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all-do-bridge.obo
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[Term]
id: DOID:0050025 ! human granulocytic anaplasmosis
relationship: has_locus CL:0000094 ! granulocyte
! An ehrlichiosis that results_in infection located_in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted_by lone start tick (Amblyomma americanum ). The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue, has_symptom fever and has_symptom rash.
relationship: transmitted_by NCBITaxon:6943 ! Amblyomma americanum
is_a: DOID:10242 ! ehrlichiosis
relationship: has_symptom SYMP:0000487 ! rash
relationship: has_symptom SYMP:0000504 ! headache
relationship: has_symptom SYMP:0000613 ! fever
relationship: has_symptom SYMP:0019177 ! fatigue
relationship: has_phenotype MP:0002899 ! fatigue
relationship: has_phenotype HP:0001945 ! Fever
relationship: has_phenotype HP:0002315 ! Headache
relationship: has_material_basis SYMP:0000487 ! rash
relationship: has_material_basis SYMP:0000504 ! headache
relationship: has_material_basis SYMP:0000613 ! fever
relationship: has_material_basis SYMP:0019177 ! fatigue
relationship: has_material_basis NCBITaxon:948 ! Anaplasma phagocytophilum
[Term]
id: DOID:0050026 ! human monocytic ehrlichiosis
relationship: has_locus CL:0000235 ! macrophage
! An ehrlichiosis that results_in infection located_in monocyte or located_in macrophage, has_material_basis_in Ehrlichia chaffeensis, which is transmitted_by black-legged tick (Ixodes scapularis), transmitted_by western black-legged tick (Ixodes pacificus) or transmitted_by castor bean tick (Ixodes ricinus,). The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue, has_symptom fever and has_symptom rash.
relationship: transmitted_by NCBITaxon:29930 ! Ixodes pacificus
relationship: transmitted_by NCBITaxon:34613 ! Ixodes ricinus
relationship: transmitted_by NCBITaxon:6945 ! Ixodes scapularis
is_a: DOID:10242 ! ehrlichiosis
relationship: has_symptom SYMP:0000487 ! rash
relationship: has_symptom SYMP:0000504 ! headache
relationship: has_symptom SYMP:0000613 ! fever
relationship: has_symptom SYMP:0019177 ! fatigue
relationship: has_phenotype MP:0002899 ! fatigue
relationship: has_phenotype HP:0001945 ! Fever
relationship: has_phenotype HP:0002315 ! Headache
relationship: has_material_basis SYMP:0000487 ! rash
relationship: has_material_basis SYMP:0000504 ! headache
relationship: has_material_basis SYMP:0000613 ! fever
relationship: has_material_basis SYMP:0019177 ! fatigue
relationship: has_material_basis NCBITaxon:945 ! Ehrlichia chaffeensis
[Term]
id: DOID:0050026 ! human monocytic ehrlichiosis
relationship: has_locus CL:0000576 ! monocyte
! An ehrlichiosis that results_in infection located_in monocyte or located_in macrophage, has_material_basis_in Ehrlichia chaffeensis, which is transmitted_by black-legged tick (Ixodes scapularis), transmitted_by western black-legged tick (Ixodes pacificus) or transmitted_by castor bean tick (Ixodes ricinus,). The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue, has_symptom fever and has_symptom rash.
[Term]
id: DOID:0050120 ! hemophagocytic lymphohistiocytosis
relationship: has_locus CL:0000235 ! macrophage
! A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages.
is_a: DOID:75 ! lymphatic system disease
relationship: has_phenotype MP:0000702 ! enlarged lymph nodes
relationship: has_phenotype MP:0005152 ! pancytopenia
relationship: has_phenotype HP:0001433 ! Hepatosplenomegaly
relationship: has_phenotype HP:0001876 ! Pancytopenia
relationship: has_phenotype HP:0001945 ! Fever
relationship: has_phenotype HP:0002716 ! Lymphadenopathy
relationship: has_material_basis SYMP:0000047 ! hepatosplenomegaly
relationship: has_material_basis SYMP:0000521 ! enlargement of lymph nodes
relationship: has_material_basis SYMP:0000613 ! fever
relationship: has_material_basis SYMP:0019142 ! adenopathy
[Term]
id: DOID:0050141 ! intestinal botulism
relationship: has_locus CL:0000563 ! endospore
! A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) in adults, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins.
relationship: transmitted_by UBERON:0000160 ! intestine
is_a: DOID:11976 ! botulism
relationship: has_material_basis NCBITaxon:36826 ! Clostridium botulinum A
relationship: has_material_basis NCBITaxon:36827 ! Clostridium botulinum B
relationship: has_material_basis NCBITaxon:36830 ! Clostridium botulinum E
relationship: has_material_basis NCBITaxon:36831 ! Clostridium botulinum F
relationship: has_locus UBERON:0000160 ! intestine
[Term]
id: DOID:0050158 ! respiratory bronchiolitis-associated interstitial lung disease
relationship: has_locus CL:0000235 ! macrophage
! A idiopathic interstitial pneumonia which involves bronchiolocentric alveolar macrophage accumulation, mild bronchiolar fibrosis and chronic inflammation. Respiratory bronchiolitis is a histopathologic lesion found in cigarette smokers and is characterized by the presence of pigmented intralumenal macrophages within first- and second-order respiratory bronchioles.
is_a: DOID:2797 ! ideopathic interstitial pneumonia
is_a: DOID:2942 ! bronchiolitis
relationship: has_phenotype MP:0002499 ! chronic inflammation
relationship: has_phenotype MP:0003045 ! fibrosis
relationship: has_material_basis SYMP:0000232 ! bronchiolitis
relationship: has_locus UBERON:0002188 ! respiratory bronchiole
relationship: has_locus UBERON:0005385 ! nasal cavity respiratory epithelium
[Term]
id: DOID:0050158 ! respiratory bronchiolitis-associated interstitial lung disease
relationship: has_locus CL:0000583 ! alveolar macrophage
! A idiopathic interstitial pneumonia which involves bronchiolocentric alveolar macrophage accumulation, mild bronchiolar fibrosis and chronic inflammation. Respiratory bronchiolitis is a histopathologic lesion found in cigarette smokers and is characterized by the presence of pigmented intralumenal macrophages within first- and second-order respiratory bronchioles.
[Term]
id: DOID:0050160 ! inhalation anthrax
relationship: has_locus CL:0000522 ! spore
! An anthrax disease that results_in infection located_in lung lymph nodes brought on by breathing in the spores of the bacteria Bacillus anthracis. The first symptoms of inhalation anthrax are like cold or flu symptoms and can include a sore throat, mild fever and muscle aches. Later symptoms include cough, chest discomfort, shortness of breath, tiredness and muscle aches.
is_a: DOID:7427 ! anthrax disease
relationship: has_phenotype MP:0001954 ! respiratory distress
relationship: has_material_basis SYMP:0000187 ! tiredness
relationship: has_material_basis SYMP:0000505 ! throat pain
relationship: has_material_basis SYMP:0000614 ! cough
relationship: has_material_basis SYMP:0000881 ! mild fever
relationship: has_material_basis SYMP:0019153 ! dyspnea
relationship: has_locus UBERON:0002048 ! lung
[Term]
id: DOID:0050353 ! wound botulism
relationship: has_locus CL:0000522 ! spore
! A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted_by contact of spores with the open wounds, which then reproduce in an anaerobic environment to produce toxins.
relationship: transmitted_by TRANS:0000007 ! contact
is_a: DOID:11976 ! botulism
relationship: has_material_basis NCBITaxon:36826 ! Clostridium botulinum A
relationship: has_material_basis NCBITaxon:36827 ! Clostridium botulinum B
relationship: has_material_basis NCBITaxon:36830 ! Clostridium botulinum E
relationship: has_material_basis NCBITaxon:36831 ! Clostridium botulinum F
[Term]
id: DOID:0050354 ! infant botulism
relationship: has_locus CL:0000563 ! endospore
! A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA or B) in infants, has_material_basis_in Clostridium botulinum A or has_material_basis_in Clostridium botulinum B, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins. The infection has_symptom constipation, has_symptom lethargy, has_symptom difficulty feeding, has_symptom swallowing, has_symptom ptosis, has_symptom loss of head control, and has_symptom muscle weakness.
relationship: transmitted_by UBERON:0000160 ! intestine
is_a: DOID:11976 ! botulism
relationship: has_symptom SYMP:0000075 ! lethargy
relationship: has_symptom SYMP:0000094 ! muscle weakness
relationship: has_symptom SYMP:0000369 ! ptosis
relationship: has_symptom SYMP:0019180 ! constipation
relationship: has_phenotype MP:0000747 ! muscle weakness
relationship: has_phenotype MP:0001344 ! blepharoptosis
relationship: has_phenotype MP:0003267 ! constipation
relationship: has_phenotype MP:0005202 ! lethargy
relationship: has_phenotype HP:0000508 ! Ptosis
relationship: has_phenotype HP:0001254 ! Lethargy
relationship: has_phenotype HP:0001324 ! Muscle weakness
relationship: has_phenotype HP:0002019 ! Constipation
relationship: has_material_basis SYMP:0000075 ! lethargy
relationship: has_material_basis SYMP:0000094 ! muscle weakness
relationship: has_material_basis SYMP:0000369 ! ptosis
relationship: has_material_basis SYMP:0019180 ! constipation
relationship: has_material_basis NCBITaxon:36826 ! Clostridium botulinum A
relationship: has_material_basis NCBITaxon:36827 ! Clostridium botulinum B
relationship: has_locus UBERON:0000033 ! head
relationship: has_locus UBERON:0000160 ! intestine
[Term]
id: DOID:0050398 ! Carrion's Disease
relationship: has_locus CL:0000115 ! endothelial cell
! A primary bacterial infectious disease that results_in infection located_in endothelial cells or located_in red blood cells, has_material_basis_in Bartonella bacilliformis, which is transmitted_by sandflies of genus Lutzomyia. The infection has acute and chronic phases. The acute phase is characterized by severe hemolytic anemia and transient immunosuppression. The chronic phase is characterized by verruga peruana lesions which may ulcerate and bleed.
is_a: DOID:0050338 ! primary bacterial infectious disease
relationship: has_phenotype HP:0011009 ! Acute
relationship: has_phenotype HP:0011010 ! Chronic
relationship: has_material_basis NCBITaxon:774 ! Bartonella bacilliformis
[Term]
id: DOID:0050398 ! Carrion's Disease
relationship: has_locus CL:0000232 ! erythrocyte
! A primary bacterial infectious disease that results_in infection located_in endothelial cells or located_in red blood cells, has_material_basis_in Bartonella bacilliformis, which is transmitted_by sandflies of genus Lutzomyia. The infection has acute and chronic phases. The acute phase is characterized by severe hemolytic anemia and transient immunosuppression. The chronic phase is characterized by verruga peruana lesions which may ulcerate and bleed.
[Term]
id: DOID:0050513 ! spinal polio
relationship: has_locus CL:0000100 ! motor neuron
! A paralytic poliomyelitis that results_in destruction located_in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, and has_symptom paralysis of arms and legs.
relationship: transmitted_by UBERON:0001988 ! feces
relationship: transmitted_by TRANS:0000001 ! direct
is_a: DOID:0050515 ! paralytic poliomyelitis
relationship: has_symptom SYMP:0000030 ! paralysis
relationship: has_symptom SYMP:0019153 ! dyspnea
relationship: has_phenotype MP:0000753 ! paralysis
relationship: has_phenotype HP:0003470 ! Paralysis
relationship: has_material_basis SYMP:0000030 ! paralysis
relationship: has_material_basis SYMP:0019153 ! dyspnea
relationship: has_material_basis NCBITaxon:12080 ! Human poliovirus 1
relationship: has_material_basis NCBITaxon:12083 ! Human poliovirus 2
relationship: has_material_basis NCBITaxon:12086 ! Human poliovirus 3
relationship: has_locus UBERON:0000978 ! leg
relationship: has_locus UBERON:0001460 ! arm
relationship: has_locus UBERON:0003822 ! forelimb stylopod
relationship: has_locus UBERON:0003823 ! hindlimb zeugopod
relationship: has_locus UBERON:0005895 ! insect leg
relationship: has_locus UBERON:0002240 ! spinal cord
relationship: has_locus UBERON:0001988 ! feces
[Term]
id: DOID:0050514 ! bulbospinal polio
relationship: has_locus CL:0000100 ! motor neuron
! A paralytic poliomyelitis that results_in destruction located_in motor neurons of brainstem or located_in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, has_symptom difficulty swallowing, and has_symptom paralysis of arms and legs.
relationship: transmitted_by UBERON:0001988 ! feces
relationship: transmitted_by TRANS:0000001 ! direct
is_a: DOID:0050515 ! paralytic poliomyelitis
relationship: has_symptom SYMP:0000030 ! paralysis
relationship: has_symptom SYMP:0000493 ! dysphagia
relationship: has_symptom SYMP:0019153 ! dyspnea
relationship: has_phenotype MP:0000753 ! paralysis
relationship: has_phenotype HP:0003470 ! Paralysis
relationship: has_material_basis SYMP:0000030 ! paralysis
relationship: has_material_basis SYMP:0000493 ! dysphagia
relationship: has_material_basis SYMP:0019153 ! dyspnea
relationship: has_material_basis NCBITaxon:12080 ! Human poliovirus 1
relationship: has_material_basis NCBITaxon:12083 ! Human poliovirus 2
relationship: has_material_basis NCBITaxon:12086 ! Human poliovirus 3
relationship: has_locus UBERON:0000978 ! leg
relationship: has_locus UBERON:0001460 ! arm
relationship: has_locus UBERON:0003822 ! forelimb stylopod
relationship: has_locus UBERON:0003823 ! hindlimb zeugopod
relationship: has_locus UBERON:0005895 ! insect leg
relationship: has_locus UBERON:0002240 ! spinal cord
relationship: has_locus UBERON:0001988 ! feces
[Term]
id: DOID:0050515 ! paralytic poliomyelitis
relationship: has_locus CL:0000100 ! motor neuron
! A poliomyelitis that results_in destruction located_in motor neurons of central nervous system, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom loss of reflexes, has_symptom muscle spasms, and has_symptom acute flaccid paralysis.
relationship: transmitted_by UBERON:0001988 ! feces
relationship: transmitted_by TRANS:0000001 ! direct
is_a: DOID:4953 ! poliomyelitis
relationship: has_symptom SYMP:0000285 ! flaccid paralysis
relationship: has_phenotype MP:0000743 ! muscle spasm
relationship: has_phenotype HP:0011009 ! Acute
relationship: has_material_basis SYMP:0000285 ! flaccid paralysis
relationship: has_material_basis NCBITaxon:12080 ! Human poliovirus 1
relationship: has_material_basis NCBITaxon:12083 ! Human poliovirus 2
relationship: has_material_basis NCBITaxon:12086 ! Human poliovirus 3
relationship: has_locus UBERON:0000955 ! brain
relationship: has_locus UBERON:0001017 ! central nervous system
relationship: has_locus UBERON:0001988 ! feces
[Term]
id: DOID:0050523 ! adult T-cell leukemia
relationship: has_locus CL:0000084 ! T cell
! A T-cell leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions.
relationship: transmitted_by TRANS:0000007 ! contact
is_a: DOID:715 ! T-cell leukemia
relationship: has_phenotype MP:0001212 ! skin lesions
relationship: has_material_basis NCBITaxon:11908 ! Human T-lymphotropic virus 1
[Term]
id: DOID:0050523 ! adult T-cell leukemia
relationship: has_locus CL:0000542 ! lymphocyte
! A T-cell leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions.
[Term]
id: DOID:0050631 ! Allan-Herndon-Dudley syndrome
relationship: has_locus CL:0000540 ! neuron
! An X-linked disease that is caused by mutation in the gene encoding the monocarboxylate transporter-8 which alters the structure and function of the SLC16A2 protein which is then unable to transport the thyroid triiodothyronine (T3) hormone into nerve cells of the developing brain affecting normal brain development resulting in intellectual disability and problems with movement.
is_a: DOID:4 ! disease
relationship: has_phenotype HP:0001249 ! Intellectual disability
relationship: has_phenotype HP:0001417 ! X-linked inheritance
relationship: has_locus UBERON:0000955 ! brain
relationship: has_locus UBERON:0002046 ! thyroid gland
[Term]
id: DOID:0050729 ! neutral lipid storage disease
relationship: has_locus CL:0000057 ! fibroblast
! A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues.
is_a: DOID:9455 ! lipid storage disease
relationship: has_locus UBERON:0000383 ! musculature of body
relationship: has_locus UBERON:0000479 ! tissue
relationship: has_locus UBERON:0001015 ! musculature
relationship: has_locus UBERON:0001630 ! muscle organ
relationship: has_locus UBERON:0002107 ! liver
[Term]
id: DOID:0050729 ! neutral lipid storage disease
relationship: has_locus CL:0000738 ! leukocyte
! A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues.
[Term]
id: DOID:0050747 ! lymphoplasmacytic lymphoma
relationship: has_locus CL:0000236 ! B cell
! A B-cell lymphocytic neoplasm characterized by an uncontrolled increase of B-cells.
is_a: DOID:707 ! B-cell lymphocytic neoplasm
[Term]
id: DOID:0050750 ! splenic marginal zone lymphoma
relationship: has_locus CL:0000236 ! B cell
! A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp.
relationship: has_locus UBERON:0004879 ! marginal zone of embryo
relationship: has_locus UBERON:0001959 ! white pulp of spleen
[Term]
id: DOID:0050750 ! splenic marginal zone lymphoma
relationship: has_locus CL:0000542 ! lymphocyte
! A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp.
[Term]
id: DOID:0050750 ! splenic marginal zone lymphoma
relationship: has_locus CL:0000236 ! B cell
! A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp.
[Term]
id: DOID:0060013 ! gamma chain deficiency
relationship: has_locus CL:0000236 ! B cell
! A severe combined immunodeficiency that is a X-linked SCID caused by mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells.
is_a: DOID:627 ! severe combined immunodeficiency
relationship: has_phenotype MP:0002536 ! severe combined immunodeficiency disease
relationship: has_phenotype HP:0001417 ! X-linked inheritance
relationship: has_phenotype HP:0004430 ! Severe combined immunodeficiency
[Term]
id: DOID:0060013 ! gamma chain deficiency
relationship: has_locus CL:0000623 ! natural killer cell
! A severe combined immunodeficiency that is a X-linked SCID caused by mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells.
[Term]
id: DOID:0060016 ! CD3delta deficiency
relationship: has_locus CL:0000084 ! T cell
! A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development.
is_a: DOID:627 ! severe combined immunodeficiency
relationship: has_phenotype HP:0004430 ! Severe combined immunodeficiency
[Term]
id: DOID:0060016 ! CD3delta deficiency
relationship: has_locus CL:0000236 ! B cell
! A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development.
[Term]
id: DOID:0060017 ! CD3epsilon deficiency
relationship: has_locus CL:0000084 ! T cell
! A severe combined immunodeficiency that is an autosomal recessive immunodeficiency caused by mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex.
is_a: DOID:627 ! severe combined immunodeficiency
relationship: has_phenotype MP:0001791 ! immunodeficiency
relationship: has_phenotype HP:0000007 ! Autosomal recessive inheritance
relationship: has_phenotype HP:0002721 ! Immunodeficiency
relationship: has_phenotype HP:0004430 ! Severe combined immunodeficiency
[Term]
id: DOID:0060018 ! CD3gamma deficiency
relationship: has_locus CL:0000084 ! T cell
! A severe combined immunodeficiency an autosomal recessive immunodeficiency caused by mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected.
is_a: DOID:627 ! severe combined immunodeficiency
relationship: has_phenotype MP:0001791 ! immunodeficiency
relationship: has_phenotype HP:0000007 ! Autosomal recessive inheritance
relationship: has_phenotype HP:0002721 ! Immunodeficiency
relationship: has_phenotype HP:0004430 ! Severe combined immunodeficiency
[Term]
id: DOID:0060018 ! CD3gamma deficiency
relationship: has_locus CL:0000236 ! B cell
! A severe combined immunodeficiency an autosomal recessive immunodeficiency caused by mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected.
[Term]
id: DOID:0060022 ! CD40 ligand deficiency
relationship: has_locus CL:0000084 ! T cell
! A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE.
is_a: DOID:628 ! combined T cell and B cell immunodeficiency
relationship: has_phenotype MP:0001791 ! immunodeficiency
relationship: has_phenotype HP:0001417 ! X-linked inheritance
relationship: has_phenotype HP:0002721 ! Immunodeficiency
[Term]
id: DOID:0060023 ! CD40 deficiency
relationship: has_locus CL:0000236 ! B cell
! A combined T cell and B cell immunodeficiency that is caused by mutation in TNFRSF5 resulting in type 3 hyper-IgM immunodeficiency characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation.
is_a: DOID:628 ! combined T cell and B cell immunodeficiency
[Term]
id: DOID:0060027 ! B cell linker protein deficiency
relationship: has_locus CL:0000236 ! B cell
! A hypobammaglobulinemia that is a B cell deficiency caused by a mutation a cytoplasmic linker or adaptor protein that plays a critical role in B cell development, the B cell linker protein (BLNK) gene. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. The BLNK gene is associated with intracellular calcium mobilization, essential for cell activation.
is_a: DOID:2115 ! B cell deficiency
relationship: has_phenotype MP:0002539 ! B cell deficiency
[Term]
id: DOID:0060061 ! cutaneous T cell lymphoma
relationship: has_locus CL:0000084 ! T cell
! A non-Hodgkin's lymphoma that is caused by a mutation of T cells.
[Term]
id: DOID:0070003 ! blastoma
relationship: has_locus CL:0000055 ! non-terminally differentiated cell
! A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from precursor cells called blast cells.
is_a: DOID:0050687 ! cell type cancer
relationship: has_material_basis GO:0005623 ! cell
relationship: has_material_basis CL:0000000 ! cell
[Term]
id: DOID:0070003 ! blastoma
relationship: has_locus CL:0000000 ! cell
! A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from precursor cells called blast cells.
[Term]
id: DOID:10027 ! tabes dorsalis
relationship: has_locus CL:0000540 ! neuron
! A tertiary neurosyphilis that results_in slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The infection has_symptom intense, stabbing pain in the back and legs that recurs irregularly, has_symptom gait ataxia, has_symptom hyperesthesia, has_symptom paresthesia, has_symptom loss of bladder sensation leading to urine retention, has_symptom erectile dysfunction.
is_a: DOID:9988 ! tertiary neurosyphilis
relationship: has_symptom SYMP:0000300 ! hyperesthesia
relationship: has_symptom SYMP:0000427 ! impotence
relationship: has_symptom SYMP:0000435 ! paresthesia
relationship: has_phenotype HP:0000802 ! Impotence
relationship: has_phenotype HP:0002066 ! Gait ataxia
relationship: has_phenotype HP:0003401 ! Paresthesia
relationship: has_phenotype HP:0100963 ! Hyperaesthesia
relationship: has_material_basis SYMP:0000300 ! hyperesthesia
relationship: has_material_basis SYMP:0000427 ! impotence
relationship: has_material_basis SYMP:0000435 ! paresthesia
relationship: has_locus UBERON:0000978 ! leg
relationship: has_locus UBERON:0001137 ! dorsum
relationship: has_locus UBERON:0003823 ! hindlimb zeugopod
relationship: has_locus UBERON:0005895 ! insect leg
relationship: has_locus UBERON:0000955 ! brain
[Term]
id: DOID:10242 ! ehrlichiosis
relationship: has_locus CL:0000738 ! leukocyte
! A primary bacterial infectious disease that results_in infection located_in leukocyte, has_material_basis_in Ehrlichia chaffeensis or Anaplasma phagocytophilum, which are transmitted_by lone start stick and transmitted_by black-legged tick respectively. The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue and has_symptom rash.
is_a: DOID:0050338 ! primary bacterial infectious disease
relationship: has_symptom SYMP:0000487 ! rash
relationship: has_symptom SYMP:0000504 ! headache
relationship: has_symptom SYMP:0019177 ! fatigue
relationship: has_phenotype MP:0002899 ! fatigue
relationship: has_phenotype HP:0002315 ! Headache
relationship: has_material_basis SYMP:0000487 ! rash
relationship: has_material_basis SYMP:0000504 ! headache
relationship: has_material_basis SYMP:0019177 ! fatigue
relationship: has_material_basis NCBITaxon:945 ! Ehrlichia chaffeensis
relationship: has_material_basis NCBITaxon:948 ! Anaplasma phagocytophilum
[Term]
id: DOID:10247 ! pleurisy
relationship: has_locus CL:0000263 ! vegetative cell (sensu Mycetozoa)
! A lower respiratory infectious disease involving inflammation of the pleura, the lining of the pleural cavity surrounding the lungs. Major causes of pleurisy include cancer, drug reactions, infection with parasites such as amoeba or flukes, injury such as a rib fracture or bruise, irritants that reach the pleura from the airways such as asbestos, lung infarction caused by pulmonary embolism, pancreatitis, pneumonia, rheumatoid arthritis, systemic lupus erythematosus, tuberculosis and viral pleuritis. The inflamed pleural layers rub against each other every time the lungs expand to breathe in air. This can cause sharp pain with breathing (also called pleuritic chest pain).
is_a: DOID:0050117 ! disease by infectious agent
is_a: DOID:10247 ! pleurisy
is_a: DOID:162 ! cancer
relationship: has_phenotype MP:0001799 ! Viral
relationship: has_phenotype MP:0001861 ! lung inflammation
relationship: has_phenotype MP:0001869 ! pancreas inflammation
relationship: has_phenotype MP:0003561 ! rheumatoid arthritis
relationship: has_phenotype MP:0001845 ! abnormal inflammatory response
relationship: has_phenotype MP:0009275 ! bruising
relationship: has_phenotype HP:0001370 ! Rheumatoid arthritis
relationship: has_phenotype HP:0001733 ! Pancreatitis
relationship: has_phenotype HP:0002090 ! Pneumonia
relationship: has_phenotype HP:0002102 ! Pleuritis
relationship: has_phenotype HP:0002204 ! Pulmonary embolism
relationship: has_phenotype HP:0002725 ! Systemic lupus erythematosus
relationship: has_material_basis SYMP:0000430 ! pleuritic chest pain
relationship: has_material_basis SYMP:0019168 ! pneumonia
relationship: has_material_basis SYMP:0000061 ! inflammation
relationship: has_material_basis SYMP:0000406 ! bruise
relationship: has_locus UBERON:0002048 ! lung
relationship: has_locus UBERON:0000977 ! pleura
relationship: has_locus UBERON:0001713 ! lower eyelid
relationship: has_locus UBERON:0002402 ! pleural cavity
relationship: has_locus UBERON:0005385 ! nasal cavity respiratory epithelium
[Term]
id: DOID:10652 ! Alzheimer's disease
relationship: has_locus CL:0000540 ! neuron
! A dementia that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. It is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability.
is_a: DOID:1307 ! dementia
relationship: has_phenotype MP:0003214 ! neurofibrillary tangles
relationship: has_phenotype HP:0000712 ! Emotional lability
relationship: has_phenotype HP:0001289 ! Confusion
relationship: has_phenotype HP:0000726 ! Dementia
relationship: has_phenotype HP:0002185 ! Neurofibrillary tangles
relationship: has_phenotype HP:0002354 ! Memory impairment
relationship: has_material_basis SYMP:0000016 ! confusion
relationship: has_material_basis SYMP:0000023 ! disorientation
relationship: has_material_basis SYMP:0000543 ! memory loss
relationship: has_locus UBERON:0000955 ! brain
relationship: has_locus UBERON:0000956 ! cerebral cortex
relationship: has_locus UBERON:0001851 ! cortex
[Term]
id: DOID:11104 ! spotted fever
relationship: has_locus CL:0002543 ! vein endothelial cell
! A primary bacterial infectious disease that results_in infection, located_in endothelial cell of artery or located_in endothelial cell of vein, has_material_basis_in Rickettsia, which is transmitted_by ticks and mites. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom muscle aches, and has_symptom maculopapular or petechial rash. A distinctive eschar (blackened or crusted skin) may develop at the site of a tick bite.
is_a: DOID:0050338 ! primary bacterial infectious disease
relationship: has_symptom SYMP:0000504 ! headache
relationship: has_symptom SYMP:0000613 ! fever
relationship: has_symptom SYMP:0000760 ! petechiae
relationship: has_symptom SYMP:0019158 ! eschar
relationship: has_symptom SYMP:0019177 ! fatigue
relationship: has_phenotype MP:0002899 ! fatigue
relationship: has_phenotype HP:0001945 ! Fever
relationship: has_phenotype HP:0002315 ! Headache
relationship: has_material_basis SYMP:0000504 ! headache
relationship: has_material_basis SYMP:0000613 ! fever
relationship: has_material_basis SYMP:0000760 ! petechiae
relationship: has_material_basis SYMP:0019158 ! eschar
relationship: has_material_basis SYMP:0019177 ! fatigue
relationship: has_material_basis NCBITaxon:780 ! Rickettsia
[Term]
id: DOID:11104 ! spotted fever
relationship: has_locus CL:1000413 ! endothelial cell of artery
! A primary bacterial infectious disease that results_in infection, located_in endothelial cell of artery or located_in endothelial cell of vein, has_material_basis_in Rickettsia, which is transmitted_by ticks and mites. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom muscle aches, and has_symptom maculopapular or petechial rash. A distinctive eschar (blackened or crusted skin) may develop at the site of a tick bite.
[Term]
id: DOID:1115 ! sarcoma
relationship: has_locus CL:0000000 ! cell
! A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from embryonic mesoderm.
is_a: DOID:0050687 ! cell type cancer
relationship: has_material_basis GO:0005623 ! cell
relationship: has_material_basis CL:0000000 ! cell
relationship: has_locus UBERON:0000926 ! mesoderm
[Term]
id: DOID:1116 ! pertussis
relationship: has_locus CL:0002368 ! respiratory epithelial cell
! A commensal bacterial infectious disease that results_in inflammation located_in respiratory tract, has_material_basis_in Bordetella pertussis, or has_material_basis_in Bordetella parapertussis, which produce toxins that paralyze the cilia of the respiratory epithelial cells. The infection is characterized by a prolonged, high-pitched, deeply indrawn breath (whoop).
is_a: DOID:0050339 ! commensal bacterial infectious disease
relationship: has_phenotype MP:0001845 ! abnormal inflammatory response
relationship: has_material_basis UBERON:0010168 ! collection of eyelashes
relationship: has_material_basis SYMP:0000061 ! inflammation
relationship: has_material_basis NCBITaxon:519 ! Bordetella parapertussis
relationship: has_material_basis NCBITaxon:520 ! Bordetella pertussis
relationship: has_material_basis CL:0002368 ! respiratory epithelial cell
relationship: has_locus UBERON:0010168 ! collection of eyelashes
relationship: has_locus UBERON:0000065 ! respiratory tract
relationship: has_locus UBERON:0000072 ! segment of respiratory tract
relationship: has_locus UBERON:0001004 ! respiratory system
[Term]
id: DOID:11256 ! typhus
relationship: has_locus CL:0000115 ! endothelial cell
! A primary bacterial infectious disease that refers to a group of diseases, located_in endothelial cells of the small venous, arterial, and capillary vessels, has_material_basis_in Rickettsia bacteria, which are transmitted_by lice, transmitted_by fleas, and transmitted_by mites.
is_a: DOID:0050338 ! primary bacterial infectious disease
relationship: has_material_basis NCBITaxon:2 ! Bacteria
relationship: has_material_basis NCBITaxon:780 ! Rickettsia
relationship: has_locus UBERON:0001982 ! capillary
[Term]
id: DOID:11315 ! African histoplasmosis
relationship: has_locus CL:0000522 ! spore
! A histoplasmosis that results_in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of nodules, results_in_formation_of ulcers and results_in_formation_of osteolytic bone lesions.
relationship: transmitted_by TRANS:0000009 ! airborne
is_a: DOID:1731 ! histoplasmosis
relationship: has_material_basis SYMP:0019166 ! ulcerations
relationship: has_locus UBERON:0001474 ! bone
[Term]
id: DOID:12177 ! common variable immunodeficiency
relationship: has_locus CL:0000000 ! cell
! A hypogammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells. Patients with common variable immunodeficiency have marked reduction in serum levels of both immunoglobulin G (IgG) and immunoglobulin A (IgA); about half of these patients also have reduced immunoglobulin M (IgM).
is_a: DOID:2583 ! agammaglobulinemia
relationship: has_phenotype MP:0001805 ! decreased IgG level
relationship: has_phenotype HP:0004313 ! Hypogammaglobulinemia
relationship: has_locus UBERON:0001977 ! serum
[Term]
id: DOID:12177 ! common variable immunodeficiency
relationship: has_locus CL:0000236 ! B cell
! A hypogammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells. Patients with common variable immunodeficiency have marked reduction in serum levels of both immunoglobulin G (IgG) and immunoglobulin A (IgA); about half of these patients also have reduced immunoglobulin M (IgM).
[Term]
id: DOID:12297 ! Vogt-Koyanagi-Harada disease
relationship: has_locus CL:0000148 ! melanocyte
! An autoimmune disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis.
is_a: DOID:417 ! hypersensitivity reaction type II disease
relationship: has_phenotype MP:0001845 ! abnormal inflammatory response
relationship: has_phenotype HP:0001287 ! Meningitis
relationship: has_phenotype HP:0002960 ! Autoimmunity
relationship: has_material_basis SYMP:0000061 ! inflammation
relationship: has_material_basis SYMP:0019173 ! meningitis
relationship: has_locus UBERON:0000018 ! compound eye
relationship: has_locus UBERON:0000019 ! camera-type eye
relationship: has_locus UBERON:0001037 ! strand of hair
relationship: has_locus UBERON:0002360 ! meninx
[Term]
id: DOID:12365 ! malaria
relationship: has_locus CL:0000232 ! erythrocyte
! A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle.
is_a: DOID:2789 ! parasitic protozoa infectious disease
relationship: has_locus UBERON:0000178 ! blood
[Term]
id: DOID:12365 ! malaria
relationship: has_locus CL:0000081 ! blood cell
! A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle.
[Term]
id: DOID:12377 ! spinal muscular atrophy
relationship: has_locus CL:0000100 ! motor neuron
! A motor neuron disease that is_a degenerative neuromuscular disease characterized by motor neuron degeration.
is_a: DOID:231 ! motor neuron disease
[Term]
id: DOID:1240 ! leukemia
relationship: has_locus CL:0000081 ! blood cell
! A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.
relationship: has_locus UBERON:0000178 ! blood
relationship: has_locus UBERON:0002371 ! bone marrow
[Term]
id: DOID:12663 ! blastomycosis
relationship: has_locus CL:0000522 ! spore
! A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening.
relationship: transmitted_by TRANS:0000009 ! airborne
is_a: DOID:0050292 ! primary systemic mycosis
relationship: has_phenotype MP:0001212 ! skin lesions
relationship: has_locus UBERON:0002048 ! lung
[Term]
id: DOID:12965 ! subleukemic leukemia
relationship: has_locus CL:0000738 ! leukocyte
! A leukemia that is characterized by the presence of abnormal white blood cells located_in peripheral blood, but in which the total number of white blood cells is normal.
is_a: DOID:1240 ! leukemia
relationship: has_phenotype MP:0002026 ! leukemia
relationship: has_phenotype HP:0001909 ! Leukemia
relationship: has_locus UBERON:0000178 ! blood
[Term]
id: DOID:13166 ! allergic bronchopulmonary aspergillosis
relationship: has_locus CL:0000522 ! spore
! An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has_symptom cough, has_symptom wheezing and has_symptom fever.
is_a: DOID:13564 ! aspergillosis
relationship: has_symptom SYMP:0000604 ! wheezing
relationship: has_symptom SYMP:0000613 ! fever
relationship: has_symptom SYMP:0000614 ! cough
relationship: has_phenotype MP:0001845 ! abnormal inflammatory response
relationship: has_phenotype HP:0001945 ! Fever
relationship: has_material_basis SYMP:0000061 ! inflammation
relationship: has_material_basis SYMP:0000604 ! wheezing
relationship: has_material_basis SYMP:0000613 ! fever
relationship: has_material_basis SYMP:0000614 ! cough
relationship: has_locus UBERON:0000912 ! mucus
[Term]
id: DOID:13450 ! coccidioidomycosis
relationship: has_locus CL:0000522 ! spore
! A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom conjunctivitis, has_symptom arthritis, has_symptom chest pain and results_in_formation_of skin nodules.
relationship: transmitted_by TRANS:0000009 ! airborne
is_a: DOID:0050292 ! primary systemic mycosis
relationship: has_symptom SYMP:0000128 ! conjunctivitis
relationship: has_symptom SYMP:0000576 ! chest pain
relationship: has_symptom SYMP:0019169 ! arthritis
relationship: has_phenotype MP:0001852 ! conjunctivitis
relationship: has_phenotype MP:0002993 ! arthritis
relationship: has_phenotype HP:0000509 ! Conjunctivitis
relationship: has_phenotype HP:0001369 ! Arthritis
relationship: has_phenotype HP:0100749 ! Chest pain
relationship: has_material_basis SYMP:0000128 ! conjunctivitis
relationship: has_material_basis SYMP:0000576 ! chest pain
relationship: has_material_basis SYMP:0019169 ! arthritis
relationship: has_material_basis NCBITaxon:5501 ! Coccidioides immitis
[Term]
id: DOID:14068 ! blackwater fever
relationship: has_locus CL:0000232 ! erythrocyte
! A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax.
is_a: DOID:12365 ! malaria
relationship: has_phenotype MP:0003606 ! kidney failure
[Term]
id: DOID:14179 ! Bruton-type agammaglobulinemia
relationship: has_locus CL:0000785 ! mature B cell
! A B cell deficiency that is caused by a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement.
is_a: DOID:2115 ! B cell deficiency
relationship: has_phenotype MP:0001791 ! immunodeficiency
relationship: has_phenotype MP:0002539 ! B cell deficiency
relationship: has_phenotype HP:0002721 ! Immunodeficiency
[Term]
id: DOID:14422 ! dipetalonemiasis
relationship: has_locus CL:0000771 ! eosinophil
! A filariasis that is a zoonotic infection caused by the nematode of the genus Dipetalonema, which is transmitted accidentally to humans from porcupines, beavers and other mammals by mosquitoes. The adult worms live subcutaneously or in body cavities or in the eyes of humans. Dead worms cause hypersensitivity necrosis with eosinophils, followed by granulomatous reaction and fibrosis.
is_a: DOID:1080 ! filariasis
relationship: has_phenotype MP:0001651 ! necrosis
relationship: has_phenotype MP:0003045 ! fibrosis
relationship: has_material_basis SYMP:0000132 ! necrosis
relationship: has_locus UBERON:0000066 ! fully formed stage
relationship: has_locus UBERON:0000113 ! post-juvenile adult stage
relationship: has_locus UBERON:0002553 ! anatomical cavity
relationship: has_locus UBERON:0007023 ! adult organism
[Term]
id: DOID:14453 ! farmer's lung
relationship: has_locus CL:0000522 ! spore
! An extrinsic allergic alveolitis which is induced by the inhalation of spores (Aspergillus sp and thermophilic actinomycetes) in dust from moldy hay or straw. It is characterized by sudden onset, fever, cough, expectoration, and breathlessness.
is_a: DOID:841 ! extrinsic allergic alveolitis
relationship: has_phenotype HP:0001945 ! Fever
relationship: has_material_basis SYMP:0000613 ! fever
relationship: has_material_basis SYMP:0000614 ! cough
relationship: has_material_basis SYMP:0019153 ! dyspnea
[Term]
id: DOID:154 ! mixed cell type cancer
relationship: has_locus CL:0000000 ! cell
! A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from two germinal layers of tissue.
is_a: DOID:0050687 ! cell type cancer
relationship: has_material_basis GO:0005623 ! cell
relationship: has_material_basis CL:0000000 ! cell
relationship: has_locus UBERON:0000479 ! tissue
[Term]
id: DOID:1562 ! chromoblastomycosis
relationship: has_locus CL:0000000 ! cell
! A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection.
is_a: DOID:0050135 ! subcutaneous mycosis
relationship: has_phenotype MP:0001212 ! skin lesions
relationship: has_phenotype HP:0011010 ! Chronic
relationship: has_locus UBERON:0000014 ! zone of skin
relationship: has_locus UBERON:0002097 ! skin of body
relationship: has_locus UBERON:0002199 ! integument
[Term]
id: DOID:1642 ! breast adenomyoepithelioma
relationship: has_locus CL:0000185 ! myoepithelial cell
! A breast myoepithelial neoplasm that affects the breast and is characterized by biphasic proliferation of both epithelial and myoepithelial cells.
is_a: DOID:3004 ! breast myoepithelial neoplasm
relationship: has_locus UBERON:0000310 ! breast
[Term]
id: DOID:1731 ! histoplasmosis
relationship: has_locus CL:0000522 ! spore
! A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum or has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains.
relationship: transmitted_by TRANS:0000009 ! airborne
is_a: DOID:0050292 ! primary systemic mycosis
relationship: has_symptom SYMP:0000309 ! loss of appetite
relationship: has_symptom SYMP:0000504 ! headache
relationship: has_symptom SYMP:0000614 ! cough
relationship: has_phenotype HP:0002315 ! Headache
relationship: has_material_basis SYMP:0000309 ! loss of appetite
relationship: has_material_basis SYMP:0000504 ! headache
relationship: has_material_basis SYMP:0000614 ! cough
[Term]
id: DOID:1749 ! squamous cell carcinoma
relationship: has_locus CL:0000076 ! squamous epithelial cell
! A carcinoma that derives_from squamous epithelial cells.
is_a: DOID:305 ! carcinoma
relationship: has_phenotype MP:0002038 ! carcinoma
[Term]
id: DOID:1759 ! American histoplasmosis
relationship: has_locus CL:0000522 ! spore
! A histoplasmosis that results_in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains.
relationship: transmitted_by TRANS:0000009 ! airborne
is_a: DOID:1731 ! histoplasmosis
relationship: has_symptom SYMP:0000309 ! loss of appetite
relationship: has_symptom SYMP:0000504 ! headache
relationship: has_symptom SYMP:0000614 ! cough
relationship: has_phenotype HP:0002315 ! Headache
relationship: has_material_basis SYMP:0000309 ! loss of appetite
relationship: has_material_basis SYMP:0000504 ! headache
relationship: has_material_basis SYMP:0000614 ! cough
[Term]
id: DOID:1800 ! neuroendocrine carcinoma
relationship: has_locus CL:0000165 ! neuroendocrine cell
! A carcinoma that derives_from neuroendocrine cells.
is_a: DOID:305 ! carcinoma
relationship: has_phenotype MP:0002038 ! carcinoma
[Term]
id: DOID:1909 ! melanoma
relationship: has_locus CL:0000148 ! melanocyte
! A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from melanocytes which are found in skin, the bowel and the eye.
is_a: DOID:0050687 ! cell type cancer
relationship: has_material_basis GO:0005623 ! cell
relationship: has_material_basis CL:0000000 ! cell
relationship: has_locus UBERON:0000014 ! zone of skin
relationship: has_locus UBERON:0000018 ! compound eye
relationship: has_locus UBERON:0000019 ! camera-type eye
relationship: has_locus UBERON:0000160 ! intestine
relationship: has_locus UBERON:0002097 ! skin of body
relationship: has_locus UBERON:0002199 ! integument
[Term]
id: DOID:1909 ! melanoma
relationship: has_locus CL:0000000 ! cell
! A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from melanocytes which are found in skin, the bowel and the eye.
[Term]
id: DOID:2058 ! chronic mucocutaneous candidiasis
relationship: has_locus CL:0000084 ! T cell
! A candidiasis that refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial fungal infections located_in skin, located_in mucous membrane, or located_in nail due to T-cell defects, has-agent Candida species and has_symptom scaling of skin lesions, has_symptom thickening of nails, has_symptom swollen periungal tissue, and has_symptom scarring of the scalp.
is_a: DOID:1508 ! candidiasis
relationship: has_phenotype MP:0001212 ! skin lesions
relationship: has_phenotype HP:0001425 ! Heterogeneous
relationship: has_phenotype HP:0100699 ! Scarring
relationship: has_locus UBERON:0000403 ! scalp
relationship: has_locus UBERON:0000479 ! tissue
relationship: has_locus UBERON:0001705 ! nail
relationship: has_locus UBERON:0000014 ! zone of skin
relationship: has_locus UBERON:0000344 ! mucosa
relationship: has_locus UBERON:0002097 ! skin of body
relationship: has_locus UBERON:0002199 ! integument
[Term]
id: DOID:2115 ! B cell deficiency
relationship: has_locus CL:0000236 ! B cell
! A primary immunnodeficiency disease that is caused by a lack of infection-fighting antibody producing B cells (immunoglobulins) or B cells that are not functioning properly.
[Term]
id: DOID:2224 ! hemorrhagic thrombocythemia
relationship: has_locus CL:0000233 ! platelet
! A chronic myeloproliferative and megakaryocytic tumor and thrombocytosis that is a rare chronic disorder that results_in the overproduction of platelets.
is_a: DOID:2225 ! megakaryocytic tumor
is_a: DOID:2228 ! thrombocytosis
relationship: has_phenotype MP:0005505 ! increased platelet cell number
relationship: has_phenotype HP:0001894 ! Thrombocytosis
relationship: has_phenotype HP:0011010 ! Chronic
[Term]
id: DOID:2226 ! chronic myeloproliferative disease
relationship: has_locus CL:0000233 ! platelet
! A myeloma that is characterized by a group of slow growing blood cancers in which large numbers of abnormal red blood cells, white blood cells, or platelets grow and spread in the bone marrow and the peripheral blood.
is_a: DOID:0070004 ! myeloma
relationship: has_phenotype MP:0009440 ! myeloma
relationship: has_locus UBERON:0000178 ! blood
relationship: has_locus UBERON:0002371 ! bone marrow
[Term]
id: DOID:2226 ! chronic myeloproliferative disease
relationship: has_locus CL:0000738 ! leukocyte
! A myeloma that is characterized by a group of slow growing blood cancers in which large numbers of abnormal red blood cells, white blood cells, or platelets grow and spread in the bone marrow and the peripheral blood.
[Term]
id: DOID:2314 ! malt worker's lung
relationship: has_locus CL:0002369 ! fungal spore
! An extrinsic allergic alveolitis which is caused by inhalation of fungal spores of Aspergillus clavatus and Aspergillus fumigatus from moldy barley.
is_a: DOID:841 ! extrinsic allergic alveolitis
[Term]
id: DOID:2554 ! Letterer-Siwe disease
relationship: has_locus CL:0000738 ! leukocyte
! A Langerhans-cell histiocytosis malignant neoplasm of abdomen that results_in an abnormal increase in the number of immune cells called histiocytes.
is_a: DOID:2571 ! Langerhans-cell histiocytosis
is_a: DOID:284 ! malignant neoplasm of abdomen
[Term]
id: DOID:2571 ! Langerhans-cell histiocytosis
relationship: has_locus CL:0000453 ! Langerhans cell
! A disease of metabolism and histiocytic and dendritic cell cancer and histiocytosis and interstitial lung disease that results_in the proliferation of Langerhans cells.
is_a: DOID:0014667 ! disease of metabolism
is_a: DOID:3082 ! interstitial lung disease
is_a: DOID:3405 ! histiocytosis
is_a: DOID:5621 ! histiocytic and dendritic cell cancer
relationship: has_phenotype HP:0006530 ! Interstitial pulmonary disease
[Term]
id: DOID:2571 ! Langerhans-cell histiocytosis
relationship: has_locus DC_CL:0000021 ! Langerhans cell
! A disease of metabolism and histiocytic and dendritic cell cancer and histiocytosis and interstitial lung disease that results_in the proliferation of Langerhans cells.
[Term]
id: DOID:2632 ! papillary serous adenocarcinoma
relationship: has_locus CL:0000066 ! epithelial cell
! A papillary adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures with psammoma bodies.
is_a: DOID:3112 ! papillary adenocarcinoma
relationship: has_locus UBERON:0000479 ! tissue
[Term]
id: DOID:2661 ! myoepithelioma
relationship: has_locus CL:0000185 ! myoepithelial cell
! A carcinoma that is composed_of outgrowths of myoepithelial cells from a sweat gland.
is_a: DOID:305 ! carcinoma
relationship: has_phenotype MP:0002038 ! carcinoma
relationship: has_locus UBERON:0001820 ! sweat gland
[Term]
id: DOID:2671 ! transitional cell carcinoma
relationship: has_locus CL:0000244 ! transitional epithelial cell
! A carcinoma that derives_from transitional epithelial cells.
is_a: DOID:305 ! carcinoma
relationship: has_phenotype MP:0002038 ! carcinoma
[Term]
id: DOID:2708 ! mushroom workers' lung
relationship: has_locus CL:0000522 ! spore
! An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes.
is_a: DOID:841 ! extrinsic allergic alveolitis
relationship: has_phenotype MP:0001845 ! abnormal inflammatory response
relationship: has_material_basis SYMP:0000061 ! inflammation
relationship: has_locus UBERON:0002048 ! lung
relationship: has_locus UBERON:0003215 ! alveolus
[Term]
id: DOID:2752 ! glycogen storage disease II
relationship: has_locus CL:0000540 ! neuron
! A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.
is_a: DOID:2747 ! glycogen storage disease
relationship: has_material_basis UBERON:0000383 ! musculature of body
relationship: has_material_basis UBERON:0001015 ! musculature
relationship: has_material_basis UBERON:0001630 ! muscle organ
relationship: has_material_basis GO:0005764 ! lysosome
relationship: has_material_basis CL:0000540 ! neuron
relationship: has_locus UBERON:0000383 ! musculature of body
relationship: has_locus UBERON:0001015 ! musculature
relationship: has_locus UBERON:0001630 ! muscle organ
[Term]
id: DOID:2929 ! Newcastle disease
relationship: has_locus CL:0000025 ! egg
! A viral infectious disease that results_in infection in birds and humans, has_material_basis_in Newcastle disease virus, which is transmitted_by contact with feces and urine of an infected bird, or transmitted_by fomites. The infection has_symptom conjunctivitis, has_symptom headache, and has_symptom lacrimation in humans, and has_symptom gasping, has_symptom coughing, has_symptom twisting of head and neck, has_symptom circling, has_symptom complete paralysis, has_symptom watery diarrhea, and has_symptom reduced egg production in birds.
relationship: transmitted_by UBERON:0001088 ! urine
relationship: transmitted_by UBERON:0001988 ! feces
is_a: DOID:934 ! viral infectious disease
relationship: has_symptom SYMP:0000030 ! paralysis
relationship: has_symptom SYMP:0000128 ! conjunctivitis
relationship: has_symptom SYMP:0000175 ! watery diarrhea
relationship: has_symptom SYMP:0000504 ! headache
relationship: has_phenotype MP:0000753 ! paralysis
relationship: has_phenotype MP:0001394 ! circling
relationship: has_phenotype MP:0001852 ! conjunctivitis
relationship: has_phenotype MP:0001954 ! respiratory distress
relationship: has_phenotype HP:0000509 ! Conjunctivitis
relationship: has_phenotype HP:0002315 ! Headache
relationship: has_phenotype HP:0003470 ! Paralysis
relationship: has_material_basis SYMP:0000030 ! paralysis
relationship: has_material_basis SYMP:0000128 ! conjunctivitis
relationship: has_material_basis SYMP:0000175 ! watery diarrhea
relationship: has_material_basis SYMP:0000504 ! headache
relationship: has_material_basis NCBITaxon:11176 ! Newcastle disease virus
relationship: has_locus UBERON:0007379 ! egg
relationship: has_locus UBERON:0007811 ! craniocervical region
relationship: has_locus UBERON:0001088 ! urine
relationship: has_locus UBERON:0001988 ! feces
[Term]
id: DOID:299 ! adenocarcinoma
relationship: has_locus CL:0000066 ! epithelial cell
! A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue.
is_a: DOID:305 ! carcinoma
relationship: has_phenotype MP:0002038 ! carcinoma
relationship: has_material_basis GO:0005623 ! cell
relationship: has_material_basis CL:0000000 ! cell
relationship: has_locus UBERON:0000479 ! tissue
[Term]
id: DOID:299 ! adenocarcinoma
relationship: has_locus CL:0000000 ! cell
! A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue.
[Term]
id: DOID:2994 ! germ cell cancer
relationship: has_locus CL:0000586 ! germ cell
! A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from germ cells.
is_a: DOID:0050687 ! cell type cancer
relationship: has_material_basis GO:0005623 ! cell
relationship: has_material_basis CL:0000000 ! cell
[Term]
id: DOID:2994 ! germ cell cancer
relationship: has_locus CL:0000000 ! cell
! A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from germ cells.
[Term]
id: DOID:3025 ! acinar cell carcinoma
relationship: has_locus CL:0000000 ! cell
! A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from spindle cells and/or derives_from giant cells.
is_a: DOID:305 ! carcinoma
relationship: has_phenotype MP:0002038 ! carcinoma
relationship: has_material_basis GO:0005623 ! cell
relationship: has_material_basis CL:0000000 ! cell
[Term]
id: DOID:3030 ! mucinous adenocarcinoma
relationship: has_locus CL:0000066 ! epithelial cell
! An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin.
is_a: DOID:299 ! adenocarcinoma
relationship: has_phenotype MP:0009308 ! adenocarcinoma
relationship: has_locus UBERON:0000479 ! tissue
[Term]
id: DOID:305 ! carcinoma
relationship: has_locus CL:0000066 ! epithelial cell
! A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from epithelial cells.
is_a: DOID:0050687 ! cell type cancer
relationship: has_material_basis GO:0005623 ! cell
relationship: has_material_basis CL:0000000 ! cell
[Term]
id: DOID:305 ! carcinoma
relationship: has_locus CL:0000000 ! cell
! A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from epithelial cells.
[Term]
id: DOID:3069 ! astrocytoma
relationship: has_locus CL:0000000 ! cell
! A malignant glioma that is has_material_basis_in astocyte cells, a type of glial cell, located_in the cerebrum.
is_a: DOID:3070 ! malignant glioma
relationship: has_material_basis GO:0005623 ! cell
relationship: has_material_basis CL:0000000 ! cell
relationship: has_material_basis CL:0000125 ! glial cell
relationship: has_locus UBERON:0001893 ! telencephalon
[Term]
id: DOID:3069 ! astrocytoma
relationship: has_locus CL:0000125 ! glial cell
! A malignant glioma that is has_material_basis_in astocyte cells, a type of glial cell, located_in the cerebrum.
[Term]
id: DOID:3070 ! malignant glioma
relationship: has_locus CL:0000125 ! glial cell
! A cell type cancer that has_material_basis_in glial cells and is located_in brain or located_in spine.
is_a: DOID:0050687 ! cell type cancer
relationship: has_material_basis CL:0000125 ! glial cell
relationship: has_locus UBERON:0000955 ! brain
relationship: has_locus UBERON:0001130 ! vertebral column
[Term]
id: DOID:3095 ! germ cell and embryonal cancer
relationship: has_locus CL:0000000 ! cell
! A germ cell cancer that is derived_from a mixture of germs cells and embryonal cells.
is_a: DOID:2994 ! germ cell cancer
[Term]
id: DOID:3109 ! idiopathic CD4-positive T-lymphocytopenia