From ab3c76fae23cba1873ec1300535247076d4eb479 Mon Sep 17 00:00:00 2001 From: Zoe May Pendlington Date: Fri, 8 Mar 2024 10:50:13 +0000 Subject: [PATCH] Added replacement aging term for #2188 and imported OBA term for #2189 --- efo-base.owl | 536 +++++------ src/ontology/components/mondo_efo_import.owl | 941 ++++++++++++------- src/ontology/components/subclasses.owl | 8 + src/ontology/efo-edit.owl | 18 +- src/ontology/imports/chebi_import.owl | 12 +- src/ontology/imports/fbbt_import.owl | 225 ++++- src/ontology/imports/hp_import.owl | 226 ++--- src/ontology/imports/hp_terms.txt | 1 + src/ontology/imports/oba_bot.owl | 906 ++++++++++++++++++ src/ontology/imports/oba_import.owl | 12 + src/ontology/imports/oba_terms.txt | 1 + src/ontology/imports/uberon_import.owl | 69 +- src/ontology/iri_dependencies/hp_terms.txt | 1 + src/ontology/iri_dependencies/oba_terms.txt | 1 + src/templates/subclasses.csv | 1 + 15 files changed, 2135 insertions(+), 823 deletions(-) diff --git a/efo-base.owl b/efo-base.owl index afad57dc..df578bc1 100644 --- a/efo-base.owl +++ b/efo-base.owl @@ -40,7 +40,7 @@ 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 - 2024-02-15 + 2024-03-08 3.63.0 @@ -7054,12 +7054,6 @@ License. - - - - - - @@ -7855,12 +7849,6 @@ License. - - - - - - @@ -11193,6 +11181,24 @@ License. + + + + + + + + + + + + + + + + + + @@ -32308,7 +32314,7 @@ label: cerebrospinal fluid acute myeloid leukemia of childhood MONDO:design_pattern - MONDO:patterns/childhood + MONDO:patterns/childhood @@ -32460,7 +32466,7 @@ label: cerebrospinal fluid pediatric acute myeloid leukemia DOID:0070323 - MONDO:patterns/childhood + MONDO:patterns/childhood NCIT:C9160 @@ -40121,7 +40127,7 @@ New Label : Duchenne muscular dystrophy carcinoma in situ of mammary duct - MONDO:patterns/carcinoma_in_situ + MONDO:patterns/carcinoma_in_situ @@ -40319,7 +40325,7 @@ New Label : Duchenne muscular dystrophy stage 0 mammary duct carcinoma - MONDO:patterns/carcinoma_in_situ + MONDO:patterns/carcinoma_in_situ @@ -111023,7 +111029,7 @@ A Jiyoye is bearer of a Burkitt's lymphoma. neoplasm (disease), benign - MONDO:patterns/benign + MONDO:patterns/benign @@ -118022,6 +118028,8 @@ New Label : Hereditary breast and ovarian cancer syndrome Macroglobulinemia is the presence of increased levels of macroglobulins in the circulating blood. It is a Plasma cell dyscrasia, resembling leukemia, with cells of lymphocytic, plasmacytic, or intermediate morphology, which secrete a monoclonal immunoglobulin M component. There is diffuse infiltration by the malignant cells of the bone marrow and also, in many cases, of the spleen, liver, or lymph nodes. The circulating macroglobulin can produce symptoms of hyperviscosity syndrome: weakness, fatigue, bleeding disorders, and visual disturbances. Peak incidence of macroglobulinemia is in the sixth and seventh decades of life. + https://github.com/monarch-initiative/mondo/issues/7120 + 2024-05-01 @@ -118042,7 +118050,9 @@ New Label : Hereditary breast and ovarian cancer syndromeprimary macroglobulinemia EFO:0002616 + + Reason of obsoletion: is a phenotype and not a disease - MONDO:excludePhenotype. Term to consider: Waldenstrom macroglobulinemia-MONDO:0100280 macroglobulinemia @@ -131339,8 +131349,8 @@ New Label : Retinoblastoma + - An instance of cardiomyopathy that is caused by an inherited modification of the individual's genome. Tomasz Adamusiak @@ -140824,7 +140834,7 @@ New Label : Meningioma HP:0008196 EFO:0003104 - MONDO:obsolete + MONDO:obsolete MONDO:otherHierarchy @@ -141025,7 +141035,7 @@ New Label : Meningioma - + @@ -141406,7 +141416,7 @@ New Label : Spinal muscular atrophy with respiratory distress - + A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms. A relatively common disorder characterized by a fairly specific pattern of tremors which are most prominent in the upper extremities and neck, inducing titubations of the head. The tremor is usually mild, but when severe may be disabling. An autosomal dominant pattern of inheritance may occur in some families (i.e., familial tremor). (Mov Disord 1988;13(1):5-10) @@ -161655,7 +161665,7 @@ Use: http://purl.obolibrary.org/obo/HP_0001249 - + @@ -161695,12 +161705,6 @@ Use: http://purl.obolibrary.org/obo/HP_0001249 EFO:0003857 arthrogryposis - - - - - https://orcid.org/0000-0001-5208-3432 - @@ -175580,6 +175584,7 @@ For instance, physical shearing can be done by probe sonication and nebulization + true DOID:2986 @@ -175678,7 +175683,7 @@ For instance, physical shearing can be done by probe sonication and nebulization Orphanet:34145 - MONDO:equivalentObsolete + MONDO:equivalentTo @@ -179481,7 +179486,7 @@ New Label : Hirschsprung disease - + A disorder characterized by the presence of persistent and recurrent irrational thoughts (obsessions), resulting in marked anxiety and repetitive excessive behaviors (compulsions) as a way to try to decrease that anxiety. 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. @@ -179515,12 +179520,6 @@ New Label : Hirschsprung disease EFO:0004242 obsessive-compulsive disorder - - - - - https://orcid.org/0000-0001-5208-3432 - @@ -183409,7 +183408,6 @@ New Label : Moyamoya disease - Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries. Cessation of ovarian function after MENARCHE but before the age of 40, without or with OVARIAN FOLLICLE depletion. It is characterized by the presence of OLIGOMENORRHEA or AMENORRHEA, elevated GONADOTROPINS, and low ESTRADIOL levels. It is a state of female HYPERGONADOTROPIC HYPOGONADISM. Etiologies include genetic defects, autoimmune processes, chemotherapy, radiation, and infections. @@ -183422,7 +183420,7 @@ New Label : Moyamoya disease true - DOID:5426 + DOID:5426 ICD10CM:E28.3 ICD9:253.4 ICD9:256.39 @@ -183470,11 +183468,9 @@ New Label : Moyamoya disease - - DOID:5426 - EFO:0004266/inferred - MESH:D016649 - NCIT:C113352/inferred + + ICD10CM:E28.3 + https://orcid.org/0000-0001-5208-3432 @@ -183485,7 +183481,7 @@ New Label : Moyamoya disease - DOID:5426 + DOID:5426 EFO:0004266 MONDO:equivalentTo @@ -183493,7 +183489,7 @@ New Label : Moyamoya disease ICD10CM:E28.3 - DOID:5426 + DOID:5426 MONDO:equivalentTo @@ -183507,7 +183503,7 @@ New Label : Moyamoya disease MESH:D016649 - DOID:5426 + DOID:5426 EFO:0004266 MONDO:equivalentTo @@ -183515,14 +183511,14 @@ New Label : Moyamoya disease NCIT:C113352 - DOID:5426 + DOID:5426 MONDO:equivalentTo Orphanet:619 - DOID:5426 + DOID:5426 MONDO:equivalentObsolete @@ -183535,14 +183531,14 @@ New Label : Moyamoya disease SCTID:65846009 - DOID:5426 + DOID:5426 MONDO:equivalentTo UMLS:C0085215 - DOID:5426 + DOID:5426 MONDO:equivalentTo @@ -183561,14 +183557,14 @@ New Label : Moyamoya disease primary ovarian insufficiency - DOID:5426 + DOID:5426 NCIT:C113352 hypergonadotropic hypogonadism - DOID:5426 + DOID:5426 @@ -183580,7 +183576,7 @@ New Label : Moyamoya disease premature menopause - DOID:5426 + DOID:5426 @@ -183593,7 +183589,7 @@ New Label : Moyamoya disease premature ovarian insufficiency - DOID:5426 + DOID:5426 @@ -190080,7 +190076,7 @@ New Label : Bronchopulmonary dysplasia - + @@ -190156,12 +190152,6 @@ New Label : Bronchopulmonary dysplasia NCIT:C3037 - - - - - ISBN-13:978-1-259-64403-0 - @@ -192757,39 +192747,20 @@ see https://github.com/ebispot/efo/issues/1381 - - - - - - - - - - - - - - - - - - - - - - - - + A PSA measurement is the quantification of prostate specific antigen typically in blood used in the diagnosis of prostate cancer. Helen Parkinson + http://purl.obolibrary.org/obo/OBA_2050200 true + 3.64.0 + Duplication NCIt:C17634 SNOMEDCT:63476009 PSA levels PSA measurement prostate specific antigen levels - prostate specific antigen measurement + obsolete_prostate specific antigen measurement + true @@ -199628,7 +199599,7 @@ New Label : Blepharophimosis-epicanthus inversus-ptosis - + @@ -199696,12 +199667,6 @@ New Label : Blepharophimosis-epicanthus inversus-ptosisDOID:11119 MESH:D005879 - - - - - MESH:D005879/inferred - @@ -207087,7 +207052,7 @@ Small-inducible cytokine A11. lung NET - MONDO:patterns/neuroendocrine_neoplasm + MONDO:patterns/neuroendocrine_neoplasm @@ -207113,13 +207078,13 @@ Small-inducible cytokine A11. lung neuroendocrine tumor MONDO:patterns/location - MONDO:patterns/neuroendocrine_neoplasm + MONDO:patterns/neuroendocrine_neoplasm lung neuroendocrine tumor, well differentiated, low or intermediate grade - MONDO:patterns/neuroendocrine_neoplasm + MONDO:patterns/neuroendocrine_neoplasm @@ -207131,7 +207096,7 @@ Small-inducible cytokine A11. neuroendocrine neoplasm of lung - MONDO:patterns/neuroendocrine_neoplasm + MONDO:patterns/neuroendocrine_neoplasm NCIT:C5670 @@ -210204,7 +210169,7 @@ Small-inducible cytokine A11. - + @@ -211665,7 +211630,7 @@ see https://github.com/ebispot/efo/issues/1381 - + Atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted. atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted @@ -216302,7 +216267,7 @@ Sira's response: seperate out HCA and HCS. This is different from ERO where - + The gradual irreversible changes in structure of skin that occur as a result of the passage of time.. In humans, skin aging can be precipitated as a result of weather and sun exposure, and expresses through the appearance of wrinkles and localised changes in skin pigmentation true MeSH:D015595 @@ -223302,7 +223267,7 @@ Sira's response: seperate out HCA and HCS. This is different from ERO where peritoneal mesothelioma (disease), malignant - MONDO:patterns/malignant + MONDO:patterns/malignant @@ -224965,6 +224930,7 @@ Sira's response: seperate out HCA and HCS. This is different from ERO where + @@ -225151,6 +225117,7 @@ Sira's response: seperate out HCA and HCS. This is different from ERO where + Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent. It affects hue discrimination in the same way as protanopia, but without the dimming effect. Like protanopia, it is hereditary, sex-linked, and found in about 1% of the male population. https://github.com/monarch-initiative/mondo/issues/4521 @@ -236018,7 +235985,7 @@ http://humupd.oxfordjournals.org/content/13/2/103.full - + @@ -236062,12 +236029,6 @@ http://humupd.oxfordjournals.org/content/13/2/103.full EFO:0005773 retinal detachment - - - - - https://orcid.org/0000-0001-5208-3432 - @@ -242116,8 +242077,9 @@ Use: http://purl.obolibrary.org/obo/CHEBI_22676 - + + A chronic condition characterized by recurrent generalized seizures. An epilepsy syndrome that is characterised by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain Dani Welter @@ -242129,7 +242091,7 @@ Use: http://purl.obolibrary.org/obo/CHEBI_22676 true - DOID:1827 + DOID:1827 MESH:C562694 MONDO:0005579 NCIT:C3021 @@ -242152,6 +242114,15 @@ Use: http://purl.obolibrary.org/obo/CHEBI_22676 generalised epilepsy + + + + + DOID:1827 + EFO:0005917 + MESH:D004829 + NCIT:C3021 + @@ -242161,7 +242132,7 @@ Use: http://purl.obolibrary.org/obo/CHEBI_22676 - DOID:1827 + DOID:1827 EFO:0005917 MONDO:equivalentTo @@ -242175,14 +242146,14 @@ Use: http://purl.obolibrary.org/obo/CHEBI_22676 NCIT:C3021 - DOID:1827 + DOID:1827 MONDO:equivalentTo OMIM:600669 - DOID:1827 + DOID:1827 MONDO:equivalentTo @@ -242195,7 +242166,7 @@ Use: http://purl.obolibrary.org/obo/CHEBI_22676 SCTID:19598007 - DOID:1827 + DOID:1827 MONDO:equivalentTo @@ -242228,7 +242199,7 @@ Use: http://purl.obolibrary.org/obo/CHEBI_22676 generalized epilepsy - DOID:1827 + DOID:1827 NCIT:C3021 @@ -242241,7 +242212,7 @@ Use: http://purl.obolibrary.org/obo/CHEBI_22676 idiopathic generalized epilepsy - DOID:1827 + DOID:1827 OMIM:600669 @@ -246070,23 +246041,21 @@ Use: http://purl.obolibrary.org/obo/CHEBI_22676 - A permanent mark left on the skin in the process of wound healing. + 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 MONDO:0005594 MedDRA:20000020 - NCIT:C34483 NCIt:C34483 - SCTID:275322007 SNOMEDCT:12402003 SNOMEDCT:275322007 + UMLS:C5554042 SCAR Scar - scarring severe cutaneous adverse reaction EFO:0006346 severe cutaneous adverse reaction @@ -246100,8 +246069,8 @@ Use: http://purl.obolibrary.org/obo/CHEBI_22676 - A permanent mark left on the skin in the process of wound healing. - NCIT:P378 + 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). + PMID:29445753 @@ -246112,37 +246081,16 @@ Use: http://purl.obolibrary.org/obo/CHEBI_22676 - NCIT:C34483 - EFO:0006346 - MONDO:equivalentTo - MONDO:otherHierarchy - - - - - SCTID:275322007 - EFO:0006346 + UMLS:C5554042 MONDO:equivalentTo SCAR - NCIT:C34483 + PMID:29445753 - - - - Scar - NCIT:C34483 - - - - - scarring - NCIT:C34483 - @@ -268472,6 +268420,7 @@ her lifetime + A disorder characterized by the deposition of amyloid in the wall of the vessels in the brain. @@ -271221,6 +271170,7 @@ ISBN 978-1-60327-285-8 + @@ -290341,6 +290291,7 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= + DOID:13767 ICD10CM:B66.1 ICD9:121.1 @@ -290348,6 +290299,7 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql=MONDO:0005705 MeSH:D003003 MedDRA:10009344 + Orphanet:658917 SCTID:11938002 UMLS:C0009021 Clonorchiasis @@ -290401,6 +290353,12 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql=EFO:0007210 MONDO:equivalentTo + + + + Orphanet:658917 + MONDO:equivalentTo + @@ -291606,7 +291564,7 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= - + @@ -301684,7 +301642,7 @@ 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. Individuals with G6PD variants that cause G6PD deficiency are at risk for acute hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans. + 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. Individuals with G6PD variants that cause G6PD deficiency are at risk for 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 @@ -301727,8 +301685,8 @@ Label : Hemophilia A - 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. Individuals with G6PD variants that cause G6PD deficiency are at risk for acute hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans. - https://www.clinicalgenome.org/affiliation/40026 + 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. Individuals with G6PD variants that cause G6PD deficiency are at risk for 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. + https://www.clinicalgenome.org/affiliation/50147/ @@ -320997,6 +320955,7 @@ Label : Leg-Calvé-Perthes disease + DOID:10699 ICD10CM:B66.4 ICD9:121.2 @@ -321005,6 +320964,7 @@ Label : Leg-Calvé-Perthes disease MeSH:D010237 MedDRA:10033794 NCIT:C84995 + Orphanet:658913 SCTID:30369007 UMLS:C0030424 Infection by Paragonimus (disorder) @@ -321075,6 +321035,12 @@ Label : Leg-Calvé-Perthes disease DOID:10699 MONDO:equivalentTo + + + + Orphanet:658913 + MONDO:equivalentTo + @@ -354878,6 +354844,7 @@ label: granulocyte colony-stimulating factor measurement + A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist. Neurofibromatosis, which was first described in 1882 by Von Recklinghausen, is a genetic disease characterized by a neuroectodermal abnormality and by clinical manifestations of systemic and progressive involvement which mainly affect the skin, nervous system, bones, eyes and possibly other organs. Laura Huerta @@ -357361,7 +357328,7 @@ label: granulocyte colony-stimulating factor measurement breast phyllodes tumor, malignant - MONDO:patterns/malignant + MONDO:patterns/malignant @@ -372330,7 +372297,6 @@ label: granulocyte colony-stimulating factor measurement - @@ -372634,7 +372600,6 @@ label: granulocyte colony-stimulating factor measurement - Cessation of menstruation before the age of 40. Symptoms include hot flashes, night sweats, mood swings, and decreased sex drive. The loss of normal function of the ovaries before age 40. Zoe May Pendlington @@ -372643,7 +372608,7 @@ label: granulocyte colony-stimulating factor measurement - DOID:10787 + DOID:10787 ICD9:256.31 ICD9:256.39 MESH:D008594 @@ -372667,13 +372632,6 @@ label: granulocyte colony-stimulating factor measurement premature menopause - - - - - DOID:10787 - NCIT:C80099 - @@ -372683,27 +372641,27 @@ label: granulocyte colony-stimulating factor measurement - DOID:10787 + DOID:10787 MONDO:equivalentTo ICD9:256.31 - DOID:10787 + DOID:10787 MESH:D008594 - DOID:10787 + DOID:10787 MONDO:equivalentTo NCIT:C80099 - DOID:10787 + DOID:10787 MONDO:equivalentTo @@ -372716,7 +372674,7 @@ label: granulocyte colony-stimulating factor measurement UMLS:C0025322 - DOID:10787 + DOID:10787 MONDO:equivalentTo NCIT:C80099 @@ -372737,13 +372695,13 @@ label: granulocyte colony-stimulating factor measurement menopause - premature - DOID:10787 + DOID:10787 menopause praecox - DOID:10787 + DOID:10787 @@ -373510,6 +373468,7 @@ label: granulocyte colony-stimulating factor measurement + @@ -373521,6 +373480,7 @@ label: granulocyte colony-stimulating factor measurementMONDO:0019165 MedDRA:10073186 OMIMPS:176400 + Orphanet:650063 Orphanet:759 SCTID:237816004 UMLS:C0342543 @@ -373589,6 +373549,12 @@ label: granulocyte colony-stimulating factor measurementOMIMPS:176400 MONDO:equivalentTo + + + + Orphanet:650063 + MONDO:equivalentTo + @@ -375427,8 +375393,7 @@ Use: http://purl.obolibrary.org/obo/MONDO_0019289 - - + Neurodevelopmental disorder associated with the MBD5 gene. Hannah McLaren mbd5 associated neurodevelopmental disorder @@ -379390,7 +379355,7 @@ It allows sampling of specific cells under direct microscopic visualization. A f - + @@ -379434,12 +379399,6 @@ It allows sampling of specific cells under direct microscopic visualization. A f myopic macular degeneration - - - - - https://orcid.org/0000-0002-5002-8648 - @@ -384532,14 +384491,14 @@ to hypernasality and abnormal speech reduction. GARD:16281 MONDO:0060714 OMIM:617993 - tumoral calcinosis, hyperphosphatemic, familial, 2 + tumoral calcinosis, hyperphosphatemic, familial, 2 HFTC2 - tumoral calcinosis, hyperphosphatemic, familial, 2 + tumoral calcinosis, hyperphosphatemic, familial, 2 EFO:0009383 - tumoral calcinosis, hyperphosphatemic, familial, 2 + tumoral calcinosis, hyperphosphatemic, familial, 2 @@ -384563,19 +384522,19 @@ to hypernasality and abnormal speech reduction. - tumoral calcinosis, hyperphosphatemic, familial, 2 + tumoral calcinosis, hyperphosphatemic, familial, 2 OMIM:617993 - tumoral calcinosis, hyperphosphatemic, familial, 2 + tumoral calcinosis, hyperphosphatemic, familial, 2 Mondo preferred label 15.08.2021. - tumoral calcinosis, hyperphosphatemic, familial, 2 + tumoral calcinosis, hyperphosphatemic, familial, 2 preferred label from MONDO @@ -384588,7 +384547,7 @@ to hypernasality and abnormal speech reduction. - tumoral calcinosis, hyperphosphatemic, familial, 2 + tumoral calcinosis, hyperphosphatemic, familial, 2 OMIM:617993 @@ -408428,7 +408387,7 @@ Also see: https://github.com/EBISPOT/efo/issues/913 - + An autosomal recessive neurodevelopmental disorder characterized by developmental regression in infancy, delayed psychomotor development, severe intellectual disability, and cerebral and cerebellar atrophy. Additional features include swallowing problems, dystonia, bradykinesia, and continuous manual stereotypies without chorea. Some patients manifest seizures. @@ -437811,12 +437770,16 @@ Use: http://purl.obolibrary.org/obo/CL_0009024 - + The determination of the amount of prostate-specific antigen in a sample Annalisa Buniello + http://purl.obolibrary.org/obo/OBA_2050200 true + 3.64.0 + Duplication PMID:28240269 - prostate-specific antigen measurement + obsolete_prostate-specific antigen measurement + true @@ -471496,6 +471459,25 @@ Smart-seq3 is a continuation and improvement of the Smart-seq technology, specif + + + + + A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation. + Zoe May Pendlington + 2024-03-08T09:27:59Z + SNOMED:248280005 + aging + + + + + A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation. + GO:0007568 + + + + @@ -477443,6 +477425,7 @@ Smart-seq3 is a continuation and improvement of the Smart-seq technology, specif + 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 CRYAB-related myofobrillar myopathy @@ -529904,7 +529887,7 @@ A syndrome typically consisting of angina (cardiac chest pain) at rest that occu ependymoma, benign - MONDO:patterns/benign + MONDO:patterns/benign @@ -529935,7 +529918,7 @@ A syndrome typically consisting of angina (cardiac chest pain) at rest that occu ependymoma, benign - MONDO:patterns/benign + MONDO:patterns/benign @@ -536922,6 +536905,7 @@ Label : Disorder of carbohydrate metabolism + @@ -539189,19 +539173,19 @@ Label : Disorder of carbohydrate metabolism grade 1 neuroendocrine neoplasm of vermiform appendix - MONDO:patterns/neuroendocrine_neoplasm_grade1 + MONDO:patterns/neuroendocrine_neoplasm_grade1 vermiform appendix NET G1 - MONDO:patterns/neuroendocrine_neoplasm_grade1 + MONDO:patterns/neuroendocrine_neoplasm_grade1 vermiform appendix carcinoid tumor - MONDO:patterns/neuroendocrine_neoplasm_grade1 + MONDO:patterns/neuroendocrine_neoplasm_grade1 @@ -539225,7 +539209,7 @@ Label : Disorder of carbohydrate metabolism vermiform appendix neuroendocrine tumor, well differentiated, low grade - MONDO:patterns/neuroendocrine_neoplasm_grade1 + MONDO:patterns/neuroendocrine_neoplasm_grade1 @@ -539448,14 +539432,14 @@ Label : Disorder of carbohydrate metabolism ascending colon NET G1 - MONDO:patterns/neuroendocrine_neoplasm_grade1 + MONDO:patterns/neuroendocrine_neoplasm_grade1 NCIT:C6427 ascending colon carcinoid tumor - MONDO:patterns/neuroendocrine_neoplasm_grade1 + MONDO:patterns/neuroendocrine_neoplasm_grade1 NCIT:C6427 @@ -539498,7 +539482,7 @@ Label : Disorder of carbohydrate metabolism ascending colon neuroendocrine tumor, well differentiated, low grade - MONDO:patterns/neuroendocrine_neoplasm_grade1 + MONDO:patterns/neuroendocrine_neoplasm_grade1 @@ -539528,7 +539512,7 @@ Label : Disorder of carbohydrate metabolism grade 1 neuroendocrine neoplasm of ascending colon - MONDO:patterns/neuroendocrine_neoplasm_grade1 + MONDO:patterns/neuroendocrine_neoplasm_grade1 @@ -540927,7 +540911,7 @@ Label : Disorder of carbohydrate metabolism adrenal gland pheochromocytoma, benign - MONDO:patterns/benign + MONDO:patterns/benign @@ -541195,7 +541179,7 @@ Label : Disorder of carbohydrate metabolism carotid body paraganglioma, benign - MONDO:patterns/benign + MONDO:patterns/benign @@ -542605,7 +542589,7 @@ Label : Disorder of carbohydrate metabolism malignant biphasic mesothelioma, malignant - MONDO:patterns/malignant + MONDO:patterns/malignant @@ -545596,9 +545580,9 @@ Label : Disorder of carbohydrate metabolism - + @@ -546521,13 +546505,13 @@ Label : Disorder of carbohydrate metabolism caecum NET G1 - MONDO:patterns/neuroendocrine_neoplasm_grade1 + MONDO:patterns/neuroendocrine_neoplasm_grade1 caecum carcinoid tumor - MONDO:patterns/neuroendocrine_neoplasm_grade1 + MONDO:patterns/neuroendocrine_neoplasm_grade1 NCIT:C5501 @@ -546552,7 +546536,7 @@ Label : Disorder of carbohydrate metabolism caecum neuroendocrine tumor, well differentiated, low grade - MONDO:patterns/neuroendocrine_neoplasm_grade1 + MONDO:patterns/neuroendocrine_neoplasm_grade1 @@ -546630,7 +546614,7 @@ Label : Disorder of carbohydrate metabolism grade 1 neuroendocrine neoplasm of caecum - MONDO:patterns/neuroendocrine_neoplasm_grade1 + MONDO:patterns/neuroendocrine_neoplasm_grade1 @@ -546959,6 +546943,7 @@ Label : Disorder of carbohydrate metabolism + @@ -550194,6 +550179,7 @@ Label : Disorder of carbohydrate metabolism + @@ -551684,14 +551670,14 @@ Label : Disorder of carbohydrate metabolism colon NET G1 - MONDO:patterns/neuroendocrine_neoplasm_grade1 + MONDO:patterns/neuroendocrine_neoplasm_grade1 NCIT:C5497 colon carcinoid tumor - MONDO:patterns/neuroendocrine_neoplasm_grade1 + MONDO:patterns/neuroendocrine_neoplasm_grade1 NCIT:C5497 @@ -551734,7 +551720,7 @@ Label : Disorder of carbohydrate metabolism colon neuroendocrine tumor, well differentiated, low grade - MONDO:patterns/neuroendocrine_neoplasm_grade1 + MONDO:patterns/neuroendocrine_neoplasm_grade1 @@ -551752,7 +551738,7 @@ Label : Disorder of carbohydrate metabolism grade 1 neuroendocrine neoplasm of colon - MONDO:patterns/neuroendocrine_neoplasm_grade1 + MONDO:patterns/neuroendocrine_neoplasm_grade1 @@ -552665,13 +552651,13 @@ Label : Disorder of carbohydrate metabolism colorectum NET G1 - MONDO:patterns/neuroendocrine_neoplasm_grade1 + MONDO:patterns/neuroendocrine_neoplasm_grade1 colorectum carcinoid tumor - MONDO:patterns/neuroendocrine_neoplasm_grade1 + MONDO:patterns/neuroendocrine_neoplasm_grade1 @@ -552683,13 +552669,13 @@ Label : Disorder of carbohydrate metabolism colorectum neuroendocrine tumor, well differentiated, low grade - MONDO:patterns/neuroendocrine_neoplasm_grade1 + MONDO:patterns/neuroendocrine_neoplasm_grade1 grade 1 neuroendocrine neoplasm of colorectum - MONDO:patterns/neuroendocrine_neoplasm_grade1 + MONDO:patterns/neuroendocrine_neoplasm_grade1 @@ -562627,19 +562613,19 @@ Label : Disorder of carbohydrate metabolism grade 1 neuroendocrine neoplasm of stomach - MONDO:patterns/neuroendocrine_neoplasm_grade1 + MONDO:patterns/neuroendocrine_neoplasm_grade1 stomach NET G1 - MONDO:patterns/neuroendocrine_neoplasm_grade1 + MONDO:patterns/neuroendocrine_neoplasm_grade1 stomach carcinoid tumor - MONDO:patterns/neuroendocrine_neoplasm_grade1 + MONDO:patterns/neuroendocrine_neoplasm_grade1 @@ -562651,7 +562637,7 @@ Label : Disorder of carbohydrate metabolism stomach neuroendocrine tumor, well differentiated, low grade - MONDO:patterns/neuroendocrine_neoplasm_grade1 + MONDO:patterns/neuroendocrine_neoplasm_grade1 @@ -566576,7 +566562,7 @@ Label : Disorder of carbohydrate metabolism grade 1 neuroendocrine neoplasm of ileum - MONDO:patterns/neuroendocrine_neoplasm_grade1 + MONDO:patterns/neuroendocrine_neoplasm_grade1 @@ -566618,13 +566604,13 @@ Label : Disorder of carbohydrate metabolism ileum NET G1 - MONDO:patterns/neuroendocrine_neoplasm_grade1 + MONDO:patterns/neuroendocrine_neoplasm_grade1 ileum carcinoid tumor - MONDO:patterns/neuroendocrine_neoplasm_grade1 + MONDO:patterns/neuroendocrine_neoplasm_grade1 @@ -566648,7 +566634,7 @@ Label : Disorder of carbohydrate metabolism ileum neuroendocrine tumor, well differentiated, low grade - MONDO:patterns/neuroendocrine_neoplasm_grade1 + MONDO:patterns/neuroendocrine_neoplasm_grade1 @@ -567570,7 +567556,7 @@ Label : Disorder of carbohydrate metabolism grade 1 neuroendocrine neoplasm of jejunum - MONDO:patterns/neuroendocrine_neoplasm_grade1 + MONDO:patterns/neuroendocrine_neoplasm_grade1 @@ -567606,13 +567592,13 @@ Label : Disorder of carbohydrate metabolism jejunum NET G1 - MONDO:patterns/neuroendocrine_neoplasm_grade1 + MONDO:patterns/neuroendocrine_neoplasm_grade1 jejunum carcinoid tumor - MONDO:patterns/neuroendocrine_neoplasm_grade1 + MONDO:patterns/neuroendocrine_neoplasm_grade1 @@ -567636,7 +567622,7 @@ Label : Disorder of carbohydrate metabolism jejunum neuroendocrine tumor, well differentiated, low grade - MONDO:patterns/neuroendocrine_neoplasm_grade1 + MONDO:patterns/neuroendocrine_neoplasm_grade1 @@ -573525,7 +573511,7 @@ Label : Disorder of carbohydrate metabolism adrenal gland pheochromocytoma, malignant - MONDO:patterns/malignant + MONDO:patterns/malignant @@ -574053,7 +574039,7 @@ Label : malignant epithelioid mesothelioma germ cell tumor, malignant - MONDO:patterns/malignant + MONDO:patterns/malignant @@ -574925,7 +574911,7 @@ Label : malignant epithelioid mesothelioma mesothelioma, malignant MONDO:Lexical - MONDO:patterns/malignant + MONDO:patterns/malignant NCIT:C4456 OMIM:156240 @@ -575187,7 +575173,7 @@ Label : malignant epithelioid mesothelioma mixed neoplasm, malignant - MONDO:patterns/malignant + MONDO:patterns/malignant @@ -576546,7 +576532,7 @@ Label : malignant epithelioid mesothelioma mediastinal germ cell tumor, malignant - MONDO:patterns/malignant + MONDO:patterns/malignant @@ -585997,7 +585983,7 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma - + A benign or malignant neoplasm arising from paraganglia located along the sympathetic or parasympathetic nerves. Infrequently, it may arise outside the usual distribution of the sympathetic and parasympathetic paraganglia. Tumors arising from the adrenal gland medulla are called pheochromocytomas. Morphologically, paragangliomas usually display a nesting (Zellballen) growth pattern. There are no reliable morphologic criteria to distinguish between benign and malignant paragangliomas. The only definitive indicator of malignancy is the presence of regional or distant metastases. https://github.com/monarch-initiative/mondo/issues/6877 @@ -586054,12 +586040,6 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma Wikipedia:Neurocristopathy - - - - - https://orcid.org/0000-0002-5002-8648 - @@ -591627,7 +591607,7 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma pleural mesothelioma (disease), benign - MONDO:patterns/benign + MONDO:patterns/benign @@ -599166,6 +599146,7 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma + @@ -602363,12 +602344,6 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinomaEFO:1000560 MONDO:equivalentTo - - - - NCIT:C70649 - MONDO:equivalentObsolete - @@ -612607,7 +612582,6 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma - A usually indolent mature B-cell lymphoma, arising from the marginal zone of lymphoid tissues. It is characterized by the presence of small to medium sized atypical lymphocytes. It comprises three entities, according to the anatomic sites involved: extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue, which affects extranodal sites (most often stomach, lung, skin, and ocular adnexa); nodal marginal zone B-cell lymphoma, which affects lymph nodes without evidence of extranodal disease; and splenic marginal zone B-cell lymphoma, which affects the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood. @@ -614255,6 +614229,7 @@ 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 @@ -615203,7 +615178,7 @@ These disorders are common in people of all ages and races. They are characteriz childhood neoplasm, malignant - MONDO:patterns/malignant + MONDO:patterns/malignant @@ -620576,7 +620551,7 @@ Use: Orphanet_464 Label: Incontinentia pigmenti - Fox-Fordyce disease isa chronic skin diseasemost 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 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 @@ -620617,7 +620592,7 @@ Use: Orphanet_464 Label: Incontinentia pigmenti - Fox-Fordyce disease isa chronic skin diseasemost 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 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. https://rarediseases.info.nih.gov/diseases/6462/fox-fordyce-disease @@ -632765,7 +632740,7 @@ Ankle osteoarthritis is least common and may cause your heel to move to an unusu - + Small breaks in the elastin-filled tissue of the retina. Dani Welter @@ -632788,12 +632763,6 @@ Ankle osteoarthritis is least common and may cause your heel to move to an unusu EFO:1000805 angioid streaks - - - - - https://orcid.org/0000-0001-5208-3432 - @@ -635002,7 +634971,7 @@ Ankle osteoarthritis is least common and may cause your heel to move to an unusu - + Developmental abnormalities in any portion of the ATRIAL SEPTUM resulting in abnormal communications between the two upper chambers of the heart. Classification of atrial septal defects is based on location of the communication and types of incomplete fusion of atrial septa with the ENDOCARDIAL CUSHIONS in the fetal heart. They include ostium primum, ostium secundum, sinus venosus, and coronary sinus defects. Interauricular communication is a congenital malformation characterized by a communication between the atrial chambers of the heart. Sirarat Sarntivijai @@ -649725,7 +649694,7 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 - + An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with PAROTID NEOPLASMS, or following their surgical removal. (From Ann Neurol 1997 Dec;42(6):973-5) An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with parotid neoplasms, or following their surgical removal. (From Ann Neurol 1997 Dec;42(6):973-5) @@ -649756,12 +649725,6 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 EFO:1000940 Frey Syndrome - - - - - https://orcid.org/0000-0001-5208-3432 - @@ -653232,6 +653195,8 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 Abnormal enlargement of the eye Congenital open-angle glaucoma that results from dysgenesis of the angle structures accompanied by increased intraocular pressure and enlargement of the eye. Treatment is both medical and surgical. Sirarat Sarntivijai + https://github.com/monarch-initiative/mondo/issues/7282 + 2024-05-01 DOID:11212 @@ -653244,7 +653209,9 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 hydrophthalmos EFO:1000968 + + Reason: duplicate. This will be merged with MONDO:0020366 congenital glaucoma hydrophthalmos @@ -658345,8 +658312,8 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 - + A syndrome characterized by the onset of isolated language dysfunction in otherwise normal children (age of onset 4-7 years) and epileptiform discharges on ELECTROENCEPHALOGRAPHY. Seizures, including atypical absence (EPILEPSY, ABSENCE), complex partial (EPILEPSY, COMPLEX PARTIAL), and other types may occur. The electroencephalographic abnormalities and seizures tend to resolve by puberty. The language disorder may also resolve although some individuals are left with severe language dysfunction, including APHASIA and auditory AGNOSIA. (From Menkes, Textbook of Child Neurology, 5th ed, pp749-50; J Child Neurol 1997 Nov;12(8):489-495) Landau-Kleffner syndrome (LKS) is a rare neurological syndrome characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and recurrent seizures (epilepsy). Children with LKS typically develop normally until signs and symptoms of the syndrome begin to develop between age 2 and 8 years. Males are more often affected by LKS than females. In about 20% of people with LKS, mutations (changes) in the GRIN2A gene have been identified. The syndrome is inherited in an autosomal dominant manner. In other cases, the syndrome may be caused by changes to other unidentified genes. LKS is diagnosed when a doctor sees clinical features that are consistent with the syndrome such as a loss of speech and an electroencephalogram (EEG) that shows specific kinds of seizure activity. Genetic testing can be used to confirm if there is a mutation in GRIN2A, but this testing is not done routinely. Treatment for LKS usually consists of medications such as anticonvulsants and corticosteroids to help prevent seizures. Speech therapy should also be started promptly in order to ensure the best long-term outlook for children with LKS. Sirarat Sarntivijai @@ -662712,6 +662679,7 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 + A fulminant infection of the meninges and subarachnoid fluid by the bacterium NEISSERIA MENINGITIDIS, producing diffuse inflammation and peri-meningeal venous thromboses. Clinical manifestations include FEVER, nuchal rigidity, SEIZURES, severe HEADACHE, petechial rash, stupor, focal neurologic deficits, HYDROCEPHALUS, and COMA. The organism is usually transmitted via nasopharyngeal secretions and is a leading cause of meningitis in children and young adults. Organisms from Neisseria meningitidis serogroups A, B, C, Y, and W-135 have been reported to cause meningitis. (From Adams et al., Principles of Neurology, 6th ed, pp689-701; Curr Opin Pediatr 1998 Feb;10(1):13-8) An acute bacterial disease caused by Neisseria meningitides that presents usually, but not always, with a rash (non blanching petechial or purpuric rash), progressively developing signs of meningitis (fever, vomiting, headache, photophobia, and neck stiffness) and later leading to confusion, delirium and drowsiness. Neck stiffness and photophobia are often absent in infants and young children who may manifest nonspecific signs such as irritability, inconsolable crying, poor feeding, and a bulging fontanel. Meningococcal meningitis may also present as part of early or late onset sepsis in neonates. The disease is potentially fatal. Surviving patients may develop neurological sequelae that include sensorineural hearing loss, seizures, spasticity, attention deficits and intellectual disability. @@ -662752,6 +662720,13 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 meningococcal meningitis + + + + + ICD10CM:A39.0 + https://orcid.org/0000-0001-5208-3432 + @@ -669046,7 +669021,7 @@ Label: Moebius syndrome pulmonary sulcus neoplasm, malignant - MONDO:patterns/malignant + MONDO:patterns/malignant @@ -684262,6 +684237,7 @@ Label : Sea-blue histiocytosis + @@ -686739,7 +686715,7 @@ Label : Sea-blue histiocytosis - + @@ -709917,6 +709893,7 @@ Pain Agnosia, also known as analgesia, is related to chronic pain requiring intr + Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations. @@ -711235,7 +711212,7 @@ Pain Agnosia, also known as analgesia, is related to chronic pain requiring intr - + A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors. Dani Welter @@ -718039,7 +718016,7 @@ Pain Agnosia, also known as analgesia, is related to chronic pain requiring intr - + @@ -721753,7 +721730,7 @@ 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. @@ -721783,12 +721760,6 @@ It is caused by a number of types of infection such as bacteria, viruses, parasi EFO:1001918 specific phobia - - - - - https://orcid.org/0000-0001-5208-3432 - @@ -721968,6 +721939,7 @@ It is caused by a number of types of infection such as bacteria, viruses, parasi + @@ -722263,7 +722235,7 @@ It is caused by a number of types of infection such as bacteria, viruses, parasi neuroendocrine neoplasm of small intestine MONDO:design_pattern - MONDO:patterns/neuroendocrine_neoplasm + MONDO:patterns/neuroendocrine_neoplasm @@ -722293,7 +722265,7 @@ It is caused by a number of types of infection such as bacteria, viruses, parasi small intestine NET - MONDO:patterns/neuroendocrine_neoplasm + MONDO:patterns/neuroendocrine_neoplasm @@ -722319,13 +722291,13 @@ It is caused by a number of types of infection such as bacteria, viruses, parasi small intestine neuroendocrine tumor DOID:4434 - MONDO:patterns/neuroendocrine_neoplasm + MONDO:patterns/neuroendocrine_neoplasm small intestine neuroendocrine tumor, well differentiated, low or intermediate grade - MONDO:patterns/neuroendocrine_neoplasm + MONDO:patterns/neuroendocrine_neoplasm @@ -722349,7 +722321,7 @@ It is caused by a number of types of infection such as bacteria, viruses, parasi small intestine neuroendocrine tumor, well differentiated, low or intermediate grade - MONDO:patterns/neuroendocrine_neoplasm + MONDO:patterns/neuroendocrine_neoplasm diff --git a/src/ontology/components/mondo_efo_import.owl b/src/ontology/components/mondo_efo_import.owl index 2f05a947..444a7538 100644 --- a/src/ontology/components/mondo_efo_import.owl +++ b/src/ontology/components/mondo_efo_import.owl @@ -8302,6 +8302,7 @@ Declaration(Class(obo:MONDO_0020788)) Declaration(Class(obo:MONDO_0020794)) Declaration(Class(obo:MONDO_0020795)) Declaration(Class(obo:MONDO_0020798)) +Declaration(Class(obo:MONDO_0020800)) Declaration(Class(obo:MONDO_0020803)) Declaration(Class(obo:MONDO_0020811)) Declaration(Class(obo:MONDO_0020820)) @@ -9980,6 +9981,11 @@ Declaration(Class(obo:MONDO_0100524)) Declaration(Class(obo:MONDO_0100526)) Declaration(Class(obo:MONDO_0100530)) Declaration(Class(obo:MONDO_0100534)) +Declaration(Class(obo:MONDO_0100541)) +Declaration(Class(obo:MONDO_0100545)) +Declaration(Class(obo:MONDO_0100546)) +Declaration(Class(obo:MONDO_0100547)) +Declaration(Class(obo:MONDO_0100548)) Declaration(Class(obo:MONDO_0600001)) Declaration(Class(obo:MONDO_0600002)) Declaration(Class(obo:MONDO_0600003)) @@ -10294,6 +10300,7 @@ Declaration(Class(obo:MONDO_0859571)) Declaration(Class(obo:MONDO_0859575)) Declaration(Class(obo:MONDO_0859576)) Declaration(Class(obo:MONDO_0859578)) +Declaration(Class(obo:MONDO_0859689)) Declaration(Class(obo:MONDO_0957048)) Declaration(Class(obo:MONDO_0957097)) Declaration(Class(obo:MONDO_0957204)) @@ -13835,7 +13842,7 @@ AnnotationAssertion(mondo:exactMatch obo:MONDO_0000137 ) +SubClassOf(obo:MONDO_0000137 obo:MONDO_0100545) SubClassOf(obo:MONDO_0000137 ) # Class: obo:MONDO_0000141 (mosaic variegated aneuploidy syndrome) @@ -14009,7 +14016,7 @@ AnnotationAssertion(oboInOwl:id obo:MONDO_0000166 "MONDO:0000166"^^xsd:string) AnnotationAssertion(rdfs:label obo:MONDO_0000166 "encephalopathy, acute, infection-induced"^^xsd:string) SubClassOf(obo:MONDO_0000166 obo:MONDO_0020683) SubClassOf(obo:MONDO_0000166 obo:MONDO_0021669) -SubClassOf(obo:MONDO_0000166 ) +SubClassOf(obo:MONDO_0000166 obo:MONDO_0100545) SubClassOf(obo:MONDO_0000166 ) # Class: obo:MONDO_0000167 (Huntington disease and related disorders) @@ -14199,9 +14206,9 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0000188 mondo:inferred_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0000188 mondo:rare) AnnotationAssertion(rdfs:comment obo:MONDO_0000188 "Editor note: note that in contrast to other phenotypic series, all members are caused by the same gene, SLC2A1"^^xsd:string) AnnotationAssertion(rdfs:label obo:MONDO_0000188 "GLUT1 deficiency syndrome"^^xsd:string) -SubClassOf(obo:MONDO_0000188 obo:MONDO_0015653) SubClassOf(obo:MONDO_0000188 obo:MONDO_0019226) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-8486-0558"^^xsd:string) obo:MONDO_0000188 obo:MONDO_0100033) +SubClassOf(obo:MONDO_0000188 obo:MONDO_0100545) # Class: obo:MONDO_0000192 (polyglucosan body myopathy) @@ -15429,7 +15436,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0000453 mondo:prototype_pattern) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0000453 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0000453 "short QT syndrome"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "DOID:0050793"^^xsd:string) obo:MONDO_0000453 obo:MONDO_0000992) -SubClassOf(obo:MONDO_0000453 ) +SubClassOf(obo:MONDO_0000453 obo:MONDO_0100547) # Class: obo:MONDO_0000455 (cone dystrophy) @@ -15484,11 +15491,11 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:79172"^^xsd:string) obo AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0000456 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0000456 "cerebral creatine deficiency syndrome"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "DOID:0050798"^^xsd:string) Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) obo:MONDO_0000456 obo:MONDO_0004736) -SubClassOf(obo:MONDO_0000456 obo:MONDO_0015653) SubClassOf(obo:MONDO_0000456 obo:MONDO_0019189) SubClassOf(Annotation(oboInOwl:source "Orphanet:79172"^^xsd:string) obo:MONDO_0000456 obo:MONDO_0019243) SubClassOf(obo:MONDO_0000456 obo:MONDO_0045022) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-8486-0558"^^xsd:string) obo:MONDO_0000456 obo:MONDO_0100033) +SubClassOf(obo:MONDO_0000456 obo:MONDO_0100545) # Class: obo:MONDO_0000461 (nutritional biotin deficiency) @@ -15564,6 +15571,7 @@ AnnotationAssertion(oboInOwl:id obo:MONDO_0000465 "MONDO:0000465"^^xsd:string) AnnotationAssertion(rdfs:label obo:MONDO_0000465 "atrioventricular block"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "DOID:0050820"^^xsd:string) obo:MONDO_0000465 obo:MONDO_0000992) SubClassOf(Annotation(oboInOwl:source "MESH:D054537"^^xsd:string) obo:MONDO_0000465 obo:MONDO_0008848) +SubClassOf(obo:MONDO_0000465 obo:MONDO_0100547) # Class: obo:MONDO_0000468 (third-degree atrioventricular block) @@ -15779,6 +15787,7 @@ SubClassOf(Annotation(oboInOwl:source "DOID:0050842"^^xsd:string) Annotation(obo # Class: obo:MONDO_0000485 (spasmodic dystonia) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "https://rarediseases.org/rare-diseases/laryngeal-dystonia/"^^xsd:string) obo:IAO_0000115 obo:MONDO_0000485 "A chronic voice disorder characterized by momentary periods of uncontrolled spasms of the muscles of the larynx."^^xsd:string) +AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0000485 "https://github.com/monarch-initiative/mondo/issues/7187"^^xsd:anyURI) AnnotationAssertion(mondo:exactMatch obo:MONDO_0000485 ) AnnotationAssertion(mondo:exactMatch obo:MONDO_0000485 ) AnnotationAssertion(mondo:exactMatch obo:MONDO_0000485 ) @@ -15799,6 +15808,7 @@ AnnotationAssertion(Annotation(oboInOwl:hasDbXref "GARD:0007668"^^xsd:string) ob AnnotationAssertion(oboInOwl:id obo:MONDO_0000485 "MONDO:0000485"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:93961"^^xsd:string) oboInOwl:inSubset obo:MONDO_0000485 mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0000485 mondo:rare) +AnnotationAssertion(rdfs:comment obo:MONDO_0000485 "As discussed in https://github.com/monarch-initiative/mondo/issues/7187, this term was determined to be an actual disease and not a phenotype."^^xsd:string) AnnotationAssertion(rdfs:label obo:MONDO_0000485 "spasmodic dystonia"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "DOID:0050844"^^xsd:string) Annotation(oboInOwl:source "Wikipedia:Dystonia"^^xsd:string) obo:MONDO_0000485 obo:MONDO_0000477) SubClassOf(obo:MONDO_0000485 ) @@ -17024,6 +17034,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0000698 "gamma-amino butyric acid metab SubClassOf(Annotation(oboInOwl:source "DOID:0060176"^^xsd:string) Annotation(oboInOwl:source "MONDO:Entailed"^^xsd:string) obo:MONDO_0000698 obo:MONDO_0004736) SubClassOf(obo:MONDO_0000698 obo:MONDO_0019189) SubClassOf(obo:MONDO_0000698 obo:MONDO_0037871) +SubClassOf(obo:MONDO_0000698 obo:MONDO_0045022) # Class: obo:MONDO_0000700 (familial hemiplegic migraine) @@ -17049,7 +17060,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0000700 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0000700 "familial hemiplegic migraine"^^xsd:string) EquivalentClasses(obo:MONDO_0000700 ObjectIntersectionOf(obo:MONDO_0018925 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021152))) SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "MONDO:cjm"^^xsd:string) obo:MONDO_0000700 obo:MONDO_0018925) -SubClassOf(obo:MONDO_0000700 ) +SubClassOf(obo:MONDO_0000700 obo:MONDO_0100545) DisjointClasses(obo:MONDO_0000700 obo:MONDO_0020757) # Class: obo:MONDO_0000701 (ischemic colitis) @@ -17146,7 +17157,7 @@ AnnotationAssertion(rdfs:comment obo:MONDO_0000723 "Editor note: check this; con AnnotationAssertion(rdfs:label obo:MONDO_0000723 "stutter disorder"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "DOID:0060243/inferred"^^xsd:string) obo:MONDO_0000723 obo:MONDO_0004730) SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "NCIT:C35043"^^xsd:string) obo:MONDO_0000723 obo:MONDO_0004750) -SubClassOf(obo:MONDO_0000723 ) +SubClassOf(obo:MONDO_0000723 obo:MONDO_0100545) # Class: obo:MONDO_0000726 (idiopathic scoliosis) @@ -17430,7 +17441,7 @@ AnnotationAssertion(Annotation(oboInOwl:hasDbXref "NCIT:C84560"^^xsd:string) obo AnnotationAssertion(oboInOwl:id obo:MONDO_0000819 "MONDO:0000819"^^xsd:string) AnnotationAssertion(rdfs:label obo:MONDO_0000819 "anencephaly"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "DOID:0060668"^^xsd:string) obo:MONDO_0000819 obo:MONDO_0002320) -SubClassOf(obo:MONDO_0000819 ) +SubClassOf(obo:MONDO_0000819 obo:MONDO_0100545) # Class: obo:MONDO_0000820 (cerebral cavernous malformation) @@ -17951,7 +17962,7 @@ AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIMPS:614039"^^xsd:string) o AnnotationAssertion(oboInOwl:id obo:MONDO_0000904 "MONDO:0000904"^^xsd:string) AnnotationAssertion(rdfs:label obo:MONDO_0000904 "complex cortical dysplasia with other brain malformations"^^xsd:string) SubClassOf(obo:MONDO_0000904 obo:MONDO_0021147) -SubClassOf(obo:MONDO_0000904 ) +SubClassOf(obo:MONDO_0000904 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "DOID:0090131"^^xsd:string) obo:MONDO_0000904 ) # Class: obo:MONDO_0000916 (intestinal infectious disease) @@ -18387,6 +18398,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "GARD:0006422"^^xsd:string) rdfs: EquivalentClasses(obo:MONDO_0000995 ObjectIntersectionOf(obo:MONDO_0016122 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021152))) SubClassOf(Annotation(oboInOwl:source "DOID:1029"^^xsd:string) Annotation(oboInOwl:source "MESH:D010245"^^xsd:string) obo:MONDO_0000995 obo:MONDO_0004689) SubClassOf(obo:MONDO_0000995 obo:MONDO_0016122) +SubClassOf(obo:MONDO_0000995 obo:MONDO_0100545) # Class: obo:MONDO_0001014 (chronic leukemia) @@ -20480,7 +20492,7 @@ AnnotationAssertion(Annotation(oboInOwl:hasDbXref "DOID:12028"^^xsd:string) Anno AnnotationAssertion(oboInOwl:id obo:MONDO_0001422 "MONDO:0001422"^^xsd:string) AnnotationAssertion(rdfs:comment obo:MONDO_0001422 "Editor note: DOID class refers to adenoma-caused Conn syndrome"^^xsd:string) AnnotationAssertion(rdfs:label obo:MONDO_0001422 "primary aldosteronism"^^xsd:string) -SubClassOf(obo:MONDO_0001422 ) +SubClassOf(Annotation(oboInOwl:source "ICD10CM:E26.0"^^xsd:string) Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) obo:MONDO_0001422 ) # Class: obo:MONDO_0001423 (drug-induced mental disorder) @@ -22081,6 +22093,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0001734 "tuberous sclerosis"^^xsd:strin SubClassOf(Annotation(oboInOwl:source "DOID:13515"^^xsd:string) obo:MONDO_0001734 obo:MONDO_0000426) SubClassOf(Annotation(oboInOwl:source "MESH:D014402"^^xsd:string) Annotation(oboInOwl:source "NCIT:C3424/inferred"^^xsd:string) obo:MONDO_0001734 obo:MONDO_0015356) SubClassOf(Annotation(oboInOwl:source "MESH:D014402"^^xsd:string) Annotation(oboInOwl:source "NCIT:C3424"^^xsd:string) Annotation(oboInOwl:source "https://www.hopkinsmedicine.org"^^xsd:string) obo:MONDO_0001734 obo:MONDO_0042983) +SubClassOf(obo:MONDO_0001734 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "MESH:D014402"^^xsd:string) obo:MONDO_0001734 ObjectSomeValuesFrom(obo:RO_0004029 )) # Class: obo:MONDO_0001744 (angle-closure glaucoma) @@ -23007,6 +23020,8 @@ SubClassOf(Annotation(oboInOwl:source "DOID:14559"^^xsd:string) Annotation(oboIn AnnotationAssertion(Annotation(oboInOwl:hasDbXref "NCIT:C3307"^^xsd:string) obo:IAO_0000115 obo:MONDO_0002003 "Swelling around the optic disk, usually due to increased intracranial pressure or pressure on the optic nerve by a tumor."^^xsd:string) AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0002003 "https://github.com/monarch-initiative/mondo/issues/5537"^^xsd:anyURI) +AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0002003 "https://github.com/monarch-initiative/mondo/issues/7279"^^xsd:anyURI) +AnnotationAssertion(obo:IAO_0006012 obo:MONDO_0002003 "2024-05-01"^^xsd:string) AnnotationAssertion(mondo:exactMatch obo:MONDO_0002003 ) AnnotationAssertion(mondo:exactMatch obo:MONDO_0002003 ) AnnotationAssertion(mondo:exactMatch obo:MONDO_0002003 obo:DOID_146) @@ -23026,7 +23041,9 @@ AnnotationAssertion(Annotation(oboInOwl:hasDbXref "GARD:0007318"^^xsd:string) ob AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003005) oboInOwl:hasRelatedSynonym obo:MONDO_0002003 "oedema of the optic disc"^^xsd:string) AnnotationAssertion(oboInOwl:id obo:MONDO_0002003 "MONDO:0002003"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:NORD"^^xsd:string) oboInOwl:inSubset obo:MONDO_0002003 mondo:nord_rare) +AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0002003 mondo:obsoletion_candidate) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0002003 mondo:rare) +AnnotationAssertion(rdfs:comment obo:MONDO_0002003 "Reason: duplicate. This will be merged with MONDO:0006879 optic papillitis"^^xsd:string) AnnotationAssertion(rdfs:label obo:MONDO_0002003 "papilledema"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "GARD:0007318"^^xsd:string) rdfs:seeAlso obo:MONDO_0002003 "https://rarediseases.info.nih.gov/diseases/7318/papilledema"^^xsd:anyURI) SubClassOf(Annotation(oboInOwl:source "DOID:146"^^xsd:string) Annotation(oboInOwl:source "MESH:D010211"^^xsd:string) obo:MONDO_0002003 obo:MONDO_0002135) @@ -23620,7 +23637,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:1480"^^xsd:string) oboI AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0002070 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0002070 "ventricular septal defect"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "DOID:1657"^^xsd:string) Annotation(oboInOwl:source "MESH:D006345"^^xsd:string) obo:MONDO_0002070 obo:MONDO_0002078) -SubClassOf(obo:MONDO_0002070 ) +SubClassOf(obo:MONDO_0002070 obo:MONDO_0100547) # Class: obo:MONDO_0002071 (supratentorial cancer) @@ -24072,8 +24089,9 @@ SubClassOf(Annotation(oboInOwl:source "DOID:182"^^xsd:string) Annotation(oboInOw AnnotationAssertion(Annotation(oboInOwl:hasDbXref "https://orcid.org/0000-0002-6601-2165"^^xsd:string) obo:IAO_0000115 obo:MONDO_0002132 "A malignant neoplasm involving the skull."^^xsd:string) AnnotationAssertion(mondo:exactMatch obo:MONDO_0002132 obo:DOID_1863) +AnnotationAssertion(mondo:exactMatch obo:MONDO_0002132 obo:NCIT_C155790) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0002132 "DOID:1863"^^xsd:string) -AnnotationAssertion(Annotation(oboInOwl:source "DOID:1863"^^xsd:string) Annotation(oboInOwl:source "MONDO:relatedTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0002132 "NCIT:C3375"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) Annotation(oboInOwl:source "https://orcid.org/0009-0001-6494-4831"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0002132 "NCIT:C155790"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "DOID:1863"^^xsd:string) Annotation(oboInOwl:source "MONDO:relatedTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0002132 "SCTID:126538005"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "DOID:1863"^^xsd:string) Annotation(oboInOwl:source "MONDO:relatedTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0002132 "UMLS:C0037305"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:patterns/cancer"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0002132 "cancer of skull"^^xsd:string) @@ -24083,6 +24101,7 @@ AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:patterns/location"^^xsd AnnotationAssertion(oboInOwl:id obo:MONDO_0002132 "MONDO:0002132"^^xsd:string) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0002132 mondo:inferred_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0002132 mondo:rare) +AnnotationAssertion(rdfs:comment obo:MONDO_0002132 "editors note: NCIT:C155790 refers to malignant tumors of the pituitary, tumors located in the sellar region and maxillofaciale tumors; MONDO:0002132 additionally refers to mandibular and orbital tumors as well as tumors of the paranasal sinus."^^xsd:string) AnnotationAssertion(rdfs:label obo:MONDO_0002132 "skull cancer"^^xsd:string) SubClassOf(obo:MONDO_0002132 obo:MONDO_0024653) SubClassOf(obo:MONDO_0002132 ) @@ -26459,6 +26478,7 @@ SubClassOf(obo:MONDO_0002402 obo:MONDO_0004992) # Class: obo:MONDO_0002404 (liver hemangioma) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "NCIT:C3869"^^xsd:string) obo:IAO_0000115 obo:MONDO_0002404 "A hemangioma arising from the liver."^^xsd:string) +AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0002404 "https://github.com/monarch-initiative/mondo/issues/7300"^^xsd:anyURI) AnnotationAssertion(mondo:exactMatch obo:MONDO_0002404 ) AnnotationAssertion(mondo:exactMatch obo:MONDO_0002404 ) AnnotationAssertion(mondo:exactMatch obo:MONDO_0002404 obo:DOID_271) @@ -26477,10 +26497,10 @@ AnnotationAssertion(Annotation(oboInOwl:hasDbXref "NCIT:C3869"^^xsd:string) oboI AnnotationAssertion(Annotation(oboInOwl:hasDbXref "NCIT:C3869"^^xsd:string) oboInOwl:hasRelatedSynonym obo:MONDO_0002404 "liver angioma"^^xsd:string) AnnotationAssertion(oboInOwl:id obo:MONDO_0002404 "MONDO:0002404"^^xsd:string) AnnotationAssertion(rdfs:label obo:MONDO_0002404 "liver hemangioma"^^xsd:string) -SubClassOf(Annotation(oboInOwl:source "MONDO:Entailed"^^xsd:string) Annotation(oboInOwl:source "NCIT:C3869/inferred"^^xsd:string) obo:MONDO_0002404 obo:MONDO_0000385) SubClassOf(obo:MONDO_0002404 obo:MONDO_0000627) SubClassOf(Annotation(oboInOwl:source "DOID:271"^^xsd:string) Annotation(oboInOwl:source "NCIT:C3869"^^xsd:string) obo:MONDO_0002404 obo:MONDO_0002337) SubClassOf(obo:MONDO_0002404 obo:MONDO_0024477) +SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-8134-3037"^^xsd:string) obo:MONDO_0002404 obo:MONDO_0859689) # Class: obo:MONDO_0002405 (hepatic vascular disorder) @@ -26939,7 +26959,6 @@ AnnotationAssertion(Annotation(oboInOwl:source "DOID:2834"^^xsd:string) Annotati AnnotationAssertion(Annotation(oboInOwl:source "DOID:2834"^^xsd:string) Annotation(oboInOwl:source "MONDO:directSiblingOf"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0002438 "UMLS:C1318533"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:patterns/acquired"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0002438 "acquired polycythemia"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:patterns/acquired"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0002438 "acquired polycythemia (disease)"^^xsd:string) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "DOID:2834"^^xsd:string) oboInOwl:hasRelatedSynonym obo:MONDO_0002438 "polycythemia, secondary"^^xsd:string) AnnotationAssertion(oboInOwl:id obo:MONDO_0002438 "MONDO:0002438"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:NORD"^^xsd:string) oboInOwl:inSubset obo:MONDO_0002438 mondo:nord_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0002438 mondo:rare) @@ -33641,7 +33660,7 @@ AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MESH:D020821"^^xsd:string) ob AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MESH:D020821"^^xsd:string) oboInOwl:hasRelatedSynonym obo:MONDO_0003441 "dystonia disorders"^^xsd:string) AnnotationAssertion(oboInOwl:id obo:MONDO_0003441 "MONDO:0003441"^^xsd:string) AnnotationAssertion(rdfs:label obo:MONDO_0003441 "dystonic disorder"^^xsd:string) -SubClassOf(Annotation(oboInOwl:source "DOID:543"^^xsd:string) Annotation(oboInOwl:source "MESH:D020821"^^xsd:string) Annotation(oboInOwl:source "NCIT:C34563"^^xsd:string) obo:MONDO_0003441 ) +SubClassOf(Annotation(oboInOwl:source "ICD10CM:G24"^^xsd:string) Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) obo:MONDO_0003441 obo:MONDO_0001815) # Class: obo:MONDO_0003443 (papillary urothelial neoplasm) @@ -37263,13 +37282,17 @@ SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation( AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:patterns/congenital"^^xsd:string) obo:IAO_0000115 obo:MONDO_0004527 "An instance of granular cell tumor that is present from birth."^^xsd:string) AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0004527 "https://github.com/monarch-initiative/mondo/issues/4069"^^xsd:anyURI) +AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0004527 "https://github.com/monarch-initiative/mondo/issues/7284"^^xsd:anyURI) +AnnotationAssertion(obo:IAO_0006012 obo:MONDO_0004527 "2024-05-01"^^xsd:string) AnnotationAssertion(mondo:exactMatch obo:MONDO_0004527 obo:DOID_8303) AnnotationAssertion(Annotation(oboInOwl:source "DOID:8303"^^xsd:string) Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) mondo:excluded_subClassOf obo:MONDO_0004527 obo:MONDO_0002616) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0004527 "DOID:8303"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:patterns/congenital"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0004527 "congenital granular cell tumor"^^xsd:string) AnnotationAssertion(oboInOwl:id obo:MONDO_0004527 "MONDO:0004527"^^xsd:string) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0004527 mondo:inferred_rare) +AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0004527 mondo:obsoletion_candidate) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0004527 mondo:rare) +AnnotationAssertion(rdfs:comment obo:MONDO_0004527 "Reason: duplicate. This will be merged with MONDO:0015528 congenital epulis"^^xsd:string) AnnotationAssertion(rdfs:label obo:MONDO_0004527 "congenital granular cell tumor"^^xsd:string) EquivalentClasses(obo:MONDO_0004527 ObjectIntersectionOf( ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021140))) SubClassOf(obo:MONDO_0004527 obo:MONDO_0002320) @@ -37528,6 +37551,8 @@ SubClassOf(obo:MONDO_0004586 ObjectSomeValuesFrom(obo:RO_0004022 ) AnnotationAssertion(mondo:exactMatch obo:MONDO_0004587 obo:DOID_8498) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "DOID:8498"^^xsd:string) oboInOwl:hasBroadSynonym obo:MONDO_0004587 "Oguchi's disease"^^xsd:string) @@ -37538,10 +37563,12 @@ AnnotationAssertion(Annotation(oboInOwl:source "DOID:8498"^^xsd:string) Annotati AnnotationAssertion(Annotation(oboInOwl:hasDbXref "DOID:8498"^^xsd:string) Annotation(oboInOwl:hasDbXref "ICD9CM:368.61"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0004587 "congenital night blindness"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:patterns/hereditary"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0004587 "hereditary night blindness"^^xsd:string) AnnotationAssertion(oboInOwl:id obo:MONDO_0004587 "MONDO:0004587"^^xsd:string) +AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0004587 mondo:obsoletion_candidate) +AnnotationAssertion(rdfs:comment obo:MONDO_0004587 "Reason: duplicate. This will be merged with MONDO:0019152 Oguchi disease"^^xsd:string) AnnotationAssertion(rdfs:label obo:MONDO_0004587 "hereditary night blindness"^^xsd:string) EquivalentClasses(obo:MONDO_0004587 ObjectIntersectionOf(obo:MONDO_0004588 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021152))) SubClassOf(Annotation(oboInOwl:source "DOID:8498"^^xsd:string) Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) obo:MONDO_0004587 obo:MONDO_0004588) -SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) obo:MONDO_0004587 ) +SubClassOf(obo:MONDO_0004587 obo:MONDO_0100545) # Class: obo:MONDO_0004588 (night blindness) @@ -39735,7 +39762,7 @@ AnnotationAssertion(rdfs:comment obo:MONDO_0004933 "prototype_pattern"^^xsd:stri AnnotationAssertion(rdfs:label obo:MONDO_0004933 "hypoplastic left heart syndrome"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "NCIT:C98894"^^xsd:string) obo:MONDO_0004933 obo:MONDO_0002254) SubClassOf(Annotation(oboInOwl:source "Orphanet:2248"^^xsd:string) obo:MONDO_0004933 obo:MONDO_0019820) -SubClassOf(obo:MONDO_0004933 ) +SubClassOf(obo:MONDO_0004933 obo:MONDO_0100547) SubClassOf(Annotation(oboInOwl:source "DOID:9955"^^xsd:string) Annotation(oboInOwl:source "MESH:D018636"^^xsd:string) obo:MONDO_0004933 ) SubClassOf(obo:MONDO_0004933 ) @@ -40209,6 +40236,7 @@ SubClassOf(Annotation(oboInOwl:source "DOID:83"^^xsd:string) Annotation(oboInOwl # Class: obo:MONDO_0005147 (type 1 diabetes mellitus) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "NCIT:C2986"^^xsd:string) obo:IAO_0000115 obo:MONDO_0005147 "A chronic condition characterized by minimal or absent production of insulin by the pancreas."^^xsd:string) +AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0005147 "https://github.com/monarch-initiative/mondo/issues/7275"^^xsd:anyURI) AnnotationAssertion(mondo:exactMatch obo:MONDO_0005147 ) AnnotationAssertion(mondo:exactMatch obo:MONDO_0005147 ) AnnotationAssertion(mondo:exactMatch obo:MONDO_0005147 obo:DOID_9744) @@ -40222,6 +40250,8 @@ AnnotationAssertion(Annotation(oboInOwl:source "DOID:9744"^^xsd:string) Annotati AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentObsolete"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0005147 "Orphanet:243377"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "DOID:9744"^^xsd:string) Annotation(oboInOwl:source "EFO:0001359"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0005147 "SCTID:46635009"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "DOID:9744"^^xsd:string) Annotation(oboInOwl:hasSynonymType mondo:DEPRECATED) oboInOwl:hasExactSynonym obo:MONDO_0005147 "IDDM"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "https://orcid.org/0000-0002-4071-8397"^^xsd:string) Annotation(oboInOwl:hasSynonymType mondo:ABBREVIATION) oboInOwl:hasExactSynonym obo:MONDO_0005147 "T1D"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "https://orcid.org/0000-0002-4071-8397"^^xsd:string) Annotation(oboInOwl:hasSynonymType mondo:ABBREVIATION) oboInOwl:hasExactSynonym obo:MONDO_0005147 "T1DM"^^xsd:string) AnnotationAssertion(oboInOwl:hasExactSynonym obo:MONDO_0005147 "diabetes mellitis type 1"^^xsd:string) AnnotationAssertion(oboInOwl:hasExactSynonym obo:MONDO_0005147 "diabetes mellitis type I"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "NCIT:C2986"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0005147 "immune mediated diabetes"^^xsd:string) @@ -40244,6 +40274,7 @@ SubClassOf(obo:MONDO_0005147 ObjectSomeValuesFrom(mondo:disease_causes_feature < AnnotationAssertion(Annotation(oboInOwl:hasDbXref "NCIT:P378"^^xsd:string) obo:IAO_0000115 obo:MONDO_0005148 "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."^^xsd:string) AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0005148 "https://github.com/monarch-initiative/mondo/issues/4521"^^xsd:anyURI) +AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0005148 "https://github.com/monarch-initiative/mondo/issues/7275"^^xsd:anyURI) AnnotationAssertion(mondo:exactMatch obo:MONDO_0005148 ) AnnotationAssertion(mondo:exactMatch obo:MONDO_0005148 ) AnnotationAssertion(mondo:exactMatch obo:MONDO_0005148 ) @@ -40258,6 +40289,8 @@ AnnotationAssertion(Annotation(oboInOwl:source "DOID:9352"^^xsd:string) Annotati AnnotationAssertion(Annotation(oboInOwl:source "DOID:9352"^^xsd:string) Annotation(oboInOwl:source "EFO:0001360"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0005148 "SCTID:44054006"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "DOID:9352"^^xsd:string) Annotation(oboInOwl:source "MONDO:MEDGEN"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) Annotation(oboInOwl:source "MONDO:ncbi_mim2gene_medline"^^xsd:string) Annotation(oboInOwl:source "MONDO:notFoundInDiseaseSubset"^^xsd:string) Annotation(oboInOwl:source "NCIT:C26747"^^xsd:string) Annotation(oboInOwl:source "OMIM:125853"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0005148 "UMLS:C0011860"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "DOID:9352"^^xsd:string) Annotation(oboInOwl:hasDbXref "MONDO:Lexical"^^xsd:string) Annotation(oboInOwl:hasDbXref "NCIT:C26747"^^xsd:string) Annotation(oboInOwl:hasDbXref "OMIM:125853"^^xsd:string) Annotation(oboInOwl:hasSynonymType mondo:DEPRECATED) oboInOwl:hasExactSynonym obo:MONDO_0005148 "NIDDM"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "https://orcid.org/0000-0002-4071-8397"^^xsd:string) Annotation(oboInOwl:hasSynonymType mondo:ABBREVIATION) oboInOwl:hasExactSynonym obo:MONDO_0005148 "T2D"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "https://orcid.org/0000-0002-4071-8397"^^xsd:string) Annotation(oboInOwl:hasSynonymType mondo:ABBREVIATION) oboInOwl:hasExactSynonym obo:MONDO_0005148 "T2DM"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "NCIT:C26747"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0005148 "T2DM - type 2 diabetes mellitus"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "NCIT:C26747"^^xsd:string) Annotation(oboInOwl:hasSynonymType mondo:DEPRECATED) oboInOwl:hasExactSynonym obo:MONDO_0005148 "adult onset diabetes"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "NCIT:C26747"^^xsd:string) Annotation(oboInOwl:hasSynonymType mondo:DEPRECATED) oboInOwl:hasExactSynonym obo:MONDO_0005148 "adult-onset diabetes"^^xsd:string) @@ -40369,7 +40402,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:319705"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0005180 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0005180 "Parkinson disease"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "MESH:D010300"^^xsd:string) obo:MONDO_0005180 obo:MONDO_0021095) -SubClassOf(obo:MONDO_0005180 ) +SubClassOf(obo:MONDO_0005180 obo:MONDO_0100545) # Class: obo:MONDO_0005184 (pancreatic ductal adenocarcinoma) @@ -40552,7 +40585,7 @@ AnnotationAssertion(oboInOwl:id obo:MONDO_0005301 "MONDO:0005301"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:802"^^xsd:string) oboInOwl:inSubset obo:MONDO_0005301 mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0005301 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0005301 "multiple sclerosis"^^xsd:string) -SubClassOf(Annotation(oboInOwl:source "DOID:2377"^^xsd:string) Annotation(oboInOwl:source "ICD10CM:G35"^^xsd:string) Annotation(oboInOwl:source "MESH:D009103/inferred"^^xsd:string) obo:MONDO_0005301 obo:MONDO_0002562) +SubClassOf(Annotation(oboInOwl:source "ICD10CM:G35"^^xsd:string) Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) obo:MONDO_0005301 obo:MONDO_0020800) SubClassOf(Annotation(oboInOwl:source "MESH:D009103/inferred"^^xsd:string) Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) obo:MONDO_0005301 ) SubClassOf(obo:MONDO_0005301 ) SubClassOf(Annotation(oboInOwl:source "MESH:D009103"^^xsd:string) obo:MONDO_0005301 ) @@ -42864,8 +42897,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:72"^^xsd:string) oboInO AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0007113 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0007113 "Angelman syndrome"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "NCIT:C75462"^^xsd:string) obo:MONDO_0007113 obo:MONDO_0002254) -SubClassOf(obo:MONDO_0007113 ) -SubClassOf(Annotation(oboInOwl:source "MONDO:0020016-obsoleted"^^xsd:string) obo:MONDO_0007113 ) +SubClassOf(obo:MONDO_0007113 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "MONDO:0015955"^^xsd:string) Annotation(oboInOwl:source "MONDO:0015983"^^xsd:string) obo:MONDO_0007113 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021136)) # Class: obo:MONDO_0007114 (Angel-shaped phalango-epiphyseal dysplasia) @@ -43944,6 +43976,7 @@ SubClassOf(Annotation(oboInOwl:source "DOID:2512"^^xsd:string) Annotation(oboInO SubClassOf(Annotation(oboInOwl:source "NCIT:C2892/inferred"^^xsd:string) Annotation(oboInOwl:source "Orphanet:377"^^xsd:string) obo:MONDO_0007187 obo:MONDO_0015356) SubClassOf(obo:MONDO_0007187 obo:MONDO_0019755) SubClassOf(Annotation(oboInOwl:source "NCIT:C2892"^^xsd:string) Annotation(oboInOwl:source "Wikipedia:Phakomatosis"^^xsd:string) obo:MONDO_0007187 obo:MONDO_0042983) +SubClassOf(obo:MONDO_0007187 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "Orphanet:377"^^xsd:string) obo:MONDO_0007187 ObjectSomeValuesFrom(obo:RO_0004029 obo:MONDO_0020175)) # Class: obo:MONDO_0007188 (primary basilar invagination) @@ -43997,7 +44030,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:402075"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0007194 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0007194 "familial bicuspid aortic valve"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-4142-7153"^^xsd:string) obo:MONDO_0007194 obo:MONDO_0021147) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-5002-8648"^^xsd:string) obo:MONDO_0007194 ) +SubClassOf(obo:MONDO_0007194 obo:MONDO_0100547) SubClassOf(Annotation(oboInOwl:source "DOID:0080332"^^xsd:string) Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "OMIM:109730"^^xsd:string) obo:MONDO_0007194 ) SubClassOf(obo:MONDO_0007194 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021136)) @@ -46071,6 +46104,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0007316 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0007316 "Chiari malformation type I"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "DC-OMIM:118420"^^xsd:string) obo:MONDO_0007316 obo:MONDO_0000115) SubClassOf(Annotation(oboInOwl:source "MONDO:0017085-obsoleted"^^xsd:string) Annotation(oboInOwl:source "https://github.com/monarch-initiative/mondo/pull/2571/"^^xsd:string) obo:MONDO_0007316 obo:MONDO_0018075) +SubClassOf(obo:MONDO_0007316 obo:MONDO_0100545) # Class: obo:MONDO_0007318 (Alagille syndrome) @@ -46116,8 +46150,7 @@ AnnotationAssertion(rdfs:comment obo:MONDO_0007318 "This term's classification w AnnotationAssertion(rdfs:label obo:MONDO_0007318 "Alagille syndrome"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "NCIT:C35139"^^xsd:string) Annotation(oboInOwl:source "PMID:21934706"^^xsd:string) Annotation(oboInOwl:source "https://orcid.org/0000-0002-5002-8648"^^xsd:string) obo:MONDO_0007318 obo:MONDO_0002254) SubClassOf(Annotation(oboInOwl:source "Orphanet:52"^^xsd:string) obo:MONDO_0007318 obo:MONDO_0015161) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-5002-8648"^^xsd:string) obo:MONDO_0007318 ) -SubClassOf(Annotation(oboInOwl:source "MONDO:0015506-obsoleted"^^xsd:string) obo:MONDO_0007318 ) +SubClassOf(obo:MONDO_0007318 obo:MONDO_0100547) SubClassOf(Annotation(oboInOwl:source "MONDO:0020222-obsoleted"^^xsd:string) obo:MONDO_0007318 ) SubClassOf(Annotation(oboInOwl:source "Orphanet:52"^^xsd:string) obo:MONDO_0007318 ) SubClassOf(Annotation(oboInOwl:source "MONDO:0015116"^^xsd:string) obo:MONDO_0007318 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021136)) @@ -46769,7 +46802,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0007354 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0007354 "coloboma of optic nerve"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "DC-OMIM:120430"^^xsd:string) Annotation(oboInOwl:source "MESH:C535970"^^xsd:string) Annotation(oboInOwl:source "Orphanet:98947"^^xsd:string) obo:MONDO_0007354 obo:MONDO_0001476) SubClassOf(Annotation(oboInOwl:source "DOID:11975"^^xsd:string) obo:MONDO_0007354 obo:MONDO_0001834) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) obo:MONDO_0007354 ) +SubClassOf(obo:MONDO_0007354 obo:MONDO_0100545) # Class: obo:MONDO_0007355 (uveal coloboma-cleft lip and palate-intellectual disability) @@ -47490,6 +47523,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0007401 "craniosynostosis-Dandy-Walker AnnotationAssertion(Annotation(oboInOwl:source "GARD:0001592"^^xsd:string) rdfs:seeAlso obo:MONDO_0007401 "https://rarediseases.info.nih.gov/diseases/1592/dandy-walker-malformation-with-sagittal-craniosynostosis-and-hydrocephalus"^^xsd:anyURI) SubClassOf(Annotation(oboInOwl:source "Orphanet:1538"^^xsd:string) obo:MONDO_0007401 obo:MONDO_0015704) SubClassOf(obo:MONDO_0007401 obo:MONDO_0020022) +SubClassOf(obo:MONDO_0007401 obo:MONDO_0100545) SubClassOf(obo:MONDO_0007401 ) SubClassOf(obo:MONDO_0007401 ObjectSomeValuesFrom(mondo:disease_has_major_feature obo:MONDO_0020022)) @@ -48392,6 +48426,7 @@ SubClassOf(Annotation(oboInOwl:source "DC-OMIM:125700"^^xsd:string) Annotation(o SubClassOf(obo:MONDO_0007450 obo:MONDO_0015127) SubClassOf(obo:MONDO_0007450 obo:MONDO_0100070) SubClassOf(obo:MONDO_0007450 obo:MONDO_0100191) +SubClassOf(obo:MONDO_0007450 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "DOID:12388"^^xsd:string) Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) obo:MONDO_0007450 ) # Class: obo:MONDO_0007451 (diabetes insipidus, nephrogenic, autosomal) @@ -48558,7 +48593,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0007473 "Duane retraction syndrome"^^xs AnnotationAssertion(Annotation(oboInOwl:source "GARD:0006288"^^xsd:string) rdfs:seeAlso obo:MONDO_0007473 "https://rarediseases.info.nih.gov/diseases/6288/duane-syndrome"^^xsd:anyURI) SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "MONDO:cjm"^^xsd:string) Annotation(oboInOwl:source "NCIT:C84678"^^xsd:string) obo:MONDO_0007473 obo:MONDO_0002254) SubClassOf(Annotation(oboInOwl:source "Orphanet:233"^^xsd:string) obo:MONDO_0007473 obo:MONDO_0015083) -SubClassOf(obo:MONDO_0007473 ) +SubClassOf(obo:MONDO_0007473 obo:MONDO_0100545) # Class: obo:MONDO_0007476 (familial Dupuytren contracture) @@ -49565,7 +49600,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:2789"^^xsd:string) oboI AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0007537 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0007537 "lateral meningocele syndrome"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "MONDO:0017085-obsoleted"^^xsd:string) Annotation(oboInOwl:source "https://github.com/monarch-initiative/mondo/pull/2571/"^^xsd:string) obo:MONDO_0007537 obo:MONDO_0018075) -SubClassOf(obo:MONDO_0007537 ) +SubClassOf(obo:MONDO_0007537 obo:MONDO_0100545) # Class: obo:MONDO_0007538 (amelogenesis imperfecta, type 3A) @@ -50947,7 +50982,7 @@ EquivalentClasses(obo:MONDO_0007626 ObjectIntersectionOf(obo:MONDO_0001146 Objec SubClassOf(obo:MONDO_0007626 obo:MONDO_0001146) SubClassOf(obo:MONDO_0007626 obo:MONDO_0002320) SubClassOf(Annotation(oboInOwl:source "Orphanet:91498"^^xsd:string) Annotation(oboInOwl:source "Orphanet:91498/inferred"^^xsd:string) obo:MONDO_0007626 obo:MONDO_0015083) -SubClassOf(obo:MONDO_0007626 ) +SubClassOf(obo:MONDO_0007626 obo:MONDO_0100545) # Class: obo:MONDO_0007627 (focal facial dermal dysplasia type I) @@ -51400,7 +51435,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:356"^^xsd:string) oboIn AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0007656 mondo:rare) AnnotationAssertion(rdfs:comment obo:MONDO_0007656 "Editor note: MESH considers as two diseases"^^xsd:string) AnnotationAssertion(rdfs:label obo:MONDO_0007656 "Gerstmann-Straussler-Scheinker syndrome"^^xsd:string) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-5002-8648"^^xsd:string) obo:MONDO_0007656 ) +SubClassOf(obo:MONDO_0007656 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "DOID:4249"^^xsd:string) Annotation(oboInOwl:source "MESH:C535800"^^xsd:string) Annotation(oboInOwl:source "MESH:D016098"^^xsd:string) Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "MONDO:indirect"^^xsd:string) Annotation(oboInOwl:source "https://orcid.org/0000-0002-4142-7153"^^xsd:string) obo:MONDO_0007656 ) # Class: obo:MONDO_0007664 (glaucoma 1, open angle, A) @@ -51818,6 +51853,7 @@ SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation( SubClassOf(obo:MONDO_0007688 obo:MONDO_0002320) SubClassOf(Annotation(oboInOwl:source "Orphanet:2588"^^xsd:string) obo:MONDO_0007688 obo:MONDO_0015159) SubClassOf(Annotation(oboInOwl:source "Orphanet:2588"^^xsd:string) Annotation(oboInOwl:source "PMID:31633310"^^xsd:string) obo:MONDO_0007688 obo:MONDO_0019695) +SubClassOf(obo:MONDO_0007688 obo:MONDO_0100545) # Class: obo:MONDO_0007690 (aromatase excess syndrome) @@ -52355,7 +52391,7 @@ SubClassOf(Annotation(oboInOwl:source "DOID:0060468"^^xsd:string) Annotation(obo SubClassOf(Annotation(oboInOwl:source "Orphanet:392"^^xsd:string) obo:MONDO_0007732 obo:MONDO_0015161) SubClassOf(Annotation(oboInOwl:source "Orphanet:392"^^xsd:string) obo:MONDO_0007732 obo:MONDO_0016432) SubClassOf(Annotation(oboInOwl:source "PMID:31633310"^^xsd:string) obo:MONDO_0007732 obo:MONDO_0019713) -SubClassOf(Annotation(oboInOwl:source "MONDO:0015506-obsoleted"^^xsd:string) obo:MONDO_0007732 ) +SubClassOf(obo:MONDO_0007732 obo:MONDO_0100547) # Class: obo:MONDO_0007733 (holoprosencephaly 3) @@ -54341,7 +54377,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "GARD:0000082"^^xsd:string) rdfs: SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "Orphanet:2332"^^xsd:string) Annotation(oboInOwl:source "https://clinicalgenome.org/affiliation/40060/"^^xsd:string) obo:MONDO_0007846 obo:MONDO_0000508) SubClassOf(obo:MONDO_0007846 obo:MONDO_0002320) SubClassOf(Annotation(oboInOwl:source "Orphanet:2332"^^xsd:string) obo:MONDO_0007846 obo:MONDO_0015159) -SubClassOf(obo:MONDO_0007846 ) +SubClassOf(obo:MONDO_0007846 obo:MONDO_0100545) # Class: obo:MONDO_0007848 (autosomal dominant keratitis) @@ -54379,9 +54415,11 @@ SubClassOf(Annotation(oboInOwl:source "MESH:C537022"^^xsd:string) Annotation(obo AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0007849 "https://github.com/monarch-initiative/mondo/issues/4521"^^xsd:anyURI) AnnotationAssertion(mondo:exactMatch obo:MONDO_0007849 ) AnnotationAssertion(mondo:exactMatch obo:MONDO_0007849 ) +AnnotationAssertion(mondo:exactMatch obo:MONDO_0007849 obo:Orphanet_647815) AnnotationAssertion(mondo:exactMatch obo:MONDO_0007849 ) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0007849 "MESH:C563650"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0007849 "OMIM:148200"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0007849 "Orphanet:647815"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) Annotation(oboInOwl:source "MONDO:ncbi_mim2gene_medline"^^xsd:string) Annotation(oboInOwl:source "OMIM:148200"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0007849 "UMLS:C1835697"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:148200"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0007849 "keratitis fugax hereditaria"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:647815"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0007849 "keratoendotheliitis fugax hereditaria"^^xsd:string) @@ -58472,6 +58510,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "GARD:0010291"^^xsd:string) rdfs: SubClassOf(obo:MONDO_0008097 obo:MONDO_0019755) SubClassOf(Annotation(oboInOwl:source "Orphanet:2612"^^xsd:string) obo:MONDO_0008097 obo:MONDO_0020179) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-5002-8648"^^xsd:string) obo:MONDO_0008097 obo:MONDO_0100118) +SubClassOf(obo:MONDO_0008097 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "NCIT:C4678"^^xsd:string) obo:MONDO_0008097 ) # Class: obo:MONDO_0008098 (mesomelic dwarfism, Nievergelt type) @@ -58538,8 +58577,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:1647"^^xsd:string) oboI AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0008108 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0008108 "oculocerebrocutaneous syndrome"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "GARD:0000106"^^xsd:string) rdfs:seeAlso obo:MONDO_0008108 "https://rarediseases.info.nih.gov/diseases/106/oculocerebrocutaneous-syndrome"^^xsd:anyURI) -SubClassOf(Annotation(oboInOwl:source "GARD:0000106"^^xsd:string) Annotation(oboInOwl:source "OMIM:164180"^^xsd:string) Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) obo:MONDO_0008108 ) -SubClassOf(Annotation(oboInOwl:source "GARD:0000106"^^xsd:string) obo:MONDO_0008108 ) +SubClassOf(obo:MONDO_0008108 obo:MONDO_0100545) # Class: obo:MONDO_0008111 (oculodentodigital dysplasia) @@ -58958,13 +58996,14 @@ AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0008136 "https://github.com/monarc AnnotationAssertion(mondo:exactMatch obo:MONDO_0008136 ) AnnotationAssertion(mondo:exactMatch obo:MONDO_0008136 ) AnnotationAssertion(mondo:exactMatch obo:MONDO_0008136 obo:DOID_0111531) -AnnotationAssertion(mondo:exactMatch obo:MONDO_0008136 obo:Orphanet_137902) +AnnotationAssertion(mondo:exactMatch obo:MONDO_0008136 obo:Orphanet_637061) AnnotationAssertion(mondo:exactMatch obo:MONDO_0008136 ) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0008136 "DOID:0111531"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:137902"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0008136 "GARD:8419"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:NORD"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0008136 "NORD:1528"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) Annotation(oboInOwl:source "Orphanet:137902"^^xsd:string) Annotation(oboInOwl:source "Orphanet:137902/e"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0008136 "OMIM:165550"^^xsd:string) -AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) Annotation(oboInOwl:source "OMIM:165550"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0008136 "Orphanet:137902"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentObsolete"^^xsd:string) Annotation(oboInOwl:source "OMIM:165550"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0008136 "Orphanet:137902"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0008136 "Orphanet:637061"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0008136 "SCTID:724999003"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:MEDGEN"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) Annotation(oboInOwl:source "MONDO:ncbi_mim2gene_medline"^^xsd:string) Annotation(oboInOwl:source "OMIM:165550"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0008136 "UMLS:C1833797"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "GARD:0008419"^^xsd:string) oboInOwl:hasRelatedSynonym obo:MONDO_0008136 "familial bilateral optic nerve hypoplasia"^^xsd:string) @@ -59813,8 +59852,8 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:46348"^^xsd:string) obo AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0008179 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0008179 "paroxysmal extreme pain disorder"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "GARD:0012854"^^xsd:string) rdfs:seeAlso obo:MONDO_0008179 "https://rarediseases.info.nih.gov/diseases/12854/paroxysmal-extreme-pain-disorder"^^xsd:anyURI) +SubClassOf(obo:MONDO_0008179 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) obo:MONDO_0008179 obo:MONDO_0700057) -SubClassOf(obo:MONDO_0008179 ) # Class: obo:MONDO_0008182 (nasopalpebral lipoma-coloboma syndrome) @@ -60121,7 +60160,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0008201 "Perry syndrome"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "GARD:0010453"^^xsd:string) rdfs:seeAlso obo:MONDO_0008201 "https://rarediseases.info.nih.gov/diseases/10453/perry-syndrome"^^xsd:anyURI) SubClassOf(Annotation(oboInOwl:source "DOID:0060486"^^xsd:string) obo:MONDO_0008201 obo:MONDO_0002254) SubClassOf(Annotation(oboInOwl:source "MONDO:0017661-obsoleted"^^xsd:string) obo:MONDO_0008201 obo:MONDO_0021095) -SubClassOf(obo:MONDO_0008201 ) +SubClassOf(obo:MONDO_0008201 obo:MONDO_0100545) # Class: obo:MONDO_0008205 (patella aplasia/hypoplasia) @@ -60245,7 +60284,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0008209 "Char syndrome"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "GARD:0001237"^^xsd:string) rdfs:seeAlso obo:MONDO_0008209 "https://rarediseases.info.nih.gov/diseases/1237/char-syndrome"^^xsd:anyURI) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) obo:MONDO_0008209 obo:MONDO_0002254) SubClassOf(Annotation(oboInOwl:source "Orphanet:46627"^^xsd:string) obo:MONDO_0008209 obo:MONDO_0015160) -SubClassOf(obo:MONDO_0008209 ) +SubClassOf(obo:MONDO_0008209 obo:MONDO_0100547) SubClassOf(obo:MONDO_0008209 ) SubClassOf(obo:MONDO_0008209 ) @@ -60486,6 +60525,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0008222 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0008222 "Andersen-Tawil syndrome"^^xsd:string) SubClassOf(obo:MONDO_0008222 obo:MONDO_0000995) SubClassOf(obo:MONDO_0008222 obo:MONDO_0019171) +SubClassOf(obo:MONDO_0008222 obo:MONDO_0100546) SubClassOf(Annotation(oboInOwl:source "Orphanet:37553"^^xsd:string) obo:MONDO_0008222 ) # Class: obo:MONDO_0008223 (hypokalemic periodic paralysis) @@ -62470,7 +62510,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:2989"^^xsd:string) oboI AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0008337 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0008337 "familial pterygium of the conjunctiva"^^xsd:string) EquivalentClasses(obo:MONDO_0008337 ObjectIntersectionOf( ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021152))) -SubClassOf(obo:MONDO_0008337 ) +SubClassOf(obo:MONDO_0008337 obo:MONDO_0100545) SubClassOf(obo:MONDO_0008337 ) # Class: obo:MONDO_0008338 (contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A) @@ -63737,7 +63777,7 @@ SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation( SubClassOf(Annotation(oboInOwl:source "DOID:0060768"^^xsd:string) obo:MONDO_0008434 obo:MONDO_0000761) SubClassOf(obo:MONDO_0008434 obo:MONDO_0002320) SubClassOf(Annotation(oboInOwl:source "Orphanet:819"^^xsd:string) obo:MONDO_0008434 obo:MONDO_0015159) -SubClassOf(obo:MONDO_0008434 ) +SubClassOf(obo:MONDO_0008434 obo:MONDO_0100545) # Class: obo:MONDO_0008437 (hereditary spastic paraplegia 3A) @@ -64928,7 +64968,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0008501 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0008501 "Sturge-Weber syndrome"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "GARD:0007706"^^xsd:string) rdfs:seeAlso obo:MONDO_0008501 "https://rarediseases.info.nih.gov/diseases/7706/sturge-weber-syndrome"^^xsd:anyURI) SubClassOf(Annotation(oboInOwl:source "MESH:D013341"^^xsd:string) Annotation(oboInOwl:source "NCIT:C3391"^^xsd:string) Annotation(oboInOwl:source "https://www.hopkinsmedicine.org"^^xsd:string) obo:MONDO_0008501 obo:MONDO_0042983) -SubClassOf(obo:MONDO_0008501 ) +SubClassOf(obo:MONDO_0008501 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "MONDO:0020222-obsoleted"^^xsd:string) obo:MONDO_0008501 ) # Class: obo:MONDO_0008503 (Worster-Drought syndrome) @@ -64999,7 +65039,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:3193"^^xsd:string) oboI AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0008504 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0008504 "supravalvular aortic stenosis"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "DOID:1929"^^xsd:string) obo:MONDO_0008504 obo:MONDO_0042981) -SubClassOf(obo:MONDO_0008504 ) +SubClassOf(obo:MONDO_0008504 obo:MONDO_0100547) # Class: obo:MONDO_0008509 (distal symphalangism) @@ -66223,7 +66263,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:88629"^^xsd:string) obo AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0008610 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0008610 "blue color blindness"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "DOID:11661"^^xsd:string) Annotation(oboInOwl:source "Orphanet:88629"^^xsd:string) obo:MONDO_0008610 obo:MONDO_0001703) -SubClassOf(obo:MONDO_0008610 ) +SubClassOf(obo:MONDO_0008610 obo:MONDO_0100545) # Class: obo:MONDO_0008611 (humerus trochlea aplasia) @@ -66737,7 +66777,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "MONDO:NORD"^^xsd:string) oboInOw AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0008648 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0008648 "ventricular tachycardia, familial"^^xsd:string) EquivalentClasses(obo:MONDO_0008648 ObjectIntersectionOf( ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021152))) -SubClassOf(obo:MONDO_0008648 ) +SubClassOf(obo:MONDO_0008648 obo:MONDO_0100547) SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "OMIM:192605"^^xsd:string) obo:MONDO_0008648 ) # Class: obo:MONDO_0008650 (posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome) @@ -69443,7 +69483,6 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:726"^^xsd:string) oboIn AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0008758 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0008758 "mitochondrial DNA depletion syndrome 4a"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "NCIT:C35257"^^xsd:string) obo:MONDO_0008758 obo:MONDO_0002254) -SubClassOf(obo:MONDO_0008758 obo:MONDO_0015653) SubClassOf(obo:MONDO_0008758 obo:MONDO_0020127) SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "Orphanet:726"^^xsd:string) obo:MONDO_0008758 obo:MONDO_0024237) SubClassOf(obo:MONDO_0008758 obo:MONDO_0100033) @@ -69482,7 +69521,6 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:31"^^xsd:string) oboInO AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0008759 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0008759 "oxoglutaricaciduria"^^xsd:string) SubClassOf(obo:MONDO_0008759 obo:MONDO_0004069) -SubClassOf(obo:MONDO_0008759 obo:MONDO_0015653) SubClassOf(Annotation(oboInOwl:source "Orphanet:31"^^xsd:string) obo:MONDO_0008759 obo:MONDO_0016790) SubClassOf(obo:MONDO_0008759 obo:MONDO_0020127) SubClassOf(obo:MONDO_0008759 obo:MONDO_0100033) @@ -70593,6 +70631,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0008816 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0008816 "Chiari malformation type II"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "DC-OMIM:207950"^^xsd:string) obo:MONDO_0008816 obo:MONDO_0000115) SubClassOf(Annotation(oboInOwl:source "Orphanet:1136"^^xsd:string) obo:MONDO_0008816 obo:MONDO_0017069) +SubClassOf(obo:MONDO_0008816 obo:MONDO_0100545) # Class: obo:MONDO_0008818 (arterial tortuosity syndrome) @@ -70961,7 +71000,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0008840 "ataxia telangiectasia"^^xsd:st AnnotationAssertion(Annotation(oboInOwl:source "GARD:0005862"^^xsd:string) rdfs:seeAlso obo:MONDO_0008840 "https://rarediseases.info.nih.gov/diseases/5862/ataxia-telangiectasia"^^xsd:anyURI) SubClassOf(Annotation(oboInOwl:source "NCIT:C2887"^^xsd:string) obo:MONDO_0008840 obo:MONDO_0015131) SubClassOf(Annotation(oboInOwl:source "Orphanet:100"^^xsd:string) obo:MONDO_0008840 obo:MONDO_0019852) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-9310-0163"^^xsd:string) obo:MONDO_0008840 ) +SubClassOf(obo:MONDO_0008840 obo:MONDO_0100545) # Class: obo:MONDO_0008842 (ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia) @@ -71380,8 +71419,8 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0008858 mondo:rare) AnnotationAssertion(rdfs:comment obo:MONDO_0008858 "Editor note: note ORDO obsoleting Behr disease and replaced by the more generic SHON but we retain for gene-speicific form"^^xsd:string) AnnotationAssertion(rdfs:label obo:MONDO_0008858 "Behr syndrome"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "GARD:0000849"^^xsd:string) rdfs:seeAlso obo:MONDO_0008858 "https://rarediseases.info.nih.gov/diseases/849/behr-syndrome"^^xsd:anyURI) +SubClassOf(obo:MONDO_0008858 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "https://clinicalgenome.org/working-groups/clinical-domain/inborn-errors-of-metabolism/"^^xsd:string) Annotation(oboInOwl:source "https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"^^xsd:string) obo:MONDO_0008858 obo:MONDO_0800181) -SubClassOf(Annotation(oboInOwl:source "DOID:0111580"^^xsd:string) obo:MONDO_0008858 ) SubClassOf(obo:MONDO_0008858 ) # Class: obo:MONDO_0008860 (beta-aminoisobutyric acid, urinary excretion of) @@ -72487,7 +72526,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0008908 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0008908 "MGAT2-congenital disorder of glycosylation"^^xsd:string) SubClassOf(obo:MONDO_0008908 obo:MONDO_0015327) SubClassOf(Annotation(oboInOwl:source "Orphanet:79329"^^xsd:string) obo:MONDO_0008908 obo:MONDO_0017740) -SubClassOf(Annotation(oboInOwl:source "MONDO:0018290-obsoleted"^^xsd:string) obo:MONDO_0008908 ) +SubClassOf(obo:MONDO_0008908 obo:MONDO_0100547) SubClassOf(Annotation(oboInOwl:source "DC-OMIM:212066"^^xsd:string) Annotation(oboInOwl:source "OMIM:212066"^^xsd:string) obo:MONDO_0008908 ) # Class: obo:MONDO_0008913 (cardiac valvular defect, developmental) @@ -72543,9 +72582,8 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:2229"^^xsd:string) oboI AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:2229"^^xsd:string) oboInOwl:inSubset obo:MONDO_0008915 mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0008915 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0008915 "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome"^^xsd:string) -SubClassOf(obo:MONDO_0008915 ) +SubClassOf(obo:MONDO_0008915 obo:MONDO_0100547) SubClassOf(Annotation(oboInOwl:source "GARD:0003373"^^xsd:string) obo:MONDO_0008915 ) -SubClassOf(Annotation(oboInOwl:source "GARD:0003373"^^xsd:string) obo:MONDO_0008915 ) SubClassOf(Annotation(oboInOwl:source "GARD:0003373"^^xsd:string) obo:MONDO_0008915 ) SubClassOf(Annotation(oboInOwl:source "MONDO:0015906"^^xsd:string) obo:MONDO_0008915 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021136)) @@ -72575,6 +72613,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0008917 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0008917 "heart defects-limb shortening syndrome"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "GARD:0002613"^^xsd:string) rdfs:seeAlso obo:MONDO_0008917 "https://rarediseases.info.nih.gov/diseases/2613/cardioskeletal-syndrome-kuwaiti-type"^^xsd:anyURI) SubClassOf(Annotation(oboInOwl:source "Orphanet:1354"^^xsd:string) obo:MONDO_0008917 obo:MONDO_0015161) +SubClassOf(obo:MONDO_0008917 obo:MONDO_0100547) SubClassOf(Annotation(oboInOwl:source "MESH:C535850"^^xsd:string) obo:MONDO_0008917 ) SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) obo:MONDO_0008917 ) SubClassOf(Annotation(oboInOwl:source "MONDO:0015960"^^xsd:string) obo:MONDO_0008917 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021136)) @@ -72727,7 +72766,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "GARD:0001142"^^xsd:string) rdfs: SubClassOf(Annotation(oboInOwl:source "Orphanet:1369"^^xsd:string) obo:MONDO_0008922 obo:MONDO_0016801) SubClassOf(obo:MONDO_0008922 obo:MONDO_0018117) SubClassOf(Annotation(oboInOwl:source "OMIM:212350"^^xsd:string) obo:MONDO_0008922 obo:MONDO_0018158) -SubClassOf(obo:MONDO_0008922 ) +SubClassOf(obo:MONDO_0008922 obo:MONDO_0100547) # Class: obo:MONDO_0008923 (autosomal recessive palmoplantar keratoderma and congenital alopecia) @@ -73153,6 +73192,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0008947 mondo:rare) AnnotationAssertion(rdfs:comment obo:MONDO_0008947 "Encompasses a range of disorders with different etiology, see https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-016-0693-1"^^xsd:string) AnnotationAssertion(rdfs:label obo:MONDO_0008947 "bilateral striopallidodentate calcinosis"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "Orphanet:1980"^^xsd:string) obo:MONDO_0008947 obo:MONDO_0015547) +SubClassOf(obo:MONDO_0008947 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "DOID:0060230"^^xsd:string) Annotation(oboInOwl:source "MESH:C536275"^^xsd:string) obo:MONDO_0008947 ) # Class: obo:MONDO_0008948 (cerebrotendinous xanthomatosis) @@ -73415,7 +73455,7 @@ AnnotationAssertion(rdfs:comment obo:MONDO_0008962 "This term's classification w AnnotationAssertion(rdfs:label obo:MONDO_0008962 "Griscelli syndrome type 1"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "GARD:0002566"^^xsd:string) rdfs:seeAlso obo:MONDO_0008962 "https://rarediseases.info.nih.gov/diseases/2566/griscelli-syndrome-type-1"^^xsd:anyURI) SubClassOf(Annotation(oboInOwl:source "DC-OMIM:214450"^^xsd:string) Annotation(oboInOwl:source "DOID:0060832"^^xsd:string) Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "OMIM:214450"^^xsd:string) Annotation(oboInOwl:source "Orphanet:79476"^^xsd:string) obo:MONDO_0008962 obo:MONDO_0018306) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-9310-0163"^^xsd:string) obo:MONDO_0008962 ) +SubClassOf(obo:MONDO_0008962 obo:MONDO_0100545) # Class: obo:MONDO_0008963 (Chediak-Higashi syndrome) @@ -73555,7 +73595,7 @@ SubClassOf(Annotation(oboInOwl:source "DOID:0050834"^^xsd:string) Annotation(obo SubClassOf(Annotation(oboInOwl:source "Orphanet:138"^^xsd:string) obo:MONDO_0008965 obo:MONDO_0015160) SubClassOf(Annotation(oboInOwl:source "MONDO:0015890-obsoleted"^^xsd:string) obo:MONDO_0008965 obo:MONDO_0015770) SubClassOf(Annotation(oboInOwl:source "Wikipedia:Neurocristopathy"^^xsd:string) obo:MONDO_0008965 obo:MONDO_0021635) -SubClassOf(Annotation(oboInOwl:source "MONDO:0015506-obsoleted"^^xsd:string) obo:MONDO_0008965 ) +SubClassOf(obo:MONDO_0008965 obo:MONDO_0100547) # Class: obo:MONDO_0008966 (Aagenaes syndrome) @@ -74200,7 +74240,7 @@ SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation( SubClassOf(obo:MONDO_0008999 obo:MONDO_0002320) SubClassOf(Annotation(oboInOwl:source "MONDO:0018032-obsoleted"^^xsd:string) Annotation(oboInOwl:source "https://github.com/monarch-initiative/mondo/pull/2571/"^^xsd:string) obo:MONDO_0008999 obo:MONDO_0015134) SubClassOf(Annotation(oboInOwl:source "Orphanet:193"^^xsd:string) obo:MONDO_0008999 obo:MONDO_0015159) -SubClassOf(obo:MONDO_0008999 ) +SubClassOf(obo:MONDO_0008999 obo:MONDO_0100545) # Class: obo:MONDO_0009000 (familial reactive perforating collagenosis) @@ -74415,6 +74455,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0009012 "multiple pterygium-malignant h AnnotationAssertion(Annotation(oboInOwl:source "GARD:0003361"^^xsd:string) rdfs:seeAlso obo:MONDO_0009012 "https://rarediseases.info.nih.gov/diseases/3361/malignant-hyperthermia-arthrogryposis-torticollis"^^xsd:anyURI) SubClassOf(obo:MONDO_0009012 obo:MONDO_0002320) SubClassOf(Annotation(oboInOwl:source "Orphanet:2215"^^xsd:string) obo:MONDO_0009012 obo:MONDO_0015168) +SubClassOf(obo:MONDO_0009012 obo:MONDO_0100545) # Class: obo:MONDO_0009014 (cornea plana 2) @@ -76807,8 +76848,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:1764"^^xsd:string) oboI AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0009131 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0009131 "Riley-Day syndrome"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "Wikipedia:Neurocristopathy"^^xsd:string) obo:MONDO_0009131 obo:MONDO_0021635) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-5002-8648"^^xsd:string) obo:MONDO_0009131 ) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-9310-0163"^^xsd:string) obo:MONDO_0009131 ) +SubClassOf(obo:MONDO_0009131 obo:MONDO_0100545) # Class: obo:MONDO_0009133 (cerebellar ataxia, intellectual disability, and dysequilibrium) @@ -77337,7 +77377,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:230851"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0009159 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0009159 "Ehlers-Danlos syndrome, cardiac valvular type"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "DC-OMIM:225320"^^xsd:string) Annotation(oboInOwl:source "MESH:C536200"^^xsd:string) Annotation(oboInOwl:source "OMIM:225320"^^xsd:string) Annotation(oboInOwl:source "Orphanet:230851"^^xsd:string) obo:MONDO_0009159 obo:MONDO_0020066) -SubClassOf(Annotation(oboInOwl:source "MONDO:0015506-obsoleted"^^xsd:string) obo:MONDO_0009159 ) +SubClassOf(obo:MONDO_0009159 obo:MONDO_0100547) # Class: obo:MONDO_0009161 (Ehlers-Danlos syndrome, dermatosparaxis type) @@ -77414,7 +77454,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0009162 "Ellis-van Creveld syndrome"^^x AnnotationAssertion(Annotation(oboInOwl:source "GARD:0001301"^^xsd:string) rdfs:seeAlso obo:MONDO_0009162 "https://rarediseases.info.nih.gov/diseases/1301/ellis-van-creveld-syndrome"^^xsd:anyURI) SubClassOf(Annotation(oboInOwl:source "OMIM:225500"^^xsd:string) obo:MONDO_0009162 obo:MONDO_0018770) SubClassOf(Annotation(oboInOwl:source "MESH:D004613"^^xsd:string) Annotation(oboInOwl:source "Orphanet:289"^^xsd:string) obo:MONDO_0009162 obo:MONDO_0019287) -SubClassOf(Annotation(oboInOwl:source "MONDO:0015506-obsoleted"^^xsd:string) obo:MONDO_0009162 ) +SubClassOf(obo:MONDO_0009162 obo:MONDO_0100547) SubClassOf(Annotation(oboInOwl:source "DOID:12714"^^xsd:string) Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) obo:MONDO_0009162 ) # Class: obo:MONDO_0009166 (pontocerebellar hypoplasia type 4) @@ -80039,7 +80079,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0009281 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0009281 "glutaryl-CoA dehydrogenase deficiency"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "DC-OMIM:231670"^^xsd:string) obo:MONDO_0009281 obo:MONDO_0000129) SubClassOf(Annotation(oboInOwl:source "PMID:33340416"^^xsd:string) obo:MONDO_0009281 obo:MONDO_0000688) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-9310-0163"^^xsd:string) obo:MONDO_0009281 ) +SubClassOf(obo:MONDO_0009281 obo:MONDO_0100545) # Class: obo:MONDO_0009282 (multiple acyl-CoA dehydrogenase deficiency) @@ -81481,6 +81521,7 @@ SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation( SubClassOf(obo:MONDO_0009341 obo:MONDO_0002320) SubClassOf(Annotation(oboInOwl:source "Orphanet:2152"^^xsd:string) obo:MONDO_0009341 obo:MONDO_0015159) SubClassOf(Annotation(oboInOwl:source "Orphanet:2152"^^xsd:string) obo:MONDO_0009341 obo:MONDO_0015653) +SubClassOf(obo:MONDO_0009341 obo:MONDO_0100545) # Class: obo:MONDO_0009342 (Hirschsprung disease-hearing loss-polydactyly syndrome) @@ -84000,6 +84041,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0009479 "Johanson-Blizzard syndrome"^^x SubClassOf(obo:MONDO_0009479 obo:MONDO_0002320) SubClassOf(Annotation(oboInOwl:source "Orphanet:2315"^^xsd:string) obo:MONDO_0009479 obo:MONDO_0015159) SubClassOf(obo:MONDO_0009479 obo:MONDO_0037940) +SubClassOf(obo:MONDO_0009479 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "EFO:0001063"^^xsd:string) Annotation(oboInOwl:source "MESH:C535880/inferred"^^xsd:string) Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) obo:MONDO_0009479 ) SubClassOf(Annotation(oboInOwl:source "DOID:14694"^^xsd:string) Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) obo:MONDO_0009479 ) @@ -84719,7 +84761,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0009511 "Larsen-like syndrome, B3GAT3 t SubClassOf(obo:MONDO_0009511 obo:MONDO_0015286) SubClassOf(obo:MONDO_0009511 obo:MONDO_0015327) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-4142-7153"^^xsd:string) obo:MONDO_0009511 obo:MONDO_0018230) -SubClassOf(Annotation(oboInOwl:source "MONDO:0018290-obsoleted"^^xsd:string) obo:MONDO_0009511 ) +SubClassOf(obo:MONDO_0009511 obo:MONDO_0100547) # Class: obo:MONDO_0009512 (lethal Larsen-like syndrome) @@ -86109,6 +86151,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0009578 "neurocutaneous melanocytosis"^ SubClassOf(obo:MONDO_0009578 obo:MONDO_0000648) SubClassOf(Annotation(oboInOwl:source "MESH:C537387"^^xsd:string) Annotation(oboInOwl:source "MONDO:cjm"^^xsd:string) obo:MONDO_0009578 obo:MONDO_0042983) SubClassOf(obo:MONDO_0009578 obo:MONDO_0100118) +SubClassOf(obo:MONDO_0009578 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "Orphanet:2481"^^xsd:string) obo:MONDO_0009578 ) SubClassOf(Annotation(oboInOwl:source "MONDO:0017414"^^xsd:string) obo:MONDO_0009578 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021136)) @@ -88234,6 +88277,7 @@ SubClassOf(Annotation(oboInOwl:source "NCIT:C84906"^^xsd:string) obo:MONDO_00096 SubClassOf(Annotation(oboInOwl:source "Orphanet:2576"^^xsd:string) Annotation(oboInOwl:source "Orphanet:2576/inferred"^^xsd:string) obo:MONDO_0009664 obo:MONDO_0021147) SubClassOf(Annotation(oboInOwl:source "https://www.clinicalgenome.org/affiliation/40049/"^^xsd:string) obo:MONDO_0009664 obo:MONDO_0100306) SubClassOf(Annotation(oboInOwl:source "DOID:0050436"^^xsd:string) Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) obo:MONDO_0009664 ) +SubClassOf(Annotation(oboInOwl:source "MONDO:0015960"^^xsd:string) obo:MONDO_0009664 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021136)) # Class: obo:MONDO_0009665 (biotinidase deficiency) @@ -88276,7 +88320,6 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:79241"^^xsd:string) obo AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0009665 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0009665 "biotinidase deficiency"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "DOID:856"^^xsd:string) Annotation(oboInOwl:source "MESH:D028921"^^xsd:string) Annotation(oboInOwl:source "Orphanet:79241"^^xsd:string) obo:MONDO_0009665 obo:MONDO_0015454) -SubClassOf(obo:MONDO_0009665 obo:MONDO_0015653) SubClassOf(Annotation(oboInOwl:source "MONDO:0016133-obsoleted"^^xsd:string) obo:MONDO_0009665 obo:MONDO_0020127) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-8486-0558"^^xsd:string) obo:MONDO_0009665 obo:MONDO_0100033) @@ -88321,9 +88364,9 @@ AnnotationAssertion(rdfs:comment obo:MONDO_0009666 "May occur as a secondary con AnnotationAssertion(rdfs:label obo:MONDO_0009666 "holocarboxylase synthetase deficiency"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "GARD:0002721"^^xsd:string) rdfs:seeAlso obo:MONDO_0009666 "https://rarediseases.info.nih.gov/diseases/2721/holocarboxylase-synthetase-deficiency"^^xsd:anyURI) SubClassOf(Annotation(oboInOwl:source "DOID:859"^^xsd:string) Annotation(oboInOwl:source "MESH:D028922"^^xsd:string) Annotation(oboInOwl:source "Orphanet:79242"^^xsd:string) obo:MONDO_0009666 obo:MONDO_0015454) -SubClassOf(obo:MONDO_0009666 obo:MONDO_0015653) SubClassOf(obo:MONDO_0009666 obo:MONDO_0019242) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-8486-0558"^^xsd:string) obo:MONDO_0009666 obo:MONDO_0100033) +SubClassOf(obo:MONDO_0009666 obo:MONDO_0100545) # Class: obo:MONDO_0009667 (muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3) @@ -89394,7 +89437,9 @@ SubClassOf(Annotation(oboInOwl:source "https://clinicalgenome.org/affiliation/40 # Class: obo:MONDO_0009714 (myosclerosis) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:289380"^^xsd:string) obo:IAO_0000115 obo:MONDO_0009714 "Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries."^^xsd:string) +AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0009714 "https://github.com/monarch-initiative/mondo/issues/2361"^^xsd:anyURI) AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0009714 "https://github.com/monarch-initiative/mondo/issues/4521"^^xsd:anyURI) +AnnotationAssertion(obo:IAO_0006012 obo:MONDO_0009714 "2024-05-01"^^xsd:string) AnnotationAssertion(mondo:closeMatch obo:MONDO_0009714 ) AnnotationAssertion(mondo:exactMatch obo:MONDO_0009714 ) AnnotationAssertion(mondo:exactMatch obo:MONDO_0009714 ) @@ -89415,11 +89460,14 @@ AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:255600"^^xsd:string) obo AnnotationAssertion(oboInOwl:id obo:MONDO_0009714 "MONDO:0009714"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "GARD:17325"^^xsd:string) oboInOwl:inSubset obo:MONDO_0009714 mondo:gard_rare) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:NORD"^^xsd:string) oboInOwl:inSubset obo:MONDO_0009714 mondo:nord_rare) +AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0009714 mondo:obsoletion_candidate) AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:289380"^^xsd:string) oboInOwl:inSubset obo:MONDO_0009714 mondo:ordo_disease) AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:289380"^^xsd:string) oboInOwl:inSubset obo:MONDO_0009714 mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0009714 mondo:rare) +AnnotationAssertion(rdfs:comment obo:MONDO_0009714 "Reason: duplicate. This will be merged with MONDO:0100225 collagen 6-related myopathy"^^xsd:string) AnnotationAssertion(rdfs:label obo:MONDO_0009714 "myosclerosis"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "PMID:21691338"^^xsd:string) Annotation(oboInOwl:source "https://clinicalgenome.org/affiliation/40031/"^^xsd:string) obo:MONDO_0009714 obo:MONDO_0100225) +SubClassOf(obo:MONDO_0009714 obo:MONDO_0100545) SubClassOf(obo:MONDO_0009714 obo:MONDO_0700223) # Class: obo:MONDO_0009716 (Richieri Costa-da Silva syndrome) @@ -89518,7 +89566,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:615"^^xsd:string) oboIn AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0009719 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0009719 "familial atrial myxoma"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "GARD:0000139"^^xsd:string) rdfs:seeAlso obo:MONDO_0009719 "https://rarediseases.info.nih.gov/diseases/139/atrial-myxoma-familial"^^xsd:anyURI) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-5002-8648"^^xsd:string) obo:MONDO_0009719 ) +SubClassOf(obo:MONDO_0009719 obo:MONDO_0100547) SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "Orphanet:615"^^xsd:string) obo:MONDO_0009719 ) SubClassOf(Annotation(oboInOwl:source "MONDO:0015673"^^xsd:string) obo:MONDO_0009719 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021136)) @@ -89621,6 +89669,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0009722 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0009722 "Bailey-Bloch congenital myopathy"^^xsd:string) SubClassOf(obo:MONDO_0009722 obo:MONDO_0002320) SubClassOf(Annotation(oboInOwl:source "OMIM:255310"^^xsd:string) Annotation(oboInOwl:source "Orphanet:168572"^^xsd:string) obo:MONDO_0009722 obo:MONDO_0019952) +SubClassOf(obo:MONDO_0009722 obo:MONDO_0100545) # Class: obo:MONDO_0009723 (Leigh syndrome) @@ -92261,7 +92310,7 @@ SubClassOf(Annotation(oboInOwl:source "DOID:0070312"^^xsd:string) Annotation(obo SubClassOf(Annotation(oboInOwl:source "Orphanet:709"^^xsd:string) obo:MONDO_0009856 obo:MONDO_0015159) SubClassOf(obo:MONDO_0009856 obo:MONDO_0015327) SubClassOf(Annotation(oboInOwl:source "Orphanet:709"^^xsd:string) obo:MONDO_0009856 obo:MONDO_0017747) -SubClassOf(Annotation(oboInOwl:source "MONDO:0018290-obsoleted"^^xsd:string) obo:MONDO_0009856 ) +SubClassOf(obo:MONDO_0009856 obo:MONDO_0100547) SubClassOf(Annotation(oboInOwl:source "MONDO:0020222-obsoleted"^^xsd:string) obo:MONDO_0009856 ) # Class: obo:MONDO_0009857 (persistent Mullerian duct syndrome) @@ -92636,7 +92685,7 @@ SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-4142-7153"^^x # Class: obo:MONDO_0009868 (glycogen storage disease IXb) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:79240"^^xsd:string) obo:IAO_0000115 obo:MONDO_0009868 "Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency."^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "https://clinicalgenome.org/affiliation/40097/"^^xsd:string) obo:IAO_0000115 obo:MONDO_0009868 "A disorder of glycogen metabolism caused by a deficiency in liver and muscle phosphorylase kinase subunit b, is autosomal recessive and can lead to hepatomegaly, hypoglycemia after prolonged fasting, and growth retardation."^^xsd:string) AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0009868 "https://github.com/monarch-initiative/mondo/issues/4985"^^xsd:anyURI) AnnotationAssertion(mondo:exactMatch obo:MONDO_0009868 ) AnnotationAssertion(mondo:exactMatch obo:MONDO_0009868 ) @@ -92656,6 +92705,7 @@ AnnotationAssertion(Annotation(oboInOwl:hasDbXref "DOID:0111041"^^xsd:string) An AnnotationAssertion(Annotation(oboInOwl:hasDbXref "DOID:0111041"^^xsd:string) Annotation(oboInOwl:hasDbXref "MONDO:Lexical"^^xsd:string) Annotation(oboInOwl:hasDbXref "OMIM:261750"^^xsd:string) Annotation(oboInOwl:hasSynonymType mondo:ABBREVIATION) oboInOwl:hasExactSynonym obo:MONDO_0009868 "GSD9B"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:design_pattern"^^xsd:string) Annotation(oboInOwl:hasDbXref "MONDO:patterns/disease_series_by_gene"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0009868 "PHKB glycogen storage disease"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "https://www.ncbi.nlm.nih.gov/books/NBK55061/"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0009868 "PHKB-related glycogen storage disease type IX"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "https://clinicalgenome.org/affiliation/40097/"^^xsd:string) Annotation(oboInOwl:hasSynonymType mondo:CLINGEN_LABEL) oboInOwl:hasExactSynonym obo:MONDO_0009868 "glycogen storage disease 9B"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:Lexical"^^xsd:string) Annotation(oboInOwl:hasDbXref "OMIM:261750"^^xsd:string) Annotation(oboInOwl:hasSynonymType mondo:CLINGEN_LABEL) oboInOwl:hasExactSynonym obo:MONDO_0009868 "glycogen storage disease IXb"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:design_pattern"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0009868 "glycogen storage disease caused by mutation in PHKB"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "DOID:0111041"^^xsd:string) Annotation(oboInOwl:hasDbXref "Orphanet:79240"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0009868 "glycogen storage disease type 9B"^^xsd:string) @@ -93997,8 +94047,9 @@ SubClassOf(obo:MONDO_0009928 ) SubClassOf(Annotation(oboInOwl:source "DOID:12117"^^xsd:string) Annotation(oboInOwl:source "MESH:C562405"^^xsd:string) obo:MONDO_0009928 ) SubClassOf(Annotation(oboInOwl:source "MONDO:0015510"^^xsd:string) obo:MONDO_0009928 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021136)) -# Class: obo:MONDO_0009929 (neonatal acute respiratory distress due to SP-B deficiency) +# Class: obo:MONDO_0009929 (surfactant metabolism dysfunction, pulmonary, 1) +AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0009929 "https://github.com/monarch-initiative/mondo/issues/7306"^^xsd:anyURI) AnnotationAssertion(mondo:exactMatch obo:MONDO_0009929 ) AnnotationAssertion(mondo:exactMatch obo:MONDO_0009929 ) AnnotationAssertion(mondo:exactMatch obo:MONDO_0009929 obo:Orphanet_217563) @@ -94009,7 +94060,9 @@ AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) Annotation(oboInOwl:source "OMIM:265120"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0009929 "Orphanet:217563"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) Annotation(oboInOwl:source "MONDO:ncbi_mim2gene_medline"^^xsd:string) Annotation(oboInOwl:source "OMIM:265120"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0009929 "UMLS:C1968602"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:Lexical"^^xsd:string) Annotation(oboInOwl:hasDbXref "OMIM:265120"^^xsd:string) Annotation(oboInOwl:hasSynonymType mondo:ABBREVIATION) oboInOwl:hasExactSynonym obo:MONDO_0009929 "SMDP1"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "https://orcid.org/0009-0007-1636-9645"^^xsd:string) Annotation(oboInOwl:hasSynonymType mondo:CLINGEN_LABEL) oboInOwl:hasExactSynonym obo:MONDO_0009929 "interstitial lung disease due to SP-B dysfunction"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:265120"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0009929 "interstitial lung disease due to surfactant Protein B deficiency"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:217563"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0009929 "neonatal acute respiratory distress due to SP-B deficiency"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:217563"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0009929 "neonatal acute respiratory distress due to surfactant protein B deficiency"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:265120"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0009929 "pulmonary alveolar proteinosis, congenital, 1"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:Lexical"^^xsd:string) Annotation(oboInOwl:hasDbXref "OMIM:265120"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0009929 "surfactant metabolism dysfunction, pulmonary, 1"^^xsd:string) @@ -94022,7 +94075,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "MONDO:NORD"^^xsd:string) oboInOw AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:217563"^^xsd:string) oboInOwl:inSubset obo:MONDO_0009929 mondo:ordo_disease) AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:217563"^^xsd:string) oboInOwl:inSubset obo:MONDO_0009929 mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0009929 mondo:rare) -AnnotationAssertion(rdfs:label obo:MONDO_0009929 "neonatal acute respiratory distress due to SP-B deficiency"^^xsd:string) +AnnotationAssertion(rdfs:label obo:MONDO_0009929 "surfactant metabolism dysfunction, pulmonary, 1"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "OMIM:265120"^^xsd:string) Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) obo:MONDO_0009929 obo:MONDO_0012580) SubClassOf(obo:MONDO_0009929 obo:MONDO_0020683) @@ -94162,7 +94215,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0009934 "alveolar capillary dysplasia w AnnotationAssertion(Annotation(oboInOwl:source "GARD:0008644"^^xsd:string) rdfs:seeAlso obo:MONDO_0009934 "https://rarediseases.info.nih.gov/diseases/8644/alveolar-capillary-dysplasia"^^xsd:anyURI) SubClassOf(Annotation(oboInOwl:source "Orphanet:210122"^^xsd:string) obo:MONDO_0009934 obo:MONDO_0017015) SubClassOf(Annotation(oboInOwl:source "MONDO:cjm"^^xsd:string) obo:MONDO_0009934 obo:MONDO_0020295) -SubClassOf(obo:MONDO_0009934 ) +SubClassOf(obo:MONDO_0009934 obo:MONDO_0100547) # Class: obo:MONDO_0009935 (pulmonary hypertension, primary, autosomal recessive) @@ -94385,9 +94438,9 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:3006"^^xsd:string) oboI AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0009945 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0009945 "pyridoxine-dependent epilepsy"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "GARD:0009298"^^xsd:string) rdfs:seeAlso obo:MONDO_0009945 "https://rarediseases.info.nih.gov/diseases/9298/pyridoxine-dependent-epilepsy"^^xsd:anyURI) -SubClassOf(obo:MONDO_0009945 obo:MONDO_0015653) SubClassOf(Annotation(oboInOwl:source "Orphanet:3006"^^xsd:string) obo:MONDO_0009945 obo:MONDO_0019237) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-8486-0558"^^xsd:string) obo:MONDO_0009945 obo:MONDO_0100033) +SubClassOf(obo:MONDO_0009945 obo:MONDO_0100545) # Class: obo:MONDO_0009946 (hemolytic anemia due to pyrimidine 5' nucleotidase deficiency) @@ -94913,6 +94966,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0009966 "NPHP3-related Meckel-like synd AnnotationAssertion(Annotation(oboInOwl:source "GARD:0004665"^^xsd:string) rdfs:seeAlso obo:MONDO_0009966 "https://rarediseases.info.nih.gov/diseases/4665/dandy-walker-cyst-with-renal-hepatic-pancreatic-dysplasia"^^xsd:anyURI) SubClassOf(Annotation(oboInOwl:source "DC-OMIM:267010"^^xsd:string) Annotation(oboInOwl:source "DOID:0070121"^^xsd:string) Annotation(oboInOwl:source "OMIM:267010"^^xsd:string) obo:MONDO_0009966 obo:MONDO_0018921) SubClassOf(obo:MONDO_0009966 obo:MONDO_0020022) +SubClassOf(obo:MONDO_0009966 obo:MONDO_0100545) SubClassOf(obo:MONDO_0009966 ObjectSomeValuesFrom(mondo:disease_has_major_feature obo:MONDO_0020022)) # Class: obo:MONDO_0009968 (renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss) @@ -95116,7 +95170,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0009974 mondo:rare) AnnotationAssertion(rdfs:comment obo:MONDO_0009974 "Editor note: type 1 split out. This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'inflammatory disease' (MONDO:0021166) ontology branch (https://orcid.org/0000-0003-4830-7530, https://orcid.org/0000-0001-9310-0163)."^^xsd:string) AnnotationAssertion(rdfs:label obo:MONDO_0009974 "familial hemophagocytic lymphohistiocytosis type 1"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "MONDO:Entailed"^^xsd:string) Annotation(oboInOwl:source "OMIM:267700"^^xsd:string) Annotation(oboInOwl:source "Orphanet:540"^^xsd:string) obo:MONDO_0009974 obo:MONDO_0015541) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-9310-0163"^^xsd:string) obo:MONDO_0009974 ) +SubClassOf(obo:MONDO_0009974 obo:MONDO_0100545) # Class: obo:MONDO_0009977 (obsolete Knobloch syndrome) @@ -95712,6 +95766,7 @@ SubClassOf(Annotation(oboInOwl:source "Orphanet:798"^^xsd:string) Annotation(obo SubClassOf(obo:MONDO_0010010 obo:MONDO_0002320) SubClassOf(Annotation(oboInOwl:source "Orphanet:798"^^xsd:string) obo:MONDO_0010010 obo:MONDO_0015160) SubClassOf(Annotation(oboInOwl:source "Orphanet:798"^^xsd:string) obo:MONDO_0010010 obo:MONDO_0019287) +SubClassOf(obo:MONDO_0010010 obo:MONDO_0100545) # Class: obo:MONDO_0010011 (schizencephaly) @@ -95904,7 +95959,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:911"^^xsd:string) oboIn AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:911"^^xsd:string) oboInOwl:inSubset obo:MONDO_0010023 mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0010023 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0010023 "combined immunodeficiency due to ZAP70 deficiency"^^xsd:string) -SubClassOf(Annotation(oboInOwl:source "OMIM:269840"^^xsd:string) obo:MONDO_0010023 obo:MONDO_0021094) +SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-4142-7153"^^xsd:string) obo:MONDO_0010023 obo:MONDO_0015131) # Class: obo:MONDO_0010024 (Beemer-Langer syndrome) @@ -98532,7 +98587,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0010159 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0010159 "mismatch repair cancer syndrome 1"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "MESH:C536928"^^xsd:string) Annotation(oboInOwl:source "NCIT:C130202"^^xsd:string) Annotation(oboInOwl:source "Orphanet:252202"^^xsd:string) obo:MONDO_0010159 obo:MONDO_0015356) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) obo:MONDO_0010159 obo:MONDO_0031219) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-9310-0163"^^xsd:string) obo:MONDO_0010159 ) +SubClassOf(obo:MONDO_0010159 obo:MONDO_0100545) # Class: obo:MONDO_0010160 (tyrosinemia type II) @@ -98925,7 +98980,7 @@ SubClassOf(obo:MONDO_0010172 ObjectSomeValuesFrom(mondo:disease_shares_features_ # Class: obo:MONDO_0010173 (Mayer-Rokitansky-Kuster-Hauser syndrome type 1) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:247775"^^xsd:string) obo:IAO_0000115 obo:MONDO_0010173 "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."^^xsd:string) -AnnotationAssertion(mondo:exactMatch obo:MONDO_0010173 ) +AnnotationAssertion(mondo:exactMatch obo:MONDO_0010173 ) AnnotationAssertion(mondo:exactMatch obo:MONDO_0010173 obo:DOID_0112178) AnnotationAssertion(mondo:exactMatch obo:MONDO_0010173 obo:Orphanet_247775) AnnotationAssertion(mondo:exactMatch obo:MONDO_0010173 ) @@ -98934,7 +98989,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:247775"^^xsd:string) ob AnnotationAssertion(Annotation(oboInOwl:source "MONDO:i2s"^^xsd:string) Annotation(oboInOwl:source "MONDO:relatedTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0010173 "ICD9:752.49"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "GARD:0007100"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) Annotation(oboInOwl:source "Orphanet:247775"^^xsd:string) Annotation(oboInOwl:source "Orphanet:247775/e"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0010173 "OMIM:277000"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) Annotation(oboInOwl:source "OMIM:277000"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0010173 "Orphanet:247775"^^xsd:string) -AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0010173 "SCTID:8793008"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0010173 "UMLS:C5566555"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:247775"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0010173 "MRKH syndrome type 1"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:247775"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0010173 "Rokitansky sequence"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "GARD:0007100"^^xsd:string) Annotation(oboInOwl:hasDbXref "OMIM:277000"^^xsd:string) Annotation(oboInOwl:hasDbXref "Orphanet:247775"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0010173 "congenital absence of uterus and vagina"^^xsd:string) @@ -99011,6 +99066,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "GARD:0004412"^^xsd:string) rdfs: SubClassOf(obo:MONDO_0010176 obo:MONDO_0013824) SubClassOf(Annotation(oboInOwl:source "DC-OMIM:277170"^^xsd:string) Annotation(oboInOwl:source "MESH:C536531"^^xsd:string) Annotation(oboInOwl:source "Orphanet:2754"^^xsd:string) obo:MONDO_0010176 obo:MONDO_0015375) SubClassOf(obo:MONDO_0010176 obo:MONDO_0020022) +SubClassOf(obo:MONDO_0010176 obo:MONDO_0100545) SubClassOf(obo:MONDO_0010176 ObjectSomeValuesFrom(mondo:disease_has_major_feature obo:MONDO_0020022)) # Class: obo:MONDO_0010178 (congenital bilateral aplasia of vas deferens from CFTR mutation) @@ -100050,7 +100106,7 @@ SubClassOf(obo:MONDO_0010221 obo:MONDO_0015905) SubClassOf(Annotation(oboInOwl:source "Orphanet:3474"^^xsd:string) obo:MONDO_0010221 obo:MONDO_0017748) SubClassOf(Annotation(oboInOwl:source "MESH:C536729/inferred"^^xsd:string) Annotation(oboInOwl:source "Orphanet:3474"^^xsd:string) obo:MONDO_0010221 obo:MONDO_0019287) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-9310-0163"^^xsd:string) obo:MONDO_0010221 obo:MONDO_0024458) -SubClassOf(Annotation(oboInOwl:source "MONDO:0018290-obsoleted"^^xsd:string) obo:MONDO_0010221 ) +SubClassOf(obo:MONDO_0010221 obo:MONDO_0100547) # Class: obo:MONDO_0010222 (X-linked Opitz G/BBB syndrome) @@ -100350,7 +100406,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0010243 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0010243 "X-linked immunoneurologic disorder"^^xsd:string) SubClassOf(obo:MONDO_0010243 obo:MONDO_0000425) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-7941-2961"^^xsd:string) obo:MONDO_0010243 obo:MONDO_0003778) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-7941-2961"^^xsd:string) obo:MONDO_0010243 ) +SubClassOf(obo:MONDO_0010243 obo:MONDO_0100545) # Class: obo:MONDO_0010246 (developmental and epileptic encephalopathy, 9) @@ -101980,7 +102036,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:391417"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0010327 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0010327 "HSD10 mitochondrial disease"^^xsd:string) SubClassOf(obo:MONDO_0010327 obo:MONDO_0004069) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-9310-0163"^^xsd:string) obo:MONDO_0010327 ) +SubClassOf(obo:MONDO_0010327 obo:MONDO_0100545) # Class: obo:MONDO_0010328 (alpha-thalassemia-myelodysplastic syndrome) @@ -103095,6 +103151,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0010397 "severe neonatal-onset encephal SubClassOf(Annotation(oboInOwl:source "Orphanet:209370"^^xsd:string) obo:MONDO_0010397 obo:MONDO_0015653) SubClassOf(Annotation(oboInOwl:source "Orphanet:209370"^^xsd:string) obo:MONDO_0010397 obo:MONDO_0020070) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) obo:MONDO_0010397 obo:MONDO_0100198) +SubClassOf(obo:MONDO_0010397 obo:MONDO_0100545) # Class: obo:MONDO_0010399 (chromosome Xp21 deletion syndrome) @@ -103813,7 +103870,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0010441 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0010441 "CK syndrome"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "Orphanet:251383"^^xsd:string) Annotation(oboInOwl:source "Orphanet:251383/inferred"^^xsd:string) Annotation(oboInOwl:source "https://clinicalgenome.org/affiliation/40060/"^^xsd:string) obo:MONDO_0010441 obo:MONDO_0000508) SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "Orphanet:251383"^^xsd:string) Annotation(oboInOwl:source "Orphanet:251383/inferred"^^xsd:string) obo:MONDO_0010441 obo:MONDO_0021147) -SubClassOf(obo:MONDO_0010441 ) +SubClassOf(obo:MONDO_0010441 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "MONDO:0015960"^^xsd:string) Annotation(oboInOwl:source "MONDO:0015983"^^xsd:string) obo:MONDO_0010441 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021136)) # Class: obo:MONDO_0010444 (X-linked dyserythropoetic anemia with abnormal platelets and neutropenia) @@ -104887,7 +104944,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:504530"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0010514 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0010514 "combined immunodeficiency due to moesin deficiency"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "DC-OMIM:300988"^^xsd:string) Annotation(oboInOwl:source "MONDO:indirect"^^xsd:string) obo:MONDO_0010514 obo:MONDO_0003778) -SubClassOf(Annotation(oboInOwl:source "OMIM:300988"^^xsd:string) obo:MONDO_0010514 obo:MONDO_0021094) +SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-4142-7153"^^xsd:string) obo:MONDO_0010514 obo:MONDO_0015131) # Class: obo:MONDO_0010518 (Wiskott-Aldrich syndrome) @@ -105619,6 +105676,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0010542 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0010542 "dilated cardiomyopathy 3B"^^xsd:string) SubClassOf(obo:MONDO_0010542 obo:MONDO_0016147) SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "OMIM:302045"^^xsd:string) obo:MONDO_0010542 obo:MONDO_0016333) +SubClassOf(obo:MONDO_0010542 obo:MONDO_0100545) # Class: obo:MONDO_0010543 (Barth syndrome) @@ -109388,8 +109446,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:2886"^^xsd:string) oboI AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0010711 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0010711 "TARP syndrome"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "GARD:0010089"^^xsd:string) rdfs:seeAlso obo:MONDO_0010711 "https://rarediseases.info.nih.gov/diseases/10089/tarp-syndrome"^^xsd:anyURI) -SubClassOf(obo:MONDO_0010711 ) -SubClassOf(Annotation(oboInOwl:source "MONDO:0015506-obsoleted"^^xsd:string) obo:MONDO_0010711 ) +SubClassOf(obo:MONDO_0010711 obo:MONDO_0100547) # Class: obo:MONDO_0010713 (properdin deficiency, X-linked) @@ -110326,7 +110383,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0010753 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0010753 "cardiac valvular dysplasia, X-linked"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "GARD:0001096"^^xsd:string) rdfs:seeAlso obo:MONDO_0010753 "https://rarediseases.info.nih.gov/diseases/1096/cardiac-valvular-dysplasia-x-linked"^^xsd:anyURI) SubClassOf(Annotation(oboInOwl:source "Orphanet:1864"^^xsd:string) obo:MONDO_0010753 obo:MONDO_0020289) -SubClassOf(obo:MONDO_0010753 ) +SubClassOf(obo:MONDO_0010753 obo:MONDO_0100547) # Class: obo:MONDO_0010754 (van den Bosch syndrome) @@ -110991,7 +111048,6 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:644"^^xsd:string) oboIn AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:644"^^xsd:string) oboInOwl:inSubset obo:MONDO_0010794 mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0010794 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0010794 "NARP syndrome"^^xsd:string) -SubClassOf(obo:MONDO_0010794 obo:MONDO_0015653) SubClassOf(obo:MONDO_0010794 obo:MONDO_0016387) SubClassOf(obo:MONDO_0010794 obo:MONDO_0020127) SubClassOf(obo:MONDO_0010794 obo:MONDO_0100033) @@ -111158,7 +111214,7 @@ SubClassOf(Annotation(oboInOwl:source "Orphanet:3180"^^xsd:string) obo:MONDO_001 # Class: obo:MONDO_0010802 (pancreatic hypoplasia-diabetes-congenital heart disease syndrome) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:2255"^^xsd:string) obo:IAO_0000115 obo:MONDO_0010802 "Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis)."^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:2255"^^xsd:string) obo:IAO_0000115 obo:MONDO_0010802 "A rare, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis)."^^xsd:string) AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0010802 "https://github.com/monarch-initiative/mondo/issues/4069"^^xsd:anyURI) AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0010802 "https://github.com/monarch-initiative/mondo/issues/5723"^^xsd:anyURI) AnnotationAssertion(mondo:exactMatch obo:MONDO_0010802 ) @@ -111543,8 +111599,8 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0010826 mondo:predisposition) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0010826 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0010826 "childhood absence epilepsy"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "DOID:1825"^^xsd:string) obo:MONDO_0010826 obo:MONDO_0000414) -SubClassOf(obo:MONDO_0010826 obo:MONDO_0015653) SubClassOf(Annotation(oboInOwl:source "Orphanet:64280/inferred"^^xsd:string) Annotation(oboInOwl:source "https://orcid.org/0000-0001-8486-0558"^^xsd:string) obo:MONDO_0010826 obo:MONDO_0020072) +SubClassOf(obo:MONDO_0010826 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "DOID:0070309"^^xsd:string) obo:MONDO_0010826 obo:MONDO_0850093) # Class: obo:MONDO_0010829 (CARASIL syndrome) @@ -113606,6 +113662,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0010977 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0010977 "Brody myopathy"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "GARD:0009158"^^xsd:string) rdfs:seeAlso obo:MONDO_0010977 "https://rarediseases.info.nih.gov/diseases/9158/brody-myopathy"^^xsd:anyURI) SubClassOf(Annotation(oboInOwl:source "Orphanet:53347"^^xsd:string) Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) obo:MONDO_0010977 obo:MONDO_0016199) +SubClassOf(obo:MONDO_0010977 obo:MONDO_0100545) SubClassOf(obo:MONDO_0010977 obo:MONDO_0700223) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) obo:MONDO_0010977 ) @@ -113772,6 +113829,7 @@ SubClassOf(Annotation(oboInOwl:source "GARD:0000756"^^xsd:string) Annotation(obo AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:2578"^^xsd:string) obo:IAO_0000115 obo:MONDO_0010989 "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."^^xsd:string) AnnotationAssertion(mondo:exactMatch obo:MONDO_0010989 ) +AnnotationAssertion(mondo:exactMatch obo:MONDO_0010989 ) AnnotationAssertion(mondo:exactMatch obo:MONDO_0010989 obo:DOID_0112179) AnnotationAssertion(mondo:exactMatch obo:MONDO_0010989 obo:Orphanet_2578) AnnotationAssertion(mondo:exactMatch obo:MONDO_0010989 ) @@ -113780,6 +113838,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:2578"^^xsd:string) oboI AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) Annotation(oboInOwl:source "Orphanet:2578"^^xsd:string) Annotation(oboInOwl:source "Orphanet:2578/e"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0010989 "OMIM:601076"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) Annotation(oboInOwl:source "OMIM:601076"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0010989 "Orphanet:2578"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0010989 "SCTID:717705004"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0010989 "UMLS:C4305568"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:2578"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0010989 "MRKH syndrome type 2"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:2578"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0010989 "MURCS association"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:2578"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0010989 "Mayer-Rokitansky-Küster-Hauser syndrome type 2"^^xsd:string) @@ -114955,6 +115014,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0011053 "intellectual disability-sparse SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "Orphanet:3051"^^xsd:string) Annotation(oboInOwl:source "https://clinicalgenome.org/affiliation/40060/"^^xsd:string) obo:MONDO_0011053 obo:MONDO_0000508) SubClassOf(obo:MONDO_0011053 obo:MONDO_0002320) SubClassOf(Annotation(oboInOwl:source "Orphanet:3051"^^xsd:string) obo:MONDO_0011053 obo:MONDO_0015159) +SubClassOf(obo:MONDO_0011053 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "PMID:30580808"^^xsd:string) Annotation(oboInOwl:source "https://orcid.org/0000-0001-7451-4467"^^xsd:string) obo:MONDO_0011053 obo:MONDO_0700120) # Class: obo:MONDO_0011054 (autosomal recessive amelia) @@ -115352,7 +115412,7 @@ SubClassOf(obo:MONDO_0011076 obo:MONDO_0002320) SubClassOf(obo:MONDO_0011076 obo:MONDO_0016187) SubClassOf(obo:MONDO_0011076 obo:MONDO_0016333) SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "OMIM:601419"^^xsd:string) Annotation(oboInOwl:source "Orphanet:98909"^^xsd:string) obo:MONDO_0011076 obo:MONDO_0018943) -SubClassOf(obo:MONDO_0011076 ) +SubClassOf(obo:MONDO_0011076 obo:MONDO_0100546) # Class: obo:MONDO_0011079 (rhizomelic dysplasia, Patterson-Lowry type) @@ -115607,7 +115667,7 @@ AnnotationAssertion(rdfs:comment obo:MONDO_0011090 "This term's classification w AnnotationAssertion(rdfs:label obo:MONDO_0011090 "isolated hereditary congenital facial paralysis"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "GARD:0008583"^^xsd:string) rdfs:seeAlso obo:MONDO_0011090 "https://rarediseases.info.nih.gov/diseases/8583/hereditary-congenital-facial-paresis"^^xsd:anyURI) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-4142-7153"^^xsd:string) obo:MONDO_0011090 obo:MONDO_0002320) -SubClassOf(obo:MONDO_0011090 ) +SubClassOf(obo:MONDO_0011090 obo:MONDO_0100545) # Class: obo:MONDO_0011091 (Charcot-Marie-Tooth disease type 2D) @@ -116318,7 +116378,7 @@ SubClassOf(obo:MONDO_0011142 obo:MONDO_0015286) SubClassOf(obo:MONDO_0011142 obo:MONDO_0015327) SubClassOf(Annotation(oboInOwl:source "Orphanet:2953"^^xsd:string) obo:MONDO_0011142 obo:MONDO_0019942) SubClassOf(Annotation(oboInOwl:source "DC-OMIM:601776"^^xsd:string) Annotation(oboInOwl:source "MESH:C000600608"^^xsd:string) Annotation(oboInOwl:source "OMIM:601776"^^xsd:string) Annotation(oboInOwl:source "Orphanet:2953"^^xsd:string) obo:MONDO_0011142 obo:MONDO_0020066) -SubClassOf(Annotation(oboInOwl:source "MONDO:0018290-obsoleted"^^xsd:string) obo:MONDO_0011142 ) +SubClassOf(obo:MONDO_0011142 obo:MONDO_0100547) # Class: obo:MONDO_0011144 (ceroid lipofuscinosis, neuronal, 6A) @@ -116963,7 +117023,6 @@ AnnotationAssertion(rdfs:label obo:MONDO_0011178 "infantile convulsions and chor SubClassOf(Annotation(oboInOwl:source "NCIT:C126650"^^xsd:string) obo:MONDO_0011178 obo:MONDO_0002254) SubClassOf(Annotation(oboInOwl:source "Orphanet:31709"^^xsd:string) obo:MONDO_0011178 obo:MONDO_0015427) SubClassOf(Annotation(oboInOwl:source "Orphanet:31709"^^xsd:string) obo:MONDO_0011178 obo:MONDO_0015642) -SubClassOf(obo:MONDO_0011178 obo:MONDO_0015653) # Class: obo:MONDO_0011182 (trimethylaminuria) @@ -117023,7 +117082,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:209908"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0011184 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0011184 "childhood apraxia of speech"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "Orphanet:209908"^^xsd:string) obo:MONDO_0011184 obo:MONDO_0016226) -SubClassOf(obo:MONDO_0011184 ) +SubClassOf(obo:MONDO_0011184 obo:MONDO_0100545) # Class: obo:MONDO_0011185 (Thiel-Behnke corneal dystrophy) @@ -117385,7 +117444,7 @@ SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation( SubClassOf(obo:MONDO_0011213 obo:MONDO_0002320) SubClassOf(Annotation(oboInOwl:source "Orphanet:487825"^^xsd:string) obo:MONDO_0011213 obo:MONDO_0015159) SubClassOf(Annotation(oboInOwl:source "Orphanet:487825"^^xsd:string) obo:MONDO_0011213 obo:MONDO_0019296) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) obo:MONDO_0011213 ) +SubClassOf(obo:MONDO_0011213 obo:MONDO_0100545) # Class: obo:MONDO_0011214 (progressive familial intrahepatic cholestasis type 3) @@ -117850,7 +117909,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:60040"^^xsd:string) obo AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0011240 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0011240 "megalencephaly-capillary malformation-polymicrogyria syndrome"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "https://clinicalgenome.org/affiliation/40020/"^^xsd:string) Annotation(oboInOwl:source "https://github.com/monarch-initiative/mondo/issues/2547"^^xsd:string) obo:MONDO_0011240 obo:MONDO_0100283) -SubClassOf(obo:MONDO_0011240 ) +SubClassOf(obo:MONDO_0011240 obo:MONDO_0100545) SubClassOf(obo:MONDO_0011240 ObjectSomeValuesFrom(obo:RO_0004029 obo:MONDO_0016231)) # Class: obo:MONDO_0011242 (Bartter disease type 4A) @@ -119326,7 +119385,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:228140"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0011376 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0011376 "ventricular fibrillation, paroxysmal familial, type 1"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "DC-OMIM:603829"^^xsd:string) Annotation(oboInOwl:source "MESH:C567851"^^xsd:string) obo:MONDO_0011376 obo:MONDO_0100234) -SubClassOf(obo:MONDO_0011376 ) +SubClassOf(obo:MONDO_0011376 obo:MONDO_0100547) # Class: obo:MONDO_0011377 (long QT syndrome 3) @@ -119706,6 +119765,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0011400 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0011400 "dilated cardiomyopathy 1G"^^xsd:string) SubClassOf(obo:MONDO_0011400 obo:MONDO_0016191) SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "OMIM:604145"^^xsd:string) obo:MONDO_0011400 obo:MONDO_0016333) +SubClassOf(obo:MONDO_0011400 obo:MONDO_0100545) # Class: obo:MONDO_0011402 (congenital cataracts-facial dysmorphism-neuropathy syndrome) @@ -120042,14 +120102,20 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:119"^^xsd:string) oboIn AnnotationAssertion(Annotation(oboInOwl:source "DOID:0110279"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) Annotation(oboInOwl:source "Orphanet:119"^^xsd:string) Annotation(oboInOwl:source "Orphanet:119/e"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0011423 "OMIM:604286"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "DOID:0110279"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) Annotation(oboInOwl:source "OMIM:604286"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0011423 "Orphanet:119"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0011423 "SCTID:718850008"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:119"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0011423 "LGMD due to beta-sarcoglycan deficiency"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:119"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0011423 "LGMD type 2E"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "DOID:0110279"^^xsd:string) Annotation(oboInOwl:hasDbXref "MONDO:Lexical"^^xsd:string) Annotation(oboInOwl:hasDbXref "OMIM:604286"^^xsd:string) Annotation(oboInOwl:hasDbXref "Orphanet:119"^^xsd:string) Annotation(oboInOwl:hasSynonymType mondo:ABBREVIATION) oboInOwl:hasExactSynonym obo:MONDO_0011423 "LGMD2E"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:604286"^^xsd:string) Annotation(oboInOwl:hasSynonymType mondo:ABBREVIATION) oboInOwl:hasExactSynonym obo:MONDO_0011423 "LGMDR4"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:design_pattern"^^xsd:string) Annotation(oboInOwl:hasDbXref "MONDO:patterns/disease_series_by_gene"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0011423 "SGCB autosomal recessive limb-girdle muscular dystrophy"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:design_pattern"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0011423 "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCB"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:119"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0011423 "autosomal recessive limb-girdle muscular dystrophy type 2E"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:119"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0011423 "beta-sarcoglycan-related LGMD R4"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:119"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0011423 "beta-sarcoglycan-related limb-girdle muscular dystrophy R4"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "DOID:0110279"^^xsd:string) Annotation(oboInOwl:hasDbXref "Orphanet:119"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0011423 "limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "GARD:0003851"^^xsd:string) Annotation(oboInOwl:hasDbXref "Orphanet:119"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0011423 "limb-girdle muscular dystrophy type 2E"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:604286"^^xsd:string) Annotation(oboInOwl:hasDbXref "OMIM:genemap2"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0011423 "muscular dystrophy, limb-girdle, autosomal recessive 4"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "DOID:0110279"^^xsd:string) Annotation(oboInOwl:hasDbXref "MONDO:Lexical"^^xsd:string) Annotation(oboInOwl:hasDbXref "OMIM:604286"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0011423 "muscular dystrophy, limb-girdle, type 2E"^^xsd:string) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "GARD:0003851"^^xsd:string) oboInOwl:hasRelatedSynonym obo:MONDO_0011423 "Beta-sarcoglycan limb-girdle muscular dystrophy"^^xsd:string) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "GARD:0003851"^^xsd:string) oboInOwl:hasRelatedSynonym obo:MONDO_0011423 "limb-girdle muscular dystrophy type 2E"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "GARD:0003851"^^xsd:string) oboInOwl:hasRelatedSynonym obo:MONDO_0011423 "beta-sarcoglycan limb-girdle muscular dystrophy"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "GARD:0003851"^^xsd:string) oboInOwl:hasRelatedSynonym obo:MONDO_0011423 "muscular dystrophy limb-girdle with beta-sarcoglycan deficiency"^^xsd:string) AnnotationAssertion(oboInOwl:id obo:MONDO_0011423 "MONDO:0011423"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "GARD:3851"^^xsd:string) oboInOwl:inSubset obo:MONDO_0011423 mondo:gard_rare) @@ -120493,7 +120559,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:228190"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0011454 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0011454 "patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "Orphanet:228190"^^xsd:string) obo:MONDO_0011454 obo:MONDO_0016432) -SubClassOf(Annotation(oboInOwl:source "MONDO:0015506-obsoleted"^^xsd:string) obo:MONDO_0011454 ) +SubClassOf(obo:MONDO_0011454 obo:MONDO_0100547) # Class: obo:MONDO_0011457 (ataxia-telangiectasia-like disorder) @@ -121206,6 +121272,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:352582"^^xsd:string) ob AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:352582"^^xsd:string) oboInOwl:inSubset obo:MONDO_0011506 mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0011506 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0011506 "familial infantile myoclonic epilepsy"^^xsd:string) +SubClassOf(Annotation(oboInOwl:source "Orphanet:352582"^^xsd:string) obo:MONDO_0011506 obo:MONDO_0015653) SubClassOf(Annotation(oboInOwl:source "DC-OMIM:605021"^^xsd:string) obo:MONDO_0011506 obo:MONDO_0016022) # Class: obo:MONDO_0011510 (Bohring-Opitz syndrome) @@ -121245,7 +121312,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "GARD:0010140"^^xsd:string) rdfs: SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "Orphanet:97297"^^xsd:string) Annotation(oboInOwl:source "https://clinicalgenome.org/affiliation/40060/"^^xsd:string) obo:MONDO_0011510 obo:MONDO_0000508) SubClassOf(obo:MONDO_0011510 obo:MONDO_0002320) SubClassOf(Annotation(oboInOwl:source "Orphanet:97297"^^xsd:string) obo:MONDO_0011510 obo:MONDO_0015159) -SubClassOf(obo:MONDO_0011510 ) +SubClassOf(obo:MONDO_0011510 obo:MONDO_0100545) # Class: obo:MONDO_0011512 (Brooke-Spiegler syndrome) @@ -121318,7 +121385,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:1209"^^xsd:string) oboI AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0011514 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0011514 "tricuspid atresia"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "Orphanet:1209"^^xsd:string) obo:MONDO_0011514 obo:MONDO_0020289) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) obo:MONDO_0011514 ) +SubClassOf(obo:MONDO_0011514 obo:MONDO_0100547) SubClassOf(Annotation(oboInOwl:source "MESH:D018785"^^xsd:string) Annotation(oboInOwl:source "NCIT:C85202"^^xsd:string) obo:MONDO_0011514 ) # Class: obo:MONDO_0011517 (pseudohyperaldosteronism type 2) @@ -121860,6 +121927,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0011551 "TH-deficient dopa-responsive d SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "Orphanet:101150"^^xsd:string) obo:MONDO_0011551 obo:MONDO_0016812) SubClassOf(Annotation(oboInOwl:source "Orphanet:101150"^^xsd:string) obo:MONDO_0011551 obo:MONDO_0017307) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-5655-9589"^^xsd:string) obo:MONDO_0011551 obo:MONDO_0100064) +SubClassOf(obo:MONDO_0011551 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) obo:MONDO_0011551 ) # Class: obo:MONDO_0011555 (radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome) @@ -122671,6 +122739,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0011612 "glycine encephalopathy"^^xsd:s AnnotationAssertion(Annotation(oboInOwl:source "GARD:0007219"^^xsd:string) rdfs:seeAlso obo:MONDO_0011612 "https://rarediseases.info.nih.gov/diseases/7219/glycine-encephalopathy"^^xsd:anyURI) SubClassOf(Annotation(oboInOwl:source "DOID:9268"^^xsd:string) Annotation(oboInOwl:source "MONDO:indirect"^^xsd:string) obo:MONDO_0011612 obo:MONDO_0004736) SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "Orphanet:407"^^xsd:string) obo:MONDO_0011612 obo:MONDO_0019239) +SubClassOf(obo:MONDO_0011612 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "NCIT:C84937"^^xsd:string) obo:MONDO_0011612 ) # Class: obo:MONDO_0011614 (3-hydroxy-3-methylglutaryl-CoA synthase deficiency) @@ -124396,7 +124465,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0011738 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0011738 "bilateral frontoparietal polymicrogyria"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "GARD:0010784"^^xsd:string) rdfs:seeAlso obo:MONDO_0011738 "https://rarediseases.info.nih.gov/diseases/10784/bilateral-frontoparietal-polymicrogyria"^^xsd:anyURI) SubClassOf(Annotation(oboInOwl:source "Orphanet:101070"^^xsd:string) obo:MONDO_0011738 obo:MONDO_0017091) -SubClassOf(obo:MONDO_0011738 ) +SubClassOf(obo:MONDO_0011738 obo:MONDO_0100545) # Class: obo:MONDO_0011740 (Carney-Stratakis syndrome) @@ -124792,6 +124861,7 @@ SubClassOf(obo:MONDO_0011772 obo:MONDO_0002320) SubClassOf(obo:MONDO_0011772 obo:MONDO_0015327) SubClassOf(Annotation(oboInOwl:source "Orphanet:79332"^^xsd:string) obo:MONDO_0011772 obo:MONDO_0017749) SubClassOf(obo:MONDO_0011772 obo:MONDO_0020022) +SubClassOf(obo:MONDO_0011772 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "DC-OMIM:607091"^^xsd:string) Annotation(oboInOwl:source "OMIM:607091"^^xsd:string) obo:MONDO_0011772 ) SubClassOf(obo:MONDO_0011772 ObjectSomeValuesFrom(mondo:disease_has_major_feature obo:MONDO_0020022)) @@ -125130,7 +125200,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0011789 "familial meningioma"^^xsd:stri EquivalentClasses(obo:MONDO_0011789 ObjectIntersectionOf(obo:MONDO_0016642 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021152))) SubClassOf(obo:MONDO_0011789 obo:MONDO_0016642) SubClassOf(Annotation(oboInOwl:source "OMIM:607174"^^xsd:string) obo:MONDO_0011789 obo:MONDO_0020573) -SubClassOf(obo:MONDO_0011789 ) +SubClassOf(obo:MONDO_0011789 obo:MONDO_0100545) # Class: obo:MONDO_0011790 (Amish lethal microcephaly) @@ -125808,7 +125878,6 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0011835 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0011835 "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis"^^xsd:string) SubClassOf(obo:MONDO_0011835 obo:MONDO_0002320) SubClassOf(Annotation(oboInOwl:source "Orphanet:70595"^^xsd:string) obo:MONDO_0011835 obo:MONDO_0009637) -SubClassOf(obo:MONDO_0011835 obo:MONDO_0015653) SubClassOf(Annotation(oboInOwl:source "Orphanet:70595"^^xsd:string) obo:MONDO_0011835 obo:MONDO_0016798) SubClassOf(obo:MONDO_0011835 obo:MONDO_0020127) SubClassOf(obo:MONDO_0011835 obo:MONDO_0100033) @@ -125955,6 +126024,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:199348"^^xsd:string) An AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0011841 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0011841 "biotin-responsive basal ganglia disease"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "DC-OMIM:607483"^^xsd:string) Annotation(oboInOwl:source "OMIM:607483"^^xsd:string) obo:MONDO_0011841 obo:MONDO_0000152) +SubClassOf(obo:MONDO_0011841 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "https://github.com/monarch-initiative/mondo/issues/1520"^^xsd:string) Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) obo:MONDO_0011841 ) SubClassOf(Annotation(oboInOwl:source "DOID:0050659"^^xsd:string) Annotation(oboInOwl:source "MESH:C537658"^^xsd:string) Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) obo:MONDO_0011841 ) @@ -126322,44 +126392,15 @@ SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^x SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-5002-8648"^^xsd:string) obo:MONDO_0011874 obo:MONDO_0015947) SubClassOf(Annotation(oboInOwl:source "Orphanet:59303"^^xsd:string) obo:MONDO_0011874 ) -# Class: obo:MONDO_0011876 (juvenile absence epilepsy) +# Class: obo:MONDO_0011876 (obsolete juvenile absence epilepsy) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:1941"^^xsd:string) obo:IAO_0000115 obo:MONDO_0011876 "Juvenile absence epilepsy (JAE) is a genetic epilepsy with onset occurring around puberty. JAE is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks."^^xsd:string) +AnnotationAssertion(obo:IAO_0000231 obo:MONDO_0011876 obo:IAO_0000229) AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0011876 "https://github.com/monarch-initiative/mondo/issues/6897"^^xsd:anyURI) -AnnotationAssertion(obo:IAO_0006012 obo:MONDO_0011876 "2024-02-01"^^xsd:string) -AnnotationAssertion(mondo:exactMatch obo:MONDO_0011876 ) -AnnotationAssertion(mondo:exactMatch obo:MONDO_0011876 ) -AnnotationAssertion(mondo:exactMatch obo:MONDO_0011876 obo:DOID_0060172) -AnnotationAssertion(mondo:exactMatch obo:MONDO_0011876 obo:NCIT_C129868) -AnnotationAssertion(mondo:exactMatch obo:MONDO_0011876 obo:Orphanet_1941) -AnnotationAssertion(mondo:exactMatch obo:MONDO_0011876 ) -AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0011876 "DOID:0060172"^^xsd:string) -AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:1941"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0011876 "GARD:2162"^^xsd:string) -AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0011876 "NCIT:C129868"^^xsd:string) -AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0011876 "OMIMPS:607631"^^xsd:string) -AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) Annotation(oboInOwl:source "OMIM:607631"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0011876 "Orphanet:1941"^^xsd:string) -AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0011876 "SCTID:230413002"^^xsd:string) -AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0011876 "UMLS:C4317339"^^xsd:string) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:1941"^^xsd:string) Annotation(oboInOwl:hasSynonymType mondo:ABBREVIATION) oboInOwl:hasExactSynonym obo:MONDO_0011876 "JAE"^^xsd:string) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDORULE:1"^^xsd:string) Annotation(oboInOwl:hasDbXref "OMIM:607631"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0011876 "epilepsy, juvenile absence, susceptibility to, type 1"^^xsd:string) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:607631"^^xsd:string) Annotation(oboInOwl:hasSynonymType mondo:ABBREVIATION) oboInOwl:hasRelatedSynonym obo:MONDO_0011876 "EJA1"^^xsd:string) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "GARD:0002162"^^xsd:string) oboInOwl:hasRelatedSynonym obo:MONDO_0011876 "epilepsy juvenile absence"^^xsd:string) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:Lexical"^^xsd:string) Annotation(oboInOwl:hasDbXref "OMIM:607631"^^xsd:string) oboInOwl:hasRelatedSynonym obo:MONDO_0011876 "epilepsy, juvenile absence, susceptibility to, 1"^^xsd:string) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:607631"^^xsd:string) oboInOwl:hasRelatedSynonym obo:MONDO_0011876 "susceptibility to juvenile absence epilepsy 1"^^xsd:string) +AnnotationAssertion(oboInOwl:consider obo:MONDO_0011876 "MONDO:0020772"^^xsd:string) +AnnotationAssertion(oboInOwl:consider obo:MONDO_0011876 "MONDO:0800453"^^xsd:string) AnnotationAssertion(oboInOwl:id obo:MONDO_0011876 "MONDO:0011876"^^xsd:string) -AnnotationAssertion(Annotation(oboInOwl:source "GARD:2162"^^xsd:string) oboInOwl:inSubset obo:MONDO_0011876 mondo:gard_rare) -AnnotationAssertion(Annotation(oboInOwl:source "MONDO:NORD"^^xsd:string) oboInOwl:inSubset obo:MONDO_0011876 mondo:nord_rare) -AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0011876 mondo:obsoletion_candidate) -AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:1941"^^xsd:string) oboInOwl:inSubset obo:MONDO_0011876 mondo:ordo_disease) -AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:1941"^^xsd:string) oboInOwl:inSubset obo:MONDO_0011876 mondo:orphanet_rare) -AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0011876 mondo:predisposition) -AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0011876 mondo:rare) -AnnotationAssertion(rdfs:comment obo:MONDO_0011876 "This will be obsoleted in the 2024-02-01 release. The term will be split and the new ID for this term will be MONDO:0800453 (juvenile absence epilepsy), and MONDO:0800454 (epilepsy, juvenile absence, susceptibility to, 1)."^^xsd:string) -AnnotationAssertion(rdfs:label obo:MONDO_0011876 "juvenile absence epilepsy"^^xsd:string) -SubClassOf(obo:MONDO_0011876 obo:MONDO_0015653) -SubClassOf(Annotation(oboInOwl:source "OMIM:607631"^^xsd:string) obo:MONDO_0011876 obo:MONDO_0020573) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-8486-0558"^^xsd:string) obo:MONDO_0011876 obo:MONDO_0100030) -SubClassOf(obo:MONDO_0011876 ObjectSomeValuesFrom(mondo:predisposes_towards obo:MONDO_0011876)) +AnnotationAssertion(rdfs:label obo:MONDO_0011876 "obsolete juvenile absence epilepsy"^^xsd:string) +AnnotationAssertion(owl:deprecated obo:MONDO_0011876 "true"^^xsd:boolean) # Class: obo:MONDO_0011877 (autosomal dominant osteopetrosis 1) @@ -128674,7 +128715,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:75374"^^xsd:string) obo AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0012033 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0012033 "bradyopsia"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "GARD:0012299"^^xsd:string) rdfs:seeAlso obo:MONDO_0012033 "https://rarediseases.info.nih.gov/diseases/12299/bradyopsia"^^xsd:anyURI) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-5002-8648"^^xsd:string) obo:MONDO_0012033 ) +SubClassOf(obo:MONDO_0012033 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "DOID:0050335"^^xsd:string) Annotation(oboInOwl:source "MONDO:indirect"^^xsd:string) obo:MONDO_0012033 ) # Class: obo:MONDO_0012034 (autosomal dominant limb-girdle muscular dystrophy type 1F) @@ -128935,7 +128976,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0012061 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0012061 "familial sick sinus syndrome"^^xsd:string) EquivalentClasses(obo:MONDO_0012061 ObjectIntersectionOf(obo:MONDO_0001823 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021152))) SubClassOf(Annotation(oboInOwl:source "DC-OMIM:608567"^^xsd:string) Annotation(oboInOwl:source "MESH:C563907"^^xsd:string) Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "OMIM:608567"^^xsd:string) obo:MONDO_0012061 obo:MONDO_0001823) -SubClassOf(obo:MONDO_0012061 ) +SubClassOf(obo:MONDO_0012061 obo:MONDO_0100547) # Class: obo:MONDO_0012062 (dilated cardiomyopathy 1O) @@ -130126,6 +130167,7 @@ SubClassOf(Annotation(oboInOwl:source "Orphanet:168577"^^xsd:string) Annotation( SubClassOf(obo:MONDO_0012143 obo:MONDO_0003689) SubClassOf(Annotation(oboInOwl:source "PMID:33340416"^^xsd:string) obo:MONDO_0012143 obo:MONDO_0017706) SubClassOf(Annotation(oboInOwl:source "Orphanet:168577"^^xsd:string) obo:MONDO_0012143 obo:MONDO_0020102) +SubClassOf(obo:MONDO_0012143 obo:MONDO_0100545) # Class: obo:MONDO_0012155 (choanal atresia) @@ -130748,6 +130790,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0012192 "permanent neonatal diabetes me SubClassOf(obo:MONDO_0012192 obo:MONDO_0015327) SubClassOf(Annotation(oboInOwl:source "Orphanet:65288"^^xsd:string) obo:MONDO_0012192 obo:MONDO_0016391) SubClassOf(obo:MONDO_0012192 obo:MONDO_0020022) +SubClassOf(obo:MONDO_0012192 obo:MONDO_0100545) SubClassOf(obo:MONDO_0012192 ObjectSomeValuesFrom(mondo:disease_has_major_feature obo:MONDO_0020022)) # Class: obo:MONDO_0012193 (autosomal dominant limb-girdle muscular dystrophy type 1G) @@ -132034,10 +132077,11 @@ SubClassOf(Annotation(oboInOwl:source "Orphanet:98912"^^xsd:string) obo:MONDO_00 SubClassOf(Annotation(oboInOwl:source "Orphanet:98912"^^xsd:string) obo:MONDO_0012277 obo:MONDO_0016190) SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "OMIM:609452"^^xsd:string) Annotation(oboInOwl:source "Orphanet:98912"^^xsd:string) obo:MONDO_0012277 obo:MONDO_0018943) -# Class: obo:MONDO_0012280 (Goldberg-Shprintzen megacolon syndrome) +# Class: obo:MONDO_0012280 (Goldberg-Shprintzen syndrome) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:66629"^^xsd:string) obo:IAO_0000115 obo:MONDO_0012280 "Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability."^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:66629"^^xsd:string) obo:IAO_0000115 obo:MONDO_0012280 "A multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability."^^xsd:string) AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0012280 "https://github.com/monarch-initiative/mondo/issues/5588"^^xsd:anyURI) +AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0012280 "https://github.com/monarch-initiative/mondo/issues/6456"^^xsd:anyURI) AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0012280 "https://github.com/monarch-initiative/mondo/issues/6744"^^xsd:anyURI) AnnotationAssertion(mondo:exactMatch obo:MONDO_0012280 ) AnnotationAssertion(mondo:exactMatch obo:MONDO_0012280 ) @@ -132054,9 +132098,9 @@ AnnotationAssertion(Annotation(oboInOwl:source "DOID:0060481"^^xsd:string) Annot AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0012280 "SCTID:717822006"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "DOID:0060481"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) Annotation(oboInOwl:source "MONDO:ncbi_mim2gene_medline"^^xsd:string) Annotation(oboInOwl:source "OMIM:609460"^^xsd:string) Annotation(oboInOwl:source "Orphanet:66629"^^xsd:string) Annotation(oboInOwl:source "Orphanet:66629/e"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0012280 "UMLS:C1836123"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:Lexical"^^xsd:string) Annotation(oboInOwl:hasDbXref "OMIM:609460"^^xsd:string) Annotation(oboInOwl:hasDbXref "Orphanet:66629"^^xsd:string) Annotation(oboInOwl:hasSynonymType mondo:ABBREVIATION) oboInOwl:hasExactSynonym obo:MONDO_0012280 "GOSHS"^^xsd:string) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "DOID:0060481"^^xsd:string) Annotation(oboInOwl:hasDbXref "OMIM:609460"^^xsd:string) Annotation(oboInOwl:hasSynonymType mondo:CLINGEN_LABEL) oboInOwl:hasExactSynonym obo:MONDO_0012280 "Goldberg-Shprintzen megacolon syndrome"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "DOID:0060481"^^xsd:string) Annotation(oboInOwl:hasDbXref "OMIM:609460"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0012280 "Goldberg-Shprintzen megacolon syndrome"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:Lexical"^^xsd:string) Annotation(oboInOwl:hasDbXref "OMIM:609460"^^xsd:string) Annotation(oboInOwl:hasDbXref "https://www.clinicalgenome.org/affiliation/40020/"^^xsd:string) Annotation(oboInOwl:hasSynonymType mondo:CLINGEN_LABEL) oboInOwl:hasExactSynonym obo:MONDO_0012280 "Goldberg-Shprintzen syndrome"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:66629"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0012280 "megacolon-microcephaly syndrome"^^xsd:string) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:Lexical"^^xsd:string) Annotation(oboInOwl:hasDbXref "OMIM:609460"^^xsd:string) oboInOwl:hasRelatedSynonym obo:MONDO_0012280 "Goldberg-Shprintzen syndrome"^^xsd:string) AnnotationAssertion(oboInOwl:id obo:MONDO_0012280 "MONDO:0012280"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "GARD:9849"^^xsd:string) oboInOwl:inSubset obo:MONDO_0012280 mondo:gard_rare) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:NORD"^^xsd:string) oboInOwl:inSubset obo:MONDO_0012280 mondo:nord_rare) @@ -132064,7 +132108,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:66629"^^xsd:string) obo AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:66629"^^xsd:string) oboInOwl:inSubset obo:MONDO_0012280 mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0012280 mondo:rare) AnnotationAssertion(rdfs:comment obo:MONDO_0012280 "This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'disorder of visual system' (MONDO:0024458) ontology branch (https://orcid.org/0000-0001-9310-0163)"^^xsd:string) -AnnotationAssertion(rdfs:label obo:MONDO_0012280 "Goldberg-Shprintzen megacolon syndrome"^^xsd:string) +AnnotationAssertion(rdfs:label obo:MONDO_0012280 "Goldberg-Shprintzen syndrome"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) obo:MONDO_0012280 obo:MONDO_0002254) SubClassOf(Annotation(oboInOwl:source "Orphanet:66629"^^xsd:string) obo:MONDO_0012280 obo:MONDO_0015159) SubClassOf(Annotation(oboInOwl:source "Orphanet:66629"^^xsd:string) obo:MONDO_0012280 obo:MONDO_0021189) @@ -132132,6 +132176,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0012289 "myofibrillar myopathy 5"^^xsd: SubClassOf(obo:MONDO_0012289 obo:MONDO_0002320) SubClassOf(Annotation(oboInOwl:source "Orphanet:171445"^^xsd:string) obo:MONDO_0012289 obo:MONDO_0016189) SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "OMIM:609524"^^xsd:string) Annotation(oboInOwl:source "Orphanet:171445"^^xsd:string) obo:MONDO_0012289 obo:MONDO_0018943) +SubClassOf(obo:MONDO_0012289 obo:MONDO_0100545) # Class: obo:MONDO_0012290 (CEDNIK syndrome) @@ -133050,6 +133095,7 @@ AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0012391 "https://github.com/monarc AnnotationAssertion(mondo:broadMatch obo:MONDO_0012391 ) AnnotationAssertion(mondo:exactMatch obo:MONDO_0012391 obo:DOID_0110724) AnnotationAssertion(mondo:exactMatch obo:MONDO_0012391 obo:Orphanet_1947) +AnnotationAssertion(mondo:exactMatch obo:MONDO_0012391 obo:Orphanet_530298) AnnotationAssertion(mondo:exactMatch obo:MONDO_0012391 ) AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:1947"^^xsd:string) Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) mondo:excluded_subClassOf obo:MONDO_0012391 obo:MONDO_0020074) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0012391 "DOID:0110724"^^xsd:string) @@ -133057,6 +133103,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:1947"^^xsd:string) oboI AnnotationAssertion(Annotation(oboInOwl:source "MONDO:mondoIsNarrowerThanSource"^^xsd:string) Annotation(oboInOwl:source "Orphanet:530298"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0012391 "ICD10CM:G40.3"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "DOID:0110724"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) Annotation(oboInOwl:source "Orphanet:1947"^^xsd:string) Annotation(oboInOwl:source "Orphanet:1947/e"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0012391 "OMIM:610003"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "DOID:0110724"^^xsd:string) Annotation(oboInOwl:source "GARD:0004010"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) Annotation(oboInOwl:source "OMIM:610003"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0012391 "Orphanet:1947"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0012391 "Orphanet:530298"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:1947"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0012391 "CLN8 disease, Northern epilepsy variant"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "DOID:0110724"^^xsd:string) Annotation(oboInOwl:hasSynonymType mondo:ABBREVIATION) oboInOwl:hasExactSynonym obo:MONDO_0012391 "EPMR"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:1947"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0012391 "NCL, Northern epilepsy variant"^^xsd:string) @@ -133089,6 +133136,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0012391 "neuronal ceroid lipofuscinosis AnnotationAssertion(Annotation(oboInOwl:source "GARD:0002163"^^xsd:string) rdfs:seeAlso obo:MONDO_0012391 "https://rarediseases.info.nih.gov/diseases/2163/epilepsy-mental-deterioration-finnish-type"^^xsd:anyURI) AnnotationAssertion(Annotation(oboInOwl:source "GARD:0004010"^^xsd:string) rdfs:seeAlso obo:MONDO_0012391 "https://rarediseases.info.nih.gov/diseases/4010/northern-epilepsy"^^xsd:anyURI) SubClassOf(obo:MONDO_0012391 obo:MONDO_0010830) +SubClassOf(Annotation(oboInOwl:source "Orphanet:1947"^^xsd:string) obo:MONDO_0012391 obo:MONDO_0015653) SubClassOf(obo:MONDO_0012391 obo:MONDO_0015905) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) Annotation(oboInOwl:source "https://orcid.org/0000-0002-4142-7153"^^xsd:string) obo:MONDO_0012391 obo:MONDO_0020074) @@ -133350,9 +133398,9 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:79096"^^xsd:string) obo AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:79096"^^xsd:string) oboInOwl:inSubset obo:MONDO_0012407 mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0012407 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0012407 "pyridoxal phosphate-responsive seizures"^^xsd:string) -SubClassOf(obo:MONDO_0012407 obo:MONDO_0015653) SubClassOf(Annotation(oboInOwl:source "Orphanet:79096"^^xsd:string) obo:MONDO_0012407 obo:MONDO_0019237) SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "https://orcid.org/0000-0001-8486-0558"^^xsd:string) obo:MONDO_0012407 obo:MONDO_0100033) +SubClassOf(obo:MONDO_0012407 obo:MONDO_0100545) # Class: obo:MONDO_0012410 (Finnish upper limb-onset distal myopathy) @@ -135404,7 +135452,7 @@ AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:610947"^^xsd:string) Ann AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:Lexical"^^xsd:string) Annotation(oboInOwl:hasDbXref "OMIM:610947"^^xsd:string) Annotation(oboInOwl:hasSynonymType mondo:ABBREVIATION) oboInOwl:hasRelatedSynonym obo:MONDO_0012586 "ADCAD2"^^xsd:string) AnnotationAssertion(oboInOwl:id obo:MONDO_0012586 "MONDO:0012586"^^xsd:string) AnnotationAssertion(rdfs:label obo:MONDO_0012586 "coronary artery disease, autosomal dominant 2"^^xsd:string) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) obo:MONDO_0012586 ) +SubClassOf(obo:MONDO_0012586 obo:MONDO_0100547) SubClassOf(Annotation(oboInOwl:source "DC-OMIM:610947"^^xsd:string) Annotation(oboInOwl:source "MESH:C567045"^^xsd:string) Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) obo:MONDO_0012586 ) # Class: obo:MONDO_0012588 (neuronal ceroid lipofuscinosis 7) @@ -135572,7 +135620,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0012593 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0012593 "brain-lung-thyroid syndrome"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "GARD:0012163"^^xsd:string) rdfs:seeAlso obo:MONDO_0012593 "https://rarediseases.info.nih.gov/diseases/12163/brain-lung-thyroid-syndrome"^^xsd:anyURI) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-5002-8648"^^xsd:string) obo:MONDO_0012593 obo:MONDO_0002254) -SubClassOf(obo:MONDO_0012593 ) +SubClassOf(obo:MONDO_0012593 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-9310-0163"^^xsd:string) obo:MONDO_0012593 ) SubClassOf(obo:MONDO_0012593 ) SubClassOf(Annotation(oboInOwl:source "MONDO:0015983"^^xsd:string) obo:MONDO_0012593 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021136)) @@ -135753,6 +135801,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:500533"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0012611 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0012611 "polyhydramnios, megalencephaly, and symptomatic epilepsy"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "Orphanet:500533"^^xsd:string) obo:MONDO_0012611 obo:MONDO_0015653) +SubClassOf(obo:MONDO_0012611 obo:MONDO_0100545) # Class: obo:MONDO_0012621 (deafness-infertility syndrome) @@ -135948,7 +135997,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0012637 "COG1-congenital disorder of gl SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-4142-7153"^^xsd:string) obo:MONDO_0012637 obo:MONDO_0002254) SubClassOf(obo:MONDO_0012637 obo:MONDO_0015327) SubClassOf(Annotation(oboInOwl:source "Orphanet:263508"^^xsd:string) obo:MONDO_0012637 obo:MONDO_0017750) -SubClassOf(Annotation(oboInOwl:source "MONDO:0018290-obsoleted"^^xsd:string) obo:MONDO_0012637 ) +SubClassOf(obo:MONDO_0012637 obo:MONDO_0100547) SubClassOf(Annotation(oboInOwl:source "DC-OMIM:611209"^^xsd:string) Annotation(oboInOwl:source "OMIM:611209"^^xsd:string) obo:MONDO_0012637 ) # Class: obo:MONDO_0012638 (microphthalmia-brain atrophy syndrome) @@ -136519,6 +136568,7 @@ SubClassOf(Annotation(oboInOwl:source "MONDO:0015971"^^xsd:string) obo:MONDO_001 AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:patterns/disease_series_by_gene"^^xsd:string) obo:IAO_0000115 obo:MONDO_0012676 "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the CLCN7 gene."^^xsd:string) AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0012676 "https://github.com/monarch-initiative/mondo/issues/4948"^^xsd:anyURI) +AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0012676 "https://github.com/monarch-initiative/mondo/issues/7165"^^xsd:anyURI) AnnotationAssertion(mondo:exactMatch obo:MONDO_0012676 ) AnnotationAssertion(mondo:exactMatch obo:MONDO_0012676 obo:DOID_0110944) AnnotationAssertion(mondo:exactMatch obo:MONDO_0012676 ) @@ -136528,6 +136578,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "DOID:0110944"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0012676 "OMIM:611490"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:design_pattern"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0012676 "CLCN7 autosomal recessive malignant osteopetrosis"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:patterns/disease_series_by_gene"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0012676 "CLCN7 autosomal recessive osteopetrosis"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "https://clinicalgenome.org/affiliation/40065/"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0012676 "CLCN7-related osteopetrosis"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "DOID:0110944"^^xsd:string) Annotation(oboInOwl:hasDbXref "MONDO:Lexical"^^xsd:string) Annotation(oboInOwl:hasDbXref "OMIM:611490"^^xsd:string) Annotation(oboInOwl:hasSynonymType mondo:ABBREVIATION) oboInOwl:hasExactSynonym obo:MONDO_0012676 "OPTB4"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:design_pattern"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0012676 "autosomal recessive malignant osteopetrosis caused by mutation in CLCN7"^^xsd:string) AnnotationAssertion(oboInOwl:hasExactSynonym obo:MONDO_0012676 "autosomal recessive osteopetrosis caused by mutation in CLCN7"^^xsd:string) @@ -136881,7 +136932,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0012714 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0012714 "early-onset myopathy with fatal cardiomyopathy"^^xsd:string) SubClassOf(obo:MONDO_0012714 obo:MONDO_0016333) SubClassOf(Annotation(oboInOwl:source "https://clinicalgenome.org/affiliation/40031/"^^xsd:string) obo:MONDO_0012714 obo:MONDO_0100493) -SubClassOf(obo:MONDO_0012714 ) +SubClassOf(obo:MONDO_0012714 obo:MONDO_0100546) # Class: obo:MONDO_0012716 (spondyloepiphyseal dysplasia, Cantu type) @@ -139987,7 +140038,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0012986 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0012986 "bilateral parasagittal parieto-occipital polymicrogyria"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "GARD:0010785"^^xsd:string) rdfs:seeAlso obo:MONDO_0012986 "https://rarediseases.info.nih.gov/diseases/10785/bilateral-parasagittal-parieto-occipital-polymicrogyria"^^xsd:anyURI) SubClassOf(Annotation(oboInOwl:source "Orphanet:208441"^^xsd:string) obo:MONDO_0012986 obo:MONDO_0017091) -SubClassOf(obo:MONDO_0012986 ) +SubClassOf(obo:MONDO_0012986 obo:MONDO_0100545) # Class: obo:MONDO_0012988 (hypogonadotropic hypogonadism 6 with or without anosmia) @@ -141598,6 +141649,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "GARD:0002252"^^xsd:string) rdfs: EquivalentClasses(obo:MONDO_0013099 ObjectIntersectionOf( ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021152))) SubClassOf(obo:MONDO_0013099 obo:MONDO_0002320) SubClassOf(Annotation(oboInOwl:source "MONDO:0015891-obsoleted"^^xsd:string) Annotation(oboInOwl:source "https://github.com/monarch-initiative/mondo/pull/2571/"^^xsd:string) obo:MONDO_0013099 obo:MONDO_0015770) +SubClassOf(obo:MONDO_0013099 obo:MONDO_0100545) SubClassOf(obo:MONDO_0013099 ) # Class: obo:MONDO_0013110 (neurodegenerative syndrome due to cerebral folate transport deficiency) @@ -143048,6 +143100,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0013208 "cirrhosis - dystonia - polycyt SubClassOf(Annotation(oboInOwl:source "DC-OMIM:613280"^^xsd:string) Annotation(oboInOwl:source "OMIM:613280"^^xsd:string) obo:MONDO_0013208 obo:MONDO_0000214) SubClassOf(Annotation(oboInOwl:source "Orphanet:309854"^^xsd:string) obo:MONDO_0013208 obo:MONDO_0017766) SubClassOf(Annotation(oboInOwl:source "MONDO:0017661-obsoleted"^^xsd:string) obo:MONDO_0013208 obo:MONDO_0021095) +SubClassOf(obo:MONDO_0013208 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "MONDO:0015115"^^xsd:string) obo:MONDO_0013208 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021136)) # Class: obo:MONDO_0013211 (dilated cardiomyopathy 1FF) @@ -144912,7 +144965,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:402364"^^xsd:string) ob AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:402364"^^xsd:string) oboInOwl:inSubset obo:MONDO_0013351 mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0013351 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0013351 "infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly"^^xsd:string) -SubClassOf(obo:MONDO_0013351 ) +SubClassOf(obo:MONDO_0013351 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) obo:MONDO_0013351 ) # Class: obo:MONDO_0013352 (intellectual disability-severe speech delay-mild dysmorphism syndrome) @@ -144942,7 +144995,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0013352 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0013352 "intellectual disability-severe speech delay-mild dysmorphism syndrome"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "GARD:0012501"^^xsd:string) rdfs:seeAlso obo:MONDO_0013352 "https://rarediseases.info.nih.gov/diseases/12501/intellectual-disability-severe-speech-delay-mild-dysmorphism-syndrome"^^xsd:anyURI) SubClassOf(Annotation(oboInOwl:source "Orphanet:391372"^^xsd:string) Annotation(oboInOwl:source "https://clinicalgenome.org/affiliation/40060/"^^xsd:string) obo:MONDO_0013352 obo:MONDO_0000508) -SubClassOf(obo:MONDO_0013352 ) +SubClassOf(obo:MONDO_0013352 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "MONDO:0015983"^^xsd:string) obo:MONDO_0013352 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021136)) # Class: obo:MONDO_0013354 (spastic ataxia 4) @@ -147605,7 +147658,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:280640"^^xsd:string) ob AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:280640"^^xsd:string) oboInOwl:inSubset obo:MONDO_0013583 mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0013583 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0013583 "occipital pachygyria and polymicrogyria"^^xsd:string) -SubClassOf(obo:MONDO_0013583 ) +SubClassOf(obo:MONDO_0013583 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-4142-7153"^^xsd:string) obo:MONDO_0013583 ) # Class: obo:MONDO_0013584 (hereditary sensory neuropathy-deafness-dementia syndrome) @@ -148187,8 +148240,8 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:284247"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0013640 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0013640 "familial retinal arterial macroaneurysm"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-4142-7153"^^xsd:string) obo:MONDO_0013640 obo:MONDO_0002311) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-5002-8648"^^xsd:string) obo:MONDO_0013640 ) -SubClassOf(Annotation(oboInOwl:source "MONDO:0015506-obsoleted"^^xsd:string) obo:MONDO_0013640 ) +SubClassOf(obo:MONDO_0013640 obo:MONDO_0100545) +SubClassOf(obo:MONDO_0013640 obo:MONDO_0100547) SubClassOf(Annotation(oboInOwl:source "MONDO:0019110"^^xsd:string) obo:MONDO_0013640 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021136)) # Class: obo:MONDO_0013643 (hyperuricemic nephropathy, familial juvenile type 3) @@ -148786,7 +148839,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0013696 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0013696 "chromosome 2p16.3 deletion syndrome"^^xsd:string) SubClassOf(obo:MONDO_0013696 obo:MONDO_0005090) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-4142-7153"^^xsd:string) obo:MONDO_0013696 obo:MONDO_0016884) -SubClassOf(obo:MONDO_0013696 ) +SubClassOf(obo:MONDO_0013696 obo:MONDO_0100545) # Class: obo:MONDO_0013700 (pancreatic triacylglycerol lipase deficiency) @@ -149872,6 +149925,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:435845"^^xsd:string) ob AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:435845"^^xsd:string) oboInOwl:inSubset obo:MONDO_0013784 mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0013784 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0013784 "neonatal-onset encephalopathy with rigidity and seizures"^^xsd:string) +SubClassOf(Annotation(oboInOwl:source "EFO:0009144"^^xsd:string) Annotation(oboInOwl:source "Orphanet:435845"^^xsd:string) obo:MONDO_0013784 obo:MONDO_0015653) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-5751-2224"^^xsd:string) obo:MONDO_0013784 obo:MONDO_0100062) # Class: obo:MONDO_0013789 (DDOST-congenital disorder of glycosylation) @@ -150905,6 +150959,7 @@ SubClassOf(Annotation(oboInOwl:source "PMID:31633310"^^xsd:string) obo:MONDO_001 # Class: obo:MONDO_0013875 (3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:patterns/disease_series_by_gene"^^xsd:string) obo:IAO_0000115 obo:MONDO_0013875 "Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the SERAC1 gene."^^xsd:string) +AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0013875 "https://github.com/monarch-initiative/mondo/issues/7274"^^xsd:anyURI) AnnotationAssertion(mondo:exactMatch obo:MONDO_0013875 ) AnnotationAssertion(mondo:exactMatch obo:MONDO_0013875 ) AnnotationAssertion(mondo:exactMatch obo:MONDO_0013875 obo:DOID_0110001) @@ -150941,6 +150996,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0013875 "3-methylglutaconic aciduria wi SubClassOf(obo:MONDO_0013875 obo:MONDO_0004069) SubClassOf(Annotation(oboInOwl:source "DC-OMIM:614739"^^xsd:string) Annotation(oboInOwl:source "DOID:0110001"^^xsd:string) Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "OMIM:614739"^^xsd:string) Annotation(oboInOwl:source "Orphanet:352328"^^xsd:string) obo:MONDO_0013875 obo:MONDO_0017359) SubClassOf(obo:MONDO_0013875 obo:MONDO_0018117) +SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-9698-992X"^^xsd:string) obo:MONDO_0013875 obo:MONDO_0100548) # Class: obo:MONDO_0013877 (mitochondrial pyruvate carrier deficiency) @@ -151364,6 +151420,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0013907 "bilateral generalized polymicr AnnotationAssertion(Annotation(oboInOwl:source "GARD:0010786"^^xsd:string) rdfs:seeAlso obo:MONDO_0013907 "https://rarediseases.info.nih.gov/diseases/10786/bilateral-generalized-polymicrogyria"^^xsd:anyURI) SubClassOf(Annotation(oboInOwl:source "Orphanet:208447"^^xsd:string) obo:MONDO_0013907 obo:MONDO_0017091) SubClassOf(obo:MONDO_0013907 obo:MONDO_0018764) +SubClassOf(obo:MONDO_0013907 obo:MONDO_0100545) # Class: obo:MONDO_0013918 (distal tetrasomy 15q) @@ -152126,7 +152183,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:324321"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0013960 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0013960 "sinoatrial node dysfunction and deafness"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) obo:MONDO_0013960 obo:MONDO_0007263) -SubClassOf(obo:MONDO_0013960 ) +SubClassOf(obo:MONDO_0013960 obo:MONDO_0100547) SubClassOf(obo:MONDO_0013960 ObjectSomeValuesFrom(obo:RO_0004029 obo:MONDO_0000469)) # Class: obo:MONDO_0013962 (hereditary spastic paraplegia 53) @@ -152390,7 +152447,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:319189"^^xsd:string) ob AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:319189"^^xsd:string) oboInOwl:inSubset obo:MONDO_0013981 mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0013981 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0013981 "myoclonus, familial"^^xsd:string) -SubClassOf(obo:MONDO_0013981 ) +SubClassOf(obo:MONDO_0013981 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-4142-7153"^^xsd:string) obo:MONDO_0013981 ) # Class: obo:MONDO_0013986 (combined oxidative phosphorylation defect type 14) @@ -152461,7 +152518,7 @@ AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:614954"^^xsd:string) obo AnnotationAssertion(oboInOwl:id obo:MONDO_0013988 "MONDO:0013988"^^xsd:string) AnnotationAssertion(rdfs:label obo:MONDO_0013988 "congenital heart defects, multiple types, 3"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "DC-OMIM:614954"^^xsd:string) obo:MONDO_0013988 obo:MONDO_0000119) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) obo:MONDO_0013988 ) +SubClassOf(obo:MONDO_0013988 obo:MONDO_0100547) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-4142-7153"^^xsd:string) obo:MONDO_0013988 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021140)) # Class: obo:MONDO_0013989 (developmental and epileptic encephalopathy, 14) @@ -155165,7 +155222,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:397964"^^xsd:string) ob AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:397964"^^xsd:string) oboInOwl:inSubset obo:MONDO_0014197 mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0014197 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0014197 "combined immunodeficiency due to MALT1 deficiency"^^xsd:string) -SubClassOf(Annotation(oboInOwl:source "OMIM:615468"^^xsd:string) obo:MONDO_0014197 obo:MONDO_0021094) +SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-4142-7153"^^xsd:string) obo:MONDO_0014197 obo:MONDO_0015131) # Class: obo:MONDO_0014198 (mitochondrial DNA depletion syndrome 13) @@ -155403,7 +155460,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:356996"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0014210 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0014210 "intellectual disability-hypotonia-spasticity-sleep disorder syndrome"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "Orphanet:356996"^^xsd:string) Annotation(oboInOwl:source "https://clinicalgenome.org/affiliation/40060/"^^xsd:string) obo:MONDO_0014210 obo:MONDO_0000508) -SubClassOf(obo:MONDO_0014210 ) +SubClassOf(obo:MONDO_0014210 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "MONDO:0015983"^^xsd:string) obo:MONDO_0014210 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021136)) # Class: obo:MONDO_0014212 (sulfite oxidase deficiency due to molybdenum cofactor deficiency type C) @@ -155968,7 +156025,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:397685"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0014250 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0014250 "familial hyperprolactinemia"^^xsd:string) EquivalentClasses(obo:MONDO_0014250 ObjectIntersectionOf( ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021152))) -SubClassOf(obo:MONDO_0014250 ) +SubClassOf(obo:MONDO_0014250 obo:MONDO_0100545) SubClassOf(obo:MONDO_0014250 ) # Class: obo:MONDO_0014252 (familial hypobetalipoproteinemia 1) @@ -156104,8 +156161,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0014263 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0014263 "8q24.3 microdeletion syndrome"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "Orphanet:508488"^^xsd:string) obo:MONDO_0014263 obo:MONDO_0015159) SubClassOf(Annotation(oboInOwl:source "Orphanet:508488"^^xsd:string) obo:MONDO_0014263 obo:MONDO_0016907) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) obo:MONDO_0014263 ) -SubClassOf(Annotation(oboInOwl:source "MONDO:0015506-obsoleted"^^xsd:string) obo:MONDO_0014263 ) +SubClassOf(obo:MONDO_0014263 obo:MONDO_0100547) # Class: obo:MONDO_0014267 (severe combined immunodeficiency due to IKK2 deficiency) @@ -156164,7 +156220,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:431149"^^xsd:string) ob AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:431149"^^xsd:string) oboInOwl:inSubset obo:MONDO_0014268 mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0014268 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0014268 "combined immunodeficiency due to OX40 deficiency"^^xsd:string) -SubClassOf(Annotation(oboInOwl:source "OMIM:615593"^^xsd:string) obo:MONDO_0014268 obo:MONDO_0021094) +SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-4142-7153"^^xsd:string) obo:MONDO_0014268 obo:MONDO_0015131) # Class: obo:MONDO_0014269 (combined oxidative phosphorylation deficiency 19) @@ -156378,7 +156434,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:169082"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0014276 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0014276 "combined immunodeficiency due to CD3gamma deficiency"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "GARD:0009521"^^xsd:string) rdfs:seeAlso obo:MONDO_0014276 "https://rarediseases.info.nih.gov/diseases/9521/cd3-deficiency"^^xsd:anyURI) -SubClassOf(Annotation(oboInOwl:source "OMIM:615607"^^xsd:string) obo:MONDO_0014276 obo:MONDO_0021094) +SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-4142-7153"^^xsd:string) obo:MONDO_0014276 obo:MONDO_0015131) # Class: obo:MONDO_0014278 (immunodeficiency 18) @@ -156645,6 +156701,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:401768"^^xsd:string) ob AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:401768"^^xsd:string) oboInOwl:inSubset obo:MONDO_0014300 mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0014300 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0014300 "proximal myopathy with extrapyramidal signs"^^xsd:string) +SubClassOf(obo:MONDO_0014300 obo:MONDO_0100545) SubClassOf(obo:MONDO_0014300 obo:MONDO_0700223) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) obo:MONDO_0014300 ) SubClassOf(obo:MONDO_0014300 ) @@ -156934,7 +156991,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:397927"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0014314 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0014314 "sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "MONDO:0017085-obsoleted"^^xsd:string) Annotation(oboInOwl:source "https://github.com/monarch-initiative/mondo/pull/2571/"^^xsd:string) obo:MONDO_0014314 obo:MONDO_0018075) -SubClassOf(obo:MONDO_0014314 ) +SubClassOf(obo:MONDO_0014314 obo:MONDO_0100545) # Class: obo:MONDO_0014317 (pancytopenia-developmental delay syndrome) @@ -156986,7 +157043,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:401777"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0014320 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0014320 "Bosch-Boonstra-Schaaf optic atrophy syndrome"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "Orphanet:401777"^^xsd:string) Annotation(oboInOwl:source "https://clinicalgenome.org/affiliation/40060/"^^xsd:string) obo:MONDO_0014320 obo:MONDO_0000508) -SubClassOf(obo:MONDO_0014320 ) +SubClassOf(obo:MONDO_0014320 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "MONDO:0015983"^^xsd:string) obo:MONDO_0014320 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021136)) # Class: obo:MONDO_0014326 (nemaline myopathy 9) @@ -158210,7 +158267,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:370022"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0014419 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0014419 "ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome"^^xsd:string) SubClassOf(obo:MONDO_0014419 obo:MONDO_0020022) -SubClassOf(obo:MONDO_0014419 ) +SubClassOf(obo:MONDO_0014419 obo:MONDO_0100545) SubClassOf(obo:MONDO_0014419 ObjectSomeValuesFrom(mondo:disease_has_major_feature obo:MONDO_0020022)) # Class: obo:MONDO_0014420 (short stature due to primary acid-labile subunit deficiency) @@ -159629,6 +159686,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:88635"^^xsd:string) obo AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0014546 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0014546 "myopathy due to calsequestrin and SERCA1 protein overload"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "Orphanet:88635"^^xsd:string) obo:MONDO_0014546 obo:MONDO_0016199) +SubClassOf(obo:MONDO_0014546 obo:MONDO_0100545) SubClassOf(obo:MONDO_0014546 obo:MONDO_0700223) # Class: obo:MONDO_0014548 (long QT syndrome 14) @@ -159703,6 +159761,7 @@ SubClassOf(obo:MONDO_0014552 obo:MONDO_0002320) SubClassOf(Annotation(oboInOwl:source "Orphanet:439897"^^xsd:string) obo:MONDO_0014552 obo:MONDO_0015168) SubClassOf(Annotation(oboInOwl:source "DC-OMIM:616258"^^xsd:string) Annotation(oboInOwl:source "OMIM:616258"^^xsd:string) obo:MONDO_0014552 obo:MONDO_0018921) SubClassOf(obo:MONDO_0014552 obo:MONDO_0020022) +SubClassOf(obo:MONDO_0014552 obo:MONDO_0100545) SubClassOf(obo:MONDO_0014552 ObjectSomeValuesFrom(mondo:disease_has_major_feature obo:MONDO_0020022)) # Class: obo:MONDO_0014553 (Tenorio syndrome) @@ -159787,7 +159846,7 @@ SubClassOf(obo:MONDO_0014558 obo:MONDO_0002320) SubClassOf(Annotation(oboInOwl:source "Orphanet:457193"^^xsd:string) obo:MONDO_0014558 obo:MONDO_0015159) SubClassOf(Annotation(oboInOwl:source "Orphanet:457193"^^xsd:string) obo:MONDO_0014558 obo:MONDO_0015338) SubClassOf(obo:MONDO_0014558 obo:MONDO_0100172) -SubClassOf(Annotation(oboInOwl:source "MONDO:0015506-obsoleted"^^xsd:string) obo:MONDO_0014558 ) +SubClassOf(obo:MONDO_0014558 obo:MONDO_0100547) # Class: obo:MONDO_0014559 (progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome) @@ -159816,6 +159875,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:457212"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0014559 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0014559 "progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "PMID:33340416"^^xsd:string) obo:MONDO_0014559 obo:MONDO_0019216) +SubClassOf(obo:MONDO_0014559 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "Orphanet:457212"^^xsd:string) obo:MONDO_0014559 ) SubClassOf(Annotation(oboInOwl:source "MONDO:0015983"^^xsd:string) Annotation(oboInOwl:source "MONDO:0017644"^^xsd:string) obo:MONDO_0014559 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021136)) @@ -159886,9 +159946,11 @@ SubClassOf(Annotation(oboInOwl:source "DC-OMIM:616276"^^xsd:string) Annotation(o # Class: obo:MONDO_0014563 (mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency) AnnotationAssertion(mondo:exactMatch obo:MONDO_0014563 ) +AnnotationAssertion(mondo:exactMatch obo:MONDO_0014563 obo:Orphanet_653880) AnnotationAssertion(mondo:exactMatch obo:MONDO_0014563 ) AnnotationAssertion(Annotation(oboInOwl:source "OMIM:616277"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0014563 "GARD:13019"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0014563 "OMIM:616277"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0014563 "Orphanet:653880"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) Annotation(oboInOwl:source "MONDO:ncbi_mim2gene_medline"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0014563 "UMLS:C4225391"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:Lexical"^^xsd:string) Annotation(oboInOwl:hasDbXref "OMIM:616277"^^xsd:string) Annotation(oboInOwl:hasSynonymType mondo:CLINGEN_LABEL) oboInOwl:hasExactSynonym obo:MONDO_0014563 "mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:Lexical"^^xsd:string) Annotation(oboInOwl:hasDbXref "OMIM:616277"^^xsd:string) Annotation(oboInOwl:hasSynonymType mondo:ABBREVIATION) oboInOwl:hasRelatedSynonym obo:MONDO_0014563 "ECHS1D"^^xsd:string) @@ -161037,6 +161099,7 @@ AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0014700 "https://github.com/monarc AnnotationAssertion(mondo:exactMatch obo:MONDO_0014700 ) AnnotationAssertion(mondo:exactMatch obo:MONDO_0014700 ) AnnotationAssertion(mondo:exactMatch obo:MONDO_0014700 ) +AnnotationAssertion(mondo:exactMatch obo:MONDO_0014700 obo:Orphanet_2729) AnnotationAssertion(mondo:exactMatch obo:MONDO_0014700 obo:Orphanet_453504) AnnotationAssertion(mondo:exactMatch obo:MONDO_0014700 ) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "Orphanet:2729"^^xsd:string) Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) mondo:excluded_subClassOf obo:MONDO_0014700 obo:MONDO_0000508) @@ -161044,6 +161107,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:453504"^^xsd:string) ob AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0014700 "MESH:C565736"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentObsolete"^^xsd:string) Annotation(oboInOwl:source "Orphanet:2729"^^xsd:string) Annotation(oboInOwl:source "Orphanet:2729/e"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0014700 "OMIM:604916"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) Annotation(oboInOwl:source "Orphanet:453504"^^xsd:string) Annotation(oboInOwl:source "Orphanet:453504/e"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0014700 "OMIM:616580"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) Annotation(oboInOwl:source "OMIM:604916"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0014700 "Orphanet:2729"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0014700 "Orphanet:453504"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0014700 "SCTID:722065002"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:MEDGEN"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) Annotation(oboInOwl:source "MONDO:ncbi_mim2gene_medline"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0014700 "UMLS:C4225274"^^xsd:string) @@ -161773,6 +161837,7 @@ SubClassOf(Annotation(oboInOwl:source "Orphanet:468699"^^xsd:string) obo:MONDO_0 SubClassOf(obo:MONDO_0014746 obo:MONDO_0015327) SubClassOf(Annotation(oboInOwl:source "Orphanet:468699"^^xsd:string) obo:MONDO_0014746 obo:MONDO_0017740) SubClassOf(obo:MONDO_0014746 obo:MONDO_0020022) +SubClassOf(obo:MONDO_0014746 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "DC-OMIM:616721"^^xsd:string) Annotation(oboInOwl:source "OMIM:616721"^^xsd:string) obo:MONDO_0014746 ) SubClassOf(obo:MONDO_0014746 ObjectSomeValuesFrom(mondo:disease_has_major_feature obo:MONDO_0020022)) @@ -162128,8 +162193,8 @@ AnnotationAssertion(rdfs:label obo:MONDO_0014773 "cardiac anomalies - developmen SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "Orphanet:369891"^^xsd:string) Annotation(oboInOwl:source "https://clinicalgenome.org/affiliation/40060/"^^xsd:string) obo:MONDO_0014773 obo:MONDO_0000508) SubClassOf(obo:MONDO_0014773 obo:MONDO_0002320) SubClassOf(Annotation(oboInOwl:source "Orphanet:369891"^^xsd:string) obo:MONDO_0014773 obo:MONDO_0015159) -SubClassOf(obo:MONDO_0014773 ) -SubClassOf(Annotation(oboInOwl:source "MONDO:0015506-obsoleted"^^xsd:string) obo:MONDO_0014773 ) +SubClassOf(obo:MONDO_0014773 obo:MONDO_0100545) +SubClassOf(obo:MONDO_0014773 obo:MONDO_0100547) # Class: obo:MONDO_0014782 (autosomal recessive limb-girdle muscular dystrophy type 2X) @@ -162181,7 +162246,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:467176"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0014784 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0014784 "severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "Orphanet:467176"^^xsd:string) Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) obo:MONDO_0014784 obo:MONDO_0019952) -SubClassOf(Annotation(oboInOwl:source "MONDO:0015506-obsoleted"^^xsd:string) obo:MONDO_0014784 ) +SubClassOf(obo:MONDO_0014784 obo:MONDO_0100547) # Class: obo:MONDO_0014787 (severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome) @@ -162208,7 +162273,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0014787 "severe intellectual disability SubClassOf(obo:MONDO_0014787 obo:MONDO_0002320) SubClassOf(Annotation(oboInOwl:source "Orphanet:466688"^^xsd:string) obo:MONDO_0014787 obo:MONDO_0015159) SubClassOf(obo:MONDO_0014787 obo:MONDO_0020022) -SubClassOf(obo:MONDO_0014787 ) +SubClassOf(obo:MONDO_0014787 obo:MONDO_0100545) SubClassOf(obo:MONDO_0014787 ObjectSomeValuesFrom(mondo:disease_has_major_feature obo:MONDO_0020022)) # Class: obo:MONDO_0014788 (autosomal recessive limb-girdle muscular dystrophy type 2W) @@ -162774,6 +162839,7 @@ SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation( SubClassOf(obo:MONDO_0014832 obo:MONDO_0002320) SubClassOf(obo:MONDO_0014832 obo:MONDO_0015905) SubClassOf(Annotation(oboInOwl:source "Orphanet:488635"^^xsd:string) obo:MONDO_0014832 obo:MONDO_0017748) +SubClassOf(obo:MONDO_0014832 obo:MONDO_0100545) # Class: obo:MONDO_0014834 (obsolete dyskinesia, limb and orofacial, infantile-onset) @@ -162937,7 +163003,7 @@ SubClassOf(Annotation(oboInOwl:source "DC-OMIM:616968"^^xsd:string) Annotation(o # Class: obo:MONDO_0014855 (intellectual disability, autosomal dominant 42) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:patterns/disease_series_by_gene"^^xsd:string) obo:IAO_0000115 obo:MONDO_0014855 "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GNB1 gene."^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:patterns/disease_series_by_gene"^^xsd:string) Annotation(oboInOwl:hasDbXref "https://clinicalgenome.org/affiliation/40006/"^^xsd:string) obo:IAO_0000115 obo:MONDO_0014855 "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a heterozygous mutation in the GNB1 gene. It is characterized by global developmental delay, intellectual disability, hypotonia, structural brain abnormalities, and seizures. Other less common findings include dystonia, visual impairment, behavior problems, growth delay, craniofacial defects, and genitourinary abnormalities in males."^^xsd:string) AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0014855 "https://github.com/monarch-initiative/mondo/issues/4521"^^xsd:anyURI) AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0014855 "https://github.com/monarch-initiative/mondo/issues/6600"^^xsd:anyURI) AnnotationAssertion(mondo:exactMatch obo:MONDO_0014855 ) @@ -162966,7 +163032,6 @@ AnnotationAssertion(oboInOwl:id obo:MONDO_0014855 "MONDO:0014855"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "GARD:18501"^^xsd:string) oboInOwl:inSubset obo:MONDO_0014855 mondo:gard_rare) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:NORD"^^xsd:string) oboInOwl:inSubset obo:MONDO_0014855 mondo:nord_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0014855 mondo:rare) -AnnotationAssertion(rdfs:comment obo:MONDO_0014855 "Editor note: check status as syndromic"^^xsd:string) AnnotationAssertion(rdfs:label obo:MONDO_0014855 "intellectual disability, autosomal dominant 42"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "DC-OMIM:616973"^^xsd:string) Annotation(oboInOwl:source "DOID:0070072"^^xsd:string) Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "OMIM:616973"^^xsd:string) obo:MONDO_0014855 obo:MONDO_0015802) @@ -163156,7 +163221,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "GARD:18489"^^xsd:string) oboInOw AnnotationAssertion(Annotation(oboInOwl:source "MONDO:NORD"^^xsd:string) oboInOwl:inSubset obo:MONDO_0014878 mondo:nord_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0014878 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0014878 "patent ductus arteriosus 2"^^xsd:string) -SubClassOf(obo:MONDO_0014878 ) +SubClassOf(obo:MONDO_0014878 obo:MONDO_0100547) SubClassOf(obo:MONDO_0014878 ) SubClassOf(obo:MONDO_0014878 ) @@ -163185,7 +163250,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0014881 "transketolase deficiency"^^xsd SubClassOf(Annotation(oboInOwl:source "Orphanet:488618"^^xsd:string) obo:MONDO_0014881 obo:MONDO_0015159) SubClassOf(obo:MONDO_0014881 obo:MONDO_0015327) SubClassOf(Annotation(oboInOwl:source "Orphanet:488618"^^xsd:string) Annotation(oboInOwl:source "PMID:33340416"^^xsd:string) obo:MONDO_0014881 obo:MONDO_0019231) -SubClassOf(Annotation(oboInOwl:source "MONDO:0015506-obsoleted"^^xsd:string) obo:MONDO_0014881 ) +SubClassOf(obo:MONDO_0014881 obo:MONDO_0100547) # Class: obo:MONDO_0014882 (hereditary spastic paraplegia 77) @@ -163877,12 +163942,15 @@ SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation( SubClassOf(obo:MONDO_0014944 obo:MONDO_0002320) SubClassOf(Annotation(oboInOwl:source "Orphanet:464288"^^xsd:string) obo:MONDO_0014944 obo:MONDO_0015159) SubClassOf(Annotation(oboInOwl:source "Orphanet:464288"^^xsd:string) obo:MONDO_0014944 obo:MONDO_0019695) +SubClassOf(obo:MONDO_0014944 obo:MONDO_0100545) # Class: obo:MONDO_0014946 (Sifrim-Hitz-Weiss syndrome) AnnotationAssertion(mondo:exactMatch obo:MONDO_0014946 ) +AnnotationAssertion(mondo:exactMatch obo:MONDO_0014946 obo:Orphanet_653712) AnnotationAssertion(mondo:exactMatch obo:MONDO_0014946 ) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0014946 "OMIM:617159"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0014946 "Orphanet:653712"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) Annotation(oboInOwl:source "MONDO:ncbi_mim2gene_medline"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0014946 "UMLS:C4310688"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:617159"^^xsd:string) Annotation(oboInOwl:hasSynonymType mondo:ABBREVIATION) oboInOwl:hasExactSynonym obo:MONDO_0014946 "SIHIWES"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:617159"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0014946 "Sifrim-Hitz-Weiss syndrome"^^xsd:string) @@ -167723,7 +167791,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0015263 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0015263 "Brugada syndrome"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "DOID:0050451"^^xsd:string) Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "MONDO:indirect"^^xsd:string) obo:MONDO_0015263 obo:MONDO_0000992) SubClassOf(Annotation(oboInOwl:source "NCIT:C142891"^^xsd:string) obo:MONDO_0015263 obo:MONDO_0002254) -SubClassOf(obo:MONDO_0015263 ) +SubClassOf(obo:MONDO_0015263 obo:MONDO_0100547) # Class: obo:MONDO_0015267 (Feingold syndrome) @@ -172030,8 +172098,8 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:163927"^^xsd:string) ob AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:163927"^^xsd:string) oboInOwl:inSubset obo:MONDO_0015597 mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0015597 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0015597 "pustulosis palmaris et plantaris"^^xsd:string) -SubClassOf(Annotation(oboInOwl:source "DOID:4398"^^xsd:string) Annotation(oboInOwl:source "NCIT:C34888"^^xsd:string) obo:MONDO_0015597 obo:MONDO_0002406) SubClassOf(Annotation(oboInOwl:source "MONDO:0019274-obsoleted"^^xsd:string) obo:MONDO_0015597 obo:MONDO_0019268) +SubClassOf(Annotation(oboInOwl:source "ICD10CM:L40.3"^^xsd:string) Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) obo:MONDO_0015597 ) # Class: obo:MONDO_0015598 (obsolete acrodermatitis continua suppurativa of Hallopeau) @@ -172210,7 +172278,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:164736"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0015609 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0015609 "advanced sleep phase syndrome"^^xsd:string) SubClassOf(obo:MONDO_0015609 obo:MONDO_0024361) -SubClassOf(obo:MONDO_0015609 ) +SubClassOf(obo:MONDO_0015609 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "MONDO:0019045"^^xsd:string) obo:MONDO_0015609 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021136)) # Class: obo:MONDO_0015611 (neutral lipid storage disease) @@ -172749,9 +172817,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:166472"^^xsd:string) ob AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:166472"^^xsd:string) oboInOwl:inSubset obo:MONDO_0015653 mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0015653 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0015653 "monogenic epilepsy"^^xsd:string) -EquivalentClasses(obo:MONDO_0015653 ObjectIntersectionOf( ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021152))) SubClassOf(Annotation(oboInOwl:source "Orphanet:166472"^^xsd:string) obo:MONDO_0015653 ) -SubClassOf(obo:MONDO_0015653 ) SubClassOf(Annotation(oboInOwl:source "MONDO:0015955"^^xsd:string) obo:MONDO_0015653 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021136)) # Class: obo:MONDO_0015660 (sporadic fetal brain disruption sequence) @@ -173809,6 +173875,7 @@ SubClassOf(obo:MONDO_0015735 obo:MONDO_0002320) SubClassOf(Annotation(oboInOwl:source "Orphanet:171430"^^xsd:string) obo:MONDO_0015735 obo:MONDO_0016193) SubClassOf(Annotation(oboInOwl:source "Orphanet:171430"^^xsd:string) obo:MONDO_0015735 obo:MONDO_0016194) SubClassOf(Annotation(oboInOwl:source "Orphanet:171430"^^xsd:string) obo:MONDO_0015735 obo:MONDO_0018958) +SubClassOf(obo:MONDO_0015735 obo:MONDO_0100545) # Class: obo:MONDO_0015736 (intermediate nemaline myopathy) @@ -173851,6 +173918,7 @@ SubClassOf(Annotation(oboInOwl:source "Orphanet:171436"^^xsd:string) obo:MONDO_0 SubClassOf(Annotation(oboInOwl:source "Orphanet:171436"^^xsd:string) obo:MONDO_0015737 obo:MONDO_0016194) SubClassOf(Annotation(oboInOwl:source "Orphanet:171436"^^xsd:string) obo:MONDO_0015737 obo:MONDO_0017303) SubClassOf(Annotation(oboInOwl:source "Orphanet:171436"^^xsd:string) obo:MONDO_0015737 obo:MONDO_0018958) +SubClassOf(obo:MONDO_0015737 obo:MONDO_0100545) # Class: obo:MONDO_0015738 (childhood-onset nemaline myopathy) @@ -173872,6 +173940,7 @@ SubClassOf(Annotation(oboInOwl:source "Orphanet:171439"^^xsd:string) obo:MONDO_0 SubClassOf(Annotation(oboInOwl:source "Orphanet:171439"^^xsd:string) obo:MONDO_0015738 obo:MONDO_0016194) SubClassOf(Annotation(oboInOwl:source "Orphanet:171439"^^xsd:string) obo:MONDO_0015738 obo:MONDO_0017303) SubClassOf(Annotation(oboInOwl:source "Orphanet:171439"^^xsd:string) obo:MONDO_0015738 obo:MONDO_0018958) +SubClassOf(obo:MONDO_0015738 obo:MONDO_0100545) # Class: obo:MONDO_0015739 (adult-onset nemaline myopathy) @@ -173893,6 +173962,7 @@ SubClassOf(obo:MONDO_0015739 obo:MONDO_0002320) SubClassOf(Annotation(oboInOwl:source "Orphanet:171442"^^xsd:string) obo:MONDO_0015739 obo:MONDO_0016193) SubClassOf(Annotation(oboInOwl:source "Orphanet:171442"^^xsd:string) obo:MONDO_0015739 obo:MONDO_0016194) SubClassOf(Annotation(oboInOwl:source "Orphanet:171442"^^xsd:string) obo:MONDO_0015739 obo:MONDO_0018958) +SubClassOf(obo:MONDO_0015739 obo:MONDO_0100545) # Class: obo:MONDO_0015740 (trisomy 18p) @@ -176578,7 +176648,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0016001 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0016001 "2-hydroxyglutaric aciduria"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "GARD:0010761"^^xsd:string) rdfs:seeAlso obo:MONDO_0016001 "https://rarediseases.info.nih.gov/diseases/10761/2-hydroxyglutaric-aciduria"^^xsd:anyURI) SubClassOf(Annotation(oboInOwl:source "DOID:0050573/inferred"^^xsd:string) Annotation(oboInOwl:source "MESH:C535306/inferred"^^xsd:string) Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "NCIT:C128187"^^xsd:string) Annotation(oboInOwl:source "Orphanet:19/inferred"^^xsd:string) obo:MONDO_0016001 obo:MONDO_0019052) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-9310-0163"^^xsd:string) obo:MONDO_0016001 ) +SubClassOf(obo:MONDO_0016001 obo:MONDO_0100545) # Class: obo:MONDO_0016002 (Ehlers-Danlos syndrome, kyphoscoliotic type 1) @@ -176781,9 +176851,9 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:1935"^^xsd:string) oboI AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0016022 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0016022 "early myoclonic encephalopathy"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "DOID:308"^^xsd:string) obo:MONDO_0016022 obo:MONDO_0000412) -SubClassOf(obo:MONDO_0016022 obo:MONDO_0015653) SubClassOf(Annotation(oboInOwl:source "Orphanet:1935"^^xsd:string) obo:MONDO_0016022 obo:MONDO_0016801) SubClassOf(Annotation(oboInOwl:source "Orphanet:1935"^^xsd:string) Annotation(oboInOwl:source "https://orcid.org/0000-0001-8486-0558"^^xsd:string) obo:MONDO_0016022 obo:MONDO_0100022) +SubClassOf(obo:MONDO_0016022 obo:MONDO_0100545) # Class: obo:MONDO_0016024 (shoulder and thorax deformity-congenital heart disease syndrome) @@ -176828,9 +176898,9 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0016025 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0016025 "myoclonic-astatic epilepsy"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "GARD:0002169"^^xsd:string) rdfs:seeAlso obo:MONDO_0016025 "https://rarediseases.info.nih.gov/diseases/2169/myoclonic-astatic-epilepsy"^^xsd:anyURI) SubClassOf(Annotation(oboInOwl:source "MONDO:cjm"^^xsd:string) obo:MONDO_0016025 obo:MONDO_0002254) -SubClassOf(obo:MONDO_0016025 obo:MONDO_0015653) SubClassOf(Annotation(oboInOwl:source "PMID:33340416"^^xsd:string) obo:MONDO_0016025 obo:MONDO_0019216) SubClassOf(Annotation(oboInOwl:source "Orphanet:1942"^^xsd:string) Annotation(oboInOwl:source "https://orcid.org/0000-0001-8486-0558"^^xsd:string) obo:MONDO_0016025 obo:MONDO_0020072) +SubClassOf(obo:MONDO_0016025 obo:MONDO_0100545) # Class: obo:MONDO_0016027 (benign neonatal seizures) @@ -176864,8 +176934,8 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:1949"^^xsd:string) oboI AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0016027 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0016027 "benign neonatal seizures"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "DOID:14264"^^xsd:string) obo:MONDO_0016027 obo:MONDO_0000412) -SubClassOf(obo:MONDO_0016027 obo:MONDO_0015653) SubClassOf(Annotation(oboInOwl:source "Orphanet:1949"^^xsd:string) obo:MONDO_0016027 obo:MONDO_0020070) +SubClassOf(obo:MONDO_0016027 obo:MONDO_0100545) # Class: obo:MONDO_0016028 (erythromelalgia) @@ -178351,7 +178421,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:207060"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0016141 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0016141 "qualitative or quantitative defects of alpha-sarcoglycan"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "Orphanet:207060"^^xsd:string) obo:MONDO_0016141 obo:MONDO_0016140) -SubClassOf(obo:MONDO_0016141 ) +SubClassOf(obo:MONDO_0016141 obo:MONDO_0100545) # Class: obo:MONDO_0016142 (qualitative or quantitative defects of beta-sarcoglycan) @@ -178373,7 +178443,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:207063"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0016142 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0016142 "qualitative or quantitative defects of beta-sarcoglycan"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "Orphanet:207063"^^xsd:string) obo:MONDO_0016142 obo:MONDO_0016140) -SubClassOf(obo:MONDO_0016142 ) +SubClassOf(obo:MONDO_0016142 obo:MONDO_0100545) # Class: obo:MONDO_0016143 (qualitative or quantitative defects of gamma-sarcoglycan) @@ -178390,7 +178460,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:207067"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0016143 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0016143 "qualitative or quantitative defects of gamma-sarcoglycan"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "Orphanet:207067"^^xsd:string) obo:MONDO_0016143 obo:MONDO_0016140) -SubClassOf(obo:MONDO_0016143 ) +SubClassOf(obo:MONDO_0016143 obo:MONDO_0100545) # Class: obo:MONDO_0016144 (qualitative or quantitative defects of delta-sarcoglycan) @@ -178410,7 +178480,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:207070"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0016144 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0016144 "qualitative or quantitative defects of delta-sarcoglycan"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "Orphanet:207070"^^xsd:string) obo:MONDO_0016144 obo:MONDO_0016140) -SubClassOf(obo:MONDO_0016144 ) +SubClassOf(obo:MONDO_0016144 obo:MONDO_0100545) # Class: obo:MONDO_0016145 (qualitative or quantitative defects of dysferlin) @@ -178431,7 +178501,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:207073"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0016145 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0016145 "qualitative or quantitative defects of dysferlin"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "Orphanet:207073"^^xsd:string) obo:MONDO_0016145 obo:MONDO_0016139) -SubClassOf(obo:MONDO_0016145 ) +SubClassOf(obo:MONDO_0016145 obo:MONDO_0100545) # Class: obo:MONDO_0016146 (caveolinopathy) @@ -178451,7 +178521,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0016146 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0016146 "caveolinopathy"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) obo:MONDO_0016146 obo:MONDO_0003939) SubClassOf(Annotation(oboInOwl:source "Orphanet:207078"^^xsd:string) obo:MONDO_0016146 obo:MONDO_0016139) -SubClassOf(obo:MONDO_0016146 ) +SubClassOf(obo:MONDO_0016146 obo:MONDO_0100545) # Class: obo:MONDO_0016147 (qualitative or quantitative defects of dystrophin) @@ -178512,7 +178582,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:207101"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0016151 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0016151 "qualitative or quantitative defects of perlecan"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "Orphanet:207101"^^xsd:string) obo:MONDO_0016151 obo:MONDO_0016139) -SubClassOf(obo:MONDO_0016151 ) +SubClassOf(obo:MONDO_0016151 obo:MONDO_0100545) # Class: obo:MONDO_0016152 (obsolete qualitative or quantitative defects of calpain) @@ -178541,7 +178611,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:207107"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0016153 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0016153 "qualitative or quantitative defects of TRIM32"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "Orphanet:207107"^^xsd:string) obo:MONDO_0016153 obo:MONDO_0016139) -SubClassOf(obo:MONDO_0016153 ) +SubClassOf(obo:MONDO_0016153 obo:MONDO_0100545) # Class: obo:MONDO_0016154 (obsolete qualitative or quantitative defects of myotubularin) @@ -178574,6 +178644,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0016155 "qualitative or quantitative de SubClassOf(obo:MONDO_0016155 obo:MONDO_0002320) SubClassOf(obo:MONDO_0016155 obo:MONDO_0017741) SubClassOf(Annotation(oboInOwl:source "Orphanet:207113"^^xsd:string) obo:MONDO_0016155 obo:MONDO_0018282) +SubClassOf(obo:MONDO_0016155 obo:MONDO_0100545) # Class: obo:MONDO_0016156 (qualitative or quantitative defects of FKRP) @@ -178989,7 +179060,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:209041"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0016187 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0016187 "qualitative or quantitative defects of desmin"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "Orphanet:209041"^^xsd:string) obo:MONDO_0016187 obo:MONDO_0016186) -SubClassOf(obo:MONDO_0016187 ) +SubClassOf(obo:MONDO_0016187 obo:MONDO_0100545) # Class: obo:MONDO_0016188 (qualitative or quantitative defects of alphaB-cristallin) @@ -179066,7 +179137,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:209056"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0016192 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0016192 "qualitative or quantitative defects of telethonin"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "Orphanet:209056"^^xsd:string) obo:MONDO_0016192 obo:MONDO_0016139) -SubClassOf(obo:MONDO_0016192 ) +SubClassOf(obo:MONDO_0016192 obo:MONDO_0100545) # Class: obo:MONDO_0016193 (qualitative or quantitative defects of alpha-actin) @@ -179112,7 +179183,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:209185"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0016195 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0016195 "qualitative or quantitative defects of beta-myosin heavy chain (MYH7)"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "Orphanet:209185"^^xsd:string) obo:MONDO_0016195 obo:MONDO_0016139) -SubClassOf(obo:MONDO_0016195 ) +SubClassOf(obo:MONDO_0016195 obo:MONDO_0100545) # Class: obo:MONDO_0016196 (obsolete qualitative or quantitative defects of emerin) @@ -179156,7 +179227,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:209196"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0016198 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0016198 "qualitative or quantitative defects of plectin"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "Orphanet:209196"^^xsd:string) obo:MONDO_0016198 obo:MONDO_0016139) -SubClassOf(obo:MONDO_0016198 ) +SubClassOf(obo:MONDO_0016198 obo:MONDO_0100545) # Class: obo:MONDO_0016199 (qualitative or quantitative defects of protein SERCA1) @@ -179343,7 +179414,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:210141"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0016215 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0016215 "spastic quadriplegic cerebral palsy"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "DOID:10970"^^xsd:string) obo:MONDO_0016215 obo:MONDO_0000396) -SubClassOf(obo:MONDO_0016215 ) +SubClassOf(obo:MONDO_0016215 obo:MONDO_0100545) # Class: obo:MONDO_0016222 (spindle cell hemangioma) @@ -180261,7 +180332,7 @@ SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation( SubClassOf(Annotation(oboInOwl:source "DOID:4621"^^xsd:string) Annotation(oboInOwl:source "MONDO:indirect"^^xsd:string) obo:MONDO_0016296 obo:MONDO_0002320) SubClassOf(Annotation(oboInOwl:source "Orphanet:2162"^^xsd:string) obo:MONDO_0016296 obo:MONDO_0015159) SubClassOf(obo:MONDO_0016296 obo:MONDO_0018762) -SubClassOf(obo:MONDO_0016296 ) +SubClassOf(obo:MONDO_0016296 obo:MONDO_0100545) # Class: obo:MONDO_0016297 (prelingual non-syndromic genetic hearing loss) @@ -180853,7 +180924,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0016349 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0016349 "congenital hydrocephalus"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "NCIT:C98876"^^xsd:string) obo:MONDO_0016349 obo:MONDO_0002320) SubClassOf(Annotation(oboInOwl:source "MONDO:Entailed"^^xsd:string) Annotation(oboInOwl:source "Orphanet:2185"^^xsd:string) Annotation(oboInOwl:source "Orphanet:2185/inferred"^^xsd:string) obo:MONDO_0016349 obo:MONDO_0021147) -SubClassOf(obo:MONDO_0016349 ) +SubClassOf(obo:MONDO_0016349 obo:MONDO_0100545) SubClassOf(obo:MONDO_0016349 ) SubClassOf(Annotation(oboInOwl:source "MONDO:0015960"^^xsd:string) obo:MONDO_0016349 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021136)) @@ -182503,7 +182574,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:231160"^^xsd:string) ob AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:231160"^^xsd:string) oboInOwl:inSubset obo:MONDO_0016483 mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0016483 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0016483 "intracranial berry aneurysm"^^xsd:string) -SubClassOf(obo:MONDO_0016483 ) +SubClassOf(obo:MONDO_0016483 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "DOID:0060228"^^xsd:string) obo:MONDO_0016483 ) # Class: obo:MONDO_0016484 (Usher syndrome type 2) @@ -183013,7 +183084,6 @@ AnnotationAssertion(rdfs:label obo:MONDO_0016525 "familial hyperaldosteronism"^^ EquivalentClasses(obo:MONDO_0016525 ObjectIntersectionOf( ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021152))) SubClassOf(Annotation(oboInOwl:source "MONDO:0016508-obsoleted"^^xsd:string) obo:MONDO_0016525 obo:MONDO_0001422) SubClassOf(obo:MONDO_0016525 ) -SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "Orphanet:371861"^^xsd:string) obo:MONDO_0016525 ) SubClassOf(Annotation(oboInOwl:source "MONDO:0015971"^^xsd:string) obo:MONDO_0016525 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021136)) # Class: obo:MONDO_0016526 (trisomy 9p) @@ -183354,7 +183424,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:238583"^^xsd:string) ob AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:238583"^^xsd:string) oboInOwl:inSubset obo:MONDO_0016543 mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0016543 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0016543 "hyperphenylalaninemia due to tetrahydrobiopterin deficiency"^^xsd:string) -SubClassOf(obo:MONDO_0016543 obo:MONDO_0019189) +SubClassOf(obo:MONDO_0016543 obo:MONDO_0019052) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) obo:MONDO_0016543 obo:MONDO_0037871) SubClassOf(obo:MONDO_0016543 ) SubClassOf(obo:MONDO_0016543 ObjectSomeValuesFrom(mondo:disease_shares_features_of obo:MONDO_0009861)) @@ -183529,7 +183599,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:238722"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0016558 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0016558 "familial congenital mirror movements"^^xsd:string) SubClassOf(obo:MONDO_0016558 obo:MONDO_0002320) -SubClassOf(obo:MONDO_0016558 ) +SubClassOf(obo:MONDO_0016558 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "DOID:0111153"^^xsd:string) Annotation(oboInOwl:source "Orphanet:238722"^^xsd:string) Annotation(oboInOwl:source "Orphanet:238722/inferred"^^xsd:string) obo:MONDO_0016558 ) SubClassOf(Annotation(oboInOwl:source "MONDO:0015957"^^xsd:string) obo:MONDO_0016558 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021136)) @@ -187242,7 +187312,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:2573"^^xsd:string) oboI AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:2573"^^xsd:string) oboInOwl:inSubset obo:MONDO_0016820 mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0016820 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0016820 "Moyamoya disease"^^xsd:string) -SubClassOf(obo:MONDO_0016820 ) +SubClassOf(obo:MONDO_0016820 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "DOID:13099"^^xsd:string) Annotation(oboInOwl:source "MESH:D009072"^^xsd:string) obo:MONDO_0016820 ) # Class: obo:MONDO_0016821 (shoulder and girdle defects-familial intellectual disability syndrome) @@ -194465,6 +194535,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0017306 "disorder of phenylalanine meta SubClassOf(obo:MONDO_0017306 obo:MONDO_0019189) SubClassOf(Annotation(oboInOwl:source "Orphanet:284814"^^xsd:string) obo:MONDO_0017306 obo:MONDO_0019235) SubClassOf(obo:MONDO_0017306 obo:MONDO_0037871) +SubClassOf(obo:MONDO_0017306 obo:MONDO_0045022) # Class: obo:MONDO_0017307 (disorder of tyrosine metabolism) @@ -194486,6 +194557,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0017307 "disorder of tyrosine metabolis SubClassOf(obo:MONDO_0017307 obo:MONDO_0019189) SubClassOf(Annotation(oboInOwl:source "Orphanet:284818"^^xsd:string) obo:MONDO_0017307 obo:MONDO_0019235) SubClassOf(obo:MONDO_0017307 obo:MONDO_0037871) +SubClassOf(obo:MONDO_0017307 obo:MONDO_0045022) # Class: obo:MONDO_0017309 (neonatal Marfan syndrome) @@ -194682,6 +194754,7 @@ SubClassOf(obo:MONDO_0017317 obo:MONDO_0000648) SubClassOf(obo:MONDO_0017317 obo:MONDO_0019755) SubClassOf(Annotation(oboInOwl:source "MONDO:cjm"^^xsd:string) obo:MONDO_0017317 obo:MONDO_0042983) SubClassOf(obo:MONDO_0017317 obo:MONDO_0100118) +SubClassOf(obo:MONDO_0017317 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "Orphanet:2874"^^xsd:string) obo:MONDO_0017317 ) SubClassOf(Annotation(oboInOwl:source "MONDO:0017414"^^xsd:string) obo:MONDO_0017317 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021136)) @@ -195232,6 +195305,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0017350 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0017350 "inborn disorder of tryptophan metabolism"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "Orphanet:289829"^^xsd:string) obo:MONDO_0017350 obo:MONDO_0019189) SubClassOf(obo:MONDO_0017350 obo:MONDO_0037871) +SubClassOf(obo:MONDO_0017350 obo:MONDO_0045022) # Class: obo:MONDO_0017351 (inborn disorder of lysine and hydroxylysine metabolism) @@ -195330,6 +195404,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0017355 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0017355 "inborn disorder of proline metabolism"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "Orphanet:289866"^^xsd:string) obo:MONDO_0017355 obo:MONDO_0019230) SubClassOf(obo:MONDO_0017355 obo:MONDO_0037871) +SubClassOf(obo:MONDO_0017355 obo:MONDO_0045022) # Class: obo:MONDO_0017356 (inborn disorder of ornithine metabolism) @@ -195354,6 +195429,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0017356 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0017356 "inborn disorder of ornithine metabolism"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "Orphanet:289869"^^xsd:string) obo:MONDO_0017356 obo:MONDO_0019230) SubClassOf(obo:MONDO_0017356 obo:MONDO_0037871) +SubClassOf(obo:MONDO_0017356 obo:MONDO_0045022) # Class: obo:MONDO_0017359 (3-methylglutaconic aciduria) @@ -199054,7 +199130,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0017615 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0017615 "benign familial infantile epilepsy"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "DOID:0060169"^^xsd:string) obo:MONDO_0017615 obo:MONDO_0000413) SubClassOf(Annotation(oboInOwl:source "Orphanet:306"^^xsd:string) obo:MONDO_0017615 obo:MONDO_0015642) -SubClassOf(obo:MONDO_0017615 obo:MONDO_0015653) +SubClassOf(obo:MONDO_0017615 obo:MONDO_0100545) # Class: obo:MONDO_0017616 (X-linked intellectual disability, Schutz type) @@ -199700,25 +199776,14 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0017677 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0017677 "focal acral hyperkeratosis"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) obo:MONDO_0017677 obo:MONDO_0017675) -# Class: obo:MONDO_0017681 (erythrokeratoderma variabilis progressiva) +# Class: obo:MONDO_0017681 (obsolete erythrokeratoderma variabilis progressiva) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:308166"^^xsd:string) obo:IAO_0000115 obo:MONDO_0017681 "A type of erythrokeratoderma characterized by the association of hyperkeratosis and erythema in persistent, although sometimes variable, circumscribed lesions. Progressive symmetric erythrokeratoderma (PSEK) and erythrokeratoderma variabilis (EKV) are probably no longer two distinctive diseases but rather the two clinical manifestations of a same disease, now known as EKVP."^^xsd:string) +AnnotationAssertion(obo:IAO_0000231 obo:MONDO_0017681 obo:MONDO_TermsMerged) AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0017681 "https://github.com/monarch-initiative/mondo/issues/6534"^^xsd:anyURI) -AnnotationAssertion(obo:IAO_0006012 obo:MONDO_0017681 "2023-11-01"^^xsd:string) -AnnotationAssertion(mondo:exactMatch obo:MONDO_0017681 obo:Orphanet_308166) -AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:308166"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0017681 "GARD:10923"^^xsd:string) -AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0017681 "Orphanet:308166"^^xsd:string) +AnnotationAssertion(obo:IAO_0100001 obo:MONDO_0017681 "MONDO:0017851"^^xsd:string) AnnotationAssertion(oboInOwl:id obo:MONDO_0017681 "MONDO:0017681"^^xsd:string) -AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0017681 mondo:disease_grouping) -AnnotationAssertion(Annotation(oboInOwl:source "GARD:10923"^^xsd:string) oboInOwl:inSubset obo:MONDO_0017681 mondo:gard_rare) -AnnotationAssertion(Annotation(oboInOwl:source "MONDO:NORD"^^xsd:string) oboInOwl:inSubset obo:MONDO_0017681 mondo:nord_rare) -AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0017681 mondo:obsoletion_candidate) -AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:308166"^^xsd:string) oboInOwl:inSubset obo:MONDO_0017681 mondo:ordo_group_of_disorders) -AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:308166"^^xsd:string) oboInOwl:inSubset obo:MONDO_0017681 mondo:orphanet_rare) -AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0017681 mondo:rare) -AnnotationAssertion(rdfs:comment obo:MONDO_0017681 "Reason: duplicate. This will be merged with MONDO:0017851 erythrokeratodermia variabilis"^^xsd:string) -AnnotationAssertion(rdfs:label obo:MONDO_0017681 "erythrokeratoderma variabilis progressiva"^^xsd:string) -SubClassOf(Annotation(oboInOwl:source "Orphanet:308166"^^xsd:string) obo:MONDO_0017681 obo:MONDO_0019270) +AnnotationAssertion(rdfs:label obo:MONDO_0017681 "obsolete erythrokeratoderma variabilis progressiva"^^xsd:string) +AnnotationAssertion(owl:deprecated obo:MONDO_0017681 "true"^^xsd:boolean) # Class: obo:MONDO_0017682 (intellectual disability-polydactyly-uncombable hair syndrome) @@ -199815,7 +199880,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:308448"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0017686 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0017686 "inborn aminoacylase deficiency"^^xsd:string) SubClassOf(obo:MONDO_0017686 obo:MONDO_0019052) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-9310-0163"^^xsd:string) obo:MONDO_0017686 ) +SubClassOf(obo:MONDO_0017686 obo:MONDO_0100545) # Class: obo:MONDO_0017687 (disorder of neutral amino acid transport) @@ -200193,9 +200258,9 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0017704 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0017704 "familial partial epilepsy"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "GARD:0002173"^^xsd:string) rdfs:seeAlso obo:MONDO_0017704 "https://rarediseases.info.nih.gov/diseases/2173/epilepsy-partial-familial"^^xsd:anyURI) EquivalentClasses(obo:MONDO_0017704 ObjectIntersectionOf( ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021152))) -SubClassOf(obo:MONDO_0017704 obo:MONDO_0015653) SubClassOf(Annotation(oboInOwl:source "Orphanet:309"^^xsd:string) obo:MONDO_0017704 obo:MONDO_0020072) SubClassOf(Annotation(oboInOwl:source "Orphanet:309"^^xsd:string) obo:MONDO_0017704 obo:MONDO_0020073) +SubClassOf(obo:MONDO_0017704 obo:MONDO_0100545) SubClassOf(obo:MONDO_0017704 ) # Class: obo:MONDO_0017705 (congenital pulmonary venous return anomaly) @@ -201280,8 +201345,11 @@ SubClassOf(Annotation(oboInOwl:source "MONDO:0015960"^^xsd:string) obo:MONDO_001 # Class: obo:MONDO_0017771 (Mayer-Rokitansky-Kuster-Hauser syndrome) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:3109"^^xsd:string) obo:IAO_0000115 obo:MONDO_0017771 "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations)."^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:3109"^^xsd:string) obo:IAO_0000115 obo:MONDO_0017771 "Spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations)."^^xsd:string) +AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0017771 "https://github.com/monarch-initiative/mondo/issues/6438"^^xsd:anyURI) AnnotationAssertion(mondo:closeMatch obo:MONDO_0017771 ) +AnnotationAssertion(mondo:exactMatch obo:MONDO_0017771 ) +AnnotationAssertion(mondo:exactMatch obo:MONDO_0017771 ) AnnotationAssertion(mondo:exactMatch obo:MONDO_0017771 obo:DOID_0112177) AnnotationAssertion(mondo:exactMatch obo:MONDO_0017771 obo:NCIT_C124853) AnnotationAssertion(mondo:exactMatch obo:MONDO_0017771 obo:Orphanet_3109) @@ -201291,9 +201359,12 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:3109"^^xsd:string) Anno AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0017771 "NCIT:C124853"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:NORD"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0017771 "NORD:1412"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0017771 "Orphanet:3109"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0017771 "SCTID:8793008"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0017771 "UMLS:C0431648"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "NCIT:C124853"^^xsd:string) Annotation(oboInOwl:hasSynonymType mondo:ABBREVIATION) oboInOwl:hasExactSynonym obo:MONDO_0017771 "MRKH"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:3109"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0017771 "MRKH syndrome"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "NCIT:C124853"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0017771 "Mullerian aplasia/dysgenesis"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "https://orcid.org/0000-0001-5493-2602"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0017771 "Rokitansky Kuster Hauser syndrome"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:3109"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0017771 "Rokitansky syndrome"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:3109"^^xsd:string) oboInOwl:hasRelatedSynonym obo:MONDO_0017771 "Mayer-Rokitansky-Küster-Hauser syndrome"^^xsd:string) AnnotationAssertion(oboInOwl:id obo:MONDO_0017771 "MONDO:0017771"^^xsd:string) @@ -202055,6 +202126,7 @@ AnnotationAssertion(rdfs:comment obo:MONDO_0017824 "Editor note: TODO check this AnnotationAssertion(rdfs:label obo:MONDO_0017824 "familial isolated pituitary adenoma"^^xsd:string) EquivalentClasses(obo:MONDO_0017824 ObjectIntersectionOf( ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021152))) SubClassOf(obo:MONDO_0017824 obo:MONDO_0023603) +SubClassOf(obo:MONDO_0017824 obo:MONDO_0100545) SubClassOf(obo:MONDO_0017824 ) # Class: obo:MONDO_0017828 (obsolete primary renal tubular acidosis) @@ -202395,6 +202467,7 @@ SubClassOf(obo:MONDO_0017850 obo:MONDO_0010831) # Class: obo:MONDO_0017851 (erythrokeratodermia variabilis) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "NCIT:C84696"^^xsd:string) Annotation(oboInOwl:hasDbXref "https://orcid.org/0000-0001-5208-3432"^^xsd:string) obo:IAO_0000115 obo:MONDO_0017851 "A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema."^^xsd:string) +AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0017851 "https://github.com/monarch-initiative/mondo/issues/6534"^^xsd:anyURI) AnnotationAssertion(mondo:closeMatch obo:MONDO_0017851 ) AnnotationAssertion(mondo:exactMatch obo:MONDO_0017851 ) AnnotationAssertion(mondo:exactMatch obo:MONDO_0017851 ) @@ -202402,12 +202475,14 @@ AnnotationAssertion(mondo:exactMatch obo:MONDO_0017851 ) AnnotationAssertion(mondo:exactMatch obo:MONDO_0017851 obo:DOID_0050467) AnnotationAssertion(mondo:exactMatch obo:MONDO_0017851 obo:NCIT_C84696) +AnnotationAssertion(mondo:exactMatch obo:MONDO_0017851 obo:Orphanet_308166) AnnotationAssertion(mondo:exactMatch obo:MONDO_0017851 obo:Orphanet_316) AnnotationAssertion(mondo:exactMatch obo:MONDO_0017851 obo:Orphanet_317) AnnotationAssertion(mondo:exactMatch obo:MONDO_0017851 ) AnnotationAssertion(Annotation(oboInOwl:source "MESH:C536154"^^xsd:string) Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) mondo:excluded_subClassOf obo:MONDO_0017851 obo:MONDO_0009490) AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:316"^^xsd:string) Annotation(oboInOwl:source "Orphanet:317"^^xsd:string) Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) mondo:excluded_subClassOf obo:MONDO_0017851 obo:MONDO_0017681) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0017851 "DOID:0050467"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:308166"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0017851 "GARD:10923"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:317"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0017851 "GARD:16528"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:316"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0017851 "GARD:18639"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0017851 "MESH:C536154"^^xsd:string) @@ -202416,39 +202491,40 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:317"^^xsd:string) Annot AnnotationAssertion(Annotation(oboInOwl:source "DOID:0050467"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0017851 "NCIT:C84696"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:NORD"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0017851 "NORD:1285"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0017851 "OMIMPS:133200"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0017851 "Orphanet:308166"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) Annotation(oboInOwl:source "OMIM:133200"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0017851 "Orphanet:316"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) Annotation(oboInOwl:source "OMIM:133200"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0017851 "Orphanet:317"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "DOID:0050467"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0017851 "SCTID:70041004"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "DOID:0050467"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) Annotation(oboInOwl:source "MONDO:ncbi_mim2gene_medline"^^xsd:string) Annotation(oboInOwl:source "NCIT:C84696"^^xsd:string) Annotation(oboInOwl:source "OMIM:133200"^^xsd:string) Annotation(oboInOwl:source "Orphanet:317"^^xsd:string) Annotation(oboInOwl:source "Orphanet:317/e"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0017851 "UMLS:C0265961"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:316"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0017851 "Darier-Gottron disease"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:317"^^xsd:string) Annotation(oboInOwl:hasSynonymType mondo:ABBREVIATION) oboInOwl:hasExactSynonym obo:MONDO_0017851 "EKV"^^xsd:string) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "DOID:0050467"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0017851 "erythrokeratodermia Figurata variabilis"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "DOID:0050467"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0017851 "erythrokeratodermia figurata variabilis"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:316"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0017851 "erythrokeratodermia progressiva symmetrica"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:133200"^^xsd:string) Annotation(oboInOwl:hasSynonymType mondo:CLINGEN_LABEL) oboInOwl:hasExactSynonym obo:MONDO_0017851 "erythrokeratodermia variabilis"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:317"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0017851 "erythrokeratodermia variabilis, Mendes da Costa type"^^xsd:string) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:316"^^xsd:string) oboInOwl:hasRelatedSynonym obo:MONDO_0017851 "Darier-Gottron disease"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:316"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0017851 "progressive symmetric erythrokeratodermia"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:316"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0017851 "progressive symmetric erythrokeratodermia, Gottron type"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:Lexical"^^xsd:string) Annotation(oboInOwl:hasDbXref "OMIM:133200"^^xsd:string) Annotation(oboInOwl:hasSynonymType mondo:ABBREVIATION) oboInOwl:hasRelatedSynonym obo:MONDO_0017851 "EKVP"^^xsd:string) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "GARD:0003096"^^xsd:string) oboInOwl:hasRelatedSynonym obo:MONDO_0017851 "Greither's disease"^^xsd:string) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:133200"^^xsd:string) oboInOwl:hasRelatedSynonym obo:MONDO_0017851 "erythrokeratodermia Figurata, congenital familial, in plaques"^^xsd:string) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "GARD:0003096"^^xsd:string) Annotation(oboInOwl:hasDbXref "MESH:C536154"^^xsd:string) oboInOwl:hasRelatedSynonym obo:MONDO_0017851 "erythrokeratodermia figurata, congenital familial, in plaques"^^xsd:string) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:316"^^xsd:string) oboInOwl:hasRelatedSynonym obo:MONDO_0017851 "erythrokeratodermia progressiva symmetrica"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "GARD:0003096"^^xsd:string) Annotation(oboInOwl:hasDbXref "MESH:C536154"^^xsd:string) Annotation(oboInOwl:hasDbXref "OMIM:133200"^^xsd:string) oboInOwl:hasRelatedSynonym obo:MONDO_0017851 "erythrokeratodermia figurata, congenital familial, in plaques"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:Lexical"^^xsd:string) Annotation(oboInOwl:hasDbXref "OMIM:133200"^^xsd:string) oboInOwl:hasRelatedSynonym obo:MONDO_0017851 "erythrokeratodermia variabilis ET progressiva"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:133200"^^xsd:string) oboInOwl:hasRelatedSynonym obo:MONDO_0017851 "erythrokeratodermia variabilis with erythema Gyratum Repens"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "GARD:0003096"^^xsd:string) Annotation(oboInOwl:hasDbXref "MESH:C536154"^^xsd:string) oboInOwl:hasRelatedSynonym obo:MONDO_0017851 "erythrokeratodermia variabilis with erythema gyratum repens"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:133200"^^xsd:string) oboInOwl:hasRelatedSynonym obo:MONDO_0017851 "erythrokeratodermia, progressive symmetric"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "GARD:0003096"^^xsd:string) oboInOwl:hasRelatedSynonym obo:MONDO_0017851 "keratoderma palmoplantaris transgrediens"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "GARD:0003096"^^xsd:string) oboInOwl:hasRelatedSynonym obo:MONDO_0017851 "keratosis extremitatum hereditaria progrediens"^^xsd:string) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:133200"^^xsd:string) oboInOwl:hasRelatedSynonym obo:MONDO_0017851 "keratosis palmoplantaris transgrediens Et progrediens"^^xsd:string) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "GARD:0003096"^^xsd:string) Annotation(oboInOwl:hasDbXref "MESH:C536154"^^xsd:string) oboInOwl:hasRelatedSynonym obo:MONDO_0017851 "keratosis palmoplantaris transgrediens et progrediens"^^xsd:string) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:316"^^xsd:string) oboInOwl:hasRelatedSynonym obo:MONDO_0017851 "progressive symmetric erythrokeratodermia"^^xsd:string) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:316"^^xsd:string) oboInOwl:hasRelatedSynonym obo:MONDO_0017851 "progressive symmetric erythrokeratodermia, Gottron type"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "GARD:0003096"^^xsd:string) Annotation(oboInOwl:hasDbXref "MESH:C536154"^^xsd:string) Annotation(oboInOwl:hasDbXref "OMIM:133200"^^xsd:string) oboInOwl:hasRelatedSynonym obo:MONDO_0017851 "keratosis palmoplantaris transgrediens et progrediens"^^xsd:string) AnnotationAssertion(oboInOwl:id obo:MONDO_0017851 "MONDO:0017851"^^xsd:string) -AnnotationAssertion(Annotation(oboInOwl:source "GARD:16528"^^xsd:string) Annotation(oboInOwl:source "GARD:18639"^^xsd:string) oboInOwl:inSubset obo:MONDO_0017851 mondo:gard_rare) +AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0017851 mondo:disease_grouping) +AnnotationAssertion(Annotation(oboInOwl:source "GARD:10923"^^xsd:string) Annotation(oboInOwl:source "GARD:16528"^^xsd:string) Annotation(oboInOwl:source "GARD:18639"^^xsd:string) oboInOwl:inSubset obo:MONDO_0017851 mondo:gard_rare) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:NORD"^^xsd:string) oboInOwl:inSubset obo:MONDO_0017851 mondo:nord_rare) AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:316"^^xsd:string) Annotation(oboInOwl:source "Orphanet:317"^^xsd:string) oboInOwl:inSubset obo:MONDO_0017851 mondo:ordo_disease) -AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:316"^^xsd:string) Annotation(oboInOwl:source "Orphanet:317"^^xsd:string) oboInOwl:inSubset obo:MONDO_0017851 mondo:orphanet_rare) +AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:308166"^^xsd:string) oboInOwl:inSubset obo:MONDO_0017851 mondo:ordo_group_of_disorders) +AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:308166"^^xsd:string) Annotation(oboInOwl:source "Orphanet:316"^^xsd:string) Annotation(oboInOwl:source "Orphanet:317"^^xsd:string) oboInOwl:inSubset obo:MONDO_0017851 mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0017851 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0017851 "erythrokeratodermia variabilis"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "GARD:0003096"^^xsd:string) rdfs:seeAlso obo:MONDO_0017851 "https://rarediseases.info.nih.gov/diseases/3096/keratoderma-palmoplantaris-transgrediens"^^xsd:anyURI) SubClassOf(Annotation(oboInOwl:source "MONDO:0020094-obsoleted"^^xsd:string) obo:MONDO_0017851 obo:MONDO_0017666) +SubClassOf(Annotation(oboInOwl:source "Orphanet:308166"^^xsd:string) obo:MONDO_0017851 obo:MONDO_0019270) # Class: obo:MONDO_0017852 (infantile spasms-broad thumbs syndrome) @@ -204952,6 +205028,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0018045 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0018045 "Hoyeraal-Hreidarsson syndrome"^^xsd:string) SubClassOf(obo:MONDO_0018045 obo:MONDO_0010584) SubClassOf(obo:MONDO_0018045 obo:MONDO_0020022) +SubClassOf(obo:MONDO_0018045 obo:MONDO_0100545) SubClassOf(obo:MONDO_0018045 ObjectSomeValuesFrom(mondo:disease_has_major_feature obo:MONDO_0020022)) # Class: obo:MONDO_0018046 (thrombocytopenia-Robin sequence syndrome) @@ -205091,8 +205168,8 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0018054 mondo:rare) AnnotationAssertion(rdfs:comment obo:MONDO_0018054 "Editor note: DO def states this as being in ATFB but this is not correct"^^xsd:string) AnnotationAssertion(rdfs:label obo:MONDO_0018054 "familial atrial fibrillation"^^xsd:string) EquivalentClasses(obo:MONDO_0018054 ObjectIntersectionOf( ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021152))) +SubClassOf(obo:MONDO_0018054 obo:MONDO_0100547) SubClassOf(Annotation(oboInOwl:source "DOID:0050650"^^xsd:string) Annotation(oboInOwl:source "MONDO:DOID"^^xsd:string) Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) obo:MONDO_0018054 ) -SubClassOf(obo:MONDO_0018054 ) # Class: obo:MONDO_0018055 (pediatric hepatocellular carcinoma) @@ -206975,6 +207052,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0018160 "hereditary retinoblastoma"^^xs EquivalentClasses(obo:MONDO_0018160 ObjectIntersectionOf(obo:MONDO_0008380 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021152))) SubClassOf(Annotation(oboInOwl:source "DOID:4648"^^xsd:string) Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "NCIT:C8495"^^xsd:string) Annotation(oboInOwl:source "Orphanet:357027"^^xsd:string) obo:MONDO_0018160 obo:MONDO_0008380) SubClassOf(Annotation(oboInOwl:source "Orphanet:357027"^^xsd:string) obo:MONDO_0018160 obo:MONDO_0015356) +SubClassOf(obo:MONDO_0018160 obo:MONDO_0100545) # Class: obo:MONDO_0018162 (neurometabolic disorder due to serine deficiency) @@ -207405,8 +207483,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:363618"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0018203 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0018203 "LMNA-related cardiocutaneous progeria syndrome"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "Orphanet:363618"^^xsd:string) obo:MONDO_0018203 obo:MONDO_0019303) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-2825-0621"^^xsd:string) obo:MONDO_0018203 ) -SubClassOf(Annotation(oboInOwl:source "Orphanet:363618"^^xsd:string) obo:MONDO_0018203 ) +SubClassOf(obo:MONDO_0018203 obo:MONDO_0100547) # Class: obo:MONDO_0018204 (20q11.2 microduplication syndrome) @@ -207631,7 +207708,8 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:36387"^^xsd:string) obo AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:36387"^^xsd:string) oboInOwl:inSubset obo:MONDO_0018214 mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0018214 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0018214 "generalized epilepsy with febrile seizures plus"^^xsd:string) -SubClassOf(obo:MONDO_0018214 obo:MONDO_0015653) +SubClassOf(obo:MONDO_0018214 obo:MONDO_0100545) +SubClassOf(Annotation(oboInOwl:source "https://www.clinicalgenome.org/affiliation/40005/"^^xsd:string) obo:MONDO_0018214 ) # Class: obo:MONDO_0018215 (paraneoplastic neurologic syndrome) @@ -208206,7 +208284,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0018257 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0018257 "familial syringomyelia"^^xsd:string) EquivalentClasses(obo:MONDO_0018257 ObjectIntersectionOf(obo:MONDO_0017987 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021152))) SubClassOf(Annotation(oboInOwl:source "Orphanet:370034"^^xsd:string) obo:MONDO_0018257 obo:MONDO_0020508) -SubClassOf(obo:MONDO_0018257 ) +SubClassOf(obo:MONDO_0018257 obo:MONDO_0100545) # Class: obo:MONDO_0018262 (obsolete fetal anticonvulsant syndrome) @@ -208727,7 +208805,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:371428"^^xsd:string) ob AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0018298 "Orphanet:371428"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0018298 "SCTID:716868003"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:MEDGEN"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0018298 "UMLS:C1850155"^^xsd:string) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:371428"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0018298 "mona spectrum"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:371428"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0018298 "MONA spectrum"^^xsd:string) AnnotationAssertion(oboInOwl:id obo:MONDO_0018298 "MONDO:0018298"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "GARD:17610"^^xsd:string) oboInOwl:inSubset obo:MONDO_0018298 mondo:gard_rare) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:NORD"^^xsd:string) oboInOwl:inSubset obo:MONDO_0018298 mondo:nord_rare) @@ -209294,7 +209372,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:397606"^^xsd:string) ob AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:397606"^^xsd:string) oboInOwl:inSubset obo:MONDO_0018339 mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0018339 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0018339 "PrP systemic amyloidosis"^^xsd:string) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-5002-8648"^^xsd:string) obo:MONDO_0018339 ) +SubClassOf(obo:MONDO_0018339 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-4142-7153"^^xsd:string) obo:MONDO_0018339 ) # Class: obo:MONDO_0018340 (obsolete hereditary isolated aplastic anemia) @@ -209371,7 +209449,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0018343 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0018343 "periodic paralysis with later-onset distal motor neuropathy"^^xsd:string) SubClassOf(obo:MONDO_0018343 obo:MONDO_0000995) SubClassOf(obo:MONDO_0018343 obo:MONDO_0016387) -SubClassOf(Annotation(oboInOwl:source "Orphanet:397750"^^xsd:string) obo:MONDO_0018343 ) +SubClassOf(obo:MONDO_0018343 obo:MONDO_0100546) # Class: obo:MONDO_0018344 (obsolete periodic paralysis with transient compartment-like syndrome) @@ -209419,6 +209497,8 @@ SubClassOf(Annotation(oboInOwl:source "MONDO:0015114"^^xsd:string) Annotation(ob # Class: obo:MONDO_0018347 (severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome) +AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0018347 "https://github.com/monarch-initiative/mondo/issues/7283"^^xsd:anyURI) +AnnotationAssertion(obo:IAO_0006012 obo:MONDO_0018347 "2024-05-01"^^xsd:string) AnnotationAssertion(mondo:exactMatch obo:MONDO_0018347 ) AnnotationAssertion(mondo:exactMatch obo:MONDO_0018347 obo:Orphanet_397933) AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:397933"^^xsd:string) Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) mondo:excluded_subClassOf obo:MONDO_0018347 obo:MONDO_0020119) @@ -209429,9 +209509,11 @@ AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:397933"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:397933"^^xsd:string) oboInOwl:hasRelatedSynonym obo:MONDO_0018347 "severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome"^^xsd:string) AnnotationAssertion(oboInOwl:id obo:MONDO_0018347 "MONDO:0018347"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "GARD:13221"^^xsd:string) oboInOwl:inSubset obo:MONDO_0018347 mondo:gard_rare) +AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0018347 mondo:obsoletion_candidate) AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:397933"^^xsd:string) oboInOwl:inSubset obo:MONDO_0018347 mondo:ordo_disease) AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:397933"^^xsd:string) oboInOwl:inSubset obo:MONDO_0018347 mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0018347 mondo:rare) +AnnotationAssertion(rdfs:comment obo:MONDO_0018347 "Reason: duplicate. This will be merged with MONDO:0010656 intellectual disability, X-linked 1"^^xsd:string) AnnotationAssertion(rdfs:label obo:MONDO_0018347 "severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) obo:MONDO_0018347 obo:MONDO_0002254) @@ -209528,6 +209610,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0018354 "Prader-Willi-like syndrome"^^x SubClassOf(obo:MONDO_0018354 obo:MONDO_0002320) SubClassOf(Annotation(oboInOwl:source "Orphanet:398073"^^xsd:string) obo:MONDO_0018354 obo:MONDO_0015160) SubClassOf(Annotation(oboInOwl:source "MONDO:0015890-obsoleted"^^xsd:string) obo:MONDO_0018354 obo:MONDO_0015770) +SubClassOf(obo:MONDO_0018354 obo:MONDO_0100545) # Class: obo:MONDO_0018355 (SIM1-related Prader-Willi-like syndrome) @@ -210722,6 +210805,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:415286"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0018477 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0018477 "bilirubin encephalopathy"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "Orphanet:415286"^^xsd:string) obo:MONDO_0018477 obo:MONDO_0017755) +SubClassOf(obo:MONDO_0018477 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "DOID:2382"^^xsd:string) Annotation(oboInOwl:source "EFO:1001002"^^xsd:string) Annotation(oboInOwl:source "MESH:D007647/inferred"^^xsd:string) obo:MONDO_0018477 ) # Class: obo:MONDO_0018479 (congenital adrenal hyperplasia) @@ -210889,7 +210973,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:423"^^xsd:string) oboIn AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:423"^^xsd:string) oboInOwl:inSubset obo:MONDO_0018493 mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0018493 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0018493 "malignant hyperthermia of anesthesia"^^xsd:string) -SubClassOf(obo:MONDO_0018493 ) +SubClassOf(obo:MONDO_0018493 obo:MONDO_0100546) SubClassOf(Annotation(oboInOwl:source "Orphanet:423"^^xsd:string) obo:MONDO_0018493 ) # Class: obo:MONDO_0018502 (hereditary gastric cancer) @@ -210949,8 +211033,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:423894"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0018507 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0018507 "microcephaly-complex motor and sensory axonal neuropathy syndrome"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-4142-7153"^^xsd:string) obo:MONDO_0018507 obo:MONDO_0002254) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-5002-8648"^^xsd:string) obo:MONDO_0018507 ) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-9310-0163"^^xsd:string) obo:MONDO_0018507 ) +SubClassOf(obo:MONDO_0018507 obo:MONDO_0100545) # Class: obo:MONDO_0018511 (epithelial tumor of the appendix) @@ -211048,9 +211131,11 @@ SubClassOf(Annotation(oboInOwl:source "MONDO:0018514"^^xsd:string) obo:MONDO_001 AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:patterns/location"^^xsd:string) obo:IAO_0000115 obo:MONDO_0018521 "A squamous cell carcinoma that involves the pancreas."^^xsd:string) AnnotationAssertion(mondo:exactMatch obo:MONDO_0018521 ) AnnotationAssertion(mondo:exactMatch obo:MONDO_0018521 obo:DOID_0080323) +AnnotationAssertion(mondo:exactMatch obo:MONDO_0018521 obo:NCIT_C173813) AnnotationAssertion(mondo:exactMatch obo:MONDO_0018521 obo:Orphanet_424039) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0018521 "DOID:0080323"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:424039"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0018521 "GARD:21776"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) Annotation(oboInOwl:source "https://orcid.org/0009-0001-6494-4831"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0018521 "NCIT:C173813"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0018521 "Orphanet:424039"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:MEDGEN"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0018521 "UMLS:C2675993"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:patterns/location"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0018521 "pancreas squamous cell carcinoma"^^xsd:string) @@ -211809,10 +211894,10 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:442835"^^xsd:string) ob AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:442835"^^xsd:string) oboInOwl:inSubset obo:MONDO_0018614 mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0018614 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0018614 "undetermined early-onset epileptic encephalopathy"^^xsd:string) -SubClassOf(obo:MONDO_0018614 obo:MONDO_0015653) SubClassOf(Annotation(oboInOwl:source "PMID:33340416"^^xsd:string) obo:MONDO_0018614 obo:MONDO_0019216) SubClassOf(Annotation(oboInOwl:source "Orphanet:442835"^^xsd:string) obo:MONDO_0018614 obo:MONDO_0020070) SubClassOf(Annotation(oboInOwl:source "Orphanet:442835"^^xsd:string) obo:MONDO_0018614 obo:MONDO_0020071) +SubClassOf(obo:MONDO_0018614 obo:MONDO_0100545) # Class: obo:MONDO_0018630 (hereditary nonpolyposis colon cancer) @@ -213245,6 +213330,7 @@ AnnotationAssertion(rdfs:comment obo:MONDO_0018829 "This term's classification w AnnotationAssertion(rdfs:label obo:MONDO_0018829 "familial schizencephaly"^^xsd:string) EquivalentClasses(obo:MONDO_0018829 ObjectIntersectionOf(obo:MONDO_0010011 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021152))) SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "Orphanet:481986"^^xsd:string) obo:MONDO_0018829 obo:MONDO_0010011) +SubClassOf(obo:MONDO_0018829 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "https://clinicalgenome.org/affiliation/40060/"^^xsd:string) obo:MONDO_0018829 obo:MONDO_0800461) # Class: obo:MONDO_0018831 (obsolete HTRA1-related cerebral small vessel disease) @@ -213347,7 +213433,7 @@ AnnotationAssertion(Annotation(oboInOwl:hasDbXref "PMID:20331703"^^xsd:string) A AnnotationAssertion(rdfs:label obo:MONDO_0018838 "lissencephaly spectrum disorders"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "DOID:0050453"^^xsd:string) Annotation(oboInOwl:source "MONDO:indirect"^^xsd:string) obo:MONDO_0018838 obo:MONDO_0002320) SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "Orphanet:48471"^^xsd:string) Annotation(oboInOwl:source "Orphanet:48471/inferred"^^xsd:string) obo:MONDO_0018838 obo:MONDO_0021147) -SubClassOf(obo:MONDO_0018838 ) +SubClassOf(obo:MONDO_0018838 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "MONDO:0015960"^^xsd:string) Annotation(oboInOwl:source "MONDO:0015983"^^xsd:string) obo:MONDO_0018838 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021136)) # Class: obo:MONDO_0018839 (acquired schizencephaly) @@ -213902,7 +213988,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0018875 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0018875 "Li-Fraumeni syndrome"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "DOID:3012"^^xsd:string) Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) obo:MONDO_0018875 obo:MONDO_0000426) SubClassOf(Annotation(oboInOwl:source "MESH:D016864"^^xsd:string) Annotation(oboInOwl:source "NCIT:C3476"^^xsd:string) Annotation(oboInOwl:source "Orphanet:524"^^xsd:string) obo:MONDO_0018875 obo:MONDO_0015356) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-9310-0163"^^xsd:string) obo:MONDO_0018875 ) +SubClassOf(obo:MONDO_0018875 obo:MONDO_0100545) # Class: obo:MONDO_0018877 (retinitis punctata albescens) @@ -214945,7 +215031,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0018940 "congenital myasthenic syndrome AnnotationAssertion(Annotation(oboInOwl:source "GARD:0011902"^^xsd:string) rdfs:seeAlso obo:MONDO_0018940 "https://rarediseases.info.nih.gov/diseases/11902/congenital-myasthenic-syndrome"^^xsd:anyURI) SubClassOf(Annotation(oboInOwl:source "NCIT:C84647"^^xsd:string) Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) obo:MONDO_0018940 obo:MONDO_0002254) SubClassOf(Annotation(oboInOwl:source "DOID:3635"^^xsd:string) Annotation(oboInOwl:source "MESH:D020294"^^xsd:string) Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "Orphanet:590"^^xsd:string) Annotation(oboInOwl:source "Orphanet:590/inferred"^^xsd:string) obo:MONDO_0018940 obo:MONDO_0020124) -SubClassOf(obo:MONDO_0018940 ) +SubClassOf(obo:MONDO_0018940 obo:MONDO_0100546) # Class: obo:MONDO_0018943 (myofibrillar myopathy) @@ -215125,7 +215211,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:598"^^xsd:string) oboIn AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0018948 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0018948 "multiminicore myopathy"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "Orphanet:598"^^xsd:string) obo:MONDO_0018948 obo:MONDO_0016197) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-5002-8648"^^xsd:string) obo:MONDO_0018948 ) +SubClassOf(obo:MONDO_0018948 obo:MONDO_0100545) # Class: obo:MONDO_0018949 (distal myopathy) @@ -215245,6 +215331,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0018953 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0018953 "parietal foramina"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "DOID:0060285"^^xsd:string) Annotation(oboInOwl:source "MESH:C566826/inferred"^^xsd:string) obo:MONDO_0018953 obo:MONDO_0018075) SubClassOf(Annotation(oboInOwl:source "MONDO:0019709-obsoleted"^^xsd:string) Annotation(oboInOwl:source "https://github.com/monarch-initiative/mondo/pull/2571/"^^xsd:string) obo:MONDO_0018953 obo:MONDO_0018230) +SubClassOf(obo:MONDO_0018953 obo:MONDO_0100545) # Class: obo:MONDO_0018954 (Loeys-Dietz syndrome) @@ -216919,9 +217006,9 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:68373"^^xsd:string) obo AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:68373"^^xsd:string) oboInOwl:inSubset obo:MONDO_0019053 mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0019053 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0019053 "peroxisomal disease"^^xsd:string) -SubClassOf(obo:MONDO_0019053 obo:MONDO_0015653) SubClassOf(Annotation(oboInOwl:source "DOID:906"^^xsd:string) Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "NCIT:C85005"^^xsd:string) Annotation(oboInOwl:source "Orphanet:68373"^^xsd:string) obo:MONDO_0019053 obo:MONDO_0019052) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-8486-0558"^^xsd:string) obo:MONDO_0019053 obo:MONDO_0100033) +SubClassOf(obo:MONDO_0019053 obo:MONDO_0100545) # Class: obo:MONDO_0019054 (congenital limb malformation) @@ -216977,6 +217064,7 @@ AnnotationAssertion(owl:deprecated obo:MONDO_0019063 "true"^^xsd:boolean) # Class: obo:MONDO_0019064 (hereditary spastic paraplegia) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:685"^^xsd:string) obo:IAO_0000115 obo:MONDO_0019064 "Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs."^^xsd:string) +AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0019064 "https://github.com/monarch-initiative/mondo/issues/5952"^^xsd:anyURI) AnnotationAssertion(mondo:closeMatch obo:MONDO_0019064 ) AnnotationAssertion(mondo:exactMatch obo:MONDO_0019064 ) AnnotationAssertion(mondo:exactMatch obo:MONDO_0019064 ) @@ -217016,6 +217104,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0019064 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0019064 "hereditary spastic paraplegia"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "GARD:0006637"^^xsd:string) rdfs:seeAlso obo:MONDO_0019064 "https://rarediseases.info.nih.gov/diseases/6637/hereditary-spastic-paraplegia"^^xsd:anyURI) SubClassOf(Annotation(oboInOwl:source "Orphanet:685"^^xsd:string) obo:MONDO_0019064 obo:MONDO_0024237) +SubClassOf(Annotation(oboInOwl:source "PMID:27575431"^^xsd:string) obo:MONDO_0019064 obo:MONDO_0100546) SubClassOf(Annotation(oboInOwl:source "DOID:2476"^^xsd:string) obo:MONDO_0019064 ) # Class: obo:MONDO_0019068 (congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization) @@ -217145,7 +217234,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "GARD:0005666"^^xsd:string) rdfs: SubClassOf(obo:MONDO_0019078 obo:MONDO_0002320) SubClassOf(Annotation(oboInOwl:source "Orphanet:7"^^xsd:string) obo:MONDO_0019078 obo:MONDO_0015159) SubClassOf(obo:MONDO_0019078 obo:MONDO_0020022) -SubClassOf(obo:MONDO_0019078 ) +SubClassOf(obo:MONDO_0019078 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "MESH:C535313-modified"^^xsd:string) obo:MONDO_0019078 ObjectSomeValuesFrom(obo:RO_0004029 )) SubClassOf(obo:MONDO_0019078 ObjectSomeValuesFrom(mondo:disease_has_major_feature obo:MONDO_0020022)) @@ -217570,7 +217659,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0019118 "inherited retinal dystrophy"^^ EquivalentClasses(obo:MONDO_0019118 ObjectIntersectionOf(obo:MONDO_0004580 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021152))) SubClassOf(obo:MONDO_0019118 obo:MONDO_0004580) SubClassOf(obo:MONDO_0019118 obo:MONDO_0024417) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-5002-8648"^^xsd:string) obo:MONDO_0019118 ) +SubClassOf(obo:MONDO_0019118 obo:MONDO_0100545) # Class: obo:MONDO_0019120 (pili bifurcati) @@ -218321,7 +218410,6 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:765"^^xsd:string) oboIn AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0019169 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0019169 "pyruvate dehydrogenase deficiency"^^xsd:string) SubClassOf(obo:MONDO_0019169 obo:MONDO_0004069) -SubClassOf(obo:MONDO_0019169 obo:MONDO_0015653) SubClassOf(Annotation(oboInOwl:source "Orphanet:765"^^xsd:string) obo:MONDO_0019169 obo:MONDO_0016789) SubClassOf(Annotation(oboInOwl:source "DOID:3649"^^xsd:string) Annotation(oboInOwl:source "EFO:0007459"^^xsd:string) obo:MONDO_0019169 obo:MONDO_0019214) SubClassOf(obo:MONDO_0019169 obo:MONDO_0020127) @@ -218403,7 +218491,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:101016"^^xsd:string) An AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0019171 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0019171 "familial long QT syndrome"^^xsd:string) SubClassOf(obo:MONDO_0019171 obo:MONDO_0002254) -SubClassOf(obo:MONDO_0019171 ) +SubClassOf(obo:MONDO_0019171 obo:MONDO_0100547) SubClassOf(obo:MONDO_0019171 ) SubClassOf(obo:MONDO_0019171 ObjectSomeValuesFrom(obo:RO_0004029 )) @@ -218951,9 +219039,9 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:79097"^^xsd:string) obo AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0019197 mondo:rare) AnnotationAssertion(rdfs:comment obo:MONDO_0019197 "Editor note: TODO request from CHEBI"^^xsd:string) AnnotationAssertion(rdfs:label obo:MONDO_0019197 "folinic acid-responsive seizures"^^xsd:string) -SubClassOf(obo:MONDO_0019197 obo:MONDO_0015653) SubClassOf(Annotation(oboInOwl:source "Orphanet:79097"^^xsd:string) obo:MONDO_0019197 obo:MONDO_0019253) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-8486-0558"^^xsd:string) obo:MONDO_0019197 obo:MONDO_0100033) +SubClassOf(obo:MONDO_0019197 obo:MONDO_0100545) # Class: obo:MONDO_0019200 (retinitis pigmentosa) @@ -219473,7 +219561,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0019228 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0019228 "inborn disorder of histidine metabolism"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "DOID:9265"^^xsd:string) Annotation(oboInOwl:source "MONDO:Entailed"^^xsd:string) Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) obo:MONDO_0019228 obo:MONDO_0004736) SubClassOf(obo:MONDO_0019228 obo:MONDO_0019189) -SubClassOf(obo:MONDO_0019228 obo:MONDO_0037871) +SubClassOf(obo:MONDO_0019228 obo:MONDO_0045022) # Class: obo:MONDO_0019229 (inborn disorder of ketolysis) @@ -219737,6 +219825,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0019239 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0019239 "inborn disorder of serine family metabolism"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "Orphanet:79194"^^xsd:string) obo:MONDO_0019239 obo:MONDO_0019189) SubClassOf(obo:MONDO_0019239 obo:MONDO_0037871) +SubClassOf(obo:MONDO_0019239 obo:MONDO_0045022) # Class: obo:MONDO_0019240 (sterol biosynthesis disorder) @@ -219810,6 +219899,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0019242 "inborn disorder of branched-ch SubClassOf(Annotation(oboInOwl:source "PMID:33340416"^^xsd:string) obo:MONDO_0019242 obo:MONDO_0004736) SubClassOf(obo:MONDO_0019242 obo:MONDO_0019189) SubClassOf(obo:MONDO_0019242 obo:MONDO_0037871) +SubClassOf(obo:MONDO_0019242 obo:MONDO_0045022) # Class: obo:MONDO_0019243 (inborn disorder of energy metabolism) @@ -221815,6 +221905,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0019375 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0019375 "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome"^^xsd:string) SubClassOf(obo:MONDO_0019375 obo:MONDO_0011348) SubClassOf(Annotation(oboInOwl:source "https://clinicalgenome.org/affiliation/40020/"^^xsd:string) Annotation(oboInOwl:source "https://github.com/monarch-initiative/mondo/issues/2547"^^xsd:string) obo:MONDO_0019375 obo:MONDO_0100283) +SubClassOf(obo:MONDO_0019375 obo:MONDO_0100545) SubClassOf(obo:MONDO_0019375 ) # Class: obo:MONDO_0019387 (macrostomia-preauricular tags-external ophthalmoplegia syndrome) @@ -222625,7 +222716,6 @@ AnnotationAssertion(Annotation(oboInOwl:hasDbXref "GARD:0005797"^^xsd:string) ob AnnotationAssertion(Annotation(oboInOwl:hasDbXref "GARD:0005797"^^xsd:string) oboInOwl:hasRelatedSynonym obo:MONDO_0019438 "amyloidosis AL"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "GARD:0005797"^^xsd:string) oboInOwl:hasRelatedSynonym obo:MONDO_0019438 "amyloidosis primary systemic"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "GARD:0005797"^^xsd:string) oboInOwl:hasRelatedSynonym obo:MONDO_0019438 "primary AL amyloidosis"^^xsd:string) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "GARD:0005797"^^xsd:string) oboInOwl:hasRelatedSynonym obo:MONDO_0019438 "primary amyloidosis (formerly)"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "GARD:0005797"^^xsd:string) oboInOwl:hasRelatedSynonym obo:MONDO_0019438 "primary systemic AL amyloidosis"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "GARD:0005797"^^xsd:string) oboInOwl:hasRelatedSynonym obo:MONDO_0019438 "primary systemic amyloidosis"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "GARD:0005797"^^xsd:string) oboInOwl:hasRelatedSynonym obo:MONDO_0019438 "systemic AL amyloidsis"^^xsd:string) @@ -222727,7 +222817,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:860"^^xsd:string) oboIn AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0019443 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0019443 "dextro-looped transposition of the great arteries"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "Orphanet:860"^^xsd:string) obo:MONDO_0019443 obo:MONDO_0000153) -SubClassOf(obo:MONDO_0019443 ) +SubClassOf(obo:MONDO_0019443 obo:MONDO_0100547) SubClassOf(Annotation(oboInOwl:source "DOID:0060770"^^xsd:string) obo:MONDO_0019443 ) # Class: obo:MONDO_0019448 (benign adult familial myoclonic epilepsy) @@ -223478,7 +223568,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:871"^^xsd:string) oboIn AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0019490 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0019490 "progressive familial heart block"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "DOID:0111073"^^xsd:string) Annotation(oboInOwl:source "MONDO:indirect"^^xsd:string) obo:MONDO_0019490 obo:MONDO_0000992) -SubClassOf(obo:MONDO_0019490 ) +SubClassOf(obo:MONDO_0019490 obo:MONDO_0100547) # Class: obo:MONDO_0019497 (nonsyndromic genetic hearing loss) @@ -223513,6 +223603,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0019497 "nonsyndromic genetic hearing l AnnotationAssertion(Annotation(oboInOwl:source "GARD:0006410"^^xsd:string) rdfs:seeAlso obo:MONDO_0019497 "https://rarediseases.info.nih.gov/diseases/6410/familial-deafness"^^xsd:anyURI) EquivalentClasses(obo:MONDO_0019497 ObjectIntersectionOf( ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021128) ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021152))) SubClassOf(obo:MONDO_0019497 obo:MONDO_0037940) +SubClassOf(obo:MONDO_0019497 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "EFO:0009076/inferred"^^xsd:string) Annotation(oboInOwl:source "MESH:C580334/inferred"^^xsd:string) Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "Orphanet:87884"^^xsd:string) obo:MONDO_0019497 ) SubClassOf(obo:MONDO_0019497 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021128)) SubClassOf(Annotation(oboInOwl:source "MONDO:0019047"^^xsd:string) obo:MONDO_0019497 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021136)) @@ -223666,6 +223757,7 @@ AnnotationAssertion(rdfs:comment obo:MONDO_0019502 "Editor note: misclassified i AnnotationAssertion(rdfs:label obo:MONDO_0019502 "autosomal recessive non-syndromic intellectual disability"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "Orphanet:88616"^^xsd:string) obo:MONDO_0019502 obo:MONDO_0000509) SubClassOf(Annotation(oboInOwl:source "PMID:33340416"^^xsd:string) obo:MONDO_0019502 obo:MONDO_0017706) +SubClassOf(obo:MONDO_0019502 obo:MONDO_0100545) SubClassOf(obo:MONDO_0019502 ) SubClassOf(Annotation(oboInOwl:source "MONDO:0015108"^^xsd:string) obo:MONDO_0019502 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021136)) @@ -229659,6 +229751,8 @@ SubClassOf(obo:MONDO_0019943 ) # Class: obo:MONDO_0019946 (ligneous conjunctivitis) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:97231"^^xsd:string) obo:IAO_0000115 obo:MONDO_0019946 "Ligneous conjunctivitis (LC) is a rare form of chronic conjunctivitis characterized by the recurrent formation of pseudomembranous lesions most commonly on the palpebral surfaces. It is most frequently reported as a clinical manifestation of severe homozygous or compound-heterozygous hypoplasminogenemia."^^xsd:string) +AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0019946 "https://github.com/monarch-initiative/mondo/issues/7224"^^xsd:anyURI) +AnnotationAssertion(obo:IAO_0006012 obo:MONDO_0019946 "2024-05-01"^^xsd:string) AnnotationAssertion(mondo:closeMatch obo:MONDO_0019946 ) AnnotationAssertion(mondo:exactMatch obo:MONDO_0019946 ) AnnotationAssertion(mondo:exactMatch obo:MONDO_0019946 ) @@ -229670,9 +229764,11 @@ AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:97231"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0019946 "conjunctivitis lignosa"^^xsd:string) AnnotationAssertion(oboInOwl:id obo:MONDO_0019946 "MONDO:0019946"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:NORD"^^xsd:string) oboInOwl:inSubset obo:MONDO_0019946 mondo:nord_rare) +AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0019946 mondo:obsoletion_candidate) AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:97231"^^xsd:string) oboInOwl:inSubset obo:MONDO_0019946 mondo:ordo_disease) AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:97231"^^xsd:string) oboInOwl:inSubset obo:MONDO_0019946 mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0019946 mondo:rare) +AnnotationAssertion(rdfs:comment obo:MONDO_0019946 "Reason: duplicate. This will be merged with MONDO:0009009 hypoplasminogenemia"^^xsd:string) AnnotationAssertion(rdfs:label obo:MONDO_0019946 "ligneous conjunctivitis"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "MONDO:cjm"^^xsd:string) obo:MONDO_0019946 obo:MONDO_0002314) SubClassOf(Annotation(oboInOwl:source "MONDO:0020198"^^xsd:string) obo:MONDO_0019946 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021136)) @@ -230833,10 +230929,10 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:98261"^^xsd:string) obo AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:98261"^^xsd:string) oboInOwl:inSubset obo:MONDO_0020074 mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0020074 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0020074 "progressive myoclonus epilepsy"^^xsd:string) -SubClassOf(obo:MONDO_0020074 obo:MONDO_0015653) SubClassOf(Annotation(oboInOwl:source "Orphanet:98261"^^xsd:string) obo:MONDO_0020074 obo:MONDO_0020072) SubClassOf(Annotation(oboInOwl:source "Orphanet:98261"^^xsd:string) obo:MONDO_0020074 obo:MONDO_0020073) SubClassOf(Annotation(oboInOwl:source "DOID:891"^^xsd:string) obo:MONDO_0020074 obo:MONDO_0100036) +SubClassOf(obo:MONDO_0020074 obo:MONDO_0100545) # Class: obo:MONDO_0020075 (obsolete hereditary non-syndromic obesity) @@ -231315,9 +231411,9 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:98473"^^xsd:string) obo AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0020121 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0020121 "muscular dystrophy"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "GARD:0007922"^^xsd:string) rdfs:seeAlso obo:MONDO_0020121 "https://rarediseases.info.nih.gov/diseases/7922/muscular-dystrophy"^^xsd:anyURI) +SubClassOf(obo:MONDO_0020121 obo:MONDO_0100546) SubClassOf(obo:MONDO_0020121 obo:MONDO_0700223) SubClassOf(Annotation(oboInOwl:source "DOID:9884"^^xsd:string) Annotation(oboInOwl:source "NCIT:C84910"^^xsd:string) obo:MONDO_0020121 ) -SubClassOf(Annotation(oboInOwl:source "ISBN-13:978-1-259-64403-0"^^xsd:string) obo:MONDO_0020121 ) # Class: obo:MONDO_0020122 (acquired idiopathic inflammatory myopathy) @@ -231409,7 +231505,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:98497"^^xsd:string) obo AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0020127 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0020127 "hereditary peripheral neuropathy"^^xsd:string) EquivalentClasses(obo:MONDO_0020127 ObjectIntersectionOf( ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021152))) -SubClassOf(obo:MONDO_0020127 ) +SubClassOf(obo:MONDO_0020127 obo:MONDO_0100546) SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "Orphanet:98497"^^xsd:string) obo:MONDO_0020127 ) SubClassOf(Annotation(oboInOwl:source "MONDO:0020126"^^xsd:string) obo:MONDO_0020127 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021136)) @@ -231515,7 +231611,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0020135 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0020135 "pontocerebellar hypoplasia"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "GARD:0010977"^^xsd:string) rdfs:seeAlso obo:MONDO_0020135 "https://rarediseases.info.nih.gov/diseases/10977/pontocerebellar-hypoplasia"^^xsd:anyURI) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-4142-7153"^^xsd:string) obo:MONDO_0020135 obo:MONDO_0020022) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-5002-8648"^^xsd:string) obo:MONDO_0020135 ) +SubClassOf(obo:MONDO_0020135 obo:MONDO_0100545) # Class: obo:MONDO_0020143 (cerebral lipidosis with dementia) @@ -231537,6 +231633,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0020143 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0020143 "cerebral lipidosis with dementia"^^xsd:string) SubClassOf(obo:MONDO_0020143 obo:MONDO_0015547) SubClassOf(obo:MONDO_0020143 obo:MONDO_0019245) +SubClassOf(obo:MONDO_0020143 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "DOID:10742/inferred"^^xsd:string) obo:MONDO_0020143 ) # Class: obo:MONDO_0020144 (obsolete cerebrovascular dementia) @@ -232585,7 +232682,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:98668"^^xsd:string) obo AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:98668"^^xsd:string) oboInOwl:inSubset obo:MONDO_0020246 mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0020246 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0020246 "inherited vitreoretinopathy"^^xsd:string) -SubClassOf(obo:MONDO_0020246 ) +SubClassOf(obo:MONDO_0020246 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-4142-7153"^^xsd:string) obo:MONDO_0020246 ) # Class: obo:MONDO_0020247 (congenital vitreoretinal dysplasia) @@ -232859,7 +232956,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:98722"^^xsd:string) obo AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0020290 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0020290 "familial atrioventricular septal defect"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "DOID:0050651"^^xsd:string) Annotation(oboInOwl:source "NCIT:C101029"^^xsd:string) obo:MONDO_0020290 obo:MONDO_0002078) -SubClassOf(obo:MONDO_0020290 ) +SubClassOf(obo:MONDO_0020290 obo:MONDO_0100547) # Class: obo:MONDO_0020292 (congenital anomaly of the great arteries) @@ -233258,7 +233355,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0020341 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0020341 "periventricular nodular heterotopia"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "DOID:0050454"^^xsd:string) Annotation(oboInOwl:source "MONDO:indirect"^^xsd:string) obo:MONDO_0020341 obo:MONDO_0002320) SubClassOf(Annotation(oboInOwl:source "Orphanet:98892"^^xsd:string) obo:MONDO_0020341 obo:MONDO_0016292) -SubClassOf(obo:MONDO_0020341 ) +SubClassOf(obo:MONDO_0020341 obo:MONDO_0100545) # Class: obo:MONDO_0020342 (obsolete congenital myopathy with excess of thin filaments) @@ -234844,6 +234941,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "GARD:0008561"^^xsd:string) rdfs: SubClassOf(obo:MONDO_0020485 obo:MONDO_0002320) SubClassOf(Annotation(oboInOwl:source "Orphanet:99741"^^xsd:string) obo:MONDO_0020485 obo:MONDO_0015160) SubClassOf(obo:MONDO_0020485 obo:MONDO_0100150) +SubClassOf(obo:MONDO_0020485 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "MESH:C537504-modified"^^xsd:string) obo:MONDO_0020485 ObjectSomeValuesFrom(mondo:disease_shares_features_of obo:MONDO_0018997)) # Class: obo:MONDO_0020488 (atypical progressive supranuclear palsy syndrome) @@ -235034,7 +235132,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0020496 "familial porencephaly"^^xsd:st AnnotationAssertion(Annotation(oboInOwl:source "GARD:0002258"^^xsd:string) rdfs:seeAlso obo:MONDO_0020496 "https://rarediseases.info.nih.gov/diseases/2258/familial-porencephaly"^^xsd:anyURI) EquivalentClasses(obo:MONDO_0020496 ObjectIntersectionOf(obo:MONDO_0017410 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021152))) SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "Orphanet:99810"^^xsd:string) obo:MONDO_0020496 obo:MONDO_0017410) -SubClassOf(obo:MONDO_0020496 ) +SubClassOf(obo:MONDO_0020496 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-3458-4839"^^xsd:string) obo:MONDO_0020496 ) # Class: obo:MONDO_0020497 (Turcot syndrome with polyposis) @@ -235404,10 +235502,12 @@ SubClassOf(Annotation(oboInOwl:source "Orphanet:99887"^^xsd:string) obo:MONDO_00 # Class: obo:MONDO_0020529 (ACTH-independent Cushing syndrome) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:99893"^^xsd:string) obo:IAO_0000115 obo:MONDO_0020529 "Adrenocorticotropic hormone (ACTH) independent Cushing syndrome is a form of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC)."^^xsd:string) +AnnotationAssertion(mondo:exactMatch obo:MONDO_0020529 obo:Orphanet_647758) AnnotationAssertion(mondo:exactMatch obo:MONDO_0020529 obo:Orphanet_99893) AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:99893"^^xsd:string) Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) mondo:excluded_subClassOf obo:MONDO_0020529 obo:MONDO_0018387) AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:99893"^^xsd:string) Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) mondo:excluded_subClassOf obo:MONDO_0020529 obo:MONDO_0018400) AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:99893"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0020529 "GARD:19700"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0020529 "Orphanet:647758"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0020529 "Orphanet:99893"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:99893"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0020529 "adrenal Cushing syndrome"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:99893"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0020529 "adrenocorticotropic hormone-independent Cushing syndrome"^^xsd:string) @@ -235936,7 +236036,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0020627 mondo:rare) AnnotationAssertion(rdfs:comment obo:MONDO_0020627 "See https://github.com/monarch-initiative/mondo/issues/271"^^xsd:string) AnnotationAssertion(rdfs:label obo:MONDO_0020627 "epileptic encephalopathy, infantile or early childhood"^^xsd:string) SubClassOf(obo:MONDO_0020627 obo:MONDO_0015650) -SubClassOf(obo:MONDO_0020627 obo:MONDO_0015653) +SubClassOf(obo:MONDO_0020627 obo:MONDO_0100545) # Class: obo:MONDO_0020628 (microcephaly, growth restriction, and increased sister chromatid exchange 2) @@ -236789,6 +236889,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0020745 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0020745 "ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome"^^xsd:string) SubClassOf(obo:MONDO_0020745 obo:MONDO_0000426) SubClassOf(obo:MONDO_0020745 obo:MONDO_0007263) +SubClassOf(obo:MONDO_0020745 obo:MONDO_0100547) # Class: obo:MONDO_0020746 (contractures, pterygia, and variable skeletal fusions syndrome 1B) @@ -236911,6 +237012,7 @@ AnnotationAssertion(rdfs:comment obo:MONDO_0020768 "Note that this encompasses b AnnotationAssertion(rdfs:label obo:MONDO_0020768 "X-linked deafness"^^xsd:string) SubClassOf(obo:MONDO_0020768 obo:MONDO_0000425) SubClassOf(obo:MONDO_0020768 obo:MONDO_0037940) +SubClassOf(obo:MONDO_0020768 obo:MONDO_0100545) SubClassOf(obo:MONDO_0020768 ) # Class: obo:MONDO_0020771 (spinocerebellar ataxia, autosomal recessive, with axonal neuropathy) @@ -237052,6 +237154,29 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0020798 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0020798 "hypoparathyroidism, familial isolated, 2"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "OMIM:618883"^^xsd:string) Annotation(oboInOwl:source "https://github.com/monarch-initiative/mondo/issues/1305"^^xsd:string) obo:MONDO_0020798 obo:MONDO_0016390) +# Class: obo:MONDO_0020800 (demyelinating disease of central nervous system) + +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "NCIT:C34526"^^xsd:string) obo:IAO_0000115 obo:MONDO_0020800 "Any condition in which there is degeneration of the myelin sheath that covers the nerves of the central nervous system."^^xsd:string) +AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0020800 "https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/44"^^xsd:anyURI) +AnnotationAssertion(mondo:exactMatch obo:MONDO_0020800 ) +AnnotationAssertion(mondo:exactMatch obo:MONDO_0020800 ) +AnnotationAssertion(mondo:exactMatch obo:MONDO_0020800 ) +AnnotationAssertion(mondo:exactMatch obo:MONDO_0020800 obo:NCIT_C34526) +AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) Annotation(oboInOwl:source "https://github.com/monarch-initiative/mondo/issues/4536"^^xsd:string) Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) Annotation(oboInOwl:source "https://orcid.org/0000-0002-4142-7153"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0020800 "ICD10CM:G35-G37"^^xsd:string) +AnnotationAssertion(oboInOwl:hasDbXref obo:MONDO_0020800 "ICD9:341.8"^^xsd:string) +AnnotationAssertion(oboInOwl:hasDbXref obo:MONDO_0020800 "ICD9:341.9"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) Annotation(oboInOwl:source "UMLS:C0011302"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0020800 "NCIT:C34526"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:source "GARD:0012052"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) Annotation(oboInOwl:source "UMLS:C0011302"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0020800 "SCTID:6118003"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:source "GARD:0012052"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0020800 "UMLS:C0011302"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "GARD:0012052"^^xsd:string) Annotation(oboInOwl:hasDbXref "UMLS:C0011302"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0020800 "demyelinating CNS disease"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "UMLS:C0011302"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0020800 "demyelinating disease central nervous system (CNS)"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "NCIT:C34526"^^xsd:string) Annotation(oboInOwl:hasDbXref "UMLS:C0011302"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0020800 "demyelinating disease of central nervous system"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "NCIT:C34526"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0020800 "demyelinating disorder of central nervous system"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "UMLS:C0011302"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0020800 "demyelinating disorders of the central nervous system"^^xsd:string) +AnnotationAssertion(oboInOwl:id obo:MONDO_0020800 "MONDO:0020800"^^xsd:string) +AnnotationAssertion(rdfs:label obo:MONDO_0020800 "demyelinating disease of central nervous system"^^xsd:string) +SubClassOf(Annotation(oboInOwl:source "NCIT:C34526"^^xsd:string) Annotation(oboInOwl:source "UMLS:C0011302"^^xsd:string) obo:MONDO_0020800 obo:MONDO_0002562) + # Class: obo:MONDO_0020803 (obsolete bundle branch block) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Wikipedia:Bundle_branch_block"^^xsd:string) obo:IAO_0000115 obo:MONDO_0020803 "OBSOLETE. A defect of the bundle branches or fascicles in the electrical conduction system of the heart."^^xsd:string) @@ -237109,7 +237234,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:521438"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0020831 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0020831 "congenital vertebral-cardiac-renal anomalies syndrome"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "Orphanet:521438"^^xsd:string) obo:MONDO_0020831 obo:MONDO_0015161) -SubClassOf(Annotation(oboInOwl:source "MONDO:0015506-obsoleted"^^xsd:string) obo:MONDO_0020831 ) +SubClassOf(obo:MONDO_0020831 obo:MONDO_0100547) SubClassOf(obo:MONDO_0020831 ) # Class: obo:MONDO_0020836 (autism, susceptiblity to) @@ -237625,6 +237750,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0021022 "hereditary hyperekplexia"^^xsd EquivalentClasses(obo:MONDO_0021022 ObjectIntersectionOf(obo:MONDO_0017658 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021152))) SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "Orphanet:3197"^^xsd:string) obo:MONDO_0021022 obo:MONDO_0017658) SubClassOf(Annotation(oboInOwl:source "Orphanet:3197"^^xsd:string) obo:MONDO_0021022 obo:MONDO_0019253) +SubClassOf(obo:MONDO_0021022 obo:MONDO_0100545) # Class: obo:MONDO_0021023 (complete androgen insensitivity syndrome) @@ -238751,7 +238877,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:619284"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0021107 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0021107 "narcolepsy"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "DOID:8986"^^xsd:string) Annotation(oboInOwl:source "MESH:D009290/inferred"^^xsd:string) Annotation(oboInOwl:source "NCIT:C84489"^^xsd:string) obo:MONDO_0021107 obo:MONDO_0003406) -SubClassOf(obo:MONDO_0021107 ) +SubClassOf(obo:MONDO_0021107 obo:MONDO_0100545) # Class: obo:MONDO_0021108 (meningitis) @@ -240171,7 +240297,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0021272 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0021272 "inherited orthostatic hypotension"^^xsd:string) EquivalentClasses(obo:MONDO_0021272 ObjectIntersectionOf(obo:MONDO_0015914 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021152))) SubClassOf(Annotation(oboInOwl:source "MONDO:cjm"^^xsd:string) obo:MONDO_0021272 obo:MONDO_0015914) -SubClassOf(obo:MONDO_0021272 ) +SubClassOf(obo:MONDO_0021272 obo:MONDO_0100545) # Class: obo:MONDO_0021279 (mucoepidermoid carcinoma of submandibular gland) @@ -243221,6 +243347,7 @@ AnnotationAssertion(rdfs:comment obo:MONDO_0021944 "Editor note: OMIMPS seems to AnnotationAssertion(rdfs:label obo:MONDO_0021944 "auditory neuropathy"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "GARD:0009274"^^xsd:string) rdfs:seeAlso obo:MONDO_0021944 "https://rarediseases.info.nih.gov/diseases/9274/auditory-neuropathy"^^xsd:anyURI) SubClassOf(obo:MONDO_0021944 obo:MONDO_0037940) +SubClassOf(obo:MONDO_0021944 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "MESH:C538268/inferred"^^xsd:string) obo:MONDO_0021944 ) # Class: obo:MONDO_0021945 (hearing disorder) @@ -244222,7 +244349,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "MONDO:NORD"^^xsd:string) oboInOw AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0023224 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0023224 "inherited reflex epilepsy"^^xsd:string) EquivalentClasses(obo:MONDO_0023224 ObjectIntersectionOf( ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021152))) -SubClassOf(obo:MONDO_0023224 obo:MONDO_0015653) +SubClassOf(obo:MONDO_0023224 obo:MONDO_0100545) SubClassOf(obo:MONDO_0023224 ) # Class: obo:MONDO_0023243 (glass-chapman-hockley syndrome) @@ -244677,7 +244804,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:183500"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0024237 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0024237 "inherited neurodegenerative disorder"^^xsd:string) EquivalentClasses(obo:MONDO_0024237 ObjectIntersectionOf( ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021152))) -SubClassOf(obo:MONDO_0024237 ) +SubClassOf(obo:MONDO_0024237 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "MESH:D020271"^^xsd:string) Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "NCIT:C97073"^^xsd:string) obo:MONDO_0024237 ) # Class: obo:MONDO_0024239 (congenital anomaly of cardiovascular system) @@ -244796,6 +244923,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0024257 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0024257 "hereditary motor neuron disease"^^xsd:string) EquivalentClasses(obo:MONDO_0024257 ObjectIntersectionOf( ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021152))) SubClassOf(obo:MONDO_0024257 obo:MONDO_0024237) +SubClassOf(obo:MONDO_0024257 obo:MONDO_0100546) SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "Orphanet:98505"^^xsd:string) obo:MONDO_0024257 ) # Class: obo:MONDO_0024263 (neonatal aspiration syndrome) @@ -246434,7 +246562,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "GARD:7342"^^xsd:string) oboInOwl AnnotationAssertion(Annotation(oboInOwl:source "MONDO:NORD"^^xsd:string) oboInOwl:inSubset obo:MONDO_0024560 mondo:nord_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0024560 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0024560 "PDA1"^^xsd:string) -SubClassOf(obo:MONDO_0024560 ) +SubClassOf(obo:MONDO_0024560 obo:MONDO_0100547) SubClassOf(obo:MONDO_0024560 ) SubClassOf(obo:MONDO_0024560 ) @@ -247875,8 +248003,11 @@ SubClassOf(obo:MONDO_0025371 ) # Class: obo:MONDO_0025445 (Wieacker-Wolff syndrome (spectrum)) +AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0025445 "https://github.com/monarch-initiative/mondo/issues/7217"^^xsd:anyURI) AnnotationAssertion(mondo:exactMatch obo:MONDO_0025445 ) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0025445 "OMIMPS:314580"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "https://orcid.org/0000-0001-9310-0163"^^xsd:string) Annotation(oboInOwl:hasSynonymType mondo:ABBREVIATION) oboInOwl:hasExactSynonym obo:MONDO_0025445 "ZARD"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "https://orcid.org/0000-0001-9310-0163"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0025445 "ZC4H2-associated rare disorders"^^xsd:string) AnnotationAssertion(oboInOwl:id obo:MONDO_0025445 "MONDO:0025445"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:NORD"^^xsd:string) oboInOwl:inSubset obo:MONDO_0025445 mondo:nord_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0025445 mondo:rare) @@ -249750,16 +249881,24 @@ SubClassOf(Annotation(oboInOwl:source "OMIM:619672"^^xsd:string) obo:MONDO_00305 # Class: obo:MONDO_0030512 (spastic paraplegia 85, autosomal recessive) +AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0030512 "https://github.com/monarch-initiative/mondo/issues/6356"^^xsd:anyURI) +AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0030512 "https://github.com/monarch-initiative/mondo/issues/6752"^^xsd:anyURI) +AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0030512 "https://github.com/monarch-initiative/mondo/issues/6877"^^xsd:anyURI) +AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0030512 "https://github.com/monarch-initiative/mondo/issues/6878"^^xsd:anyURI) AnnotationAssertion(mondo:exactMatch obo:MONDO_0030512 obo:DOID_0112345) +AnnotationAssertion(mondo:exactMatch obo:MONDO_0030512 obo:Orphanet_631082) AnnotationAssertion(mondo:exactMatch obo:MONDO_0030512 ) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0030512 "DOID:0112345"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0030512 "OMIM:619686"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0030512 "Orphanet:631082"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:619686"^^xsd:string) Annotation(oboInOwl:hasSynonymType mondo:ABBREVIATION) oboInOwl:hasExactSynonym obo:MONDO_0030512 "SPG85"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:0858990"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0030512 "autosomal recessive spastic paraplegia type 85"^^xsd:string) AnnotationAssertion(oboInOwl:id obo:MONDO_0030512 "MONDO:0030512"^^xsd:string) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0030512 mondo:inferred_rare) +AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:631082"^^xsd:string) oboInOwl:inSubset obo:MONDO_0030512 mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0030512 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0030512 "spastic paraplegia 85, autosomal recessive"^^xsd:string) -SubClassOf(Annotation(oboInOwl:source "OMIM:619686"^^xsd:string) obo:MONDO_0030512 obo:MONDO_0019064) +SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-4142-7153"^^xsd:string) Annotation(oboInOwl:source "https://orcid.org/0000-0002-5002-8648"^^xsd:string) obo:MONDO_0030512 obo:MONDO_0015150) # Class: obo:MONDO_0030514 (leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy) @@ -250660,8 +250799,10 @@ SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^x # Class: obo:MONDO_0030880 (mandibuloacral dysplasia progeroid syndrome) +AnnotationAssertion(mondo:exactMatch obo:MONDO_0030880 obo:Orphanet_647667) AnnotationAssertion(mondo:exactMatch obo:MONDO_0030880 ) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0030880 "OMIM:619127"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0030880 "Orphanet:647667"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:619127"^^xsd:string) Annotation(oboInOwl:hasSynonymType mondo:ABBREVIATION) oboInOwl:hasExactSynonym obo:MONDO_0030880 "MDPS"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:647667"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0030880 "mandibuloacral dysplasia associated to MTX2"^^xsd:string) AnnotationAssertion(oboInOwl:id obo:MONDO_0030880 "MONDO:0030880"^^xsd:string) @@ -251022,6 +251163,7 @@ SubClassOf(Annotation(oboInOwl:source "DOID:0080232"^^xsd:string) Annotation(obo # Class: obo:MONDO_0030922 (intellectual disability, autosomal dominant 56) +AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0030922 "https://github.com/monarch-initiative/mondo/issues/7248"^^xsd:anyURI) AnnotationAssertion(mondo:exactMatch obo:MONDO_0030922 ) AnnotationAssertion(mondo:exactMatch obo:MONDO_0030922 obo:DOID_0080226) AnnotationAssertion(mondo:exactMatch obo:MONDO_0030922 ) @@ -251030,6 +251172,9 @@ AnnotationAssertion(Annotation(oboInOwl:source "OMIM:617854"^^xsd:string) oboInO AnnotationAssertion(Annotation(oboInOwl:source "DOID:0080226"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0030922 "OMIM:617854"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:relatedTo"^^xsd:string) Annotation(oboInOwl:source "OMIM:617854"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0030922 "Orphanet:442835"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:MEDGEN"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0030922 "UMLS:C4693389"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "PMID:37196051"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0030922 "CLTC-related ID"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "PMID:37196051"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0030922 "CLTC-related disorder"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "PMID:37196051"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0030922 "CLTC-related intellectual disability"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:617854"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0030922 "intellectual disability, autosomal dominant 56"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:617854"^^xsd:string) Annotation(oboInOwl:hasSynonymType mondo:DEPRECATED) oboInOwl:hasRelatedSynonym obo:MONDO_0030922 "MRD56"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "DOID:0080226"^^xsd:string) oboInOwl:hasRelatedSynonym obo:MONDO_0030922 "autosomal dominant intellectual disability 56"^^xsd:string) @@ -251831,7 +251976,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0031037 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0031037 "famililal cerebral cavernous malformations"^^xsd:string) EquivalentClasses(obo:MONDO_0031037 ObjectIntersectionOf(obo:MONDO_0000820 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021152))) SubClassOf(Annotation(oboInOwl:source "DC-OMIM:116860"^^xsd:string) Annotation(oboInOwl:source "MONDO:Entailed"^^xsd:string) Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "OMIMPS:116860"^^xsd:string) obo:MONDO_0031037 obo:MONDO_0000820) -SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "Orphanet:221061/inferred"^^xsd:string) obo:MONDO_0031037 ) +SubClassOf(obo:MONDO_0031037 obo:MONDO_0100545) # Class: obo:MONDO_0031040 (cholestasis, progressive familial intrahepatic, 12) @@ -252380,7 +252525,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "GARD:16306"^^xsd:string) oboInOw AnnotationAssertion(Annotation(oboInOwl:source "MONDO:NORD"^^xsd:string) oboInOwl:inSubset obo:MONDO_0032594 mondo:nord_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0032594 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0032594 "intellectual developmental disorder and retinitis pigmentosa; IDDRP"^^xsd:string) -SubClassOf(Annotation(oboInOwl:source "OMIM:618195"^^xsd:string) obo:MONDO_0032594 ) +SubClassOf(obo:MONDO_0032594 obo:MONDO_0100545) SubClassOf(obo:MONDO_0032594 ) SubClassOf(obo:MONDO_0032594 ObjectSomeValuesFrom(obo:RO_0004029 obo:MONDO_0019200)) @@ -253047,7 +253192,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:477749"^^xsd:string) ob AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:477749"^^xsd:string) oboInOwl:inSubset obo:MONDO_0032814 mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0032814 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0032814 "microangiopathy and leukoencephalopathy, pontine, autosomal dominant"^^xsd:string) -SubClassOf(Annotation(oboInOwl:source "OMIM:618564"^^xsd:string) obo:MONDO_0032814 ) +SubClassOf(obo:MONDO_0032814 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) obo:MONDO_0032814 ) # Class: obo:MONDO_0032819 (hypothyroidism, congenital, nongoitrous, 7) @@ -253186,8 +253331,10 @@ SubClassOf(Annotation(oboInOwl:source "OMIM:618699"^^xsd:string) obo:MONDO_00328 # Class: obo:MONDO_0032882 (Heyn-Sproul-Jackson syndrome) +AnnotationAssertion(mondo:exactMatch obo:MONDO_0032882 obo:Orphanet_658595) AnnotationAssertion(mondo:exactMatch obo:MONDO_0032882 ) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0032882 "OMIM:618724"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0032882 "Orphanet:658595"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:618724"^^xsd:string) Annotation(oboInOwl:hasSynonymType mondo:ABBREVIATION) oboInOwl:hasRelatedSynonym obo:MONDO_0032882 "HESJAS"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:618724"^^xsd:string) oboInOwl:hasRelatedSynonym obo:MONDO_0032882 "HEYN-SPROUL-JACKSON SYNDROME"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:618724"^^xsd:string) oboInOwl:hasRelatedSynonym obo:MONDO_0032882 "Microcephaly, Short Stature, and Impaired Intellectual Development"^^xsd:string) @@ -255277,7 +255424,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:522077"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0033864 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0033864 "infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) obo:MONDO_0033864 obo:MONDO_0002254) -SubClassOf(obo:MONDO_0033864 ) +SubClassOf(obo:MONDO_0033864 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "MONDO:0044636-obsoleted"^^xsd:string) obo:MONDO_0033864 ) # Class: obo:MONDO_0033885 (mitochondrial complex IV deficiency, nuclear-type) @@ -255433,8 +255580,8 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0034099 mondo:ordo_disease) AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:544254"^^xsd:string) oboInOwl:inSubset obo:MONDO_0034099 mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0034099 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0034099 "SYNGAP1-related developmental and epileptic encephalopathy"^^xsd:string) -SubClassOf(obo:MONDO_0034099 obo:MONDO_0015653) SubClassOf(Annotation(oboInOwl:source "Orphanet:544254"^^xsd:string) obo:MONDO_0034099 obo:MONDO_0020071) +SubClassOf(obo:MONDO_0034099 obo:MONDO_0100545) # Class: obo:MONDO_0034103 (infection-related hemolytic uremic syndrome) @@ -255584,7 +255731,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0035133 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0035133 "PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome"^^xsd:string) SubClassOf(obo:MONDO_0035133 obo:MONDO_0002320) SubClassOf(Annotation(oboInOwl:source "Orphanet:589905"^^xsd:string) obo:MONDO_0035133 obo:MONDO_0015159) -SubClassOf(Annotation(oboInOwl:source "OMIM:617991"^^xsd:string) obo:MONDO_0035133 ) +SubClassOf(obo:MONDO_0035133 obo:MONDO_0100545) # Class: obo:MONDO_0035162 (obsolete PIK3CA-related overgrowth syndrome) @@ -255830,7 +255977,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:611237"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0036193 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0036193 "parkinsonism with polyneuropathy"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "OMIM:619279"^^xsd:string) obo:MONDO_0036193 obo:MONDO_0021095) -SubClassOf(Annotation(oboInOwl:source "OMIM:619279"^^xsd:string) obo:MONDO_0036193 ) +SubClassOf(obo:MONDO_0036193 obo:MONDO_0100545) # Class: obo:MONDO_0036484 (Charcot-Marie-Tooth disease, dominant intermediate G) @@ -255930,7 +256077,6 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0036696 mondo:inferred_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0036696 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0036696 "spleen neoplasm"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "NCIT:C3383"^^xsd:string) obo:MONDO_0036696 obo:MONDO_0002334) -SubClassOf(obo:MONDO_0036696 ) SubClassOf(obo:MONDO_0036696 ) # Class: obo:MONDO_0036870 (lymphatic vessel neoplasm) @@ -256299,6 +256445,7 @@ AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:design_pattern"^^xsd:st AnnotationAssertion(oboInOwl:id obo:MONDO_0037870 "MONDO:0037870"^^xsd:string) AnnotationAssertion(rdfs:label obo:MONDO_0037870 "valine metabolism disease"^^xsd:string) SubClassOf(obo:MONDO_0037870 obo:MONDO_0037871) +SubClassOf(obo:MONDO_0037870 obo:MONDO_0045022) # Class: obo:MONDO_0037871 (amino acid metabolism disease) @@ -256315,7 +256462,7 @@ AnnotationAssertion(oboInOwl:hasRelatedSynonym obo:MONDO_0037871 "amino acid dis AnnotationAssertion(oboInOwl:hasRelatedSynonym obo:MONDO_0037871 "amino acidopathy"^^xsd:string) AnnotationAssertion(oboInOwl:id obo:MONDO_0037871 "MONDO:0037871"^^xsd:string) AnnotationAssertion(rdfs:label obo:MONDO_0037871 "amino acid metabolism disease"^^xsd:string) -SubClassOf(obo:MONDO_0037871 obo:MONDO_0045022) +SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) obo:MONDO_0037871 ) # Class: obo:MONDO_0037872 (bordetellosis) @@ -256368,6 +256515,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0037938 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0037938 "inborn disorder of aspartate family metabolism"^^xsd:string) SubClassOf(obo:MONDO_0037938 obo:MONDO_0019189) SubClassOf(obo:MONDO_0037938 obo:MONDO_0037871) +SubClassOf(obo:MONDO_0037938 obo:MONDO_0045022) # Class: obo:MONDO_0037939 (porphyria) @@ -256439,6 +256587,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0040566 mondo:inferred_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0040566 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0040566 "inherited glutathione metabolism disease"^^xsd:string) SubClassOf(obo:MONDO_0040566 obo:MONDO_0019241) +SubClassOf(obo:MONDO_0040566 obo:MONDO_0056803) SubClassOf(Annotation(oboInOwl:source "PMID:33340416"^^xsd:string) obo:MONDO_0040566 obo:MONDO_0100473) # Class: obo:MONDO_0040653 (autosomal recessive ocular albinism) @@ -256904,7 +257053,7 @@ AnnotationAssertion(oboInOwl:hasRelatedSynonym obo:MONDO_0042966 "congenital mit AnnotationAssertion(oboInOwl:id obo:MONDO_0042966 "MONDO:0042966"^^xsd:string) AnnotationAssertion(rdfs:label obo:MONDO_0042966 "inherited mitral valve disease"^^xsd:string) EquivalentClasses(obo:MONDO_0042966 ObjectIntersectionOf( ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021152))) -SubClassOf(obo:MONDO_0042966 ) +SubClassOf(obo:MONDO_0042966 obo:MONDO_0100547) SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) obo:MONDO_0042966 ) # Class: obo:MONDO_0042968 (partial duplication of chromosome 12) @@ -257794,7 +257943,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0044304 mondo:ordo_disease) AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:508523"^^xsd:string) oboInOwl:inSubset obo:MONDO_0044304 mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0044304 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0044304 "hyperphenylalaninemia due to DNAJC12 deficiency"^^xsd:string) -SubClassOf(obo:MONDO_0044304 obo:MONDO_0019189) +SubClassOf(obo:MONDO_0044304 obo:MONDO_0019052) SubClassOf(Annotation(oboInOwl:source "PMID:33340416"^^xsd:string) Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) obo:MONDO_0044304 obo:MONDO_0037871) SubClassOf(obo:MONDO_0044304 ) @@ -258754,7 +258903,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0044725 mondo:ordo_disease) AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:505227"^^xsd:string) oboInOwl:inSubset obo:MONDO_0044725 mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0044725 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0044725 "combined immunodeficiency due to GINS1 deficiency"^^xsd:string) -SubClassOf(Annotation(oboInOwl:source "OMIM:617827"^^xsd:string) obo:MONDO_0044725 obo:MONDO_0021094) +SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-4142-7153"^^xsd:string) obo:MONDO_0044725 obo:MONDO_0015131) # Class: obo:MONDO_0044726 (psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome) @@ -259175,7 +259324,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0044807 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0044807 "inherited dystonia"^^xsd:string) EquivalentClasses(obo:MONDO_0044807 ObjectIntersectionOf(obo:MONDO_0003441 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021152))) SubClassOf(Annotation(oboInOwl:source "NCIT:C35527"^^xsd:string) obo:MONDO_0044807 obo:MONDO_0003441) -SubClassOf(obo:MONDO_0044807 ) +SubClassOf(obo:MONDO_0044807 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "MONDO:0015957"^^xsd:string) obo:MONDO_0044807 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021136)) # Class: obo:MONDO_0044877 (paraneoplastic cerebellar degeneration) @@ -259831,6 +259980,7 @@ AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:design_pattern"^^xsd:st AnnotationAssertion(oboInOwl:id obo:MONDO_0045018 "MONDO:0045018"^^xsd:string) AnnotationAssertion(rdfs:label obo:MONDO_0045018 "creatine biosynthetic process disease"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) obo:MONDO_0045018 obo:MONDO_0037871) +SubClassOf(obo:MONDO_0045018 obo:MONDO_0045022) # Class: obo:MONDO_0045020 (glycine metabolism disease) @@ -259846,6 +259996,7 @@ AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:design_pattern"^^xsd:st AnnotationAssertion(oboInOwl:id obo:MONDO_0045020 "MONDO:0045020"^^xsd:string) AnnotationAssertion(rdfs:label obo:MONDO_0045020 "glycine metabolism disease"^^xsd:string) SubClassOf(obo:MONDO_0045020 obo:MONDO_0037871) +SubClassOf(obo:MONDO_0045020 obo:MONDO_0045022) # Class: obo:MONDO_0045022 (disorder of organic acid metabolism) @@ -260869,10 +261020,13 @@ SubClassOf(Annotation(oboInOwl:source "PMID:28749637"^^xsd:string) obo:MONDO_005 # Class: obo:MONDO_0054837 (intellectual disability, autosomal dominant 57) AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0054837 "https://github.com/monarch-initiative/mondo/issues/4521"^^xsd:anyURI) +AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0054837 "https://github.com/monarch-initiative/mondo/issues/7256"^^xsd:anyURI) AnnotationAssertion(mondo:exactMatch obo:MONDO_0054837 ) AnnotationAssertion(mondo:exactMatch obo:MONDO_0054837 ) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0054837 "OMIM:618050"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:MEDGEN"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0054837 "UMLS:C4748003"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "PMID:29861108"^^xsd:string) Annotation(oboInOwl:hasDbXref "PMID:31558842"^^xsd:string) Annotation(oboInOwl:hasDbXref "PMID:34821460"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0054837 "TLK2-related neurodevelopmental disorder"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "PMID:29861108"^^xsd:string) Annotation(oboInOwl:hasDbXref "PMID:31558842"^^xsd:string) Annotation(oboInOwl:hasDbXref "PMID:34821460"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0054837 "TLK2-related syndrome"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:618050"^^xsd:string) Annotation(oboInOwl:hasDbXref "OMIM:genemap2"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0054837 "intellectual developmental disorder, autosomal dominant 57"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:618050"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0054837 "intellectual disability, autosomal dominant 57"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:618050"^^xsd:string) Annotation(oboInOwl:hasSynonymType mondo:DEPRECATED) oboInOwl:hasRelatedSynonym obo:MONDO_0054837 "MRD57"^^xsd:string) @@ -261222,8 +261376,10 @@ SubClassOf(obo:MONDO_0060502 obo:MONDO_0100500) AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0060507 "https://github.com/monarch-initiative/mondo/issues/4521"^^xsd:anyURI) AnnotationAssertion(mondo:exactMatch obo:MONDO_0060507 ) +AnnotationAssertion(mondo:exactMatch obo:MONDO_0060507 obo:Orphanet_653709) AnnotationAssertion(mondo:exactMatch obo:MONDO_0060507 ) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0060507 "OMIM:617547"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0060507 "Orphanet:653709"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) Annotation(oboInOwl:source "OMIM:617547"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0060507 "UMLS:C4479651"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:617547"^^xsd:string) Annotation(oboInOwl:hasDbXref "OMIM:genemap2"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0060507 "retinal dystrophy with macular staphyloma"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:617547"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0060507 "retinal dystrophy with or without macular staphyloma"^^xsd:string) @@ -261693,6 +261849,7 @@ SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^x # Class: obo:MONDO_0060663 (congenital heart defects, multiple types, 5) AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0060663 "https://github.com/monarch-initiative/mondo/issues/4069"^^xsd:anyURI) +AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0060663 "https://github.com/monarch-initiative/mondo/issues/7195"^^xsd:anyURI) AnnotationAssertion(mondo:exactMatch obo:MONDO_0060663 ) AnnotationAssertion(mondo:exactMatch obo:MONDO_0060663 ) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0060663 "OMIM:617912"^^xsd:string) @@ -261702,7 +261859,8 @@ AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:617912"^^xsd:string) obo AnnotationAssertion(oboInOwl:id obo:MONDO_0060663 "MONDO:0060663"^^xsd:string) AnnotationAssertion(rdfs:label obo:MONDO_0060663 "congenital heart defects, multiple types, 5"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) obo:MONDO_0060663 obo:MONDO_0000119) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) obo:MONDO_0060663 ) +SubClassOf(Annotation(oboInOwl:source "https://clinicalgenome.org/affiliation/40005/"^^xsd:string) obo:MONDO_0060663 obo:MONDO_0100541) +SubClassOf(obo:MONDO_0060663 obo:MONDO_0100547) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-4142-7153"^^xsd:string) obo:MONDO_0060663 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021140)) # Class: obo:MONDO_0060664 (neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities) @@ -261779,7 +261937,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:580940"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0060707 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0060707 "Ververi-Brady syndrome"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "https://clinicalgenome.org/affiliation/40006"^^xsd:string) obo:MONDO_0060707 obo:MONDO_0000508) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) obo:MONDO_0060707 ) +SubClassOf(obo:MONDO_0060707 obo:MONDO_0100545) # Class: obo:MONDO_0060711 (Jaberi-Elahi syndrome) @@ -261953,7 +262111,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0060760 mondo:inferred_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0060760 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0060760 "intellectual developmental disorder with dysmorphic facies and behavioral abnormalities"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "https://clinicalgenome.org/affiliation/40060/"^^xsd:string) obo:MONDO_0060760 obo:MONDO_0000508) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) obo:MONDO_0060760 ) +SubClassOf(obo:MONDO_0060760 obo:MONDO_0100545) # Class: obo:MONDO_0060761 (neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum) @@ -261983,6 +262141,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0060763 mondo:inferred_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0060763 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0060763 "intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "https://clinicalgenome.org/affiliation/40060/"^^xsd:string) obo:MONDO_0060763 obo:MONDO_0000508) +SubClassOf(obo:MONDO_0060763 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "PMID:30580808"^^xsd:string) Annotation(oboInOwl:source "https://orcid.org/0000-0001-7451-4467"^^xsd:string) obo:MONDO_0060763 obo:MONDO_0700120) # Class: obo:MONDO_0060765 (fibroepithelial polyp) @@ -262054,7 +262213,7 @@ AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0100009 "https://github.com/monarc AnnotationAssertion(terms:creator obo:MONDO_0100009 ) AnnotationAssertion(oboInOwl:id obo:MONDO_0100009 "MONDO:0100009"^^xsd:string) AnnotationAssertion(rdfs:label obo:MONDO_0100009 "structural congenital heart disease, multiple types - GATA4"^^xsd:string) -SubClassOf(obo:MONDO_0100009 ) +SubClassOf(obo:MONDO_0100009 obo:MONDO_0100547) SubClassOf(Annotation(oboInOwl:source "https://clinicalgenome.org/affiliation/40130/"^^xsd:string) obo:MONDO_0100009 ) # Class: obo:MONDO_0100016 (early-onset generalized dystonia) @@ -262532,6 +262691,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0100084 "alpha-actinopathy"^^xsd:string SubClassOf(obo:MONDO_0100084 obo:MONDO_0002320) SubClassOf(Annotation(oboInOwl:source "https://github.com/monarch-initiative/mondo/issues/900"^^xsd:string) obo:MONDO_0100084 obo:MONDO_0016139) SubClassOf(Annotation(oboInOwl:source "https://github.com/monarch-initiative/mondo/issues/900"^^xsd:string) obo:MONDO_0100084 obo:MONDO_0019952) +SubClassOf(obo:MONDO_0100084 obo:MONDO_0100545) # Class: obo:MONDO_0100087 (familial Alzheimer disease) @@ -262672,6 +262832,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0100108 "TPM3-related myopathy"^^xsd:st SubClassOf(obo:MONDO_0100108 obo:MONDO_0002320) SubClassOf(Annotation(oboInOwl:source "https://clinicalgenome.org/affiliation/40031/"^^xsd:string) obo:MONDO_0100108 obo:MONDO_0017303) SubClassOf(Annotation(oboInOwl:source "https://clinicalgenome.org/affiliation/40031/"^^xsd:string) obo:MONDO_0100108 obo:MONDO_0019952) +SubClassOf(obo:MONDO_0100108 obo:MONDO_0100545) # Class: obo:MONDO_0100111 (focal segmental glomerulosclerosis and neurodevelopmental syndrome) @@ -263034,7 +263195,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:576278"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0100147 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0100147 "SATB2 associated disorder"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "https://clinicalgenome.org/affiliation/40006/"^^xsd:string) obo:MONDO_0100147 obo:MONDO_0000508) -SubClassOf(obo:MONDO_0100147 ) +SubClassOf(obo:MONDO_0100147 obo:MONDO_0100545) # Class: obo:MONDO_0100148 (X-linked complex neurodevelopmental disorder) @@ -263116,7 +263277,7 @@ AnnotationAssertion(terms:creator obo:MONDO_0100154 ) +SubClassOf(obo:MONDO_0100154 obo:MONDO_0100545) # Class: obo:MONDO_0100157 (Imerslund-Grasbeck syndrome type 2) @@ -263216,6 +263377,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0100172 mondo:inferred_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0100172 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0100172 "intellectual disability, autosomal dominant"^^xsd:string) SubClassOf(obo:MONDO_0100172 obo:MONDO_0000426) +SubClassOf(obo:MONDO_0100172 obo:MONDO_0100545) SubClassOf(obo:MONDO_0100172 ) # Class: obo:MONDO_0100173 (leukemia, acute myeloid, susceptibility to) @@ -263242,6 +263404,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0100175 "TTN-related myopathy"^^xsd:str SubClassOf(obo:MONDO_0100175 obo:MONDO_0002320) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-6601-2165"^^xsd:string) obo:MONDO_0100175 obo:MONDO_0016191) SubClassOf(Annotation(oboInOwl:source "https://clinicalgenome.org/affiliation/40031/"^^xsd:string) obo:MONDO_0100175 obo:MONDO_0019952) +SubClassOf(obo:MONDO_0100175 obo:MONDO_0100545) # Class: obo:MONDO_0100176 (AP-4 deficiency syndrome) @@ -263399,6 +263562,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0100196 "TPM2-related myopathy"^^xsd:st SubClassOf(obo:MONDO_0100196 obo:MONDO_0002320) SubClassOf(Annotation(oboInOwl:source "https://clinicalgenome.org/affiliation/40031/"^^xsd:string) obo:MONDO_0100196 obo:MONDO_0017303) SubClassOf(Annotation(oboInOwl:source "https://clinicalgenome.org/affiliation/40031/"^^xsd:string) obo:MONDO_0100196 obo:MONDO_0019952) +SubClassOf(obo:MONDO_0100196 obo:MONDO_0100545) # Class: obo:MONDO_0100198 (Mendelian encephalopathy) @@ -264521,6 +264685,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0100284 mondo:inferred_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0100284 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0100284 "X-linked intellectual disability"^^xsd:string) SubClassOf(obo:MONDO_0100284 obo:MONDO_0000425) +SubClassOf(obo:MONDO_0100284 obo:MONDO_0100545) SubClassOf(obo:MONDO_0100284 ) # Class: obo:MONDO_0100288 (enhanced S-cone syndrome) @@ -266356,7 +266521,7 @@ AnnotationAssertion(terms:creator obo:MONDO_0100500 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021152))) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-0736-9199"^^xsd:string) Annotation(oboInOwl:source "https://orcid.org/0000-0002-1780-5230"^^xsd:string) obo:MONDO_0100500 ) +SubClassOf(obo:MONDO_0100500 obo:MONDO_0100545) SubClassOf(obo:MONDO_0100500 ) # Class: obo:MONDO_0100509 (IFT140-related recessive ciliopathy) @@ -266526,7 +266691,7 @@ AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0100523 "https://github.com/monarc AnnotationAssertion(terms:creator obo:MONDO_0100523 ) AnnotationAssertion(oboInOwl:id obo:MONDO_0100523 "MONDO:0100523"^^xsd:string) AnnotationAssertion(rdfs:label obo:MONDO_0100523 "SPAST-related motor disorder"^^xsd:string) -SubClassOf(obo:MONDO_0100523 ) +SubClassOf(obo:MONDO_0100523 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "https://clinicalgenome.org/affiliation/40006/"^^xsd:string) obo:MONDO_0100523 ) # Class: obo:MONDO_0100524 (ASAH1-related sphingolipidosis) @@ -266575,6 +266740,59 @@ AnnotationAssertion(oboInOwl:id obo:MONDO_0100534 "MONDO:0100534"^^xsd:string) AnnotationAssertion(rdfs:label obo:MONDO_0100534 "SMARCB1-deficient kidney medullary carcinoma"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "NCIT:C189247"^^xsd:string) obo:MONDO_0100534 ) +# Class: obo:MONDO_0100541 (GATA5-related congenital heart defects) + +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "PMID:22641149"^^xsd:string) Annotation(oboInOwl:hasDbXref "PMID:22961344"^^xsd:string) Annotation(oboInOwl:hasDbXref "PMID:23031282"^^xsd:string) Annotation(oboInOwl:hasDbXref "PMID:23289003"^^xsd:string) Annotation(oboInOwl:hasDbXref "PMID:24638895"^^xsd:string) Annotation(oboInOwl:hasDbXref "https://clinicalgenome.org/affiliation/40130/"^^xsd:string) obo:IAO_0000115 obo:MONDO_0100541 "A congenital heart disease that is present at birth. Representative examples include tetralogy of fallot, bicuspid aortic valve, atrial septal defect, double outlet right ventricle, ventricular septal defect, and coarctation of the aorta, and atrioventricular canal."^^xsd:string) +AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0100541 "https://github.com/monarch-initiative/mondo/issues/7242"^^xsd:anyURI) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "https://clinicalgenome.org/affiliation/40130/"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0100541 "GATA5 related congenital heart defects"^^xsd:string) +AnnotationAssertion(oboInOwl:id obo:MONDO_0100541 "MONDO:0100541"^^xsd:string) +AnnotationAssertion(rdfs:label obo:MONDO_0100541 "GATA5-related congenital heart defects"^^xsd:string) +SubClassOf(Annotation(oboInOwl:source "https://clinicalgenome.org/affiliation/40130/"^^xsd:string) obo:MONDO_0100541 ) + +# Class: obo:MONDO_0100545 (hereditary neurological disease) + +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "https://orcid.org/0000-0002-0736-9199"^^xsd:string) obo:IAO_0000115 obo:MONDO_0100545 "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."^^xsd:string) +AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0100545 "https://github.com/monarch-initiative/mondo/issues/5952"^^xsd:anyURI) +AnnotationAssertion(terms:creator obo:MONDO_0100545 ) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "https://orcid.org/0000-0002-0736-9199"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0100545 "neurogenetic disease"^^xsd:string) +AnnotationAssertion(oboInOwl:id obo:MONDO_0100545 "MONDO:0100545"^^xsd:string) +AnnotationAssertion(rdfs:label obo:MONDO_0100545 "hereditary neurological disease"^^xsd:string) +EquivalentClasses(obo:MONDO_0100545 ObjectIntersectionOf( ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021152))) +SubClassOf(obo:MONDO_0100545 ) +SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-0736-9199"^^xsd:string) obo:MONDO_0100545 ) + +# Class: obo:MONDO_0100546 (hereditary neuromuscular disease) + +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "https://orcid.org/0000-0002-0736-9199"^^xsd:string) obo:IAO_0000115 obo:MONDO_0100546 "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that is characterized by progressive muscle degeneration and weakness."^^xsd:string) +AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0100546 "https://github.com/monarch-initiative/mondo/issues/5952"^^xsd:anyURI) +AnnotationAssertion(terms:creator obo:MONDO_0100546 ) +AnnotationAssertion(oboInOwl:id obo:MONDO_0100546 "MONDO:0100546"^^xsd:string) +AnnotationAssertion(rdfs:label obo:MONDO_0100546 "hereditary neuromuscular disease"^^xsd:string) +EquivalentClasses(obo:MONDO_0100546 ObjectIntersectionOf( ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021152))) +SubClassOf(obo:MONDO_0100546 obo:MONDO_0100545) +SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-0736-9199"^^xsd:string) obo:MONDO_0100546 ) + +# Class: obo:MONDO_0100547 (cardiogenetic disease) + +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "PMID:32341133"^^xsd:string) Annotation(oboInOwl:hasDbXref "https://orcid.org/0000-0002-0736-9199"^^xsd:string) obo:IAO_0000115 obo:MONDO_0100547 "A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the cardiovascular system."^^xsd:string) +AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0100547 "https://github.com/monarch-initiative/mondo/issues/5952"^^xsd:anyURI) +AnnotationAssertion(terms:creator obo:MONDO_0100547 ) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "https://orcid.org/0000-0002-0736-9199"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0100547 "hereditary heart disease"^^xsd:string) +AnnotationAssertion(oboInOwl:id obo:MONDO_0100547 "MONDO:0100547"^^xsd:string) +AnnotationAssertion(rdfs:label obo:MONDO_0100547 "cardiogenetic disease"^^xsd:string) +EquivalentClasses(obo:MONDO_0100547 ObjectIntersectionOf( ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021152))) +SubClassOf(obo:MONDO_0100547 ) +SubClassOf(Annotation(oboInOwl:source "PMID:32341133"^^xsd:string) Annotation(oboInOwl:source "https://orcid.org/0000-0002-0736-9199"^^xsd:string) obo:MONDO_0100547 ) + +# Class: obo:MONDO_0100548 (SERAC1-related neurological disorder) + +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "PMID:28916646"^^xsd:string) Annotation(oboInOwl:hasDbXref "PMID:29686941"^^xsd:string) Annotation(oboInOwl:hasDbXref "PMID:37090937"^^xsd:string) Annotation(oboInOwl:hasDbXref "https://orcid.org/0000-0002-9698-992X"^^xsd:string) obo:IAO_0000115 obo:MONDO_0100548 "Any neurological disorder in which the cause of the disease is a mutation in the SERAC1 gene."^^xsd:string) +AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0100548 "https://github.com/monarch-initiative/mondo/issues/7274"^^xsd:anyURI) +AnnotationAssertion(terms:creator obo:MONDO_0100548 ) +AnnotationAssertion(oboInOwl:id obo:MONDO_0100548 "MONDO:0100548"^^xsd:string) +AnnotationAssertion(rdfs:label obo:MONDO_0100548 "SERAC1-related neurological disorder"^^xsd:string) +SubClassOf(obo:MONDO_0100548 obo:MONDO_0100545) + # Class: obo:MONDO_0600001 (glutaminase deficiency) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "PMID:30575854"^^xsd:string) Annotation(oboInOwl:hasDbXref "PMID:30970188"^^xsd:string) obo:IAO_0000115 obo:MONDO_0600001 "Glutaminase deficiency is characterized by refractory seizures, respiratory failure, brain abnormalities and death in the neonatal period, though milder cases with spastic ataxia-dysarthria have also been reported. This condition is caused by mutations in the glutaminase (GLS) gene."^^xsd:string) @@ -266718,8 +266936,7 @@ AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:patterns/disease_series AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:patterns/disease_series_by_gene"^^xsd:string) oboInOwl:hasExactSynonym obo:MONDO_0700002 "neurological disorder caused by mutation in ATP1A3"^^xsd:string) AnnotationAssertion(oboInOwl:id obo:MONDO_0700002 "MONDO:0700002"^^xsd:string) AnnotationAssertion(rdfs:label obo:MONDO_0700002 "ATP1A3-associated neurological disorder"^^xsd:string) -SubClassOf(obo:MONDO_0700002 ) -SubClassOf(Annotation(oboInOwl:hasDbXref "PMID:20301295"^^xsd:string) Annotation(oboInOwl:hasDbXref "PMID:31178018"^^xsd:string) Annotation(oboInOwl:hasDbXref "PMID:33762331"^^xsd:string) obo:MONDO_0700002 ) +SubClassOf(obo:MONDO_0700002 obo:MONDO_0100545) # Class: obo:MONDO_0700003 (obstetric disorder) @@ -267179,6 +267396,7 @@ AnnotationAssertion(rdfs:comment obo:MONDO_0700068 "This term's classification w AnnotationAssertion(rdfs:label obo:MONDO_0700068 "myopathy caused by variation in POMGNT1"^^xsd:string) SubClassOf(obo:MONDO_0700068 obo:MONDO_0002320) SubClassOf(obo:MONDO_0700068 obo:MONDO_0017741) +SubClassOf(obo:MONDO_0700068 obo:MONDO_0100545) SubClassOf(obo:MONDO_0700068 obo:MONDO_0700223) SubClassOf(obo:MONDO_0700068 ) @@ -267465,7 +267683,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "MONDO:NORD"^^xsd:string) oboInOw AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0700117 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0700117 "SLC6A3-related dopamine transporter deficiency syndrome"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "GARD:0010484"^^xsd:string) rdfs:seeAlso obo:MONDO_0700117 "https://rarediseases.info.nih.gov/diseases/10484/infantile-parkinsonism-dystonia"^^xsd:anyURI) -SubClassOf(obo:MONDO_0700117 ) +SubClassOf(obo:MONDO_0700117 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "PMID:21112253"^^xsd:string) Annotation(oboInOwl:source "PMID:24613933"^^xsd:string) Annotation(oboInOwl:source "PMID:28749637"^^xsd:string) Annotation(oboInOwl:source "https://clinicalgenome.org/affiliation/40097/"^^xsd:string) obo:MONDO_0700117 ) # Class: obo:MONDO_0700120 (BAFopathy) @@ -267755,6 +267973,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "GARD:0008535"^^xsd:string) rdfs: SubClassOf(Annotation(oboInOwl:source "MONDO:0008852"^^xsd:string) Annotation(oboInOwl:source "NCIT:C98889"^^xsd:string) obo:MONDO_0800026 obo:MONDO_0002254) SubClassOf(obo:MONDO_0800026 obo:MONDO_0002320) SubClassOf(Annotation(oboInOwl:source "https://en.wikipedia.org/wiki/Neurocristopathy"^^xsd:string) obo:MONDO_0800026 obo:MONDO_0021635) +SubClassOf(obo:MONDO_0800026 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "OMIM:209880"^^xsd:string) obo:MONDO_0800026 obo:MONDO_0800031) SubClassOf(Annotation(oboInOwl:source "Orphanet:661"^^xsd:string) obo:MONDO_0800026 ) SubClassOf(Annotation(oboInOwl:source "MONDO:0018557"^^xsd:string) obo:MONDO_0800026 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021136)) @@ -267840,6 +268059,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:324588"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0800028 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0800028 "dyskinesia with orofacial involvement, autosomal dominant"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "OMIM:606703"^^xsd:string) obo:MONDO_0800028 obo:MONDO_0031115) +SubClassOf(obo:MONDO_0800028 obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "MONDO:0017657-obsoleted"^^xsd:string) obo:MONDO_0800028 ) # Class: obo:MONDO_0800031 (central hypoventilation syndrome, congenital) @@ -268360,6 +268580,7 @@ AnnotationAssertion(rdfs:label obo:MONDO_0800183 "PAX6-related ocular dysgenesis SubClassOf(obo:MONDO_0800183 obo:MONDO_0002466) SubClassOf(obo:MONDO_0800183 obo:MONDO_0003008) SubClassOf(Annotation(oboInOwl:source "https://clinicalgenome.org/affiliation/40077/"^^xsd:string) Annotation(oboInOwl:source "https://orcid.org/0000-0001-5935-2391"^^xsd:string) obo:MONDO_0800183 obo:MONDO_0100534) +SubClassOf(obo:MONDO_0800183 obo:MONDO_0100545) # Class: obo:MONDO_0800188 (malignant hyperthermia, susceptibility to) @@ -268864,7 +269085,7 @@ AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0800468 "https://github.com/monarc AnnotationAssertion(Annotation(oboInOwl:hasDbXref "PMID:32849172"^^xsd:string) Annotation(oboInOwl:hasDbXref "https://clinicalgenome.org/affiliation/40060/"^^xsd:string) Annotation(oboInOwl:hasSynonymType mondo:CLINGEN_LABEL) oboInOwl:hasExactSynonym obo:MONDO_0800468 "SCN4A-related channelopathy"^^xsd:string) AnnotationAssertion(oboInOwl:id obo:MONDO_0800468 "MONDO:0800468"^^xsd:string) AnnotationAssertion(rdfs:label obo:MONDO_0800468 "SCN4A-related channelopathy"^^xsd:string) -SubClassOf(obo:MONDO_0800468 ) +SubClassOf(obo:MONDO_0800468 obo:MONDO_0100546) SubClassOf(Annotation(oboInOwl:source "PMID:32849172"^^xsd:string) Annotation(oboInOwl:source "https://clinicalgenome.org/affiliation/40060/"^^xsd:string) obo:MONDO_0800468 ) # Class: obo:MONDO_0800470 (TUBB4A-related neurologic disorder) @@ -270004,6 +270225,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0859390 mondo:inferred_rare) AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0859390 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0859390 "epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "OMIMPS:300491"^^xsd:string) obo:MONDO_0859390 obo:MONDO_0015653) +SubClassOf(obo:MONDO_0859390 obo:MONDO_0100545) # Class: obo:MONDO_0859393 (Atelis syndrome) @@ -270117,6 +270339,14 @@ AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0859578 mondo:rare) AnnotationAssertion(rdfs:label obo:MONDO_0859578 "lacrimoauriculodentodigital syndrome 3"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "OMIM:620193"^^xsd:string) obo:MONDO_0859578 obo:MONDO_0007872) +# Class: obo:MONDO_0859689 (hepatobiliary benign neoplasm) + +AnnotationAssertion(mondo:exactMatch obo:MONDO_0859689 obo:DOID_3117) +AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref obo:MONDO_0859689 "DOID:3117"^^xsd:string) +AnnotationAssertion(oboInOwl:id obo:MONDO_0859689 "MONDO:0859689"^^xsd:string) +AnnotationAssertion(rdfs:label obo:MONDO_0859689 "hepatobiliary benign neoplasm"^^xsd:string) +SubClassOf(Annotation(oboInOwl:source "DOID:3117"^^xsd:string) obo:MONDO_0859689 obo:MONDO_0000385) + # Class: obo:MONDO_0957048 (isolated macular dystrophy) AnnotationAssertion(mondo:exactMatch obo:MONDO_0957048 obo:Orphanet_519302) @@ -278896,6 +279126,8 @@ SubClassOf(Annotation(oboInOwl:source "EFO:0002615"^^xsd:string) () AnnotationAssertion(Annotation(oboInOwl:hasDbXref "EFO:0002616"^^xsd:string) obo:IAO_0000115 "Macroglobulinemia is the presence of increased levels of macroglobulins in the circulating blood. It is a Plasma cell dyscrasia, resembling leukemia, with cells of lymphocytic, plasmacytic, or intermediate morphology, which secrete a monoclonal immunoglobulin M component. There is diffuse infiltration by the malignant cells of the bone marrow and also, in many cases, of the spleen, liver, or lymph nodes. The circulating macroglobulin can produce symptoms of hyperviscosity syndrome: weakness, fatigue, bleeding disorders, and visual disturbances. Peak incidence of macroglobulinemia is in the sixth and seventh decades of life."^^xsd:string) +AnnotationAssertion(obo:IAO_0000233 "https://github.com/monarch-initiative/mondo/issues/7120"^^xsd:anyURI) +AnnotationAssertion(obo:IAO_0006012 "2024-05-01"^^xsd:string) AnnotationAssertion(mondo:exactMatch ) AnnotationAssertion(mondo:exactMatch obo:DOID_9080) AnnotationAssertion(Annotation(oboInOwl:source "EFO:0002616"^^xsd:string) Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) mondo:excluded_subClassOf obo:MONDO_0004959) @@ -278913,7 +279145,9 @@ AnnotationAssertion(Annotation(rdfs:comment "preferred label from MONDO"^^xsd:st AnnotationAssertion(Annotation(oboInOwl:hasDbXref "DOID:9080"^^xsd:string) oboInOwl:hasExactSynonym "primary macroglobulinemia"^^xsd:string) AnnotationAssertion(oboInOwl:id "EFO:0002616"^^xsd:string) AnnotationAssertion(oboInOwl:inSubset mondo:inferred_rare) +AnnotationAssertion(oboInOwl:inSubset mondo:obsoletion_candidate) AnnotationAssertion(oboInOwl:inSubset mondo:rare) +AnnotationAssertion(rdfs:comment "Reason of obsoletion: is a phenotype and not a disease - MONDO:excludePhenotype. Term to consider: Waldenstrom macroglobulinemia-MONDO:0100280"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "DOID:9080"^^xsd:string) obo:MONDO_0002273) # Class: () @@ -279718,8 +279952,8 @@ AnnotationAssertion(oboInOwl:id "EFO:0002 AnnotationAssertion(oboInOwl:inSubset mondo:inferred_rare) AnnotationAssertion(oboInOwl:inSubset mondo:rare) EquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021152))) +SubClassOf( obo:MONDO_0100547) SubClassOf(Annotation(oboInOwl:source "EFO:0002945"^^xsd:string) Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) ) -SubClassOf( ) # Class: () @@ -280924,7 +281158,7 @@ AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIMPS:190300"^^xsd:string) o AnnotationAssertion(oboInOwl:id "EFO:0003108"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:862"^^xsd:string) oboInOwl:inSubset mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset mondo:rare) -SubClassOf( ) +SubClassOf( obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "DOID:4990"^^xsd:string) Annotation(oboInOwl:source "MESH:D020329"^^xsd:string) ) # Class: () @@ -282457,7 +282691,7 @@ AnnotationAssertion(Annotation(rdfs:comment "preferred label from MONDO"^^xsd:st AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MESH:D001176"^^xsd:string) oboInOwl:hasExactSynonym "congenital multiple Arthrogryposes"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MESH:D001176"^^xsd:string) oboInOwl:hasExactSynonym "congenital multiple arthrogryposis"^^xsd:string) AnnotationAssertion(oboInOwl:id "EFO:0003857"^^xsd:string) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) ) +SubClassOf( obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "EFO:0003857"^^xsd:string) ) # Class: () @@ -284036,6 +284270,7 @@ AnnotationAssertion(mondo:exactMatch ) AnnotationAssertion(mondo:exactMatch obo:DOID_2986) AnnotationAssertion(mondo:exactMatch obo:NCIT_C34643) +AnnotationAssertion(mondo:exactMatch obo:Orphanet_34145) AnnotationAssertion(mondo:exactMatch ) AnnotationAssertion(Annotation(oboInOwl:source "EFO:0004194"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref "DOID:2986"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:i2s"^^xsd:string) Annotation(oboInOwl:source "MONDO:relatedTo"^^xsd:string) oboInOwl:hasDbXref "ICD9:583.9"^^xsd:string) @@ -284044,7 +284279,7 @@ AnnotationAssertion(oboInOwl:hasDbXref "M AnnotationAssertion(Annotation(oboInOwl:source "DOID:2986"^^xsd:string) Annotation(oboInOwl:source "EFO:0004194"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref "NCIT:C34643"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:NORD"^^xsd:string) oboInOwl:hasDbXref "NORD:1298"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:cjm"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref "OMIMPS:161950"^^xsd:string) -AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentObsolete"^^xsd:string) oboInOwl:hasDbXref "Orphanet:34145"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref "Orphanet:34145"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "DOID:2986"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref "SCTID:68779003"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "DOID:2986"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) Annotation(oboInOwl:source "NCIT:C34643"^^xsd:string) oboInOwl:hasDbXref "UMLS:C0017661"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "DOID:2986"^^xsd:string) oboInOwl:hasExactSynonym "IgA glomerulonephritis"^^xsd:string) @@ -284688,7 +284923,7 @@ AnnotationAssertion(Annotation(rdfs:comment "preferred label from MONDO"^^xsd:st AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:164230"^^xsd:string) Annotation(oboInOwl:hasDbXref "OMIM:genemap2"^^xsd:string) oboInOwl:hasExactSynonym "obsessive-compulsive disorder, susceptibility to"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:Lexical"^^xsd:string) Annotation(oboInOwl:hasDbXref "OMIM:164230"^^xsd:string) Annotation(oboInOwl:hasSynonymType mondo:ABBREVIATION) oboInOwl:hasRelatedSynonym "OCD"^^xsd:string) AnnotationAssertion(oboInOwl:id "EFO:0004242"^^xsd:string) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) ) +SubClassOf( obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "DOID:10933"^^xsd:string) Annotation(oboInOwl:source "MESH:D009771"^^xsd:string) Annotation(oboInOwl:source "NCIT:C88411"^^xsd:string) ) # Class: () @@ -285304,7 +285539,7 @@ AnnotationAssertion(oboInOwl:hasRelatedSynonym "EFO:0004266"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:619"^^xsd:string) oboInOwl:inSubset mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset mondo:rare) -SubClassOf(Annotation(oboInOwl:source "DOID:5426"^^xsd:string) Annotation(oboInOwl:source "EFO:0004266/inferred"^^xsd:string) Annotation(oboInOwl:source "MESH:D016649"^^xsd:string) Annotation(oboInOwl:source "NCIT:C113352/inferred"^^xsd:string) ) +SubClassOf(Annotation(oboInOwl:source "ICD10CM:E28.3"^^xsd:string) Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) ) # Class: () @@ -285719,7 +285954,7 @@ AnnotationAssertion(oboInOwl:inSubset mon SubClassOf(Annotation(oboInOwl:source "DOID:8544"^^xsd:string) Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "NCIT:C3037/inferred"^^xsd:string) obo:MONDO_0002254) SubClassOf(Annotation(oboInOwl:source "EFO:0004540"^^xsd:string) Annotation(oboInOwl:source "MESH:D015673"^^xsd:string) Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) obo:MONDO_0003939) SubClassOf(Annotation(oboInOwl:source "NCIT:C3037"^^xsd:string) obo:MONDO_0021094) -SubClassOf(Annotation(oboInOwl:source "ISBN-13:978-1-259-64403-0"^^xsd:string) ) +SubClassOf( obo:MONDO_0100545) # Class: () @@ -286393,7 +286628,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:856"^^xsd:string) oboIn AnnotationAssertion(oboInOwl:inSubset mondo:rare) SubClassOf(Annotation(oboInOwl:source "NCIT:C35078"^^xsd:string) obo:MONDO_0002254) SubClassOf(Annotation(oboInOwl:source "DOID:11119"^^xsd:string) Annotation(oboInOwl:source "MESH:D005879"^^xsd:string) obo:MONDO_0002420) -SubClassOf(Annotation(oboInOwl:source "MESH:D005879/inferred"^^xsd:string) ) +SubClassOf( obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "MESH:D005879/inferred"^^xsd:string) Annotation(oboInOwl:source "NCIT:C35078"^^xsd:string) ) # Class: () @@ -287405,7 +287640,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "MONDO:NORD"^^xsd:string) oboInOw AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:436242"^^xsd:string) oboInOwl:inSubset mondo:ordo_disease) AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:436242"^^xsd:string) oboInOwl:inSubset mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset mondo:rare) -SubClassOf( ) +SubClassOf( obo:MONDO_0100547) SubClassOf(Annotation(oboInOwl:source "EFO:0005304"^^xsd:string) ) # Class: () @@ -288695,7 +288930,7 @@ AnnotationAssertion(oboInOwl:id "EFO:0005 AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:319691"^^xsd:string) oboInOwl:inSubset mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset mondo:rare) SubClassOf(Annotation(oboInOwl:source "MONDO:cjm"^^xsd:string) obo:MONDO_0001703) -SubClassOf( ) +SubClassOf( obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "DOID:13910/inferred"^^xsd:string) Annotation(oboInOwl:source "EFO:0005580/inferred"^^xsd:string) Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "OMIM:303900/inferred"^^xsd:string) ) # Class: () @@ -288730,7 +288965,7 @@ AnnotationAssertion(oboInOwl:id "EFO:0005 AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:319698"^^xsd:string) oboInOwl:inSubset mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset mondo:rare) SubClassOf(Annotation(oboInOwl:source "DC-OMIM:303800"^^xsd:string) obo:MONDO_0000014) -SubClassOf( ) +SubClassOf( obo:MONDO_0100545) # Class: () @@ -289786,7 +290021,7 @@ AnnotationAssertion(Annotation(oboInOwl:hasDbXref "NCIT:C26874"^^xsd:string) obo AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:180050"^^xsd:string) oboInOwl:hasExactSynonym "retinal detachment"^^xsd:string) AnnotationAssertion(Annotation(rdfs:comment "preferred label from MONDO"^^xsd:string) oboInOwl:hasExactSynonym "retinal detachment"^^xsd:string) AnnotationAssertion(oboInOwl:id "EFO:0005773"^^xsd:string) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) ) +SubClassOf( obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "DOID:5327"^^xsd:string) Annotation(oboInOwl:source "MESH:D012163"^^xsd:string) Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) ) # Class: () @@ -290348,8 +290583,9 @@ AnnotationAssertion(oboInOwl:id "EFO:0005 AnnotationAssertion(oboInOwl:inSubset mondo:inferred_rare) AnnotationAssertion(oboInOwl:inSubset mondo:rare) EquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0700005))) -SubClassOf( obo:MONDO_0015653) +SubClassOf( obo:MONDO_0100545) SubClassOf( obo:MONDO_0700007) +SubClassOf(Annotation(oboInOwl:source "DOID:1827"^^xsd:string) Annotation(oboInOwl:source "EFO:0005917"^^xsd:string) Annotation(oboInOwl:source "MESH:D004829"^^xsd:string) Annotation(oboInOwl:source "NCIT:C3021"^^xsd:string) ) # Class: () @@ -290629,17 +290865,14 @@ SubClassOf(Annotation(oboInOwl:source "EFO:0006343"^^xsd:string) Annotation(oboI # Class: () -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "NCIT:P378"^^xsd:string) obo:IAO_0000115 "A permanent mark left on the skin in the process of wound healing."^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "PMID:29445753"^^xsd:string) obo:IAO_0000115 "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)."^^xsd:string) +AnnotationAssertion(obo:IAO_0000233 "https://github.com/monarch-initiative/mondo/issues/7258"^^xsd:anyURI) AnnotationAssertion(mondo:closeMatch ) -AnnotationAssertion(mondo:exactMatch ) -AnnotationAssertion(mondo:exactMatch obo:NCIT_C34483) +AnnotationAssertion(mondo:exactMatch ) AnnotationAssertion(oboInOwl:hasDbXref "MONDO:0005594"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "EFO:0006346"^^xsd:string) oboInOwl:hasDbXref "MedDRA:20000020"^^xsd:string) -AnnotationAssertion(Annotation(oboInOwl:source "EFO:0006346"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) Annotation(oboInOwl:source "MONDO:otherHierarchy"^^xsd:string) oboInOwl:hasDbXref "NCIT:C34483"^^xsd:string) -AnnotationAssertion(Annotation(oboInOwl:source "EFO:0006346"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref "SCTID:275322007"^^xsd:string) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "NCIT:C34483"^^xsd:string) Annotation(oboInOwl:hasSynonymType mondo:ABBREVIATION) oboInOwl:hasExactSynonym "SCAR"^^xsd:string) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "NCIT:C34483"^^xsd:string) oboInOwl:hasExactSynonym "Scar"^^xsd:string) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "NCIT:C34483"^^xsd:string) oboInOwl:hasExactSynonym "scarring"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref "UMLS:C5554042"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "PMID:29445753"^^xsd:string) Annotation(oboInOwl:hasSynonymType mondo:ABBREVIATION) oboInOwl:hasExactSynonym "SCAR"^^xsd:string) AnnotationAssertion(Annotation(rdfs:comment "preferred label from MONDO"^^xsd:string) oboInOwl:hasExactSynonym "severe cutaneous adverse reaction"^^xsd:string) AnnotationAssertion(oboInOwl:id "EFO:0006346"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "EFO:0006346"^^xsd:string) ) @@ -291342,6 +291575,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:85458"^^xsd:string) obo AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:85458"^^xsd:string) oboInOwl:inSubset mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset mondo:rare) SubClassOf(Annotation(oboInOwl:source "Orphanet:85458"^^xsd:string) obo:MONDO_0018634) +SubClassOf( obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "EFO:0006790"^^xsd:string) Annotation(oboInOwl:source "ICD10CM:I68.0/inferred"^^xsd:string) Annotation(oboInOwl:source "MESH:D016657/inferred"^^xsd:string) Annotation(oboInOwl:source "NCIT:C84625"^^xsd:string) Annotation(oboInOwl:source "Orphanet:85458/inferred"^^xsd:string) ) # Class: () @@ -291619,6 +291853,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:45360"^^xsd:string) obo AnnotationAssertion(oboInOwl:inSubset mondo:rare) SubClassOf( obo:MONDO_0018751) SubClassOf( obo:MONDO_0037940) +SubClassOf( obo:MONDO_0100546) SubClassOf(Annotation(oboInOwl:source "DOID:9849"^^xsd:string) Annotation(oboInOwl:source "MESH:D008575"^^xsd:string) ) # Class: () @@ -293994,11 +294229,13 @@ AnnotationAssertion(mondo:exactMatch ) AnnotationAssertion(mondo:exactMatch ) AnnotationAssertion(mondo:exactMatch obo:DOID_13767) +AnnotationAssertion(mondo:exactMatch obo:Orphanet_658917) AnnotationAssertion(Annotation(oboInOwl:source "EFO:0007210"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref "DOID:13767"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "DOID:13767"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref "ICD10CM:B66.1"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "DOID:13767"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) Annotation(oboInOwl:source "MONDO:i2s"^^xsd:string) oboInOwl:hasDbXref "ICD9:121.1"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "DOID:13767"^^xsd:string) Annotation(oboInOwl:source "EFO:0007210"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref "MESH:D003003"^^xsd:string) AnnotationAssertion(oboInOwl:hasDbXref "MONDO:0005705"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref "Orphanet:658917"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "DOID:13767"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref "SCTID:11938002"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "DOID:13767"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref "UMLS:C0009021"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "DOID:13767"^^xsd:string) oboInOwl:hasExactSynonym "Oriental liver fluke disease"^^xsd:string) @@ -294234,7 +294471,7 @@ AnnotationAssertion(oboInOwl:inSubset mon EquivalentClasses( ObjectIntersectionOf(obo:MONDO_0004843 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021140))) SubClassOf( obo:MONDO_0002320) SubClassOf(Annotation(oboInOwl:source "DOID:9649"^^xsd:string) Annotation(oboInOwl:source "MESH:D020417"^^xsd:string) obo:MONDO_0004843) -SubClassOf( ) +SubClassOf( obo:MONDO_0100545) # Class: () @@ -296035,7 +296272,7 @@ SubClassOf( obo:MONDO_0043953) # Class: () -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "https://www.clinicalgenome.org/affiliation/40026"^^xsd:string) obo:IAO_0000115 "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. Individuals with G6PD variants that cause G6PD deficiency are at risk for acute hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans."^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "https://www.clinicalgenome.org/affiliation/50147/"^^xsd:string) obo:IAO_0000115 "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. Individuals with G6PD variants that cause G6PD deficiency are at risk for 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."^^xsd:string) AnnotationAssertion(obo:IAO_0000233 "https://github.com/monarch-initiative/mondo/issues/6252"^^xsd:anyURI) AnnotationAssertion(mondo:exactMatch ) AnnotationAssertion(mondo:exactMatch ) @@ -299434,12 +299671,14 @@ AnnotationAssertion(mondo:exactMatch ) AnnotationAssertion(mondo:exactMatch obo:DOID_10699) AnnotationAssertion(mondo:exactMatch obo:NCIT_C84995) +AnnotationAssertion(mondo:exactMatch obo:Orphanet_658913) AnnotationAssertion(Annotation(oboInOwl:source "EFO:0007418"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref "DOID:10699"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "DOID:10699"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref "ICD10CM:B66.4"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "DOID:10699"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) Annotation(oboInOwl:source "MONDO:i2s"^^xsd:string) oboInOwl:hasDbXref "ICD9:121.2"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "DOID:10699"^^xsd:string) Annotation(oboInOwl:source "EFO:0007418"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref "MESH:D010237"^^xsd:string) AnnotationAssertion(oboInOwl:hasDbXref "MONDO:0005895"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "DOID:10699"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref "NCIT:C84995"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref "Orphanet:658913"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "DOID:10699"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref "SCTID:30369007"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "DOID:10699"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) Annotation(oboInOwl:source "NCIT:C84995"^^xsd:string) oboInOwl:hasDbXref "UMLS:C0030424"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:patterns/specific_infectious_disease_by_agent"^^xsd:string) oboInOwl:hasExactSynonym "Paragonimus westermani caused disease or disorder"^^xsd:string) @@ -302933,6 +303172,7 @@ AnnotationAssertion(oboInOwl:inSubset mon SubClassOf(Annotation(oboInOwl:source "DOID:8712"^^xsd:string) Annotation(oboInOwl:source "Wikipedia:Neurofibromatosis"^^xsd:string) obo:MONDO_0000426) SubClassOf(Annotation(oboInOwl:source "MESH:D017253"^^xsd:string) Annotation(oboInOwl:source "NCIT:C6727/inferred"^^xsd:string) Annotation(oboInOwl:source "NCIT:C84348"^^xsd:string) obo:MONDO_0015356) SubClassOf(Annotation(oboInOwl:source "MESH:D017253"^^xsd:string) Annotation(oboInOwl:source "NCIT:C6727"^^xsd:string) Annotation(oboInOwl:source "https://www.hopkinsmedicine.org"^^xsd:string) obo:MONDO_0042983) +SubClassOf( obo:MONDO_0100545) # Class: () @@ -304041,7 +304281,6 @@ AnnotationAssertion(oboInOwl:id "EFO:0009 AnnotationAssertion(oboInOwl:inSubset mondo:inferred_rare) AnnotationAssertion(oboInOwl:inSubset mondo:rare) SubClassOf( ) -SubClassOf(Annotation(oboInOwl:source "DOID:10787"^^xsd:string) Annotation(oboInOwl:source "NCIT:C80099"^^xsd:string) ) # Class: () @@ -304117,6 +304356,7 @@ AnnotationAssertion(mondo:exactMatch ) AnnotationAssertion(mondo:exactMatch ) AnnotationAssertion(mondo:exactMatch obo:DOID_0112308) +AnnotationAssertion(mondo:exactMatch obo:Orphanet_650063) AnnotationAssertion(mondo:exactMatch obo:Orphanet_759) AnnotationAssertion(mondo:exactMatch ) AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:759"^^xsd:string) Annotation(oboInOwl:source "https://github.com/Orphanet/ORDO/issues/19"^^xsd:string) Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) mondo:excluded_subClassOf obo:MONDO_0018561) @@ -304126,6 +304366,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "MONDO:i2s"^^xsd:string) Annotati AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref "MESH:C562787"^^xsd:string) AnnotationAssertion(oboInOwl:hasDbXref "MONDO:0019165"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref "OMIMPS:176400"^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref "Orphanet:650063"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref "Orphanet:759"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref "SCTID:237816004"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) Annotation(oboInOwl:source "Orphanet:759"^^xsd:string) Annotation(oboInOwl:source "Orphanet:759/e"^^xsd:string) oboInOwl:hasDbXref "UMLS:C0342543"^^xsd:string) @@ -304744,7 +304985,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "MONDO:NORD"^^xsd:string) oboInOw AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:178493"^^xsd:string) oboInOwl:inSubset mondo:ordo_disease) AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:178493"^^xsd:string) oboInOwl:inSubset mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset mondo:rare) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-5002-8648"^^xsd:string) ) +SubClassOf( obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-4142-7153"^^xsd:string) ) # Class: () @@ -306218,7 +306459,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "GARD:18211"^^xsd:string) oboInOw AnnotationAssertion(Annotation(oboInOwl:source "MONDO:NORD"^^xsd:string) oboInOwl:inSubset mondo:nord_rare) AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:2932"^^xsd:string) oboInOwl:inSubset mondo:ordo_disease) AnnotationAssertion(oboInOwl:inSubset mondo:rare) -SubClassOf( ) +SubClassOf( obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "OMIM:139393"^^xsd:string) Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) ) SubClassOf(Annotation(oboInOwl:source "MONDO:0020008"^^xsd:string) ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021136)) @@ -307745,7 +307986,7 @@ AnnotationAssertion(oboInOwl:inSubset mon AnnotationAssertion(Annotation(oboInOwl:source "GARD:0006614"^^xsd:string) rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/6614/hereditary-ataxia"^^xsd:anyURI) EquivalentClasses( ObjectIntersectionOf(obo:MONDO_0100308 ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021152))) SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-0736-9199"^^xsd:string) obo:MONDO_0100308) -SubClassOf( ) +SubClassOf( obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "https://www.karger.com/Article/FullText/358801"^^xsd:string) ObjectSomeValuesFrom(obo:RO_0000053 obo:MONDO_0021136)) # Class: () @@ -311335,8 +311576,8 @@ AnnotationAssertion(Annotation(rdfs:comment "preferred label from MONDO"^^xsd:st AnnotationAssertion(oboInOwl:id "EFO:1000146"^^xsd:string) AnnotationAssertion(oboInOwl:inSubset mondo:inferred_rare) AnnotationAssertion(oboInOwl:inSubset mondo:rare) -SubClassOf( obo:MONDO_0000653) SubClassOf(Annotation(oboInOwl:source "NCIT:C35688"^^xsd:string) ) +SubClassOf( ) # Class: () @@ -313720,6 +313961,7 @@ AnnotationAssertion(oboInOwl:inSubset mon SubClassOf( obo:MONDO_0018502) SubClassOf( obo:MONDO_0042493) SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "NCIT:C5266"^^xsd:string) ) +SubClassOf( ) # Class: () @@ -317002,7 +317244,7 @@ AnnotationAssertion(oboInOwl:inSubset mon AnnotationAssertion(oboInOwl:inSubset mondo:rare) SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "NCIT:C3308"^^xsd:string) obo:MONDO_0002366) SubClassOf(Annotation(oboInOwl:source "Wikipedia:Neurocristopathy"^^xsd:string) obo:MONDO_0021635) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0002-5002-8648"^^xsd:string) ) +SubClassOf( obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "DOID:0050773"^^xsd:string) Annotation(oboInOwl:source "MESH:D010235"^^xsd:string) Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "NCIT:C3308"^^xsd:string) ) # Class: () @@ -318801,6 +319043,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "MONDO:NORD"^^xsd:string) oboInOw AnnotationAssertion(oboInOwl:inSubset mondo:rare) SubClassOf( obo:MONDO_0001852) SubClassOf(Annotation(oboInOwl:source "MONDO:Redundant"^^xsd:string) Annotation(oboInOwl:source "NCIT:C5635"^^xsd:string) ) +SubClassOf( ) # Class: () @@ -319349,7 +319592,6 @@ AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) AnnotationAssertion(oboInOwl:hasDbXref "MONDO:0019468"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:86871"^^xsd:string) Annotation(oboInOwl:source "Orphanet:86871/e"^^xsd:string) oboInOwl:hasDbXref "MedDRA:10042985"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "EFO:1000560"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref "NCIT:C4752"^^xsd:string) -AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentObsolete"^^xsd:string) oboInOwl:hasDbXref "NCIT:C70649"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref "ONCOTREE:TPLL"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref "Orphanet:86871"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref "SCTID:277545003"^^xsd:string) @@ -320826,9 +321068,8 @@ AnnotationAssertion(Annotation(oboInOwl:source "MONDO:NORD"^^xsd:string) oboInOw AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:300912"^^xsd:string) oboInOwl:inSubset mondo:ordo_group_of_disorders) AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:300912"^^xsd:string) oboInOwl:inSubset mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset mondo:rare) -SubClassOf( obo:MONDO_0004699) SubClassOf(Annotation(oboInOwl:source "Orphanet:300912"^^xsd:string) obo:MONDO_0017594) -SubClassOf( ) +SubClassOf( obo:MONDO_0036696) # Class: () @@ -321106,6 +321347,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:443236"^^xsd:string) ob AnnotationAssertion(oboInOwl:inSubset mondo:rare) SubClassOf(Annotation(oboInOwl:source "DOID:0111154"^^xsd:string) obo:MONDO_0000992) SubClassOf( obo:MONDO_0021272) +SubClassOf( obo:MONDO_0100547) # Class: () @@ -322220,7 +322462,7 @@ SubClassOf(Annotation(oboInOwl:source "DOID:4409"^^xsd:string) Annotation(oboInO # Class: () -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "https://rarediseases.info.nih.gov/diseases/6462/fox-fordyce-disease"^^xsd:string) obo:IAO_0000115 "Fox-Fordyce disease isa chronic skin diseasemost 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."^^xsd:string) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "https://rarediseases.info.nih.gov/diseases/6462/fox-fordyce-disease"^^xsd:string) obo:IAO_0000115 "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."^^xsd:string) AnnotationAssertion(mondo:exactMatch ) AnnotationAssertion(mondo:exactMatch ) AnnotationAssertion(mondo:exactMatch ) @@ -324458,7 +324700,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "DOID:13401"^^xsd:string) Annotat AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:607140"^^xsd:string) oboInOwl:hasExactSynonym "angioid streaks"^^xsd:string) AnnotationAssertion(Annotation(rdfs:comment "preferred label from MONDO"^^xsd:string) oboInOwl:hasExactSynonym "angioid streaks"^^xsd:string) AnnotationAssertion(oboInOwl:id "EFO:1000805"^^xsd:string) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) ) +SubClassOf( obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "DOID:13401"^^xsd:string) Annotation(oboInOwl:source "MESH:D000793"^^xsd:string) ) # Class: () @@ -324907,7 +325149,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:1478"^^xsd:string) oboI AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:1478"^^xsd:string) oboInOwl:inSubset mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset mondo:rare) SubClassOf(Annotation(oboInOwl:source "DOID:1882"^^xsd:string) Annotation(oboInOwl:source "MESH:D006344"^^xsd:string) obo:MONDO_0002078) -SubClassOf( ) +SubClassOf( obo:MONDO_0100547) # Class: () @@ -327382,7 +327624,7 @@ AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:144100"^^xsd:string) obo AnnotationAssertion(Annotation(oboInOwl:hasDbXref "GARD:0006467"^^xsd:string) oboInOwl:hasRelatedSynonym "hyperhidrosis gustatory"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:Lexical"^^xsd:string) Annotation(oboInOwl:hasDbXref "OMIM:144100"^^xsd:string) oboInOwl:hasRelatedSynonym "hyperhidrosis, gustatory"^^xsd:string) AnnotationAssertion(oboInOwl:id "EFO:1000940"^^xsd:string) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) ) +SubClassOf( obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "DOID:11599"^^xsd:string) Annotation(oboInOwl:source "MESH:D013547"^^xsd:string) ) # Class: () @@ -327956,6 +328198,8 @@ SubClassOf(Annotation(oboInOwl:source "NCIT:C3760"^^xsd:string) Annotation(oboIn # Class: () AnnotationAssertion(Annotation(oboInOwl:hasDbXref "NCIT:P378"^^xsd:string) obo:IAO_0000115 "Abnormal enlargement of the eye"^^xsd:string) +AnnotationAssertion(obo:IAO_0000233 "https://github.com/monarch-initiative/mondo/issues/7282"^^xsd:anyURI) +AnnotationAssertion(obo:IAO_0006012 "2024-05-01"^^xsd:string) AnnotationAssertion(mondo:exactMatch ) AnnotationAssertion(mondo:exactMatch obo:DOID_11212) AnnotationAssertion(Annotation(oboInOwl:source "EFO:1000968"^^xsd:string) Annotation(oboInOwl:source "MONDO:equivalentTo"^^xsd:string) oboInOwl:hasDbXref "DOID:11212"^^xsd:string) @@ -327966,7 +328210,9 @@ AnnotationAssertion(oboInOwl:hasDbXref "M AnnotationAssertion(Annotation(rdfs:comment "preferred label from MONDO"^^xsd:string) oboInOwl:hasExactSynonym "hydrophthalmos"^^xsd:string) AnnotationAssertion(oboInOwl:id "EFO:1000968"^^xsd:string) AnnotationAssertion(oboInOwl:inSubset mondo:inferred_rare) +AnnotationAssertion(oboInOwl:inSubset mondo:obsoletion_candidate) AnnotationAssertion(oboInOwl:inSubset mondo:rare) +AnnotationAssertion(rdfs:comment "Reason: duplicate. This will be merged with MONDO:0020366 congenital glaucoma"^^xsd:string) SubClassOf(Annotation(oboInOwl:source "DOID:11212"^^xsd:string) obo:MONDO_0000365) # Class: () @@ -328893,8 +329139,8 @@ AnnotationAssertion(oboInOwl:inSubset mon AnnotationAssertion(Annotation(oboInOwl:source "GARD:0006855"^^xsd:string) rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/6855/landau-kleffner-syndrome"^^xsd:anyURI) SubClassOf(Annotation(oboInOwl:source "DOID:2538"^^xsd:string) obo:MONDO_0000414) SubClassOf(Annotation(oboInOwl:source "NCIT:C84806"^^xsd:string) obo:MONDO_0002254) -SubClassOf( obo:MONDO_0015653) SubClassOf(Annotation(oboInOwl:source "Orphanet:98818"^^xsd:string) Annotation(oboInOwl:source "https://orcid.org/0000-0001-8486-0558"^^xsd:string) obo:MONDO_0020072) +SubClassOf( obo:MONDO_0100545) # Class: () @@ -329623,6 +329869,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "MONDO:NORD"^^xsd:string) oboInOw AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:33475"^^xsd:string) oboInOwl:inSubset mondo:ordo_disease) AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:33475"^^xsd:string) oboInOwl:inSubset mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset mondo:rare) +SubClassOf(Annotation(oboInOwl:source "ICD10CM:A39.0"^^xsd:string) Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) ) SubClassOf(Annotation(oboInOwl:source "DOID:0080176"^^xsd:string) Annotation(oboInOwl:source "MESH:D008585"^^xsd:string) ) # Class: () @@ -334759,6 +335006,7 @@ AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:Lexical"^^xsd:string) A AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:Lexical"^^xsd:string) Annotation(oboInOwl:hasDbXref "OMIM:613035"^^xsd:string) oboInOwl:hasRelatedSynonym "hearing loss, noise-induced, susceptibility to"^^xsd:string) AnnotationAssertion(oboInOwl:id "EFO:1001254"^^xsd:string) SubClassOf( obo:MONDO_0037940) +SubClassOf( obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "EFO:1001254"^^xsd:string) Annotation(oboInOwl:source "MESH:D006317/inferred"^^xsd:string) Annotation(oboInOwl:source "NCIT:C34664"^^xsd:string) ) # Class: () @@ -337667,7 +337915,7 @@ AnnotationAssertion(oboInOwl:id "EFO:1001 AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:458713"^^xsd:string) oboInOwl:inSubset mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset mondo:rare) SubClassOf(Annotation(oboInOwl:source "DOID:0060244"^^xsd:string) obo:MONDO_0004750) -SubClassOf( ) +SubClassOf( obo:MONDO_0100545) # Class: () @@ -339081,7 +339329,7 @@ AnnotationAssertion(Annotation(rdfs:comment "preferred label from MONDO"^^xsd:st AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:608251"^^xsd:string) oboInOwl:hasRelatedSynonym "phobia, simple"^^xsd:string) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:608251"^^xsd:string) oboInOwl:hasRelatedSynonym "phobia, specific"^^xsd:string) AnnotationAssertion(oboInOwl:id "EFO:1001918"^^xsd:string) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) ) +SubClassOf( obo:MONDO_0100545) SubClassOf(Annotation(oboInOwl:source "DOID:599"^^xsd:string) Annotation(oboInOwl:source "EFO:1001918"^^xsd:string) Annotation(oboInOwl:source "MESH:C562465"^^xsd:string) Annotation(oboInOwl:source "NCIT:C35284"^^xsd:string) ) # Class: () @@ -341337,8 +341585,7 @@ AnnotationAssertion(Annotation(oboInOwl:source "GARD:16911"^^xsd:string) oboInOw AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:99807"^^xsd:string) oboInOwl:inSubset mondo:ordo_disease) AnnotationAssertion(Annotation(oboInOwl:source "Orphanet:99807"^^xsd:string) oboInOwl:inSubset mondo:orphanet_rare) AnnotationAssertion(oboInOwl:inSubset mondo:rare) -SubClassOf( ) -SubClassOf(Annotation(oboInOwl:source "https://orcid.org/0000-0001-5208-3432"^^xsd:string) ) +SubClassOf( obo:MONDO_0100545) ) \ No newline at end of file diff --git a/src/ontology/components/subclasses.owl b/src/ontology/components/subclasses.owl index 57438c46..10b205d3 100644 --- a/src/ontology/components/subclasses.owl +++ b/src/ontology/components/subclasses.owl @@ -157,6 +157,14 @@ + + + + + + + + diff --git a/src/ontology/efo-edit.owl b/src/ontology/efo-edit.owl index 43d45fab..16f55bdd 100644 --- a/src/ontology/efo-edit.owl +++ b/src/ontology/efo-edit.owl @@ -16980,6 +16980,7 @@ Declaration(Class(efo:EFO_0022593)) Declaration(Class(efo:EFO_0022594)) Declaration(Class(efo:EFO_0022595)) Declaration(Class(efo:EFO_0022596)) +Declaration(Class(efo:EFO_0022597)) Declaration(Class(efo:EFO_0030000)) Declaration(Class(efo:EFO_0030001)) Declaration(Class(efo:EFO_0030002)) @@ -29544,7 +29545,7 @@ AnnotationAssertion(rdfs:label obo:RO_0001025 "located_in") AnnotationAssertion(rdfs:label obo:RO_0002104 "has_plasma_membrane_part") -# Object Property: obo:RO_0002160 (only in taxon) +# Object Property: obo:RO_0002160 (only_in_taxon) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "PMID:20973947") obo:IAO_0000115 obo:RO_0002160 "S only_in_taxon T iff: S SubClassOf in_taxon only T") AnnotationAssertion(oboInOwl:hasDbXref obo:RO_0002160 "RO:0002160") @@ -43298,10 +43299,6 @@ AnnotationAssertion(oboInOwl:hasDbXref obo:HP_0000708 "HP:0000708") SubClassOf(obo:HP_0000733 obo:HP_0000708) -# Class: obo:HP_0000735 (Impaired social interactions) - -SubClassOf(obo:HP_0000735 obo:HP_0000708) - # Class: obo:HP_0000767 (Pectus excavatum) SubClassOf(obo:HP_0000767 obo:HP_0000765) @@ -128707,7 +128704,7 @@ AnnotationAssertion(obo:IAO_0000115 efo:EFO_0005422 "The gradual irreversible ch AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0005422 "MeSH:D015595") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0005422 "SNOMEDCT:26065007") AnnotationAssertion(rdfs:label efo:EFO_0005422 "skin aging") -SubClassOf(efo:EFO_0005422 obo:GO_0032502) +SubClassOf(efo:EFO_0005422 efo:EFO_0022597) # Class: efo:EFO_0005423 (adolescent idiopathic scoliosis) @@ -204160,6 +204157,15 @@ AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0022596 "NCIT:C13268") AnnotationAssertion(rdfs:label efo:EFO_0022596 "nucleosome"@en) SubClassOf(efo:EFO_0022596 obo:GO_0043232) +# Class: efo:EFO_0022597 (aging) + +AnnotationAssertion(Annotation(efo:definition_citation "GO:0007568") obo:IAO_0000115 efo:EFO_0022597 "A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation.") +AnnotationAssertion(dc:creator efo:EFO_0022597 "Zoe May Pendlington") +AnnotationAssertion(dc:date efo:EFO_0022597 "2024-03-08T09:27:59Z"^^xsd:dateTime) +AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0022597 "SNOMED:248280005") +AnnotationAssertion(rdfs:label efo:EFO_0022597 "aging"@en) +SubClassOf(efo:EFO_0022597 obo:GO_0032502) + # Class: efo:EFO_0030000 (STARmap) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "PMID:29930089") Annotation(oboInOwl:hasDbXref "https://orcid.org/0000-0002-3090-9894") obo:IAO_0000115 efo:EFO_0030000 "STARmap is an image-based technology for 3D intact-tissue RNA sequencing, which integrates hydrogel-tissue chemistry, targeted signal amplification, and in situ sequencing.") diff --git a/src/ontology/imports/chebi_import.owl b/src/ontology/imports/chebi_import.owl index 784badda..7d285793 100644 --- a/src/ontology/imports/chebi_import.owl +++ b/src/ontology/imports/chebi_import.owl @@ -58443,10 +58443,10 @@ - 0 + -1 C6H11O7 - 195.148 - 195.05048 + 195.14730 + 195.05103 chebi_ontology CHEBI:24148 @@ -58459,10 +58459,10 @@ - 0 + -1 C6H11O7 - 195.148 - 195.05048 + 195.14730 + 195.05103 gluconate chebi_ontology CHEBI:24265 diff --git a/src/ontology/imports/fbbt_import.owl b/src/ontology/imports/fbbt_import.owl index fc7572d9..3e53d460 100644 --- a/src/ontology/imports/fbbt_import.owl +++ b/src/ontology/imports/fbbt_import.owl @@ -219,7 +219,7 @@ A continuant cannot be part of an occurrent: use 'participates in'. An - Contiguous region of early embryonic cells that forms a single-cell border between the anlagen of the mesoderm and ectoderm on either side (Campos-Ortega and Hartenstein, 1997). 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). + 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). fly_anatomy.ontology AMesEc mesectoderm ISN @@ -230,9 +230,10 @@ A continuant cannot be part of an occurrent: use 'participates in'. An - Contiguous region of early embryonic cells that forms a single-cell border between the anlagen of the mesoderm and ectoderm on either side (Campos-Ortega and Hartenstein, 1997). 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). + 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). FlyBase:FBrf0089570 FlyBase:FBrf0155831 + FlyBase:FBrf0244630 @@ -354,6 +355,7 @@ A continuant cannot be part of an occurrent: use 'participates in'. An + A(n) primordium that develops into some rectum primordium and some large intestine primordium and some small intestine primordium and some embryonic primordium of adult hindgut precursor. It develops from some inclusive hindgut primordium. fly_anatomy.ontology P2 pHiGP pHiGP2 @@ -362,6 +364,12 @@ A continuant cannot be part of an occurrent: use 'participates in'. An hindgut proper primordium + + + + A(n) primordium that develops into some rectum primordium and some large intestine primordium and some small intestine primordium and some embryonic primordium of adult hindgut precursor. It develops from some inclusive hindgut primordium. + FBC:Autogenerated + @@ -374,6 +382,7 @@ A continuant cannot be part of an occurrent: use 'participates in'. An + A(n) primordium that develops into some Malpighian tubule tip cell primordium and some Malpighian tubule main body primordium. It develops from some inclusive hindgut primordium. fly_anatomy.ontology MTP2 P2 MalT @@ -382,6 +391,12 @@ A continuant cannot be part of an occurrent: use 'participates in'. An Malpighian tubule primordium + + + + A(n) primordium that develops into some Malpighian tubule tip cell primordium and some Malpighian tubule main body primordium. It develops from some inclusive hindgut primordium. + FBC:Autogenerated + @@ -792,6 +807,7 @@ A continuant cannot be part of an occurrent: use 'participates in'. An + Nerve that carries photoreceptor axons to the optic lobe. UBERON:0004904 VFB:FBbt_00001956 fly_anatomy.ontology @@ -799,17 +815,25 @@ A continuant cannot be part of an occurrent: use 'participates in'. An optic nerve + + + + Nerve that carries photoreceptor axons to the optic lobe. + FlyBase:FBrf0013501 + FlyBase:FBrf0064800 + - Insulin-producing neuron with a cell body in the pars intercerebralis. These cells coexpress the genes Insulin-like peptide (Ilp) 2, Ilp3 and Ilp5. + 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). IPC dorsomedial neurosecretory cell VFB:FBbt_00004011 insulin producing cell of brain + mNSC DILP fly_anatomy.ontology FBbt:00004011 @@ -819,7 +843,7 @@ A continuant cannot be part of an occurrent: use 'participates in'. An - Insulin-producing neuron with a cell body in the pars intercerebralis. These cells coexpress the genes Insulin-like peptide (Ilp) 2, Ilp3 and Ilp5. + 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). FlyBase:FBrf0134726 FlyBase:FBrf0136823 FlyBase:FBrf0149175 @@ -828,6 +852,13 @@ A continuant cannot be part of an occurrent: use 'participates in'. An FlyBase:FBrf0193772 FlyBase:FBrf0212696 FlyBase:FBrf0224974 + doi:10.1101/2023.09.11.557222 + + + + + mNSC DILP + doi:10.1101/2023.09.11.557222 @@ -841,17 +872,27 @@ A continuant cannot be part of an occurrent: use 'participates in'. An + A(n) anlage that develops into some inclusive hindgut primordium. It develops from some hindgut anlage in statu nascendi. fly_anatomy.ontology FBbt:00004202 hindgut anlage + + + + A(n) anlage that develops into some inclusive hindgut primordium. It develops from some hindgut anlage in statu nascendi. + FBC:Autogenerated + + Anlage that develops into the ventral ectoderm. It is found in the lateroventral trunk region of the embryo at the cellular blastoderm stage, prior to gastrulation (Stathopoulos and Newcomb, 2020). + presumptive neuroectoderm + ventral/neuroectoderm anlage fly_anatomy.ontology Asn/A VenEc FBbt:00004204 @@ -859,6 +900,24 @@ A continuant cannot be part of an occurrent: use 'participates in'. An ventral ectoderm anlage + + + + Anlage that develops into the ventral ectoderm. It is found in the lateroventral trunk region of the embryo at the cellular blastoderm stage, prior to gastrulation (Stathopoulos and Newcomb, 2020). + FlyBase:FBrf0244630 + + + + + presumptive neuroectoderm + FlyBase:FBrf0244630 + + + + + ventral/neuroectoderm anlage + FlyBase:FBrf0244630 + @@ -1089,6 +1148,7 @@ A continuant cannot be part of an occurrent: use 'participates in'. An + A(n) anlage that develops into some hypopharynx inclusive primordium. It develops from some hypopharynx anlage in statu nascendi. fly_anatomy.ontology A HyPh hypopharynx specific anlage @@ -1097,6 +1157,12 @@ A continuant cannot be part of an occurrent: use 'participates in'. An hypopharynx anlage + + + + A(n) anlage that develops into some hypopharynx inclusive primordium. It develops from some hypopharynx anlage in statu nascendi. + FBC:Autogenerated + @@ -1109,7 +1175,7 @@ A continuant cannot be part of an occurrent: use 'participates in'. An - . + A(n) primordium that develops into some pericardial cell. It develops from some cardiogenic mesoderm. fly_anatomy.ontology pericardial cell specific anlage FBbt:00005466 @@ -1120,8 +1186,8 @@ A continuant cannot be part of an occurrent: use 'participates in'. An - . - FBC:VH + A(n) primordium that develops into some pericardial cell. It develops from some cardiogenic mesoderm. + FBC:Autogenerated @@ -1129,6 +1195,7 @@ A continuant cannot be part of an occurrent: use 'participates in'. An + A(n) primordium that develops into some dorsal pharyngeal muscle cell. It develops from some dorsal pharyngeal muscle anlage. fly_anatomy.ontology P1 ParMus FBbt:00005498 @@ -1136,6 +1203,12 @@ A continuant cannot be part of an occurrent: use 'participates in'. An dorsal pharyngeal muscle primordium + + + + A(n) primordium that develops into some dorsal pharyngeal muscle cell. It develops from some dorsal pharyngeal muscle anlage. + FBC:Autogenerated + @@ -1148,6 +1221,7 @@ A continuant cannot be part of an occurrent: use 'participates in'. An + A(n) primordium that develops into some embryonic posterior Malpighian tubule. It develops from some Malpighian tubule primordium. fly_anatomy.ontology P1 MalTB FBbt:00005501 @@ -1155,6 +1229,12 @@ A continuant cannot be part of an occurrent: use 'participates in'. An Malpighian tubule main body primordium + + + + A(n) primordium that develops into some embryonic posterior Malpighian tubule. It develops from some Malpighian tubule primordium. + FBC:Autogenerated + @@ -1167,6 +1247,7 @@ A continuant cannot be part of an occurrent: use 'participates in'. An + A(n) primordium that develops into some embryonic small intestine. It develops from some hindgut proper primordium. fly_anatomy.ontology P1 SmInt small intestine specific anlage @@ -1175,6 +1256,12 @@ A continuant cannot be part of an occurrent: use 'participates in'. An small intestine primordium + + + + A(n) primordium that develops into some embryonic small intestine. It develops from some hindgut proper primordium. + FBC:Autogenerated + @@ -1187,6 +1274,7 @@ A continuant cannot be part of an occurrent: use 'participates in'. An + A(n) primordium that develops into some embryonic large intestine. It develops from some hindgut proper primordium. fly_anatomy.ontology P1 LaInt large intestine specific anlage @@ -1195,6 +1283,12 @@ A continuant cannot be part of an occurrent: use 'participates in'. An large intestine primordium + + + + A(n) primordium that develops into some embryonic large intestine. It develops from some hindgut proper primordium. + FBC:Autogenerated + @@ -1207,6 +1301,7 @@ A continuant cannot be part of an occurrent: use 'participates in'. An + A(n) primordium that develops into some embryonic/larval rectum. It develops from some hindgut proper primordium. fly_anatomy.ontology P1 Rect rectum specific anlage @@ -1215,6 +1310,12 @@ A continuant cannot be part of an occurrent: use 'participates in'. An rectum primordium + + + + A(n) primordium that develops into some embryonic/larval rectum. It develops from some hindgut proper primordium. + FBC:Autogenerated + @@ -1260,7 +1361,7 @@ A continuant cannot be part of an occurrent: use 'participates in'. An - . + A(n) primordium that develops into some embryonic antennal sense organ. It develops from some antennal anlage. antennal primordium1 antennal primordium2 fly_anatomy.ontology @@ -1275,9 +1376,8 @@ A continuant cannot be part of an occurrent: use 'participates in'. An - . - FBC:VH - https://orcid.org/0000-0002-7073-9172 + A(n) primordium that develops into some embryonic antennal sense organ. It develops from some antennal anlage. + FBC:Autogenerated @@ -1397,24 +1497,38 @@ A continuant cannot be part of an occurrent: use 'participates in'. An + A(n) primordium that develops into some embryonic/larval visceral muscle cell. It develops from some visceral mesoderm. fly_anatomy.ontology ViMusP2 FBbt:00005519 visceral muscle primordium + + + + A(n) primordium that develops into some embryonic/larval visceral muscle cell. It develops from some visceral mesoderm. + FBC:Autogenerated + + A(n) primordium that develops into some hindgut proper primordium and some Malpighian tubule primordium. It develops from some hindgut anlage. fly_anatomy.ontology iHiGP2 FBbt:00005523 inclusive hindgut primordium + + + + A(n) primordium that develops into some hindgut proper primordium and some Malpighian tubule primordium. It develops from some hindgut anlage. + FBC:Autogenerated + @@ -1455,30 +1569,45 @@ A continuant cannot be part of an occurrent: use 'participates in'. An + A(n) primordium that develops into some cibarium primordium and some labial sensory complex primordium and some maxillary sensory complex primordium and some larval foregut atrium. It develops from some dorsal ectoderm. fly_anatomy.ontology GnaP2 FBbt:00005534 gnathal primordium + + + + A(n) primordium that develops into some cibarium primordium and some labial sensory complex primordium and some maxillary sensory complex primordium and some larval foregut atrium. It develops from some dorsal ectoderm. + FBC:Autogenerated + + A(n) primordium that develops into some foregut. fly_anatomy.ontology FoGP2 FBbt:00005535 foregut primordium + + + + A(n) primordium that develops into some foregut. + FBC:Autogenerated + + A(n) primordium that develops into some proventricular ganglion primordium and some frontal ganglion primordium and some hypocerebral/paraesophageal ganglion primordium. It develops from some stomatogastric nervous system anlage. fly_anatomy.ontology P2 SNS SnsP2 @@ -1487,6 +1616,12 @@ A continuant cannot be part of an occurrent: use 'participates in'. An stomatogastric nervous system primordium + + + + A(n) primordium that develops into some proventricular ganglion primordium and some frontal ganglion primordium and some hypocerebral/paraesophageal ganglion primordium. It develops from some stomatogastric nervous system anlage. + FBC:Autogenerated + @@ -1536,11 +1671,18 @@ A continuant cannot be part of an occurrent: use 'participates in'. An + A(n) primordium that develops into some embryonic maxillary sensory complex. It develops from some gnathal primordium. fly_anatomy.ontology FBbt:00005544 maxillary sensory complex primordium + + + + A(n) primordium that develops into some embryonic maxillary sensory complex. It develops from some gnathal primordium. + FBC:Autogenerated + @@ -1548,11 +1690,18 @@ A continuant cannot be part of an occurrent: use 'participates in'. An + A(n) primordium that develops into some embryonic labial sensory complex. It develops from some gnathal primordium. fly_anatomy.ontology FBbt:00005545 labial sensory complex primordium + + + + A(n) primordium that develops into some embryonic labial sensory complex. It develops from some gnathal primordium. + FBC:Autogenerated + @@ -1560,6 +1709,7 @@ A continuant cannot be part of an occurrent: use 'participates in'. An + A(n) primordium that develops into some labral sensory complex. It develops from some clypeo-labral primordium. fly_anatomy.ontology P3 LrSens FBbt:00005546 @@ -1567,6 +1717,12 @@ A continuant cannot be part of an occurrent: use 'participates in'. An labral sensory complex primordium + + + + A(n) primordium that develops into some labral sensory complex. It develops from some clypeo-labral primordium. + FBC:Autogenerated + @@ -1579,6 +1735,7 @@ A continuant cannot be part of an occurrent: use 'participates in'. An + A(n) anlage that develops into some head mesoderm. fly_anatomy.ontology Asn/A TrMes FBbt:00005548 @@ -1586,6 +1743,12 @@ A continuant cannot be part of an occurrent: use 'participates in'. An head mesoderm anlage + + + + A(n) anlage that develops into some head mesoderm. + FBC:Autogenerated + @@ -1598,12 +1761,19 @@ A continuant cannot be part of an occurrent: use 'participates in'. An + A(n) primordium that develops into some embryonic proventriculus. fly_anatomy.ontology PvP3 FBbt:00005550 proventriculus primordium + + + + A(n) primordium that develops into some embryonic proventriculus. + FBC:Autogenerated + @@ -1622,6 +1792,8 @@ A continuant cannot be part of an occurrent: use 'participates in'. An + + A(n) primordium that develops into some embryonic ventral sensory organ precursor cluster group. It develops from some ventral sensory complex anlage and some ventral epidermis primordium. fly_anatomy.ontology P3 VenSens ventral sensory complex specific anlage @@ -1630,6 +1802,12 @@ A continuant cannot be part of an occurrent: use 'participates in'. An ventral sensory complex primordium + + + + A(n) primordium that develops into some embryonic ventral sensory organ precursor cluster group. It develops from some ventral sensory complex anlage and some ventral epidermis primordium. + FBC:Autogenerated + @@ -2428,7 +2606,7 @@ A continuant cannot be part of an occurrent: use 'participates in'. An - Any material anatomical entity (FBbt:00007016) that capable of some hormone secretion (GO:0046879) and has target end location some circulatory system (FBbt:00005057). + Any material anatomical entity (FBbt:00007016) that is capable of has target end location some hormone secretion (GO:0046879) that has target end location some circulatory system (FBbt:00005057). FBbt:00007293 endocrine organ fly_anatomy.ontology @@ -2439,7 +2617,7 @@ A continuant cannot be part of an occurrent: use 'participates in'. An - Any material anatomical entity (FBbt:00007016) that capable of some hormone secretion (GO:0046879) and has target end location some circulatory system (FBbt:00005057). + Any material anatomical entity (FBbt:00007016) that is capable of has target end location some hormone secretion (GO:0046879) that has target end location some circulatory system (FBbt:00005057). FBC:Autogenerated @@ -2549,7 +2727,7 @@ A continuant cannot be part of an occurrent: use 'participates in'. An - Primordium of the amnioserosa in the early extended germ band embryo. + Dorsalmost region of the ectoderm, which will develop into the amnioserosa (Stathopoulos and Newcomb, 2020). P1 amnioserosa fly_anatomy.ontology FBbt:00017000 @@ -2559,8 +2737,9 @@ A continuant cannot be part of an occurrent: use 'participates in'. An - Primordium of the amnioserosa in the early extended germ band embryo. - FBC:VH + Dorsalmost region of the ectoderm, which will develop into the amnioserosa (Stathopoulos and Newcomb, 2020). + FlyBase:FBrf0244630 + FlyBase:FBrf0246683 @@ -2657,18 +2836,12 @@ A continuant cannot be part of an occurrent: use 'participates in'. An - . + Primordium that develops into some component of the larval ring gland. fly_anatomy.ontology FBbt:00017009 ring gland primordium - - - - . - FBC:VH - @@ -2734,7 +2907,7 @@ A continuant cannot be part of an occurrent: use 'participates in'. An - . + A(n) primordium that develops into some embryonic/larval cibarium. It develops from some gnathal primordium. fly_anatomy.ontology atrium primordium FBbt:00017019 @@ -2744,8 +2917,8 @@ A continuant cannot be part of an occurrent: use 'participates in'. An - . - FBC:VH + A(n) primordium that develops into some embryonic/larval cibarium. It develops from some gnathal primordium. + FBC:Autogenerated diff --git a/src/ontology/imports/hp_import.owl b/src/ontology/imports/hp_import.owl index b3833987..a763d19f 100644 --- a/src/ontology/imports/hp_import.owl +++ b/src/ontology/imports/hp_import.owl @@ -25,54 +25,18 @@ - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - @@ -133,12 +97,6 @@ - - - - - - @@ -184,28 +142,8 @@ - is part of - my brain is part of my body (continuant parthood, two material entities) - my stomach cavity is part of my stomach (continuant parthood, immaterial entity is part of material entity) - this day is part of this year (occurrent parthood) a core relation that holds between a part and its whole - Everything is part of itself. Any part of any part of a thing is itself part of that thing. Two distinct things cannot be part of each other. - Occurrents are not subject to change and so parthood between occurrents holds for all the times that the part exists. Many continuants are subject to change, so parthood between continuants will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/ - Parthood requires the part and the whole to have compatible classes: only an occurrent can be part of an occurrent; only a process can be part of a process; only a continuant can be part of a continuant; only an independent continuant can be part of an independent continuant; only an immaterial entity can be part of an immaterial entity; only a specifically dependent continuant can be part of a specifically dependent continuant; only a generically dependent continuant can be part of a generically dependent continuant. (This list is not exhaustive.) - -A continuant cannot be part of an occurrent: use 'participates in'. An occurrent cannot be part of a continuant: use 'has participant'. A material entity cannot be part of an immaterial entity: use 'has location'. A specifically dependent continuant cannot be part of an independent continuant: use 'inheres in'. An independent continuant cannot be part of a specifically dependent continuant: use 'bearer of'. - part_of - - - - - - - - BFO:0000050 - quality - uberon part_of @@ -215,10 +153,6 @@ A continuant cannot be part of an occurrent: use 'participates in'. An part of part of part_of - - - http://www.obofoundry.org/ro/#OBO_REL:part_of - https://wiki.geneontology.org/Part_of @@ -227,12 +161,7 @@ A continuant cannot be part of an occurrent: use 'participates in'. An - inheres in - this fragility is a characteristic of this vase - this red color is a characteristic of this apple a relation between a specifically dependent continuant (the characteristic) and any other entity (the bearer), in which the characteristic depends on the bearer for its existence. - inheres_in - RO:0000052 inheres_in inheres_in @@ -9062,7 +8991,7 @@ A continuant cannot be part of an occurrent: use 'participates in'. An - Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation. + Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation. HP:0007839 Fyler:4866 MSH:D001766 @@ -9080,7 +9009,7 @@ A continuant cannot be part of an occurrent: use 'participates in'. An - Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation. + Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation. PMID:28779882 @@ -9269,6 +9198,7 @@ A continuant cannot be part of an occurrent: use 'participates in'. An + An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex. SNOMEDCT_US:102968003 UMLS:C0522214 @@ -10422,42 +10352,11 @@ A continuant cannot be part of an occurrent: use 'participates in'. An - - Difficulty interacting with others through emotional, physical, or verbal communication. - - - - - - - - MSH:D000067404 - SNOMEDCT_US:88598008 - UMLS:C0150080 - Impaired social interaction - Impaired social interactions - Poor social interactions + HP:0012760 HP:0000735 - Impaired social interactions + obsolete Impaired social interactions + true - - - - Impaired social interaction - - - - - - Impaired social interactions - - - - - - Poor social interactions - - @@ -11920,39 +11819,39 @@ A continuant cannot be part of an occurrent: use 'participates in'. An - - Abnormality of the spine - + + Any abnormality of the vertebral column. + - Abnormality of the vertebral column + Abnormal spine + - - Abnormality of the backbone + + Abnormal vertebral column - - Any abnormality of the vertebral column. - + + Abnormality of the spine + - Abnormal spine - + Abnormality of the vertebral column - - Abnormal vertebral column + + Abnormality of the backbone @@ -14497,7 +14396,7 @@ A continuant cannot be part of an occurrent: use 'participates in'. An - Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. + Syncope is a syndrome in which loss of consciousness is of relatively sudden onset, temporary (usually less than 1 to 2 minutes), self-terminating, and of usually rapid recovery. Syncope leads to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. 2008-02-25T10:37:00Z MSH:D013575 @@ -14512,8 +14411,9 @@ A continuant cannot be part of an occurrent: use 'participates in'. An - Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. + Syncope is a syndrome in which loss of consciousness is of relatively sudden onset, temporary (usually less than 1 to 2 minutes), self-terminating, and of usually rapid recovery. Syncope leads to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. + PMID:29255499 @@ -18192,9 +18092,10 @@ A continuant cannot be part of an occurrent: use 'participates in'. An Pes equinovarus Pes equinus Talipes varus + Fetal foot inversion HP:0001762 - Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus. + Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus. Fetal foot inversion refers to malposition of the foot originating during development involving inversion at the region of the metacarpals or more usually the subtalar joint and represents the prenatal sonographic equivalent of talipes equinovarus. Talipes equinovarus @@ -27199,6 +27100,7 @@ A continuant cannot be part of an occurrent: use 'participates in'. An Abnormal liver enzymes Abnormal liver function Abnormal liver function tests + Elevated circulating hepatic transaminase activity Elevated liver enzymes Elevated serum transaminases Elevated transaminases @@ -27210,7 +27112,7 @@ A continuant cannot be part of an occurrent: use 'participates in'. An Subclinical abnormal liver function tests Elevated liver function tests HP:0002910 - Elevated hepatic transaminase + Elevated circulating hepatic transaminase concentration @@ -28707,6 +28609,7 @@ A continuant cannot be part of an occurrent: use 'participates in'. An SNOMEDCT_US:59606006 UMLS:C0409495 Abnormally indented hip sockets + Acetabular protrusion Protrusio acetabulae HP:0003179 @@ -47270,6 +47173,7 @@ A continuant cannot be part of an occurrent: use 'participates in'. An + An odontogenic tumor of the cementum of tooth. 2013-08-12T08:55:10Z @@ -47654,7 +47558,7 @@ A continuant cannot be part of an occurrent: use 'participates in'. An Delayed milestone development Delayed social development HP:0012434 - This term should be applied to describe a child whose social development is delayed compared to age-related norms. For instance, at the age of three months, a child smiles in response to social interaction. At the age of seven months, a child responds to the facial expressions of others. And at the age of 12 months, a child is shy around strangers. + This term may be applied to describe a child whose social development is delayed compared to age-related norms. For instance, at the age of three months, a child smiles in response to social interaction;. aAt the age of seven months, a child responds to the facial expressions of others;. aAnd at the age of 12 months, a child is shy around strangers. Delayed early-childhood social milestone development @@ -48399,6 +48303,7 @@ A continuant cannot be part of an occurrent: use 'participates in'. An + A vasovagal episode or vasovagal syncope is the most common form of reflex syncope. Reflex syncope is a general term used to describe types of syncope resulting from a failure in autoregulation of blood pressure, and ultimately, in cerebral perfusion pressure resulting in transient loss of consciousness. The mechanisms responsible for this are complex and involve both depression of cardiac output as well as a decrease in vascular tone. 2014-02-15T01:33:13Z MSH:D013575 @@ -48411,9 +48316,16 @@ A continuant cannot be part of an occurrent: use 'participates in'. An Neurocardiogenic syncope Reflex syncope Situational syncope + Vasovagal episode HP:0012668 Vasovagal syncope + + + + A vasovagal episode or vasovagal syncope is the most common form of reflex syncope. Reflex syncope is a general term used to describe types of syncope resulting from a failure in autoregulation of blood pressure, and ultimately, in cerebral perfusion pressure resulting in transient loss of consciousness. The mechanisms responsible for this are complex and involve both depression of cardiac output as well as a decrease in vascular tone. + PMID:29262088 + @@ -48710,6 +48622,52 @@ A continuant cannot be part of an occurrent: use 'participates in'. An + + + + + 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. + + + + + + 2014-04-03T12:52:44Z + HP:0000735 + UMLS:C4022736 + Impaired social interaction + Impaired social interactions + Impaired social reciprocity + Poor social interactions + Reduced friendship reciprocity + HP:0012760 + Reciprocity can be assessed by determining the extent to which a child demonstrates activity similar to that of peers or of the examiner (e.g., playing the same game), shows turn-taking behavior, or recognizes the intentions of the other person and contributes to an activity that a peer or the examiner has initiated. In the diagnostic process, it may be difficult to decide whether limitations in social behavior of children with intellectual disability (ID) are due to a co-occurring autism spectrum disorder (ASD) and are often unduly attributed to the ID, a phenomenon also known as diagnostic overshadowing. This term is intended to apply to impaired social reciprocity that is not attributed to ID. + Reduced social reciprocity + + + + + 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. + PMID:28707360 + + + + + Impaired social reciprocity + + + + + + + + + Poor social interactions + + + + + @@ -49598,11 +49556,11 @@ A continuant cannot be part of an occurrent: use 'participates in'. An - - A spasm (sudden, involuntary constriction) of the bronchioles. + HP:4000007 2017-04-23T12:52:53Z - Bronchospasm + obsolete Bronchospasm + true @@ -51163,7 +51121,7 @@ A continuant cannot be part of an occurrent: use 'participates in'. An - An abnormally high concentration in the circulation of aspartate aminotransferase (AST). + The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal. 2018-07-07T13:54:55Z Aspartate aminotransferase increased @@ -52338,8 +52296,9 @@ A continuant cannot be part of an occurrent: use 'participates in'. An + - Involuntary sounds produced by moving air through the nose, mouth, or throat. The vocal cords are not involved in all tics that produce sound. + Tics are defined as movements or sounds that resemble physiological motor behaviors, but are typically inopportune to social context and appear sudden, repetitive, and often exaggerated. Tic vocalizations commonly termed vocal or phonic tics may include any possible sound (eg, sniffing, coughing, throat clearing, whistling, or grunting), word, or sentence and are most commonly encountered within the spectrum of primary tic disorders, as Tourette syndrome. @@ -52352,8 +52311,15 @@ A continuant cannot be part of an occurrent: use 'participates in'. An Verbal tics Vocal tics HP:0100035 + In Tourette syndrome (TS), affected individuals have tics, including phonic and vocal behaviors, that are typically preceded by premonitory urges and can be suppressed voluntarily. Individuals with autism spectrum disorders (ASD) may also present with vocal tics. However, in ASD premonitory urges and overall vocal tic awareness may be reduced compared to people with primary tic disorders and TS. Phonic tics have been described in a variety of other disorders including Klinefelter, fragile X, and Adams-Oliver syndrome, monosomy 9p and trisomy 16p, neurodegenerative syndromes such as Huntington disease. Furthermore, chorea-acanthocytosis because of VPS13A mutations, Amyotrophic lateral sclerosis frontotemporal dementia overlap syndromes, progressive supranuclear palsy, and pantothenate kinase-associated neurodegeneration may present with vocal tics. Neurometabolic disorders such as Wilson's disease or phenylketonuria, focal brain lesions, infectious, and other autoimmune diseases are additional causes of vocal tics. Finally, phonic or vocal tics may also be drug-induced, either directly related to the acute effects of drugs (e.g., cocaine) or as a long-term consequence, such as in tardive tic disorders. Phonic tics + + + + Tics are defined as movements or sounds that resemble physiological motor behaviors, but are typically inopportune to social context and appear sudden, repetitive, and often exaggerated. Tic vocalizations commonly termed vocal or phonic tics may include any possible sound (eg, sniffing, coughing, throat clearing, whistling, or grunting), word, or sentence and are most commonly encountered within the spectrum of primary tic disorders, as Tourette syndrome. + PMID:31651053 + diff --git a/src/ontology/imports/hp_terms.txt b/src/ontology/imports/hp_terms.txt index 1d835ca0..23ca16df 100644 --- a/src/ontology/imports/hp_terms.txt +++ b/src/ontology/imports/hp_terms.txt @@ -1374,6 +1374,7 @@ http://purl.obolibrary.org/obo/HP_0012736 http://purl.obolibrary.org/obo/HP_0012745 http://purl.obolibrary.org/obo/HP_0012758 http://purl.obolibrary.org/obo/HP_0012759 +http://purl.obolibrary.org/obo/HP_0012760 http://purl.obolibrary.org/obo/HP_0012762 http://purl.obolibrary.org/obo/HP_0012803 http://purl.obolibrary.org/obo/HP_0012809 diff --git a/src/ontology/imports/oba_bot.owl b/src/ontology/imports/oba_bot.owl index 0c50eb97..79fd9ece 100644 --- a/src/ontology/imports/oba_bot.owl +++ b/src/ontology/imports/oba_bot.owl @@ -14256,6 +14256,17 @@ For example, A and B may be gene products and binding of B by A positively regul + + + + + + Any aromatic carboxylic acid that consists of benzene in which at least a single hydrogen has been substituted by a carboxy group. + benzoic acids + + + + @@ -14681,6 +14692,22 @@ For example, A and B may be gene products and binding of B by A positively regul + + + + + + + + + + + Any terpenoid derived from a diterpene. The term includes compounds in which the C20 skeleton of the parent diterpene has been rearranged or modified by the removal of one or more skeletal atoms (generally methyl groups). + diterpenoid + + + + @@ -15368,6 +15395,16 @@ For example, A and B may be gene products and binding of B by A positively regul + + + + + Any lipid formally derived from isoprene (2-methylbuta-1,3-diene), the skeleton of which can generally be discerned in repeated occurrence in the molecule. The skeleton of isoprenoids may differ from strict additivity of isoprene units by loss or shift of a fragment, commonly a methyl group. The class includes both hydrocarbons and oxygenated derivatives. + isoprenoid + + + + @@ -16968,6 +17005,22 @@ For example, A and B may be gene products and binding of B by A positively regul + + + + + + + + + + + Any isoprenoid that is a natural product or related compound formally derived from isoprene units. Terpenoids may contain oxygen in various functional groups. This class is subdivided according to the number of carbon atoms in the parent terpene. The skeleton of terpenoids may differ from strict additivity of isoprene units by the loss or shift of a fragment, generally a methyl group. + terpenoid + + + + @@ -21505,6 +21558,37 @@ For example, A and B may be gene products and binding of B by A positively regul + + + + + + + + + + + + + + + + + + + A tetracyclic diterpenoid isolated from plant species of the genus Taxus. + 0 + C31H38O11 + InChI=1S/C31H38O11/c1-15-19(34)13-31(38)26(41-27(37)18-10-8-7-9-11-18)24-29(6,20(35)12-21-30(24,14-39-21)42-17(3)33)25(36)23(40-16(2)32)22(15)28(31,4)5/h7-11,19-21,23-24,26,34-35,38H,12-14H2,1-6H3/t19-,20-,21+,23+,24-,26-,29+,30-,31+/m0/s1 + OVMSOCFBDVBLFW-VHLOTGQHSA-N + 586.62682 + 586.24141 + [H][C@]12[C@H](OC(=O)c3ccccc3)[C@]3(O)C[C@H](O)C(C)=C([C@@H](OC(C)=O)C(=O)[C@]1(C)[C@@H](O)C[C@H]1OC[C@@]21OC(C)=O)C3(C)C + baccatin III + + + + @@ -23861,6 +23945,27 @@ For example, A and B may be gene products and binding of B by A positively regul + + + + + + A hydrocarbon of biological origin having carbon skeleton formally derived from isoprene [CH2=C(CH3)CH=CH2]. + terpene + + + + + + + + + A C20 terpene. + diterpene + + + + @@ -24582,6 +24687,15 @@ For example, A and B may be gene products and binding of B by A positively regul + + + + + terpenoid fundamental parent + + + + @@ -25183,6 +25297,23 @@ For example, A and B may be gene products and binding of B by A positively regul + + + + + + + + + + + + Esters of benzoic acid or substituted benzoic acids. + benzoate ester + + + + @@ -25199,6 +25330,23 @@ For example, A and B may be gene products and binding of B by A positively regul + + + + + + 0 + C20H36 + InChI=1S/C20H36/c1-14-7-6-11-20(5)12-10-17-15(2)8-9-16(13-18(14)20)19(17,3)4/h14-18H,6-13H2,1-5H3/t14-,15-,16+,17+,18-,20+/m1/s1 + DKPFODGZWDEEBT-QFIAKTPHSA-N + 276.49984 + 276.28170 + [H][C@]12CC[C@@H](C)[C@]([H])(CC[C@]3(C)CCC[C@@H](C)[C@@]3([H])C1)C2(C)C + taxane + + + + @@ -27286,6 +27434,48 @@ For example, A and B may be gene products and binding of B by A positively regul + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A tetracyclic diterpenoid isolated originally from the bark of the Pacific yew tree, Taxus brevifolia. It is a mitotic inhibitor used in cancer chemotherapy. Note that the use of the former generic name 'taxol' is now limited, as Taxol is a registered trade mark. + 0 + C47H51NO14 + InChI=1S/C47H51NO14/c1-25-31(60-43(56)36(52)35(28-16-10-7-11-17-28)48-41(54)29-18-12-8-13-19-29)23-47(57)40(61-42(55)30-20-14-9-15-21-30)38-45(6,32(51)22-33-46(38,24-58-33)62-27(3)50)39(53)37(59-26(2)49)34(25)44(47,4)5/h7-21,31-33,35-38,40,51-52,57H,22-24H2,1-6H3,(H,48,54)/t31-,32-,33+,35-,36+,37+,38-,40-,45+,46-,47+/m0/s1 + RCINICONZNJXQF-MZXODVADSA-N + 853.90618 + 853.33096 + [H][C@]12[C@H](OC(=O)c3ccccc3)[C@]3(O)C[C@H](OC(=O)[C@H](O)[C@@H](NC(=O)c4ccccc4)c4ccccc4)C(C)=C([C@@H](OC(C)=O)C(=O)[C@]1(C)[C@@H](O)C[C@H]1OC[C@@]21OC(C)=O)C3(C)C + paclitaxel + + + + @@ -28288,6 +28478,21 @@ For example, A and B may be gene products and binding of B by A positively regul + + + + + + + + + + + taxane diterpenoid + + + + @@ -28774,6 +28979,16 @@ For example, A and B may be gene products and binding of B by A positively regul + + + + + A diterpenoid with a tetracyclic skeleton. + tetracyclic diterpenoid + + + + @@ -30995,6 +31210,16 @@ For example, A and B may be gene products and binding of B by A positively regul + + + + + Any substance that interacts with tubulin to inhibit or promote polymerisation of microtubules. + tubulin modulator + + + + @@ -31381,6 +31606,16 @@ For example, A and B may be gene products and binding of B by A positively regul + + + + + Any substance that interacts with tubulin to promote polymerisation of microtubules. + microtubule-stabilising agent + + + + @@ -31531,6 +31766,17 @@ For example, A and B may be gene products and binding of B by A positively regul + + + + + + An ester where the ester linkage is bonded directly to an aromatic system. + aromatic ester + + + + @@ -74618,6 +74864,58 @@ For example, A and B may be gene products and binding of B by A positively regul + + + + + + + + + + + + + + + + + + + + + + isoprenoid metabolic process + + + + + + + + + + + + + + + + + + + + + + + + + + terpenoid metabolic process + + + + @@ -80295,6 +80593,61 @@ For example, A and B may be gene products and binding of B by A positively regul + + + + + + + + + + + + + + + + + + + + + + + + isoprenoid biosynthetic process + + + + + + + + + + + + + + + + + + + + + + + + + + + isoprenoid catabolic process + + + + @@ -96607,6 +96960,140 @@ For example, A and B may be gene products and binding of B by A positively regul + + + + + + + + + + + + + + + + + + + + + + diterpenoid metabolic process + + + + + + + + + + + + + + + + + + + + + + + + + + + diterpenoid biosynthetic process + + + + + + + + + + + + + + + + + + + + + + + + + + + diterpenoid catabolic process + + + + + + + + + + + + + + + + + + + + + + + + + + + terpenoid biosynthetic process + + + + + + + + + + + + + + + + + + + + + + + + + + + terpenoid catabolic process + + + + @@ -100087,6 +100574,33 @@ For example, A and B may be gene products and binding of B by A positively regul + + + + + + + + + + + + + + + + + + + + + + + regulation of isoprenoid metabolic process + + + + @@ -100379,6 +100893,32 @@ For example, A and B may be gene products and binding of B by A positively regul + + + + + + + + + + + + + + + + + + + + + + isoprenoid binding + + + + @@ -126568,6 +127108,33 @@ For example, A and B may be gene products and binding of B by A positively regul + + + + + + + + + + + + + + + + + + + + + + + terpene metabolic process + + + + @@ -128354,6 +128921,33 @@ For example, A and B may be gene products and binding of B by A positively regul + + + + + + + + + + + + + + + + + + + + + + https://github.com/geneontology/go-ontology/issues/21750 + paclitaxel biosynthetic process + + + + @@ -137319,6 +137913,62 @@ For example, A and B may be gene products and binding of B by A positively regul + + + + + + + + + + + + + + + + + + + + + + + + negative regulation of isoprenoid metabolic process + + + + + + + + + + + + + + + + + + + + + + + + + + + + positive regulation of isoprenoid metabolic process + + + + @@ -139750,6 +140400,62 @@ For example, A and B may be gene products and binding of B by A positively regul + + + + + + + + + + + + + + + + + + + + + + + + terpene biosynthetic process + + + + + + + + + + + + + + + + + + + + + + + + + + + + terpene catabolic process + + + + @@ -142389,6 +143095,58 @@ For example, A and B may be gene products and binding of B by A positively regul + + + + + + + + + + + + + + + + + + + + + + isoprenoid transport + + + + + + + + + + + + + + + + + + + + + + + + + + terpenoid transport + + + + @@ -220179,6 +220937,53 @@ For example, A and B may be gene products and binding of B by A positively regul + + + + + + + + + + + + + + + + + + + + + + response to diterpene + + + + + + + + + + + + + + + + + + + + + cellular response to diterpene + + + + @@ -430333,6 +431138,107 @@ For example, A and B may be gene products and binding of B by A positively regul + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A trait that affects the response to a stimulus with taxane. + https://orcid.org/0000-0001-8314-2140 + https://orcid.org/0000-0002-7073-9172 + response to taxane trait + trait in response to taxane + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A trait that affects the response to a stimulus with paclitaxel. + https://orcid.org/0000-0001-8314-2140 + https://orcid.org/0000-0002-7073-9172 + response to paclitaxel trait + trait in response to paclitaxel + + + + diff --git a/src/ontology/imports/oba_import.owl b/src/ontology/imports/oba_import.owl index 58dab758..3c6cc986 100644 --- a/src/ontology/imports/oba_import.owl +++ b/src/ontology/imports/oba_import.owl @@ -2256,6 +2256,18 @@ A continuant cannot be part of an occurrent: use 'participates in'. An + + + + A trait that affects the response to a stimulus with paclitaxel. + https://orcid.org/0000-0001-8314-2140 + https://orcid.org/0000-0002-7073-9172 + response to paclitaxel trait + trait in response to paclitaxel + + + + diff --git a/src/ontology/imports/oba_terms.txt b/src/ontology/imports/oba_terms.txt index db1ec9f9..0c1924f1 100644 --- a/src/ontology/imports/oba_terms.txt +++ b/src/ontology/imports/oba_terms.txt @@ -116,6 +116,7 @@ http://purl.obolibrary.org/obo/OBA_2001032 http://purl.obolibrary.org/obo/OBA_2001033 http://purl.obolibrary.org/obo/OBA_2020000 http://purl.obolibrary.org/obo/OBA_2020007 +http://purl.obolibrary.org/obo/OBA_2040073 http://purl.obolibrary.org/obo/OBA_2040153 http://purl.obolibrary.org/obo/OBA_2040154 http://purl.obolibrary.org/obo/OBA_2040155 diff --git a/src/ontology/imports/uberon_import.owl b/src/ontology/imports/uberon_import.owl index db08bba8..e868dcdc 100644 --- a/src/ontology/imports/uberon_import.owl +++ b/src/ontology/imports/uberon_import.owl @@ -17035,6 +17035,12 @@ A continuant cannot be part of an occurrent: use 'participates in'. An + + + + + + One of two laterally paired arteries that supplies the kidneys. These are large arteries that branch from the dorsal aorta in primitive vertebrates. renal arteries vary widely even in humans. Sub-structures should be checked for taxon variability. @@ -20044,6 +20050,12 @@ A continuant cannot be part of an occurrent: use 'participates in'. An + + + + + + @@ -26987,6 +26999,12 @@ A continuant cannot be part of an occurrent: use 'participates in'. An + + + + + + @@ -38049,12 +38067,6 @@ A continuant cannot be part of an occurrent: use 'participates in'. An - - - - - - @@ -38823,12 +38835,14 @@ A continuant cannot be part of an occurrent: use 'participates in'. An - A paired organ of the urinary tract which has the production of urine as its primary function. + 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. One of either of a pair of structures lying on either side of the dorsal aorta in which fluid balance is regulated and waste is excreted out in the form of urine.[AAO] renal + + AAO:0000250 BTO:0000671 CALOHA:TS-0510 @@ -38862,9 +38876,12 @@ A continuant cannot be part of an occurrent: use 'participates in'. An - A paired organ of the urinary tract which has the production of urine as its primary function. + 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. + PMID:25140012 + PMID:35003210 Wikipedia:Kidney http://anatomy.uams.edu/anatomyhtml/kidney.html + https://www.kidney.org/kidneydisease/top-5-jobs-kidneys-do @@ -53708,6 +53725,12 @@ A continuant cannot be part of an occurrent: use 'participates in'. An + + + + + + The part of the ventral body cavity that is within the abdomen proper (excluding the pelvic cavity). in FMA this contains the pelvic cavity, but this is inconsistent with the concept of abdominopelvic cavity EFO:0000213 @@ -62884,6 +62907,12 @@ A continuant cannot be part of an occurrent: use 'participates in'. An + + + + + + @@ -73649,6 +73678,12 @@ A continuant cannot be part of an occurrent: use 'participates in'. An + + + + + + @@ -77011,24 +77046,6 @@ A continuant cannot be part of an occurrent: use 'participates in'. An /////////////////////////////////////////////////////////////////////////////////////// --> - - - - - - - - - - - - - - - - - - diff --git a/src/ontology/iri_dependencies/hp_terms.txt b/src/ontology/iri_dependencies/hp_terms.txt index eea72308..1182e51d 100644 --- a/src/ontology/iri_dependencies/hp_terms.txt +++ b/src/ontology/iri_dependencies/hp_terms.txt @@ -1625,3 +1625,4 @@ http://purl.obolibrary.org/obo/HP_0010465 http://purl.obolibrary.org/obo/HP_0007620 http://purl.obolibrary.org/obo/HP_0002683 http://purl.obolibrary.org/obo/HP_0031508 +http://purl.obolibrary.org/obo/HP_0012760 diff --git a/src/ontology/iri_dependencies/oba_terms.txt b/src/ontology/iri_dependencies/oba_terms.txt index 68972167..f7154e49 100644 --- a/src/ontology/iri_dependencies/oba_terms.txt +++ b/src/ontology/iri_dependencies/oba_terms.txt @@ -10096,3 +10096,4 @@ http://purl.obolibrary.org/obo/OBA_2050416 http://purl.obolibrary.org/obo/OBA_2050417 http://purl.obolibrary.org/obo/OBA_2050200 http://purl.obolibrary.org/obo/PR_000003015 +http://purl.obolibrary.org/obo/OBA_2040073 diff --git a/src/templates/subclasses.csv b/src/templates/subclasses.csv index a53e67b8..565fe754 100644 --- a/src/templates/subclasses.csv +++ b/src/templates/subclasses.csv @@ -4834,3 +4834,4 @@ OBA:2050351,EFO:0004324 OBA:2050352,GO:0009410 OBA:2050354,GO:0009410 NCIT:C25464,OBI:0000245 +OBA:2040073,GO:0009410