN:1845700" - "UMLS:C5848050" - "SCTID:239062001" "MedDRA:10029117" "MESH:D009393" "ICD9:583.7" @@ -133401,6 +133079,17 @@ "ICD10:N05" "ICD9:583.89" "ICD10:N12" + "PMID:33357513" + "GARD:21522" + "UMLS:C4707306" + "Orphanet:352587" + "MEDGEN:1640999" + "ICD9:447.8" + "Orphanet:315" + "GARD:1722" + "MEDGEN:1845700" + "UMLS:C5848050" + "SCTID:239062001" "GARD:17101" "UMLS:C1970211" "MEDGEN:369682" @@ -133492,15 +133181,15 @@ "ICD10:E76.2" "OMIM:601492" "ZFA:0001263" - "DOID:8211" - "MEDGEN:273292" - "UMLS:C1517111" - "NCIT:C40114" - "PMID:24816252" "CLO:0001296" " CLO:0001296" "RRID:CVCL_0118" "BTO:0002882" + "PMID:24816252" + "DOID:8211" + "MEDGEN:273292" + "UMLS:C1517111" + "NCIT:C40114" "OMIM:615162" "UMLS:C3554609" "MEDGEN:767523" @@ -133753,7 +133442,6 @@ "PMID:18936828" "Drug_Central:2001" "PMID:19884755" - "Beilstein:8003908" "HMDB:HMDB0014343" "DrugBank:DB00198" "PMID:19355841" @@ -134056,10 +133744,10 @@ "WebElements:Ca" "NCIt:C331" "PMID:33634981" + "PMID:29875488" "NCIt:C85545" "MeSH:D009163" "SNOMEDCT:27142009" - "Beilstein:1680023" "PMID:17750169" "PMID:10817668" "Wikipedia:1,4-Dichlorobenzene" @@ -134071,7 +133759,6 @@ "CAS:106-46-7" "PMID:23899931" "UM-BBD_compID:c0593" - "PMID:29875488" "PMID:29875488" "ICD10:Q87.8" "UMLS:C0265249" @@ -134126,7 +133813,6 @@ "HMDB:HMDB0000056" "MetaCyc:B-ALANINE" "PMID:12887142" - "Beilstein:906793" "PMID:18528519" "PMID:20199122" "PMID:12107759" @@ -134283,7 +133969,6 @@ "Beilstein:4676153" "PMID:10453988" "DrugBank:DB03203" - "Beilstein:1727294" "PDBeChem:SQS" "Reaxys:1727294" "LIPID_MAPS_instance:LMSP01010001" @@ -134329,11 +134014,11 @@ "RRID:CVCL_4056" "BTO:0002864" "CLO:0050113" + "UMLS:C0393541" + "ICD10:G12.1" "doi:10.1101/2021.11.19.21266436" "SNOMEDCT:80146002" "NCIT:C51687" - "UMLS:C0393541" - "ICD10:G12.1" "MeSH:D009855" "ICD9:125.3" "MESH:D009855" @@ -134351,10 +134036,8 @@ "SCTID:38539003" "RHEA:65612" "MetaCyc:STEROID-21-MONOOXYGENASE-RXN" - "Reactome:R-HSA-193981" "Reactome:R-HSA-5601976" "EC:1.14.14.16" - "Reactome:R-HSA-193964" "MEDGEN:87374" "UMLS:C0338484" "NCIT:C117009" @@ -134410,6 +134093,7 @@ "HMDB:HMDB0001349" "CAS:7782-49-2" "PMID:28240269" + "PMID:28240269" "MESH:C565553" "SCTID:1156813002" "DOID:0112250" @@ -134418,7 +134102,6 @@ "GARD:12504" "UMLS:C1856476" "MEDGEN:341563" - "PMID:28240269" "PMID:24816252" "PMID:28240269" "SCTID:49526009" @@ -134502,7 +134185,6 @@ "Orphanet:391411" "GARD:17621" "MEDGEN:1380105" - "PMID:35347128" "NCIT:C53555" "MEDGEN:770986" "DOID:0080674" @@ -134521,11 +134203,8 @@ "EHDAA:6653" "TAO:0000588" "EHDAA2:0002196" + "PMID:35347128" "PMID:33634981" - "MEDGEN:275296" - "DOID:2153" - "UMLS:C1518746" - "NCIT:C40443" "UMLS:C3495490" "icd11.foundation:1948375645" "MEDGEN:501193" @@ -134535,6 +134214,10 @@ "OMIM:102520" "DOID:0060347" "MESH:C563159" + "MEDGEN:275296" + "DOID:2153" + "UMLS:C1518746" + "NCIT:C40443" "GAZ:00004474" "UMLS:C2749007" "GARD:15266" @@ -134662,7 +134345,6 @@ "OMIM:261680" "ICD10:E74.4" "PMID:37794183" - "NCIt:C120650" "OMIM:616281" "DOID:0070542" "NORD:91168" @@ -134670,6 +134352,7 @@ "UMLS:C4225388" "GARD:17853" "Orphanet:477673" + "NCIt:C120650" "PMID:37794183" "PMID:20601959" "PMID:37794183" @@ -135009,7 +134692,6 @@ "LIPID_MAPS_instance:LMFA01170041" "KEGG:C00383" "PDBeChem:MLA" - "Beilstein:1751370" "Reaxys:1751370" "KNApSAcK:C00001193" "CAS:141-82-2" @@ -135072,15 +134754,15 @@ "PMID:35347128" "NCIt:C114551" "UMLS:C1860493" - "UMLS:C0001622" + "HP:0003118" "MeSH:D000308" - "MEDGEN:7899" "MESH:D000308" - "SCTID:275437005" "MONDO:0006640" + "SCTID:275437005" "DOID:3947" "ICD9:255.3" - "HP:0003118" + "UMLS:C0001622" + "MEDGEN:7899" "UMLS:C1336888" "NCIT:C6171" "MEDGEN:237035" @@ -135112,9 +134794,9 @@ "UMLS:C5436788" "OMIM:619092" "MEDGEN:1764121" + "PMID:30053915" "ZFA:0001217" "PMID:37794183" - "PMID:30053915" "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03139&Product=CC" "PMID:28798132" "MEDGEN:757711" @@ -136083,11 +135765,11 @@ "MEDGEN:3588" "OMIM:153630" "UMLS:C0009677" - "ICD10:Q93.5" "PMID:36210801" "MEDGEN:220902" "OMIMPS:209880" "UMLS:C1275808" + "ICD10:Q93.5" "ICD10:Q87.2" "DOID:3327" "ICD9:780.39" @@ -136163,7 +135845,6 @@ "SNOMEDCT:421324002" "SNOMEDCT:311741002" "PDBeChem:CUL" - "Beilstein:8128168" "NCIt:C61692" "PMID:9730919" "Reaxys:8128168" @@ -136299,7 +135980,6 @@ "PMID:26610844" "PMID:27528800" "Wikipedia:Tafenoquine" - "PMID:23503052" "NCIT:C45716" "Wikipedia:NUT_midline_carcinoma" "UMLS:CN237663" @@ -136312,6 +135992,7 @@ "ICD10:C80.9" "MEDGEN:312999" "MONDO:0005563" + "PMID:23503052" "DOID:8535" "MedDRA:10030865" "MESH:D006563" @@ -136319,8 +136000,8 @@ "MONDO:0005883" "MeSH:D006563" "UMLS:C0019364" - "MEDGEN:9236" "ICD9:053.29" + "MEDGEN:9236" "GARD:18266" "DOID:0111204" "OMIM:600794" @@ -136455,9 +136136,6 @@ "OMIM:619189" "MEDGEN:1788485" "UMLS:C5543068" - "BTO:0001884" - "CLO:0007735" - "RRID:CVCL_0436" "MESH:C536122" "Orphanet:215" "SCTID:193687000" @@ -136476,8 +136154,11 @@ "ICD9:078.89" "DOID:3944" "MeSH:D001117" - "SCTID:3303004" "MONDO:0005650" + "SCTID:3303004" + "BTO:0001884" + "CLO:0007735" + "RRID:CVCL_0436" "PMID:33634981" "PMID:28738859" "UMLS:C4310656" @@ -137115,23 +136796,22 @@ "MESH:C565167" "MEDGEN:482272" "UMLS:C3280642" - "Beilstein:622318" - "CAS:23593-75-1" - "KEGG:C06922" - "Reaxys:622318" - "HMDB:HMDB0001922" + "Drug_Central:719" + "SNOMEDCT:5797005" "DrugBank:DB00257" + "KEGG:C06922" + "Wikipedia:Clotrimazole" "PMID:24892421" - "SNOMEDCT:387325003" - "SNOMEDCT:5797005" - "Drug_Central:719" + "PDBeChem:CL6" "PMID:18728240" - "Wikipedia:Clotrimazole" - "LINCS:LSM-5341" "MeSH:D003022" "NCIt:C381" - "PDBeChem:CL6" "KEGG:D00282" + "LINCS:LSM-5341" + "Reaxys:622318" + "HMDB:HMDB0001922" + "CAS:23593-75-1" + "SNOMEDCT:387325003" "MEDGEN:869" "MedDRA:10027134" "ICD10CM:H00.1" @@ -137306,11 +136986,11 @@ "OMIM:616005" "DOID:0111949" "UMLS:C4014934" - "UMLS:C4025355" "UMLS:C0265289" "OMIM:156500" "MeSH:C537352" "ICD10:Q78.5" + "UMLS:C4025355" "PMID:37794183" "GARD:4954" "OMIM:608029" @@ -137346,7 +137026,6 @@ "ZFA:0005039" "PMID:20010439" "PMID:23615686" - "Beilstein:1632828" "PMID:22728040" "PMID:5800426" "Wikipedia:Cytochalasin_D" @@ -137387,7 +137066,6 @@ "KEGG:C11042" "PMID:24365113" "Wikipedia:Hexachlorobenzene" - "Beilstein:1912585" "HMDB:HMDB0032566" "PMID:23336922" "PMID:23923419" @@ -137607,7 +137285,6 @@ "HMDB:HMDB0000195" "MetaCyc:INOSINE" "KEGG:C00294" - "Beilstein:624889" "PDBeChem:NOS" "ICD10:Q87.1" "UMLS:C1849929" @@ -137627,8 +137304,8 @@ "OMIM:612576" "MEDGEN:390813" "MESH:C567245" - "NCIt:C147365" "PMID:37794183" + "NCIt:C147365" "UMLS:C4021664" "OMIM:614809" "MedDRA:10083794" @@ -137658,6 +137335,11 @@ "NCIt:C84633" "UMLS:C0008489" "PMID:28240269" + "MEDGEN:412163" + "GARD:21742" + "Orphanet:418951" + "UMLS:C2188058" + "NCIT:C27422" "MeSH:D002305" "ICD9:423.3" "MONDO:0001297" @@ -137673,11 +137355,6 @@ "ICD10CM:I31.4" "ICD10:I31.4" "MedDRA:10007610" - "MEDGEN:412163" - "GARD:21742" - "Orphanet:418951" - "UMLS:C2188058" - "NCIT:C27422" "NCIT:C2976" "SCTID:190681003" "GARD:6236" @@ -137907,6 +137584,9 @@ "Orphanet:98983" "MESH:C538285" "UMLS:C1861833" + "UMLS:C0268364" + "OMIM:248770" + "ICD10:Q87.8" "icd11.foundation:2020736035" "DOID:0050977" "SCTID:715824008" @@ -137916,9 +137596,6 @@ "UMLS:C1853249" "GARD:9951" "MESH:C537205" - "UMLS:C0268364" - "OMIM:248770" - "ICD10:Q87.8" "MedDRA:10002216" "SCTID:35001004" "PMID:28240269" @@ -138007,7 +137684,6 @@ "ICD10:G09" "NCIT:C2934" "SCTID:23853001" - "Beilstein:608603" "HMDB:HMDB0000034" "PDBeChem:ADE" "KEGG:C00147" @@ -138089,10 +137765,10 @@ "ICDO:9596/3" "DOID:5820" "MESH:D058617" - "MedDRA:10083870" "SNOMEDCT_US:90708001" "UMLS:C0022658" "UMLS:C1408258" + "MedDRA:10083870" "PMID:29875488" "FMA:14582" "galen:WallOfStomach" @@ -138131,7 +137807,6 @@ "PMID:19921623" "PMID:15683742" "PMID:17582711" - "Beilstein:1246090" "PMID:16245817" "PMID:17027750" "HMDB:HMDB0014704" @@ -138267,7 +137942,6 @@ "PMID:16406213" "Wikipedia:Quinoline" "PMID:8070089" - "Beilstein:107477" "HMDB:HMDB0033731" "Reaxys:107477" "Gmelin:27201" @@ -138355,17 +138029,16 @@ "OMIM:617044" "GARD:17894" "PMID:35347128" - "PMID:23823483" "OMIM:620439" "Orphanet:652487" "MEDGEN:1841248" "UMLS:C5830612" + "PMID:23823483" "OMIM:614371" "UMLS:C3280582" "MEDGEN:482212" "Orphanet:268752" "GARD:20960" - "Beilstein:6504377" "DrugBank:DB08711" "KEGG:C06672" "Reaxys:6504377" @@ -138551,8 +138224,8 @@ "SCTID:368009" "MedDRA:10061406" "MEDGEN:5463" - "ICD9:424.99" "ICD10:I08" + "ICD9:424.99" "DOID:4079" "MeSH:D006349" "icd11.foundation:1604214898" @@ -139083,7 +138756,6 @@ "Gmelin:449" "CAS:67-56-1" "PMID:11489599" - "Beilstein:1098229" "Reaxys:1098229" "HMDB:HMDB0001875" "PMID:11141607" @@ -140068,13 +139740,6 @@ "OMIM:618929" "MEDGEN:1718475" "UMLS:C5394523" - "MEDGEN:102372" - "UMLS:C0162291" - "DOID:12510" - "ICD9:362.84" - "SCTID:26468004" - "ICD10CM:H35.82" - "PMID:28240269" "MESH:D010899" "Orphanet:95613" "SNOMEDCT:237701005" @@ -140090,6 +139755,13 @@ "UMLS:C0032001" "icd11.foundation:1938573221" "NCIt:C26853" + "MEDGEN:102372" + "UMLS:C0162291" + "DOID:12510" + "ICD9:362.84" + "SCTID:26468004" + "ICD10CM:H35.82" + "PMID:28240269" "UMLS:C0041178" "CALOHA:TS-1070" "Wikipedia:Trophoblast" @@ -140150,7 +139822,6 @@ "SCTID:361370006" "UMLS:C0448188" "EFO:0003842" - "PMID:29875488" "MEDGEN:68625" "MeSH:D006551" "Orphanet:2140" @@ -140176,6 +139847,7 @@ "UMLS:C1567435" "UMLS:C0022680" "ZFA:0005093" + "PMID:29875488" "PMID:28928442" "RRID:CVCL_8136" "PMID:29875488" @@ -140269,12 +139941,12 @@ "MeSH:C538135" "ICD10:Q87.8" "OMIM:301815" + "MONDO:0005621" + "MESH:D020214" "Orphanet:231242" "MEDGEN:526128" "UMLS:C0221020" "GARD:20608" - "MONDO:0005621" - "MESH:D020214" "OMIMPS:277400" "GARD:3579" "Orphanet:26" @@ -140454,6 +140126,8 @@ "SCTID:312428002" "UMLS:C0729777" "MEDGEN:152673" + "OMIM:271150" + "ICD10:G12.1" "NCIt:C66884" "PMID:37794183" "OMIM:601071" @@ -140461,8 +140135,6 @@ "DOID:0110535" "UMLS:C1832828" "MEDGEN:331376" - "OMIM:271150" - "ICD10:G12.1" "MEDGEN:45817" "MeSH:D010524" "NCIT:C3321" @@ -140572,7 +140244,6 @@ "NCIT:C98902" "MEDGEN:87489" "SCTID:83799000" - "OMIM:600002" "icd11.foundation:1695088249" "MEDGEN:929430" "SCTID:720950009" @@ -140584,6 +140255,7 @@ "SNOMEDCT:258682000" "NCIt:C48155" "PMID:37794183" + "OMIM:600002" "LIPID_MAPS_instance:LMSP03010001" "Reaxys:3641774" "HMDB:HMDB0001348" @@ -140593,9 +140265,9 @@ "UMLS:C0034050" "ICD10:E29.1" "PMID:29875488" + "ICD10:G60.0" "SNOMEDCT:307650006" "MedDRA:10068785" - "ICD10:G60.0" "MONDO:0006102" "UMLS:C1704216" "MEDGEN:316439" @@ -140651,7 +140323,6 @@ "PMID:29875488" "SNOMEDCT_US:80825009" "UMLS:C0265783" - "ICD10:N04.3" "DOID:11285" "SCTID:74225001" "MedDRA:10077336" @@ -140670,6 +140341,7 @@ "PMID:24186868" "KEGG:C00338" "PMID:24506665" + "ICD10:N04.3" "DOID:217" "ICD9:521.01" "MEDGEN:540214" @@ -140708,8 +140380,8 @@ "MEDGEN:343120" "UMLS:C1854442" "DOID:0090023" - "RRID:CVCL_0359" "BTO:0001671" + "RRID:CVCL_0359" "CLO:0007006" "PMID:37794183" "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03457&Product=CC" @@ -141047,7 +140719,6 @@ "Gmelin:564641" "PMID:23529340" "CAS:70-34-8" - "Beilstein:398632" "PMID:15801672" "PMID:23474456" "PMID:15696100" @@ -141141,6 +140812,11 @@ "UMLS:C2930954" "PMID:35347128" "PMID:35347128" + "UMLS:C4014557" + "OMIM:615883" + "GARD:16026" + "DOID:0080686" + "MEDGEN:862994" "UMLS:C0003864" "MONDO:0005578" "DOID:848" @@ -141154,11 +140830,6 @@ "NCIt:C2883" "Wikipedia:Arthritis" "MeSH:D001168" - "UMLS:C4014557" - "OMIM:615883" - "GARD:16026" - "DOID:0080686" - "MEDGEN:862994" "PMID:29875488" "PMID:2474544" "NCIT:C27682" @@ -141264,18 +140935,17 @@ "Wikipedia:Lonidamine" "HMDB:HMDB0254158" "Patent:DE2310031" - "Wikipedia:Guanine" "KNApSAcK:C00001501" - "HMDB:HMDB0000132" - "Gmelin:431879" - "Beilstein:147911" - "KEGG:C00242" - "DrugBank:DB02377" + "Reaxys:147911" "PDBeChem:GUN" - "PMID:22770225" + "KEGG:C00242" "CAS:73-40-5" + "Gmelin:431879" + "DrugBank:DB02377" + "Wikipedia:Guanine" "PMID:8070089" - "Reaxys:147911" + "PMID:22770225" + "HMDB:HMDB0000132" "MetaCyc:GUANINE" "PMID:23898164" "PMID:35347128" @@ -141344,7 +141014,6 @@ "Wikipedia:Succinimide" "Drug_Central:4723" "PMID:22969621" - "Beilstein:108440" "KEGG:C07273" "CAS:123-56-8" "PMID:32646356" @@ -141451,7 +141120,6 @@ "UM-BBD_compID:c0104" "Gmelin:326508" "PMID:35585492" - "Beilstein:3589159" "MetaCyc:4-hydroxybenzoate" "PMID:37794183" "CMO:0000369" @@ -141504,6 +141172,7 @@ "UMLS:C2936741" "MeSH:D007713" "ICD10:Q98.8" + "ICD10:D82.8" "UMLS:C1370889" "EFO:0000736" "ICDO:8851/3" @@ -141514,7 +141183,6 @@ "NCIT:C4250" "ONCOTREE:WDLS" "GARD:19721" - "ICD10:D82.8" "ZFA:0001321" "OMIM:620186" "MEDGEN:1824056" @@ -141629,7 +141297,6 @@ "KEGG:C06820" "PMID:20195673" "PMID:25630642" - "Beilstein:5915117" "DrugBank:DB00479" "PMID:9327246" "PMID:17365906" @@ -141654,10 +141321,10 @@ "UMLS:C3694279" "GARD:22321" "DOID:0080642" - "OMIM:251880" "PMID:29875488" "PMID:35347128" "PMID:31367044" + "OMIM:251880" "PMID:29875488" "Orphanet:1068" "MEDGEN:419752" @@ -141733,13 +141400,13 @@ "MEDGEN:98047" "SCTID:240063002" "NCIT:C126691" - "PMID:29875488" "PMID:31530798" "MEDGEN:349821" "icd11.foundation:1224987332" "UMLS:C1860446" "GARD:21218" "Orphanet:295203" + "PMID:29875488" "UMLS:C0334540" "ICDO:9142/0" "DOID:470" @@ -142081,7 +141748,6 @@ "KEGG:D07591" "Wikipedia:Bupropion" "Reaxys:2101062" - "Beilstein:2101062" "MetaCyc:CPD-3481" "CAS:34911-55-2" "PMID:37794183" @@ -142282,9 +141948,9 @@ "UMLS:C2676271" "OMIM:612422" "MEDGEN:382807" - "PMID:28928442" "RRID:CVCL_0299" "BTO:0005964" + "PMID:28928442" "PMID:29875488" "ZFA:0005168" "NCIT:C32281" @@ -142329,6 +141995,10 @@ "Orphanet:98571" "OMIM:612319" "ICD10:G11.4" + "UMLS:C1863704" + "OMIM:603563" + "MeSH:C536867" + "ICD10:G11.4" "MESH:C563409" "MEDGEN:351513" "OMIM:600996" @@ -142338,10 +142008,6 @@ "ICD10CM:I47.2" "OMIM:604772" "DOID:0060675" - "UMLS:C1863704" - "OMIM:603563" - "MeSH:C536867" - "ICD10:G11.4" "Orphanet:86820" "MESH:D005271" "icd11.foundation:1216860745" @@ -142371,7 +142037,6 @@ "Gmelin:464711" "PMID:6017775" "Reaxys:7795" - "Beilstein:7795" "PMID:22770225" "PMID:6333900" "CAS:30581-88-5" @@ -142478,7 +142143,6 @@ "PMID:10843196" "PDBeChem:EST" "PMID:8567793" - "Beilstein:1914275" "PMID:16313478" "HMDB:HMDB0000151" "Gmelin:290805" @@ -142542,6 +142206,7 @@ "PMID:29875488" "PMID:28240269" "PMID:33634981" + "ICD10:G11.4" "PMID:28240269" "UMLS:C1857682" "Orphanet:254925" @@ -142556,7 +142221,6 @@ "MEDGEN:1801322" "GARD:13168" "Orphanet:454887" - "ICD10:G11.4" "Orphanet:206707" "GARD:21857" "MONDO:0018628" @@ -142836,6 +142500,7 @@ "PMID:37794183" "NCIt:C29862" "SNOMEDCT:415178003" + "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03460&Product=CC" "BTO:0001585" "RRID:CVCL_0360" "SNOMEDCT:705586008" @@ -142844,10 +142509,7 @@ "SNOMEDCT:46053002" "NCIt:C25237" "MAT:0000486" - "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03460&Product=CC" - "MetaCyc:3.4.14.9-RXN" "MetaCyc:3.4.14.10-RXN" - "EC:3.4.14.9" "EC:3.4.14.10" "SCTID:41364008" "MEDGEN:18653" @@ -143048,17 +142710,17 @@ "KEGG:C10443" "PMID:10923784" "PMID:21466422" - "PMID:37794183" - "DOID:0081398" - "MEDGEN:1684550" - "UMLS:C5193131" - "OMIM:618500" "Orphanet:3239" "UMLS:C1857339" "MEDGEN:347427" "GARD:1705" "OMIM:221350" "MESH:C565642" + "PMID:37794183" + "DOID:0081398" + "MEDGEN:1684550" + "UMLS:C5193131" + "OMIM:618500" "NCIT:C35781" "DOID:6522" "MEDGEN:235330" @@ -143132,9 +142794,9 @@ "EFO:1000263" "PMID:35347128" "PMID:37794183" + "PMID:37794183" "LIPID_MAPS_instance:LMGP01010496" "HMDB:HMDB0007874" - "PMID:37794183" "PMID:37794183" "MmusDv:0000002" "PMID:35050183" @@ -143446,7 +143108,6 @@ "PMID:10915053" "Beilstein:4190247" "PMID:16169217" - "Beilstein:2130328" "KNApSAcK:C00000134" "HMDB:HMDB0035140" "CAS:21293-29-8" @@ -143478,8 +143139,8 @@ "OMIM:601001" "ICD10:Q81.0" "Wikipedia:Epididymis" - "FMA:18255" "MAT:0000130" + "FMA:18255" "BTO:0000408" "galen:Epididymis" "SCTID:181432000" @@ -143581,9 +143242,9 @@ "EFO:0002424" "DOID:0050871" "MEDGEN:42016" - "PMID:35347128" "NCIt:C17634" "SNOMEDCT:63476009" + "PMID:35347128" "PMID:29875488" "PMID:28679651" "SNOMEDCT:34886002" @@ -143974,18 +143635,18 @@ "GARD:17573" "NANDO:1200556" "Orphanet:363722" - "NCIT:C34886" "UMLS:C0456498" "MeSH:D010034" - "ICD9:381.29" - "ICD9:381.20" - "MedDRA:10081113" "ICD10:H65" - "DOID:11179" - "MONDO:0005892" - "MESH:D010034" "SCTID:78868004" "MEDGEN:629314" + "ICD9:381.29" + "MESH:D010034" + "MedDRA:10081113" + "NCIT:C34886" + "MONDO:0005892" + "DOID:11179" + "ICD9:381.20" "Orphanet:314485" "MEDGEN:1667915" "GARD:17421" @@ -144040,7 +143701,6 @@ "Wikipedia:Abdominal_aorta" "BTO:0002976" "Reaxys:4383181" - "Beilstein:4383181" "GARD:3957" "Orphanet:35069" "DOID:0110735" @@ -144095,7 +143755,6 @@ "Wikipedia:Alpha-amanitin" "KNApSAcK:C00001516" "PMID:19556115" - "Beilstein:1071138" "Reaxys:1071138" "KEGG:C08438" "MeSH:D053959" @@ -144330,9 +143989,8 @@ "SCTID:422833009" "UMLS:C0279751" "NCIT:C8026" - "PMID:35347128" - "PMID:24816252" "PMID:28240269" + "PMID:24816252" "UMLS:C4025279" "UMLS:C0935626" "AEO:0000094" @@ -144362,6 +144020,7 @@ "Orphanet:90114" "UMLS:C5680178" "MEDGEN:1826161" + "PMID:35347128" "PMID:23733158" "PMID:22770225" "MetaCyc:CHOLINE" @@ -144377,7 +144036,6 @@ "PMID:18786517" "PMID:18204095" "PMID:9517478" - "Beilstein:1736748" "PMID:23637565" "HMDB:HMDB0000097" "ECMDB:ECMDB00097" @@ -144572,10 +144230,10 @@ "NANDO:2200501" "Orphanet:25" "DOID:0111254" - "PMID:29875488" "UMLS:C1839783" "UMLS:C4280583" "UMLS:C4280584" + "PMID:29875488" "KEGG COMPOUND:C00666" "HMDB:0001370" "OMIM:612292" @@ -144676,7 +144334,6 @@ "Fyler:2704" "PMID:34610981" "PMID:22143764" - "Beilstein:4133558" "Reaxys:4133558" "MetaCyc:MAL" "KEGG:C00149" @@ -144728,10 +144385,10 @@ "MEDGEN:21550" "NCIT:C129724" "MeSH:D013969" + "ICD10:Q92.3" "OMIM:617695" "ICD10:Q04.3" "OMIM:618266" - "ICD10:Q92.3" "OMIM:614527" "ICD10:Q93.5" "OMIM:613444" @@ -144754,7 +144411,6 @@ "icd11.foundation:326368380" "NANDO:2200608" "PMID:29875488" - "Beilstein:5740554" "Reaxys:5740554" "MEDGEN:1382553" "Orphanet:527497" @@ -144923,9 +144579,11 @@ "PMID:3466682" "RRID:CVCL_Y019" "MeSH:D055118" + "PMID:29207912" "OMIM:170390" "ICD10:G72.3" - "PMID:29207912" + "UMLS:C0700078" + "SNOMEDCT_US:405946002" "SCTID:723440000" "OMIM:300539" "DOID:0112121" @@ -144935,8 +144593,6 @@ "Orphanet:93606" "icd11.foundation:808905140" "GARD:10306" - "UMLS:C0700078" - "SNOMEDCT_US:405946002" "UMLS:C0005697" "MedlinePlus:MTHU037120" "MeSH:D001750" @@ -145399,14 +145055,14 @@ "MEDGEN:1826053" "UMLS:C5679787" "Orphanet:207085" - "UMLS:C0343108" - "ICD10:Q87.8" - "MeSH:C537066" - "OMIM:136300" " CLO:0050508" "BTO:0000298" "CLO:0002597" "RRID:CVCL_0224" + "UMLS:C0343108" + "ICD10:Q87.8" + "MeSH:C537066" + "OMIM:136300" "ICD10:A87" "NCIT:C118298" "ICD9:047.9" @@ -145767,10 +145423,10 @@ "UMLS:C0205711" "SNOMEDCT_US:64855000" "PMID:29875488" + "PMID:29875488" "SNOMEDCT:258674000" "NCIt:C48510" "MO:421" - "PMID:29875488" "SNOMEDCT_US:262016004" "UMLS:C0240379" "UMLS:C1334619" @@ -145784,12 +145440,12 @@ "MeSH:D023921" "NCIt:C80427" "SNOMEDCT:251030009" - "SNOMEDCT:60649002" - "MeSH:D010974" "Orphanet:662829" "MEDGEN:1648327" "OMIM:618092" "UMLS:C4748152" + "SNOMEDCT:60649002" + "MeSH:D010974" "UMLS:C3278384" "DOID:0112263" "MEDGEN:480014" @@ -145868,7 +145524,6 @@ "Wikipedia:Polysorbate_20" "CAS:9005-64-5" "SNOMEDCT:412167000" - "Beilstein:8973037" "FMA:225275" "MESH:C565068" "MEDGEN:338798" @@ -146086,8 +145741,8 @@ "UMLS:C1839797" "PMID:24816252" "ZFS:0000015" - "SNOMEDCT:38057009" "PMID:35347128" + "SNOMEDCT:38057009" "PMID:28240269" "GARD:4628" "DOID:0111809" @@ -146161,7 +145816,6 @@ "Patent:US5399578" "LINCS:LSM-2993" "Drug_Central:2806" - "Beilstein:7754038" "HMDB:HMDB0014323" "Reaxys:7754038" "Patent:EP443983" @@ -146225,8 +145879,8 @@ "OMIM:300845" "OMIM:106995" "ICD10:Q84.6" - "PMID:23823483" "PMID:33204752" + "PMID:23823483" "UMLS:C0028977" "EV:0100084" "CALOHA:TS-2004" @@ -146273,12 +145927,12 @@ "NANDO:2100086" "PMID:33634981" "Orphanet:295041" - "PMID:34804013" "OMIM:614976" "MedDRA:10081310" "UMLS:C1275078" "ICD10:Q87.0" "OMIM:201000" + "PMID:34804013" "SNOMEDCT:5913000" "MedDRA:10016450" "MeSH:D005265" @@ -146444,18 +146098,18 @@ "PMID:29875488" "PMID:26490019" "icd11.foundation:764124124" - "MESH:D006100" + "MEDGEN:42291" + "UMLS:C0018190" + "ICD10CM:A58" + "DOID:9113" "MONDO:0005777" "MeSH:D006100" - "MEDGEN:42291" + "MESH:D006100" + "ICD10:A58" "SCTID:28867007" - "ICD10CM:A58" - "UMLS:C0018190" - "ICD9:099.2" "MedDRA:10018693" - "ICD10:A58" - "DOID:9113" "NCIT:C3065" + "ICD9:099.2" "NCIt:C92258" "SNOMEDCT:313995005" "NCIt:C38003" @@ -146674,7 +146328,6 @@ "PMID:18639606" "Gmelin:341351" "CAS:94-62-2" - "Beilstein:90741" "Reaxys:90741" "Wikipedia:Piperine" "KEGG:C03882" @@ -146783,18 +146436,17 @@ "PMID:16184232" "PMID:17027219" "PMID:16720708" - "Beilstein:3132" "PMID:29875488" "NCIt:C27166" - "MESH:D007759" - "MEDGEN:141671" "MONDO:0002467" - "SCTID:232297009" "ICD10CM:H80-H83" - "ICD10:H83" - "DOID:2952" "NCIT:C27166" + "SCTID:232297009" + "MEDGEN:141671" + "DOID:2952" + "ICD10:H83" "UMLS:C0494559" + "MESH:D007759" "UMLS:C0027086" "MESH:D009214" "DOID:2691" @@ -146847,7 +146499,6 @@ "HMDB:HMDB0000157" "PMID:23670363" "ECMDB:ECMDB00157" - "Beilstein:5811" "DrugBank:DB04076" "PMID:23400363" "KNApSAcK:C00001502" @@ -147156,8 +146807,6 @@ "DOID:0110913" "Orphanet:247676" "OMIM:146300" - "UMLS:C0268517" - "ICD10:E72.8" "Orphanet:2169" "DOID:0112255" "NANDO:2201109" @@ -147177,6 +146826,8 @@ "Orphanet:171680" "OMIM:611603" "MEDGEN:930822" + "UMLS:C0268517" + "ICD10:E72.8" "PMID:35668104" "SNOMEDCT:49370004" "NCIt:C25230" @@ -147343,13 +146994,13 @@ "SNOMEDCT:258673006" "NCIt:C28251" "MO:648" + "SCTID:176770005" + "ZFA:0009260" + "FMA:68653" "UMLS:C1846056" "OMIM:300262" "MeSH:C535556" "ICD10:Q87.8" - "SCTID:176770005" - "ZFA:0009260" - "FMA:68653" "SAEL:36" "MA:0000397" "FMA:18255" @@ -147371,7 +147022,6 @@ "Drug_Central:2082" "Wikipedia:Benzylpenicillin" "Patent:US3024169" - "Beilstein:44740" "PMID:11431418" "PMID:11906332" "PMID:25998949" @@ -147470,7 +147120,6 @@ "MA:0001809" "EMAPA:37584" "MA:0001810" - "PMID:33634981" "UMLS:C5203410" "Orphanet:221016" "GARD:17135" @@ -147478,6 +147127,7 @@ "OMIM:268400" "NCIT:C178827" "MEDGEN:1684753" + "PMID:33634981" "PMID:25147954" "UMLS:C1306663" "MEDGEN:727129" @@ -147500,8 +147150,8 @@ "NANDO:1200860" "GARD:12603" "DOID:0080300" - "PMID:26785701" "PMID:37794183" + "PMID:26785701" "DOID:2834" "ICD9:289.0" "NCIT:C27178" @@ -147573,14 +147223,14 @@ "Orphanet:261938" "MEDGEN:162776" "Medgen:CN239353" + "BTO:0000315" + "FBbt:00005428" "Orphanet:98949" "UMLS:C5437887" "DOID:0111719" "MEDGEN:1773866" "icd11.foundation:162797488" "GARD:16876" - "BTO:0000315" - "FBbt:00005428" "UMLS:C0346084" "MEDGEN:91081" "NCIT:C4492" @@ -147798,7 +147448,6 @@ "MedDRA:10083936" "UMLS:C0398738" "ICD10:D84.8" - "PMID:36168886" "GARD:17908" "DOID:2876" "NCIT:C4044" @@ -147813,6 +147462,7 @@ "GARD:18526" "UMLS:C5436525" "OMIM:618974" + "PMID:36168886" "UMLS:C1300585" "DOID:7141" "MONDO:0006390" @@ -148116,7 +147766,6 @@ "PMID:28240269" "PMID:37794183" "PMID:33204752" - "PMID:23823483" "PMID:25092597" "Reaxys:3629989" "KNApSAcK:C00000185" @@ -148129,6 +147778,7 @@ "PMID:25700090" "HMDB:HMDB0034423" "PMID:23823483" + "PMID:23823483" "NCIt:C12314" "BTO:0000907" "MedDRA:10066435" @@ -148273,7 +147923,6 @@ "KEGG:D05567" "Reaxys:9385260" "Reaxys:9319177" - "Beilstein:10149223" "CAS:9005-67-8" "Reaxys:15555053" "SNOMEDCT_US:275478007" @@ -148505,17 +148154,17 @@ "ONCOTREE:SDCA" "MEDGEN:220969" "PMID:36168886" + "ICD10:D81.2" "GARD:17313" "DOID:0080060" "MEDGEN:482082" "UMLS:C3280452" "OMIM:614322" "Orphanet:284282" - "ICD10:D81.2" - "SNOMEDCT:25510005" - "MeSH:D006350" "PMID:24248345" "PMID:30586455" + "SNOMEDCT:25510005" + "MeSH:D006350" "DOID:0110185" "OMIM:214400" "UMLS:C1859198" @@ -148872,18 +148521,18 @@ "DOID:3299" "MESH:D015012" "PMID:29875488" - "DOID:0090069" - "OMIM:610100" - "Orphanet:401964" - "UMLS:C1864695" - "MEDGEN:400593" - "GARD:12447" "Beilstein:8331263" "MeSH:C087876" "NCIt:C68370" "KEGG:C18727" "CAS:120928-09-8" "PPDB:292" + "DOID:0090069" + "OMIM:610100" + "Orphanet:401964" + "UMLS:C1864695" + "MEDGEN:400593" + "GARD:12447" "PMID:23823483" "PMID:37794183" "PMID:37794183" @@ -149008,12 +148657,12 @@ "MEDGEN:483335" "Orphanet:300525" "UMLS:C3469605" + "ZFA:0000948" + "PMID:19962984" "UMLS:C0342712" "ICD10:E71.2" "ICD10:E71.1" "ICD10:E71.0" - "ZFA:0000948" - "PMID:19962984" "PMID:35347128" "PMID:35668104" "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03521&Product=CC" @@ -149066,7 +148715,6 @@ "UMLS:C0017205" "ICD10CM:E75.22" "Reaxys:6391251" - "Beilstein:6391251" "GARD:18744" "Orphanet:1724" "SNOMEDCT_US:419076005" @@ -149104,12 +148752,12 @@ "ICD10:Q93.5" "OMIM:613443" "PMID:29875488" - "PMID:35347128" "DOID:0110312" "OMIM:600858" "MEDGEN:331466" "MESH:C563436" "UMLS:C1833236" + "PMID:35347128" "RRID:CVCL_3744" "BTO:0002544" "UMLS:C0154856" @@ -149475,9 +149123,6 @@ "UMLS:C3272399" "MEDGEN:474032" "ONCOTREE:SWDNET" - "UMLS:C0432261" - "OMIM:611497" - "ICD10:Q78.2" "DECIPHER:17" "MESH:D058495" "NANDO:2200953" @@ -149495,6 +149140,9 @@ "NCIT:C75019" "NORD:1727" "GARD:10091" + "UMLS:C0432261" + "OMIM:611497" + "ICD10:Q78.2" "MONDO:0003155" "UMLS:C0018920" "ICDO:9121/0" @@ -149636,15 +149284,15 @@ "MedDRA:10025873" "MedDRA:10061238" "MeSH:D003390" + "MEDGEN:1849971" + "UMLS:C5848070" + "NCIT:C3337" "UMLS:C0268517" "GARD:18970" "icd11.foundation:34853044" "Orphanet:79196" "MEDGEN:541345" "SCTID:9128006" - "MEDGEN:1849971" - "UMLS:C5848070" - "NCIT:C3337" "PMID:23876538" "PMID:19201992" "PMID:16778086" @@ -149654,7 +149302,6 @@ "CAS:20554-84-1" "PMID:19555300" "PMID:23898080" - "Beilstein:3550011" "PMID:15987517" "PMID:11410248" "PMID:14501955" @@ -149763,9 +149410,6 @@ "SNOMEDCT:113675004" "OMIM:101000" "MeSH:DO16518" - "BTO:0004404" - "CLO:0001985" - "RRID:CVCL_3454" "NCIt:C50807" "UMLS:C0423361" "MeSH:D020255" @@ -149777,6 +149421,9 @@ "MONDO:0007017" "MESH:D020255" "SCTID:53772007" + "BTO:0004404" + "CLO:0001985" + "RRID:CVCL_3454" "OMIM:149700" "MEDGEN:332018" "UMLS:C1835612" @@ -150009,15 +149656,6 @@ "ONCOTREE:COAD" "DOID:234" "Wikipedia:Plasmopara_viticola" - "ICD10:E75.2" - "MeSH:D052517" - "UMLS:C1720864" - "UMLS:C0268263" - "OMIM:272200" - "MedDRA:10028176" - "DOID:50441" - "SNOMEDCT:54898003" - "NCIt:C84908" "PMID:29875488" "MESH:D020751" "MEDGEN:65935" @@ -150027,6 +149665,15 @@ "GARD:18176" "UMLS:C3808889" "MEDGEN:815219" + "ICD10:E75.2" + "MeSH:D052517" + "UMLS:C1720864" + "UMLS:C0268263" + "OMIM:272200" + "MedDRA:10028176" + "DOID:50441" + "SNOMEDCT:54898003" + "NCIt:C84908" "NCIT:C12691" "SCTID:181308008" "UMLS:C0007770" @@ -150104,6 +149751,8 @@ "SCTID:718632004" "PMID:31172493" "PMID:33717105" + "MeSH:C536664" + "UMLS:C1832200" "MA:0000925" "FMA:61884" "PMID:18348718" @@ -150115,14 +149764,12 @@ "DOID:0070162" "NORD:1237" "MEDGEN:5645" - "MeSH:C536664" - "UMLS:C1832200" + "PMID:35347128" "EFO:0002613" "NCIT:C35873" "MEDGEN:235203" "MONDO:0005188" "UMLS:C1334149" - "PMID:35347128" "RRID:CVCL_2737" "BTO:0004232" "MESH:C538315" @@ -150220,8 +149867,8 @@ "UMLS:C2751260" "PMID:37253714" "PMID:29875488" - "PMID:29628937" "SNOMEDCT:243656002" + "PMID:29628937" "OMIM:610100" "ICD10:G60.0" "PMID:29875488" @@ -150458,8 +150105,8 @@ "NORD:1279" "Orphanet:576" "DOID:0080070" - "PMID:35347128" "ICD10:G31.8" + "PMID:35347128" "PMID:22770225" "PMID:19347970" "SNOMEDCT:113791007" @@ -150522,8 +150169,8 @@ "ICD10WHO:R95" "NCIt:C88418" "MeSH:D008570" - "BTO:0000887" "PMID:28928442" + "BTO:0000887" "PMID:37794183" "GARD:21124" "MEDGEN:38147" @@ -150848,13 +150495,13 @@ "MESH:D012779" "icd11.foundation:960900212" "UMLS:C0036996" - "MO:890" "PMID:29875488" - "PMID:37794183" + "MO:890" "UMLS:C1335994" "DOID:6880" "MEDGEN:234788" "NCIT:C5336" + "PMID:37794183" "PMID:37794183" "PMID:23924614" "PMID:37794183" @@ -150991,10 +150638,10 @@ "ZFA:0000949" "PMID:35347128" "PMID:35668104" - "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03558&Product=CC" "SNOMEDCT:24028007" "NCIt:C25228" "MAT:0000492" + "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03558&Product=CC" "MESH:D009140" "ICD10:M53" "ICD9:729.99" @@ -151137,18 +150784,17 @@ "PMID:37794183" "MEDGEN:1842681" "PMID:14760812" - "UMLS:C5680196" "Orphanet:91140" + "UMLS:C5680196" "GARD:19155" "MONDO:0019607" "NANDO:2201061" + "PMID:37794183" "SNOMEDCT_US:51406002" "UMLS:C0241703" - "PMID:37794183" "CAS:6418-92-4" "Reaxys:1727736" "KEGG:C03274" - "Beilstein:1727736" "Beilstein:3904478" "Reaxys:3904478" "Gmelin:326031" @@ -151444,13 +151090,13 @@ "PMID:29875488" "PMID:27526324" "PMID:28240269" - "PMID:34814699" "Orphanet:199302" "GARD:17091" "icd11.foundation:172183323" "MedDRA:10009259" "MEDGEN:40327" "UMLS:C0008924" + "PMID:34814699" "DOID:14499" "NORD:1115" "Orphanet:324" @@ -151722,13 +151368,13 @@ "MAT:0000346" "PMID:29875488" "PMID:35347128" - "BTO:0000538" - "FMA:62501" "OMIM:101200" "OMIM:101400" "MeSH:D000168" "DOID:12960" "OMIM:101600" + "BTO:0000538" + "FMA:62501" "ZFA:0001320" "MA:0000076" "EMAPA:17868" @@ -151790,12 +151436,12 @@ "ICD10:Q87.8" "UMLS:C1859082" "OMIM:215850" - "PMID:24816252" "PMID:37794183" "MEDGEN:102260" "NCIT:C116812" "SCTID:70572005" "UMLS:C0153252" + "PMID:24816252" "GARD:19556" "MedDRA:10061080" "Orphanet:98724" @@ -152120,7 +151766,6 @@ "NCIT:C60640" "MEDGEN:364314" "UMLS:C1882915" - "Beilstein:102378" "HMDB:HMDB0031305" "CAS:75-21-8" "PMID:11437638" @@ -152235,12 +151880,6 @@ "UMLS:C0346902" "DOID:6098" "icd11.foundation:610018988" - "NCIT:C4800" - "MedDRA:10057407" - "MEDGEN:101180" - "UMLS:C0524801" - "NCIt:C4800" - "MONDO:0021231" "PMID:24816252" "DOID:0060430" "GARD:12388" @@ -152252,6 +151891,12 @@ "BTO:0003261" "RRID:CVCL_3283" "CLO:0003663" + "NCIT:C4800" + "MedDRA:10057407" + "MEDGEN:101180" + "UMLS:C0524801" + "NCIt:C4800" + "MONDO:0021231" "ICD10:G10" "MeSH:D006816" "OMIM:143100" @@ -152513,6 +152158,7 @@ "Wikipedia:Enthesis" "SCTID:410054009" "FMA:14559" + "PMID:29875488" "MEDGEN:205111" "UMLS:C1112166" "DOID:3003" @@ -152526,10 +152172,9 @@ "MESH:C537104" "DOID:0060232" "SCTID:764810000" - "PMID:29875488" - "NCIt:C112324" - "PMID:28369058" "PMID:36168886" + "PMID:28369058" + "NCIt:C112324" "MeSH:D006956" "SNOMEDCT:38101003" "ICD9:367.0" @@ -152546,7 +152191,6 @@ "PMID:15618158" "UM-BBD_compID:c0111" "MetaCyc:FUM" - "Beilstein:1861276" "Gmelin:325288" "PMID:28240269" "PMID:35995766" @@ -152715,7 +152359,6 @@ "DOID:0050592" "Orphanet:474" "SCTID:75049004" - "PMID:35347128" "ICD10:G31.8" "OMIM:609254" "OMIM:266900" @@ -152729,6 +152372,7 @@ "OMIM:613615" "OMIM:616629" "MedDRA:10084074" + "PMID:35347128" "PMID:29875488" "UMLS:C4025875" "DOID:0111478" @@ -152824,6 +152468,7 @@ "ICD9:132.9" "MESH:D010373" "DOID:5502" + "PMID:31666285" "FMA:52736" "MA:0001472" "MESH:D013100" @@ -152838,7 +152483,6 @@ "MEDGEN:1826133" "UMLS:C5681797" "Orphanet:101956" - "PMID:31666285" "MEDGEN:332193" "GARD:12535" "UMLS:C1836373" @@ -152898,6 +152542,10 @@ "Orphanet:1506" "GARD:18727" "PMID:29875488" + "UMLS:C2064434" + "NCIT:C5860" + "DOID:3254" + "MEDGEN:473530" "MedDRA:10064963" "OMIM:608328" "ICD10:Q87.0" @@ -152905,10 +152553,6 @@ "UMLS:C0265313" "MeSH:D056846" "OMIM:277600" - "UMLS:C2064434" - "NCIT:C5860" - "DOID:3254" - "MEDGEN:473530" "Patent:BE872585" "CiteXplore:21969105" "PMID:22059694" @@ -153214,9 +152858,9 @@ "PMID:37794183" "NCIt:C51812" "UMLS:C0311237" + "Wikipedia:Spindle_apparatus" "OMIM:616280" "ICD10:G60.0" - "Wikipedia:Spindle_apparatus" "Beilstein:3536580" "PDBeChem:IMD" "Gmelin:122674" @@ -153684,6 +153328,7 @@ "UMLS:C0008523" "MEDGEN:3059" "NCIT:C2949" + "PMID:32641083" "SCTID:71908006" "NANDO:2200227" "MeSH:D014693" @@ -153699,7 +153344,6 @@ "NCIt:C50799" "MEDGEN:21844" "icd11.foundation:1662472992" - "PMID:32641083" "UMLS:C0000737" "NCIt:C26682" "MEDDRA:10000081" @@ -153781,9 +153425,9 @@ "GAID:581" "EMAPA:35835" "UMLS:C1269578" + "NCIt:C15327" "NCIt:C2876" "PMID:19347970" - "NCIt:C15327" "SCTID:109355002" "MEDGEN:763" "UMLS:C0007099" @@ -153838,8 +153482,8 @@ "icd11.foundation:1639000446" "DOID:0111987" "GARD:12375" - "PMID:31832568" "MO:726" + "PMID:31832568" "PMID:26087016" "UMLS:C5561927" "MEDGEN:1794137" @@ -153917,7 +153561,6 @@ "ZFA:0000822" "PubChem:496" "KEGG COMPOUND:C01029" - "NCIt:C39945" "UMLS:C4746631" "GARD:3324" "MedDRA:10027138" @@ -153928,6 +153571,7 @@ "SCTID:230325003" "DOID:0070213" "OMIM:153200" + "NCIt:C39945" "PMID:34503513" "NCIt:C86294" "SNOMEDCT:41468005" @@ -154080,7 +153724,6 @@ "Reaxys:116474" "PMID:15673755" "KEGG:C07665" - "Beilstein:116474" "Patent:GB800250" "LINCS:LSM-5620" "HMDB:HMDB0014747" @@ -154090,11 +153733,11 @@ "Drug_Central:1083" "DrugBank:DB00609" "PMID:15850780" + "NCIt:C70811" "OMIM:619083" "UMLS:C5436771" "GARD:18533" "MEDGEN:1725056" - "NCIt:C70811" "MESH:D034701" "MONDO:0019023" "HP:0200151" @@ -154141,7 +153784,6 @@ "KNApSAcK:C00000003" "PMID:23857350" "PMID:23818834" - "Beilstein:54346" "PMID:22516192" "SCTID:278065000" "EFO:1001080" @@ -154356,7 +153998,6 @@ "PMID:10751565" "PMID:22770225" "PMID:9621392" - "Beilstein:82108" "PMID:22585541" "PMID:22529223" "HMDB:HMDB0014330" @@ -154440,6 +154081,9 @@ "MEDGEN:337527" "Orphanet:79022" "UMLS:C1846175" + "OMIM:157151" + "UMLS:C1834880" + "ICD10:Q87.5" "ICD9:719.31" "SCTID:50442003" "ICD9:719.38" @@ -154454,9 +154098,6 @@ "MEDGEN:39080" "DOID:1166" "ICD9:719.32" - "OMIM:157151" - "UMLS:C1834880" - "ICD10:Q87.5" "PMID:37164013" "JAX:000664" "MeSH:NoID" @@ -154487,6 +154128,13 @@ "MEDGEN:99336" "MESH:D002659" "SCTID:35919005" + "SCTID:722031003" + "Orphanet:2328" + "MESH:C537008" + "OMIM:244300" + "GARD:3078" + "UMLS:C0796005" + "MEDGEN:208654" "OMIM:158320" "GARD:0006821" "UMLS:C1321489" @@ -154497,13 +154145,6 @@ "MedDRA:10063042" "Orphanet:587" "DOID:0050465" - "SCTID:722031003" - "Orphanet:2328" - "MESH:C537008" - "OMIM:244300" - "GARD:3078" - "UMLS:C0796005" - "MEDGEN:208654" "MedDRA:10063573" "ICD9:985.0" "Orphanet:330021" @@ -154675,10 +154316,10 @@ "DOID:8517" "DOID:8514" "UMLS:C0155671" + "PMID:34503513" "SNOMEDCT:32037004" "MedDRA:10056573" "MeSH:D005925" - "PMID:34503513" "WBls:0000724" "PMID:28240269" "UMLS:C4072940" @@ -155037,10 +154678,10 @@ "UMLS:C0029454" "SNOMEDCT_US:1926006" "SNOMEDCT_US:367489004" - "MeSH:D056830" - "PMID:29875488" "OMIM:126550" "ICD10:M85.8" + "MeSH:D056830" + "PMID:29875488" "PMID:24816252" "UMLS:C5568766" "Orphanet:528084" @@ -155375,7 +155016,6 @@ "MONDO:0006556" "DOID:3158" "PMID:33634981" - "RRID:CVCL_2458" "DOID:14753" "Orphanet:33" "NORD:712" @@ -155389,6 +155029,7 @@ "OMIM:243500" "UMLS:C0268575" "GARD:465" + "RRID:CVCL_2458" "UMLS:C2677109" "MEDGEN:383026" "MESH:C567390" @@ -155889,6 +155530,7 @@ "UMLS:C1852454" "OMIM:123560" "ICD10:Q69.2" + "PMID:35347128" "NCIT:C6637" "DOID:5560" "UMLS:C1334669" @@ -155897,7 +155539,6 @@ "EFO:0003424" "ZFA:0000063" "TAO:0000063" - "PMID:35347128" "PMID:28369058" "PMID:36168886" "PMID:30134952" @@ -156460,6 +156101,8 @@ "Orphanet:295053" "icd11.foundation:790781203" "ICD10:Q87.0" + "ICD10:D81.2" + "OMIM:608971" "MedDRA:10055608" "MeSH:D006450" "SCTID:33559001" @@ -156473,22 +156116,20 @@ "NORD:1645" "NCIT:C131000" "OMIM:262190" - "ICD10:D81.2" - "OMIM:608971" "SNOMEDCT:123973009" "MeSH:D009011" "ICD10:S52.27" "PMID:29875488" - "GARD:17893" - "Orphanet:488613" - "MEDGEN:1798905" - "UMLS:C5567482" + "MedDRA:10044055" "DOID:0111956" "UMLS:C4014863" "Orphanet:319581" "OMIM:615978" "MEDGEN:863300" - "MedDRA:10044055" + "GARD:17893" + "Orphanet:488613" + "MEDGEN:1798905" + "UMLS:C5567482" "NCIT:C131504" "UMLS:C3150901" "SCTID:763367009" @@ -156541,14 +156182,12 @@ "KEGG:C07888" "Drug_Central:758" "CAS:50-18-0" - "Beilstein:11744" "SNOMEDCT:74470007" "Reaxys:11744" "Wikipedia:Cyclophosphamide" "PMID:15711186" "LINCS:LSM-4961" "KNApSAcK:C00007326" - "Beilstein:171027" "Reaxys:171027" "PMID:11712316" "HMDB:HMDB0001991" @@ -157056,8 +156695,8 @@ "CiteXplore:12882648" "PMID:10684759" "HMDB:HMDB0002369" - "CAS:5300-03-8" "KEGG:C15493" + "CAS:5300-03-8" "Wikipedia:Alitretinoin" "NCIt:C1574" "LIPID_MAPS_instance:LMPR01090022" @@ -157189,7 +156828,6 @@ "PMID:6056488" "Patent:US2770618" "Reaxys:91747" - "Beilstein:91747" "PMID:5704163" "KNApSAcK:C00002267" "KEGG:C10826" @@ -157292,7 +156930,6 @@ "MeSH:C082585" "NCIT:C113169" "Orphanet:181368" - "Beilstein:1209788" "KEGG:D08839" "FAO/WHO_standards:174" "PMID:24491734" @@ -157332,11 +156969,11 @@ "SCTID:720757001" "GARD:428" "PMID:37794183" + "PMID:28240269" "NCIT:C6246" "DOID:3258" "UMLS:C1335127" "MEDGEN:233267" - "PMID:28240269" "PMID:35347128" "PMID:35668104" "MESH:C535454" @@ -157374,14 +157011,8 @@ "NCIT:C34425" "ICD10CM:J67.2" "PMID:33634981" - "PMID:29875488" - "RRID:CVCL_E813" - "MEDGEN:1371401" - "SCTID:733418003" - "GARD:17637" - "Orphanet:397715" - "UMLS:C4518774" "ICD10:Q71.1" + "PMID:29875488" "icd11.foundation:558060012" "SCTID:6807001" "MONDO:0006692" @@ -157397,6 +157028,12 @@ "ICD10:G37.2" "MedDRA:10007968" "ICD9:341.8" + "RRID:CVCL_E813" + "MEDGEN:1371401" + "SCTID:733418003" + "GARD:17637" + "Orphanet:397715" + "UMLS:C4518774" "GARD:17105" "OMIM:612237" "ONCOTREE:EMCHS" @@ -157495,6 +157132,11 @@ "MEDGEN:66723" "SCTID:15170009" "NCIT:C27016" + "UMLS:C1832916" + "MedDRA:10079205" + "ICD10:I45.8" + "MeSH:C536962" + "OMIM:601005" "UMLS:C0282207" "MedDRA:10062907" "OMIM:175500" @@ -157510,11 +157152,6 @@ "UMLS:C0342284" "ICD10:E31.8" "MeSH:C537902" - "UMLS:C1832916" - "MedDRA:10079205" - "ICD10:I45.8" - "MeSH:C536962" - "OMIM:601005" "OMIM:618195" "UMLS:C4748658" "GARD:16306" @@ -157955,6 +157592,7 @@ "MEDGEN:930922" "OMIM:616000" "GARD:13056" + "PMID:37596262" "KEGG COMPOUND:C00326" "NCIt:C16642" "MeSH:D006023" @@ -157962,7 +157600,6 @@ "SNOMEDCT:59804006" "MEDGEN:1843486" "UMLS:C0541403" - "PMID:37596262" "ICD9:712" "SCTID:18834007" "UMLS:C0152087" @@ -158050,7 +157687,6 @@ "KEGG:C05635" "PMID:11063613" "PMID:22770225" - "Beilstein:168797" "MetaCyc:5-HYDROXYINDOLE_ACETATE" "UMLS:CN202399" "Orphanet:2680" @@ -158244,7 +157880,6 @@ "Orphanet:98565" "PMID:29875488" "PMID:37164013" - "PMID:23823483" "icd11.foundation:1623148241" "DOID:11669" "UMLS:C0155213" @@ -158254,6 +157889,17 @@ "CLO:0009853" "BTO:0004620" "RRID:CVCL_1844" + "PMID:23823483" + "UMLS:C0234376" + "UMLS:C4020856" + "SNOMEDCT_US:30721006" + "MONDO:0005730" + "MeSH:D004022" + "MESH:D004022" + "DOID:4754" + "NIFSTD:birnlex_106" + "Fyler:3020" + "Fyler:3011" "MEDGEN:52527" "DOID:8970" "ICD10CM:A81.1" @@ -158274,16 +157920,6 @@ "NCIT:C85171" "Orphanet:2806" "GARD:7708" - "UMLS:C0234376" - "UMLS:C4020856" - "SNOMEDCT_US:30721006" - "MONDO:0005730" - "MeSH:D004022" - "MESH:D004022" - "DOID:4754" - "NIFSTD:birnlex_106" - "Fyler:3020" - "Fyler:3011" "GARD:5290" "MEDGEN:348710" "UMLS:C1860804" @@ -158320,26 +157956,26 @@ "NCIT:C4771" "ICD9:210.2" "SCTID:92205005" + "MeSH:D063371" "GARD:17364" "SCTID:725463007" "MEDGEN:815250" "OMIM:615234" "UMLS:C3808920" "Orphanet:300298" - "MeSH:D063371" - "PMID:29875488" "PMID:29875488" + "PMID:29875488" "SNOMEDCT:20855009" - "PubChem:99715" - "CAS:4033-40-3" "PMID:31235808" "DOID:3781" "UMLS:C0003128" "MEDGEN:1951" "icd11.foundation:563648258" "MESH:D000858" - "PMID:30706531" + "PubChem:99715" + "CAS:4033-40-3" "MESH:D005393" + "PMID:30706531" "PMID:24095734" "RRID:CVCL_1648" "NCIT:C128191" @@ -158853,7 +158489,6 @@ "KEGG:C08278" "Reaxys:1210161" "LIPID_MAPS_instance:LMFA01170001" - "Beilstein:1210161" "PMID:22770225" "PDBeChem:OCE" "CAS:505-48-6" @@ -159270,7 +158905,6 @@ "TAO:0001132" "Reaxys:2215792" "PMID:4107635" - "Beilstein:2215792" "SCTID:716008002" "UMLS:C1851120" "MESH:C565016" @@ -159342,7 +158976,6 @@ "PMID:22702720" "PMID:23249408" "Reaxys:1720538" - "Beilstein:1720538" "PMID:23342358" "PMID:22678902" "CAS:1921-70-6" @@ -159694,7 +159327,6 @@ "HMDB:HMDB0014925" "LINCS:LSM-5459" "Patent:US4199574" - "Beilstein:1219402" "PMID:11994034" "Drug_Central:85" "SNOMEDCT:372729009" @@ -159793,13 +159425,13 @@ "DOID:0060360" "MEDGEN:350144" "UMLS:C1863343" + "OMIM:191800" + "UMLS:C5231389" + "MEDGEN:1684829" "MEDGEN:275871" "UMLS:C1517120" "NCIT:C40109" "DOID:3705" - "OMIM:191800" - "UMLS:C5231389" - "MEDGEN:1684829" "PMID:29875488" "UMLS:C0271847" "SCTID:19034001" @@ -159950,6 +159582,9 @@ "OMIM:268400" "MeSH:D011038" "ICD10:Q82.8" + "ICD10:Q76.4" + "MeSH:C537238" + "UMLS:C2931453" "PMID:8437507" "LIPID_MAPS_instance:LMST05020003" "HMDB:HMDB0002580" @@ -159960,12 +159595,8 @@ "Reaxys:9174999" "KEGG:C03642" "Beilstein:9174999" - "ICD10:Q76.4" - "MeSH:C537238" - "UMLS:C2931453" "MedDRA:10052464" "Orphanet:165805" - "TAO:0000113" "FMA:76622" "EHDAA2:0000732" "EMAPA_RETIRED:16269" @@ -159974,6 +159605,7 @@ "EMAPA:16098" "EFO:0003492" "VHOG:0000332" + "TAO:0000113" "SNOMEDCT:77601007" "NCIt:C17201" "SNOMEDCT_US:29753000" @@ -160272,13 +159904,6 @@ "ICD9:374.55" "PMID:37164013" "PMID:23823483" - "NCIt:C12388" - "MA:0000340" - "BTO:0000657" - "FMA:7207" - "SAEL:56" - "MAT:0000045" - "EV:0100074" "ICD9:721.6" "DOID:6652" "GARD:842" @@ -160293,6 +159918,13 @@ "MONDO:0007127" "MeSH:D004057" "MEDGEN:5695" + "NCIt:C12388" + "MA:0000340" + "BTO:0000657" + "FMA:7207" + "SAEL:56" + "MAT:0000045" + "EV:0100074" "UMLS:C1861835" "MEDGEN:350520" "GARD:5554" @@ -160485,7 +160117,6 @@ "Patent:US3663607" "KEGG:D00235" "Gmelin:2179742" - "Beilstein:2739235" "GARD:22231" "Orphanet:543470" "MEDGEN:1807322" @@ -160520,7 +160151,6 @@ "SNOMEDCT:10504007" "VSDB:1840" "PMID:34338231" - "Beilstein:3041790" "PMID:34228348" "KEGG:D07876" "PMID:11891205" @@ -160715,6 +160345,7 @@ "DOID:5913" "MEDGEN:272380" "NCIT:C5823" + "PMID:29875488" "PMID:33634981" "OMIM:125500" "UMLS:C0399378" @@ -160730,7 +160361,6 @@ "MEDGEN:337052" "GARD:15290" "OMIM:304950" - "PMID:29875488" "PMID:35347128" "PMID:29875488" "PMID:37006874" @@ -160982,8 +160612,8 @@ "NCIt:C12427" "OMIM:161000" "ICD10:Q82.4" - "PMID:28369058" "PMID:29875488" + "PMID:28369058" "PMID:28240269" "NCIT:C6389" "DOID:3445" @@ -161055,6 +160685,7 @@ "icd11.foundation:1293648631" "OMIM:236795" "UMLS:C0342737" + "PMID:35347128" "UMLS:C0280856" "DOID:2101" "Orphanet:494448" @@ -161065,7 +160696,6 @@ "SCTID:254895003" "icd11.foundation:146824338" "EFO:1000624" - "PMID:35347128" "OMIM:617757" "OMIM:617622" "OMIM:610688" @@ -161088,6 +160718,8 @@ "OMIM:614424" "OMIM:618161" "OMIM:614615" + "UMLS:CN205736" + "Orphanet:77258" "Drug_Central:852" "NCIt:C28982" "PMID:11925051" @@ -161108,8 +160740,6 @@ "Wikipedia:Diazepam" "LINCS:LSM-2359" "HMDB:HMDB0014967" - "UMLS:CN205736" - "Orphanet:77258" "UMLS:C1842870" "OMIM:607872" "ICD10:Q93.5" @@ -161127,8 +160757,8 @@ "GAID:842" "EMAPA:16988" "EHDAA2:0000180" - "SCTID:181002002" "MESH:D001917" + "SCTID:181002002" "Wikipedia:Brachial_plexus" "ORCID:0000-0001-8222-008X" "PMID:33462484" @@ -161454,8 +161084,8 @@ "ICD9:084.8" "UMLS:C0005681" "MEDGEN:2277" - "MeSH:D001742" "MONDO:0005670" + "MeSH:D001742" "MESH:D001742" "DOID:14068" "NCIT:C34426" @@ -161547,22 +161177,22 @@ "SNOMEDCT:19464000" "NCIt:C86199" "PMID:37164013" + "PMID:29875488" "MEDGEN:234123" "DOID:6386" "NCIT:C6216" "UMLS:C1332950" - "PMID:29875488" "UMLS:C0262444" "SNOMEDCT_US:422775003" "UMLS:C0040427" + "PMID:30476138" + "NCIt:C64856" "DOID:0070249" "MESH:C567831" "MEDGEN:414476" "UMLS:C2751807" "OMIM:612998" "GARD:18206" - "PMID:30476138" - "NCIt:C64856" "MEDGEN:1826028" "GARD:20915" "Orphanet:263756" @@ -161715,6 +161345,12 @@ "NCIT:C114667" "UMLS:C4021873" "NCIt:C17723" + "GARD:19278" + "NANDO:2200313" + "Orphanet:95502" + "MEDGEN:1843262" + "ICD10CM:E23.0" + "UMLS:C5681569" "NCIT:C4978" "DOID:5672" "SCTID:363510005" @@ -161724,12 +161360,6 @@ "ICD10:C18.9" "KEGG:05210" "UMLS:C1527249" - "GARD:19278" - "NANDO:2200313" - "Orphanet:95502" - "MEDGEN:1843262" - "ICD10CM:E23.0" - "UMLS:C5681569" "UMLS:C0020075" "UMLS:C0002768" "OMIM:243000" @@ -161794,7 +161424,6 @@ "GARD:19578" "MEDGEN:1826078" "UMLS:C5680342" - "MedDRA:10027008" "OMIM:619733" "UMLS:C5676909" "MEDGEN:1812978" @@ -161821,6 +161450,7 @@ "MedDRA:10064848" "MeSH:D051436" "NANDO:2100008" + "MedDRA:10027008" "MAT:0000400" "XAO:1000008" "WBls:0000023" @@ -162262,15 +161892,15 @@ "MEDGEN:116058" "DOID:14452" "icd11.foundation:1494773635" + "UMLS:C1332619" + "NCIT:C5210" + "DOID:6491" + "MEDGEN:231963" "Orphanet:1705" "MEDGEN:444122" "MESH:C538034" "GARD:18739" "UMLS:C2931702" - "UMLS:C1332619" - "NCIT:C5210" - "DOID:6491" - "MEDGEN:231963" "PMID:32641083" "NCIT:C99089" "SCTID:27916005" @@ -162298,7 +161928,6 @@ "Patent:US4128658" "HMDB:HMDB0001930" "PMID:18609122" - "Beilstein:4327819" "CAS:66357-35-5" "Reaxys:4327819" "PMID:29875488" @@ -162325,7 +161954,6 @@ "PMID:26808199" "PMID:25287371" "Reaxys:290080" - "Beilstein:290080" "PMID:12692637" "PMID:22180948" "PMID:23369749" @@ -162414,13 +162042,13 @@ "ICD9:759.89" "PMID:29875488" "Reaxys:10227786" - "NCIt:C26938" - "MedDRA:10016667" "UMLS:C0686615" "SCTID:92408009" "MEDGEN:146355" "NCIT:C4902" "ICD9:211.9" + "NCIt:C26938" + "MedDRA:10016667" "MedDRA:10033266" "MEDGEN:38966" "DOID:5425" @@ -162645,7 +162273,6 @@ "MEDGEN:1788293" "OMIM:619314" "Reaxys:3904096" - "Beilstein:3904096" "KEGG:C00233" "ICD10:G31.0" "UMLS:C1867773" @@ -162690,7 +162317,6 @@ "Wikipedia:Saccharin" "Reaxys:6888" "MetaCyc:CPD-5581" - "Beilstein:6888" "Gmelin:4203" "HMDB:HMDB0029723" "PDBeChem:LSA" @@ -162719,6 +162345,7 @@ "MEDGEN:342386" "GARD:12361" "MESH:C564893" + "OMIM:300088" "MESH:D018636" "ICD9:746.7" "NANDO:2100071" @@ -162736,7 +162363,6 @@ "GARD:6739" "MEDGEN:57746" "ICD10CM:Q23.4" - "OMIM:300088" "RRID:CVCL_0363" "CLO:0007017" "BTO:0002269" @@ -162760,6 +162386,7 @@ "MEDGEN:1648363" "UMLS:C4748841" "DOID:0111854" + "PMID:27764670" "ICDO:9053/3" "NCIT:C4282" "DOID:4486" @@ -162767,7 +162394,6 @@ "UMLS:C0334515" "EFO:1000124" "MONDO:0006109" - "PMID:27764670" "PMID:35347128" "MESH:D007904" "FMA:58970" @@ -163000,6 +162626,7 @@ "ICD10CM:E78.5" "PMID:37164013" "PMID:26068415" + "PMID:35347128" "MAT:0000282" "FMA:7208" "SAEL:53" @@ -163008,7 +162635,6 @@ "BTO:0000620" "MA:0000339" "XAO:0000237" - "PMID:35347128" "UMLS:C0012517" "NORD:705" "DOID:14422" @@ -163166,13 +162792,13 @@ "UMLS:C5829571" "MEDGEN:1840207" "OMIM:301108" + "PMID:29875488" "PMID:24816252" "MEDGEN:422476" "UMLS:C2939420" "ICDO:8000/6" "MONDO:0024883" "NCIT:C3261" - "PMID:29875488" "PMID:27376770" "HP:0011419" "ICD9:641.20" @@ -163210,8 +162836,8 @@ "icd11.foundation:1006662041" "UMLS:C5680773" "PMID:37794183" - "PMID:35995766" "PMID:31530798" + "PMID:35995766" "UMLS:C1839630" "PMID:29875488" "MEDGEN:233981" @@ -163247,7 +162873,6 @@ "UMLS:C0265490" "MESH:C536799" "GARD:5335" - "MetaCyc:PWY0-662" "EC:2.7.6.1" "KEGG_REACTION:R01049" "Reactome:R-HSA-73580" @@ -163774,13 +163399,6 @@ "OMIM:249500" "MESH:C565406" "GARD:22537" - "UMLS:C0752191" - "DOID:13722" - "icd11.foundation:446216876" - "MESH:D020818" - "MEDGEN:155718" - "MONDO:0005874" - "MeSH:D020818" "Fyler:1100" "SNOMEDCT_US:15459006" "Fyler:606" @@ -163789,6 +163407,13 @@ "UMLS:C1389016" "Fyler:0606" "UMLS:C0014116" + "UMLS:C0752191" + "DOID:13722" + "icd11.foundation:446216876" + "MESH:D020818" + "MEDGEN:155718" + "MONDO:0005874" + "MeSH:D020818" "PMID:29875488" "NANDO:1200721" "SNOMEDCT:77182004" @@ -163946,6 +163571,7 @@ "Wikipedia:Ventral_tegmental_area" "BIRNLEX:1415" "MESH:D017557" + "PMID:23823483" "UMLS:C1859690" "MESH:C537560" "Orphanet:2848" @@ -163955,7 +163581,6 @@ "MONDO:0008828" "GARD:306" "MedDRA:10083494" - "PMID:23823483" "PMID:35347128" "UMLS:C0015310" "SNOMEDCT_US:399054005" @@ -164221,7 +163846,6 @@ "PMID:25468971" "PMID:24816110" "PMID:33304888" - "Beilstein:97831" "PMID:10566553" "KEGG:C00255" "PMID:3878498" @@ -164321,7 +163945,6 @@ "MetaCyc:IMP" "HMDB:HMDB0000175" "Gmelin:528845" - "Beilstein:630517" "DrugBank:DB04566" "PMID:7877593" "PDBeChem:IMP" @@ -164371,6 +163994,7 @@ "MEDGEN:231965" "PMID:37596262" "PMID:32641083" + "PMID:24816252" "SCTID:726707004" "DECIPHER:43" "MEDGEN:347562" @@ -164380,7 +164004,6 @@ "Orphanet:96121" "MESH:C565723" "OMIM:609757" - "PMID:24816252" "MA:0003165" "SCTID:181746004" "BTO:0005281" @@ -164396,6 +164019,10 @@ "EHDAA2:0000841" "NCIT:C32824" "EHDAA:5988" + "Orphanet:228396" + "UMLS:C4510249" + "GARD:20593" + "MEDGEN:1378529" "MESH:C564868" "GARD:5659" "SCTID:50658006" @@ -164408,10 +164035,6 @@ "NCIT:C120203" "DOID:0112248" "OMIM:264300" - "Orphanet:228396" - "UMLS:C4510249" - "GARD:20593" - "MEDGEN:1378529" "UMLS:C0014259" "NCIT:C12707" "SCTID:368827009" @@ -164524,6 +164147,10 @@ "OMIM:276700" "UMLS:C0268490" "ICD10:E70.2" + "OMIM:133540" + "UMLS:C0751038" + "ICD10:Q87.8" + "OMIM:216400" "PMID:6538443" "LINCS:LSM-19010" "PMID:7229743" @@ -164531,10 +164158,6 @@ "HMDB:HMDB0013713" "CAS:1218-34-4" "Reaxys:89476" - "OMIM:133540" - "UMLS:C0751038" - "ICD10:Q87.8" - "OMIM:216400" "ICD9:285.8" "MEDGEN:1801596" "NANDO:1200888" diff --git a/src/ontology/version.txt b/src/ontology/version.txt index 9993b95e..df3ad455 100644 --- a/src/ontology/version.txt +++ b/src/ontology/version.txt @@ -1 +1 @@ -3.71.0 +3.72.0