angiosarcoma
type: Class
subclass of: vascular cancer
IAO_0000115: A vascular cancer that derives_from the cells that line the walls of blood vessels or lymphatic vessels.
has alternative id: DOID:267
has alternative id: DOID:4508
has db xref: ICDO:9120/3
has db xref: MESH:D006394
has db xref: NCI:C3088
has db xref: NCI:C9275
has db xref: SNOMEDCT_US_2023_03_01:39000009
has db xref: UMLS_CUI:C0018923
has db xref: UMLS_CUI:C0854893
has exact synonym: hemangiosarcoma
has OBO namespace: disease_ontology
id: DOID:0001816
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: angiosarcoma
annotated property: IAO_0000115
annotated target: A vascular cancer that derives_from the cells that line the walls of blood vessels or lymphatic vessels.
type: ECO_0007636
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/Hemangiosarcoma
has db xref: url:https://en.wikipedia.org/wiki/Angiosarcoma
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3088
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/23327728

disease of metabolism
type: Class
subclass of: disease
IAO_0000115: A disease that involves errors in metabolic processes of building or degradation of molecules.
has db xref: ICD10CM:E88.9
has db xref: ICD9CM:277.9
has db xref: MESH:D008659
has db xref: NCI:C3235
has db xref: SNOMEDCT_US_2023_03_01:75934005
has db xref: UMLS_CUI:C0025517
has exact synonym: metabolic disease
has OBO namespace: disease_ontology
id: DOID:0014667
in subset: DO AGR slim
in subset: DO CFDE slim
in subset: DO GXD slim
in subset: NCIthesaurus

Axiom
annotated source: disease of metabolism
annotated property: IAO_0000115
annotated target: A disease that involves errors in metabolic processes of building or degradation of molecules.
type: ECO_0007646
has db xref: url:http://www.ncbi.nlm.nih.gov/books/NBK22259/

drug-induced lupus erythematosus
type: Class
subclass of: DOID 8857
IAO_0000115: A lupus erythematosus caused by chronic use of certain drugs.
has db xref: ICD10CM:M32.0
has db xref: NCI:C114354
has db xref: ORDO:231111
has db xref: SNOMEDCT_US_2023_03_01:80258006
has db xref: UMLS_CUI:C0263591
has exact synonym: DIL
has exact synonym: DILE
has OBO namespace: disease_ontology
id: DOID:0040093
in subset: DO IEDB slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: drug-induced lupus erythematosus
annotated property: IAO_0000115
annotated target: A lupus erythematosus caused by chronic use of certain drugs.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/1378852
comment: IEDB:RV

Axiom
annotated source: drug-induced lupus erythematosus
annotated property: hasExactSynonym
annotated target: DIL
has synonym type: OMO_0003012

Axiom
annotated source: drug-induced lupus erythematosus
annotated property: hasExactSynonym
annotated target: DILE
has synonym type: OMO_0003012

hemophagocytic lymphohistiocytosis
type: Class
subclass of: disease
IAO_0000115: 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.
has alternative id: DOID:6453
has db xref: GARD:6589
has db xref: ICD10CM:D76.1
has db xref: MESH:D051359
has db xref: MIM:PS267700
has db xref: NCI:C34792
has db xref: ORDO:540
has db xref: SNOMEDCT_US_2023_03_01:190958003
has db xref: UMLS_CUI:C0024291
has exact synonym: haemophagocytic syndrome
has OBO namespace: disease_ontology
id: DOID:0050120
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. MESH:C537250 added from NeuroDevNet [WAK].

Axiom
annotated source: hemophagocytic lymphohistiocytosis
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007637
type: ECO_0007645
has db xref: url:http://ghr.nlm.nih.gov/condition/familial-hemophagocytic-lymphohistiocytosis
has db xref: url:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31801997000500007&lng=pt&nrm=iso

sinusitis
type: Class
subclass of: paranasal sinus disease
IAO_0000115: A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip.
has alternative id: DOID:2052
has alternative id: DOID:9564
has db xref: ICD10CM:J01
has db xref: ICD9CM:461
has db xref: NCI:C128411
has db xref: SNOMEDCT_US_2023_03_01:195649005
has db xref: UMLS_CUI:C0149512
has OBO namespace: disease_ontology
id: DOID:0050127
in subset: NCIthesaurus

Axiom
annotated source: sinusitis
annotated property: IAO_0000115
annotated target: A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/sinusitis

Kartagener syndrome
type: Class
subclass of: DOID 9562
IAO_0000115: A primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development.
has db xref: GARD:6815
has db xref: MESH:D007619
has db xref: NCI:C84797
has db xref: ORDO:98861
has db xref: SNOMEDCT_US_2021_09_01:42402006
has exact synonym: Kartagener's syndrome
has OBO namespace: disease_ontology
id: DOID:0050144
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Kartagener syndrome
annotated property: IAO_0000115
annotated target: A primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development.
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/Situs_inversus#Kartagener_syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/19529061
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/23243352
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/24019633
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/25633235

idiopathic pulmonary fibrosis
type: Class
subclass of: pulmonary fibrosis
IAO_0000115: A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe.
has db xref: EFO:0000768
has db xref: GARD:8609
has db xref: ICD10CM:J84.112
has db xref: ICD9CM:516.31
has db xref: MESH:D054990
has db xref: NCI:C35716
has db xref: SNOMEDCT_US_2023_03_01:28168000
has db xref: UMLS_CUI:C1800706
has exact synonym: FIBROCYSTIC PULMONARY DYSPLASIA
has exact synonym: IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL
has exact synonym: cryptogenic fibrosing alveolitis
has OBO namespace: disease_ontology
id: DOID:0050156
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: idiopathic pulmonary fibrosis
annotated property: IAO_0000115
annotated target: A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/32855221/
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK448162/
has db xref: url:https://www.nhlbi.nih.gov/health/idiopathic-pulmonary-fibrosis
has db xref: url:https://www.pulmonaryfibrosis.org/life-with-pf/about-ipf

cryptogenic organizing pneumonia
type: Class
subclass of: DOID 552
IAO_0000115: An idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). A flu-like illness, with a cough, fever, a feeling of illness (malaise), fatigue, and weight loss, heralds the onset in about 50% of people. Frequent presence of crackling sounds (called Velcro crackles) when the doctor listens with a stethoscope.
has alternative id: DOID:2798
has db xref: GARD:1620
has db xref: ICD10CM:J84.116
has db xref: ICD9CM:516.36
has db xref: MESH:D018549
has db xref: NCI:C62586
has db xref: SNOMEDCT_US_2023_03_01:129458007
has db xref: UMLS_CUI:C0242770
has exact synonym: BOOP
has exact synonym: Cryptogenic organising pneumonitis
has exact synonym: Cryptogenic organizing pneumonitis
has exact synonym: bronchiolitis obliterans organising pneumonia
has exact synonym: bronchiolitis obliterans organizing pneumonia
has exact synonym: cryptogenic organising pneumonia
has exact synonym: idiopathic bronchiolitis obliterans with organising pneumonia
has exact synonym: idiopathic bronchiolitis obliterans with organizing pneumonia
has OBO namespace: disease_ontology
id: DOID:0050157
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: cryptogenic organizing pneumonia
annotated property: IAO_0000115
annotated target: An idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). A flu-like illness, with a cough, fever, a feeling of illness (malaise), fatigue, and weight loss, heralds the onset in about 50% of people. Frequent presence of crackling sounds (called Velcro crackles) when the doctor listens with a stethoscope.
type: ECO_0007637
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/11790668

Axiom
annotated source: cryptogenic organizing pneumonia
annotated property: hasExactSynonym
annotated target: BOOP
has synonym type: OMO_0003012

desquamative interstitial pneumonia
type: Class
subclass of: DOID 552
IAO_0000115: An idiopathic interstitial pneumonia that is characterized by the accumulation of bronchiolocentric alveolar macrophages in alveolar spaces and interstitial inflammation and involves mild bronchiolar fibrosis and chronic inflammation.
has alternative id: DOID:2796
has db xref: ICD10CM:J84.117
has db xref: ICD9CM:516.37
has db xref: MESH:C562470
has db xref: MIM:263000
has db xref: NCI:C35288
has db xref: SNOMEDCT_US_2023_03_01:8549006
has db xref: UMLS_CUI:C0238378
has exact synonym: RBILD
has exact synonym: familial desquamative interstitial pneumonitis
has exact synonym: respiratory bronchiolitis-associated interstitial lung disease
has OBO namespace: disease_ontology
id: DOID:0050158
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: desquamative interstitial pneumonia
annotated property: IAO_0000115
annotated target: An idiopathic interstitial pneumonia that is characterized by the accumulation of bronchiolocentric alveolar macrophages in alveolar spaces and interstitial inflammation and involves mild bronchiolar fibrosis and chronic inflammation.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/11790668
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/16142185
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/16456642
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/23001799

Axiom
annotated source: desquamative interstitial pneumonia
annotated property: hasExactSynonym
annotated target: RBILD
has synonym type: OMO_0003012

Lambert-Eaton myasthenic syndrome
type: Class
subclass of: neuromuscular disease
IAO_0000115: A neuromuscular junction disease that is characterized by an abnormality of acetylcholine (ACh) release at the neuromuscular junction which results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal.
has db xref: ICD10CM:G70.80
has db xref: ICD9CM:358.3
has db xref: MESH:D015624
has db xref: NCI:C3155
has db xref: SNOMEDCT_US_2023_03_01:230688006
has db xref: UMLS_CUI:C0022972
has exact synonym: Eaton-Lambert syndrome
has exact synonym: LEMS
has exact synonym: Lambert-Eaton syndrome
has OBO namespace: disease_ontology
id: DOID:0050214
in subset: NCIthesaurus

Axiom
annotated source: Lambert-Eaton myasthenic syndrome
annotated property: IAO_0000115
annotated target: A neuromuscular junction disease that is characterized by an abnormality of acetylcholine (ACh) release at the neuromuscular junction which results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Lambert%E2%80%93Eaton_myasthenic_syndrome

Axiom
annotated source: Lambert-Eaton myasthenic syndrome
annotated property: hasExactSynonym
annotated target: LEMS
has synonym type: OMO_0003012

Trichomonas vaginalis trichomoniasis
type: Class
subclass of: trichomoniasis
IAO_0000115: A trichomoniasis that involves infection of the urogenital tract, has_material_basis_in Trichomonas vaginalis, which is transmitted through sexual contact. Symptoms include inflammation of the cervix, urethra and vagina which produce an itching or burning sensation, and yellow-green, itchy, frothy foul-smelling vaginal discharge.
has db xref: ICD10CM:A59.00
has db xref: MESH:D014247
has db xref: NCI:C35083
has exact synonym: urogenital trichomonas
has OBO namespace: disease_ontology
id: DOID:0050269
in subset: DO IEDB slim
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: Trichomonas vaginalis trichomoniasis
annotated property: IAO_0000115
annotated target: A trichomoniasis that involves infection of the urogenital tract, has_material_basis_in Trichomonas vaginalis, which is transmitted through sexual contact. Symptoms include inflammation of the cervix, urethra and vagina which produce an itching or burning sensation, and yellow-green, itchy, frothy foul-smelling vaginal discharge.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Trichomoniasis

congenital hypothyroidism
type: Class
subclass of: hypothyroidism
IAO_0000115: A hypothyroidism that is present at birth.
has alternative id: DOID:11631
has alternative id: DOID:11632
has db xref: GARD:1487
has db xref: ICD10CM:E00.1
has db xref: ICD10CM:E03.1
has db xref: ICD9CM:243
has db xref: MESH:D003409
has db xref: MIM:PS275200
has db xref: NCI:C26734
has db xref: NCI:C98921
has db xref: SNOMEDCT_US_2023_03_01:217710005
has db xref: SNOMEDCT_US_2023_03_01:75065003
has db xref: UMLS_CUI:C0010308
has db xref: UMLS_CUI:C0342200
has OBO namespace: disease_ontology
id: DOID:0050328
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: congenital hypothyroidism
annotated property: IAO_0000115
annotated target: A hypothyroidism that is present at birth.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Congenital_hypothyroidism
has db xref: url:http://ghr.nlm.nih.gov/condition/congenital-hypothyroidism

familial adenomatous polyposis
type: Class
subclass of: DOID 5295
IAO_0000115: An intestinal disease that is characterized by predisposition to colon cancer.
has db xref: GARD:6408
has db xref: MESH:D011125
has db xref: MIM:PS175100
has db xref: NCI:C3339
has db xref: ORDO:733
has db xref: SNOMEDCT_US_2023_03_01:72900001
has db xref: UMLS_CUI:C0032580
has exact synonym: adenomatous polyposis of the colon
has OBO namespace: disease_ontology
id: DOID:0050424
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: familial adenomatous polyposis
annotated property: IAO_0000115
annotated target: An intestinal disease that is characterized by predisposition to colon cancer.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Familial_adenomatous_polyposis
has db xref: url:https://pmc.ncbi.nlm.nih.gov/articles/PMC8256374/
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK1345/

restless legs syndrome
type: Class
subclass of: central nervous system disease
IAO_0000115: A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them.
has db xref: EFO:0004270
has db xref: GARD:11926
has db xref: ICD10CM:G25.81
has db xref: ICD9CM:333.94
has db xref: MESH:D012148
has db xref: MIM:PS102300
has db xref: NCI:C84501
has db xref: SNOMEDCT_US_2023_03_01:32914008
has db xref: UMLS_CUI:C0035258
has exact synonym: WED
has exact synonym: Willis-Ekbom disease
has exact synonym: Wittmaack-Ekbom syndrome
has OBO namespace: disease_ontology
id: DOID:0050425
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: restless legs syndrome
annotated property: IAO_0000115
annotated target: A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Restless_legs_syndrome
has db xref: url:http://www.ninds.nih.gov/disorders/restless_legs/detail_restless_legs.htm

Axiom
annotated source: restless legs syndrome
annotated property: hasExactSynonym
annotated target: WED
has synonym type: OMO_0003012

Stevens-Johnson syndrome
type: Class
subclass of: skin disease
IAO_0000115: A skin disease that is characterized by ulceration of less than 10 percent of the surface area of the body. The disease is often precipitated by the use of medications, such as antibiotics or antiepileptics, or onset of infection.
has db xref: EFO:0004276
has db xref: GARD:7700
has db xref: ICD10CM:L51.1
has db xref: ICD9CM:695.13
has db xref: MESH:D013262
has db xref: NCI:C79484
has db xref: SNOMEDCT_US_2023_03_01:73442001
has db xref: UMLS_CUI:C0038325
has OBO namespace: disease_ontology
id: DOID:0050426
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Stevens-Johnson syndrome
annotated property: IAO_0000115
annotated target: A skin disease that is characterized by ulceration of less than 10 percent of the surface area of the body. The disease is often precipitated by the use of medications, such as antibiotics or antiepileptics, or onset of infection.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Stevens%E2%80%93Johnson_syndrome

xeroderma pigmentosum
type: Class
subclass of: syndrome
IAO_0000115: A syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair.
has db xref: GARD:7910
has db xref: ICD10CM:Q82.1
has db xref: MESH:D014983
has db xref: NCI:C3452
has db xref: ORDO:910
has db xref: SNOMEDCT_US_2023_03_01:44600005
has db xref: UMLS_CUI:C0043346
has OBO namespace: disease_ontology
id: DOID:0050427
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: xeroderma pigmentosum
annotated property: IAO_0000115
annotated target: A syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair.
type: ECO_0007636
has db xref: url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/339/viewAbstract

Hailey-Hailey disease
type: Class
subclass of: DOID 9182
IAO_0000115: A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin, particularly the groin and axillary regions, and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected.
has db xref: GARD:6559
has db xref: ICD10CM:Q82.8
has db xref: MESH:D016506
has db xref: MIM:169600
has db xref: NCI:C82865
has db xref: SNOMEDCT_US_2023_03_01:79468000
has db xref: UMLS_CUI:C0085106
has exact synonym: BENIGN CHRONIC PEMPHIGUS
has exact synonym: Pemphigus, Benign Familial
has OBO namespace: disease_ontology
id: DOID:0050429
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Hailey-Hailey disease
annotated property: IAO_0000115
annotated target: A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin, particularly the groin and axillary regions, and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected.
type: ECO_0007636
has db xref: url:https://rarediseases.org/rare-diseases/hailey-hailey-disease/

multiple endocrine neoplasia type 2A
type: Class
subclass of: syndrome
IAO_0000115: A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis.
has db xref: ICD10CM:E31.22
has db xref: ICD9CM:258.02
has db xref: MESH:D018813
has db xref: MIM:171400
has db xref: NCI:C3226
has db xref: ORDO:247698
has db xref: SNOMEDCT_US_2023_03_01:721188000
has db xref: UMLS_CUI:C0025268
has exact synonym: MEN2A
has exact synonym: Sipple syndrome
has exact synonym: multiple endocrine neoplasia II
has OBO namespace: disease_ontology
id: DOID:0050430
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: multiple endocrine neoplasia type 2A
annotated property: IAO_0000115
annotated target: A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007645
has db xref: url:http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia
has db xref: url:http://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/multiple_endocrine_neoplasia_men_syndromes/multiple_endocrine_neoplasia_type_2a_men_2a.html
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/15965261
has db xref: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1244/viewAbstract

Axiom
annotated source: multiple endocrine neoplasia type 2A
annotated property: hasExactSynonym
annotated target: MEN2A
has synonym type: OMO_0003012

arrhythmogenic right ventricular cardiomyopathy
type: Class
subclass of: cardiomyopathy
IAO_0000115: An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle and limited or no involvement of the left ventricle.
has db xref: MESH:D019571
has db xref: MIM:PS107970
has db xref: NCI:C84571
has db xref: ORDO:217656
has db xref: ORDO:247
has db xref: SNOMEDCT_US_2023_03_01:281170005
has db xref: UMLS_CUI:C0349788
has exact synonym: ARVC
has exact synonym: ARVC cardiomyopathy
has exact synonym: ARVD
has exact synonym: arrhythmogenic right ventricular dysplasia
has exact synonym: arrhythmogenic right ventricular dysplasia/cardiomyopathy
has exact synonym: right ventricular ACM
has OBO namespace: disease_ontology
id: DOID:0050431
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: arrhythmogenic right ventricular cardiomyopathy
annotated property: IAO_0000115
annotated target: An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle and limited or no involvement of the left ventricle.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Arrhythmogenic_right_ventricular_dysplasia
has db xref: url:http://ghr.nlm.nih.gov/condition/arrhythmogenic-right-ventricular-cardiomyopathy
has db xref: url:http://my.clevelandclinic.org/services/heart/disorders/arvd
has db xref: url:http://www.hopkinsmedicine.org/heart_vascular_institute/clinical_services/centers_excellence/arvd/patient_resources/questions.html
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/31637441/

Axiom
annotated source: arrhythmogenic right ventricular cardiomyopathy
annotated property: hasExactSynonym
annotated target: ARVC
has synonym type: OMO_0003012

Axiom
annotated source: arrhythmogenic right ventricular cardiomyopathy
annotated property: hasExactSynonym
annotated target: ARVD
has synonym type: OMO_0003012

Asperger syndrome
type: Class
subclass of: disease of mental health
IAO_0000115: An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development.
has db xref: GARD:5855
has db xref: ICD10CM:F84.5
has db xref: MESH:D020817
has db xref: MIM:608631
has db xref: MIM:608638
has db xref: MIM:608781
has db xref: MIM:609954
has db xref: MIM:PS608638
has db xref: NCI:C97159
has db xref: ORDO:1162
has db xref: SNOMEDCT_US_2023_03_01:154879004
has db xref: UMLS_CUI:C0236792
has OBO namespace: disease_ontology
id: DOID:0050432
in subset: DO rare slim
in subset: NCIthesaurus
comment: Multiple OMIM IDs are susceptibility terms [LS]

Axiom
annotated source: Asperger syndrome
annotated property: IAO_0000115
annotated target: An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Asperger_syndrome
has db xref: url:http://www.neurodevnet.ca

fatal familial insomnia
type: Class
subclass of: DOID 649
IAO_0000115: A prion disease that is characterized by insomnia, hallucinations, dementia and death, located_in the brain.
has db xref: GARD:6429
has db xref: ICD10CM:A81.83
has db xref: ICD9CM:046.72
has db xref: MESH:D034062
has db xref: MIM:600072
has db xref: NCI:C84711
has db xref: SNOMEDCT_US_2023_03_01:83157008
has db xref: UMLS_CUI:C0206042
has OBO namespace: disease_ontology
id: DOID:0050433
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: fatal familial insomnia
annotated property: IAO_0000115
annotated target: A prion disease that is characterized by insomnia, hallucinations, dementia and death, located_in the brain.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Fatal_familial_insomnia

Andersen-Tawil syndrome
type: Class
subclass of: long QT syndrome
IAO_0000115: A long QT syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly.
has db xref: GARD:9453
has db xref: MESH:D050030
has db xref: MIM:170390
has db xref: NCI:C84559
has db xref: ORDO:37553
has db xref: SNOMEDCT_US_2023_03_01:422348008
has db xref: UMLS_CUI:C1563715
has exact synonym: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
has exact synonym: Andersen syndrome
has exact synonym: LQT7
has exact synonym: Long QT syndrome 7
has exact synonym: Potassium-Sensitive Cardiodysrhythmic Type
has OBO namespace: disease_ontology
id: DOID:0050434
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Andersen-Tawil syndrome
annotated property: IAO_0000115
annotated target: A long QT syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Andersen%E2%80%93Tawil_syndrome
has db xref: url:http://en.wikipedia.org/wiki/Long_QT_syndrome

Axiom
annotated source: Andersen-Tawil syndrome
annotated property: hasExactSynonym
annotated target: LQT7
has synonym type: OMO_0003012

mulibrey nanism
type: Class
subclass of: syndrome
IAO_0000115: A syndrome that is characterized by global growth retardation of the muscle, liver, brain and eyes as well as constrictive pericarditis and has_material_basis_in mutations in the TRIM37 gene.
has db xref: GARD:95
has db xref: MESH:D050336
has db xref: MIM:253250
has db xref: NCI:C84906
has db xref: ORDO:2576
has db xref: SNOMEDCT_US_2023_03_01:81604003
has db xref: UMLS_CUI:C0524582
has exact synonym: MUL
has exact synonym: Mulibrey growth disorder
has exact synonym: Muscle-Liver-Brain-Eye Nanism
has exact synonym: PERICARDIAL CONSTRICTION AND GROWTH FAILURE
has exact synonym: Perheentupa Syndrome
has OBO namespace: disease_ontology
id: DOID:0050436
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: mulibrey nanism
annotated property: IAO_0000115
annotated target: A syndrome that is characterized by global growth retardation of the muscle, liver, brain and eyes as well as constrictive pericarditis and has_material_basis_in mutations in the TRIM37 gene.
type: ECO_0007636
has db xref: url:https://rarediseases.org/rare-diseases/mulibrey-nanism/

Axiom
annotated source: mulibrey nanism
annotated property: hasExactSynonym
annotated target: MUL
has synonym type: OMO_0003012

Danon disease
type: Class
subclass of: lysosomal storage disease
IAO_0000115: A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene.
has db xref: GARD:9730
has db xref: MESH:D052120
has db xref: MIM:300257
has db xref: NCI:C84735
has db xref: SNOMEDCT_US_2023_03_01:419097006
has db xref: UMLS_CUI:C0878677
has exact synonym: ANTOPOL DISEASE
has exact synonym: PSEUDOGLYCOGENOSIS II
has OBO namespace: disease_ontology
id: DOID:0050437
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Danon disease
annotated property: IAO_0000115
annotated target: A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene.
type: ECO_0007636
has db xref: url:https://rarediseases.org/rare-diseases/danon-disease/

Frasier syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome that is characterized by gonadal dysgenesis, streak gonads, progressive focal segmental glomerulonephropathy and the development of urogenital cancers that is the result of mutation in the WT1 gene.
has db xref: GARD:2375
has db xref: MESH:D052159
has db xref: MIM:136680
has db xref: NCI:C122805
has db xref: SNOMEDCT_US_2023_03_01:445431000
has db xref: UMLS_CUI:C0950122
has OBO namespace: disease_ontology
id: DOID:0050438
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Frasier syndrome
annotated property: IAO_0000115
annotated target: A syndrome that is characterized by gonadal dysgenesis, streak gonads, progressive focal segmental glomerulonephropathy and the development of urogenital cancers that is the result of mutation in the WT1 gene.
type: ECO_0007637
has db xref: url:https://ghr.nlm.nih.gov/condition/frasier-syndrome

Usher syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by a combination of hearing loss and visual impairment.
has db xref: GARD:7843
has db xref: MESH:D052245
has db xref: MIM:PS276900
has db xref: NCI:C85217
has db xref: ORDO:886
has db xref: SNOMEDCT_US_2023_03_01:57838006
has db xref: UMLS_CUI:C0271097
has OBO namespace: disease_ontology
id: DOID:0050439
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: Usher syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by a combination of hearing loss and visual impairment.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Usher_syndrome

familial partial lipodystrophy
type: Class
subclass of: DOID 811
IAO_0000115: A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life.
has db xref: GARD:11962
has db xref: MESH:D052496
has db xref: MIM:PS151660
has db xref: NCI:C165527
has db xref: NCI:C84708
has db xref: ORDO:98306
has db xref: SNOMEDCT_US_2023_03_01:1197745002
has db xref: SNOMEDCT_US_2023_03_01:49292002
has db xref: SNOMEDCT_US_2023_03_01:715439000
has db xref: SNOMEDCT_US_2023_03_01:725035001
has db xref: UMLS_CUI:C0271694
has db xref: UMLS_CUI:C1720859
has db xref: UMLS_CUI:C1720860
has db xref: UMLS_CUI:C1720861
has exact synonym: Dunnigan Syndrome
has exact synonym: Koberling-Dunnigan Syndrome
has OBO namespace: disease_ontology
id: DOID:0050440
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: familial partial lipodystrophy
annotated property: IAO_0000115
annotated target: A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life.
type: ECO_0007636
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Familial_partial_lipodystrophy
has db xref: url:http://omim.org/entry/608600

mucosulfatidosis
type: Class
subclass of: sphingolipidosis
IAO_0000115: A sphingolipidosis that is characterized by leukodystrophy, ichthyosis, skeletal abnormalities and shortened life expectancy and has_material_basis_in mutation in the SUMF1 gene that results in deficiency in multiple sulfatase enzymes.
has db xref: ICD10CM:E75.26
has db xref: MESH:D052517
has db xref: MIM:272200
has db xref: NCI:C84908
has db xref: SNOMEDCT_US_2023_03_01:254076009
has db xref: SNOMEDCT_US_2023_03_01:54898003
has db xref: UMLS_CUI:C0268263
has db xref: UMLS_CUI:C1720864
has exact synonym: Sulfatidosis, Juvenile, Austin Type
has exact synonym: multiple sulfatase deficiency disease
has OBO namespace: disease_ontology
id: DOID:0050441
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: mucosulfatidosis
annotated property: IAO_0000115
annotated target: A sphingolipidosis that is characterized by leukodystrophy, ichthyosis, skeletal abnormalities and shortened life expectancy and has_material_basis_in mutation in the SUMF1 gene that results in deficiency in multiple sulfatase enzymes.
type: ECO_0007637
has db xref: url:https://ghr.nlm.nih.gov/condition/multiple-sulfatase-deficiency

infantile Refsum disease
type: Class
subclass of: DOID 906
IAO_0000115: A peroxisomal disease that is characterized by neurological impairment, intellectual disability, hepatosplenomegaly and ichthyosis and results from the accumulation of very long chain fatty acids and phytanic acid, secondary to mutation in the PEX genes.
has db xref: ICD10CM:G60.1
has db xref: MESH:D052919
has db xref: NCI:C84789
has db xref: SNOMEDCT_US_2023_03_01:238062008
has db xref: UMLS_CUI:C0282527
has exact synonym: infantile phytanic acid storage disease
has OBO namespace: disease_ontology
id: DOID:0050444
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: infantile Refsum disease
annotated property: IAO_0000115
annotated target: A peroxisomal disease that is characterized by neurological impairment, intellectual disability, hepatosplenomegaly and ichthyosis and results from the accumulation of very long chain fatty acids and phytanic acid, secondary to mutation in the PEX genes.
has db xref: url:https://en.wikipedia.org/wiki/Infantile_Refsum_disease
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK560618/

X-linked hypophosphatemic rickets
type: Class
subclass of: rickets
IAO_0000115: A rickets that has_material_basis_in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization.
has db xref: GARD:12943
has db xref: MESH:D053098
has db xref: MIM:307800
has db xref: NCI:C85234
has db xref: UMLS_CUI:C0733682
has db xref: UMLS_CUI:C1845168
has db xref: UMLS_CUI:C3540852
has exact synonym: Hypophosphatemia, Vitamin D-Resistant Rickets
has exact synonym: Vitamin D-Resistant Rickets, X-Linked
has exact synonym: X-linked dominant hypophosphatemic rickets
has exact synonym: X-linked hypophosphatemia
has exact synonym: hypophosphatemic rickets X-linked dominant
has OBO namespace: disease_ontology
id: DOID:0050445
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: X-linked hypophosphatemic rickets
annotated property: IAO_0000115
annotated target: A rickets that has_material_basis_in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/X-linked_hypophosphatemia
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK83985/

white sponge nevus
type: Class
subclass of: skin disease
IAO_0000115: A skin disease characterized by a defect in the normal process of keratinization of the mucosa.
has db xref: GARD:8501
has db xref: MESH:D053529
has db xref: MIM:PS193900
has db xref: NCI:C84760
has db xref: ORDO:171723
has db xref: SNOMEDCT_US_2023_03_01:85388002
has db xref: UMLS_CUI:C1721005
has exact synonym: hereditary mucosal leukokeratosis
has exact synonym: white sponge nevus of Cannon
has OBO namespace: disease_ontology
id: DOID:0050448
in subset: DO rare slim
in subset: NCIthesaurus
comment: 2023 nomenclature update to white sponge nevus.

Axiom
annotated source: white sponge nevus
annotated property: IAO_0000115
annotated target: A skin disease characterized by a defect in the normal process of keratinization of the mucosa.
type: ECO_0007636
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/White_sponge_nevus
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/29034652/

pachyonychia congenita
type: Class
subclass of: syndrome
IAO_0000115: A syndrome that is characterized by hypertrophic nails and hyperkeratosis of the hands and feet and has_material_basis_in gene mutations that result in changes in keratin.
has db xref: GARD:10753
has db xref: MESH:D053549
has db xref: MIM:PS167200
has db xref: NCI:C84986
has db xref: ORDO:2309
has db xref: SNOMEDCT_US_2023_03_01:39427000
has db xref: UMLS_CUI:C0265334
has db xref: UMLS_CUI:C1706595
has db xref: UMLS_CUI:C1721007
has exact synonym: Jackson-Lawler Type Pachyonychia Congenita
has exact synonym: Jadassohn-Lewandowsky Syndrome
has exact synonym: PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE
has exact synonym: Pachyonychia Congenita Type 1
has OBO namespace: disease_ontology
id: DOID:0050449
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: pachyonychia congenita
annotated property: IAO_0000115
annotated target: A syndrome that is characterized by hypertrophic nails and hyperkeratosis of the hands and feet and has_material_basis_in gene mutations that result in changes in keratin.
type: ECO_0007637
has db xref: url:https://ghr.nlm.nih.gov/condition/pachyonychia-congenita

Gitelman syndrome
type: Class
subclass of: DOID 557
IAO_0000115: A renal tubular transport disease that is has_material_basis_in mutations in genes that produce proteins involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream, thus impairing the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting).
has db xref: GARD:8547
has db xref: MESH:D053579
has db xref: MIM:263800
has db xref: NCI:C84730
has db xref: SNOMEDCT_US_2023_03_01:3188003
has db xref: UMLS_CUI:C0268450
has exact synonym: HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA
has OBO namespace: disease_ontology
id: DOID:0050450
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Gitelman syndrome
annotated property: IAO_0000115
annotated target: A renal tubular transport disease that is has_material_basis_in mutations in genes that produce proteins involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream, thus impairing the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting).
type: ECO_0007637
has db xref: url:https://ghr.nlm.nih.gov/condition/gitelman-syndrome

Brugada syndrome
type: Class
subclass of: heart disease
IAO_0000115: A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death.
has db xref: GARD:1030
has db xref: ICD10CM:I49.8
has db xref: MESH:D053840
has db xref: MIM:PS601144
has db xref: NCI:C142891
has db xref: ORDO:130
has db xref: SNOMEDCT_US_2023_03_01:418818005
has db xref: UMLS_CUI:C1142166
has db xref: UMLS_CUI:C1721096
has exact synonym: Bangungut
has exact synonym: Brugada type idiopathic ventricular fibrillation
has exact synonym: Dream disease
has exact synonym: Pokkuri death syndrome
has exact synonym: SUNDS
has exact synonym: sudden unexplained nocturnal death syndrome
has OBO namespace: disease_ontology
id: DOID:0050451
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Brugada syndrome
annotated property: IAO_0000115
annotated target: A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Brugada_syndrome

Axiom
annotated source: Brugada syndrome
annotated property: hasExactSynonym
annotated target: SUNDS
has synonym type: OMO_0003012

mevalonic aciduria
type: Class
subclass of: DOID 906
IAO_0000115: A peroxisomal disease that is characterized by cortical atrophy, microcephaly, dysmorphic facies, muscular hypotonia and intellectual disability and has_material_basis_in mutation in the MVK gene that results in deficiency of mevalonate kinase and impaired cholesterol. biosynthesis.
has db xref: GARD:3588
has db xref: ICD10CM:M04.1
has db xref: MESH:D054078
has db xref: MIM:610377
has db xref: NCI:C84890
has db xref: ORDO:29
has db xref: SNOMEDCT_US_2023_03_01:124327008
has db xref: SNOMEDCT_US_2023_03_01:234538002
has db xref: UMLS_CUI:C0342731
has db xref: UMLS_CUI:C0398691
has db xref: UMLS_CUI:C1959626
has exact synonym: Mevalonate Kinase Deficiency
has OBO namespace: disease_ontology
id: DOID:0050452
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: mevalonic aciduria
annotated property: IAO_0000115
annotated target: A peroxisomal disease that is characterized by cortical atrophy, microcephaly, dysmorphic facies, muscular hypotonia and intellectual disability and has_material_basis_in mutation in the MVK gene that results in deficiency of mevalonate kinase and impaired cholesterol. biosynthesis.
type: ECO_0007637
has db xref: url:https://rarediseases.info.nih.gov/diseases/3588/mevalonic-aciduria

lissencephaly
type: Class
subclass of: disease
IAO_0000115: A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation.
has db xref: GARD:12291
has db xref: ICD10CM:Q04.3
has db xref: MESH:D054082
has db xref: MIM:PS607432
has db xref: NCI:C103921
has db xref: ORDO:102009
has db xref: SNOMEDCT_US_2023_03_01:204036008
has db xref: SNOMEDCT_US_2023_03_01:23024003
has db xref: UMLS_CUI:C0266463
has db xref: UMLS_CUI:C0266483
has OBO namespace: disease_ontology
id: DOID:0050453
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: lissencephaly
annotated property: IAO_0000115
annotated target: A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Lissencephaly
has db xref: url:http://www.ninds.nih.gov/disorders/lissencephaly/lissencephaly.htm

Buruli ulcer disease
type: Class
subclass of: bacterial infectious disease
IAO_0000115: A primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Mycobacterium ulcerans, which could be transmitted_by insects. The bacterium produces a toxin, named mycolactone, which causes subcutaneous fat necrosis and inhibits an immune response. The infection has_symptom nodule, which is a painless, mobile swelling in the skin.
has db xref: GARD:9520
has db xref: ICD10CM:A31.1
has db xref: MESH:D054312
has db xref: NCI:C84604
has db xref: SNOMEDCT_US_2023_03_01:186343005
has db xref: UMLS_CUI:C0085568
has exact synonym: Bairnsdale ulcer
has exact synonym: Daintree ulcer
has exact synonym: Mossman ulcer
has exact synonym: Searl ulcer
has exact synonym: Searle's ulcer
has OBO namespace: disease_ontology
id: DOID:0050456
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Buruli ulcer disease
annotated property: IAO_0000115
annotated target: A primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Mycobacterium ulcerans, which could be transmitted_by insects. The bacterium produces a toxin, named mycolactone, which causes subcutaneous fat necrosis and inhibits an immune response. The infection has_symptom nodule, which is a painless, mobile swelling in the skin.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Buruli_ulcer
has db xref: url:http://www.who.int/mediacentre/factsheets/fs199/en/

Sertoli cell-only syndrome
type: Class
subclass of: reproductive system disease
IAO_0000115: A male infertility disease characterized by male sterility, has_material_basis_in azospermia without abnormal sexual development.
has db xref: GARD:8406
has db xref: MESH:D054331
has db xref: NCI:C168988
has db xref: SNOMEDCT_US_2023_03_01:73465006
has db xref: UMLS_CUI:C1384583
has exact synonym: DEL CASTILLO SYNDROME
has exact synonym: Germinal Cell Aplasia
has OBO namespace: disease_ontology
id: DOID:0050457
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Sertoli cell-only syndrome
annotated property: IAO_0000115
annotated target: A male infertility disease characterized by male sterility, has_material_basis_in azospermia without abnormal sexual development.
type: ECO_0007637
has db xref: url:https://rarediseases.info.nih.gov/diseases/8406/sertoli-cell-only-syndrome

juvenile myelomonocytic leukemia
type: Class
subclass of: DOID 4972
IAO_0000115: A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes.
has db xref: GARD:9884
has db xref: ICD10CM:C93.3
has db xref: ICDO:9946/3
has db xref: MESH:D054429
has db xref: MIM:607785
has db xref: NCI:C9233
has db xref: SNOMEDCT_US_2023_03_01:445227008
has db xref: UMLS_CUI:C0349639
has OBO namespace: disease_ontology
id: DOID:0050458
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: juvenile myelomonocytic leukemia
annotated property: IAO_0000115
annotated target: A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes.
type: ECO_0007636
has db xref: url:https://rarediseases.org/rare-diseases/juvenile-myelomonocytic-leukemia/

hyperphosphatemia
type: Class
subclass of: phosphorus metabolism disease
IAO_0000115: A phosphorus metabolism disease characterized by hyperphosphatemia and abnormal deposits of phosphate and calcium in joints and soft tissues, results from abnormal phosphorus metabolism and has_material_basis_in mutations in the FGF23, GALNT3 or KL gene.
has db xref: MESH:D054559
has db xref: NCI:C113750
has db xref: SNOMEDCT_US_2023_03_01:20165001
has db xref: UMLS_CUI:C0085681
has OBO namespace: disease_ontology
id: DOID:0050459
in subset: NCIthesaurus

Axiom
annotated source: hyperphosphatemia
annotated property: IAO_0000115
annotated target: A phosphorus metabolism disease characterized by hyperphosphatemia and abnormal deposits of phosphate and calcium in joints and soft tissues, results from abnormal phosphorus metabolism and has_material_basis_in mutations in the FGF23, GALNT3 or KL gene.
type: ECO_0007637
has db xref: url:https://ghr.nlm.nih.gov/condition/hyperphosphatemic-familial-tumoral-calcinosis

Wolf-Hirschhorn syndrome
type: Class
subclass of: DOID 630
IAO_0000115: A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a hemizygous deletion of chromosome 4p16.3.
has alternative id: DOID:6684
has db xref: GARD:7896
has db xref: ICD10CM:Q93.3
has db xref: MESH:D054877
has db xref: MIM:194190
has db xref: NCI:C35528
has db xref: ORDO:280
has db xref: SNOMEDCT_US_2023_03_01:17122004
has db xref: UMLS_CUI:C0796117
has db xref: UMLS_CUI:C1956097
has exact synonym: 4p deletion syndrome
has exact synonym: PITT SYNDROME
has exact synonym: Pitt-Rogers-Danks Syndrome
has exact synonym: chromosome 4p16.3 deletion syndrome
has OBO namespace: disease_ontology
id: DOID:0050460
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: Wolf-Hirschhorn syndrome
annotated property: IAO_0000115
annotated target: A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a hemizygous deletion of chromosome 4p16.3.
type: ECO_0007637
has db xref: url:https://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome

aspartylglucosaminuria
type: Class
subclass of: lysosomal storage disease
IAO_0000115: A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has_material_basis_in mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins.
has db xref: GARD:5854
has db xref: ICD10CM:E77.1
has db xref: MESH:D054880
has db xref: MIM:208400
has db xref: NCI:C61273
has db xref: SNOMEDCT_US_2023_03_01:54954004
has db xref: UMLS_CUI:C0268225
has exact synonym: aspartylglucosaminidase deficiency
has exact synonym: aspartylglycosaminuria
has exact synonym: glycosylasparaginase deficiency
has OBO namespace: disease_ontology
id: DOID:0050461
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: aspartylglucosaminuria
annotated property: IAO_0000115
annotated target: A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has_material_basis_in mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins.
type: ECO_0007637
has db xref: url:https://ghr.nlm.nih.gov/condition/aspartylglucosaminuria

campomelic dysplasia
type: Class
subclass of: osteochondrodysplasia
IAO_0000115: An osteochondrodysplasia that has_material_basis_in heterozygous mutation in the SOX9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles.
has db xref: GARD:10027
has db xref: MESH:D055036
has db xref: MIM:114290
has db xref: NCI:C120205
has db xref: NCI:C84609
has db xref: ORDO:140
has db xref: UMLS_CUI:C1861922
has db xref: UMLS_CUI:C1861923
has exact synonym: Acampomelic Campomelic Dysplasia
has OBO namespace: disease_ontology
id: DOID:0050463
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: campomelic dysplasia
annotated property: IAO_0000115
annotated target: An osteochondrodysplasia that has_material_basis_in heterozygous mutation in the SOX9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Campomelic_dysplasia
has db xref: url:http://ghr.nlm.nih.gov/condition/campomelic-dysplasia
has db xref: url:http://www.healthline.com/galecontent/campomelic-dysplasia-1

Farber lipogranulomatosis
type: Class
subclass of: lysosomal storage disease
IAO_0000115: A lipid storage disease that is characterized by abnormalities in swallowing, cognition, joint function, and central nervous system due to a deficiency in the enzyme ceramidase that results in sphingolipids deposition.
has db xref: GARD:6426
has db xref: MESH:D055577
has db xref: MIM:228000
has db xref: NCI:C84710
has db xref: SNOMEDCT_US_2023_03_01:79935000
has db xref: UMLS_CUI:C0268255
has exact synonym: Farber disease
has exact synonym: N-laurylsphingosine deacylase deficiency
has exact synonym: acid ceramidase deficiency
has OBO namespace: disease_ontology
id: DOID:0050464
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Farber lipogranulomatosis
annotated property: IAO_0000115
annotated target: A lipid storage disease that is characterized by abnormalities in swallowing, cognition, joint function, and central nervous system due to a deficiency in the enzyme ceramidase that results in sphingolipids deposition.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Farber_disease

Muir-Torre syndrome
type: Class
subclass of: Lynch syndrome
IAO_0000115: A Lynch syndrome that is characterized by a propensity to develop cancers of the gastrointestinal tract, genitourinary tract, and skin that has_material_basis_in mutations in DNA mismatch repair genes.
has db xref: GARD:6821
has db xref: MESH:D055653
has db xref: MIM:158320
has db xref: NCI:C84905
has db xref: SNOMEDCT_US_2023_03_01:403824007
has db xref: UMLS_CUI:C1321489
has OBO namespace: disease_ontology
id: DOID:0050465
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Muir-Torre syndrome
annotated property: IAO_0000115
annotated target: A Lynch syndrome that is characterized by a propensity to develop cancers of the gastrointestinal tract, genitourinary tract, and skin that has_material_basis_in mutations in DNA mismatch repair genes.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Muir%E2%80%93Torre_syndrome

Loeys-Dietz syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects.
has db xref: GARD:10788
has db xref: MESH:D055947
has db xref: NCI:C75006
has db xref: ORDO:60030
has db xref: SNOMEDCT_US_2023_03_01:446263001
has db xref: UMLS_CUI:C1836635
has db xref: UMLS_CUI:C2697932
has OBO namespace: disease_ontology
id: DOID:0050466
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Loeys-Dietz syndrome
annotated property: IAO_0000115
annotated target: A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Loeys%E2%80%93Dietz_syndrome

erythrokeratodermia variabilis
type: Class
subclass of: skin disease
IAO_0000115: A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis.
has db xref: MESH:D056266
has db xref: MIM:PS133200
has db xref: NCI:C84696
has db xref: ORDO:317
has db xref: SNOMEDCT_US_2023_03_01:70041004
has db xref: UMLS_CUI:C0265961
has db xref: UMLS_CUI:C1851480
has exact synonym: Erythrokeratodermia Figurata Variabilis
has exact synonym: Greither Disease
has OBO namespace: disease_ontology
id: DOID:0050467
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: erythrokeratodermia variabilis
annotated property: IAO_0000115
annotated target: A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Erythrokeratodermia_variabilis

yellow nail syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome that is characterized by an accumulation of protein-rich fluid (lymph) in the soft layers of tissue under the skin resulting in pleural effusions, lymphedema (due to lymphatic hypoplasia) and yellow dystrophic nails hat lack a cuticle, grow slowly, and are loose or detached.
has db xref: GARD:184
has db xref: ICD10CM:L60.5
has db xref: MESH:D056684
has db xref: MIM:153300
has db xref: NCI:C85238
has db xref: SNOMEDCT_US_2023_03_01:400211001
has db xref: UMLS_CUI:C0221348
has OBO namespace: disease_ontology
id: DOID:0050468
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: yellow nail syndrome
annotated property: IAO_0000115
annotated target: A syndrome that is characterized by an accumulation of protein-rich fluid (lymph) in the soft layers of tissue under the skin resulting in pleural effusions, lymphedema (due to lymphatic hypoplasia) and yellow dystrophic nails hat lack a cuticle, grow slowly, and are loose or detached.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/28241848

Costello syndrome
type: Class
subclass of: syndrome
IAO_0000115: A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays.
has db xref: GARD:1550
has db xref: MESH:D056685
has db xref: MIM:218040
has db xref: NCI:C84652
has db xref: SNOMEDCT_US_2023_03_01:205803001
has db xref: UMLS_CUI:C0587248
has exact synonym: FCS SYNDROME
has exact synonym: Faciocutaneoskeletal Syndrome
has OBO namespace: disease_ontology
id: DOID:0050469
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Costello syndrome
annotated property: IAO_0000115
annotated target: A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/17250658
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/907573

Donohue syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome that is characterized by protuberant and low-set ears, flaring nostrils, thick lips, enlarged secondary sex organs and overwhelming insulin resistance and has_material_basis_in mutation within the INSR gene causing abnormalities in the insulin receptor.
has db xref: MESH:D056731
has db xref: MIM:246200
has db xref: NCI:C131000
has db xref: NCI:C84676
has db xref: ORDO:508
has db xref: SNOMEDCT_US_2023_03_01:111307005
has db xref: SNOMEDCT_US_2023_03_01:33559001
has db xref: UMLS_CUI:C0265344
has db xref: UMLS_CUI:C0271695
has exact synonym: Leprechaunism
has OBO namespace: disease_ontology
id: DOID:0050470
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Donohue syndrome
annotated property: IAO_0000115
annotated target: A syndrome that is characterized by protuberant and low-set ears, flaring nostrils, thick lips, enlarged secondary sex organs and overwhelming insulin resistance and has_material_basis_in mutation within the INSR gene causing abnormalities in the insulin receptor.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Donohue_syndrome

Carney complex
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity.
has db xref: GARD:1119
has db xref: MESH:D056733
has db xref: MIM:160980
has db xref: MIM:605244
has db xref: MIM:608837
has db xref: NCI:C4705
has db xref: ORDO:1359
has db xref: SNOMEDCT_US_2023_03_01:733491005
has db xref: UMLS_CUI:C0406810
has db xref: UMLS_CUI:C1854540
has db xref: UMLS_CUI:C2607929
has exact synonym: Carney Complex, Type 1
has exact synonym: Carney Complex, Type 2
has exact synonym: Carney Syndrome
has exact synonym: Carney complex variant
has exact synonym: LAMB Syndrome
has exact synonym: NAME Syndrome
has OBO namespace: disease_ontology
id: DOID:0050471
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Carney complex
annotated property: IAO_0000115
annotated target: A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Carney_complex
has db xref: url:http://ghr.nlm.nih.gov/condition/carney-complex

monilethrix
type: Class
subclass of: hair disease
IAO_0000115: A hair disease that is characterized by short, easily broken hair that results in alopecia and has_material_basis_in mutations in genes for type II hair cortex keratins.
has db xref: GARD:93
has db xref: ICD10CM:Q84.1
has db xref: MESH:D056734
has db xref: NCI:C84894
has db xref: SNOMEDCT_US_2023_03_01:69488000
has db xref: UMLS_CUI:C0546966
has OBO namespace: disease_ontology
id: DOID:0050472
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: monilethrix
annotated property: IAO_0000115
annotated target: A hair disease that is characterized by short, easily broken hair that results in alopecia and has_material_basis_in mutations in genes for type II hair cortex keratins.
type: ECO_0007637
has db xref: url:https://ghr.nlm.nih.gov/condition/monilethrix

Alstrom syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene.
has db xref: MESH:D056769
has db xref: MIM:203800
has db xref: NCI:C84549
has db xref: SNOMEDCT_US_2023_03_01:63702009
has db xref: UMLS_CUI:C0268425
has OBO namespace: disease_ontology
id: DOID:0050473
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Alstrom syndrome
annotated property: IAO_0000115
annotated target: A syndrome that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Alstrom_syndrome

Weill-Marchesani syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.
has db xref: GARD:4936
has db xref: MESH:D056846
has db xref: MIM:277600
has db xref: MIM:608328
has db xref: MIM:613195
has db xref: MIM:614819
has db xref: MIM:PS277600
has db xref: NCI:C85226
has db xref: ORDO:3449
has db xref: SNOMEDCT_US_2023_03_01:205801004
has db xref: UMLS_CUI:C0265313
has db xref: UMLS_CUI:C1869114
has db xref: UMLS_CUI:C1869115
has exact synonym: GEMSS syndrome
has exact synonym: Marchesani-Weill Syndrome
has exact synonym: Mesodermal Dysmorphodystrophy, Congenital
has exact synonym: Spherophakia Brachymorphia Syndrome
has exact synonym: congenital mesodermal dystrophy
has OBO namespace: disease_ontology
id: DOID:0050475
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: Weill-Marchesani syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Weill-Marchesani_syndrome
has db xref: url:http://ghr.nlm.nih.gov/condition/weill-marchesani-syndrome

Barth syndrome
type: Class
subclass of: DOID 9252
IAO_0000115: A 3-methylglutaconic aciduria that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin.
has db xref: GARD:5890
has db xref: ICD10CM:E78.71
has db xref: MESH:D056889
has db xref: MIM:302060
has db xref: NCI:C84585
has db xref: ORDO:111
has db xref: SNOMEDCT_US_2023_03_01:297231002
has db xref: UMLS_CUI:C0574083
has exact synonym: 3-methylglutaconicaciduria type 2
has exact synonym: 3-methylglutaconicaciduria type II
has exact synonym: MGA Type 2
has exact synonym: MGA type II
has OBO namespace: disease_ontology
id: DOID:0050476
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Barth syndrome
annotated property: IAO_0000115
annotated target: A 3-methylglutaconic aciduria that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin.
type: ECO_0007636
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Barth_syndrome
has db xref: url:http://www.ninds.nih.gov/disorders/barth/barth.htm

Liddle syndrome
type: Class
subclass of: DOID 557
IAO_0000115: A renal tubular transport disease that is characterized by hypertension and hypokalemia caused by dysregulation of epithelial sodium channels causing over expression of the channel.
has db xref: GARD:7381
has db xref: MESH:D056929
has db xref: MIM:177200
has db xref: NCI:C84827
has db xref: SNOMEDCT_US_2023_03_01:707749005
has db xref: UMLS_CUI:C0221043
has exact synonym: Liddle's syndrome
has exact synonym: Pseudoaldosteronism
has OBO namespace: disease_ontology
id: DOID:0050477
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Liddle syndrome
annotated property: IAO_0000115
annotated target: A renal tubular transport disease that is characterized by hypertension and hypokalemia caused by dysregulation of epithelial sodium channels causing over expression of the channel.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Liddle%27s_syndrome

exanthem
type: Class
subclass of: skin disease
IAO_0000115: A skin disease that is characterized by a rash that results from a variety of causes including bacteria, viruses, toxins, drugs and autoimmune disorders.
has db xref: ICD10CM:R21
has db xref: ICD9CM:782.1
has db xref: MESH:D005076
has db xref: NCI:C111884
has db xref: SNOMEDCT_US_2023_03_01:112625008
has db xref: UMLS_CUI:C0015230
has OBO namespace: disease_ontology
id: DOID:0050486
in subset: NCIthesaurus

Axiom
annotated source: exanthem
annotated property: IAO_0000115
annotated target: A skin disease that is characterized by a rash that results from a variety of causes including bacteria, viruses, toxins, drugs and autoimmune disorders.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Exanthem

exanthema subitum
type: Class
subclass of: DOID 934
IAO_0000115: A viral infectious disease that results_in infection in infants and children, located_in skin, has_material_basis_in Human betaherpesvirus 6B (Roseolovirus humanbeta6b) or 7 (Roseolovirus humanbeta7) and has_symptom sudden high fever, and has_symptom red rash that occurs first on the trunk then spreading to legs and neck.
has db xref: ICD10CM:B08.2
has db xref: ICD9CM:058.1
has db xref: MESH:D005077
has db xref: NCI:C128420
has db xref: SNOMEDCT_US_2023_03_01:54385001
has db xref: UMLS_CUI:C0015231
has exact synonym: Roseola Infantum
has exact synonym: Sixth Disease
has exact synonym: exanthem subitum
has OBO namespace: disease_ontology
id: DOID:0050495
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: exanthema subitum
annotated property: IAO_0000115
annotated target: A viral infectious disease that results_in infection in infants and children, located_in skin, has_material_basis_in Human betaherpesvirus 6B (Roseolovirus humanbeta6b) or 7 (Roseolovirus humanbeta7) and has_symptom sudden high fever, and has_symptom red rash that occurs first on the trunk then spreading to legs and neck.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Exanthema_subitum
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK448190/

adult T-cell leukemia/lymphoma
type: Class
subclass of: DOID 9952
IAO_0000115: A T-cell acute leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in human T-cell leukemia virus type 1 (Deltaretrovirus priTlym1), 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.
has db xref: GARD:13103
has db xref: ICD10CM:C91.5
has db xref: ICDO:9827/3
has db xref: MESH:D015459
has db xref: NCI:C3184
has db xref: SNOMEDCT_US_2023_03_01:77430005
has db xref: UMLS_CUI:C0023493
has exact synonym: ATLL
has exact synonym: Adult T-cell leukemia/lymphoma (HTLV-1 positive)
has exact synonym: adult T-cell leukemia
has OBO namespace: disease_ontology
id: DOID:0050523
in subset: DO cancer slim
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: adult T-cell leukemia/lymphoma
annotated property: IAO_0000115
annotated target: A T-cell acute leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in human T-cell leukemia virus type 1 (Deltaretrovirus priTlym1), 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.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Adult_T-cell_leukemia/lymphoma
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK558968/

Axiom
annotated source: adult T-cell leukemia/lymphoma
annotated property: hasExactSynonym
annotated target: ATLL
has synonym type: OMO_0003012

maturity-onset diabetes of the young
type: Class
subclass of: DOID 9351
IAO_0000115: A diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutations in the MODY genes impacting beta-cell function, typically occurring before 25 years of age and caused by primary insulin secretion defects.
has db xref: GARD:3697
has db xref: ICD10CM:E11.8
has db xref: KEGG:04950
has db xref: MESH:C562772
has db xref: MIM:PS125850
has db xref: NCI:C114769
has db xref: ORDO:552
has db xref: SNOMEDCT_US_2025_05_01:609561005
has db xref: UMLS_CUI:C0342276
has exact synonym: MODY
has exact synonym: Mason-type diabetes
has OBO namespace: disease_ontology
id: DOID:0050524
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
related match: ICD10CM:E11.8

Axiom
annotated source: maturity-onset diabetes of the young
annotated property: IAO_0000115
annotated target: A diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutations in the MODY genes impacting beta-cell function, typically occurring before 25 years of age and caused by primary insulin secretion defects.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Maturity_onset_diabetes_of_the_young

Axiom
annotated source: maturity-onset diabetes of the young
annotated property: hasExactSynonym
annotated target: MODY
has synonym type: OMO_0003012

intermediate spinal muscular atrophy
type: Class
subclass of: childhood spinal muscular atrophy
IAO_0000115: A childhood spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure, develops in children between the ages of 6 and 12 months and drastically reduces length of life, and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons.
has db xref: MESH:D014897
has db xref: MIM:253550
has db xref: NCI:C156310
has db xref: SNOMEDCT_US_2023_03_01:128212001
has db xref: UMLS_CUI:C0393538
has exact synonym: MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM
has exact synonym: MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE
has exact synonym: SMA II
has exact synonym: SMA2
has exact synonym: spinal muscular atrophy 2
has exact synonym: spinal muscular atrophy type II
has OBO namespace: disease_ontology
id: DOID:0050530
in subset: DO FlyBase slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: intermediate spinal muscular atrophy
annotated property: IAO_0000115
annotated target: A childhood spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure, develops in children between the ages of 6 and 12 months and drastically reduces length of life, and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons.
type: ECO_0007637
has db xref: url:https://rarediseases.info.nih.gov/diseases/4945/spinal-muscular-atrophy-type-2

Axiom
annotated source: intermediate spinal muscular atrophy
annotated property: hasExactSynonym
annotated target: SMA II
has synonym type: OMO_0003012

Axiom
annotated source: intermediate spinal muscular atrophy
annotated property: hasExactSynonym
annotated target: SMA2
has synonym type: OMO_0003012

West syndrome
type: Class
subclass of: epilepsy
IAO_0000115: An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability.
has db xref: GARD:7887
has db xref: MESH:D013036
has db xref: NCI:C84788
has db xref: ORDO:3451
has OBO namespace: disease_ontology
has related synonym: Infantile spasms syndrome
id: DOID:0050562
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: West syndrome
annotated property: IAO_0000115
annotated target: An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability.
type: ECO_0007636
type: ECO_0007645
has db xref: url:https://rarediseases.org/rare-diseases/west-syndrome/
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/24268986

inflammatory bowel disease
type: Class
subclass of: DOID 5295
IAO_0000115: An intestinal disease characterized by inflammation located in all parts of digestive tract.
has db xref: EFO:0003767
has db xref: KEGG:05321
has db xref: MESH:D015212
has db xref: MIM:PS266600
has db xref: NCI:C3138
has db xref: SNOMEDCT_US_2023_03_01:155759008
has db xref: UMLS_CUI:C0021390
has OBO namespace: disease_ontology
id: DOID:0050589
in subset: DO FlyBase slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: inflammatory bowel disease
annotated property: IAO_0000115
annotated target: An intestinal disease characterized by inflammation located in all parts of digestive tract.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Inflammatory_bowel_disease
has db xref: url:http://www.mayoclinic.org/diseases-conditions/inflammatory-bowel-disease/basics/definition/con-20034908

tooth agenesis
type: Class
subclass of: mouth disease
IAO_0000115: A tooth disease characterized by failure to develop one or more missing teeth.
has db xref: ICD10CM:K00.0
has db xref: ICD9CM:520.0
has db xref: MESH:D000848
has db xref: MIM:106600
has db xref: MIM:150400
has db xref: MIM:313500
has db xref: MIM:602639
has db xref: MIM:604625
has db xref: MIM:610926
has db xref: MIM:PS106600
has db xref: NCI:C172328
has db xref: ORDO:2227
has db xref: ORDO:99798
has db xref: SNOMEDCT_US_2023_03_01:234951001
has db xref: UMLS_CUI:C0399352
has exact synonym: familial tooth agenesis
has exact synonym: hypodontia
has exact synonym: oligodontia
has exact synonym: selective tooth agenesis
has OBO namespace: disease_ontology
id: DOID:0050591
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: tooth agenesis
annotated property: IAO_0000115
annotated target: A tooth disease characterized by failure to develop one or more missing teeth.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Hypodontia

intestinal schistosomiasis
type: Class
subclass of: DOID 883
IAO_0000115: A schistosomiasis that involves parasitic infection of the intestine caused by Schistosoma mansoni, Schistosoma intercalatum or Schistosomiasis japonicum. The symptoms include fever, cough, abdominal pain, diarrhea, hepatosplenomegaly, colonic polyposis with bloody diarrhea and eosinophilia.
has alternative id: DOID:13692
has alternative id: DOID:13721
has alternative id: DOID:3468
has db xref: ICD10CM:B65.1
has db xref: ICD10CM:B65.2
has db xref: ICD9CM:120.1
has db xref: ICD9CM:120.2
has db xref: MESH:D012554
has db xref: MESH:D012555
has db xref: MIM:181460
has db xref: NCI:C35001
has db xref: NCI:C35002
has db xref: NCI:C35364
has db xref: ORDO:1247
has db xref: SNOMEDCT_US_2023_03_01:187114003
has db xref: SNOMEDCT_US_2023_03_01:52179003
has db xref: SNOMEDCT_US_2023_03_01:750009
has db xref: UMLS_CUI:C0036329
has db xref: UMLS_CUI:C0036330
has db xref: UMLS_CUI:C0276932
has exact synonym: Katayama fever
has exact synonym: Schistosoma japonicum infection
has exact synonym: Schistosoma mansoni infectious disease
has exact synonym: schistosomiasis japonica
has OBO namespace: disease_ontology
id: DOID:0050597
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: intestinal schistosomiasis
annotated property: IAO_0000115
annotated target: A schistosomiasis that involves parasitic infection of the intestine caused by Schistosoma mansoni, Schistosoma intercalatum or Schistosomiasis japonicum. The symptoms include fever, cough, abdominal pain, diarrhea, hepatosplenomegaly, colonic polyposis with bloody diarrhea and eosinophilia.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Schistosomiasis

paranasal sinus cancer
type: Class
subclass of: cancer
IAO_0000115: A respiratory system cancer that is located_in the paranasal sinuses.
has alternative id: DOID:1354
has alternative id: DOID:2765
has alternative id: DOID:2767
has alternative id: DOID:4689
has db xref: MESH:D010255
has db xref: NCI:C6014
has db xref: NCI:C6017
has db xref: NCI:C6018
has db xref: NCI:C6019
has db xref: SNOMEDCT_US_2023_03_01:1255092002
has db xref: UMLS_CUI:C0854995
has db xref: UMLS_CUI:C1335336
has db xref: UMLS_CUI:C1335337
has db xref: UMLS_CUI:C1335340
has exact synonym: Mucoepidermoid carcinoma of Accessory sinus
has exact synonym: adenoid cystic carcinoma of Accessory sinus
has exact synonym: carcinoma of accessory sinus
has exact synonym: carcinoma of paranasal sinus
has exact synonym: paranasal sinus adenocarcinoma
has exact synonym: paranasal sinus adenoid cystic carcinoma
has exact synonym: paranasal sinus mucoepidermoid carcinoma
has OBO namespace: disease_ontology
has related synonym: adenoid cystic carcinoma of paranasal sinus
id: DOID:0050619
in subset: NCIthesaurus

Axiom
annotated source: paranasal sinus cancer
annotated property: IAO_0000115
annotated target: A respiratory system cancer that is located_in the paranasal sinuses.
type: ECO_0007637
has db xref: url:http://www.cancer.gov/cancertopics/pdq/treatment/paranasalsinus/Patient/page1

biliary tract benign neoplasm
type: Class
subclass of: hepatobiliary benign neoplasm
IAO_0000115: A hepatobiliary benign neoplasm located_in the biliary tract.
has alternative id: DOID:4609
has db xref: NCI:C4441
has db xref: SNOMEDCT_US_2023_03_01:126855001
has db xref: UMLS_CUI:C0345913
has exact synonym: extrahepatic bile duct neoplasm
has exact synonym: neoplasm of extrahepatic bile ducts
has exact synonym: tumor of the extrahepatic bile duct
has OBO namespace: disease_ontology
id: DOID:0050625
in subset: NCIthesaurus

Axiom
annotated source: biliary tract benign neoplasm
annotated property: IAO_0000115
annotated target: A hepatobiliary benign neoplasm located_in the biliary tract.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Hepatobiliary_system#Biliary_tract

atransferrinemia
type: Class
subclass of: DOID 655
IAO_0000115: A metal metabolism disorder that is characterized by transferrin deficiency, microcytic anemia, and iron loading, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the structural gene for transferrin (TF) on chromosome 3q22.
has db xref: GARD:9595
has db xref: MIM:209300
has db xref: NCI:C125693
has db xref: ORDO:1195
has exact synonym: familial hypotransferrinemia
has OBO namespace: disease_ontology
id: DOID:0050649
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: atransferrinemia
annotated property: IAO_0000115
annotated target: A metal metabolism disorder that is characterized by transferrin deficiency, microcytic anemia, and iron loading, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the structural gene for transferrin (TF) on chromosome 3q22.
type: ECO_0007636
type: ECO_0007638
type: ECO_0007645
has db xref: url:https://en.wikipedia.org/wiki/Atransferrinemia
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/29969719
has db xref: url:https://www.omim.org/entry/209300

Cowden syndrome 1
type: Class
subclass of: DOID 6457
IAO_0000115: A Cowden syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23.
has alternative id: DOID:0080191
has db xref: GARD:12800
has db xref: GARD:5887
has db xref: GARD:6901
has db xref: ICD10CM:Q85.81
has db xref: ICD10CM:Q87.89
has db xref: ICDO:9493/0
has db xref: MESH:D006223
has db xref: MESH:D016715
has db xref: MIM:158350
has db xref: NCI:C179915
has db xref: NCI:C179930
has db xref: NCI:C3939
has db xref: NCI:C8419
has db xref: ORDO:109
has db xref: ORDO:137608
has db xref: ORDO:306498
has db xref: ORDO:65285
has db xref: SNOMEDCT_US_2023_03_01:67944007
has db xref: SNOMEDCT_US_2025_03_01:716862002
has db xref: SNOMEDCT_US_2025_03_01:763867001
has db xref: SNOMEDCT_US_2025_05_01:722859001
has db xref: UMLS_CUI:C0391826
has db xref: UMLS_CUI:C1866398
has db xref: UMLS_CUI:C1959582
has db xref: UMLS_CUI:C4706610
has exact synonym: PHTS
has exact synonym: PTEN hamartoma tumor syndrome
has narrow synonym: BRRS
has narrow synonym: Bannayan-Riley-Ruvalcaba syndrome
has narrow synonym: Bannayan-Zonana syndrome
has narrow synonym: Lhermitte-Duclos disease
has narrow synonym: Proteus-like syndrome
has narrow synonym: Riley-Smith syndrome
has narrow synonym: Ruvalcaba-Myhre-Smith syndrome
has narrow synonym: SOLAMEN syndrome
has narrow synonym: dysplastic cerebellar gangliocytoma
has narrow synonym: dysplastic gangliocytoma of cerebellum
has narrow synonym: segmental overgrowth, lipomatosis, arteriovenous malformation, and epidermal nevus syndrome
has OBO namespace: disease_ontology
id: DOID:0050657
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].
narrow match: GARD:6901
narrow match: ICDO:9493/0
narrow match: NCI:C179930
narrow match: NCI:C8419
narrow match: ORDO:137608
narrow match: ORDO:65285
narrow match: UMLS_CUI:C0391826
narrow match: UMLS_CUI:C1866398
narrow match: UMLS_CUI:C4706610
related match: MESH:D016715

Axiom
annotated source: Cowden syndrome 1
annotated property: IAO_0000115
annotated target: A Cowden syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007645
type: ECO_0007646
has db xref: url:https://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK1488/
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/31062505

Axiom
annotated source: Cowden syndrome 1
annotated property: hasExactSynonym
annotated target: PHTS
has synonym type: OMO_0003012

Axiom
annotated source: Cowden syndrome 1
annotated property: hasNarrowSynonym
annotated target: BRRS
has synonym type: OMO_0003012

Bethlem myopathy
type: Class
subclass of: DOID 9884
IAO_0000115: A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly.
has db xref: GARD:873
has db xref: MESH:C535436
has db xref: MIM:PS158810
has db xref: NCI:C126688
has db xref: ORDO:610
has db xref: SNOMEDCT_US_2025_09_01:718572004
has db xref: UMLS_CUI:C1834674
has exact synonym: benign congenital muscular dystrophy
has OBO namespace: disease_ontology
id: DOID:0050663
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].
narrow match: ORDO:610
narrow match: UMLS_CUI:C1834674

Axiom
annotated source: Bethlem myopathy
annotated property: IAO_0000115
annotated target: A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly.
type: ECO_0007637
has db xref: url:https://rarediseases.info.nih.gov/diseases/873/bethlem-myopathy

Blau syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene.
has db xref: GARD:304
has db xref: MESH:C538157
has db xref: MIM:186580
has db xref: NCI:C116794
has exact synonym: ARTHROCUTANEOUVEAL GRANULOMATOSIS
has exact synonym: BLAUS
has exact synonym: Jabs syndrome
has OBO namespace: disease_ontology
id: DOID:0050678
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Blau syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene.
type: ECO_0007636
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Blau_syndrome
has db xref: url:http://www.omim.org/entry/186580?search=186580&highlight=186580

Axiom
annotated source: Blau syndrome
annotated property: hasExactSynonym
annotated target: BLAUS
has synonym type: OMO_0003012

Borjeson-Forssman-Lehmann syndrome
type: Class
subclass of: intellectual disability
IAO_0000115: An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene.
has db xref: GARD:936
has db xref: MESH:C536575
has db xref: MIM:301900
has db xref: NCI:C157122
has db xref: ORDO:127
has db xref: SNOMEDCT_US_2023_03_01:21634003
has db xref: UMLS_CUI:C0265339
has exact synonym: BFLS
has exact synonym: BORJ
has exact synonym: Borjeson syndrome
has exact synonym: MRXSBFL
has exact synonym: intellectual deficiency-epilepsy-endocrine disorders syndrome
has exact synonym: mental retardation, epilepsy, and endocrine disorder
has exact synonym: syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type
has OBO namespace: disease_ontology
id: DOID:0050681
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Borjeson-Forssman-Lehmann syndrome
annotated property: IAO_0000115
annotated target: An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene.
type: ECO_0007645
has db xref: url:http://www.nature.com/ejhg/journal/v14/n12/full/5201639a.html

Axiom
annotated source: Borjeson-Forssman-Lehmann syndrome
annotated property: hasExactSynonym
annotated target: BFLS
has synonym type: OMO_0003012

Axiom
annotated source: Borjeson-Forssman-Lehmann syndrome
annotated property: hasExactSynonym
annotated target: BORJ
has synonym type: OMO_0003012

Axiom
annotated source: Borjeson-Forssman-Lehmann syndrome
annotated property: hasExactSynonym
annotated target: MRXSBFL
has synonym type: OMO_0003012

small cell carcinoma
type: Class
subclass of: carcinoma
IAO_0000115: A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells.
creation date: 2011-06-13T01:25:14Z
has alternative id: DOID:7137
has db xref: ICDO:8041/3
has db xref: NCI:C4099
has db xref: SNOMEDCT_US_2023_03_01:5958006
has db xref: UMLS_CUI:C0334239
has exact synonym: Small cell carcinoma - intermediate cell
has exact synonym: Small cell carcinoma, intermediate cell
has exact synonym: intermediate cell small cell carcinoma
has OBO namespace: disease_ontology
id: DOID:0050685
in subset: NCIthesaurus

Axiom
annotated source: small cell carcinoma
annotated property: IAO_0000115
annotated target: A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Small_cell_carcinoma

Dent disease
type: Class
subclass of: DOID 557
IAO_0000115: A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure.
creation date: 2015-03-12T14:32:47Z
has db xref: GARD:13105
has db xref: MESH:D057973
has db xref: MIM:PS300009
has db xref: NCI:C123260
has db xref: ORDO:1652
has db xref: SNOMEDCT_US_2023_03_01:444645005
has db xref: UMLS_CUI:C0878681
has exact synonym: Dent's disease
has exact synonym: X-linked hypercalciuric nephrocalcinosis
has OBO namespace: disease_ontology
id: DOID:0050699
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Dent disease
annotated property: IAO_0000115
annotated target: A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Dent%27s_disease
has db xref: url:http://ghr.nlm.nih.gov/condition/dent-disease
has db xref: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1652
has db xref: url:https://www.dentdisease.org/

cardiomyopathy
type: Class
subclass of: heart disease
IAO_0000115: A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.
creation date: 2012-01-03T02:54:11Z
has db xref: ICD10CM:I42
has db xref: ICD9CM:425
has db xref: ICD9CM:425.9
has db xref: MESH:D009202
has db xref: NCI:C34830
has db xref: NCI:C53654
has db xref: SNOMEDCT_US_2023_03_01:266301006
has db xref: SNOMEDCT_US_2023_03_01:89461002
has db xref: SNOMEDCT_US_2023_03_01:89600009
has db xref: UMLS_CUI:C0033141
has db xref: UMLS_CUI:C0036529
has db xref: UMLS_CUI:C0878544
has exact synonym: Cardiomyopathies
has OBO namespace: disease_ontology
id: DOID:0050700
in subset: DO FlyBase slim
in subset: DO RAD slim
in subset: NCIthesaurus
comment: MESH:D009202 added from NeuroDevNet [WAK].

Axiom
annotated source: cardiomyopathy
annotated property: IAO_0000115
annotated target: A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Cardiomyopathy
has db xref: url:http://www.nhlbi.nih.gov/health/health-topics/topics/cm/

nicotine dependence
type: Class
subclass of: DOID 9973
IAO_0000115: A substance dependence that is characterized by a physical dependence on nicotine.
creation date: 2012-09-05T11:48:42Z
has db xref: EFO:0003768
has db xref: ICD10CM:F17
has db xref: MESH:D014029
has db xref: NCI:C54203
has db xref: SNOMEDCT_US_2023_03_01:56294008
has db xref: UMLS_CUI:C0028043
has exact synonym: tobacco use disorder
has OBO namespace: disease_ontology
id: DOID:0050742
in subset: NCIthesaurus

Axiom
annotated source: nicotine dependence
annotated property: IAO_0000115
annotated target: A substance dependence that is characterized by a physical dependence on nicotine.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Nicotine_dependence

anaplastic large cell lymphoma
type: Class
subclass of: non-Hodgkin lymphoma
IAO_0000115: A non-Hodgkin lymphoma involving aberrant T-cells.
creation date: 2012-09-18T01:57:40Z
has db xref: ICDO:9714/3
has db xref: NCI:C3720
has OBO namespace: disease_ontology
id: DOID:0050744
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: anaplastic large cell lymphoma
annotated property: IAO_0000115
annotated target: A non-Hodgkin lymphoma involving aberrant T-cells.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Anaplastic_large-cell_lymphoma#Epidemiology

diffuse large B-cell lymphoma
type: Class
subclass of: DOID 707
IAO_0000115: A large B-cell lymphoma that is consisting of medium-sized to large B cells with a diffuse growth pattern.
creation date: 2012-09-18T01:58:25Z
has db xref: GARD:3178
has db xref: ICD11:2A81.Z
has db xref: ICDO:9680/3
has db xref: MESH:D016403
has db xref: NCI:C80280
has exact synonym: DLBCL
has OBO namespace: disease_ontology
id: DOID:0050745
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: diffuse large B-cell lymphoma
annotated property: IAO_0000115
annotated target: A large B-cell lymphoma that is consisting of medium-sized to large B cells with a diffuse growth pattern.
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/Diffuse_large_B-cell_lymphoma
has db xref: url:https://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C148392
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/28487884

Axiom
annotated source: diffuse large B-cell lymphoma
annotated property: hasExactSynonym
annotated target: DLBCL
has synonym type: OMO_0003012

splenic marginal zone lymphoma
type: Class
subclass of: DOID 707
IAO_0000115: A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp.
creation date: 2012-09-18T02:03:06Z
has db xref: NCI:C4663
has OBO namespace: disease_ontology
id: DOID:0050750
in subset: NCIthesaurus

Axiom
annotated source: splenic marginal zone lymphoma
annotated property: IAO_0000115
annotated target: A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Splenic_marginal_zone_lymphoma

T-cell large granular lymphocyte leukemia
type: Class
subclass of: DOID 9952
IAO_0000115: A T-cell acute lymphocytic leukemia that exhibits an unexplained, chronic (greater than 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood.
creation date: 2012-09-18T02:05:41Z
has db xref: ICDO:9831/3
has db xref: NCI:C4664
has exact synonym: Large granular lymphocytic leukaemia
has exact synonym: Large granular lymphocytic leukemia
has exact synonym: T-cell large granular lymphocyte leukaemia
has OBO namespace: disease_ontology
id: DOID:0050751
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: T-cell large granular lymphocyte leukemia
annotated property: IAO_0000115
annotated target: A T-cell acute lymphocytic leukemia that exhibits an unexplained, chronic (greater than 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/T-cell_large_granular_lymphocyte_leukemia

myotonic dystrophy type 2
type: Class
subclass of: DOID 450
IAO_0000115: A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_material_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one.
creation date: 2013-01-16T01:27:31Z
has db xref: GARD:9728
has db xref: ICD10CM:G71.1
has db xref: ICD9CM:359.2
has db xref: MESH:D020967
has db xref: MIM:602668
has db xref: NCI:C84913
has db xref: ORDO:606
has db xref: SNOMEDCT_US_2023_03_01:155096007
has db xref: UMLS_CUI:C0553604
has OBO namespace: disease_ontology
id: DOID:0050759
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: myotonic dystrophy type 2
annotated property: IAO_0000115
annotated target: A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_material_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one.
type: ECO_0007636
type: ECO_0007646
has db xref: url:http://ghr.nlm.nih.gov/condition/myotonic-dystrophy
has db xref: url:http://www.ncbi.nlm.nih.gov/books/NBK1466/

choreaacanthocytosis
type: Class
subclass of: neurodegenerative disease
IAO_0000115: A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21.
creation date: 2013-01-17T12:54:19Z
has db xref: GARD:3956
has db xref: MESH:D054546
has db xref: MIM:200150
has db xref: NCI:C84926
has db xref: ORDO:2388
has db xref: SNOMEDCT_US_2023_03_01:26848004
has db xref: UMLS_CUI:C0393576
has exact synonym: Levine-Critchley syndrome
has exact synonym: choreo-acanthocytosis
has OBO namespace: disease_ontology
id: DOID:0050766
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: choreaacanthocytosis
annotated property: IAO_0000115
annotated target: A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007645
has db xref: url:https://en.wikipedia.org/wiki/Chorea_acanthocytosis
has db xref: url:https://ghr.nlm.nih.gov/condition/chorea-acanthocytosis
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/9382101

paraganglioma
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A pheochromocytoma that arises in extraadrenal sympathetic ganglia.
creation date: 2013-02-21T11:51:57Z
has db xref: ICDO:8680/3
has db xref: MESH:D010235
has db xref: MIM:PS168000
has db xref: NCI:C3308
has db xref: SNOMEDCT_US_2023_03_01:302833002
has db xref: UMLS_CUI:C0030421
has exact synonym: chemodectoma
has exact synonym: glomus body tumor
has OBO namespace: disease_ontology
id: DOID:0050773
in subset: DO cancer slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: paraganglioma
annotated property: IAO_0000115
annotated target: A pheochromocytoma that arises in extraadrenal sympathetic ganglia.
type: ECO_0007637
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Paraganglioma
has db xref: url:https://ghr.nlm.nih.gov/condition/hereditary-paraganglioma-pheochromocytoma

Zollinger-Ellison syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome that is characterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach.
creation date: 2013-10-23T12:51:49Z
has db xref: GARD:7918
has db xref: ICD10CM:E16.4
has db xref: MESH:D015043
has db xref: NCI:C3453
has db xref: SNOMEDCT_US_2023_03_01:267477002
has db xref: UMLS_CUI:C0043515
has OBO namespace: disease_ontology
id: DOID:0050782
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Zollinger-Ellison syndrome
annotated property: IAO_0000115
annotated target: A syndrome that is characterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach.
type: ECO_0007636
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Zollinger-Ellison_Syndrome
has db xref: url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/360/viewAbstract
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/28949124
has db xref: url:https://www.niddk.nih.gov/health-information/digestive-diseases/zollinger-ellison-syndrome

persistent Mullerian duct syndrome
type: Class
subclass of: pseudohermaphroditism
IAO_0000115: A pseudohermaphroditism that is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male.
creation date: 2013-11-12T12:26:49Z
has db xref: GARD:8435
has db xref: MESH:C536665
has db xref: MIM:261550
has db xref: NCI:C120188
has db xref: SNOMEDCT_US_2023_03_01:702358005
has db xref: UMLS_CUI:C1849930
has exact synonym: persistent Muellerian duct syndrome
has OBO namespace: disease_ontology
id: DOID:0050791
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: persistent Mullerian duct syndrome
annotated property: IAO_0000115
annotated target: A pseudohermaphroditism that is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007645
has db xref: url:http://ghr.nlm.nih.gov/condition/persistent-mullerian-duct-syndrome
has db xref: url:http://omim.org/entry/261550?search=261550&highlight=261550
has db xref: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2856
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/20352001

peroxisomal acyl-CoA oxidase deficiency
type: Class
subclass of: DOID 906
IAO_0000115: A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy that has_material_basis_in homozygous mutation in the ACOX1 gene on chromosome 17q25.1.
creation date: 2013-11-21T10:47:41Z
has db xref: GARD:4543
has db xref: MESH:C536662
has db xref: MIM:264470
has db xref: NCI:C170437
has db xref: ORDO:2971
has db xref: SNOMEDCT_US_2023_03_01:238069004
has db xref: UMLS_CUI:C1849678
has exact synonym: Peroxisomal acyl-coenzyme A oxidase
has OBO namespace: disease_ontology
id: DOID:0050797
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: peroxisomal acyl-CoA oxidase deficiency
annotated property: IAO_0000115
annotated target: A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy that has_material_basis_in homozygous mutation in the ACOX1 gene on chromosome 17q25.1.
type: ECO_0007636
type: ECO_0007645
has db xref: url:http://www.omim.org/entry/264470
has db xref: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2971
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/11815777
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/17458872
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/18536048

atrioventricular block
type: Class
subclass of: heart disease
IAO_0000115: A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart.
creation date: 2014-02-12T01:35:05Z
has db xref: ICD10CM:I44.3
has db xref: ICD9CM:426.10
has db xref: MESH:D054537
has db xref: NCI:C26703
has db xref: SNOMEDCT_US_2023_03_01:58547007
has db xref: UMLS_CUI:C0004245
has exact synonym: AV block
has OBO namespace: disease_ontology
id: DOID:0050820
in subset: NCIthesaurus

Axiom
annotated source: atrioventricular block
annotated property: IAO_0000115
annotated target: A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Atrioventricular_block

CHARGE syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina.
creation date: 2014-03-18T11:58:38Z
has db xref: GARD:29
has db xref: MESH:D058747
has db xref: MIM:214800
has db xref: NCI:C75100
has db xref: ORDO:138
has db xref: SNOMEDCT_US_2023_03_01:47535005
has db xref: UMLS_CUI:C0265354
has db xref: UMLS_CUI:C2936502
has exact synonym: CHARGE association
has OBO namespace: disease_ontology
id: DOID:0050834
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: CHARGE syndrome
annotated property: IAO_0000115
annotated target: A syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/CHARGE_syndrome
has db xref: url:http://ghr.nlm.nih.gov/condition/charge-syndrome
has db xref: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=138
has db xref: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/550/viewAbstract

generalized dystonia
type: Class
subclass of: DOID 543
IAO_0000115: A dystonia that affects most or all of the body.
creation date: 2014-03-18T01:13:36Z
has alternative id: DOID:11910
has alternative id: DOID:11911
has alternative id: DOID:11912
has alternative id: DOID:14164
has alternative id: DOID:5159
has alternative id: DOID:531
has db xref: ICD10CM:G24.1
has db xref: ICD10CM:G24.2
has db xref: ICD9CM:333.6
has db xref: ICD9CM:333.8
has db xref: MESH:D004422
has db xref: MESH:D020821
has db xref: NCI:C34564
has db xref: NCI:C35437
has db xref: NCI:C35438
has db xref: NCI:C35527
has db xref: SNOMEDCT_US_2023_03_01:192852006
has db xref: SNOMEDCT_US_2023_03_01:192859002
has db xref: SNOMEDCT_US_2023_03_01:22451001
has db xref: SNOMEDCT_US_2023_03_01:230321007
has db xref: SNOMEDCT_US_2023_03_01:267584007
has db xref: UMLS_CUI:C0013423
has db xref: UMLS_CUI:C0154674
has db xref: UMLS_CUI:C0154675
has db xref: UMLS_CUI:C0393598
has db xref: UMLS_CUI:C0393601
has db xref: UMLS_CUI:C0752207
has exact synonym: familial dystonia
has exact synonym: fragments of torsion dystonia
has OBO namespace: disease_ontology
has related synonym: Dystonia 12
id: DOID:0050835
in subset: DO FlyBase slim
in subset: NCIthesaurus
comment: MESH:C538001 added from NeuroDevNet [WAK].

Axiom
annotated source: generalized dystonia
annotated property: IAO_0000115
annotated target: A dystonia that affects most or all of the body.
type: ECO_0007637
has db xref: url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm

Axiom
annotated source: generalized dystonia
annotated property: hasRelatedSynonym
annotated target: Dystonia 12
has db xref: MESH:C538001

sleep apnea
type: Class
subclass of: disease of mental health
IAO_0000115: A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep.
creation date: 2014-03-20T03:57:22Z
has db xref: ICD10CM:G47.3
has db xref: ICD9CM:780.57
has db xref: MESH:D012891
has db xref: NCI:C26884
has db xref: SNOMEDCT_US_2023_03_01:206750008
has db xref: UMLS_CUI:C0037315
has OBO namespace: disease_ontology
id: DOID:0050847
in subset: NCIthesaurus

Axiom
annotated source: sleep apnea
annotated property: IAO_0000115
annotated target: A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep.
type: ECO_0007637
type: ECO_0007645
has db xref: url:http://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286
has db xref: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2765300/
has db xref: url:http://www.nhlbi.nih.gov/health/health-topics/topics/sleepapnea/

obstructive sleep apnea
type: Class
subclass of: sleep apnea
IAO_0000115: A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.
creation date: 2014-03-20T03:57:22Z
has db xref: ICD10CM:G47.33
has db xref: ICD9CM:327.23
has db xref: MESH:D020181
has db xref: MIM:107650
has db xref: NCI:C116337
has db xref: SNOMEDCT_US_2023_03_01:194441007
has db xref: UMLS_CUI:C0520679
has exact synonym: obstructive sleep apnea syndrome
has OBO namespace: disease_ontology
id: DOID:0050848
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: obstructive sleep apnea
annotated property: IAO_0000115
annotated target: A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007640
type: ECO_0007646
has db xref: url:http://en.wikipedia.org/wiki/Obstructive_sleep_apnea
has db xref: url:http://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/000811.htm
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK63555/#executivesummary.s1

Muckle-Wells syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44.
creation date: 2014-04-15T03:53:41Z
has db xref: GARD:8472
has db xref: ICD10CM:M04.2
has db xref: MEDDRA:10064569
has db xref: MESH:D056587
has db xref: MIM:191900
has db xref: NCI:C119054
has db xref: ORDO:575
has db xref: SNOMEDCT_US_2023_03_01:15123008
has db xref: UMLS_CUI:C0268390
has exact synonym: MWS
has exact synonym: neutrophilic urticaria
has OBO namespace: disease_ontology
id: DOID:0050854
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Muckle-Wells syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/11687797
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/11992256

Axiom
annotated source: Muckle-Wells syndrome
annotated property: hasExactSynonym
annotated target: MWS
has synonym type: OMO_0003012

colorectal adenocarcinoma
type: Class
subclass of: colorectal carcinoma
IAO_0000115: A colorectal carcinoma that derives_from epithelial cells of glandular origin.
creation date: 2014-05-05T03:16:55Z
has db xref: NCI:C5105
has db xref: SNOMEDCT_US_2023_03_01:408645001
has db xref: UMLS_CUI:C1319315
has OBO namespace: disease_ontology
id: DOID:0050861
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: colorectal adenocarcinoma
annotated property: IAO_0000115
annotated target: A colorectal carcinoma that derives_from epithelial cells of glandular origin.
type: ECO_0007638
has db xref: url:http://cancergenome.nih.gov/cancersselected/colorectaladenocarcinoma
has db xref: url:http://en.wikipedia.org/wiki/Adenocarcinoma

tongue squamous cell carcinoma
type: Class
subclass of: DOID 5520
IAO_0000115: A head and neck squamous cell carcinoma that is located_in the tongue.
creation date: 2014-05-12T02:38:44Z
has db xref: NCI:C4648
has db xref: SNOMEDCT_US_2023_03_01:276952000
has db xref: UMLS_CUI:C0349566
has OBO namespace: disease_ontology
id: DOID:0050865
in subset: NCIthesaurus

Axiom
annotated source: tongue squamous cell carcinoma
annotated property: IAO_0000115
annotated target: A head and neck squamous cell carcinoma that is located_in the tongue.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Squamous_cell_carcinoma

Caroli disease
type: Class
subclass of: bile duct disease
IAO_0000115: A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts.
creation date: 2014-07-09T01:28:09Z
has db xref: GARD:6002
has db xref: MESH:D016767
has db xref: NCI:C84619
has db xref: SNOMEDCT_US_2023_03_01:717232005
has db xref: UMLS_CUI:C0162510
has OBO namespace: disease_ontology
id: DOID:0050876
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Caroli disease
annotated property: IAO_0000115
annotated target: A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts.
type: ECO_0007636
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Caroli_disease
has db xref: url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/606/viewAbstract

medulloblastoma
type: Class
subclass of: DOID 4706
IAO_0000115: An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor.
creation date: 2014-10-06T14:36:37Z
has alternative id: DOID:0060105
has alternative id: DOID:168
has alternative id: DOID:3858
has alternative id: DOID:4981
has db xref: GARD:7005
has db xref: ICDO:9470/3
has db xref: MESH:D008527
has db xref: MESH:D018242
has db xref: MIM:155255
has db xref: NCI:C27294
has db xref: NCI:C3222
has db xref: NCI:C3716
has db xref: ORDO:616
has db xref: SNOMEDCT_US_2023_03_01:189925001
has db xref: SNOMEDCT_US_2023_03_01:443333004
has db xref: UMLS_CUI:C0025149
has db xref: UMLS_CUI:C0206663
has db xref: UMLS_CUI:C1334410
has exact synonym: CNS PNET
has exact synonym: CPNET
has exact synonym: Medulloblastoma, histologically defined
has exact synonym: brain medulloblastoma
has exact synonym: infratentorial primitive neuroectodermal tumor
has exact synonym: localized primitive neuroectodermal tumor
has OBO namespace: disease_ontology
id: DOID:0050902
in subset: DO RAD slim
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: medulloblastoma
annotated property: IAO_0000115
annotated target: An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007641
has db xref: url:http://en.wikipedia.org/wiki/Medulloblastoma
has db xref: url:http://www.cancer.gov/dictionary?CdrID=45780
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3306779/

Axiom
annotated source: medulloblastoma
annotated property: hasExactSynonym
annotated target: CNS PNET
has synonym type: OMO_0003012

Axiom
annotated source: medulloblastoma
annotated property: hasExactSynonym
annotated target: CPNET
has synonym type: OMO_0003012

extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue
type: Class
subclass of: DOID 707
IAO_0000115: A marginal zone B-cell lymphoma that has_material_basis_in mucosal tissue involved in antibody production.
creation date: 2014-10-13T14:17:40Z
has db xref: ICDO:9699/3
has db xref: MIM:137245
has db xref: NCI:C3898
has exact synonym: MALT lymphoma
has exact synonym: MALT lymphoma of the dura
has exact synonym: mucosa-associated lymphoid tissue lymphoma
has OBO namespace: disease_ontology
id: DOID:0050909
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue
annotated property: IAO_0000115
annotated target: A marginal zone B-cell lymphoma that has_material_basis_in mucosal tissue involved in antibody production.
type: ECO_0007637
type: ECO_0007641
has db xref: url:http://www.cancer.gov/dictionary?CdrID=45774
has db xref: url:http://www.cancerresearchuk.org/about-cancer/non-hodgkin-lymphoma/types/malt

rectal adenoma
type: Class
subclass of: rectal benign neoplasm
IAO_0000115: An rectal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin.
creation date: 2014-10-13T15:09:51Z
has db xref: NCI:C5546
has exact synonym: rectum adenoma
has OBO namespace: disease_ontology
id: DOID:0050915
in subset: NCIthesaurus

Axiom
annotated source: rectal adenoma
annotated property: IAO_0000115
annotated target: An rectal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Adenoma

breast lobular carcinoma
type: Class
subclass of: breast carcinoma
IAO_0000115: A breast carcinoma that derives_from breast lobules (milk glands).
creation date: 2014-10-22T13:05:34Z
has db xref: ICDO:8520/3
has db xref: NCI:C3771
has OBO namespace: disease_ontology
id: DOID:0050938
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: breast lobular carcinoma
annotated property: IAO_0000115
annotated target: A breast carcinoma that derives_from breast lobules (milk glands).
type: ECO_0007637
type: ECO_0007641
has db xref: url:http://cancergenome.nih.gov/cancersselected/breastlobular
has db xref: url:http://www.cancer.gov/dictionary?CdrID=426416

coarctation of the aorta
type: Class
subclass of: congenital heart disease
IAO_0000115: A congenital heart disease that is characterized by the luminal narrowing of the thoracic aortic arch, typically located just beyond the left subclavian artery. This narrowing creates an obstruction that can lead to significant cardiovascular complications, including systemic hypertension, left ventricular hypertrophy, and eventually heart failure.
has db xref: MESH:D001017
has db xref: MIM:120000
has db xref: NCI:C84567
has OBO namespace: disease_ontology
id: DOID:0051054
in subset: NCIthesaurus

Axiom
annotated source: coarctation of the aorta
annotated property: IAO_0000115
annotated target: A congenital heart disease that is characterized by the luminal narrowing of the thoracic aortic arch, typically located just beyond the left subclavian artery. This narrowing creates an obstruction that can lead to significant cardiovascular complications, including systemic hypertension, left ventricular hypertrophy, and eventually heart failure.
has db xref: url:https://medlineplus.gov/ency/article/000191.htm
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/38416090/
has db xref: url:https://www.annalsthoracicsurgery.org/article/S0003-4975(24)00077-8/fulltext
has db xref: url:https://www.mayoclinic.org/diseases-conditions/coarctation-of-the-aorta/symptoms-causes/syc-20352529
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK430913/
has db xref: url:https://www.nyp.org/pediatrics/heart/coarctation-of-aorta

X-linked severe combined immunodeficiency
type: Class
subclass of: DOID 627
IAO_0000115: A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in 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.
has alternative id: DOID:5811
has db xref: GARD:5618
has db xref: MESH:D053632
has db xref: MIM:300400
has db xref: NCI:C4682
has db xref: SNOMEDCT_US_2023_03_01:203592006
has db xref: UMLS_CUI:C1279481
has exact synonym: SCID-X1
has exact synonym: XSCID
has exact synonym: gamma chain deficiency
has exact synonym: thymic epithelial hypoplasia
has OBO namespace: disease_ontology
id: DOID:0060013
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: X-linked severe combined immunodeficiency
annotated property: IAO_0000115
annotated target: A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in 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.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Severe_combined_immunodeficiency
has db xref: url:https://ghr.nlm.nih.gov/condition/x-linked-severe-combined-immunodeficiency#synonyms

Axiom
annotated source: X-linked severe combined immunodeficiency
annotated property: hasExactSynonym
annotated target: SCID-X1
has synonym type: OMO_0003012

Axiom
annotated source: X-linked severe combined immunodeficiency
annotated property: hasExactSynonym
annotated target: XSCID
has synonym type: OMO_0003012

reticular dysgenesis
type: Class
subclass of: DOID 627
IAO_0000115: A severe combined immunodeficiency that is the most severe form of SCID and has_material_basis_in mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions.
has alternative id: DOID:1226
has db xref: GARD:8625
has db xref: MESH:C538361
has db xref: MIM:267500
has db xref: NCI:C27070
has db xref: SNOMEDCT_US_2023_03_01:111584000
has db xref: UMLS_CUI:C0272167
has exact synonym: De Vaal disease
has OBO namespace: disease_ontology
has related synonym: aleukocytosis
id: DOID:0060020
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: reticular dysgenesis
annotated property: IAO_0000115
annotated target: A severe combined immunodeficiency that is the most severe form of SCID and has_material_basis_in mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions.
type: ECO_0007636
has db xref: url:http://www.ncbi.nlm.nih.gov/gene/11151?ordinalpos=2&itool=EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVDocSum
has db xref: url:http://www.ncbi.nlm.nih.gov/gene/204?

immunodeficiency with hyper IgM type 3
type: Class
subclass of: hyper IgM syndrome
IAO_0000115: A hyper IgM syndrome that has_material_basis_in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency that is 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.
has db xref: GARD:10579
has db xref: MIM:606843
has db xref: NCI:C176416
has db xref: ORDO:101090
has db xref: UMLS_CUI:C1720957
has exact synonym: CD40 deficiency
has exact synonym: HIGM3
has exact synonym: hyper-IgM syndrome due to CD40 deficiency
has exact synonym: type 3 hyper-IgM immunodeficiency
has OBO namespace: disease_ontology
id: DOID:0060023
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: immunodeficiency with hyper IgM type 3
annotated property: IAO_0000115
annotated target: A hyper IgM syndrome that has_material_basis_in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency that is 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.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/11675497

Axiom
annotated source: immunodeficiency with hyper IgM type 3
annotated property: hasExactSynonym
annotated target: HIGM3
has synonym type: OMO_0003012

popliteal pterygium syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It has_material_basis_in mutations in the IRF6 gene on chromosome 1.
creation date: 2015-02-04T14:16:39Z
has db xref: GARD:3242
has db xref: MESH:C562509
has db xref: MIM:119500
has db xref: MIM:263650
has db xref: NCI:C118786
has db xref: ORDO:1300
has db xref: ORDO:294963
has db xref: SNOMEDCT_US_2023_03_01:205820002
has db xref: UMLS_CUI:C0265259
has exact synonym: facio-genito-popliteal syndrome
has exact synonym: popliteal web syndrome
has OBO namespace: disease_ontology
id: DOID:0060055
in subset: DO rare slim
in subset: NCIthesaurus
comment: NT MGI.

Axiom
annotated source: popliteal pterygium syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It has_material_basis_in mutations in the IRF6 gene on chromosome 1.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://ghr.nlm.nih.gov/condition/popliteal-pterygium-syndrome
has db xref: url:https://en.wikipedia.org/wiki/Popliteal_pterygium_syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/2352260
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/4384166

lymphoma
type: Class
subclass of: hematologic cancer
IAO_0000115: A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.
has alternative id: DOID:1033
has alternative id: DOID:353
has db xref: ICD10CM:C85.9
has db xref: ICDO:9590/3
has db xref: MESH:D008223
has db xref: NCI:C3208
has db xref: NCI:C7065
has db xref: SNOMEDCT_US_2023_03_01:118600007
has db xref: SNOMEDCT_US_2023_03_01:414628006
has db xref: UMLS_CUI:C0024299
has db xref: UMLS_CUI:C0598798
has exact synonym: lymphoid cancer
has OBO namespace: disease_ontology
id: DOID:0060058
in subset: DO RAD slim
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: lymphoma
annotated property: IAO_0000115
annotated target: A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.
type: ECO_0007638
type: ECO_0007644
has db xref: url:http://en.wikipedia.org/wiki/Lymphoma
has db xref: url:http://www.nlm.nih.gov/medlineplus/lymphoma.html

non-Hodgkin lymphoma
type: Class
subclass of: lymphoma
IAO_0000115: A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma.
has db xref: ICD10CM:C85.9
has db xref: ICDO:9591/3
has db xref: MESH:D008228
has db xref: MIM:605027
has db xref: NCI:C3211
has db xref: ORDO:547
has db xref: SNOMEDCT_US_2023_03_01:118601006
has db xref: UMLS_CUI:C0024305
has OBO namespace: disease_ontology
id: DOID:0060060
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: non-Hodgkin lymphoma
annotated property: IAO_0000115
annotated target: A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007641
has db xref: url:http://en.wikipedia.org/wiki/Non-Hodgkin_lymphoma
has db xref: url:http://www.cancer.gov/dictionary?CdrID=45148

primary cutaneous T-cell non-Hodgkin lymphoma
type: Class
subclass of: T-cell non-Hodgkin lymphoma
IAO_0000115: A peripheral T-cell lymphoma that has_material_basis_in a mutation of T cells.
has db xref: GARD:6226
has db xref: MESH:D016410
has db xref: NCI:C3467
has exact synonym: cutaneous T cell lymphoma
has exact synonym: cutaneous T-cell lymphoma
has OBO namespace: disease_ontology
id: DOID:0060061
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: primary cutaneous T-cell non-Hodgkin lymphoma
annotated property: IAO_0000115
annotated target: A peripheral T-cell lymphoma that has_material_basis_in a mutation of T cells.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Cutaneous_T-cell_lymphoma

organ system benign neoplasm
type: Class
subclass of: disease
IAO_0000115: A benign neoplasm that is classified by the organ system from which it is arising from.
creation date: 2011-07-14T12:12:23Z
has db xref: NCI:C3677
has OBO namespace: disease_ontology
id: DOID:0060085
in subset: DO FlyBase slim
in subset: NCIthesaurus

Axiom
annotated source: organ system benign neoplasm
annotated property: IAO_0000115
annotated target: A benign neoplasm that is classified by the organ system from which it is arising from.
type: ECO_0007636
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3677

central nervous system embryonal tumor
type: Class
subclass of: central nervous system cancer
IAO_0000115: A central nervous system cancer of children and young adults that develops from neural crest cells located_in cerebrum, has_material_basis_in abnormally proliferating cells derives_from neuroectoderm.
creation date: 2011-07-21T02:24:10Z
has db xref: ICDO:9473/3
has db xref: NCI:C5398
has exact synonym: CNS embryonal tumour, NEC/NOS
has exact synonym: central nervous system primitive neuroectodermal neoplasm
has OBO namespace: disease_ontology
id: DOID:0060103
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: central nervous system embryonal tumor
annotated property: IAO_0000115
annotated target: A central nervous system cancer of children and young adults that develops from neural crest cells located_in cerebrum, has_material_basis_in abnormally proliferating cells derives_from neuroectoderm.
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0151465
has db xref: url:https://en.wikipedia.org/wiki/Primitive_neuroectodermal_tumor

pharynx cancer
type: Class
subclass of: gastrointestinal system cancer
IAO_0000115: A gastrointestinal system cancer that is located_in the pharynx.
creation date: 2011-07-27T01:26:34Z
has db xref: MESH:D010610
has db xref: NCI:C3325
has db xref: SNOMEDCT_US_2023_03_01:126685009
has db xref: UMLS_CUI:C0031347
has exact synonym: pharyngeal neoplasm
has exact synonym: pharynx neoplasm
has OBO namespace: disease_ontology
has related synonym: pharyngeal cancer
id: DOID:0060119
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim

Axiom
annotated source: pharynx cancer
annotated property: IAO_0000115
annotated target: A gastrointestinal system cancer that is located_in the pharynx.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Pharynx

connective tissue benign neoplasm
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A musculoskeletal system benign neoplasm that is located_in connective tissue.
creation date: 2011-07-27T02:35:57Z
has alternative id: DOID:177
has db xref: MESH:D012983
has db xref: NCI:C3377
has db xref: SNOMEDCT_US_2023_03_01:126600002
has db xref: UMLS_CUI:C0037579
has exact synonym: mesenchymal tissue neoplasm
has exact synonym: neoplasm of soft tissue
has exact synonym: neoplasm of soft tissues
has exact synonym: soft tissue benign neoplasm
has exact synonym: tumor of the soft tissue
has OBO namespace: disease_ontology
id: DOID:0060123
in subset: NCIthesaurus

Axiom
annotated source: connective tissue benign neoplasm
annotated property: IAO_0000115
annotated target: A musculoskeletal system benign neoplasm that is located_in connective tissue.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Connective_tissue_neoplasm

heavy chain disease
type: Class
subclass of: disease
IAO_0000115: A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains.
creation date: 2011-08-22T11:23:09Z
has db xref: ICD10CM:C88.2
has db xref: ICDO:9762/3
has db xref: MESH:D006362
has db xref: NCI:C3082
has db xref: NCI:C3083
has db xref: NCI:C3892
has db xref: SNOMEDCT_US_2023_03_01:61493004
has db xref: SNOMEDCT_US_2023_03_01:6381009
has db xref: SNOMEDCT_US_2023_03_01:68979007
has db xref: UMLS_CUI:C0018852
has db xref: UMLS_CUI:C0018854
has db xref: UMLS_CUI:C0242310
has OBO namespace: disease_ontology
id: DOID:0060125
in subset: NCIthesaurus

Axiom
annotated source: heavy chain disease
annotated property: IAO_0000115
annotated target: A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Heavy_chain_disease

apraxia
type: Class
subclass of: agnosia
IAO_0000115: An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities.
creation date: 2011-08-22T12:04:56Z
has db xref: GARD:5838
has db xref: ICD10CM:R48.2
has db xref: MESH:D001072
has db xref: NCI:C180557
has db xref: SNOMEDCT_US_2023_03_01:271724003
has db xref: UMLS_CUI:C0003635
has OBO namespace: disease_ontology
id: DOID:0060135
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: apraxia
annotated property: IAO_0000115
annotated target: An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Agnosia

childhood spinal muscular atrophy
type: Class
subclass of: spinal muscular atrophy
IAO_0000115: A spinal muscular atrophy that is associated with the survival of motor neuron protein in childhood and that has_material_basis_in variation in the SMN gene.
creation date: 2011-08-29T01:15:14Z
has db xref: GARD:7674
has db xref: MESH:D014897
has db xref: NCI:C85076
has db xref: ORDO:70
has db xref: UMLS_CUI:C0700595
has exact synonym: spinal muscular atrophies of childhood
has exact synonym: survival motor neuron spinal muscular atrophy
has OBO namespace: disease_ontology
id: DOID:0060160
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: childhood spinal muscular atrophy
annotated property: IAO_0000115
annotated target: A spinal muscular atrophy that is associated with the survival of motor neuron protein in childhood and that has_material_basis_in variation in the SMN gene.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Survival_motor_neuron_spinal_muscular_atrophy

Kennedy's disease
type: Class
subclass of: spinal muscular atrophy
IAO_0000115: A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor.
creation date: 2011-08-29T01:31:03Z
has db xref: GARD:6818
has db xref: MESH:D055534
has db xref: MIM:313200
has db xref: NCI:C85233
has db xref: SNOMEDCT_US_2023_03_01:230253001
has db xref: UMLS_CUI:C1839259
has exact synonym: Kennedy disease
has exact synonym: SBMA
has exact synonym: Spinobulbar Muscular Atrophy
has exact synonym: X-Linked Bulbo-Spinal Atrophy
has exact synonym: X-linked Spinal and Bulbar Muscular Atrophy
has exact synonym: spinal bulbar muscular atrophy
has OBO namespace: disease_ontology
id: DOID:0060161
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Kennedy's disease
annotated property: IAO_0000115
annotated target: A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Kennedy_disease

Axiom
annotated source: Kennedy's disease
annotated property: hasExactSynonym
annotated target: SBMA
has synonym type: OMO_0003012

dentatorubral-pallidoluysian atrophy
type: Class
subclass of: autosomal dominant cerebellar ataxia
IAO_0000115: An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein.
creation date: 2011-08-29T01:41:48Z
has db xref: GARD:5643
has db xref: MESH:D020191
has db xref: MIM:125370
has db xref: NCI:C122653
has db xref: SNOMEDCT_US_2023_03_01:702422004
has db xref: UMLS_CUI:C0751781
has exact synonym: DRPLA
has exact synonym: Haw River Syndrome
has exact synonym: Naito-Oyanagi disease
has OBO namespace: disease_ontology
id: DOID:0060162
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: dentatorubral-pallidoluysian atrophy
annotated property: IAO_0000115
annotated target: An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Dentatorubral-pallidoluysian_atrophy

Axiom
annotated source: dentatorubral-pallidoluysian atrophy
annotated property: hasExactSynonym
annotated target: DRPLA
has synonym type: OMO_0003012

colitis
type: Class
subclass of: inflammatory bowel disease
IAO_0000115: An inflammatory bowel disease that involves inflammation located_in colon.
creation date: 2014-09-12T14:31:45Z
has db xref: EFO:0003872
has db xref: ICD10CM:K52.9
has db xref: MESH:D003092
has db xref: NCI:C26723
has db xref: SNOMEDCT_US_2023_03_01:64226004
has db xref: UMLS_CUI:C0009319
has OBO namespace: disease_ontology
id: DOID:0060180
in subset: NCIthesaurus

Axiom
annotated source: colitis
annotated property: IAO_0000115
annotated target: An inflammatory bowel disease that involves inflammation located_in colon.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Colitis

microscopic colitis
type: Class
subclass of: colitis
IAO_0000115: A colitis that can only be diagnosed_by the examination of colon tissue under a microscope.
creation date: 2014-09-12T14:49:18Z
has db xref: ICD10CM:K52.83
has db xref: MESH:D046728
has db xref: NCI:C38504
has db xref: ORDO:58220
has db xref: SNOMEDCT_US_2023_03_01:235753003
has db xref: UMLS_CUI:C0400821
has OBO namespace: disease_ontology
id: DOID:0060182
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: microscopic colitis
annotated property: IAO_0000115
annotated target: A colitis that can only be diagnosed_by the examination of colon tissue under a microscope.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Microscopic_colitis
has db xref: url:http://www.mayoclinic.org/diseases-conditions/microscopic-colitis/basics/definition/con-20026232
has db xref: url:https://www.niddk.nih.gov/health-information/digestive-diseases/microscopic-colitis

collagenous colitis
type: Class
subclass of: microscopic colitis
IAO_0000115: A colitis characterized by a distinctive thickening of the subepithelial collagen table.
creation date: 2014-09-12T14:56:28Z
has db xref: GARD:6135
has db xref: ICD10CM:K52.831
has db xref: MEDDRA:10048928
has db xref: MESH:D046729
has db xref: NCI:C27021
has db xref: SNOMEDCT_US_2023_03_01:19311003
has db xref: UMLS_CUI:C0238067
has OBO namespace: disease_ontology
id: DOID:0060183
in subset: DO rare slim
in subset: NCIthesaurus
comment: Has peak incidence in the 5th decade of life, affecting women more than men and a normal colonoscopy but abnormal histopathology on biopsy.

Axiom
annotated source: collagenous colitis
annotated property: IAO_0000115
annotated target: A colitis characterized by a distinctive thickening of the subepithelial collagen table.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Collagenous_colitis
has db xref: url:https://www.niddk.nih.gov/health-information/digestive-diseases/microscopic-colitis/definition-facts

lymphocytic colitis
type: Class
subclass of: microscopic colitis
IAO_0000115: A colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria).
creation date: 2014-09-12T14:58:50Z
has db xref: GARD:6939
has db xref: ICD10CM:K52.832
has db xref: MEDDRA:10025268
has db xref: MESH:D046730
has db xref: NCI:C27147
has db xref: ORDO:65279
has db xref: SNOMEDCT_US_2023_03_01:31437008
has db xref: UMLS_CUI:C0400822
has OBO namespace: disease_ontology
id: DOID:0060184
in subset: DO rare slim
in subset: NCIthesaurus
comment: The peak incidence of lymphocytic colitis is in persons over age 50; the disease affects women and men equally.

Axiom
annotated source: lymphocytic colitis
annotated property: IAO_0000115
annotated target: A colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria).
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Lymphocytic_colitis
has db xref: url:https://www.niddk.nih.gov/health-information/digestive-diseases/microscopic-colitis/definition-facts

Clostridium difficile colitis
type: Class
subclass of: colitis
IAO_0000115: A colitis characterized by an overgrowth of Clostridium difficile bacteria.
creation date: 2014-09-12T15:01:17Z
has db xref: ICD10CM:A04.7
has db xref: MEDDRA:10009657
has db xref: MESH:D004761
has db xref: NCI:C128347
has db xref: SNOMEDCT_US_2023_03_01:266525002
has db xref: SNOMEDCT_US_2023_03_01:397683000
has db xref: SNOMEDCT_US_2023_03_01:51180003
has db xref: UMLS_CUI:C0014358
has db xref: UMLS_CUI:C0085819
has db xref: UMLS_CUI:C1257843
has db xref: UMLS_CUI:C1257844
has db xref: UMLS_CUI:C1257845
has exact synonym: Pseudomembranous colitis
has OBO namespace: disease_ontology
id: DOID:0060185
in subset: NCIthesaurus

Axiom
annotated source: Clostridium difficile colitis
annotated property: IAO_0000115
annotated target: A colitis characterized by an overgrowth of Clostridium difficile bacteria.
type: ECO_0007638
type: ECO_0007640
has db xref: url:http://en.wikipedia.org/wiki/Clostridium_difficile_colitis
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/000259.htm

ileitis
type: Class
subclass of: DOID 8778
IAO_0000115: An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss.
creation date: 2014-09-15T11:40:07Z
has db xref: ICD10CM:K52.9
has db xref: MEDDRA:10021312
has db xref: MESH:D007079
has db xref: NCI:C84782
has db xref: SNOMEDCT_US_2023_03_01:52457000
has db xref: UMLS_CUI:C0020877
has exact synonym: Crohn's ileitis
has OBO namespace: disease_ontology
id: DOID:0060189
in subset: NCIthesaurus

Axiom
annotated source: ileitis
annotated property: IAO_0000115
annotated target: An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Ileitis

Crohn's colitis
type: Class
subclass of: DOID 8778
IAO_0000115: An inflammatory bowel disease characterized by inflammation located_in colon only, has_symptom diarrhea, has_symptom rectal bleeding, has_symptom skin lesions and has_symptom formation of ulcers, fistulas and abscesses around the anus.
creation date: 2014-09-15T12:50:24Z
has db xref: ICD10CM:K50.1
has db xref: ICD9CM:555.1
has db xref: MESH:D003424
has db xref: NCI:C37262
has db xref: SNOMEDCT_US_2023_03_01:7620006
has db xref: UMLS_CUI:C0156147
has OBO namespace: disease_ontology
id: DOID:0060192
in subset: NCIthesaurus
comment: OWL classification.

Axiom
annotated source: Crohn's colitis
annotated property: IAO_0000115
annotated target: An inflammatory bowel disease characterized by inflammation located_in colon only, has_symptom diarrhea, has_symptom rectal bleeding, has_symptom skin lesions and has_symptom formation of ulcers, fistulas and abscesses around the anus.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Crohn%27s_disease

Balo concentric sclerosis
type: Class
subclass of: multiple sclerosis
IAO_0000115: A multiple sclerosis that is characterized by concentric layers of demyelinated tissues, tumor-like lesions larger than two centimeters and symptoms similar to those of a brain tumor.
creation date: 2014-09-18T15:02:17Z
has db xref: GARD:5885
has db xref: ICD10CM:G37.0
has db xref: ICD9CM:341.1
has db xref: MESH:D002549
has db xref: NCI:C84670
has db xref: SNOMEDCT_US_2023_03_01:44875002
has db xref: UMLS_CUI:C0007795
has exact synonym: Balo disease
has exact synonym: Balo's concentric sclerosis
has exact synonym: Tumefactive multiple sclerosis
has OBO namespace: disease_ontology
id: DOID:0060215
in subset: DO rare slim
in subset: NCIthesaurus
comment: Similar to standard multiple sclerosis.

Axiom
annotated source: Balo concentric sclerosis
annotated property: IAO_0000115
annotated target: A multiple sclerosis that is characterized by concentric layers of demyelinated tissues, tumor-like lesions larger than two centimeters and symptoms similar to those of a brain tumor.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Balo_concentric_sclerosis
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/32140322/
has db xref: url:https://www.cedars-sinai.edu/Patients/Health-Conditions/Tumefactive-Multiple-Sclerosis.aspx
has db xref: url:https://www.ncbi.nlm.nih.gov/articles/PMC3110404/

Cogan-Reese syndrome
type: Class
subclass of: DOID 5614
IAO_0000115: An eye disease characterized by variable iris atrophy, pigmented and pedunculated nodules located_in iris and attachment of the iris to the cornea (peripheral anterior synechiae) and characterized_by glaucoma.
creation date: 2014-09-23T12:31:25Z
has db xref: GARD:6125
has db xref: MEDDRA:10059200
has db xref: NCI:C84644
has db xref: ORDO:98980
has db xref: SNOMEDCT_US_2023_03_01:129624009
has db xref: UMLS_CUI:C1168173
has OBO namespace: disease_ontology
id: DOID:0060217
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Cogan-Reese syndrome
annotated property: IAO_0000115
annotated target: An eye disease characterized by variable iris atrophy, pigmented and pedunculated nodules located_in iris and attachment of the iris to the cornea (peripheral anterior synechiae) and characterized_by glaucoma.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Iridocorneal_endothelial_syndrome

CREST syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia.
creation date: 2014-09-24T16:30:36Z
has db xref: GARD:12430
has db xref: ICD10CM:M34.1
has db xref: MESH:D017675
has db xref: NCI:C70646
has db xref: SNOMEDCT_US_2023_03_01:31848007
has db xref: SNOMEDCT_US_2023_03_01:62382002
has db xref: UMLS_CUI:C0206138
has db xref: UMLS_CUI:C1527226
has OBO namespace: disease_ontology
id: DOID:0060218
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: CREST syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/CREST_syndrome

atrial fibrillation
type: Class
subclass of: heart disease
IAO_0000115: A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.
creation date: 2015-01-16T14:55:21Z
has db xref: ICD9CM:427.31
has db xref: MESH:D001281
has db xref: NCI:C50466
has db xref: SNOMEDCT_US_2023_03_01:266306001
has db xref: UMLS_CUI:C0004238
has exact synonym: A-fib
has exact synonym: AFib
has OBO namespace: disease_ontology
id: DOID:0060224
in subset: NCIthesaurus

Axiom
annotated source: atrial fibrillation
annotated property: IAO_0000115
annotated target: A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Atrial_fibrillation
has db xref: url:http://www.mayoclinic.org/diseases-conditions/atrial-fibrillation/basics/definition/con-20027014
has db xref: url:http://www.nhlbi.nih.gov/health/health-topics/topics/af

Carpenter syndrome
type: Class
subclass of: acrocephalosyndactylia
IAO_0000115: An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly.
creation date: 2015-01-23T16:06:03Z
has db xref: GARD:6003
has db xref: MESH:C563187
has db xref: MIM:PS201000
has db xref: NCI:C98873
has db xref: ORDO:65759
has db xref: SNOMEDCT_US_2023_03_01:403767009
has db xref: UMLS_CUI:C1275078
has exact synonym: acrocephalopolysyndactyly type II
has OBO namespace: disease_ontology
id: DOID:0060234
in subset: DO rare slim
in subset: NCIthesaurus
comment: NT MGI.

Axiom
annotated source: Carpenter syndrome
annotated property: IAO_0000115
annotated target: An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Carpenter_syndrome
has db xref: url:http://ghr.nlm.nih.gov/condition/carpenter-syndrome
has db xref: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/612/viewAbstract

carnitine palmitoyltransferase II deficiency
type: Class
subclass of: DOID 655
IAO_0000115: A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria.
creation date: 2015-01-23T16:35:22Z
has db xref: MESH:C535589
has db xref: MIM:255110
has db xref: MIM:600649
has db xref: MIM:608836
has db xref: NCI:C114766
has db xref: ORDO:157
has db xref: SNOMEDCT_US_2023_03_01:238002005
has db xref: UMLS_CUI:C0342790
has exact synonym: CPT-II
has exact synonym: infantile carnitine palmitoyltransferase II deficiency
has exact synonym: late-onset carnitine palmitoyltransferase II deficiency
has exact synonym: lethal neonatal carnitine palmitoyltransferase II deficiency
has OBO namespace: disease_ontology
id: DOID:0060235
in subset: DO rare slim
in subset: NCIthesaurus
comment: NT MGI.

Axiom
annotated source: carnitine palmitoyltransferase II deficiency
annotated property: IAO_0000115
annotated target: A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Carnitine_palmitoyltransferase_II_deficiency
has db xref: url:http://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-ii-deficiency

Axiom
annotated source: carnitine palmitoyltransferase II deficiency
annotated property: hasExactSynonym
annotated target: CPT-II
has synonym type: OMO_0003012

Van der Woude syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone.
creation date: 2015-01-27T15:51:56Z
has db xref: GARD:8414
has db xref: ICD10CM:Q38.0
has db xref: MESH:C536528
has db xref: MESH:C563529
has db xref: MIM:119300
has db xref: MIM:606713
has db xref: NCI:C74986
has db xref: ORDO:888
has db xref: SNOMEDCT_US_2023_03_01:79261008
has db xref: UMLS_CUI:C0175697
has db xref: UMLS_CUI:C1834339
has OBO namespace: disease_ontology
has related synonym: lip-pit syndrome
id: DOID:0060239
in subset: DO rare slim
in subset: NCIthesaurus
comment: NT MGI.

Axiom
annotated source: Van der Woude syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Van_der_Woude_syndrome
has db xref: url:http://ghr.nlm.nih.gov/condition/van-der-woude-syndrome

synpolydactyly
type: Class
subclass of: syndactyly
IAO_0000115: A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOXD13 gene.
creation date: 2015-01-27T16:57:56Z
has db xref: GARD:5087
has db xref: MESH:C538153
has db xref: MIM:186000
has db xref: MIM:608180
has db xref: MIM:610234
has db xref: NCI:C75003
has db xref: ORDO:295195
has db xref: SNOMEDCT_US_2023_03_01:715724002
has db xref: UMLS_CUI:C2699746
has exact synonym: syndactyly type 2
has OBO namespace: disease_ontology
id: DOID:0060242
in subset: DO rare slim
in subset: NCIthesaurus
comment: NT MGI.

Axiom
annotated source: synpolydactyly
annotated property: IAO_0000115
annotated target: A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOXD13 gene.
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/Synpolydactyly
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/18177473
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/8817328

stuttering
type: Class
subclass of: DOID 92
IAO_0000115: An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech.
creation date: 2015-01-28T16:04:54Z
has db xref: ICD10CM:F80.81
has db xref: MESH:D013342
has db xref: MIM:184450
has db xref: MIM:609261
has db xref: MIM:614655
has db xref: MIM:614668
has db xref: NCI:C35043
has db xref: SNOMEDCT_US_2023_03_01:191987007
has db xref: SNOMEDCT_US_2023_03_01:229631007
has db xref: SNOMEDCT_US_2023_03_01:29916003
has db xref: UMLS_CUI:C0038131
has db xref: UMLS_CUI:C0038506
has db xref: UMLS_CUI:C0454542
has db xref: UMLS_CUI:C0751527
has db xref: UMLS_CUI:C0751528
has db xref: UMLS_CUI:C0751529
has db xref: UMLS_CUI:C3489627
has exact synonym: familial persistent stuttering
has exact synonym: stammering
has OBO namespace: disease_ontology
id: DOID:0060243
in subset: NCIthesaurus
comment: NT MGI.

Axiom
annotated source: stuttering
annotated property: IAO_0000115
annotated target: An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech.
type: ECO_0007638
type: ECO_0007643
has db xref: url:http://en.wikipedia.org/wiki/Stuttering
has db xref: url:http://www.asha.org/public/speech/disorders/stuttering.htm
has db xref: url:http://www.merriam-webster.com/dictionary/stutter

MASA syndrome
type: Class
subclass of: hereditary spastic paraplegia
IAO_0000115: A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range.
creation date: 2015-01-28T16:49:53Z
has db xref: GARD:6986
has db xref: MESH:C536029
has db xref: MIM:303350
has db xref: NCI:C129930
has db xref: ORDO:2466
has db xref: SNOMEDCT_US_2023_03_01:716996008
has db xref: UMLS_CUI:C0795953
has exact synonym: CRASH syndrome
has exact synonym: Gareis-Mason syndrome
has exact synonym: L1 syndrome
has exact synonym: SPG1
has exact synonym: X-linked complicated hereditary spastic paraplegia type 1
has exact synonym: X-linked corpus callosum agenesis
has exact synonym: X-linked spastic paraplegia 1
has exact synonym: hereditary spastic paraplegia 1
has OBO namespace: disease_ontology
id: DOID:0060246
in subset: DO rare slim
in subset: NCIthesaurus
comment: NT MGI.

Axiom
annotated source: MASA syndrome
annotated property: IAO_0000115
annotated target: A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/MASA_syndrome
has db xref: url:http://ghr.nlm.nih.gov/condition/l1-syndrome
has db xref: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1097/viewAbstract

Axiom
annotated source: MASA syndrome
annotated property: hasExactSynonym
annotated target: SPG1
has synonym type: OMO_0003012

Simpson-Golabi-Behmel syndrome type 1
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 (GPC3) on chromosome Xq26.
creation date: 2015-01-29T15:15:46Z
has db xref: GARD:7649
has db xref: MESH:C537340
has db xref: MIM:312870
has db xref: NCI:C118787
has db xref: ORDO:373
has db xref: UMLS_CUI:C0796154
has exact synonym: DGSX Golabi-Rosen syndrome
has exact synonym: Golabi-Rosen syndrome
has exact synonym: SGB syndrome
has exact synonym: Sara Angers syndrome
has exact synonym: Simpson dysmorphia syndrome
has exact synonym: X-linked dysplasia gigantism syndrome
has exact synonym: bulldog syndrome
has OBO namespace: disease_ontology
id: DOID:0060248
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Simpson-Golabi-Behmel syndrome type 1
annotated property: IAO_0000115
annotated target: A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 (GPC3) on chromosome Xq26.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Simpson%E2%80%93Golabi%E2%80%93Behmel_syndrome
has db xref: url:http://ghr.nlm.nih.gov/condition/simpson-golabi-behmel-syndrome
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/36720533/

scoliosis
type: Class
subclass of: DOID 65
IAO_0000115: A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine.
creation date: 2015-01-29T15:44:16Z
has db xref: ICD10CM:M41.9
has db xref: MESH:D012600
has db xref: NCI:C78603
has db xref: SNOMEDCT_US_2023_03_01:36773001
has db xref: UMLS_CUI:C0036439
has OBO namespace: disease_ontology
id: DOID:0060249
in subset: NCIthesaurus
comment: NT MGI add.

Axiom
annotated source: scoliosis
annotated property: IAO_0000115
annotated target: A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Scoliosis
has db xref: url:http://www.mayoclinic.org/diseases-conditions/scoliosis/basics/definition/con-20030140

sclerosteosis
type: Class
subclass of: hyperostosis
IAO_0000115: A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life.
creation date: 2015-01-29T16:02:45Z
has db xref: GARD:4771
has db xref: MESH:C537525
has db xref: MIM:PS269500
has db xref: NCI:C131133
has db xref: ORDO:3152
has db xref: SNOMEDCT_US_2023_03_01:17568006
has db xref: UMLS_CUI:C0265301
has OBO namespace: disease_ontology
id: DOID:0060251
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: sclerosteosis
annotated property: IAO_0000115
annotated target: A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life.
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/Sclerostin#Clinical_significance
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/11836356

Robinow syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities.
creation date: 2015-01-29T16:42:52Z
has db xref: GARD:312
has db xref: ICD10CM:Q87.19
has db xref: MESH:C562492
has db xref: MIM:PS268310
has db xref: NCI:C85048
has db xref: ORDO:97360
has db xref: SNOMEDCT_US_2023_03_01:76520005
has db xref: UMLS_CUI:C0265205
has exact synonym: Robinow dwarfism
has exact synonym: acral dysostosis with facial and genital abnormalities
has exact synonym: fetal face syndrome
has OBO namespace: disease_ontology
id: DOID:0060254
in subset: DO rare slim
in subset: NCIthesaurus
comment: NT MGI.

Axiom
annotated source: Robinow syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Robinow_syndrome
has db xref: url:http://ghr.nlm.nih.gov/condition/robinow-syndrome
has db xref: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/696/viewAbstract

dyschromatosis symmetrica hereditaria
type: Class
subclass of: skin disease
IAO_0000115: A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities.
creation date: 2015-01-30T16:08:47Z
has db xref: MESH:C535729
has db xref: MIM:127400
has db xref: NCI:C118435
has db xref: ORDO:41
has db xref: SNOMEDCT_US_2023_03_01:239085000
has db xref: UMLS_CUI:C0406775
has exact synonym: reticulate acropigmentation of Dohi
has OBO namespace: disease_ontology
id: DOID:0060257
in subset: DO rare slim
in subset: NCIthesaurus
comment: NT MGI.

Axiom
annotated source: dyschromatosis symmetrica hereditaria
annotated property: IAO_0000115
annotated target: A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities.
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/Dyschromatosis_symmetrica_hereditaria
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/22974014

ptosis
type: Class
subclass of: DOID 5614
IAO_0000115: An eye disease characterized by the drooping or falling of the upper or lower eyelid.
creation date: 2015-01-30T16:46:53Z
has db xref: ICD10CM:H02.4
has db xref: ICD9CM:374.3
has db xref: MESH:D001763
has db xref: NCI:C27298
has db xref: SNOMEDCT_US_2023_03_01:204197004
has db xref: UMLS_CUI:C0005745
has exact synonym: blepharoptosis
has exact synonym: drooping eyelid
has OBO namespace: disease_ontology
id: DOID:0060260
in subset: NCIthesaurus
comment: NT MGI add.

Axiom
annotated source: ptosis
annotated property: IAO_0000115
annotated target: An eye disease characterized by the drooping or falling of the upper or lower eyelid.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Ptosis_%28eyelid%29

congenital ptosis
type: Class
subclass of: ptosis
IAO_0000115: A ptosis characterized by superior eyelid drop present at birth.
creation date: 2015-01-30T16:53:38Z
has db xref: ICD10CM:Q10.0
has db xref: ICD9CM:743.61
has db xref: NCI:C27049
has db xref: ORDO:91411
has db xref: SNOMEDCT_US_2025_05_01:268163008
has db xref: UMLS_CUI:C0266573
has narrow synonym: hereditary congenital ptosis
has OBO namespace: disease_ontology
id: DOID:0060261
in subset: DO rare slim
in subset: NCIthesaurus
comment: NT MGI.

Axiom
annotated source: congenital ptosis
annotated property: IAO_0000115
annotated target: A ptosis characterized by superior eyelid drop present at birth.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Ptosis_%28eyelid%29
has db xref: url:https://eyewiki.aao.org/Ptosis,_Congenital

gallbladder disease
type: Class
subclass of: disease
IAO_0000115: A gastrointestinal system disease that is located_in the gallbladder.
creation date: 2015-02-02T15:48:08Z
has alternative id: DOID:0000000
has db xref: ICD10CM:K82.9
has db xref: ICD9CM:575.9
has db xref: MESH:D005705
has db xref: MIM:609918
has db xref: MIM:609919
has db xref: MIM:611465
has db xref: NCI:C34631
has db xref: SNOMEDCT_US_2023_03_01:155807008
has db xref: UMLS_CUI:C0016977
has OBO namespace: disease_ontology
id: DOID:0060262
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: gallbladder disease
annotated property: IAO_0000115
annotated target: A gastrointestinal system disease that is located_in the gallbladder.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Gallbladder_disease

persistent hyperplastic primary vitreous
type: Class
subclass of: DOID 5614
IAO_0000115: A developmental vitreous disease that is characterized by leukocoria, strabismus and vision loss, caused by failure of primary vitreous and hyaloid vasculature to regress during embryological development.
creation date: 2015-02-04T16:21:06Z
has db xref: MESH:D054514
has db xref: MIM:221900
has db xref: MIM:611308
has db xref: NCI:C161554
has db xref: ORDO:91495
has db xref: SNOMEDCT_US_2023_03_01:69927002
has db xref: UMLS_CUI:C0266568
has OBO namespace: disease_ontology
id: DOID:0060282
in subset: DO rare slim
in subset: NCIthesaurus
comment: NT MGI.

Axiom
annotated source: persistent hyperplastic primary vitreous
annotated property: IAO_0000115
annotated target: A developmental vitreous disease that is characterized by leukocoria, strabismus and vision loss, caused by failure of primary vitreous and hyaloid vasculature to regress during embryological development.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Persistent_hyperplastic_primary_vitreous

paroxysmal nocturnal hemoglobinuria
type: Class
subclass of: DOID 582
IAO_0000115: An acquired hemolytic anemia that is characterized by abdominal pain, hematuria, esophageal dysmotility and thrombosis, has_material_basis_in defect in the cell membrane glycosyl phosphatidylinositols that protect red blood cells from the innate complement immune system.
creation date: 2015-02-04T16:30:50Z
has db xref: GARD:7337
has db xref: ICD10CM:D59.5
has db xref: ICD10CM:D59.6
has db xref: MESH:D006457
has db xref: MIM:300818
has db xref: MIM:615399
has db xref: NCI:C61233
has db xref: ORDO:447
has db xref: SNOMEDCT_US_2023_03_01:1468004
has db xref: SNOMEDCT_US_2023_03_01:154805009
has db xref: SNOMEDCT_US_2023_03_01:191226006
has db xref: UMLS_CUI:C0019050
has db xref: UMLS_CUI:C0024790
has db xref: UMLS_CUI:C0086774
has OBO namespace: disease_ontology
id: DOID:0060284
in subset: DO rare slim
in subset: NCIthesaurus
comment: NT MGI.

Axiom
annotated source: paroxysmal nocturnal hemoglobinuria
annotated property: IAO_0000115
annotated target: An acquired hemolytic anemia that is characterized by abdominal pain, hematuria, esophageal dysmotility and thrombosis, has_material_basis_in defect in the cell membrane glycosyl phosphatidylinositols that protect red blood cells from the innate complement immune system.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Paroxysmal_nocturnal_hemoglobinuria

dyschromatosis universalis hereditaria
type: Class
subclass of: skin disease
IAO_0000115: A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution.
creation date: 2015-02-09T16:53:42Z
has db xref: GARD:1996
has db xref: MESH:C535730
has db xref: MIM:127500
has db xref: MIM:612715
has db xref: MIM:615402
has db xref: NCI:C173131
has db xref: ORDO:241
has db xref: UMLS_CUI:C2930995
has OBO namespace: disease_ontology
id: DOID:0060304
in subset: DO rare slim
in subset: NCIthesaurus
comment: NT MGI.

Axiom
annotated source: dyschromatosis universalis hereditaria
annotated property: IAO_0000115
annotated target: A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution.
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/Dyschromatosis_universalis_hereditaria
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/12372090

angular cheilitis
type: Class
subclass of: cheilitis
IAO_0000115: A cheilitis characterized by inflammation of one or both of the corners of the mouth.
creation date: 2015-02-19T15:57:00Z
has db xref: ICD10CM:K13.0
has db xref: NCI:C112198
has db xref: SNOMEDCT_US_2023_03_01:200729007
has db xref: UMLS_CUI:C0221237
has exact synonym: angular cheilosis
has exact synonym: angular stomatitis
has exact synonym: cheilosis
has exact synonym: commissural cheilitis
has OBO namespace: disease_ontology
id: DOID:0060312
in subset: NCIthesaurus
comment: PRISM.

Axiom
annotated source: angular cheilitis
annotated property: IAO_0000115
annotated target: A cheilitis characterized by inflammation of one or both of the corners of the mouth.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Angular_cheilitis

oral hairy leukoplakia
type: Class
subclass of: mouth disease
IAO_0000115: A mouth disease characterized by a white patch on the side of the tongue with a corrugated or hairy appearance; caused by Epstein-Barr virus.
creation date: 2015-02-23T15:55:53Z
has db xref: ICD10CM:K13.3
has db xref: MESH:D017733
has db xref: NCI:C3722
has db xref: SNOMEDCT_US_2023_03_01:58918007
has db xref: UMLS_CUI:C0206186
has exact synonym: hairy leukoplakia
has OBO namespace: disease_ontology
id: DOID:0060315
in subset: NCIthesaurus

Axiom
annotated source: oral hairy leukoplakia
annotated property: IAO_0000115
annotated target: A mouth disease characterized by a white patch on the side of the tongue with a corrugated or hairy appearance; caused by Epstein-Barr virus.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Hairy_leukoplakia

orofaciodigital syndrome I
type: Class
subclass of: syndrome
IAO_0000115: An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease.
creation date: 2015-03-09T17:15:07Z
has db xref: ICD10CM:Q87.0
has db xref: MESH:D009958
has db xref: MIM:311200
has db xref: NCI:C75481
has db xref: ORDO:2750
has db xref: SNOMEDCT_US_2023_03_01:1779005
has db xref: SNOMEDCT_US_2023_03_01:403773005
has db xref: SNOMEDCT_US_2023_03_01:52868006
has db xref: UMLS_CUI:C0026363
has db xref: UMLS_CUI:C0029294
has db xref: UMLS_CUI:C1510460
has exact synonym: Papillon-Leage-Psaume syndrome
has exact synonym: orofaciodigital syndrome 1
has exact synonym: orofaciodigital syndrome type I
has OBO namespace: disease_ontology
id: DOID:0060316
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: orofaciodigital syndrome I
annotated property: IAO_0000115
annotated target: An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Orofaciodigital_syndrome_1
has db xref: url:https://ghr.nlm.nih.gov/condition/oral-facial-digital-syndrome#inheritance

lung abscess
type: Class
subclass of: DOID 850
IAO_0000115: A lung disease characterized by microbial infection which causes a type of liquefactive necrosis of the pulmonary tissue and formation of cavities containing necrotic debris or fluid.
creation date: 2015-02-23T16:58:49Z
has db xref: ICD10CM:J85.2
has db xref: ICD9CM:513.0
has db xref: MESH:D008169
has db xref: NCI:C99090
has db xref: SNOMEDCT_US_2023_03_01:155618005
has db xref: UMLS_CUI:C0024110
has OBO namespace: disease_ontology
id: DOID:0060317
in subset: NCIthesaurus

Axiom
annotated source: lung abscess
annotated property: IAO_0000115
annotated target: A lung disease characterized by microbial infection which causes a type of liquefactive necrosis of the pulmonary tissue and formation of cavities containing necrotic debris or fluid.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Lung_abscess

acute promyelocytic leukemia
type: Class
subclass of: DOID 9119
IAO_0000115: An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17.
creation date: 2015-02-24T16:50:50Z
has db xref: GARD:538
has db xref: ICD10CM:C92.4
has db xref: MESH:D015473
has db xref: MIM:612376
has db xref: NCI:C3182
has db xref: ORDO:520
has db xref: SNOMEDCT_US_2023_03_01:28950004
has db xref: UMLS_CUI:C0023487
has exact synonym: acute myeloblastic leukaemia type 3
has exact synonym: acute myeloblastic leukemia type 3
has exact synonym: acute myeloid leukaemia M3
has exact synonym: acute myeloid leukemia M3
has exact synonym: acute promyelocytic leukaemia
has OBO namespace: disease_ontology
id: DOID:0060318
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: acute promyelocytic leukemia
annotated property: IAO_0000115
annotated target: An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Acute_promyelocytic_leukemia
has db xref: url:http://ghr.nlm.nih.gov/condition/acute-promyelocytic-leukemia

cardiac arrest
type: Class
subclass of: DOID 6000
IAO_0000115: A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all.
creation date: 2015-02-25T15:12:30Z
has db xref: ICD10CM:I46
has db xref: ICD9CM:427.5
has db xref: MESH:D006323
has db xref: NCI:C50479
has db xref: NCI:C50483
has db xref: SNOMEDCT_US_2023_03_01:30298009
has db xref: UMLS_CUI:C0018790
has db xref: UMLS_CUI:C0600228
has exact synonym: cardiopulmonary arrest
has exact synonym: circulatory arrest
has OBO namespace: disease_ontology
id: DOID:0060319
in subset: NCIthesaurus

Axiom
annotated source: cardiac arrest
annotated property: IAO_0000115
annotated target: A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all.
type: ECO_0007638
type: ECO_0007644
has db xref: url:http://en.wikipedia.org/wiki/Cardiac_arrest
has db xref: url:http://www.nlm.nih.gov/medlineplus/cardiacarrest.html

inguinal hernia
type: Class
subclass of: DOID 5295
IAO_0000115: An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal.
creation date: 2015-02-25T15:54:50Z
has db xref: ICD10CM:K40
has db xref: ICD9CM:550
has db xref: MESH:D006552
has db xref: NCI:C34690
has db xref: NCI:C34691
has db xref: NCI:C34692
has db xref: SNOMEDCT_US_2023_03_01:155738001
has db xref: SNOMEDCT_US_2023_03_01:196800008
has db xref: UMLS_CUI:C0019294
has db xref: UMLS_CUI:C0019295
has db xref: UMLS_CUI:C0019296
has OBO namespace: disease_ontology
id: DOID:0060320
in subset: NCIthesaurus

Axiom
annotated source: inguinal hernia
annotated property: IAO_0000115
annotated target: An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Inguinal_hernia

umbilical hernia
type: Class
subclass of: DOID 5295
IAO_0000115: A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles.
creation date: 2015-02-25T15:58:35Z
has db xref: ICD10CM:Q79.2
has db xref: ICD9CM:756.72
has db xref: MESH:D006554
has db xref: NCI:C98997
has db xref: SNOMEDCT_US_2023_03_01:49324006
has db xref: SNOMEDCT_US_2023_03_01:5867007
has db xref: UMLS_CUI:C0795690
has db xref: UMLS_CUI:C1306503
has OBO namespace: disease_ontology
id: DOID:0060321
in subset: NCIthesaurus

Axiom
annotated source: umbilical hernia
annotated property: IAO_0000115
annotated target: A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://www.mayoclinic.org/diseases-conditions/umbilical-hernia/basics/definition/con-20025630
has db xref: url:https://en.wikipedia.org/wiki/Umbilical_hernia

mastoiditis
type: Class
subclass of: DOID 65
IAO_0000115: A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process.
creation date: 2015-02-25T16:29:09Z
has db xref: ICD10CM:H70.9
has db xref: ICD9CM:383.9
has db xref: MESH:D008417
has db xref: NCI:C128368
has db xref: SNOMEDCT_US_2023_03_01:155230007
has db xref: UMLS_CUI:C0024904
has OBO namespace: disease_ontology
id: DOID:0060322
in subset: NCIthesaurus

Axiom
annotated source: mastoiditis
annotated property: IAO_0000115
annotated target: A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process.
type: ECO_0007638
type: ECO_0007640
has db xref: url:http://en.wikipedia.org/wiki/Mastoiditis
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/001034.htm

myelomeningocele
type: Class
subclass of: spina bifida
IAO_0000115: A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes.
creation date: 2015-02-25T17:47:25Z
has db xref: ICD10CM:Q05
has db xref: MESH:D008591
has db xref: NCI:C101201
has db xref: NCI:C98874
has db xref: SNOMEDCT_US_2023_03_01:268308005
has db xref: SNOMEDCT_US_2023_03_01:7096005
has db xref: UMLS_CUI:C0025312
has db xref: UMLS_CUI:C0086664
has db xref: UMLS_CUI:C0751316
has OBO namespace: disease_ontology
id: DOID:0060326
in subset: NCIthesaurus

Axiom
annotated source: myelomeningocele
annotated property: IAO_0000115
annotated target: A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes.
type: ECO_0007638
type: ECO_0007640
has db xref: url:http://en.wikipedia.org/wiki/Spina_bifida#Myelomeningocele
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/001558.htm

omphalocele
type: Class
subclass of: disease
IAO_0000115: A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac.
creation date: 2015-02-25T17:54:05Z
has db xref: ICD10CM:Q79.2
has db xref: ICD9CM:756.72
has db xref: MESH:D006554
has db xref: MIM:164750
has db xref: NCI:C98997
has db xref: SNOMEDCT_US_2023_03_01:49324006
has db xref: SNOMEDCT_US_2023_03_01:5867007
has db xref: UMLS_CUI:C0795690
has db xref: UMLS_CUI:C1306503
has exact synonym: exomphalos
has exact synonym: omphalocoele
has OBO namespace: disease_ontology
id: DOID:0060327
in subset: NCIthesaurus

Axiom
annotated source: omphalocele
annotated property: IAO_0000115
annotated target: A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac.
type: ECO_0007638
type: ECO_0007640
has db xref: url:http://en.wikipedia.org/wiki/Omphalocele
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/000994.htm

ectopic pregnancy
type: Class
subclass of: reproductive system disease
IAO_0000115: A female reproductive system disease characterized by the implantation of the embryo outside the uterine cavity.
creation date: 2015-02-25T19:27:50Z
has db xref: GARD:6318
has db xref: ICD10CM:O00
has db xref: ICD9CM:633
has db xref: MESH:D011271
has db xref: NCI:C34945
has db xref: SNOMEDCT_US_2023_03_01:156080003
has db xref: UMLS_CUI:C0032987
has exact synonym: eccyesis
has OBO namespace: disease_ontology
id: DOID:0060329
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: ectopic pregnancy
annotated property: IAO_0000115
annotated target: A female reproductive system disease characterized by the implantation of the embryo outside the uterine cavity.
type: ECO_0007638
type: ECO_0007640
has db xref: url:http://en.wikipedia.org/wiki/Ectopic_pregnancy
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/000895.htm

bacillary angiomatosis
type: Class
subclass of: bartonellosis
IAO_0000115: A bartonellosis that has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella quintana. The disease is characterized by the proliferation of blood vessels, resulting in them forming tumour-like masses in the skin and other organs.
creation date: 2015-05-28T16:26:12Z
has db xref: MESH:D016917
has db xref: NCI:C3477
has db xref: SNOMEDCT_US_2023_03_01:58213005
has db xref: UMLS_CUI:C0085434
has OBO namespace: disease_ontology
id: DOID:0060345
in subset: DO infectious disease slim
in subset: GOLD
in subset: NCIthesaurus

Axiom
annotated source: bacillary angiomatosis
annotated property: IAO_0000115
annotated target: A bartonellosis that has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella quintana. The disease is characterized by the proliferation of blood vessels, resulting in them forming tumour-like masses in the skin and other organs.
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/Bacillary_angiomatosis
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/9407154

hypoparathyroidism-retardation-dysmorphism syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene on chromosome 1q42.3.
creation date: 2015-06-19T20:05:16Z
has db xref: GARD:411
has db xref: MESH:C537157
has db xref: MIM:241410
has db xref: NCI:C133727
has db xref: ORDO:2323
has db xref: SNOMEDCT_US_2023_03_01:1197148005
has db xref: UMLS_CUI:C1855840
has exact synonym: HRD syndrome
has exact synonym: Sanjad-Sakati syndrome
has exact synonym: hypoparathyroidism with short stature, mental retardation and seizures
has OBO namespace: disease_ontology
id: DOID:0060348
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: hypoparathyroidism-retardation-dysmorphism syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene on chromosome 1q42.3.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/15645691
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/24339556

adenine phosphoribosyltransferase deficiency
type: Class
subclass of: DOID 655
IAO_0000115: A purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT) on chromosome 16q24.
creation date: 2015-07-02T16:06:22Z
has db xref: GARD:10666
has db xref: GARD:546
has db xref: MESH:C538228
has db xref: MIM:614723
has db xref: NCI:C121564
has db xref: SNOMEDCT_US_2023_03_01:11852004
has db xref: UMLS_CUI:C0268120
has db xref: UMLS_CUI:C3665382
has exact synonym: 2,8-dihydroxyadenine urolithiasis
has exact synonym: APRT deficiency
has OBO namespace: disease_ontology
id: DOID:0060350
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: adenine phosphoribosyltransferase deficiency
annotated property: IAO_0000115
annotated target: A purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT) on chromosome 16q24.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://ghr.nlm.nih.gov/condition/adenine-phosphoribosyltransferase-deficiency
has db xref: url:https://en.wikipedia.org/wiki/Adenine_phosphoribosyltransferase_deficiency
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/22700886/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/8864750/
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/20150536

Kleefstra syndrome 1
type: Class
subclass of: syndrome
IAO_0000115: A Kleefstra syndrome that is characterized by severe mental retardation, hypotonia, microcephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects and that has_material_basis_in a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region.
creation date: 2015-07-14T16:49:09Z
has alternative id: DOID:0070075
has db xref: GARD:8672
has db xref: MESH:C563043
has db xref: MIM:610253
has db xref: NCI:C129976
has db xref: ORDO:261494
has db xref: UMLS_CUI:C0795833
has exact synonym: 9q subtelomeric deletion syndrome
has exact synonym: 9q-syndrome
has exact synonym: 9q34 deletion syndrome
has OBO namespace: disease_ontology
id: DOID:0060352
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Kleefstra syndrome 1
annotated property: IAO_0000115
annotated target: A Kleefstra syndrome that is characterized by severe mental retardation, hypotonia, microcephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects and that has_material_basis_in a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007645
has db xref: url:https://en.wikipedia.org/wiki/9q34_deletion_syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/15264279
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/16826528
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/21245904

Vici syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has_material_basis_in mutation in the EPG5 gene on chromosome 18q12.3.
creation date: 2015-08-19T16:22:27Z
has db xref: GARD:448
has db xref: MESH:C535566
has db xref: MIM:242840
has db xref: NCI:C138174
has db xref: ORDO:1493
has db xref: SNOMEDCT_US_2023_03_01:719824001
has db xref: UMLS_CUI:C1855772
has exact synonym: immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum
has OBO namespace: disease_ontology
id: DOID:0060356
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Vici syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has_material_basis_in mutation in the EPG5 gene on chromosome 18q12.3.
type: ECO_0007638
type: ECO_0007645
has db xref: url:https://en.wikipedia.org/wiki/Vici_syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/21965116
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/23222957

multiple acyl-CoA dehydrogenase deficiency
type: Class
subclass of: DOID 655
IAO_0000115: An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal.
creation date: 2015-08-20T16:23:47Z
has db xref: ICD10CM:E71.313
has db xref: MESH:D054069
has db xref: MIM:231680
has db xref: NCI:C84907
has db xref: ORDO:26791
has db xref: SNOMEDCT_US_2023_03_01:22886006
has db xref: UMLS_CUI:C0268596
has db xref: UMLS_CUI:C1856401
has db xref: UMLS_CUI:C1856403
has db xref: UMLS_CUI:C1856405
has exact synonym: MAD deficiency
has exact synonym: MADD
has exact synonym: electron transfer flavoprotein deficiency
has exact synonym: electron transfer flavoprotein ubiquinone oxidoreductase deficiency
has exact synonym: glutaric acidemia type 2
has exact synonym: glutaric aciduria type 2
has OBO namespace: disease_ontology
id: DOID:0060358
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: multiple acyl-CoA dehydrogenase deficiency
annotated property: IAO_0000115
annotated target: An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii
has db xref: url:https://en.wikipedia.org/wiki/Glutaric_acidemia_type_2
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/12815589
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/22580358

Axiom
annotated source: multiple acyl-CoA dehydrogenase deficiency
annotated property: hasExactSynonym
annotated target: MADD
has synonym type: OMO_0003012

Joubert syndrome with orofaciodigital defect
type: Class
subclass of: syndrome
IAO_0000115: A Joubert syndrome that is characterized by orofaciodigital defect.
creation date: 2015-09-18T15:00:19Z
has db xref: GARD:4412
has db xref: MESH:C536531
has db xref: MIM:277170
has db xref: NCI:C124841
has db xref: ORDO:2754
has db xref: SNOMEDCT_US_2023_03_01:721873007
has db xref: UMLS_CUI:C2745997
has exact synonym: OFD6
has exact synonym: Polydactyly cleft lip palate psychomotor retardation
has exact synonym: Varadi syndrome
has exact synonym: Varadi-Papp syndrome
has exact synonym: orofaciodigital syndrome VI
has OBO namespace: disease_ontology
id: DOID:0060376
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Joubert syndrome with orofaciodigital defect
annotated property: IAO_0000115
annotated target: A Joubert syndrome that is characterized by orofaciodigital defect.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/23716954

Axiom
annotated source: Joubert syndrome with orofaciodigital defect
annotated property: hasExactSynonym
annotated target: OFD6
has synonym type: OMO_0003012

chondrodysplasia Blomstrand type
type: Class
subclass of: osteochondrodysplasia
IAO_0000115: An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, has_material_basis_in autosomal recessive inheritance of mutation in the PTH1R gene.
creation date: 2015-09-24T16:23:12Z
has db xref: GARD:914
has db xref: MESH:C537914
has db xref: MIM:215045
has db xref: NCI:C131420
has db xref: ORDO:50945
has db xref: UMLS_CUI:C1859148
has exact synonym: Blomstrand lethal chondrodysplasia
has OBO namespace: disease_ontology
id: DOID:0060387
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: chondrodysplasia Blomstrand type
annotated property: IAO_0000115
annotated target: An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, has_material_basis_in autosomal recessive inheritance of mutation in the PTH1R gene.
type: ECO_0007637
has db xref: url:https://rarediseases.info.nih.gov/diseases/914/chondrodysplasia-blomstrand-type

chromosome 18p deletion syndrome
type: Class
subclass of: DOID 630
IAO_0000115: A chromosomal deletion syndrome that has_material_basis_in partial or complete deletion of the short arm of chromosome 18.
creation date: 2015-09-28T17:01:47Z
has db xref: GARD:8631
has db xref: MESH:C538309
has db xref: MIM:146390
has db xref: NCI:C84521
has db xref: ORDO:1598
has db xref: SNOMEDCT_US_2023_03_01:205632001
has db xref: UMLS_CUI:C0432442
has exact synonym: 18p- syndrome
has exact synonym: De Grouchy syndrome
has exact synonym: monosomy 18p
has OBO namespace: disease_ontology
id: DOID:0060406
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: chromosome 18p deletion syndrome
annotated property: IAO_0000115
annotated target: A chromosomal deletion syndrome that has_material_basis_in partial or complete deletion of the short arm of chromosome 18.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/16691587

chromosome 1p36 deletion syndrome
type: Class
subclass of: DOID 630
IAO_0000115: A chromosomal deletion syndrome that has_material_basis_in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed chin and low-set ears.
creation date: 2015-09-28T17:14:10Z
has db xref: GARD:6082
has db xref: MESH:C535362
has db xref: MIM:607872
has db xref: NCI:C74983
has db xref: ORDO:1606
has db xref: SNOMEDCT_US_2023_03_01:699306003
has db xref: UMLS_CUI:C1842870
has exact synonym: 1p36 deletion syndrome
has exact synonym: deletion 1p36
has exact synonym: monosomy 1p36
has OBO namespace: disease_ontology
has related synonym: subtelomeric 1p36 deletion
id: DOID:0060410
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: chromosome 1p36 deletion syndrome
annotated property: IAO_0000115
annotated target: A chromosomal deletion syndrome that has_material_basis_in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed chin and low-set ears.
has db xref: url:https://ghr.nlm.nih.gov/condition/1p36-deletion-syndrome

Cole-Carpenter syndrome
type: Class
subclass of: osteogenesis imperfecta
IAO_0000115: An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance.
creation date: 2015-10-06T16:24:18Z
has db xref: MESH:C535963
has db xref: MIM:112240
has db xref: MIM:616294
has db xref: NCI:C130985
has db xref: ORDO:2050
has OBO namespace: disease_ontology
id: DOID:0060438
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Cole-Carpenter syndrome
annotated property: IAO_0000115
annotated target: An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/10842295

lysinuric protein intolerance
type: Class
subclass of: DOID 9252
IAO_0000115: An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It has_material_basis_in homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11.
creation date: 2015-10-13T15:04:00Z
has db xref: GARD:3335
has db xref: MESH:C562687
has db xref: MIM:222700
has db xref: NCI:C121563
has db xref: ORDO:470
has db xref: SNOMEDCT_US_2023_03_01:13138006
has db xref: UMLS_CUI:C0268647
has exact synonym: LPI
has exact synonym: dibasic amino aciduria II
has exact synonym: hyperdibasic aminoaciduria
has OBO namespace: disease_ontology
id: DOID:0060439
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: lysinuric protein intolerance
annotated property: IAO_0000115
annotated target: An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It has_material_basis_in homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007645
type: ECO_0007646
has db xref: url:http://ghr.nlm.nih.gov/condition/lysinuric-protein-intolerance
has db xref: url:http://www.ncbi.nlm.nih.gov/books/NBK1361/
has db xref: url:https://en.wikipedia.org/wiki/Lysinuric_protein_intolerance
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/1155480

Axiom
annotated source: lysinuric protein intolerance
annotated property: hasExactSynonym
annotated target: LPI
has synonym type: OMO_0003012

gelatinous drop-like corneal dystrophy
type: Class
subclass of: corneal dystrophy
IAO_0000115: An epithelial and subepithelial dystrophy that is characterized by severe corneal amyloidosis leading to blindness and that has_material_basis_in homozygous or compound heterozygous mutation in the TACSTD2 gene which encodes the monoclonal antibody-defined, tumor-associated antigen GA733-1, on chromosome 1p32.
creation date: 2015-10-16T17:26:37Z
has db xref: MESH:C535480
has db xref: MIM:204870
has db xref: NCI:C142805
has db xref: ORDO:98957
has db xref: SNOMEDCT_US_2023_03_01:419900000
has db xref: UMLS_CUI:C0339273
has exact synonym: GDCD
has exact synonym: corneal amyloidosis
has exact synonym: primary familial amyloidosis of the cornea
has exact synonym: subepithelial amyloidosis of the cornea
has OBO namespace: disease_ontology
id: DOID:0060449
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: gelatinous drop-like corneal dystrophy
annotated property: IAO_0000115
annotated target: An epithelial and subepithelial dystrophy that is characterized by severe corneal amyloidosis leading to blindness and that has_material_basis_in homozygous or compound heterozygous mutation in the TACSTD2 gene which encodes the monoclonal antibody-defined, tumor-associated antigen GA733-1, on chromosome 1p32.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/10192395/

Axiom
annotated source: gelatinous drop-like corneal dystrophy
annotated property: hasExactSynonym
annotated target: GDCD
has synonym type: OMO_0003012

Meesmann corneal dystrophy
type: Class
subclass of: corneal dystrophy
IAO_0000115: An epithelial and subepithelial dystrophy that is characterized by the formation of tiny round cysts in the corneal epithelium.
creation date: 2015-10-16T17:45:27Z
has db xref: GARD:9688
has db xref: ICD10CM:H18.52
has db xref: ICD9CM:371.51
has db xref: MESH:D053559
has db xref: MIM:PS122100
has db xref: NCI:C84795
has db xref: ORDO:98954
has db xref: SNOMEDCT_US_2023_03_01:193833008
has db xref: UMLS_CUI:C0339277
has exact synonym: MECD
has exact synonym: Stocker-Holt dystrophy
has exact synonym: juvenile hereditary epithelial dystrophy
has OBO namespace: disease_ontology
id: DOID:0060451
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Meesmann corneal dystrophy
annotated property: IAO_0000115
annotated target: An epithelial and subepithelial dystrophy that is characterized by the formation of tiny round cysts in the corneal epithelium.
has db xref: url:https://ghr.nlm.nih.gov/condition/meesmann-corneal-dystrophy

Axiom
annotated source: Meesmann corneal dystrophy
annotated property: hasExactSynonym
annotated target: MECD
has synonym type: OMO_0003012

Desbuquois dysplasia
type: Class
subclass of: osteochondrodysplasia
IAO_0000115: An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx.
creation date: 2015-11-02T16:22:42Z
has db xref: GARD:1818
has db xref: MESH:C535943
has db xref: MIM:251450
has db xref: MIM:615777
has db xref: NCI:C124056
has db xref: ORDO:1425
has db xref: SNOMEDCT_US_2023_03_01:254099008
has db xref: UMLS_CUI:C0432242
has exact synonym: Desbuquois syndrome
has exact synonym: micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification
has OBO namespace: disease_ontology
id: DOID:0060462
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Desbuquois dysplasia
annotated property: IAO_0000115
annotated target: An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/19853239
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/21037275

NUT midline carcinoma
type: Class
subclass of: carcinoma
IAO_0000115: A carcinoma that is characterized by a BRD4-NUT translocation involving the rearrangement of the bromodomain-containing protein 4 (BRD4) and the gene encoding nuclear protein of the testis (NUT) at 15q14, BRD4-NUT t(15;19)(q14;q13.1) and arises from midline epithelial structures, most commonly the head, neck, and mediastinum.
creation date: 2015-11-04T14:54:36Z
has db xref: NCI:C45716
has db xref: SNOMEDCT_US_2023_03_01:733922002
has db xref: UMLS_CUI:C1707291
has exact synonym: nuclear protein in testis midline carcinoma
has OBO namespace: disease_ontology
id: DOID:0060463
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: NUT midline carcinoma
annotated property: IAO_0000115
annotated target: A carcinoma that is characterized by a BRD4-NUT translocation involving the rearrangement of the bromodomain-containing protein 4 (BRD4) and the gene encoding nuclear protein of the testis (NUT) at 15q14, BRD4-NUT t(15;19)(q14;q13.1) and arises from midline epithelial structures, most commonly the head, neck, and mediastinum.
type: ECO_0007638
type: ECO_0007645
has db xref: url:https://en.wikipedia.org/wiki/NUT_midline_carcinoma
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/21221870
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/25685583
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/26378054
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/26402248

Holt-Oram syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by congenital anomalies located_in heart and located_in upper limb.
creation date: 2015-11-17T16:06:23Z
has db xref: GARD:6666
has db xref: ICD10CM:Q87.2
has db xref: MESH:C535326
has db xref: MIM:142900
has db xref: NCI:C125592
has db xref: ORDO:392
has db xref: SNOMEDCT_US_2023_03_01:205814003
has db xref: UMLS_CUI:C0265264
has exact synonym: atrio-digital syndrome
has exact synonym: atriodigital dysplasia
has exact synonym: heart-hand syndrome
has OBO namespace: disease_ontology
id: DOID:0060468
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Holt-Oram syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by congenital anomalies located_in heart and located_in upper limb.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://ghr.nlm.nih.gov/condition/holt-oram-syndrome
has db xref: url:https://en.wikipedia.org/wiki/Holt-Oram_syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/12223419
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/12436037

Miller-Dieker lissencephaly syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene.
creation date: 2015-11-17T16:22:00Z
has db xref: ICD10CM:Q93.88
has db xref: MESH:D054221
has db xref: MIM:247200
has db xref: NCI:C124852
has db xref: ORDO:531
has db xref: SNOMEDCT_US_2023_03_01:253148005
has db xref: UMLS_CUI:C0265219
has exact synonym: MDS
has exact synonym: Miller-Dieker syndrome
has OBO namespace: disease_ontology
id: DOID:0060469
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Miller-Dieker lissencephaly syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://ghr.nlm.nih.gov/condition/miller-dieker-syndrome
has db xref: url:https://en.wikipedia.org/wiki/Miller-Dieker_syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/21239872
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/9473821

Axiom
annotated source: Miller-Dieker lissencephaly syndrome
annotated property: hasExactSynonym
annotated target: MDS
has synonym type: OMO_0003012

fetal valproate syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction.
creation date: 2015-11-17T16:47:50Z
has db xref: MESH:C536525
has db xref: MIM:609442
has db xref: NCI:C98930
has db xref: ORDO:1906
has db xref: SNOMEDCT_US_2023_03_01:205792006
has db xref: UMLS_CUI:C0236026
has exact synonym: fetal valproic acid syndrome
has exact synonym: foetal valproate syndrome
has exact synonym: foetal valproic acid syndrome
has OBO namespace: disease_ontology
id: DOID:0060471
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: fetal valproate syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/17090909
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/25400349

Kabuki syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects.
creation date: 2015-11-18T16:21:35Z
has db xref: GARD:6810
has db xref: MESH:C537705
has db xref: MIM:147920
has db xref: MIM:300867
has db xref: NCI:C124837
has db xref: ORDO:2322
has db xref: SNOMEDCT_US_2023_03_01:205805008
has db xref: UMLS_CUI:C0796004
has exact synonym: KMS
has exact synonym: Kabuki make up syndrome
has exact synonym: Niikawa-Kuroki syndrome
has OBO namespace: disease_ontology
id: DOID:0060473
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Kabuki syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://ghr.nlm.nih.gov/condition/kabuki-syndrome
has db xref: url:https://en.wikipedia.org/wiki/Kabuki_syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/25281733
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/25972376
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/26512256

Axiom
annotated source: Kabuki syndrome
annotated property: hasExactSynonym
annotated target: KMS
has synonym type: OMO_0003012

Zika fever
type: Class
subclass of: DOID 934
IAO_0000115: A viral infectious disease that has_material_basis_in Zika virus (Orthoflavivirus zikaense), which is transmitted_by Aedes aegypti mosquitoes and targets neural progenitor cells and neuronal cells in all stages of maturity and has_symptom fever, has_symptom rash, has_symptom headaches and has_symptom joint pain.
has db xref: GARD:12894
has db xref: ICD10CM:A92.8
has db xref: ICD9CM:066.3
has db xref: MESH:D000071243
has db xref: NCI:C128423
has db xref: ORDO:448237
has db xref: SNOMEDCT_US_2025_05_01:3928002
has db xref: UMLS_CUI:C0276289
has exact synonym: Zika virus disease
has OBO namespace: disease_ontology
id: DOID:0060478
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus
broad match: ICD10CM:A92.8
broad match: ICD9CM:066.3

Axiom
annotated source: Zika fever
annotated property: IAO_0000115
annotated target: A viral infectious disease that has_material_basis_in Zika virus (Orthoflavivirus zikaense), which is transmitted_by Aedes aegypti mosquitoes and targets neural progenitor cells and neuronal cells in all stages of maturity and has_symptom fever, has_symptom rash, has_symptom headaches and has_symptom joint pain.
type: ECO_0007637
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Zika_fever
has db xref: url:https://www.cdc.gov/zika/about/
has db xref: url:https://www.ecdc.europa.eu/en/zika-virus-disease
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK430981/
has db xref: url:https://www.who.int/news-room/fact-sheets/detail/zika-virus

Mowat-Wilson syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and has_material_basis_in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22.
has db xref: GARD:9673
has db xref: MESH:C536990
has db xref: MIM:235730
has db xref: NCI:C74999
has db xref: ORDO:2152
has db xref: SNOMEDCT_US_2023_03_01:703535000
has db xref: UMLS_CUI:C1856113
has exact synonym: Hirschsprung disease mental retardation syndrome
has exact synonym: microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease
has OBO namespace: disease_ontology
id: DOID:0060485
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Mowat-Wilson syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and has_material_basis_in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22.
type: ECO_0007645
has db xref: url:https://research.nhgri.nih.gov/atlas/condition/mowat-wilson-syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/17958891
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/23466526

Pitt-Hopkins syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21.
has db xref: GARD:4372
has db xref: MESH:C537403
has db xref: MIM:610954
has db xref: NCI:C129872
has db xref: ORDO:2896
has db xref: SNOMEDCT_US_2023_03_01:702344008
has db xref: UMLS_CUI:C1970431
has OBO namespace: disease_ontology
id: DOID:0060488
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Pitt-Hopkins syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://ghr.nlm.nih.gov/condition/pitt-hopkins-syndrome
has db xref: url:https://en.wikipedia.org/wiki/Pitt-Hopkins_syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/17436255
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/26621827
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/728011

Schimke immuno-osseous dysplasia
type: Class
subclass of: osteochondrodysplasia
IAO_0000115: A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene.
has db xref: GARD:4984
has db xref: MESH:C536629
has db xref: MIM:242900
has db xref: NCI:C135087
has db xref: ORDO:1830
has db xref: SNOMEDCT_US_2023_03_01:723995003
has db xref: UMLS_CUI:C0877024
has exact synonym: Schimke immunoosseous dysplasia
has exact synonym: Schimke syndrome
has exact synonym: immunoosseous dysplasia Schimke type
has exact synonym: spondyloepiphyseal dysplasia - nephrotic syndrome
has OBO namespace: disease_ontology
id: DOID:0060490
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Schimke immuno-osseous dysplasia
annotated property: IAO_0000115
annotated target: A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene.
type: ECO_0007637
type: ECO_0007645
type: ECO_0007646
has db xref: url:http://ghr.nlm.nih.gov/condition/schimke-immuno-osseous-dysplasia
has db xref: url:http://www.ncbi.nlm.nih.gov/books/NBK1376/
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/10653321

hepatoid adenocarcinoma
type: Class
subclass of: adenocarcinoma
IAO_0000115: An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver.
has db xref: ICDO:8576/3
has db xref: NCI:C66950
has OBO namespace: disease_ontology
id: DOID:0060534
in subset: NCIthesaurus

Axiom
annotated source: hepatoid adenocarcinoma
annotated property: IAO_0000115
annotated target: An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Adenocarcinoma

luminal breast carcinoma A
type: Class
subclass of: breast carcinoma
IAO_0000115: A breast carcinoma that is characterized by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3.
has broad synonym: breast tumor luminal
has broad synonym: luminal breast cancer
has db xref: NCI:C53554
has db xref: UMLS_CUI:C3642345
has exact synonym: Luminal A Breast Carcinoma
has OBO namespace: disease_ontology
id: DOID:0060548
in subset: NCIthesaurus

Axiom
annotated source: luminal breast carcinoma A
annotated property: IAO_0000115
annotated target: A breast carcinoma that is characterized by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3.
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4167319/

von Willebrand's disease 1
type: Class
subclass of: von Willebrand's disease
IAO_0000115: A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has_material_basis_in heterozygous mutation in the VWF gene on chromosome 12p13.
has db xref: ICD10CM:D68.01
has db xref: MESH:D056725
has db xref: MIM:193400
has db xref: NCI:C131685
has db xref: SNOMEDCT_US_2023_03_01:128106003
has db xref: UMLS_CUI:C1264039
has exact synonym: VWD type 1
has exact synonym: VWD1
has exact synonym: von Willebrand disease type 1
has exact synonym: von Willebrand disease type I
has OBO namespace: disease_ontology
id: DOID:0060573
in subset: NCIthesaurus

Axiom
annotated source: von Willebrand's disease 1
annotated property: IAO_0000115
annotated target: A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has_material_basis_in heterozygous mutation in the VWF gene on chromosome 12p13.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/16889557
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/8456432

Axiom
annotated source: von Willebrand's disease 1
annotated property: hasExactSynonym
annotated target: VWD1
has synonym type: OMO_0003012

WHIM syndrome 1
type: Class
subclass of: DOID 612
IAO_0000115: An immunodeficiency disease that is characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus infection and that has_material_basis_in heterozygous mutation in the CXCR4 gene on chromosome 2q22.
has db xref: GARD:9297
has db xref: MESH:C536697
has db xref: MIM:193670
has db xref: NCI:C176819
has db xref: SNOMEDCT_US_2023_03_01:234571003
has db xref: UMLS_CUI:C0472817
has exact synonym: WHIMS
has exact synonym: warts, hypogammaglobulinemia, infections, and myelokathexis
has exact synonym: warts-hypogammaglobulinemia-infections-myelokathexis syndrome
has OBO namespace: disease_ontology
id: DOID:0060591
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: WHIM syndrome 1
annotated property: IAO_0000115
annotated target: An immunodeficiency disease that is characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus infection and that has_material_basis_in heterozygous mutation in the CXCR4 gene on chromosome 2q22.
type: ECO_0007638
type: ECO_0007645
has db xref: url:https://en.wikipedia.org/wiki/WHIM_syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/10767001

Axiom
annotated source: WHIM syndrome 1
annotated property: hasExactSynonym
annotated target: WHIMS
has synonym type: OMO_0003012

B-cell adult acute lymphocytic leukemia
type: Class
subclass of: DOID 5604
IAO_0000115: An adult acute lymphoblastic leukemia occurring in adults and that has_material_basis_in B lymphocytes.
has db xref: NCI:C9143
has exact synonym: B-cell adult acute lymphocytic leukaemia
has exact synonym: adult B acute lymphoblastic leukaemia
has exact synonym: adult B acute lymphoblastic leukemia
has exact synonym: adult B-lymphoblastic leukaemia
has exact synonym: adult B-lymphoblastic leukemia
has exact synonym: adult b-cell acute lymphoblastic leukaemia
has exact synonym: adult b-cell acute lymphoblastic leukemia
has exact synonym: adult b-cell lymphocytic leukaemia
has exact synonym: adult b-cell lymphocytic leukemia
has OBO namespace: disease_ontology
id: DOID:0060592
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: B-cell adult acute lymphocytic leukemia
annotated property: IAO_0000115
annotated target: An adult acute lymphoblastic leukemia occurring in adults and that has_material_basis_in B lymphocytes.
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C9143

atypical chronic myeloid leukemia, BCR-ABL1 negative
type: Class
subclass of: DOID 4972
IAO_0000115: A myelodysplastic myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene.
has alternative id: DOID:8747
has db xref: ICD10CM:C92.2
has db xref: ICD9CM:205.2
has db xref: ICDO:9876/3
has db xref: MESH:D054438
has db xref: NCI:C3519
has db xref: ORDO:98824
has db xref: SNOMEDCT_US_2023_03_01:128826001
has db xref: UMLS_CUI:C1292772
has exact synonym: aCML
has exact synonym: atypical CML
has exact synonym: atypical chronic myeloid leukaemia
has exact synonym: atypical chronic myeloid leukaemia BCR-ABL1 negative
has exact synonym: atypical chronic myeloid leukemia BCR-ABL1 negative
has exact synonym: subacute myeloid leukemia
has OBO namespace: disease_ontology
id: DOID:0060597
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: atypical chronic myeloid leukemia, BCR-ABL1 negative
annotated property: IAO_0000115
annotated target: A myelodysplastic myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene.
type: ECO_0007636
type: ECO_0007645
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.08e&ns=NCI_Thesaurus&code=C3519
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/29226717

Axiom
annotated source: atypical chronic myeloid leukemia, BCR-ABL1 negative
annotated property: hasExactSynonym
annotated target: aCML
has synonym type: OMO_0003012

megacystis-microcolon-intestinal hypoperistalsis syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome that is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis.
has db xref: MESH:C536138
has db xref: MIM:155310
has db xref: NCI:C98982
has db xref: ORDO:2241
has db xref: SNOMEDCT_US_2023_03_01:253781004
has db xref: UMLS_CUI:C1608393
has exact synonym: Berdon syndrome
has exact synonym: Megacystis microcolon intestinal hypoperistalsis syndrome
has exact synonym: megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH
has exact synonym: visceral myopathy
has OBO namespace: disease_ontology
id: DOID:0060610
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: megacystis-microcolon-intestinal hypoperistalsis syndrome
annotated property: IAO_0000115
annotated target: A syndrome that is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007645
has db xref: url:https://en.wikipedia.org/wiki/Berdon_syndrome
has db xref: url:https://rarediseases.info.nih.gov/diseases/3442/megacystis-microcolon-intestinal-hypoperistalsis-syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/21792650
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/25407000

primary sclerosing cholangitis
type: Class
subclass of: DOID 9446
IAO_0000115: A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension.
has db xref: GARD:1280
has db xref: ICD10CM:K83.01
has db xref: MESH:D015209
has db xref: MIM:613806
has db xref: NCI:C4828
has db xref: ORDO:171
has db xref: SNOMEDCT_US_2023_03_01:4032000
has db xref: UMLS_CUI:C0566602
has OBO namespace: disease_ontology
id: DOID:0060643
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: primary sclerosing cholangitis
annotated property: IAO_0000115
annotated target: A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/7877651

autosomal recessive congenital ichthyosis
type: Class
subclass of: skin disease
IAO_0000115: An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization.
has alternative id: DOID:1699
has db xref: ICD10CM:Q80.2
has db xref: MESH:D017490
has db xref: MIM:PS242300
has db xref: NCI:C84805
has db xref: ORDO:281097
has db xref: SNOMEDCT_US_2023_03_01:12215009
has db xref: UMLS_CUI:C0079154
has exact synonym: ARCI
has exact synonym: lamellar ichthyosis
has exact synonym: non bullous congenital ichthyosiform erythroderma
has OBO namespace: disease_ontology
id: DOID:0060655
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: autosomal recessive congenital ichthyosis
annotated property: IAO_0000115
annotated target: An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization.
type: ECO_0007637
type: ECO_0007645
type: ECO_0007646
has db xref: url:https://ghr.nlm.nih.gov/condition/nonbullous-congenital-ichthyosiform-erythroderma#inheritance
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK1420/
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/20643494

Axiom
annotated source: autosomal recessive congenital ichthyosis
annotated property: hasExactSynonym
annotated target: ARCI
has synonym type: OMO_0003012

Muenke Syndrome
type: Class
subclass of: craniosynostosis
IAO_0000115: A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3.
has db xref: GARD:7097
has db xref: MESH:C537369
has db xref: MIM:602849
has db xref: NCI:C84904
has db xref: ORDO:53271
has db xref: SNOMEDCT_US_2023_03_01:440350001
has db xref: UMLS_CUI:C1864436
has exact synonym: FGFR3-related craniosynostosis
has OBO namespace: disease_ontology
id: DOID:0060703
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Muenke Syndrome
annotated property: IAO_0000115
annotated target: A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/18000976
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/9042914

Pendred Syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q.
has db xref: GARD:4271
has db xref: ICD10CM:E07.1
has db xref: MESH:C536648
has db xref: MIM:274600
has db xref: NCI:C121745
has db xref: ORDO:705
has db xref: SNOMEDCT_US_2023_03_01:70348004
has db xref: UMLS_CUI:C0271829
has exact synonym: TDH2B
has exact synonym: congenital hypothyroidism due to dyshormonogenesis 2B
has exact synonym: deafness with goiter
has exact synonym: genetic defect in thyroid hormonogenesis 2B
has exact synonym: goiter-deafness syndrome
has exact synonym: thyroid dyshormonogenesis 2B
has OBO namespace: disease_ontology
id: DOID:0060744
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Pendred Syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/9398842

Axiom
annotated source: Pendred Syndrome
annotated property: hasExactSynonym
annotated target: TDH2B
has synonym type: OMO_0003012

immunodeficiency with hyper-IgM type 2
type: Class
subclass of: hyper IgM syndrome
IAO_0000115: A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13.
has db xref: GARD:10578
has db xref: MIM:605258
has db xref: NCI:C129074
has db xref: ORDO:101089
has db xref: UMLS_CUI:C1720956
has exact synonym: AID deficiency
has exact synonym: HIGM2
has exact synonym: activation-induced cytidine deaminase deficiency
has exact synonym: hyper-IgM syndrome type 2
has OBO namespace: disease_ontology
id: DOID:0060758
in subset: DO rare slim
in subset: NCIthesaurus
broad match: ORDO:183666

Axiom
annotated source: immunodeficiency with hyper-IgM type 2
annotated property: IAO_0000115
annotated target: A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/11007475

Axiom
annotated source: immunodeficiency with hyper-IgM type 2
annotated property: hasExactSynonym
annotated target: HIGM2
has synonym type: OMO_0003012

immunodeficiency with hyper-IgM type 4
type: Class
subclass of: hyper IgM syndrome
IAO_0000115: A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process.
has db xref: GARD:10580
has db xref: MESH:C564277
has db xref: MIM:608184
has db xref: ORDO:101091
has db xref: UMLS_CUI:C1842413
has exact synonym: HIGM4
has exact synonym: hyper-IgM syndrome type 4
has OBO namespace: disease_ontology
id: DOID:0060760
in subset: DO rare slim
in subset: NCIthesaurus
broad match: ORDO:183666

Axiom
annotated source: immunodeficiency with hyper-IgM type 4
annotated property: IAO_0000115
annotated target: A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/12840068

Axiom
annotated source: immunodeficiency with hyper-IgM type 4
annotated property: hasExactSynonym
annotated target: HIGM4
has synonym type: OMO_0003012

EEC syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate).
has db xref: MESH:C536189
has db xref: NCI:C148261
has db xref: ORDO:1896
has db xref: SNOMEDCT_US_2023_03_01:39788007
has db xref: UMLS_CUI:C0406704
has exact synonym: Rudiger syndrome 1
has exact synonym: Walker-Clodius syndrome
has exact synonym: ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome
has exact synonym: ectrodactyly-ectodermal dysplasia-clefting syndrome
has OBO namespace: disease_ontology
id: DOID:0060782
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: EEC syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate).
type: ECO_0007637
has db xref: url:https://rarediseases.info.nih.gov/diseases/2076/eec-syndrome

ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
type: Class
subclass of: EEC syndrome
IAO_0000115: An EEC syndrome characterized by autosomal dominant inheritance of absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28.
has db xref: MESH:C536189
has db xref: MIM:604292
has db xref: NCI:C148261
has db xref: ORDO:1896
has db xref: SNOMEDCT_US_2023_03_01:39788007
has db xref: UMLS_CUI:C0406704
has exact synonym: EEC syndrome 3
has exact synonym: EEC3
has OBO namespace: disease_ontology
id: DOID:0060783
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
annotated property: IAO_0000115
annotated target: An EEC syndrome characterized by autosomal dominant inheritance of absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/10535733
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/8737655

Axiom
annotated source: ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
annotated property: hasExactSynonym
annotated target: EEC3
has synonym type: OMO_0003012

ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1
type: Class
subclass of: EEC syndrome
IAO_0000115: An EEC syndrome characterized by autosomal dominant inheritance that has_material_basis_in variation in the chromosome region 7q11.2-q21.3.
has db xref: MESH:C536189
has db xref: MIM:129900
has db xref: NCI:C148261
has db xref: ORDO:1896
has db xref: SNOMEDCT_US_2023_03_01:39788007
has db xref: UMLS_CUI:C0406704
has exact synonym: EEC syndrome 1
has exact synonym: EEC1
has OBO namespace: disease_ontology
id: DOID:0060784
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1
annotated property: IAO_0000115
annotated target: An EEC syndrome characterized by autosomal dominant inheritance that has_material_basis_in variation in the chromosome region 7q11.2-q21.3.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/1424230
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/5454938

Axiom
annotated source: ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1
annotated property: hasExactSynonym
annotated target: EEC1
has synonym type: OMO_0003012

syndromic X-linked intellectual disability Lubs type
type: Class
subclass of: intellectual disability
IAO_0000115: A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the MECP2 gene on chromosome Xq28.
has alternative id: DOID:0080713
has db xref: GARD:9781
has db xref: MESH:C537723
has db xref: MIM:300260
has db xref: NCI:C126747
has db xref: ORDO:85281
has db xref: SNOMEDCT_US_2023_03_01:702816000
has db xref: UMLS_CUI:C1846058
has exact synonym: Lubs X-linked mental retardation syndrome
has exact synonym: MECP2 duplication syndrome
has exact synonym: MRXSL
has exact synonym: X-linked intellectual disability-hypotonia-recurrent Infections syndrome
has exact synonym: mental retardation, X-linked, syndromic, Lubs type
has exact synonym: mental retardation, X-linked, with recurrent respiratory infections
has OBO namespace: disease_ontology
id: DOID:0060799
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: syndromic X-linked intellectual disability Lubs type
annotated property: IAO_0000115
annotated target: A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the MECP2 gene on chromosome Xq28.
type: ECO_0007645
has db xref: url:https://ghr.nlm.nih.gov/condition/mecp2-duplication-syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/15689435
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/20425814

Axiom
annotated source: syndromic X-linked intellectual disability Lubs type
annotated property: hasExactSynonym
annotated target: MRXSL
has synonym type: OMO_0003012

syndromic X-linked intellectual disability 5
type: Class
subclass of: intellectual disability
IAO_0000115: A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain that has_material_basis_in mutation in the AP1S2 gene on chromosome Xp22.
has db xref: MESH:C535773
has db xref: MIM:304340
has db xref: NCI:C124839
has db xref: ORDO:1568
has db xref: ORDO:85335
has db xref: SNOMEDCT_US_2023_03_01:719139003
has db xref: UMLS_CUI:C0796254
has exact synonym: Fried syndrome
has exact synonym: MRX59
has exact synonym: MRXS21
has exact synonym: Mental retardation, X-linked syndromic 5
has exact synonym: Pettigrew syndrome
has exact synonym: X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
has exact synonym: X-linked mental retardation 59
has exact synonym: X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures
has exact synonym: syndromic X-linked mental retardation 21
has exact synonym: syndromic X-linked mental retardation Fried type
has OBO namespace: disease_ontology
id: DOID:0060800
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: syndromic X-linked intellectual disability 5
annotated property: IAO_0000115
annotated target: A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain that has_material_basis_in mutation in the AP1S2 gene on chromosome Xp22.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/19377476
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/23756445

Axiom
annotated source: syndromic X-linked intellectual disability 5
annotated property: hasExactSynonym
annotated target: MRX59
has synonym type: OMO_0003012

Axiom
annotated source: syndromic X-linked intellectual disability 5
annotated property: hasExactSynonym
annotated target: MRXS21
has synonym type: OMO_0003012

Griscelli syndrome type 2
type: Class
subclass of: disease
IAO_0000115: A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has_material_basis_in mutation in the RAB27A gene on chromosome 15q21.3.
has db xref: GARD:4483
has db xref: MESH:C537302
has db xref: MIM:607624
has db xref: NCI:C111814
has db xref: ORDO:79477
has db xref: UMLS_CUI:C1868679
has exact synonym: GS2
has exact synonym: Griscelli syndrome with hemophagocytic syndrome
has exact synonym: Griscelli-Prunieras syndrome type 2
has exact synonym: PAID syndrome
has exact synonym: hypopigmentation-immunodeficiency with or without neurologic impairment syndrome
has exact synonym: partial albinism and immunodeficiency syndrome
has OBO namespace: disease_ontology
id: DOID:0060833
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Griscelli syndrome type 2
annotated property: IAO_0000115
annotated target: A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has_material_basis_in mutation in the RAB27A gene on chromosome 15q21.3.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/12452176
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/707528

Axiom
annotated source: Griscelli syndrome type 2
annotated property: hasExactSynonym
annotated target: GS2
has synonym type: OMO_0003012

Norrie disease
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients, and that has_material_basis_in mutation in the NDP gene on chromosome Xp11.
has db xref: GARD:7224
has db xref: MESH:C537849
has db xref: MIM:310600
has db xref: NCI:C118634
has db xref: ORDO:649
has db xref: SNOMEDCT_US_2023_03_01:15228007
has db xref: UMLS_CUI:C0266526
has exact synonym: Episkopi blindness
has exact synonym: Norrie-Warburg disease
has exact synonym: atrophia bulborum hereditaria
has OBO namespace: disease_ontology
id: DOID:0060844
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Norrie disease
annotated property: IAO_0000115
annotated target: A syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients, and that has_material_basis_in mutation in the NDP gene on chromosome Xp11.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/1303235
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/13998843
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/7627181

Leri-Weill dyschondrosteosis
type: Class
subclass of: osteochondrodysplasia
IAO_0000115: An osteochondrodysplasia characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (Madelung deformity of the wrist), and associated short stature and has_material_basis_in heterozygous defects in the pseudoautosomal genes SHOX or SHOXY or by deletion of the SHOX downstream regulatory domain.
has db xref: GARD:3224
has db xref: MESH:C537119
has db xref: MIM:127300
has db xref: NCI:C126560
has db xref: ORDO:240
has db xref: SNOMEDCT_US_2023_03_01:17818006
has db xref: UMLS_CUI:C0265309
has OBO namespace: disease_ontology
id: DOID:0060847
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Leri-Weill dyschondrosteosis
annotated property: IAO_0000115
annotated target: An osteochondrodysplasia characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (Madelung deformity of the wrist), and associated short stature and has_material_basis_in heterozygous defects in the pseudoautosomal genes SHOX or SHOXY or by deletion of the SHOX downstream regulatory domain.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007638
type: ECO_0007645
has db xref: url:https://rarediseases.org/rare-diseases/leri-weilldyschondrosteosis/
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/10713888
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/21712857
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/9590292

osteoporosis-pseudoglioma syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has_material_basis_in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13.
has db xref: GARD:4160
has db xref: MESH:C536063
has db xref: MIM:259770
has db xref: NCI:C130998
has db xref: ORDO:2788
has db xref: SNOMEDCT_US_2023_03_01:254112001
has db xref: UMLS_CUI:C0432252
has exact synonym: OPPG
has exact synonym: ocular form of osteogenesis imperfecta
has OBO namespace: disease_ontology
id: DOID:0060849
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: osteoporosis-pseudoglioma syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has_material_basis_in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/11719191
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/20034086
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/3955877

Axiom
annotated source: osteoporosis-pseudoglioma syndrome
annotated property: hasExactSynonym
annotated target: OPPG
has synonym type: OMO_0003012

annular pancreas
type: Class
subclass of: endocrine system disease
IAO_0000115: A pancreas disease characterized by autosomal dominant inheritance of the annular pancreas (head of the pancreas forming a ring around the second portion of the duodenum) and duodenal stenosis.
has db xref: GARD:705
has db xref: ICD10CM:Q45.1
has db xref: MESH:C536376
has db xref: MIM:167750
has db xref: NCI:C98813
has db xref: ORDO:675
has db xref: SNOMEDCT_US_2023_03_01:40315008
has db xref: UMLS_CUI:C0149955
has OBO namespace: disease_ontology
id: DOID:0060850
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: annular pancreas
annotated property: IAO_0000115
annotated target: A pancreas disease characterized by autosomal dominant inheritance of the annular pancreas (head of the pancreas forming a ring around the second portion of the duodenum) and duodenal stenosis.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/1860255
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/677171

pemphigus vulgaris
type: Class
subclass of: DOID 9182
IAO_0000115: A pemphigus characterized by autosomal dominant blisters and erosions on the skin and mucous membranes erosions cause by autoantibodies to intercellular cement substance.
has db xref: GARD:7355
has db xref: ICD10CM:L10.0
has db xref: MESH:D010392
has db xref: MIM:169610
has db xref: NCI:C34910
has db xref: ORDO:704
has db xref: SNOMEDCT_US_2023_03_01:49420001
has db xref: UMLS_CUI:C0030809
has exact synonym: familial pemphigus vulgaris
has OBO namespace: disease_ontology
id: DOID:0060851
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: pemphigus vulgaris
annotated property: IAO_0000115
annotated target: A pemphigus characterized by autosomal dominant blisters and erosions on the skin and mucous membranes erosions cause by autoantibodies to intercellular cement substance.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/2217197
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/4577497

Pierson syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p21.
has db xref: GARD:9420
has db xref: MESH:C537185
has db xref: MIM:609049
has db xref: NCI:C128145
has db xref: ORDO:2670
has db xref: SNOMEDCT_US_2023_03_01:723449004
has db xref: UMLS_CUI:C1836876
has exact synonym: microcoria-congenital nephrosis syndrome
has OBO namespace: disease_ontology
id: DOID:0060852
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Pierson syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p21.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/15367484
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/15372515

Potocki-Lupski syndrome
type: Class
subclass of: DOID 630
IAO_0000115: A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in contiguous gene syndrome caused by duplication of chromosome 17p11.2.
has db xref: GARD:10145
has db xref: MESH:C538355
has db xref: MIM:610883
has db xref: NCI:C124846
has db xref: ORDO:1713
has db xref: SNOMEDCT_US_2023_03_01:734016004
has db xref: UMLS_CUI:C2931246
has exact synonym: 17p11.2 microduplication syndrome
has exact synonym: chromosome 17p11.2 duplication syndrome
has exact synonym: trisomy 17p11.2
has OBO namespace: disease_ontology
id: DOID:0060853
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Potocki-Lupski syndrome
annotated property: IAO_0000115
annotated target: A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in contiguous gene syndrome caused by duplication of chromosome 17p11.2.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/10615134
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/20425816

autosomal recessive pseudohypoaldosteronism type 1
type: Class
subclass of: DOID 4479
IAO_0000115: A pseudohypoaldosteronism characterized by enal salt wasting and high concentrations of sodium in sweat, stool, and saliva that has_material_basis_in homozygous or compound heterozygous mutation in any one of 3 genes encoding subunits of the epithelial sodium channel (ENaC): SCNN1A, SCNN1B, or SCNN1G.
has db xref: GARD:4552
has db xref: MESH:D011546
has db xref: MIM:264350
has db xref: NCI:C123251
has db xref: ORDO:171876
has db xref: ORDO:756
has db xref: SNOMEDCT_US_2023_03_01:43941006
has db xref: UMLS_CUI:C0268436
has exact synonym: PHA1B
has exact synonym: autosomal recessive PHA 1
has OBO namespace: disease_ontology
id: DOID:0060854
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: autosomal recessive pseudohypoaldosteronism type 1
annotated property: IAO_0000115
annotated target: A pseudohypoaldosteronism characterized by enal salt wasting and high concentrations of sodium in sweat, stool, and saliva that has_material_basis_in homozygous or compound heterozygous mutation in any one of 3 genes encoding subunits of the epithelial sodium channel (ENaC): SCNN1A, SCNN1B, or SCNN1G.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/10202170
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/10404817
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/8589714

Axiom
annotated source: autosomal recessive pseudohypoaldosteronism type 1
annotated property: hasExactSynonym
annotated target: PHA1B
has synonym type: OMO_0003012

septooptic dysplasia
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the homeobox gene HESX1 on chromosome 3p14.
has db xref: GARD:7627
has db xref: MESH:D025962
has db xref: MIM:182230
has db xref: NCI:C85063
has db xref: ORDO:3157
has db xref: SNOMEDCT_US_2023_03_01:204073006
has db xref: UMLS_CUI:C0338503
has exact synonym: De Morsier syndrome
has exact synonym: SOD
has exact synonym: septo-optic dysplasia
has OBO namespace: disease_ontology
id: DOID:0060857
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: septooptic dysplasia
annotated property: IAO_0000115
annotated target: A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the homeobox gene HESX1 on chromosome 3p14.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/8696006
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/9620767

Axiom
annotated source: septooptic dysplasia
annotated property: hasExactSynonym
annotated target: SOD
has synonym type: OMO_0003012

isolated growth hormone deficiency
type: Class
subclass of: DOID 9406
IAO_0000115: A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones.
has db xref: GARD:12556
has db xref: ICD10CM:E23.0
has db xref: ICD9CM:253.3
has db xref: MESH:D004393
has db xref: NCI:C34555
has db xref: ORDO:631
has db xref: SNOMEDCT_US_2023_03_01:270485009
has db xref: UMLS_CUI:C0013338
has exact synonym: IGHD
has exact synonym: congenital IGHD
has exact synonym: congenital isolated GH deficiency
has exact synonym: congenital isolated growth hormone deficiency
has exact synonym: familial isolated growth hormone deficiency
has exact synonym: non-acquired isolated growth hormone deficiency
has OBO namespace: disease_ontology
id: DOID:0060870
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: isolated growth hormone deficiency
annotated property: IAO_0000115
annotated target: A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/8288694

Axiom
annotated source: isolated growth hormone deficiency
annotated property: hasExactSynonym
annotated target: IGHD
has synonym type: OMO_0003012

bullous congenital ichthyosiform erythroderma
type: Class
subclass of: skin disease
IAO_0000115: An ichthyosis characterized by congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance, and that has_material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13.
has db xref: GARD:2966
has db xref: MESH:D053560
has db xref: MIM:146800
has db xref: NCI:C84777
has db xref: ORDO:455
has db xref: SNOMEDCT_US_2023_03_01:254169002
has db xref: UMLS_CUI:C0432306
has exact synonym: bullous type ichthyosis
has exact synonym: ichthyosis bullosa of Siemens
has exact synonym: superficial epidermolytic ichthyosis
has OBO namespace: disease_ontology
id: DOID:0060877
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: bullous congenital ichthyosiform erythroderma
annotated property: IAO_0000115
annotated target: An ichthyosis characterized by congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance, and that has_material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/4247927
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/7524919

hypoparathyroidism-deafness-renal disease syndrome
type: Class
subclass of: DOID 630
IAO_0000115: A chromosomal deletion syndrome that is characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure and that has_material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14.
has db xref: MESH:C537907
has db xref: MIM:146255
has db xref: NCI:C130983
has db xref: ORDO:2237
has db xref: SNOMEDCT_US_2023_03_01:724282009
has db xref: UMLS_CUI:C1840333
has exact synonym: Barakat syndrome
has exact synonym: HDR syndrome
has exact synonym: hypoparathyroidism, sensorineural deafness, and renal disease
has OBO namespace: disease_ontology
id: DOID:0060878
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: hypoparathyroidism-deafness-renal disease syndrome
annotated property: IAO_0000115
annotated target: A chromosomal deletion syndrome that is characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure and that has_material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/10935639
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/874665

lymphoplasmacytic lymphoma
type: Class
subclass of: DOID 707
IAO_0000115: A B-cell lymphoma characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein.
has alternative id: DOID:0050747
has db xref: GARD:7872
has db xref: ICD10CM:C88.0
has db xref: ICD9CM:273.3
has db xref: ICDO:9671/3
has db xref: MESH:D008258
has db xref: MIM:153600
has db xref: MIM:610430
has db xref: NCI:C115212
has db xref: NCI:C80307
has db xref: ORDO:33226
has db xref: SNOMEDCT_US_2023_03_01:35562000
has db xref: UMLS_CUI:C0024419
has db xref: UMLS_CUI:C2936755
has exact synonym: Waldenstroem's macroglobulinemia
has exact synonym: Waldenstrom Macroglobulinemia
has exact synonym: lymphoplasmacytic lymphoma with IgM gammopathy
has OBO namespace: disease_ontology
id: DOID:0060901
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Lymphoplasmacytic lymphoma, also known as Waldenstrom macroglobulinemia.

Axiom
annotated source: lymphoplasmacytic lymphoma
annotated property: IAO_0000115
annotated target: A B-cell lymphoma characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein.
type: ECO_0007636
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/10632755

coronary atherosclerosis
type: Class
subclass of: atherosclerosis
IAO_0000115: An atherosclerosis of the coronary vasculature.
has db xref: NCI:C35505
has OBO namespace: disease_ontology
id: DOID:0061139
in subset: NCIthesaurus

Axiom
annotated source: coronary atherosclerosis
annotated property: IAO_0000115
annotated target: An atherosclerosis of the coronary vasculature.
type: ECO_0007646
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK218744/

NESCAV syndrome
type: Class
subclass of: intellectual disability
IAO_0000115: An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIF1A gene on chromosome 2q37.3.
has db xref: MIM:614255
has db xref: NCI:C133742
has db xref: UMLS_CUI:C3280283
has exact synonym: MRD9
has exact synonym: NESCAVS
has exact synonym: autosomal dominant intellectual disability 9
has exact synonym: autosomal dominant mental retardation 9
has exact synonym: autosomal dominant non-syndromic intellectual disability 9
has exact synonym: neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment
has OBO namespace: disease_ontology
id: DOID:0070039
in subset: NCIthesaurus

Axiom
annotated source: NESCAV syndrome
annotated property: IAO_0000115
annotated target: An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIF1A gene on chromosome 2q37.3.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/21376300

Axiom
annotated source: NESCAV syndrome
annotated property: hasExactSynonym
annotated target: MRD9
has synonym type: OMO_0003012

Axiom
annotated source: NESCAV syndrome
annotated property: hasExactSynonym
annotated target: NESCAVS
has synonym type: OMO_0003012

hereditary sensory and autonomic neuropathy type 5
type: Class
subclass of: DOID 870
IAO_0000115: A hereditary sensory neuropathy characterized by impaired pain and thermal perception in the extremities and selective reduction in small myelinated fibers that has_material_basis_in homozygous mutation in the NGF gene on chromosome 1p13.
has db xref: GARD:12328
has db xref: MESH:D000699
has db xref: MESH:D009477
has db xref: MIM:608654
has db xref: NCI:C156360
has db xref: ORDO:608654
has db xref: SNOMEDCT_US_2023_03_01:128206006
has db xref: SNOMEDCT_US_2023_03_01:403605007
has db xref: UMLS_CUI:C0002768
has db xref: UMLS_CUI:C0020075
has exact synonym: HSAN5
has exact synonym: hereditary sensory and autonomic neuropathy type V
has OBO namespace: disease_ontology
id: DOID:0070145
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: hereditary sensory and autonomic neuropathy type 5
annotated property: IAO_0000115
annotated target: A hereditary sensory neuropathy characterized by impaired pain and thermal perception in the extremities and selective reduction in small myelinated fibers that has_material_basis_in homozygous mutation in the NGF gene on chromosome 1p13.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/14976160
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/77656

Axiom
annotated source: hereditary sensory and autonomic neuropathy type 5
annotated property: hasExactSynonym
annotated target: HSAN5
has synonym type: OMO_0003012

hereditary sensory neuropathy type 4
type: Class
subclass of: DOID 870
IAO_0000115: A hereditary sensory neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23.
has db xref: GARD:3006
has db xref: MESH:D009477
has db xref: MIM:256800
has db xref: NCI:C118633
has db xref: ORDO:642
has db xref: SNOMEDCT_US_2023_03_01:62985007
has db xref: UMLS_CUI:C0020074
has exact synonym: hereditary sensory neuropathy type IV
has exact synonym: insensitivity to pain, congenital, with anhidrosis
has OBO namespace: disease_ontology
id: DOID:0070146
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: hereditary sensory neuropathy type 4
annotated property: IAO_0000115
annotated target: A hereditary sensory neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/14272277
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/8696348

hereditary sensory and autonomic neuropathy type 1
type: Class
subclass of: DOID 870
IAO_0000115: A hereditary sensory neuropathy characterized by slowly progressing, prominent, predominantly distal sensory loss and autonomic disturbances with juvenile or adult onset and autosomal dominant inheritance.
has db xref: GARD:6635
has db xref: MESH:D009477
has db xref: NCI:C170433
has db xref: ORDO:36386
has db xref: SNOMEDCT_US_2023_03_01:52647008
has db xref: UMLS_CUI:C0020071
has exact synonym: HSAN1
has exact synonym: hereditary sensory and autonomic neuropathy type I
has OBO namespace: disease_ontology
id: DOID:0070162
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: hereditary sensory and autonomic neuropathy type 1
annotated property: IAO_0000115
annotated target: A hereditary sensory neuropathy characterized by slowly progressing, prominent, predominantly distal sensory loss and autonomic disturbances with juvenile or adult onset and autosomal dominant inheritance.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/18348718

Axiom
annotated source: hereditary sensory and autonomic neuropathy type 1
annotated property: hasExactSynonym
annotated target: HSAN1
has synonym type: OMO_0003012

spermatogenic failure 6
type: Class
subclass of: reproductive system disease
IAO_0000115: A male infertility characterized by autosomal recessive inheritance of globozoospermia that has_material_basis_in mutation in the SPATA16 gene on chromosome 3q26.
has db xref: MESH:D000072660
has db xref: MIM:102530
has db xref: NCI:C158500
has exact synonym: SPGF6
has OBO namespace: disease_ontology
id: DOID:0070167
in subset: NCIthesaurus

Axiom
annotated source: spermatogenic failure 6
annotated property: IAO_0000115
annotated target: A male infertility characterized by autosomal recessive inheritance of globozoospermia that has_material_basis_in mutation in the SPATA16 gene on chromosome 3q26.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/17847006

Axiom
annotated source: spermatogenic failure 6
annotated property: hasExactSynonym
annotated target: SPGF6
has synonym type: OMO_0003012

familial partial lipodystrophy type 2
type: Class
subclass of: familial partial lipodystrophy
IAO_0000115: A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21.
has db xref: GARD:3126
has db xref: MESH:D052496
has db xref: MIM:151660
has db xref: NCI:C165527
has db xref: ORDO:2348
has db xref: SNOMEDCT_US_2023_03_01:715439000
has db xref: UMLS_CUI:C1720860
has exact synonym: FPLD2
has exact synonym: familial lipodystrophy of limbs and lower trunk
has exact synonym: familial partial lipodystrophy Dunnigan type
has exact synonym: reverse partial lipodystrophy
has OBO namespace: disease_ontology
id: DOID:0070202
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: familial partial lipodystrophy type 2
annotated property: IAO_0000115
annotated target: A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/10587585
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/170190

Axiom
annotated source: familial partial lipodystrophy type 2
annotated property: hasExactSynonym
annotated target: FPLD2
has synonym type: OMO_0003012

hereditary lymphedema I
type: Class
subclass of: DOID 4977
IAO_0000115: A hereditary lymphedema characterized by autosomal dominant inheritance of chronic, generally painless, lower limb lymphedema with onset typically at birth or in early childhood.
has db xref: GARD:7220
has db xref: ICD10CM:Q82.0
has db xref: MESH:D008209
has db xref: NCI:C48829
has db xref: ORDO:79452
has db xref: SNOMEDCT_US_2023_03_01:268355000
has db xref: UMLS_CUI:C1704423
has exact synonym: LMPH1
has exact synonym: Milroy disease
has exact synonym: Nonne-Milroy lymphedema
has exact synonym: PCL
has exact synonym: congenital primary lymphedema
has exact synonym: hereditary lymphedema type I
has OBO namespace: disease_ontology
id: DOID:0070212
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: hereditary lymphedema I
annotated property: IAO_0000115
annotated target: A hereditary lymphedema characterized by autosomal dominant inheritance of chronic, generally painless, lower limb lymphedema with onset typically at birth or in early childhood.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/9817924

Axiom
annotated source: hereditary lymphedema I
annotated property: hasExactSynonym
annotated target: LMPH1
has synonym type: OMO_0003012

Axiom
annotated source: hereditary lymphedema I
annotated property: hasExactSynonym
annotated target: PCL
has synonym type: OMO_0003012

familial hyperinsulinemic hypoglycemia 7
type: Class
subclass of: hyperinsulinemic hypoglycemia
IAO_0000115: A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that has_material_basis_in mutation in the SLC16A1 gene on chromosome 1p13.2.
has db xref: GARD:9932
has db xref: MESH:C538376
has db xref: MIM:610021
has db xref: NCI:C131839
has db xref: ORDO:165991
has db xref: SNOMEDCT_US_2023_03_01:715830008
has db xref: UMLS_CUI:C1864902
has exact synonym: EIHI
has exact synonym: HHF7
has exact synonym: exercise-induced hyperinsulinemic hypoglycemia
has exact synonym: exercise-induced hyperinsulinism
has exact synonym: hyperinsulinism due to SLC16A1 deficiency
has exact synonym: hyperinsulinism due to monocarboxylate transporter 1 deficiency
has OBO namespace: disease_ontology
id: DOID:0070214
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: familial hyperinsulinemic hypoglycemia 7
annotated property: IAO_0000115
annotated target: A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that has_material_basis_in mutation in the SLC16A1 gene on chromosome 1p13.2.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/17701893

Axiom
annotated source: familial hyperinsulinemic hypoglycemia 7
annotated property: hasExactSynonym
annotated target: EIHI
has synonym type: OMO_0003012

Axiom
annotated source: familial hyperinsulinemic hypoglycemia 7
annotated property: hasExactSynonym
annotated target: HHF7
has synonym type: OMO_0003012

progressive familial intrahepatic cholestasis
type: Class
subclass of: intrahepatic cholestasis
IAO_0000115: An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood.
has db xref: MIM:PS211600
has db xref: NCI:C84453
has db xref: ORDO:172
has db xref: SNOMEDCT_US_2023_03_01:74162007
has db xref: UMLS_CUI:C0268312
has exact synonym: Byler disease
has exact synonym: PFIC
has OBO namespace: disease_ontology
id: DOID:0070221
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: progressive familial intrahepatic cholestasis
annotated property: IAO_0000115
annotated target: An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/15239083
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/8014759

Axiom
annotated source: progressive familial intrahepatic cholestasis
annotated property: hasExactSynonym
annotated target: PFIC
has synonym type: OMO_0003012

benign recurrent intrahepatic cholestasis
type: Class
subclass of: intrahepatic cholestasis
IAO_0000115: An intrahepatic cholestasis characterized by intermittent, recurrent episodes of intrahepatic cholestasis mostly without progression to liver damage or extrahepatic bile duct obstruction.
has db xref: GARD:12185
has db xref: MIM:PS243300
has db xref: NCI:C84402
has db xref: ORDO:65682
has db xref: SNOMEDCT_US_2021_09_01:31155007
has exact synonym: BRIC
has exact synonym: Summerskill-Walshe-Tygstrup syndrome
has OBO namespace: disease_ontology
id: DOID:0070230
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: benign recurrent intrahepatic cholestasis
annotated property: IAO_0000115
annotated target: An intrahepatic cholestasis characterized by intermittent, recurrent episodes of intrahepatic cholestasis mostly without progression to liver damage or extrahepatic bile duct obstruction.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/23402083

Axiom
annotated source: benign recurrent intrahepatic cholestasis
annotated property: hasExactSynonym
annotated target: BRIC
has synonym type: OMO_0003012

congenital disorder of glycosylation type IIc
type: Class
subclass of: DOID 5212
IAO_0000115: A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35C1 gene on chromosome 11p11.2.
has db xref: GARD:4634
has db xref: MESH:C535755
has db xref: MIM:266265
has db xref: NCI:C4690
has db xref: ORDO:99843
has db xref: SNOMEDCT_US_2023_03_01:234583001
has db xref: UMLS_CUI:C0398739
has exact synonym: CDG IIc
has exact synonym: CDG2C
has exact synonym: CDGIIc
has exact synonym: Rambam-Hasharon syndrome
has OBO namespace: disease_ontology
id: DOID:0070255
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: congenital disorder of glycosylation type IIc
annotated property: IAO_0000115
annotated target: A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35C1 gene on chromosome 11p11.2.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/10590041

Axiom
annotated source: congenital disorder of glycosylation type IIc
annotated property: hasExactSynonym
annotated target: CDG IIc
has synonym type: OMO_0003012

Axiom
annotated source: congenital disorder of glycosylation type IIc
annotated property: hasExactSynonym
annotated target: CDG2C
has synonym type: OMO_0003012

Axiom
annotated source: congenital disorder of glycosylation type IIc
annotated property: hasExactSynonym
annotated target: CDGIIc
has synonym type: OMO_0003012

Lynch syndrome 1
type: Class
subclass of: Lynch syndrome
IAO_0000115: A Lynch syndrome that has_material_basis_in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16.
has db xref: MIM:120435
has db xref: NCI:C6725
has db xref: UMLS_CUI:C2936783
has exact synonym: COCA1
has exact synonym: FCC1
has exact synonym: HNPCC1
has exact synonym: familial nonpolyposis colon cancer type 1
has exact synonym: hereditary nonpolyposis colorectal cancer type 1
has OBO namespace: disease_ontology
id: DOID:0070271
in subset: NCIthesaurus

Axiom
annotated source: Lynch syndrome 1
annotated property: IAO_0000115
annotated target: A Lynch syndrome that has_material_basis_in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/8261515
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/8574961

Axiom
annotated source: Lynch syndrome 1
annotated property: hasExactSynonym
annotated target: COCA1
has synonym type: OMO_0003012

Axiom
annotated source: Lynch syndrome 1
annotated property: hasExactSynonym
annotated target: FCC1
has synonym type: OMO_0003012

Axiom
annotated source: Lynch syndrome 1
annotated property: hasExactSynonym
annotated target: HNPCC1
has synonym type: OMO_0003012

thiamine deficiency disease
type: Class
subclass of: nutrition disease
IAO_0000115: A nutritional deficiency disease that is characterized by low levels of thiamine.
has db xref: NCI:C34418
has db xref: SNOMEDCT_US_2021_09_01:399357009
has OBO namespace: disease_ontology
id: DOID:0070313
in subset: NCIthesaurus

Axiom
annotated source: thiamine deficiency disease
annotated property: IAO_0000115
annotated target: A nutritional deficiency disease that is characterized by low levels of thiamine.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Thiamine_deficiency

obstructive nephropathy
type: Class
subclass of: DOID 557
IAO_0000115: A kidney disease characterized by kidney damage and dysfunction resulting from urinary tract obstruction.
has db xref: NCI:C120902
has db xref: SNOMEDCT_US_2023_03_01:86249007
has db xref: UMLS_CUI:C0149939
has exact synonym: CON
has exact synonym: congenital obstructive nephropathy
has OBO namespace: disease_ontology
id: DOID:0070314
in subset: NCIthesaurus

Axiom
annotated source: obstructive nephropathy
annotated property: IAO_0000115
annotated target: A kidney disease characterized by kidney damage and dysfunction resulting from urinary tract obstruction.
type: ECO_0007638
type: ECO_0007645
has db xref: url:https://en.wikipedia.org/wiki/Obstructive_uropathy
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/24023768
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/25402279
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/26667236

Axiom
annotated source: obstructive nephropathy
annotated property: hasExactSynonym
annotated target: CON
has synonym type: OMO_0003012

hypoplastic right heart syndrome
type: Class
subclass of: congenital heart disease
IAO_0000115: A congenital heart disease characterized by underdevelopment of the structures on the right side of the heart commonly associated with atrial septal defect.
has db xref: GARD:2922
has db xref: ICD10CM:Q22.6
has db xref: NCI:C99053
has db xref: SNOMEDCT_US_2023_03_01:204348000
has db xref: UMLS_CUI:C0344963
has exact synonym: Right hypoplastic heart syndrome
has OBO namespace: disease_ontology
id: DOID:0070315
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: hypoplastic right heart syndrome
annotated property: IAO_0000115
annotated target: A congenital heart disease characterized by underdevelopment of the structures on the right side of the heart commonly associated with atrial septal defect.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/24932961
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/28009100

childhood hepatocellular carcinoma
type: Class
subclass of: DOID 684
IAO_0000115: A hepatocellular carcinoma that occurs in children and is characterized by a distinct etiological predisposition, biological behavior, and lower frequency of cirrhosis as compared to adult hepatocellular carcinoma.
has db xref: GARD:9331
has db xref: NCI:C7955
has db xref: ORDO:33402
has exact synonym: pediatric hepatocellular carcinoma
has OBO namespace: disease_ontology
id: DOID:0070322
in subset: DO cancer slim
in subset: DO childhood cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: childhood hepatocellular carcinoma
annotated property: IAO_0000115
annotated target: A hepatocellular carcinoma that occurs in children and is characterized by a distinct etiological predisposition, biological behavior, and lower frequency of cirrhosis as compared to adult hepatocellular carcinoma.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/17714939
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/28144610
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/30254403

childhood acute myeloid leukemia
type: Class
subclass of: DOID 9119
IAO_0000115: A childhood acute myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.
has db xref: ICDO:9861/3
has db xref: NCI:C9160
has exact synonym: childhood acute myeloid leukaemia
has exact synonym: paediatric acute myeloid leukaemia
has exact synonym: pediatric acute myeloid leukemia
has OBO namespace: disease_ontology
id: DOID:0070323
in subset: DO cancer slim
in subset: DO childhood cancer slim
in subset: NCIthesaurus

Axiom
annotated source: childhood acute myeloid leukemia
annotated property: IAO_0000115
annotated target: A childhood acute myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://www.danafarberbostonchildrens.org/conditions/leukemia-and-lymphoma/acute-myelogenous-leukemia.aspx
has db xref: url:https://en.wikipedia.org/wiki/Acute_myeloid_leukemia
has db xref: url:https://www.cancer.gov/types/leukemia/patient/child-aml-treatment-pdq

malignant childhood adrenal gland pheochromocytoma
type: Class
subclass of: DOID 5719
IAO_0000115: An adrenal gland pheochromocytoma that is characterized by rare chromaffin cell tumors which secrete catecholamines, and has a higher prevalence of hereditary factors and metastatis in children than adults.
has db xref: GARD:9368
has db xref: NCI:C118822
has exact synonym: malignant pediatric adrenal gland pheochromocytoma
has OBO namespace: disease_ontology
id: DOID:0070325
in subset: DO cancer slim
in subset: DO childhood cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: malignant childhood adrenal gland pheochromocytoma
annotated property: IAO_0000115
annotated target: An adrenal gland pheochromocytoma that is characterized by rare chromaffin cell tumors which secrete catecholamines, and has a higher prevalence of hereditary factors and metastatis in children than adults.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/28324046
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/28752085

spitzoid melanoma
type: Class
subclass of: DOID 8923
IAO_0000115: A skin melanoma that is characterized by asymmetric shape, diameter greater than 1 cm, a lesion with a deep invasive component, and a high degree of cytologic atypia.
has db xref: NCI:C136825
has exact synonym: atypical spitz nevus
has OBO namespace: disease_ontology
id: DOID:0070326
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: spitzoid melanoma
annotated property: IAO_0000115
annotated target: A skin melanoma that is characterized by asymmetric shape, diameter greater than 1 cm, a lesion with a deep invasive component, and a high degree of cytologic atypia.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4377413/
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/25666674
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/25834363

melanoma in congenital melanocytic nevus
type: Class
subclass of: DOID 8923
IAO_0000115: A skin melanoma that arises from a congenital melanocytic nevus.
has db xref: ICDO:8761/3
has db xref: NCI:C48613
has db xref: UMLS_CUI:C1711221
has exact synonym: Malignant melanoma in congenital melanocytic nevus
has exact synonym: melanocytic nevi
has OBO namespace: disease_ontology
id: DOID:0070327
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: melanoma in congenital melanocytic nevus
annotated property: IAO_0000115
annotated target: A skin melanoma that arises from a congenital melanocytic nevus.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/27517357
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/28078671

adult hepatocellular carcinoma
type: Class
subclass of: DOID 684
IAO_0000115: A hepatocellular carcinoma that is characterized by hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure and often develops in the setting of chronic necro-inflammation.
has db xref: NCI:C7956
has db xref: ORDO:210159
has db xref: SNOMEDCT_US_2023_03_01:1197204009
has db xref: UMLS_CUI:C0279607
has exact synonym: adult hepatoma
has exact synonym: adult primary hepatocellular carcinoma
has OBO namespace: disease_ontology
id: DOID:0070328
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: adult hepatocellular carcinoma
annotated property: IAO_0000115
annotated target: A hepatocellular carcinoma that is characterized by hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure and often develops in the setting of chronic necro-inflammation.
type: ECO_0007637
type: ECO_0007645
has db xref: url:https://www.cancer.gov/types/liver/patient/about-adult-liver-cancer-pdq
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/25979220
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/28761617
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/30254403

North Carolina macular dystrophy
type: Class
subclass of: DOID 4448
IAO_0000115: A retinal macular dystrophy characterized by limited drusen, larger confluent drusen, or severe colobomatous-like chorioretinal atrophy in the central macular region present at birth that are nonprogressive that has_material_basis_in heterozygous mutation in a DNase I hypersensitivity site on chromosome 6q16 upstream of the PRDM13 gene.
has db xref: GARD:9179
has db xref: MESH:C537835
has db xref: MIM:136550
has db xref: NCI:C168999
has db xref: ORDO:75327
has db xref: SNOMEDCT_US_2023_03_01:312925009
has db xref: UMLS_CUI:C0730294
has exact synonym: MCDR1
has exact synonym: NCMD
has exact synonym: central areolar pigment epithelial dystrophy
has exact synonym: central retinal pigment epithelial dystrophy
has exact synonym: progressive foveal dystrophy
has exact synonym: retinal macular dystrophy 1
has OBO namespace: disease_ontology
id: DOID:0070439
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: North Carolina macular dystrophy
annotated property: IAO_0000115
annotated target: A retinal macular dystrophy characterized by limited drusen, larger confluent drusen, or severe colobomatous-like chorioretinal atrophy in the central macular region present at birth that are nonprogressive that has_material_basis_in heterozygous mutation in a DNase I hypersensitivity site on chromosome 6q16 upstream of the PRDM13 gene.
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/36243009

Axiom
annotated source: North Carolina macular dystrophy
annotated property: hasExactSynonym
annotated target: MCDR1
has synonym type: OMO_0003012

Axiom
annotated source: North Carolina macular dystrophy
annotated property: hasExactSynonym
annotated target: NCMD
has synonym type: OMO_0003012

SMARCB1-deficient renal medullary carcinoma
type: Class
subclass of: DOID 4450
IAO_0000115: A renal cell carcinoma that develops in the renal medulla.
has db xref: GARD:13175
has db xref: NCI:C7572
has db xref: ORDO:319319
has db xref: SNOMEDCT_US_2023_10_01:765095002
has db xref: UMLS_CUI:C5708330
has exact synonym: RMC
has exact synonym: kidney medullary carcinoma
has exact synonym: medullary carcinoma of the kidney
has exact synonym: medullary renal cell carcinoma
has exact synonym: renal medullary carcinoma
has OBO namespace: disease_ontology
id: DOID:0070475
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: SMARCB1-deficient renal medullary carcinoma
annotated property: IAO_0000115
annotated target: A renal cell carcinoma that develops in the renal medulla.
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/28697319/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/35853783/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/36645398/

Axiom
annotated source: SMARCB1-deficient renal medullary carcinoma
annotated property: hasExactSynonym
annotated target: RMC
has synonym type: OMO_0003012

schwannomatosis 1
type: Class
subclass of: schwannomatosis
IAO_0000115: A schwannomatosis that has_material_basis_in germline heterozygous mutation in the SMARCB1 gene on chromosome 22q11.23.
has broad synonym: neurofibromatosis 3
has db xref: MIM:162091
has db xref: NCI:C186703
has db xref: UMLS_CUI:C5670707
has exact synonym: SMARCB1-related schwannomatosis
has exact synonym: SWN1
has OBO namespace: disease_ontology
id: DOID:0070480
in subset: NCIthesaurus

Axiom
annotated source: schwannomatosis 1
annotated property: IAO_0000115
annotated target: A schwannomatosis that has_material_basis_in germline heterozygous mutation in the SMARCB1 gene on chromosome 22q11.23.
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/19582488/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/35674741/

Axiom
annotated source: schwannomatosis 1
annotated property: hasExactSynonym
annotated target: SWN1
has synonym type: OMO_0003012

schwannomatosis 2
type: Class
subclass of: schwannomatosis
IAO_0000115: A schwannomatosis that has_material_basis_in germline heterozygous mutation in the LZTR1 gene on chromosome 22q11.2.
has broad synonym: neurofibromatosis 3
has db xref: MIM:615670
has db xref: NCI:C186704
has db xref: UMLS_CUI:C5670708
has exact synonym: LZTR1-related schwannomatosis
has exact synonym: SWN2
has OBO namespace: disease_ontology
id: DOID:0070481
in subset: NCIthesaurus

Axiom
annotated source: schwannomatosis 2
annotated property: IAO_0000115
annotated target: A schwannomatosis that has_material_basis_in germline heterozygous mutation in the LZTR1 gene on chromosome 22q11.2.
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/24362817/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/35674741/

Axiom
annotated source: schwannomatosis 2
annotated property: hasExactSynonym
annotated target: SWN2
has synonym type: OMO_0003012

Legius syndrome
type: Class
subclass of: syndrome
IAO_0000115: A RASopathy characterized by multiple cafe-au-lait macules and possible skin fold freckling without neurofibromas, optic gliomas, or Lisch nodules that has_material_basis_in heterozygous mutation in the SPRED1 gene on chromosome 15q14.
has db xref: GARD:10714
has db xref: MESH:C548032
has db xref: MIM:611431
has db xref: NCI:C176941
has db xref: ORDO:137605
has db xref: SNOMEDCT_US_2023_03_01:703541007
has db xref: UMLS_CUI:C1969623
has exact synonym: LGSS
has exact synonym: NF1-like syndrome
has exact synonym: neurofibromatosis type 1-like syndrome
has OBO namespace: disease_ontology
id: DOID:0070484
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Legius syndrome
annotated property: IAO_0000115
annotated target: A RASopathy characterized by multiple cafe-au-lait macules and possible skin fold freckling without neurofibromas, optic gliomas, or Lisch nodules that has_material_basis_in heterozygous mutation in the SPRED1 gene on chromosome 15q14.
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/34012067/

Axiom
annotated source: Legius syndrome
annotated property: hasExactSynonym
annotated target: LGSS
has synonym type: OMO_0003012

classic dopamine transporter deficiency syndrome
type: Class
subclass of: DOID 480
IAO_0000115: A dopamine transporter deficiency syndrome characterized by infantile onset of chorea, dystonia, ballismus, and orolingual dyskinesia followed by progressive parkinsonism-dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A3 gene on chromosome 5p15.33. Another distinct feature is an elevated homovanillic acid to hydroxyindoleacetic acid ratio in cerebrospinal fluid.
has db xref: GARD:10484
has db xref: MESH:C567730
has db xref: MIM:613135
has db xref: NCI:C129866
has db xref: ORDO:238455
has db xref: SNOMEDCT_US_2023_03_01:722763000
has db xref: UMLS_CUI:C2751067
has exact synonym: PKDYS1
has exact synonym: classic DTDS
has exact synonym: infantile parkinsonism-dystonia 1
has OBO namespace: disease_ontology
id: DOID:0070489
in subset: DO rare slim
in subset: NCIthesaurus
broad match: MIM:PS613135

Axiom
annotated source: classic dopamine transporter deficiency syndrome
annotated property: IAO_0000115
annotated target: A dopamine transporter deficiency syndrome characterized by infantile onset of chorea, dystonia, ballismus, and orolingual dyskinesia followed by progressive parkinsonism-dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A3 gene on chromosome 5p15.33. Another distinct feature is an elevated homovanillic acid to hydroxyindoleacetic acid ratio in cerebrospinal fluid.
type: ECO_0007645
type: ECO_0007646
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/37443770/
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK442323/

Axiom
annotated source: classic dopamine transporter deficiency syndrome
annotated property: hasExactSynonym
annotated target: PKDYS1
has synonym type: OMO_0003012

mitochondrial complex IV deficiency nuclear type 1
type: Class
subclass of: cytochrome-c oxidase deficiency disease
IAO_0000115: A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.2.
has db xref: MIM:220110
has db xref: NCI:C176895
has db xref: UMLS_CUI:C5435656
has exact synonym: MC4DN1
has OBO namespace: disease_ontology
id: DOID:0070491
in subset: NCIthesaurus

Axiom
annotated source: mitochondrial complex IV deficiency nuclear type 1
annotated property: IAO_0000115
annotated target: A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.2.
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/10746561/

Axiom
annotated source: mitochondrial complex IV deficiency nuclear type 1
annotated property: hasExactSynonym
annotated target: MC4DN1
has synonym type: OMO_0003012

Schinzel Giedion syndrome
type: Class
subclass of: ectodermal dysplasia
IAO_0000115: An ectodermal dysplasia characterized by distinctive facial features, hydronephrosis, severe developmental delay, typical skeletal malformations, genital and cardiac anomalies, and increased tumor prevalence that has_material_basis_in heterozygous mutation in the SETBP1 gene on chromosome 18q12.3.
has db xref: GARD:117
has db xref: MESH:C536632
has db xref: MIM:269150
has db xref: NCI:C129308
has db xref: ORDO:798
has db xref: SNOMEDCT_US_2023_03_01:18899000
has db xref: UMLS_CUI:C0265227
has exact synonym: SGS
has exact synonym: Schinzel-Giedion midface retraction syndrome
has OBO namespace: disease_ontology
id: DOID:0070509
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Schinzel Giedion syndrome
annotated property: IAO_0000115
annotated target: An ectodermal dysplasia characterized by distinctive facial features, hydronephrosis, severe developmental delay, typical skeletal malformations, genital and cardiac anomalies, and increased tumor prevalence that has_material_basis_in heterozygous mutation in the SETBP1 gene on chromosome 18q12.3.
type: ECO_0007640
type: ECO_0007645
has db xref: url:https://medlineplus.gov/genetics/condition/schinzel-giedion-syndrome/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/20436468/

Axiom
annotated source: Schinzel Giedion syndrome
annotated property: hasExactSynonym
annotated target: SGS
has synonym type: OMO_0003012

syndromic X-linked intellectual developmental disorder bain type
type: Class
subclass of: intellectual disability
IAO_0000115: A syndromic X-linked syndromic intellectual disability characterized by delayed psychomotor development, impaired intellectual development with behavioral abnormalities, and musculoskeletal and growth abnormalities that has_material_basis_in heterozygous mutation in the HNRNPH2 gene on chromosome Xq22.1.
has db xref: GARD:13442
has db xref: MIM:300986
has db xref: NCI:C183311
has db xref: UMLS_CUI:C4310814
has exact synonym: HNRNPH2-RNDD
has exact synonym: HNRNPH2-related neurodevelopmental disorder
has exact synonym: MRXSB
has exact synonym: Mental Retardation, X-linked, Syndrome, Bain Type
has OBO namespace: disease_ontology
id: DOID:0070538
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: syndromic X-linked intellectual developmental disorder bain type
annotated property: IAO_0000115
annotated target: A syndromic X-linked syndromic intellectual disability characterized by delayed psychomotor development, impaired intellectual development with behavioral abnormalities, and musculoskeletal and growth abnormalities that has_material_basis_in heterozygous mutation in the HNRNPH2 gene on chromosome Xq22.1.
type: ECO_0007645
type: ECO_0007646
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/27545675/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/37372334/
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK584018/

Axiom
annotated source: syndromic X-linked intellectual developmental disorder bain type
annotated property: hasExactSynonym
annotated target: HNRNPH2-RNDD
has synonym type: OMO_0003012

Axiom
annotated source: syndromic X-linked intellectual developmental disorder bain type
annotated property: hasExactSynonym
annotated target: MRXSB
has synonym type: OMO_0003012

mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
type: Class
subclass of: DOID 655
subclass of: DOID 9252
IAO_0000115: A mitochondrial metabolism disease characterized by a spectrum of phenotypes including delayed psychomotor development, neurodegeneration, increased lactic acid, brain lesions in the basal ganglia, and dystonia that has material basis in homozygous or compound heterozygous mutation in the ECHS1 gene on chromosome 10q26.3.
has db xref: GARD:13019
has db xref: MIM:616277
has db xref: NCI:C174218
has db xref: ORDO:653880
has db xref: UMLS_CUI:C4225391
has exact synonym: ECHS1D
has OBO namespace: disease_ontology
id: DOID:0070540
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
annotated property: IAO_0000115
annotated target: A mitochondrial metabolism disease characterized by a spectrum of phenotypes including delayed psychomotor development, neurodegeneration, increased lactic acid, brain lesions in the basal ganglia, and dystonia that has material basis in homozygous or compound heterozygous mutation in the ECHS1 gene on chromosome 10q26.3.
type: ECO_0007645
type: ECO_0007646
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/25125611/
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK542806/

Axiom
annotated source: mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
annotated property: hasExactSynonym
annotated target: ECHS1D
has synonym type: OMO_0003012

3-hydroxy-3-methylglutaryl-CoA lyase deficiency
type: Class
subclass of: DOID 9252
IAO_0000115: An amino acid metabolic disorder characterized by metabolic acidosis without ketonuria, hypoglycemia, and a characteristic pattern of elevated urinary organic acid metabolites, including 3-hydroxy-3-methylglutaric, 3-methylglutaric, and 3-hydroxyisovaleric acids that has_material_basis_in homozygous or compound heterozygous mutation in the HMGCL gene on chromosome 1p36.11.
has db xref: GARD:8387
has db xref: MESH:C538324
has db xref: MIM:246450
has db xref: NCI:C84523
has db xref: ORDO:20
has db xref: UMLS_CUI:C0268601
has exact synonym: 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency
has exact synonym: HMG-CoA lyase deficiency
has exact synonym: HMGCL deficiency
has exact synonym: HMGCLD
has exact synonym: hydroxymethylglutaric aciduria
has OBO namespace: disease_ontology
has related synonym: HL deficiency
id: DOID:0070541
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
annotated property: IAO_0000115
annotated target: An amino acid metabolic disorder characterized by metabolic acidosis without ketonuria, hypoglycemia, and a characteristic pattern of elevated urinary organic acid metabolites, including 3-hydroxy-3-methylglutaric, 3-methylglutaric, and 3-hydroxyisovaleric acids that has_material_basis_in homozygous or compound heterozygous mutation in the HMGCL gene on chromosome 1p36.11.
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/3128690/

Axiom
annotated source: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
annotated property: hasExactSynonym
annotated target: HMGCLD
has synonym type: OMO_0003012

Fanconi-Bickel syndrome
type: Class
subclass of: glucose metabolism disease
IAO_0000115: A glucose metabolism disease characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose that has_material_basis_in homozygous or compound heterozygous mutations in the SLC2A2 gene on chromosome 3q26.2.
has db xref: GARD:2268
has db xref: MESH:D005198
has db xref: MIM:227810
has db xref: NCI:C168998
has db xref: ORDO:2088
has db xref: UMLS_CUI:C3495427
has exact synonym: FBS
has exact synonym: glycogen storage disease XI
has exact synonym: glycogenosis type XI
has exact synonym: glycogenosis, Fanconi type
has OBO namespace: disease_ontology
id: DOID:0070562
in subset: DO rare slim
in subset: NCIthesaurus
comment: glycogenosis type XI is a historical and now discouraged synonym.
related match: MESH:D005198

Axiom
annotated source: Fanconi-Bickel syndrome
annotated property: IAO_0000115
annotated target: A glucose metabolism disease characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose that has_material_basis_in homozygous or compound heterozygous mutations in the SLC2A2 gene on chromosome 3q26.2.
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/3153325/

Axiom
annotated source: Fanconi-Bickel syndrome
annotated property: hasExactSynonym
annotated target: FBS
has synonym type: OMO_0003012

dialysis disequilibrium syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome that occurs during or after hemodialysis, or rarely continuous renal replacement therapy, characterized by variable, primarily neurological symptoms including headache, nausea, blurred vision, restlessness, confusion, dizziness, muscle cramps, intraocular pressure and, in severe cases, seizures, somnolence, stupor, or coma.
has db xref: NCI:C114781
has db xref: UMLS_CUI:C0403559
has exact synonym: DDS
has exact synonym: dialysis dysequilibrium syndrome
has OBO namespace: disease_ontology
has related synonym: disequilibrium syndrome
has related synonym: dysequilibrium syndrome
id: DOID:0070564
in subset: NCIthesaurus

Axiom
annotated source: dialysis disequilibrium syndrome
annotated property: IAO_0000115
annotated target: A syndrome that occurs during or after hemodialysis, or rarely continuous renal replacement therapy, characterized by variable, primarily neurological symptoms including headache, nausea, blurred vision, restlessness, confusion, dizziness, muscle cramps, intraocular pressure and, in severe cases, seizures, somnolence, stupor, or coma.
type: ECO_0007645
type: ECO_0007646
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/26120445
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK559018/

Axiom
annotated source: dialysis disequilibrium syndrome
annotated property: hasExactSynonym
annotated target: DDS
has synonym type: OMO_0003012

rhabdoid tumor predisposition syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by a markedly increased risk for the development of rhabdoid tumors, rare and highly aggressive malignant tumors occurring in almost any anatomical location predominantly in infants and young children.
has db xref: MIM:PS609322
has db xref: NCI:C93268
has db xref: ORDO:231108
has db xref: UMLS_CUI:C2985524
has exact synonym: RTPS
has exact synonym: familial posterior fossa brain tumor syndrome of infancy
has exact synonym: rhabdoid predisposition syndrome
has OBO namespace: disease_ontology
id: DOID:0070617
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: rhabdoid tumor predisposition syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by a markedly increased risk for the development of rhabdoid tumors, rare and highly aggressive malignant tumors occurring in almost any anatomical location predominantly in infants and young children.
type: ECO_0007640
type: ECO_0007646
has db xref: url:https://medlineplus.gov/genetics/condition/rhabdoid-tumor-predisposition-syndrome/
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK469816/

Axiom
annotated source: rhabdoid tumor predisposition syndrome
annotated property: hasExactSynonym
annotated target: RTPS
has synonym type: OMO_0003012

ring chromosome 20 syndrome
type: Class
subclass of: DOID 630
IAO_0000115: A ring chromosome syndrome characterized by recognizable epileptic phenotype with typical EEG pattern, intellectual disability manifesting after seizure onset in otherwise normally developing children, and behavioral changes that has_material_basis_in chromosome 20 fusion into a ring or ring-like structure.
has db xref: GARD:1334
has db xref: MESH:C580424
has db xref: NCI:C169001
has db xref: ORDO:1444
has db xref: UMLS_CUI:C0265482
has exact synonym: r(20) syndrome
has exact synonym: r20 syndrome
has exact synonym: ring 20 syndrome
has exact synonym: ring chromosome 20 epilepsy syndrome
has OBO namespace: disease_ontology
has related synonym: ring 20
has related synonym: ring chromosome 20
id: DOID:0070622
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: ring chromosome 20 syndrome
annotated property: IAO_0000115
annotated target: A ring chromosome syndrome characterized by recognizable epileptic phenotype with typical EEG pattern, intellectual disability manifesting after seizure onset in otherwise normally developing children, and behavioral changes that has_material_basis_in chromosome 20 fusion into a ring or ring-like structure.
type: ECO_0007640
type: ECO_0007645
has db xref: url:https://medlineplus.gov/genetics/condition/ring-chromosome-20-syndrome/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/33363513/

B-lymphoblastic leukemia with MEF2D rearrangement
type: Class
subclass of: B-lymphoblastic leukemia/lymphoma
IAO_0000115: A B-lymphoblastic leukemia/lymphoma associated with MEF2D gene rearrangement.
has db xref: ICDO:9811/3
has db xref: NCI:C199233
has db xref: UMLS_CUI:C5855479
has exact synonym: B-lymphoblastic leukaemia with MEF2D rearrangement
has OBO namespace: disease_ontology
id: DOID:0070623
in subset: NCIthesaurus
broad match: ICDO:9811/3

Axiom
annotated source: B-lymphoblastic leukemia with MEF2D rearrangement
annotated property: IAO_0000115
annotated target: A B-lymphoblastic leukemia/lymphoma associated with MEF2D gene rearrangement.
type: ECO_0007636
type: ECO_0007645
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C199233
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/38990294/

B-lymphoblastic leukemia with MYC rearrangement
type: Class
subclass of: B-lymphoblastic leukemia/lymphoma
IAO_0000115: A B-lymphoblastic leukemia/lymphoma associated with MYC gene rearrangement.
has db xref: ICDO:9811/3
has db xref: NCI:C199230
has db xref: UMLS_CUI:C5855476
has exact synonym: B Acute Lymphoblastic Leukemia with MEF2D Rearrangement
has exact synonym: B-lymphoblastic leukaemia with MYC rearrangement
has OBO namespace: disease_ontology
id: DOID:0070624
in subset: NCIthesaurus
broad match: ICDO:9811/3

Axiom
annotated source: B-lymphoblastic leukemia with MYC rearrangement
annotated property: IAO_0000115
annotated target: A B-lymphoblastic leukemia/lymphoma associated with MYC gene rearrangement.
type: ECO_0007636
type: ECO_0007645
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C199230
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/37120350/

B-lymphoblastic leukemia with NUTM1 rearrangement
type: Class
subclass of: B-lymphoblastic leukemia/lymphoma
IAO_0000115: A B-lymphoblastic leukemia/lymphoma associated with NUTM1 gene rearrangement.
has db xref: ICDO:9811/3
has db xref: NCI:C199239
has db xref: UMLS_CUI:C5855485
has exact synonym: B-lymphoblastic leukaemia with NUTM1 rearrangement
has OBO namespace: disease_ontology
id: DOID:0070625
in subset: NCIthesaurus
broad match: ICDO:9811/3

Axiom
annotated source: B-lymphoblastic leukemia with NUTM1 rearrangement
annotated property: IAO_0000115
annotated target: A B-lymphoblastic leukemia/lymphoma associated with NUTM1 gene rearrangement.
type: ECO_0007636
type: ECO_0007645
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C199239
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/37120350/

B-lymphoblastic leukemia with PAX5alt
type: Class
subclass of: B-lymphoblastic leukemia/lymphoma
IAO_0000115: A B-lymphoblastic leukemia/lymphoma associated with PAX5 gene alteration, including rearrangements, point mutations, and intragenic lesions.
has db xref: ICDO:9811/3
has db xref: NCI:C199264
has db xref: UMLS_CUI:C5855502
has exact synonym: B-Acute Lymphoblastic Leukemia with PAX5 Alteration
has exact synonym: B-lymphoblastic leukaemia with PAX5alt
has OBO namespace: disease_ontology
id: DOID:0070626
in subset: NCIthesaurus
broad match: ICDO:9811/3

Axiom
annotated source: B-lymphoblastic leukemia with PAX5alt
annotated property: IAO_0000115
annotated target: A B-lymphoblastic leukemia/lymphoma associated with PAX5 gene alteration, including rearrangements, point mutations, and intragenic lesions.
type: ECO_0007636
type: ECO_0007645
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C199264
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/37120350/

B-lymphoblastic leukemia with TCF3-HLF fusion
type: Class
subclass of: B-lymphoblastic leukemia/lymphoma
IAO_0000115: A B-lymphoblastic leukemia/lymphoma associated with TCF3-HLF gene rearrangement.
has db xref: ICDO:9811/3
has db xref: NCI:C200587
has db xref: ORDO:641375
has db xref: UMLS_CUI:C5816789
has db xref: UMLS_CUI:C5856321
has exact synonym: B Lymphoblastic Leukemia/Lymphoma with TCF3-HLF Fusion
has exact synonym: B Lymphoblastic Leukemia/Lymphoma with TCF3-HLF Rearrangement
has exact synonym: B-lymphoblastic leukaemia with TCF3::HLF fusion
has exact synonym: B-lymphoblastic leukemia with TCF3::HLF fusion
has OBO namespace: disease_ontology
id: DOID:0070627
in subset: DO rare slim
in subset: NCIthesaurus
broad match: ICDO:9811/3

Axiom
annotated source: B-lymphoblastic leukemia with TCF3-HLF fusion
annotated property: IAO_0000115
annotated target: A B-lymphoblastic leukemia/lymphoma associated with TCF3-HLF gene rearrangement.
type: ECO_0007636
type: ECO_0007645
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C200587
has db xref: url:https://pmc.ncbi.nlm.nih.gov/articles/PMC3549381/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/31305009/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/37120350/

B-lymphoblastic leukemia with ZNF384 rearrangement
type: Class
subclass of: B-lymphoblastic leukemia/lymphoma
IAO_0000115: A B-lymphoblastic leukemia/lymphoma associated with ZNF384 gene rearrangement.
has db xref: ICDO:9811/3
has db xref: NCI:C199234
has db xref: UMLS_CUI:C5855480
has exact synonym: B-lymphoblastic leukaemia with ZNF384 rearrangement
has OBO namespace: disease_ontology
id: DOID:0070628
in subset: NCIthesaurus
broad match: ICDO:9811/3

Axiom
annotated source: B-lymphoblastic leukemia with ZNF384 rearrangement
annotated property: IAO_0000115
annotated target: A B-lymphoblastic leukemia/lymphoma associated with ZNF384 gene rearrangement.
type: ECO_0007636
type: ECO_0007645
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C199234
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/37120350/

acute myeloid leukemia with CBFA2T3-GLIS2 fusion
type: Class
subclass of: DOID 9119
IAO_0000115: An acute myeloid leukemia associated with CBFA2T3-GLIS2 chimeric oncogene.
has db xref: ICDO:9861/3
has db xref: NCI:C132109
has db xref: UMLS_CUI:C4329266
has exact synonym: Acute Megakaryoblastic Leukemia with CBFA2T3-GLIS2
has exact synonym: Acute myeloid leukaemia with CBFA2T3::GLIS2 fusion
has exact synonym: acute myeloid leukemia with CBFA2T3::GLIS2 fusion
has exact synonym: acute myeloid leukemia with inv(16)(p13q24)
has OBO namespace: disease_ontology
id: DOID:0070629
in subset: NCIthesaurus
broad match: ICDO:9861/3

Axiom
annotated source: acute myeloid leukemia with CBFA2T3-GLIS2 fusion
annotated property: IAO_0000115
annotated target: An acute myeloid leukemia associated with CBFA2T3-GLIS2 chimeric oncogene.
type: ECO_0007636
type: ECO_0007645
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C132109
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/23045605/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/23153540/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/30592296/

acute myeloid leukemia with KAT6A-CREBBP fusion
type: Class
subclass of: DOID 9119
IAO_0000115: An acute myeloid leukemia associated with KAT6A-CREBBP gene fusion.
has db xref: ICDO:9861/3
has db xref: NCI:C200421
has db xref: ORDO:370026
has db xref: UMLS_CUI:C4511003
has exact synonym: Acute myeloid leukaemia with KAT6A::CREBBP fusion
has exact synonym: Acute myeloid leukemia with t(8;16)(p11;p13) translocation
has exact synonym: acute myeloid leukemia with KAT6A::CREBBP fusion
has OBO namespace: disease_ontology
id: DOID:0070630
in subset: DO rare slim
in subset: NCIthesaurus
broad match: ICDO:9861/3

Axiom
annotated source: acute myeloid leukemia with KAT6A-CREBBP fusion
annotated property: IAO_0000115
annotated target: An acute myeloid leukemia associated with KAT6A-CREBBP gene fusion.
type: ECO_0007636
type: ECO_0007645
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C200421
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/23974201/

acute myeloid leukemia with FUS-ERG fusion
type: Class
subclass of: DOID 9119
IAO_0000115: An acute myeloid leukemia associated with FUS-ERG gene fusion.
has db xref: ICDO:9861/3
has db xref: NCI:C200419
has db xref: UMLS_CUI:C5856227
has exact synonym: Acute myeloid leukaemia with FUS::ERG fusion
has exact synonym: acute myeloid leukemia with FUS::ERG fusion
has exact synonym: acute myeloid leukemia with t(16;21)(p11.2;q22)
has OBO namespace: disease_ontology
id: DOID:0070631
in subset: NCIthesaurus
broad match: ICDO:9861/3

Axiom
annotated source: acute myeloid leukemia with FUS-ERG fusion
annotated property: IAO_0000115
annotated target: An acute myeloid leukemia associated with FUS-ERG gene fusion.
type: ECO_0007636
type: ECO_0007645
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C200419
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/24068373/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/30150206/

acute myeloid leukemia with MNX1-ETV6 fusion
type: Class
subclass of: DOID 9119
IAO_0000115: An acute myeloid leukemia associated with MXN1-ETV6 gene fusion.
has db xref: ICDO:9861/3
has db xref: NCI:C122690
has db xref: UMLS_CUI:C4055493
has exact synonym: Acute Myeloid Leukemia with t(7;12)(q36;p13); HLXB9-ETV6
has exact synonym: Acute myeloid leukaemia with MNX1::ETV6 fusion
has exact synonym: acute myeloid leukemia with MNX1::ETV6 fusion
has exact synonym: acute myeloid leukemia with t(7;12)(q36;p13)
has OBO namespace: disease_ontology
id: DOID:0070632
in subset: NCIthesaurus
broad match: ICDO:9861/3

Axiom
annotated source: acute myeloid leukemia with MNX1-ETV6 fusion
annotated property: IAO_0000115
annotated target: An acute myeloid leukemia associated with MXN1-ETV6 gene fusion.
type: ECO_0007636
type: ECO_0007645
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C122690
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/29227476/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/29569294/

acute myeloid leukemia with NPM1-MLF1 fusion
type: Class
subclass of: DOID 9119
IAO_0000115: An acute myeloid leukemia associated with NPM1-MLF1 gene fusion.
has db xref: ICDO:9861/3
has db xref: NCI:C200420
has db xref: UMLS_CUI:C5856228
has exact synonym: Acute myeloid leukaemia with NPM1::MLF1 fusion
has exact synonym: acute myeloid leukemia with NPM1::MLF1 fusion
has exact synonym: acute myeloid leukemia with t(3;5)(q25;q35)
has OBO namespace: disease_ontology
id: DOID:0070633
in subset: NCIthesaurus
broad match: ICDO:9861/3

Axiom
annotated source: acute myeloid leukemia with NPM1-MLF1 fusion
annotated property: IAO_0000115
annotated target: An acute myeloid leukemia associated with NPM1-MLF1 gene fusion.
type: ECO_0007636
type: ECO_0007645
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C200420
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/14506644/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/20471513/

congenital variant of Rett syndrome
type: Class
subclass of: disease of mental health
IAO_0000115: A pervasive developmental disorder characterized by microcephaly, developmental delay, severe cognitive disabilities, early-onset dyskinesia and hyperkinetic movements, stereotypies, epilepsy, and cerebral malformation that has_material_basis_in heterozygous mutation in the FOXG1 gene on chromosome 14q13, encoding forkhead box protein G1.
has broad synonym: FOXG1-related encephalopathy
has db xref: GARD:12825
has db xref: ICD10CM:Q04.8
has db xref: MIM:613454
has db xref: NCI:C176903
has db xref: ORDO:561854
has db xref: SNOMEDCT_US_2025_05_01:702450004
has db xref: UMLS_CUI:C3150705
has exact synonym: FOXG1 syndrome
has exact synonym: Rett syndrome, congenital variant
has OBO namespace: disease_ontology
has related synonym: atypical Rett syndrome
id: DOID:0070657
in subset: DO rare slim
in subset: NCIthesaurus
broad match: ICD10CM:Q04.8

Axiom
annotated source: congenital variant of Rett syndrome
annotated property: IAO_0000115
annotated target: A pervasive developmental disorder characterized by microcephaly, developmental delay, severe cognitive disabilities, early-onset dyskinesia and hyperkinetic movements, stereotypies, epilepsy, and cerebral malformation that has_material_basis_in heterozygous mutation in the FOXG1 gene on chromosome 14q13, encoding forkhead box protein G1.
type: ECO_0007645
type: ECO_0007646
has db xref: url:https://pmc.ncbi.nlm.nih.gov/articles/PMC5522617/
has db xref: url:https://pmc.ncbi.nlm.nih.gov/articles/PMC6747066/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/28661489/
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK604176/

alcohol-associated liver disease
type: Class
subclass of: liver disease
IAO_0000115: A liver disease resulting from excessive alcohol intake.
has db xref: ICD10CM:K70
has db xref: ICD9CM:571.3
has db xref: MESH:D008108
has db xref: NCI:C34783
has db xref: SNOMEDCT_US_2025_05_01:41309000
has db xref: UMLS_CUI:C0023896
has exact synonym: ALD
has exact synonym: alcohol-related liver disease
has exact synonym: alcoholic liver disease
has OBO namespace: disease_ontology
id: DOID:0070658
in subset: NCIthesaurus
narrow match: ICD9CM:571.3

Axiom
annotated source: alcohol-associated liver disease
annotated property: IAO_0000115
annotated target: A liver disease resulting from excessive alcohol intake.
type: ECO_0007645
type: ECO_0007646
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/31314133/
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK546632/
has db xref: url:https://www.nhs.uk/conditions/alcohol-related-liver-disease-arld/

Axiom
annotated source: alcohol-associated liver disease
annotated property: hasExactSynonym
annotated target: ALD
has synonym type: OMO_0003012

subcutaneous panniculitis-like T-cell lymphoma
type: Class
subclass of: primary cutaneous T-cell non-Hodgkin lymphoma
IAO_0000115: A primary cutaneous T-cell non-Hodgkin lymphoma characterized by infiltration of subcutaneous tissue by neoplastic alpha-beta cytotoxic T cells mimicking panniculitis. Homozygous or compound heterozygous mutation in the HAVCR2 gene may contribute to development of this disease, with some evidence of incomplete penetrance.
has db xref: ICD10CM:C86.3
has db xref: ICDO:9708/3
has db xref: MESH:C537503
has db xref: MIM:618398
has db xref: NCI:C6918
has db xref: ORDO:86884
has db xref: SNOMEDCT_US_2025_09_01:404133000
has db xref: UMLS_CUI:C0522624
has exact synonym: SPTCL
has OBO namespace: disease_ontology
id: DOID:0070662
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: subcutaneous panniculitis-like T-cell lymphoma
annotated property: IAO_0000115
annotated target: A primary cutaneous T-cell non-Hodgkin lymphoma characterized by infiltration of subcutaneous tissue by neoplastic alpha-beta cytotoxic T cells mimicking panniculitis. Homozygous or compound heterozygous mutation in the HAVCR2 gene may contribute to development of this disease, with some evidence of incomplete penetrance.
type: ECO_0007645
type: ECO_0007646
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/19195975/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/30374066/
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK538517/

Axiom
annotated source: subcutaneous panniculitis-like T-cell lymphoma
annotated property: hasExactSynonym
annotated target: SPTCL
has synonym type: OMO_0003012

soft tissue sarcoma
type: Class
subclass of: cancer
IAO_0000115: A connective tissue cancer that has_material_basis_in abnormally proliferating cells derived from embryonic mesoderm and starts in the soft tissues of the body (e.g. fat, muscle, nerves, blood vessels).
has db xref: NCI:C9306
has db xref: SNOMEDCT_US_2025_09_01:424952003
has db xref: UMLS_CUI:C4551687
has OBO namespace: disease_ontology
id: DOID:0070663
in subset: NCIthesaurus

Axiom
annotated source: soft tissue sarcoma
annotated property: IAO_0000115
annotated target: A connective tissue cancer that has_material_basis_in abnormally proliferating cells derived from embryonic mesoderm and starts in the soft tissues of the body (e.g. fat, muscle, nerves, blood vessels).
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Soft-tissue_sarcoma
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/31236647/
has db xref: url:https://www.cancer.org/cancer/types/soft-tissue-sarcoma/about/soft-tissue-sarcoma.html

oropharyngeal squamous cell carcinoma
type: Class
subclass of: DOID 8557
IAO_0000115: An oropharynx cancer that derives_from squamous epithelial cells.
has db xref: NCI:C8181
has db xref: ORDO:500478
has db xref: SNOMEDCT_US_2025_09_01:423464009
has db xref: UMLS_CUI:C0280313
has exact synonym: OPSCC
has exact synonym: epidermoid carcinoma of the oropharynx
has OBO namespace: disease_ontology
id: DOID:0070664
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: oropharyngeal squamous cell carcinoma
annotated property: IAO_0000115
annotated target: An oropharynx cancer that derives_from squamous epithelial cells.
type: ECO_0007645
type: ECO_0007646
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/26215712/
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK563268/

Axiom
annotated source: oropharyngeal squamous cell carcinoma
annotated property: hasExactSynonym
annotated target: OPSCC
has synonym type: OMO_0003012

lipofibromatosis
type: Class
subclass of: connective tissue benign neoplasm
IAO_0000115: A connective tissue benign neoplasm that is characterized by mature adipose tissue and bundles of cuboidal to spindled fibroblast-like cells. It occurs mainly in children, more often in males, preferentially involves the hands and feet, and may recur locally.
has db xref: ICDO:8851/1
has db xref: NCI:C99180
has db xref: SNOMEDCT_US_2025_09_01:1290942005
has db xref: UMLS_CUI:C3274592
has OBO namespace: disease_ontology
id: DOID:0070665
in subset: NCIthesaurus

Axiom
annotated source: lipofibromatosis
annotated property: IAO_0000115
annotated target: A connective tissue benign neoplasm that is characterized by mature adipose tissue and bundles of cuboidal to spindled fibroblast-like cells. It occurs mainly in children, more often in males, preferentially involves the hands and feet, and may recur locally.
type: ECO_0007638
type: ECO_0007645
has db xref: url:https://en.wikipedia.org/wiki/Lipofibromatosis
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/11075850/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/30310176/

infantile myofibromatosis 1
type: Class
subclass of: infantile myofibromatosis
IAO_0000115: An infantile myofibromatosis that has_material_basis_in heterozygous mutation in the PDGFRB gene on chromosome 5q32.
has db xref: MIM:228550
has db xref: NCI:C176943
has db xref: UMLS_CUI:C4551572
has OBO namespace: disease_ontology
id: DOID:0070666
in subset: NCIthesaurus

Axiom
annotated source: infantile myofibromatosis 1
annotated property: IAO_0000115
annotated target: An infantile myofibromatosis that has_material_basis_in heterozygous mutation in the PDGFRB gene on chromosome 5q32.
type: ECO_0007645
has db xref: url:https://pmc.ncbi.nlm.nih.gov/articles/PMC3675240/
has db xref: url:https://pmc.ncbi.nlm.nih.gov/articles/PMC3675260/

infantile myofibromatosis 2
type: Class
subclass of: infantile myofibromatosis
IAO_0000115: An infantile myofibromatosis that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.
has db xref: MIM:615293
has db xref: NCI:C176944
has db xref: UMLS_CUI:C3809084
has OBO namespace: disease_ontology
id: DOID:0070667
in subset: NCIthesaurus

Axiom
annotated source: infantile myofibromatosis 2
annotated property: IAO_0000115
annotated target: An infantile myofibromatosis that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.
type: ECO_0007645
has db xref: url:https://pmc.ncbi.nlm.nih.gov/articles/PMC3675260/

spina bifida
type: Class
subclass of: disease
IAO_0000115: A neural tube defect that is characterized by incomplete closing of the spine and membranes around the spinal cord during early development.
has db xref: GARD:7673
has db xref: ICD10CM:Q05
has db xref: ICD9CM:741
has db xref: MESH:D016135
has db xref: NCI:C101214
has db xref: SNOMEDCT_US_2023_03_01:156888006
has db xref: UMLS_CUI:C0080178
has OBO namespace: disease_ontology
id: DOID:0080016
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: spina bifida
annotated property: IAO_0000115
annotated target: A neural tube defect that is characterized by incomplete closing of the spine and membranes around the spinal cord during early development.
has db xref: url:https://en.wikipedia.org/wiki/Spina_bifida
has db xref: url:https://ghr.nlm.nih.gov/condition/spina-bifida

hypochondroplasia
type: Class
subclass of: osteochondrodysplasia
IAO_0000115: An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism.
has db xref: GARD:6724
has db xref: ICD10CM:Q77.4
has db xref: MESH:C562937
has db xref: MIM:146000
has db xref: NCI:C118697
has db xref: ORDO:429
has db xref: SNOMEDCT_US_2023_03_01:205468002
has db xref: UMLS_CUI:C0410529
has OBO namespace: disease_ontology
id: DOID:0080041
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: hypochondroplasia
annotated property: IAO_0000115
annotated target: An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007646
has db xref: url:http://en.wikipedia.org/wiki/Hypochondroplasia
has db xref: url:http://ghr.nlm.nih.gov/condition/hypochondroplasia
has db xref: url:http://www.ncbi.nlm.nih.gov/books/NBK1477/

intestinal pseudo-obstruction
type: Class
subclass of: DOID 5295
IAO_0000115: A colonic disease that is characterized by bowel obstruction resulting from impairment of the muscle contractions that move food through the digestive tract.
creation date: 2015-10-19T14:28:30Z
has alternative id: DOID:3878
has db xref: GARD:12744
has db xref: GARD:6789
has db xref: MESH:D007418
has db xref: NCI:C34733
has db xref: ORDO:2978
has db xref: SNOMEDCT_US_2023_03_01:235825006
has db xref: UMLS_CUI:C0021847
has exact synonym: Chronic intestinal pseudo-obstruction
has exact synonym: neuronal intestinal dysplasia
has OBO namespace: disease_ontology
id: DOID:0080072
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: intestinal pseudo-obstruction
annotated property: IAO_0000115
annotated target: A colonic disease that is characterized by bowel obstruction resulting from impairment of the muscle contractions that move food through the digestive tract.
has db xref: url:https://ghr.nlm.nih.gov/condition/intestinal-pseudo-obstruction
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/31848803/

infantile myofibromatosis
type: Class
subclass of: connective tissue benign neoplasm
IAO_0000115: A connective tissue benign neoplasm that is characterized by the development of benign tumors in the skin, striated muscles, bones, and in exceptional cases, visceral organs.
has db xref: GARD:2998
has db xref: MESH:C562978
has db xref: MIM:PS228550
has db xref: ORDO:2591
has db xref: SNOMEDCT_US_2025_09_01:254146000
has db xref: UMLS_CUI:C0432284
has exact synonym: congenital generalized fibromatosis
has OBO namespace: disease_ontology
id: DOID:0080109
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: infantile myofibromatosis
annotated property: IAO_0000115
annotated target: A connective tissue benign neoplasm that is characterized by the development of benign tumors in the skin, striated muscles, bones, and in exceptional cases, visceral organs.
type: ECO_0007638
type: ECO_0007645
has db xref: url:https://en.wikipedia.org/wiki/Infantile_myofibromatosis
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/23731542

mitochondrial DNA depletion syndrome 1
type: Class
subclass of: DOID 655
IAO_0000115: A mitochondrial DNA depletion syndrome that is characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction, and has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded thymidine phosphorylase gene (TYMP) on chromosome 22q13.
has db xref: GARD:9920
has db xref: MESH:C536350
has db xref: MIM:603041
has db xref: NCI:C119678
has db xref: ORDO:298
has exact synonym: mitochondrial DNA depletion syndrome 1 (MNGIE type)
has exact synonym: mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related
has OBO namespace: disease_ontology
id: DOID:0080119
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: mitochondrial DNA depletion syndrome 1
annotated property: IAO_0000115
annotated target: A mitochondrial DNA depletion syndrome that is characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction, and has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded thymidine phosphorylase gene (TYMP) on chromosome 22q13.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007638
type: ECO_0007645
has db xref: url:https://en.wikipedia.org/wiki/Mitochondrial_neurogastrointestinal_encephalopathy_syndrome
has db xref: url:https://ghr.nlm.nih.gov/condition/mitochondrial-neurogastrointestinal-encephalopathy-disease
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/19056268
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/20301358
has db xref: url:https://www.omim.org/entry/603041

Alpers-Huttenlocher syndrome
type: Class
subclass of: DOID 655
IAO_0000115: A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma (POLG) on chromosome 15q26.
has alternative id: DOID:1442
has db xref: GARD:5783
has db xref: ICD10CM:G31.81
has db xref: MESH:D002549
has db xref: MIM:203700
has db xref: NCI:C35257
has db xref: ORDO:726
has db xref: SNOMEDCT_US_2023_03_01:20415001
has db xref: UMLS_CUI:C0205710
has exact synonym: Alper's syndrome
has exact synonym: Alpers disease
has exact synonym: Alpers progressive infantile poliodystrophy
has exact synonym: Alpers syndrome
has exact synonym: Alpers' disease or gray-matter degeneration
has exact synonym: Diffuse Cerebral Sclerosis of Schilder
has exact synonym: Polg disease
has exact synonym: mitochondrial DNA depletion syndrome 4a
has exact synonym: progressive sclerosing poliodystrophy
has OBO namespace: disease_ontology
id: DOID:0080122
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Alpers-Huttenlocher syndrome
annotated property: IAO_0000115
annotated target: A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma (POLG) on chromosome 15q26.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007645
has db xref: url:https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome
has db xref: url:https://ghr.nlm.nih.gov/condition/alpers-huttenlocher-syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/30103161
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/30451971

mitochondrial DNA depletion syndrome 12a
type: Class
subclass of: DOID 655
IAO_0000115: A mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 25 member 4 gene on chromosome 4q35.
has db xref: MIM:617184
has db xref: NCI:C129977
has OBO namespace: disease_ontology
id: DOID:0080130
in subset: NCIthesaurus

Axiom
annotated source: mitochondrial DNA depletion syndrome 12a
annotated property: IAO_0000115
annotated target: A mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 25 member 4 gene on chromosome 4q35.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/27693233

childhood acute lymphocytic leukemia
type: Class
subclass of: DOID 9952
IAO_0000115: An acute lymphocytic leukemia occurring during childhood.
has db xref: NCI:C3168
has exact synonym: Childhood Acute Lymphoblastic Leukemia
has OBO namespace: disease_ontology
id: DOID:0080144
in subset: DO cancer slim
in subset: DO childhood cancer slim
in subset: NCIthesaurus

Axiom
annotated source: childhood acute lymphocytic leukemia
annotated property: IAO_0000115
annotated target: An acute lymphocytic leukemia occurring during childhood.
type: ECO_0007636

childhood T-cell acute lymphoblastic leukemia
type: Class
subclass of: childhood acute lymphocytic leukemia
IAO_0000115: A childhood acute lymphoblastic leukemia that has_material_basis_in T-cells.
has alternative id: DOID:7933
has db xref: NCI:C5640
has db xref: UMLS_CUI:C1332997
has exact synonym: T-cell childhood acute lymphocytic leukemia
has exact synonym: childhood precursor T-lymphoblastic lymphoma/leukemia
has OBO namespace: disease_ontology
id: DOID:0080145
in subset: DO cancer slim
in subset: DO childhood cancer slim
in subset: NCIthesaurus

Axiom
annotated source: childhood T-cell acute lymphoblastic leukemia
annotated property: IAO_0000115
annotated target: A childhood acute lymphoblastic leukemia that has_material_basis_in T-cells.
type: ECO_0007636
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.07d&ns=NCI_Thesaurus&code=C7953

childhood B-cell acute lymphoblastic leukemia
type: Class
subclass of: childhood acute lymphocytic leukemia
IAO_0000115: A childhood acute lymphoblastic leukemia that has_material_basis_in B-cells.
has db xref: NCI:C9140
has OBO namespace: disease_ontology
id: DOID:0080146
in subset: DO cancer slim
in subset: DO childhood cancer slim
in subset: NCIthesaurus

Axiom
annotated source: childhood B-cell acute lymphoblastic leukemia
annotated property: IAO_0000115
annotated target: A childhood acute lymphoblastic leukemia that has_material_basis_in B-cells.
type: ECO_0007636
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.07d&ns=NCI_Thesaurus&code=C9140

T-cell childhood lymphoblastic lymphoma
type: Class
subclass of: lymphoma
IAO_0000115: A lymphoblastic lymphoma that has_material_basis_in T-cells and that occurs during childhood.
has db xref: NCI:C7210
has exact synonym: Childhood T lymphoblastic lymphoma
has OBO namespace: disease_ontology
id: DOID:0080148
in subset: DO cancer slim
in subset: DO childhood cancer slim
in subset: NCIthesaurus

Axiom
annotated source: T-cell childhood lymphoblastic lymphoma
annotated property: IAO_0000115
annotated target: A lymphoblastic lymphoma that has_material_basis_in T-cells and that occurs during childhood.
type: ECO_0007636
has db xref: url:https://www.dana-farber.org/cancer-care/types/childhood-lymphoblastic-lymphoma

adult acute monocytic leukemia
type: Class
subclass of: DOID 8692
IAO_0000115: An acute monocytic leukemia occurring in adults.
has db xref: NCI:C8263
has OBO namespace: disease_ontology
id: DOID:0080149
in subset: NCIthesaurus

Axiom
annotated source: adult acute monocytic leukemia
annotated property: IAO_0000115
annotated target: An acute monocytic leukemia occurring in adults.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Acute_monocytic_leukemia

autosomal recessive autoinflammation, panniculitis, and dermatosis syndrome
type: Class
subclass of: DOID 612
IAO_0000115: An autoinflammation, panniculitis, and dermatosis syndrome characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy and has_material_basis_in homozygous or compound heterozygous loss-of-function mutation in the OTULIN gene on chromosome 5p15.
has db xref: GARD:13198
has db xref: MIM:617099
has db xref: NCI:C174441
has db xref: ORDO:500062
has db xref: SNOMEDCT_US_2025_05_01:765435009
has db xref: UMLS_CUI:C4310614
has exact synonym: ORAS
has exact synonym: OTULIN-related autoinflammatory syndrome
has exact synonym: otulipenia
has OBO namespace: disease_ontology
has related synonym: autoinflammation, panniculitis and dermatosis syndrome
id: DOID:0080163
in subset: DO rare slim
in subset: NCIthesaurus
comment: In 2024, patients with an autosomal dominant ORAS-like disease were identified. The terms OTULIN-related autoinflammatory syndrome (ORAS) and otulipenia have thus far referred only to this autosomal recessive form, but may become more generally used to mean both inherited forms [JAB, 2025-07-31].

Axiom
annotated source: autosomal recessive autoinflammation, panniculitis, and dermatosis syndrome
annotated property: IAO_0000115
annotated target: An autoinflammation, panniculitis, and dermatosis syndrome characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy and has_material_basis_in homozygous or compound heterozygous loss-of-function mutation in the OTULIN gene on chromosome 5p15.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/27523608
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/27559085
has db xref: url:https://www.nih.gov/news-events/news-releases/nih-researchers-discover-otulipenia-new-inflammatory-disease

Axiom
annotated source: autosomal recessive autoinflammation, panniculitis, and dermatosis syndrome
annotated property: hasExactSynonym
annotated target: ORAS
has synonym type: OMO_0003012

Axiom
annotated source: autosomal recessive autoinflammation, panniculitis, and dermatosis syndrome
annotated property: hasRelatedSynonym
annotated target: autoinflammation, panniculitis and dermatosis syndrome
comment: Initially, this term was used only for the autosomal recessive disease but, in 2024, a new autosomal dominant form was identified and its use broadened to encompass both [JAB, 2025-07-31].

myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1
type: Class
subclass of: hematologic cancer
IAO_0000115: A myeloid neoplasm that is characterized by the formation of abnormal fusion genes that encode constitutively activated tyrosine kinases.
has db xref: NCI:C84270
has db xref: UMLS_CUI:C2827356
has exact synonym: Myeloid and Lymphoid Neoplasms with Eosinophilia and Rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2
has exact synonym: Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of platelet-derived growth factor receptor alpha (PDGFRA), platelet-derived growth factor receptor beta (PDGFRB), and fibroblast growth factor receptor-1 (FGFR1) are a group of hematologic neoplasms
has OBO namespace: disease_ontology
id: DOID:0080164
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1
annotated property: IAO_0000115
annotated target: A myeloid neoplasm that is characterized by the formation of abnormal fusion genes that encode constitutively activated tyrosine kinases.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/19357394
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/23489324

myeloid and lymphoid neoplasms associated with PDGFRA rearrangement
type: Class
subclass of: myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1
IAO_0000115: A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRA gene, most often resulting in the formation of FIP1L1-PDGFRA fusion transcripts.
has db xref: NCI:C84275
has exact synonym: Myeloid and Lymphoid Neoplasms with PDGFRA Rearrangement
has OBO namespace: disease_ontology
id: DOID:0080165
in subset: NCIthesaurus

Axiom
annotated source: myeloid and lymphoid neoplasms associated with PDGFRA rearrangement
annotated property: IAO_0000115
annotated target: A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRA gene, most often resulting in the formation of FIP1L1-PDGFRA fusion transcripts.
type: ECO_0007636

myeloid and lymphoid neoplasms associated with PDGFRB rearrangement
type: Class
subclass of: myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1
IAO_0000115: A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRB gene, most often resulting in the formation of ETV6-PDGFRB fusion transcripts.
has db xref: NCI:C84276
has exact synonym: Myeloid and Lymphoid Neoplasms with PDGFRB Rearrangement
has OBO namespace: disease_ontology
id: DOID:0080166
in subset: NCIthesaurus

Axiom
annotated source: myeloid and lymphoid neoplasms associated with PDGFRB rearrangement
annotated property: IAO_0000115
annotated target: A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRB gene, most often resulting in the formation of ETV6-PDGFRB fusion transcripts.
type: ECO_0007636

myeloid and lymphoid neoplasms associated with FGFR1 abnormalities
type: Class
subclass of: myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1
IAO_0000115: A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint.
has db xref: NCI:C84277
has OBO namespace: disease_ontology
id: DOID:0080167
in subset: NCIthesaurus

Axiom
annotated source: myeloid and lymphoid neoplasms associated with FGFR1 abnormalities
annotated property: IAO_0000115
annotated target: A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint.
type: ECO_0007636

chronic neutrophilic leukemia
type: Class
subclass of: chronic leukemia
IAO_0000115: A chronic leukemia characterized by neutrophilic leukocytosis with no detectable Philadelphia chromosome or BCR/ABL fusion gene.
has db xref: ICDO:9963/3
has db xref: NCI:C3179
has OBO namespace: disease_ontology
id: DOID:0080187
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: chronic neutrophilic leukemia
annotated property: IAO_0000115
annotated target: A chronic leukemia characterized by neutrophilic leukocytosis with no detectable Philadelphia chromosome or BCR/ABL fusion gene.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Chronic_neutrophilic_leukemia

chronic myelomonocytic leukemia
type: Class
subclass of: chronic leukemia
IAO_0000115: A chronic leukemia characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood.
has db xref: GARD:8225
has db xref: ICDO:9945/3
has db xref: NCI:C3178
has OBO namespace: disease_ontology
id: DOID:0080188
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: chronic myelomonocytic leukemia
annotated property: IAO_0000115
annotated target: A chronic leukemia characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood.
type: ECO_0007638
type: ECO_0007645
has db xref: url:https://en.wikipedia.org/wiki/Chronic_myelomonocytic_leukemia
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/30367269
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/31093889

malignant epithelioid hemangioendothelioma
type: Class
subclass of: cancer
IAO_0000115: A malignant hemangioma characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma.
has db xref: NCI:C3800
has OBO namespace: disease_ontology
id: DOID:0080190
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: malignant epithelioid hemangioendothelioma
annotated property: IAO_0000115
annotated target: A malignant hemangioma characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma.
type: ECO_0007636
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C3800

colorectal carcinoma
type: Class
subclass of: DOID 9256
IAO_0000115: A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa.
has db xref: EFO:1001951
has db xref: MESH:D015179
has db xref: NCI:C2955
has db xref: UMLS_CUI:C0009402
has OBO namespace: disease_ontology
id: DOID:0080199
in subset: NCIthesaurus

Axiom
annotated source: colorectal carcinoma
annotated property: IAO_0000115
annotated target: A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa.
type: ECO_0007636
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C4978

adenoid cystic carcinoma
type: Class
subclass of: DOID 8858
IAO_0000115: An adenocarcinoma that is characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells.
has db xref: GARD:5743
has db xref: ICDO:8200/3
has db xref: MESH:D003528
has db xref: NCI:C2970
has OBO namespace: disease_ontology
id: DOID:0080202
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: adenoid cystic carcinoma
annotated property: IAO_0000115
annotated target: An adenocarcinoma that is characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells.
type: ECO_0007636
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://codes.iarc.fr/code/2592
has db xref: url:https://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma
has db xref: url:https://meshb.nlm.nih.gov/record/ui?ui=D003528

nodal marginal zone lymphoma
type: Class
subclass of: DOID 707
IAO_0000115: A marginal zone B-cell lymphoma which morphologically resembles lymph nodes involved by marginal zone lymphomas of extranodal or splenic types, but without evidence of extranodal or splenic disease.
has db xref: NCI:C8863
has OBO namespace: disease_ontology
id: DOID:0080211
in subset: NCIthesaurus

Axiom
annotated source: nodal marginal zone lymphoma
annotated property: IAO_0000115
annotated target: A marginal zone B-cell lymphoma which morphologically resembles lymph nodes involved by marginal zone lymphomas of extranodal or splenic types, but without evidence of extranodal or splenic disease.
type: ECO_0007636
type: ECO_0007645
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C8863
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/26989202

epidermolytic palmoplantar keratoderma
type: Class
subclass of: keratosis
IAO_0000115: A palmoplantar keratosis that is characterized by marked hyperkeratosis on the surface of palms and soles.
has db xref: GARD:2826
has db xref: MESH:D053546
has db xref: MIM:PS144200
has db xref: NCI:C84693
has db xref: ORDO:2199
has db xref: UMLS_CUI:C1721006
has exact synonym: EPPK
has OBO namespace: disease_ontology
id: DOID:0080223
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: epidermolytic palmoplantar keratoderma
annotated property: IAO_0000115
annotated target: A palmoplantar keratosis that is characterized by marked hyperkeratosis on the surface of palms and soles.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/7544663

Axiom
annotated source: epidermolytic palmoplantar keratoderma
annotated property: hasExactSynonym
annotated target: EPPK
has synonym type: OMO_0003012

familial hypertrophic cardiomyopathy
type: Class
subclass of: hypertrophic cardiomyopathy
IAO_0000115: A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations.
has db xref: MESH:D024741
has db xref: MIM:PS192600
has db xref: NCI:C84773
has db xref: ORDO:217569
has db xref: SNOMEDCT_US_2023_03_01:83978005
has db xref: UMLS_CUI:C0949658
has OBO namespace: disease_ontology
id: DOID:0080326
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: familial hypertrophic cardiomyopathy
annotated property: IAO_0000115
annotated target: A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations.
type: ECO_0007637
has db xref: url:https://ghr.nlm.nih.gov/condition/familial-hypertrophic-cardiomyopathy#genes

mitochondrial DNA depletion syndrome 12b
type: Class
subclass of: DOID 655
IAO_0000115: A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35.
has db xref: MIM:615418
has db xref: NCI:C129977
has db xref: ORDO:1369
has OBO namespace: disease_ontology
id: DOID:0080335
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: mitochondrial DNA depletion syndrome 12b
annotated property: IAO_0000115
annotated target: A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35.
type: ECO_0007637
type: ECO_0007645
has db xref: url:https://ghr.nlm.nih.gov/gene/SLC25A4#conditions
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/22187496
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/27693233

chronic eosinophilic leukemia
type: Class
subclass of: chronic leukemia
IAO_0000115: A chronic leukemia characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues.
has db xref: ICDO:9964/3
has db xref: NCI:C4563
has OBO namespace: disease_ontology
id: DOID:0080367
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: chronic eosinophilic leukemia
annotated property: IAO_0000115
annotated target: A chronic leukemia characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues.
type: ECO_0007637
type: ECO_0007641
has db xref: url:https://ghr.nlm.nih.gov/condition/pdgfra-associated-chronic-eosinophilic-leukemia
has db xref: url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/chronic-eosinophilic-leukemia

ovarian sex-cord stromal tumor
type: Class
subclass of: sex cord-gonadal stromal tumor
IAO_0000115: A sex cord-gonadal stromal tumor that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts.
has db xref: NCI:C4862
has OBO namespace: disease_ontology
id: DOID:0080369
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: ovarian sex-cord stromal tumor
annotated property: IAO_0000115
annotated target: A sex cord-gonadal stromal tumor that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts.
type: ECO_0007636
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4862&ns=ncit

ovarian sex cord-stromal benign neoplasm
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A sex cord-stromal benign neoplasm that arises from the ovary.
has db xref: NCI:C6803
has OBO namespace: disease_ontology
id: DOID:0080370
in subset: NCIthesaurus

Axiom
annotated source: ovarian sex cord-stromal benign neoplasm
annotated property: IAO_0000115
annotated target: A sex cord-stromal benign neoplasm that arises from the ovary.
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4498422/

nephrotic syndrome type 1
type: Class
subclass of: familial nephrotic syndrome
IAO_0000115: A familial nephrotic syndrome characterized by prenatal onset of massive proteinuria followed by steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS1 gene on chromosome 19q13.
has db xref: GARD:1500
has db xref: MEDDRA:10060740
has db xref: MIM:256300
has db xref: NCI:C122795
has db xref: ORDO:839
has db xref: SNOMEDCT_US_2023_03_01:197601003
has db xref: UMLS_CUI:C0403399
has exact synonym: Finnish congenital nephrosis
has OBO namespace: disease_ontology
id: DOID:0080390
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: nephrotic syndrome type 1
annotated property: IAO_0000115
annotated target: A familial nephrotic syndrome characterized by prenatal onset of massive proteinuria followed by steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS1 gene on chromosome 19q13.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/10577936
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/9660941

lung non-squamous non-small cell carcinoma
type: Class
subclass of: lung non-small cell carcinoma
IAO_0000115: A lung non-small cell carcinoma that is characterized by the lack of evidence of squamous differentiation.
has db xref: NCI:C135017
has exact synonym: non- squamous NSCLC
has OBO namespace: disease_ontology
id: DOID:0080521
in subset: NCIthesaurus

Axiom
annotated source: lung non-squamous non-small cell carcinoma
annotated property: IAO_0000115
annotated target: A lung non-small cell carcinoma that is characterized by the lack of evidence of squamous differentiation.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/30362335

anaplastic thyroid carcinoma
type: Class
subclass of: thyroid gland carcinoma
IAO_0000115: A thyroid gland carcinoma that is composed of undifferentiated cells.
has db xref: NCI:C3878
has exact synonym: thyroid gland anaplastic carcinoma
has OBO namespace: disease_ontology
id: DOID:0080522
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: anaplastic thyroid carcinoma
annotated property: IAO_0000115
annotated target: A thyroid gland carcinoma that is composed of undifferentiated cells.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/28707679

thyroid gland adenocarcinoma
type: Class
subclass of: thyroid gland carcinoma
IAO_0000115: A thyroid gland carcinoma that derives_from epithelial cells of glandular origin.
has db xref: NCI:C27380
has OBO namespace: disease_ontology
id: DOID:0080524
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: thyroid gland adenocarcinoma
annotated property: IAO_0000115
annotated target: A thyroid gland carcinoma that derives_from epithelial cells of glandular origin.
type: ECO_0007636
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27380

differentiated high-grade thyroid carcinoma
type: Class
subclass of: thyroid gland adenocarcinoma
IAO_0000115: A thyroid gland adenocarcinoma characterized by extensive evidence of follicular cell differentiation.
has db xref: NCI:C7153
has exact synonym: differentiated thyroid gland carcinoma
has OBO namespace: disease_ontology
id: DOID:0080525
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: differentiated high-grade thyroid carcinoma
annotated property: IAO_0000115
annotated target: A thyroid gland adenocarcinoma characterized by extensive evidence of follicular cell differentiation.
type: ECO_0007636
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7153&ns=ncit

dedifferentiated liposarcoma
type: Class
subclass of: liposarcoma
IAO_0000115: A liposarcoma that is characterized as a high-grade tumor that occurs when a lower-grade tumor changes and creates new high-grade cells.
has db xref: ICDO:8858/3
has db xref: NCI:C3704
has db xref: ORDO:99970
has OBO namespace: disease_ontology
id: DOID:0080531
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: dedifferentiated liposarcoma
annotated property: IAO_0000115
annotated target: A liposarcoma that is characterized as a high-grade tumor that occurs when a lower-grade tumor changes and creates new high-grade cells.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6211889/
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/26645460

myxofibrosarcoma
type: Class
subclass of: cancer
IAO_0000115: A sarcoma that arises from the soft tissue and is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma.
has db xref: ICDO:8811/3
has db xref: NCI:C6496
has db xref: ORDO:79105
has exact synonym: fibromyxoid sarcoma
has OBO namespace: disease_ontology
id: DOID:0080534
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: myxofibrosarcoma
annotated property: IAO_0000115
annotated target: A sarcoma that arises from the soft tissue and is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma.
type: ECO_0007637
type: ECO_0007645
has db xref: url:https://www.mayoclinic.org/diseases-conditions/myxofibrosarcoma/cdc-20387740
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/27591498

hyper IgM syndrome
type: Class
subclass of: hyperimmunoglobulin syndrome
IAO_0000115: A hyperimmunoglobin syndrome that is characterized by an immune system that fails to produce normal levels of the antibodies IgA, IgG and IgE but can produce normal or elevated levels of IgM.
has db xref: ICD10CM:D80.5
has db xref: MESH:D053306
has db xref: MIM:PS308230
has db xref: NCI:C3990
has db xref: UMLS_CUI:C0272236
has exact synonym: HIGM
has exact synonym: hyperimmunoglobulin M syndrome
has exact synonym: immunodeficiency with hyper-IgM
has OBO namespace: disease_ontology
id: DOID:0080544
in subset: NCIthesaurus

Axiom
annotated source: hyper IgM syndrome
annotated property: IAO_0000115
annotated target: A hyperimmunoglobin syndrome that is characterized by an immune system that fails to produce normal levels of the antibodies IgA, IgG and IgE but can produce normal or elevated levels of IgM.
type: ECO_0007636
type: ECO_0007637
has db xref: url:https://rarediseases.org/rare-diseases/hyper-igm-syndrome/
has db xref: url:https://www.niaid.nih.gov/diseases-conditions/types-pidds

Axiom
annotated source: hyper IgM syndrome
annotated property: hasExactSynonym
annotated target: HIGM
has synonym type: OMO_0003012

COVID-19
type: Class
subclass of: DOID 934
IAO_0000115: A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum.
has db xref: ICD10CM:U07.1
has db xref: MESH:D000086382
has db xref: NCI:C171133
has db xref: SNOMEDCT_US_2023_03_01:840539006
has db xref: UMLS_CUI:C5203670
has exact synonym: 2019 Novel Coronavirus (2019-nCoV)
has exact synonym: 2019-nCoV infection
has exact synonym: COVID19
has exact synonym: SARS-CoV-2 infection
has OBO namespace: disease_ontology
id: DOID:0080600
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: COVID-19
annotated property: IAO_0000115
annotated target: A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/32007143/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/32007145/
has db xref: url:https://www.cdc.gov/covid/about/
has db xref: url:https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=2697049
has db xref: url:https://www.who.int/emergencies/diseases/novel-coronavirus-2019

Axiom
annotated source: COVID-19
annotated property: hasExactSynonym
annotated target: COVID19
has synonym type: OMO_0003012

benign teratoma
type: Class
subclass of: disease
IAO_0000115: A germ cell benign neoplasm that derives_from mature tissue elements or a limited amount of immature tissue elements.
has db xref: ICDO:9080/1
has db xref: NCI:C67107
has OBO namespace: disease_ontology
id: DOID:0080602
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: benign teratoma
annotated property: IAO_0000115
annotated target: A germ cell benign neoplasm that derives_from mature tissue elements or a limited amount of immature tissue elements.
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C67107&ns=ncit

lymph node benign neoplasm
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: An immune system organ benign neoplasm that is located_in the lymph nodes.
has db xref: NCI:C3636
has db xref: SNOMEDCT_US_2021_09_01:92197001
has OBO namespace: disease_ontology
id: DOID:0080617
in subset: NCIthesaurus

Axiom
annotated source: lymph node benign neoplasm
annotated property: IAO_0000115
annotated target: An immune system organ benign neoplasm that is located_in the lymph nodes.

auditory system benign neoplasm
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A sensory system benign neoplasm that is located in the auditory system.
has db xref: NCI:C8417
has OBO namespace: disease_ontology
id: DOID:0080619
in subset: NCIthesaurus

Axiom
annotated source: auditory system benign neoplasm
annotated property: IAO_0000115
annotated target: A sensory system benign neoplasm that is located in the auditory system.

B-lymphoblastic leukemia/lymphoma
type: Class
subclass of: B-cell acute lymphoblastic leukemia
IAO_0000115: A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow.
has alternative id: DOID:7061
has db xref: ICDO:9836/3
has db xref: NCI:C8936
has db xref: SNOMEDCT_US_2023_03_01:1162660006
has db xref: UMLS_CUI:C0862030
has exact synonym: B lymphoblastic leukemia/lymphoma
has exact synonym: B-ALL
has exact synonym: precursor B lymphoblastic lymphoma/leukemia
has OBO namespace: disease_ontology
id: DOID:0080630
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: B-lymphoblastic leukemia/lymphoma
annotated property: IAO_0000115
annotated target: A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow.
has db xref: url:https://en.wikipedia.org/wiki/Precursor_B-cell_lymphoblastic_leukemia

Axiom
annotated source: B-lymphoblastic leukemia/lymphoma
annotated property: hasExactSynonym
annotated target: B-ALL
has synonym type: OMO_0003012

B-cell acute lymphoblastic leukemia
type: Class
subclass of: DOID 9952
IAO_0000115: An acute lymphocytic leukemia characterized by too many B-cell lymphoblasts (immature white blood cells) in the bone marrow and blood.
has db xref: NCI:C8644
has exact synonym: B acute lymphoblastic leukemia
has exact synonym: B-cell acute lymphocytic leukemia
has OBO namespace: disease_ontology
id: DOID:0080638
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: B-cell acute lymphoblastic leukemia
annotated property: IAO_0000115
annotated target: An acute lymphocytic leukemia characterized by too many B-cell lymphoblasts (immature white blood cells) in the bone marrow and blood.
has db xref: url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/b-cell-acute-lymphoblastic-leukemia

gallbladder benign neoplasm
type: Class
subclass of: biliary tract benign neoplasm
IAO_0000115: A biliary tract benign neoplasm that is located_in the gallbladder.
has db xref: NCI:C4440
has OBO namespace: disease_ontology
id: DOID:0080640
in subset: NCIthesaurus

Axiom
annotated source: gallbladder benign neoplasm
annotated property: IAO_0000115
annotated target: A biliary tract benign neoplasm that is located_in the gallbladder.
type: ECO_0007646
has db xref: url:https://link.springer.com/chapter/10.1007/978-3-319-12985-3_15

Middle East respiratory syndrome
type: Class
subclass of: DOID 934
IAO_0000115: A Coronavirus infectious disease that is characterized by severe respiratory illness, including fever, cough, and shortness of breath and that has_material_basis_in Middle East respiratory syndrome-related coronavirus (MERS-CoV, Betacoronavirus cameli).
has db xref: NCI:C128424
has db xref: UMLS_CUI:C3694279
has exact synonym: MERS
has OBO namespace: disease_ontology
id: DOID:0080642
in subset: DO infectious disease slim
in subset: NCIthesaurus
broad match: ICD10CM:B34.2

Axiom
annotated source: Middle East respiratory syndrome
annotated property: IAO_0000115
annotated target: A Coronavirus infectious disease that is characterized by severe respiratory illness, including fever, cough, and shortness of breath and that has_material_basis_in Middle East respiratory syndrome-related coronavirus (MERS-CoV, Betacoronavirus cameli).
has db xref: url:https://en.wikipedia.org/wiki/Middle_East_respiratory_syndrome
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/23891402/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/29495250
has db xref: url:https://www.cdc.gov/mers/about/index.html
has db xref: url:https://www.who.int/health-topics/middle-east-respiratory-syndrome-coronavirus-mers

Axiom
annotated source: Middle East respiratory syndrome
annotated property: hasExactSynonym
annotated target: MERS
has synonym type: OMO_0003012

B-lymphoblastic leukemia/lymphoma with BCR-ABL1
type: Class
subclass of: B-lymphoblastic leukemia/lymphoma
IAO_0000115: A B-lymphoblastic leukemia/lymphoma that derives_from B-lymphoblasts and carries a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein.
has db xref: ICDO:9812/3
has db xref: NCI:C80331
has db xref: ORDO:585909
has db xref: UMLS_CUI:C5680319
has exact synonym: B-ALL with BCR-ABL1
has exact synonym: B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2);BCR-ABL1
has OBO namespace: disease_ontology
id: DOID:0080643
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: B-lymphoblastic leukemia/lymphoma with BCR-ABL1
annotated property: IAO_0000115
annotated target: A B-lymphoblastic leukemia/lymphoma that derives_from B-lymphoblasts and carries a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein.
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80331

B-lymphoblastic leukemia/lymphoma MLL rearranged
type: Class
subclass of: B-lymphoblastic leukemia/lymphoma
IAO_0000115: A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of a KMT2A related fusion protein.
has db xref: ICDO:9813/3
has db xref: NCI:C80342
has db xref: ORDO:585918
has exact synonym: B lymphoblastic leukemia/lymphoma with t(v;11q23); MLL rearranged
has exact synonym: B-ALL KMT2A rearranged
has exact synonym: B-lymphoblastic leukemia/lymphoma KMT2A rearranged
has exact synonym: B-lymphoblastic leukemia/lymphoma with t(v;11q23.3);KMT2A rearranged
has OBO namespace: disease_ontology
id: DOID:0080644
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: B-lymphoblastic leukemia/lymphoma MLL rearranged
annotated property: IAO_0000115
annotated target: A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of a KMT2A related fusion protein.
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80342

B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1
type: Class
subclass of: B-lymphoblastic leukemia/lymphoma
IAO_0000115: A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein.
has db xref: ICDO:9814/3
has db xref: NCI:C80343
has db xref: ORDO:585929
has exact synonym: B-ALL with ETV6-RUNX1
has exact synonym: B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1
has OBO namespace: disease_ontology
id: DOID:0080645
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1
annotated property: IAO_0000115
annotated target: A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein.
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80343

B-lymphoblastic leukemia/lymphoma with hyperdiploidy
type: Class
subclass of: B-lymphoblastic leukemia/lymphoma
IAO_0000115: A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain more than 50 and usually less than 66 chromosomes.
has db xref: ICDO:9815/3
has db xref: NCI:C80335
has db xref: ORDO:585936
has db xref: UMLS_CUI:C2698311
has exact synonym: B-ALL with hyperdiploidy
has OBO namespace: disease_ontology
id: DOID:0080646
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: B-lymphoblastic leukemia/lymphoma with hyperdiploidy
annotated property: IAO_0000115
annotated target: A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain more than 50 and usually less than 66 chromosomes.
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80335

B-lymphoblastic leukemia/lymphoma with hypodiploidy
type: Class
subclass of: B-lymphoblastic leukemia/lymphoma
IAO_0000115: A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain less than 46 chromosomes.
has db xref: ICDO:9816/3
has db xref: NCI:C80338
has db xref: ORDO:585942
has db xref: UMLS_CUI:C2698312
has exact synonym: B-ALL with hypodiploidy
has OBO namespace: disease_ontology
id: DOID:0080647
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: B-lymphoblastic leukemia/lymphoma with hypodiploidy
annotated property: IAO_0000115
annotated target: A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain less than 46 chromosomes.
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80338

B-lymphoblastic leukemia/lymphoma with IGH::IL3 fusion
type: Class
subclass of: B-lymphoblastic leukemia/lymphoma
IAO_0000115: A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3).
has db xref: ICDO:9817/3
has db xref: NCI:C80346
has db xref: ORDO:585948
has exact synonym: B-ALL with IL3-IGH
has exact synonym: B-lymphoblastic leukemia/lymphoma with IL3-IGH
has exact synonym: B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) IL3-IGH
has OBO namespace: disease_ontology
id: DOID:0080648
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: B-lymphoblastic leukemia/lymphoma with IGH::IL3 fusion
annotated property: IAO_0000115
annotated target: A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3).
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80346

B-lymphoblastic leukemia/lymphoma with TCF3-PBX1
type: Class
subclass of: B-lymphoblastic leukemia/lymphoma
IAO_0000115: A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1.
has db xref: ICDO:9818/3
has db xref: NCI:C80347
has db xref: ORDO:585956
has db xref: UMLS_CUI:C5680320
has exact synonym: B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)
has exact synonym: B-ALL with TCF3-PBX1
has exact synonym: B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3);TCF3-PBX1
has OBO namespace: disease_ontology
id: DOID:0080649
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: B-lymphoblastic leukemia/lymphoma with TCF3-PBX1
annotated property: IAO_0000115
annotated target: A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1.
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80347

B-lymphoblastic leukemia/lymphoma with iAMP21
type: Class
subclass of: B-lymphoblastic leukemia/lymphoma
IAO_0000115: A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21.
has db xref: NCI:C130039
has exact synonym: B-ALL with iAMP21
has exact synonym: Intrachromosomal amplification of chromosome 21 (iAMP21)
has OBO namespace: disease_ontology
id: DOID:0080651
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: B-lymphoblastic leukemia/lymphoma with iAMP21
annotated property: IAO_0000115
annotated target: A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21.
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C130039

uric acid urolithiasis
type: Class
subclass of: urinary system disease
IAO_0000115: An urolithiasis in which the composition of the stones is predominantly urate.
has db xref: MIM:191700
has db xref: NCI:C123245
has OBO namespace: disease_ontology
id: DOID:0080654
in subset: NCIthesaurus

Axiom
annotated source: uric acid urolithiasis
annotated property: IAO_0000115
annotated target: An urolithiasis in which the composition of the stones is predominantly urate.
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC290947/pdf/jcinvest00312-0142.pdf
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5512151/
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/14036165

45,X/46,XY mixed gonadal dysgenesis
type: Class
subclass of: mixed gonadal dysgenesis
IAO_0000115: A mixed gonadal dysgenesis that is characterized by asymmetrical gonadal development in an individual with mosaic karyotype 45,X/46,XY.
has db xref: NCI:C120199
has db xref: ORDO:1772
has OBO namespace: disease_ontology
id: DOID:0080656
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: 45,X/46,XY mixed gonadal dysgenesis
annotated property: IAO_0000115
annotated target: A mixed gonadal dysgenesis that is characterized by asymmetrical gonadal development in an individual with mosaic karyotype 45,X/46,XY.
has db xref: url:https://en.wikipedia.org/wiki/45,X/46,XY_mosaicism

diaphyseal medullary stenosis with malignant fibrous histiocytoma
type: Class
subclass of: osteochondrodysplasia
IAO_0000115: An osteochondrodysplasia that is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis and that has_material_basis_in heterozygous mutation in the MTAP gene on chromosome 9p21.
has db xref: GARD:10072
has db xref: MESH:C536169
has db xref: MIM:112250
has db xref: NCI:C122660
has db xref: ORDO:85182
has exact synonym: Hardcastle syndrome
has exact synonym: bone dysplasia-medullary fibrosarcoma syndrome
has exact synonym: diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome
has OBO namespace: disease_ontology
id: DOID:0080664
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: diaphyseal medullary stenosis with malignant fibrous histiocytoma
annotated property: IAO_0000115
annotated target: An osteochondrodysplasia that is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis and that has_material_basis_in heterozygous mutation in the MTAP gene on chromosome 9p21.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/8781110
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/22464254

luminal breast carcinoma B
type: Class
subclass of: breast carcinoma
IAO_0000115: A breast carcinoma that is characterized by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1.
has db xref: NCI:C53555
has db xref: UMLS_CUI:C3642346
has exact synonym: Luminal B Breast Carcinoma
has OBO namespace: disease_ontology
id: DOID:0080674
in subset: NCIthesaurus

Axiom
annotated source: luminal breast carcinoma B
annotated property: IAO_0000115
annotated target: A breast carcinoma that is characterized by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1.
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4167319/

diffuse midline glioma, H3 K27M-mutant
type: Class
subclass of: high grade glioma
IAO_0000115: A histone mutated tumor that is characterized by the presence of histone H3 K27M mutation located throughout the midline structures of the central nervous system.
has db xref: ICDO:9385/3
has db xref: NCI:C129309
has exact synonym: diffuse intrinsic pontine glioma
has OBO namespace: disease_ontology
id: DOID:0080684
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: diffuse midline glioma, H3 K27M-mutant
annotated property: IAO_0000115
annotated target: A histone mutated tumor that is characterized by the presence of histone H3 K27M mutation located throughout the midline structures of the central nervous system.
has db xref: url:https://braintumor.org/wp-content/assets/WHO-Central-Nervous-System-Tumor-Classification.pdf
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/31290035/
has db xref: url:https://www.frontiersin.org/articles/10.3389/fonc.2019.00031/full

Galloway-Mowat syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome that is characterized by developmental delay, progressive microcephaly, cerebral and cerebellar atrophy with extrapyramidal involvement, and optic atrophy.
has db xref: GARD:65
has db xref: MESH:C537548
has db xref: MIM:PS251300
has db xref: NCI:C132195
has db xref: ORDO:2065
has db xref: SNOMEDCT_US_2023_03_01:721297008
has db xref: UMLS_CUI:C0795949
has OBO namespace: disease_ontology
id: DOID:0080694
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Galloway-Mowat syndrome
annotated property: IAO_0000115
annotated target: A syndrome that is characterized by developmental delay, progressive microcephaly, cerebral and cerebellar atrophy with extrapyramidal involvement, and optic atrophy.
has db xref: url:https://en.wikipedia.org/wiki/Galloway_Mowat_syndrome
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/20083416/
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/26123727

medulloblastoma WNT activated
type: Class
subclass of: medulloblastoma
IAO_0000115: A medulloblastoma that is characterized as a molecular subtype by activation of the WNT pathway and TP53 mutations may be present or absent.
has db xref: ICDO:9475/3
has db xref: NCI:C129440
has OBO namespace: disease_ontology
id: DOID:0080702
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: medulloblastoma WNT activated
annotated property: IAO_0000115
annotated target: A medulloblastoma that is characterized as a molecular subtype by activation of the WNT pathway and TP53 mutations may be present or absent.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/29582169/
has db xref: url:https://radiopaedia.org/articles/medulloblastoma-wnt-subgroup?lang=us

medulloblastoma SHH activated
type: Class
subclass of: medulloblastoma
IAO_0000115: A medulloblastoma that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and TP53 mutations that may be present or absent.
has db xref: NCI:C129441
has OBO namespace: disease_ontology
id: DOID:0080703
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: medulloblastoma SHH activated
annotated property: IAO_0000115
annotated target: A medulloblastoma that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and TP53 mutations that may be present or absent.
has db xref: url:https://onlinelibrary.wiley.com/doi/full/10.1002/acn3.762
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/29582169/
has db xref: url:https://radiopaedia.org/articles/medulloblastoma-shh-subgroup?lang=us

medulloblastoma SHH activated and TP53 mutant
type: Class
subclass of: medulloblastoma SHH activated
IAO_0000115: A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations.
has db xref: ICDO:9476/3
has db xref: NCI:C129442
has OBO namespace: disease_ontology
id: DOID:0080704
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: medulloblastoma SHH activated and TP53 mutant
annotated property: IAO_0000115
annotated target: A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations.
has db xref: url:https://ascopubs.org/doi/10.1200/JCO.2012.48.5052
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5490254/

medulloblastoma SHH activated and TP53 wild-type
type: Class
subclass of: medulloblastoma SHH activated
IAO_0000115: A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations.
has db xref: ICDO:9471/3
has db xref: NCI:C129443
has exact synonym: Medulloblastoma SHH-Activated TP53-Wildtype
has OBO namespace: disease_ontology
id: DOID:0080705
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: medulloblastoma SHH activated and TP53 wild-type
annotated property: IAO_0000115
annotated target: A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations.
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4743072/

medulloblastoma non-WNT/non-SHH
type: Class
subclass of: medulloblastoma
IAO_0000115: A medulloblastoma that is characterized as a molecular subtype that is not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway and TP53 mutations are absent.
has db xref: ICDO:9477/3
has db xref: NCI:C129444
has OBO namespace: disease_ontology
id: DOID:0080706
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: medulloblastoma non-WNT/non-SHH
annotated property: IAO_0000115
annotated target: A medulloblastoma that is characterized as a molecular subtype that is not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway and TP53 mutations are absent.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/30392813/

medulloblastoma non-WNT/non-SHH group 3
type: Class
subclass of: medulloblastoma non-WNT/non-SHH
IAO_0000115: A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present.
has db xref: NCI:C129445
has OBO namespace: disease_ontology
id: DOID:0080707
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: medulloblastoma non-WNT/non-SHH group 3
annotated property: IAO_0000115
annotated target: A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/29427151/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/30876441/

medulloblastoma non-WNT/non-SHH group 4
type: Class
subclass of: medulloblastoma non-WNT/non-SHH
IAO_0000115: A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by the absence of MYC amplifications and TP53 gene mutations, while chromosome 17 abnormalities may be present.
has db xref: NCI:C129446
has OBO namespace: disease_ontology
id: DOID:0080708
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: medulloblastoma non-WNT/non-SHH group 4
annotated property: IAO_0000115
annotated target: A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by the absence of MYC amplifications and TP53 gene mutations, while chromosome 17 abnormalities may be present.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/29427151/

GNE myopathy
type: Class
subclass of: myopathy
IAO_0000115: A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis.
has db xref: GARD:9493
has db xref: MESH:C536816
has db xref: MESH:C538329
has db xref: MIM:605820
has db xref: NCI:C176900
has db xref: ORDO:602
has db xref: SNOMEDCT_US_2023_03_01:702382000
has db xref: UMLS_CUI:C1833373
has db xref: UMLS_CUI:C1853926
has exact synonym: Distal myopathy, Nonaka type
has exact synonym: Hereditary Inclusion Body Myopathy
has exact synonym: Nonaka myopathy
has exact synonym: inclusion body myopathy 2
has OBO namespace: disease_ontology
has related synonym: Distal Myopathy with Rimmed Vacuoles
id: DOID:0080718
in subset: DO rare slim
in subset: NCIthesaurus
comment: Distal myopathy with rimmed vacuoles is a valid exact synonym (GNE gene), this name has been reused by OMIM for another disease, MIM:617158 (SQSTM1 gene) [LS].

Axiom
annotated source: GNE myopathy
annotated property: IAO_0000115
annotated target: A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis.
has db xref: url:https://ghr.nlm.nih.gov/condition/inclusion-body-myopathy-2
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/29720219/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/30338442/
has db xref: url:https://rarediseases.org/rare-diseases/gne-myopathy/
has db xref: url:https://www.genome.gov/Current-NHGRI-Clinical-Studies/GNE-Myopathy

beta-thalassemia major
type: Class
subclass of: beta thalassemia
IAO_0000115: A beta thalassemia that is characterized by severe anemia and enlarged liver and spleen before 2 years of age.
has db xref: NCI:C129699
has db xref: ORDO:231214
has exact synonym: Cooley's anemia
has OBO namespace: disease_ontology
id: DOID:0080771
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: beta-thalassemia major
annotated property: IAO_0000115
annotated target: A beta thalassemia that is characterized by severe anemia and enlarged liver and spleen before 2 years of age.
has db xref: url:https://ghr.nlm.nih.gov/condition/beta-thalassemia
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/12480689/
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/19258591

delta beta-thalassemia
type: Class
subclass of: beta thalassemia
IAO_0000115: A beta thalassemia that is characterized by decreased or absent synthesis of both the delta- and beta-globin chains, which leads to a compensatory increase in fetal gamma-chain synthesis. This disorder results in a microcytic anemia that is clinically mild.
has db xref: NCI:C172823
has db xref: ORDO:231237
has OBO namespace: disease_ontology
id: DOID:0080773
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: delta beta-thalassemia
annotated property: IAO_0000115
annotated target: A beta thalassemia that is characterized by decreased or absent synthesis of both the delta- and beta-globin chains, which leads to a compensatory increase in fetal gamma-chain synthesis. This disorder results in a microcytic anemia that is clinically mild.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/30706898/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/31444804/

complete androgen insensitivity syndrome
type: Class
subclass of: DOID 4674
IAO_0000115: An androgen insensitivity syndrome that is characterized by complete androgen insensitivity as the body cannot use androgens at all, having the external sex characteristics of females but no uterus.
has db xref: ICD10CM:E34.51
has db xref: MESH:D013734
has db xref: NCI:C120191
has db xref: ORDO:99429
has db xref: SNOMEDCT_US_2023_03_01:267486007
has db xref: UMLS_CUI:C0936016
has OBO namespace: disease_ontology
id: DOID:0080775
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: complete androgen insensitivity syndrome
annotated property: IAO_0000115
annotated target: An androgen insensitivity syndrome that is characterized by complete androgen insensitivity as the body cannot use androgens at all, having the external sex characteristics of females but no uterus.
has db xref: url:https://ghr.nlm.nih.gov/condition/androgen-insensitivity-syndrome

lung sarcomatoid carcinoma
type: Class
subclass of: lung carcinoma
IAO_0000115: A lung carcinoma that is characterized by the presence of a sarcomatoid component often associated with giant cell differentiation.
has db xref: NCI:C45540
has exact synonym: Sarcomatoid carcinoma of the lung
has exact synonym: pulmonary sarcomatoid carcinoma
has OBO namespace: disease_ontology
id: DOID:0080777
in subset: NCIthesaurus

Axiom
annotated source: lung sarcomatoid carcinoma
annotated property: IAO_0000115
annotated target: A lung carcinoma that is characterized by the presence of a sarcomatoid component often associated with giant cell differentiation.
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C45540
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/28081478/

plasmablastic lymphoma
type: Class
subclass of: DOID 707
IAO_0000115: A large B-cell lymphoma that is characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells.
has db xref: ICDO:9735/3
has db xref: MESH:D000069293
has db xref: NCI:C7224
has OBO namespace: disease_ontology
id: DOID:0080779
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: plasmablastic lymphoma
annotated property: IAO_0000115
annotated target: A large B-cell lymphoma that is characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells.
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467349/
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7430862/

acute erythroid leukemia
type: Class
subclass of: DOID 9119
IAO_0000115: An acute myeloid leukemia that is characterized by a predominant immature erythroid population.
has db xref: ICDO:9840/3
has db xref: NCI:C8923
has OBO namespace: disease_ontology
id: DOID:0080780
in subset: NCIthesaurus

Axiom
annotated source: acute erythroid leukemia
annotated property: IAO_0000115
annotated target: An acute myeloid leukemia that is characterized by a predominant immature erythroid population.
has db xref: url:https://en.wikipedia.org/wiki/Acute_erythroid_leukemia

benign exocrine pancreas neoplasm
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: An endocrine organ benign neoplasm arising from the exocrine pancreas.
has db xref: NCI:C4613
has OBO namespace: disease_ontology
id: DOID:0080781
in subset: NCIthesaurus

Axiom
annotated source: benign exocrine pancreas neoplasm
annotated property: IAO_0000115
annotated target: An endocrine organ benign neoplasm arising from the exocrine pancreas.
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4613

childhood acute megakaryoblastic leukemia
type: Class
subclass of: DOID 8761
IAO_0000115: An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood.
has db xref: NCI:C7972
has exact synonym: pediatric non-Down syndrome acute megakaryoblastic leukemia
has OBO namespace: disease_ontology
id: DOID:0080794
in subset: DO cancer slim
in subset: DO childhood cancer slim
in subset: NCIthesaurus

Axiom
annotated source: childhood acute megakaryoblastic leukemia
annotated property: IAO_0000115
annotated target: An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/28867167/
has db xref: url:https://www.nature.com/articles/ng.3772
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7309653/

acute basophilic leukemia
type: Class
subclass of: DOID 9119
IAO_0000115: An acute myeloid leukemia that is characterized by primary differentiation to basophils.
has db xref: ICDO:9870/3
has db xref: NCI:C3164
has OBO namespace: disease_ontology
id: DOID:0080795
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: acute basophilic leukemia
annotated property: IAO_0000115
annotated target: An acute myeloid leukemia that is characterized by primary differentiation to basophils.
has db xref: url:http://www.pathologyoutlines.com/topic/leukemiabasophil.html
has db xref: url:https://en.wikipedia.org/wiki/Acute_basophilic_leukemia

core binding factor acute myeloid leukemia
type: Class
subclass of: DOID 9119
IAO_0000115: An acute myeloid leukemia that is characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis.
has db xref: NCI:C122688
has OBO namespace: disease_ontology
id: DOID:0080796
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: core binding factor acute myeloid leukemia
annotated property: IAO_0000115
annotated target: An acute myeloid leukemia that is characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/26980726/

nasal type extranodal NK/T-cell lymphoma
type: Class
subclass of: T-cell non-Hodgkin lymphoma
IAO_0000115: A mature T-cell and NK-cell lymphoma that is characterized by an often angiocentric and angiodestructive cellular infiltrate composed of EBV positive NK/T cells.
has db xref: ICDO:9719/3
has db xref: NCI:C4684
has OBO namespace: disease_ontology
id: DOID:0080797
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: nasal type extranodal NK/T-cell lymphoma
annotated property: IAO_0000115
annotated target: A mature T-cell and NK-cell lymphoma that is characterized by an often angiocentric and angiodestructive cellular infiltrate composed of EBV positive NK/T cells.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/29602763/

myeloid leukemia associated with Down Syndrome
type: Class
subclass of: DOID 8761
IAO_0000115: An acute megakaryocytic leukemia occurring in children with Down syndrome and that has_material_basis_in mutation in the GATA1 gene.
has db xref: ICDO:9898/3
has db xref: NCI:C43223
has OBO namespace: disease_ontology
id: DOID:0080798
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: myeloid leukemia associated with Down Syndrome
annotated property: IAO_0000115
annotated target: An acute megakaryocytic leukemia occurring in children with Down syndrome and that has_material_basis_in mutation in the GATA1 gene.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/26910243/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/31606922/

sinonasal undifferentiated carcinoma
type: Class
subclass of: DOID 4931
IAO_0000115: A nasal cavity carcinoma that arises from the sinonasal tract and that is characterized by the presence of small to medium size malignant cells.
has db xref: MESH:C537344
has db xref: NCI:C54294
has OBO namespace: disease_ontology
id: DOID:0080799
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: sinonasal undifferentiated carcinoma
annotated property: IAO_0000115
annotated target: A nasal cavity carcinoma that arises from the sinonasal tract and that is characterized by the presence of small to medium size malignant cells.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/30806835/

salivary gland mucinous adenocarcinoma
type: Class
subclass of: DOID 8618
IAO_0000115: A salivary gland carcinoma that is characterized by the presence of large pools of extracellular mucin in which clusters of malignant epithelial cells are found.
has db xref: NCI:C62193
has OBO namespace: disease_ontology
id: DOID:0080800
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: salivary gland mucinous adenocarcinoma
annotated property: IAO_0000115
annotated target: A salivary gland carcinoma that is characterized by the presence of large pools of extracellular mucin in which clusters of malignant epithelial cells are found.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/26908552/

human cytomegalovirus infection
type: Class
subclass of: DOID 934
IAO_0000115: A viral infectious disease that has_material_basis_in Human betaherpesvirus 5 (Cytomegalovirus humanbeta5).
has db xref: ICD10CM:B25
has db xref: ICD9CM:078.5
has db xref: MESH:D003586
has db xref: NCI:C53649
has db xref: SNOMEDCT_US_2025_05_01:28944009
has db xref: UMLS_CUI:C0010823
has OBO namespace: disease_ontology
id: DOID:0080827
in subset: DO infectious disease slim
in subset: NCIthesaurus
narrow match: ICD10CM:B25.9

Axiom
annotated source: human cytomegalovirus infection
annotated property: IAO_0000115
annotated target: A viral infectious disease that has_material_basis_in Human betaherpesvirus 5 (Cytomegalovirus humanbeta5).
type: ECO_0007645
type: ECO_0007646
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/25205255/
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK459185/

low grade glioma
type: Class
subclass of: disease
IAO_0000115: A cell type benign neoplasm that has_material_basis_in glial cells (astrocytes, oligodendrocytes or ependymocytes).
has alternative id: DOID:0060101
has db xref: NCI:C132067
has exact synonym: benign glioma
has OBO namespace: disease_ontology
id: DOID:0080829
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: low grade glioma
annotated property: IAO_0000115
annotated target: A cell type benign neoplasm that has_material_basis_in glial cells (astrocytes, oligodendrocytes or ependymocytes).
has db xref: url:http://www.danafarberbostonchildrens.org/conditions/brain-tumor/low-grade-glioma.aspx
has db xref: url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/glioma
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4361022/

intracranial meningioma
type: Class
subclass of: meningioma
IAO_0000115: A meningioma that arises within the cranial cavity.
has db xref: MESH:D008579
has db xref: NCI:C4656
has db xref: SNOMEDCT_US_2023_03_01:302820008
has db xref: UMLS_CUI:C0349604
has OBO namespace: disease_ontology
id: DOID:0080842
in subset: NCIthesaurus

Axiom
annotated source: intracranial meningioma
annotated property: IAO_0000115
annotated target: A meningioma that arises within the cranial cavity.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/17961033/

supratentorial meningioma
type: Class
subclass of: meningioma
IAO_0000115: A meningioma that affects the supratentorial brain.
has db xref: NCI:C6971
has db xref: UMLS_CUI:C1334698
has OBO namespace: disease_ontology
id: DOID:0080843
in subset: NCIthesaurus

Axiom
annotated source: supratentorial meningioma
annotated property: IAO_0000115
annotated target: A meningioma that affects the supratentorial brain.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/26636386/

anaplastic pleomorphic xanthoastrocytoma
type: Class
subclass of: malignant astrocytoma
IAO_0000115: A malignant astrocytoma that is characterized by the presence of five or more mitoses per 10 high-power fields.
has db xref: NCI:C129327
has OBO namespace: disease_ontology
id: DOID:0080854
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: anaplastic pleomorphic xanthoastrocytoma
annotated property: IAO_0000115
annotated target: A malignant astrocytoma that is characterized by the presence of five or more mitoses per 10 high-power fields.
has db xref: url:https://www.hindawi.com/journals/crinm/2018/6428492/

IDH-mutant anaplastic astrocytoma
type: Class
subclass of: anaplastic astrocytoma
IAO_0000115: An anaplastic astrocytoma carrying IDH mutations.
has db xref: NCI:C185167
has OBO namespace: disease_ontology
id: DOID:0080875
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: IDH-mutant anaplastic astrocytoma
annotated property: IAO_0000115
annotated target: An anaplastic astrocytoma carrying IDH mutations.
has db xref: url:https://www.pathologyoutlines.com/topic/anaastroidhmutant.html

IDH-wildtype anaplastic astrocytoma
type: Class
subclass of: anaplastic astrocytoma
IAO_0000115: An anaplastic astrocytoma lacking mutations in IDH1 or IDH2 genes.
has db xref: ICDO:9401/3
has db xref: NCI:C129291
has OBO namespace: disease_ontology
id: DOID:0080876
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: IDH-wildtype anaplastic astrocytoma
annotated property: IAO_0000115
annotated target: An anaplastic astrocytoma lacking mutations in IDH1 or IDH2 genes.
has db xref: url:https://www.pathologyoutlines.com/topic/cnstumoranaastroIDHwild.html

astrocytoma, IDH-mutant, grade 4
type: Class
subclass of: IDH-mutant anaplastic astrocytoma
IAO_0000115: An IDH-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas.
has db xref: ICDO:9445/3
has db xref: NCI:C167335
has OBO namespace: disease_ontology
id: DOID:0080877
in subset: DO cancer slim
in subset: NCIthesaurus
comment: The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas, removed previous name glioblastoma, IDH-mutant.

Axiom
annotated source: astrocytoma, IDH-mutant, grade 4
annotated property: IAO_0000115
annotated target: An IDH-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/33692446/

IDH-wildtype glioblastoma
type: Class
subclass of: glioblastoma
IAO_0000115: A glioblastoma that is characterized by high cellularity, high mitotic activity, necrosis or microvascular proliferation and that lacks mutations in IDH genes.
has db xref: ICDO:9440/3
has db xref: NCI:C39750
has OBO namespace: disease_ontology
id: DOID:0080878
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: IDH-wildtype glioblastoma
annotated property: IAO_0000115
annotated target: A glioblastoma that is characterized by high cellularity, high mitotic activity, necrosis or microvascular proliferation and that lacks mutations in IDH genes.
has db xref: url:https://www.pathologyoutlines.com/topic/cnstumortumorglioIDHwild.html

diffuse glioma, H3 G34 mutant
type: Class
subclass of: high grade glioma
IAO_0000115: A histone mutated tumor that has_material_basis_in mutations in codon 34 of the H3 histone family 3A protein.
has db xref: ICDO:9385/3
has db xref: NCI:C185371
has OBO namespace: disease_ontology
id: DOID:0080880
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: diffuse glioma, H3 G34 mutant
annotated property: IAO_0000115
annotated target: A histone mutated tumor that has_material_basis_in mutations in codon 34 of the H3 histone family 3A protein.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/30358620/

IDH-mutant and 1p/19q-codeleted oligodendroglioma
type: Class
subclass of: DOID 7154
IAO_0000115: An anaplastic oligodendroglioma that has_material_basis_in IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion).
has db xref: NCI:C129321
has exact synonym: Oligodendroglioma, IDH-mutant and 1p/19q-codeleted
has exact synonym: anaplastic oligodendroglioma, IDH-mutant and 1p/19q-codeleted
has OBO namespace: disease_ontology
id: DOID:0080882
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: IDH-mutant and 1p/19q-codeleted oligodendroglioma
annotated property: IAO_0000115
annotated target: An anaplastic oligodendroglioma that has_material_basis_in IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion).
has db xref: url:https://www.nature.com/articles/s41598-020-68733-5
has db xref: url:https://www.pathologyoutlines.com/topic/cnstumoroligodendrogliomaidhmutant.html

spinal ependymoma, MYCN-amplified
type: Class
subclass of: DOID 5503
IAO_0000115: A spinal cord ependymoma that is characterized by MYCN amplification.
has db xref: ICDO:9396/3
has db xref: NCI:C186494
has exact synonym: Spinal Cord Ependymoma, MYCN Amplified
has exact synonym: spinal ependymoma, MYCN
has OBO namespace: disease_ontology
id: DOID:0080888
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: spinal ependymoma, MYCN-amplified
annotated property: IAO_0000115
annotated target: A spinal cord ependymoma that is characterized by MYCN amplification.
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6851394/

RELA fusion-positive ependymoma
type: Class
subclass of: DOID 5074
IAO_0000115: A supratentorial ependymoma that has_material_basis_in presence of a RELA fusion gene.
has db xref: ICDO:9396/3
has db xref: NCI:C129351
has db xref: ORDO:530792
has exact synonym: C11orf95 fusion-positive supratentorial ependymoma
has exact synonym: Supratentorial C11ORF95-RELA fused ependymoma
has OBO namespace: disease_ontology
id: DOID:0080892
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: RELA fusion-positive ependymoma
annotated property: IAO_0000115
annotated target: A supratentorial ependymoma that has_material_basis_in presence of a RELA fusion gene.
has db xref: url:https://www.pathologyoutlines.com/topic/cnstumorependymomarelafusion.html

rapidly involuting congenital hemangioma
type: Class
subclass of: hemangioma
IAO_0000115: A hemangioma that is characterized by complete regression.
has db xref: NCI:C172207
has db xref: ORDO:141184
has OBO namespace: disease_ontology
id: DOID:0080895
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: rapidly involuting congenital hemangioma
annotated property: IAO_0000115
annotated target: A hemangioma that is characterized by complete regression.
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5786408/

lung pleomorphic carcinoma
type: Class
subclass of: DOID 5662
IAO_0000115: A pleomorphic carcinoma that is characterized by the presence of malignant glandular or squamous cells associated with malignant giant and spindle cells and that is located_in the lung.
has db xref: NCI:C45542
has OBO namespace: disease_ontology
id: DOID:0080899
in subset: NCIthesaurus

Axiom
annotated source: lung pleomorphic carcinoma
annotated property: IAO_0000115
annotated target: A pleomorphic carcinoma that is characterized by the presence of malignant glandular or squamous cells associated with malignant giant and spindle cells and that is located_in the lung.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/31355240/

embryonal tumor with multilayered rosettes, C19MC-altered
type: Class
subclass of: embryonal tumor with multilayered rosettes
IAO_0000115: An embryonal tumor with multilayered rosettes that is characterized by the presence of multilayered rosettes formation and the presence of amplification of the C19MC region on chromosome 19 (19q13.42).
has alternative id: DOID:4794
has db xref: MESH:D018242
has db xref: NCI:C4915
has db xref: SNOMEDCT_US_2023_03_01:253070006
has db xref: UMLS_CUI:C0700367
has exact synonym: ependymoblastoma
has OBO namespace: disease_ontology
id: DOID:0080903
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: embryonal tumor with multilayered rosettes, C19MC-altered
annotated property: IAO_0000115
annotated target: An embryonal tumor with multilayered rosettes that is characterized by the presence of multilayered rosettes formation and the presence of amplification of the C19MC region on chromosome 19 (19q13.42).
has db xref: url:https://radiopaedia.org/articles/embryonal-tumours-with-multilayered-rosettes-etmr?lang=us
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5718304/

central nervous system neuroblastoma
type: Class
subclass of: DOID 4439
IAO_0000115: A central nervous system germ cell tumor that is characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation and that arising from the cerebral hemispheres.
has db xref: NCI:C4826
has OBO namespace: disease_ontology
id: DOID:0080905
in subset: NCIthesaurus

Axiom
annotated source: central nervous system neuroblastoma
annotated property: IAO_0000115
annotated target: A central nervous system germ cell tumor that is characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation and that arising from the cerebral hemispheres.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/29520437/

castration-resistant prostate carcinoma
type: Class
subclass of: prostate carcinoma
IAO_0000115: A prostate carcinoma that is characterized by continued growth and spread despite the surgical removal of the testes or medical intervention to block androgen production.
has db xref: MESH:D064129
has db xref: NCI:C130234
has OBO namespace: disease_ontology
id: DOID:0080909
in subset: NCIthesaurus
broad match: MESH:D064129

Axiom
annotated source: castration-resistant prostate carcinoma
annotated property: IAO_0000115
annotated target: A prostate carcinoma that is characterized by continued growth and spread despite the surgical removal of the testes or medical intervention to block androgen production.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/30324351/

histiocytic sarcoma
type: Class
subclass of: DOID 5621
IAO_0000115: A histiocytic and dendritic cell cancer that is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes.
has db xref: ICDO:9755/3
has db xref: MESH:D054747
has db xref: NCI:C27349
has OBO namespace: disease_ontology
id: DOID:0080915
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: histiocytic sarcoma
annotated property: IAO_0000115
annotated target: A histiocytic and dendritic cell cancer that is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes.
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520642/

erythroleukemia
type: Class
subclass of: acute erythroid leukemia
IAO_0000115: An acute erythroid leukemia characterized by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow.
has db xref: NCI:C7152
has OBO namespace: disease_ontology
id: DOID:0080916
in subset: NCIthesaurus

Axiom
annotated source: erythroleukemia
annotated property: IAO_0000115
annotated target: An acute erythroid leukemia characterized by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow.
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5857409/

polymicrogyria
type: Class
subclass of: DOID 936
IAO_0000115: A brain disease that is characterized by malformation of the developing brain characterized by abnormal cortical lamination and an unusual folding pattern of the cerebral cortex such that all or part of the brain surface is taken up by an excessive number of small folds (gyri).
has db xref: MESH:D065706
has db xref: NCI:C116936
has OBO namespace: disease_ontology
id: DOID:0080918
in subset: NCIthesaurus

Axiom
annotated source: polymicrogyria
annotated property: IAO_0000115
annotated target: A brain disease that is characterized by malformation of the developing brain characterized by abnormal cortical lamination and an unusual folding pattern of the cerebral cortex such that all or part of the brain surface is taken up by an excessive number of small folds (gyri).
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/10489031/
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK1329/

bilateral frontoparietal polymicrogyria
type: Class
subclass of: DOID 936
IAO_0000115: A polymicrogyria that is characterized by a global developmental delay with impaired intellectual development, motor delay, poor speech development, and early-onset seizures, often focal or atypical absence and that has_material_basis_in homozygous mutation in the ADGRG1 gene on chromosome 16q21.
has db xref: GARD:10784
has db xref: MIM:606854
has db xref: NCI:C148367
has exact synonym: CDCBM14A
has exact synonym: complex cortical dysplasia with other brain malformations 14A
has OBO namespace: disease_ontology
id: DOID:0080922
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: bilateral frontoparietal polymicrogyria
annotated property: IAO_0000115
annotated target: A polymicrogyria that is characterized by a global developmental delay with impaired intellectual development, motor delay, poor speech development, and early-onset seizures, often focal or atypical absence and that has_material_basis_in homozygous mutation in the ADGRG1 gene on chromosome 16q21.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/34863467/

Axiom
annotated source: bilateral frontoparietal polymicrogyria
annotated property: hasExactSynonym
annotated target: CDCBM14A
has synonym type: OMO_0003012

cytochrome P450 oxidoreductase deficiency
type: Class
subclass of: DOID 655
IAO_0000115: A steroid inherited metabolic disorder that is characterized by combined deficiency of P450C17 and P450C21 and accumulation of steroid metabolites and that has_material_basis_in homozygous or compound heterozygous mutations in the POR gene, which encodes cytochrome p450 oxidoreductase, on chromosome 7q11.2.
has db xref: GARD:12664
has db xref: MIM:613571
has db xref: NCI:C131302
has OBO namespace: disease_ontology
id: DOID:0080925
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: cytochrome P450 oxidoreductase deficiency
annotated property: IAO_0000115
annotated target: A steroid inherited metabolic disorder that is characterized by combined deficiency of P450C17 and P450C21 and accumulation of steroid metabolites and that has_material_basis_in homozygous or compound heterozygous mutations in the POR gene, which encodes cytochrome p450 oxidoreductase, on chromosome 7q11.2.
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK1419/

childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered
type: Class
subclass of: DOID 7841
IAO_0000115: A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the supratentorial brain and occurs in children.
has db xref: NCI:C6772
has OBO namespace: disease_ontology
id: DOID:0080956
in subset: DO cancer slim
in subset: DO childhood cancer slim
in subset: NCIthesaurus

Axiom
annotated source: childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered
annotated property: IAO_0000115
annotated target: A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the supratentorial brain and occurs in children.
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C6772

acute myeloid leukemia with BCR-ABL1
type: Class
subclass of: DOID 9119
IAO_0000115: An acute myeloid leukemia that is characterized by blasts that harbor BCR-ABL1 translocation in the absence of a history and clinical and laboratory features of chronic myelogenous leukemia.
has db xref: ICDO:9912/3
has db xref: NCI:C129785
has exact synonym: Acute myeleoid leukemia with BCR-ABL1
has OBO namespace: disease_ontology
id: DOID:0080976
in subset: NCIthesaurus

Axiom
annotated source: acute myeloid leukemia with BCR-ABL1
annotated property: IAO_0000115
annotated target: An acute myeloid leukemia that is characterized by blasts that harbor BCR-ABL1 translocation in the absence of a history and clinical and laboratory features of chronic myelogenous leukemia.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/27297971/

diffuse large B-cell lymphoma activated B-cell type
type: Class
subclass of: diffuse large B-cell lymphoma
IAO_0000115: A diffuse large B-cell lymphoma that is characterized by the expression of CD44, PKCbeta1, Cyclin D2, BCL-2, and IRF4/MUM1 genes.
has db xref: NCI:C36081
has exact synonym: DLBCL ABC type
has OBO namespace: disease_ontology
id: DOID:0080996
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: diffuse large B-cell lymphoma activated B-cell type
annotated property: IAO_0000115
annotated target: A diffuse large B-cell lymphoma that is characterized by the expression of CD44, PKCbeta1, Cyclin D2, BCL-2, and IRF4/MUM1 genes.
has db xref: url:https://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C36081

diffuse large B-cell lymphoma germinal center B-cell type
type: Class
subclass of: diffuse large B-cell lymphoma
IAO_0000115: A diffuse large B-cell lymphoma that is characterized by the expression of CD10, BCL-6, A-myb, and LMO2 genes, BCL-2 translocation, and c-REL amplification.
has db xref: NCI:C36080
has OBO namespace: disease_ontology
id: DOID:0080997
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: diffuse large B-cell lymphoma germinal center B-cell type
annotated property: IAO_0000115
annotated target: A diffuse large B-cell lymphoma that is characterized by the expression of CD10, BCL-6, A-myb, and LMO2 genes, BCL-2 translocation, and c-REL amplification.
has db xref: url:https://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C36080

high-grade B-cell lymphoma double-hit/triple-hit
type: Class
subclass of: DOID 707
IAO_0000115: A large B-cell lymphoma that is characterized by the abnormal rearrangement of two genes, MYC gene and either BCL2 or BCL6 genes.
has db xref: NCI:C125904
has exact synonym: HGBL-DH/TH
has exact synonym: High Grade B-Cell Lymphoma with MYC and BCL2 or BCL6 Rearrangements
has OBO namespace: disease_ontology
id: DOID:0081004
in subset: NCIthesaurus

Axiom
annotated source: high-grade B-cell lymphoma double-hit/triple-hit
annotated property: IAO_0000115
annotated target: A large B-cell lymphoma that is characterized by the abnormal rearrangement of two genes, MYC gene and either BCL2 or BCL6 genes.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/29475959/

Axiom
annotated source: high-grade B-cell lymphoma double-hit/triple-hit
annotated property: hasExactSynonym
annotated target: HGBL-DH/TH
has synonym type: OMO_0003012

benign peritoneal solitary fibrous tumor
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A peritoneal benign neoplasm that is characterized by the presence of prominent hemangiopericytoma-like vessels.
has db xref: NCI:C126357
has OBO namespace: disease_ontology
id: DOID:0081026
in subset: NCIthesaurus

Axiom
annotated source: benign peritoneal solitary fibrous tumor
annotated property: IAO_0000115
annotated target: A peritoneal benign neoplasm that is characterized by the presence of prominent hemangiopericytoma-like vessels.
has db xref: url:https://medscimonit.com/abstract/index/idArt/459077/act/3

glycogen-rich carcinoma
type: Class
subclass of: breast adenocarcinoma
IAO_0000115: A breast adenocarcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen.
has db xref: ICDO:8315/3
has db xref: NCI:C4153
has db xref: SNOMEDCT_US_2023_03_01:189656007
has db xref: UMLS_CUI:C0334319
has OBO namespace: disease_ontology
id: DOID:0081028
in subset: NCIthesaurus

Axiom
annotated source: glycogen-rich carcinoma
annotated property: IAO_0000115
annotated target: A breast adenocarcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen.
has db xref: url:https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC5350496/

mixed phenotype acute leukemia with BCR-ABL1
type: Class
subclass of: DOID 9953
IAO_0000115: An acute biphenotypic leukemia that is characterized by blasts that also carry the translocation t(9;22)(q34.1;q11.2) by karyotypic analysis or the BCR-ABL1 translocation by FISH or PCR.
has db xref: ICDO:9806/3
has db xref: NCI:C82192
has exact synonym: Mixed Phenotype Acute Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
has OBO namespace: disease_ontology
id: DOID:0081036
in subset: NCIthesaurus

Axiom
annotated source: mixed phenotype acute leukemia with BCR-ABL1
annotated property: IAO_0000115
annotated target: An acute biphenotypic leukemia that is characterized by blasts that also carry the translocation t(9;22)(q34.1;q11.2) by karyotypic analysis or the BCR-ABL1 translocation by FISH or PCR.
has db xref: url:https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC6369089/

mixed phenotype acute leukemia with MLL rearranged
type: Class
subclass of: DOID 9953
IAO_0000115: An acute biphenotypic leukemia that is characterized by blasts which carry a translocation between the MLL (KMT2A) gene at 11q23.3 and another gene partner.
has db xref: ICDO:9807/3
has db xref: NCI:C82203
has db xref: UMLS_CUI:C2826048
has exact synonym: Mixed Phenotype Acute Leukemia with t(v;11q23.3); MLL Rearranged
has OBO namespace: disease_ontology
id: DOID:0081037
in subset: NCIthesaurus

Axiom
annotated source: mixed phenotype acute leukemia with MLL rearranged
annotated property: IAO_0000115
annotated target: An acute biphenotypic leukemia that is characterized by blasts which carry a translocation between the MLL (KMT2A) gene at 11q23.3 and another gene partner.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/32350732/

mixed phenotype acute leukemia, B/myeloid
type: Class
subclass of: DOID 9953
IAO_0000115: An acute biphenotypic leukemia that is characterized by blasts which express B-lymphoid and myeloid lineage markers but are negative for MLL translocation and t(9;22)(q34;q11.2) translocation.
has db xref: ICDO:9808/3
has db xref: NCI:C82212
has OBO namespace: disease_ontology
id: DOID:0081038
in subset: NCIthesaurus

Axiom
annotated source: mixed phenotype acute leukemia, B/myeloid
annotated property: IAO_0000115
annotated target: An acute biphenotypic leukemia that is characterized by blasts which express B-lymphoid and myeloid lineage markers but are negative for MLL translocation and t(9;22)(q34;q11.2) translocation.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/29686566/

B-cell prolymphocytic leukemia
type: Class
subclass of: prolymphocytic leukemia
IAO_0000115: A prolymphocytic leukemia that is characterized by medium-sized, round lymphoid cells with prominent nucleoli exceeding 55% of lymphoid cells in the blood.
has db xref: GARD:8223
has db xref: ICDO:9833/3
has db xref: NCI:C4753
has db xref: ORDO:86852
has exact synonym: B Cell Prolymphocytic Leukemia
has exact synonym: Prolymphocytic leukemia, B-cell type
has OBO namespace: disease_ontology
id: DOID:0081041
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: B-cell prolymphocytic leukemia
annotated property: IAO_0000115
annotated target: A prolymphocytic leukemia that is characterized by medium-sized, round lymphoid cells with prominent nucleoli exceeding 55% of lymphoid cells in the blood.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/34293709/

T-cell prolymphocytic leukemia
type: Class
subclass of: prolymphocytic leukemia
IAO_0000115: A prolymphocytic leukemia that is characterized by the proliferation of small to medium sized prolymphocytes with a mature T-cell phenotype, involving the blood, bone marrow, lymph nodes, liver, spleen, and skin.
has db xref: ICDO:9834/3
has db xref: NCI:C4752
has db xref: ORDO:86871
has exact synonym: Prolymphocytic leukemia, T-cell type
has exact synonym: T Cell Prolymphocytic Leukemia
has OBO namespace: disease_ontology
id: DOID:0081042
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: T-cell prolymphocytic leukemia
annotated property: IAO_0000115
annotated target: A prolymphocytic leukemia that is characterized by the proliferation of small to medium sized prolymphocytes with a mature T-cell phenotype, involving the blood, bone marrow, lymph nodes, liver, spleen, and skin.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/31082044/

hepatosplenic T-cell lymphoma
type: Class
subclass of: T-cell non-Hodgkin lymphoma
IAO_0000115: A mature T-cell and NK-cell lymphoma that is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids and that originates from cytotoxic T-cells, usually of gamma/delta T-cell type.
has db xref: NCI:C8459
has db xref: ORDO:86882
has OBO namespace: disease_ontology
id: DOID:0081049
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: hepatosplenic T-cell lymphoma
annotated property: IAO_0000115
annotated target: A mature T-cell and NK-cell lymphoma that is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids and that originates from cytotoxic T-cells, usually of gamma/delta T-cell type.
has db xref: url:https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC7596851/

primary cutaneous gamma-delta T-cell lymphoma
type: Class
subclass of: primary cutaneous T-cell non-Hodgkin lymphoma
IAO_0000115: A primary cutaneous T-cell non-Hodgkin lymphoma that is characterized by the clonal cutaneous proliferation of activated mature gamma-delta T cells with a cytotoxic phenotype.
has db xref: NCI:C45340
has db xref: UMLS_CUI:C1707547
has exact synonym: Primary Cutaneous Gamma-Delta T Cell Lymphomas
has exact synonym: cutaneous gamma/delta T-cell lymphoma
has OBO namespace: disease_ontology
id: DOID:0081050
in subset: NCIthesaurus

Axiom
annotated source: primary cutaneous gamma-delta T-cell lymphoma
annotated property: IAO_0000115
annotated target: A primary cutaneous T-cell non-Hodgkin lymphoma that is characterized by the clonal cutaneous proliferation of activated mature gamma-delta T cells with a cytotoxic phenotype.
has db xref: url:https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC3471805/
has db xref: url:https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC8628721/

BN2 diffuse large B-cell lymphoma
type: Class
subclass of: diffuse large B-cell lymphoma
IAO_0000115: A diffuse large B-cell lymphoma that is categorized as BN2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and BN2 DLBCLs often, but do not always, have a translocation involving the BCL6 locus and/or some combination of mutations affecting NOTCH2, TNFAIP3, BCL10 and UBE2A. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting CD70, which can be coding or non-coding.
has db xref: NCI:C148395
has exact synonym: BN2 DLBCL
has OBO namespace: disease_ontology
id: DOID:0081064
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: BN2 diffuse large B-cell lymphoma
annotated property: IAO_0000115
annotated target: A diffuse large B-cell lymphoma that is categorized as BN2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and BN2 DLBCLs often, but do not always, have a translocation involving the BCL6 locus and/or some combination of mutations affecting NOTCH2, TNFAIP3, BCL10 and UBE2A. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting CD70, which can be coding or non-coding.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/29641966/
has db xref: url:https://www.ncbi.nlm.nih.gov/articles/PMC8459709/

Axiom
annotated source: BN2 diffuse large B-cell lymphoma
annotated property: hasExactSynonym
annotated target: BN2 DLBCL
has synonym type: OMO_0003012

EZB diffuse large B-cell lymphoma
type: Class
subclass of: diffuse large B-cell lymphoma
IAO_0000115: A diffuse large B-cell lymphoma that is categorized as EZB with high probability by the LymphGen algorithm. This is based on a combination of genetic features and EZB DLBCLs often, but do not always, have hot spot mutations in EZH2 and/or a BCL2 translocation. This class can be further subdivided into two sub-classes EZB-MYC+ and EZB-MYC- using the double hit gene expression signature (DHITsig). This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting IRF8, which can be coding or non-coding.
has db xref: NCI:C148398
has exact synonym: EZB DLBCL
has OBO namespace: disease_ontology
id: DOID:0081065
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: EZB diffuse large B-cell lymphoma
annotated property: IAO_0000115
annotated target: A diffuse large B-cell lymphoma that is categorized as EZB with high probability by the LymphGen algorithm. This is based on a combination of genetic features and EZB DLBCLs often, but do not always, have hot spot mutations in EZH2 and/or a BCL2 translocation. This class can be further subdivided into two sub-classes EZB-MYC+ and EZB-MYC- using the double hit gene expression signature (DHITsig). This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting IRF8, which can be coding or non-coding.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/29641966/
has db xref: url:https://www.ncbi.nlm.nih.gov/articles/PMC8459709/

Axiom
annotated source: EZB diffuse large B-cell lymphoma
annotated property: hasExactSynonym
annotated target: EZB DLBCL
has synonym type: OMO_0003012

MCD diffuse large B-cell lymphoma
type: Class
subclass of: diffuse large B-cell lymphoma
IAO_0000115: A diffuse large B-cell lymphoma that is categorized as MCD with high probability by the LymphGen algorithm. This is based on a combination of genetic features and MCD DLBCLs often, but do not always, have the most common hot spot mutation in MYD88 (L265P) and/or activating mutations in CD79B. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting PIM1 and/or ETV6, which can be coding or non-coding.
has db xref: NCI:C148394
has exact synonym: MCD DLBCL
has OBO namespace: disease_ontology
id: DOID:0081066
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: MCD diffuse large B-cell lymphoma
annotated property: IAO_0000115
annotated target: A diffuse large B-cell lymphoma that is categorized as MCD with high probability by the LymphGen algorithm. This is based on a combination of genetic features and MCD DLBCLs often, but do not always, have the most common hot spot mutation in MYD88 (L265P) and/or activating mutations in CD79B. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting PIM1 and/or ETV6, which can be coding or non-coding.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/29641966/
has db xref: url:https://www.ncbi.nlm.nih.gov/articles/PMC8459709/

Axiom
annotated source: MCD diffuse large B-cell lymphoma
annotated property: hasExactSynonym
annotated target: MCD DLBCL
has synonym type: OMO_0003012

N1 diffuse large B-cell lymphoma
type: Class
subclass of: diffuse large B-cell lymphoma
IAO_0000115: A diffuse large B-cell lymphoma that is categorized as N1 with high probability by the LymphGen algorithm. This is based on a combination of genetic features. Although N1 DLBCLs always have an activating mutation affecting NOTCH1, LymphGen can assign cases with this mutation to other classes, depending on the presence of other genetic features.
has db xref: NCI:C148396
has exact synonym: N1 DLBCL
has OBO namespace: disease_ontology
id: DOID:0081067
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: N1 diffuse large B-cell lymphoma
annotated property: IAO_0000115
annotated target: A diffuse large B-cell lymphoma that is categorized as N1 with high probability by the LymphGen algorithm. This is based on a combination of genetic features. Although N1 DLBCLs always have an activating mutation affecting NOTCH1, LymphGen can assign cases with this mutation to other classes, depending on the presence of other genetic features.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/29641966/

Axiom
annotated source: N1 diffuse large B-cell lymphoma
annotated property: hasExactSynonym
annotated target: N1 DLBCL
has synonym type: OMO_0003012

blastic plasmacytoid dendritic cell neoplasm
type: Class
subclass of: acute leukemia
IAO_0000115: An acute leukemia that is derived from the precursors of plasmacytoid dendritic cells, with a high frequency of cutaneous and bone marrow involvement and leukemic dissemination. Skin lesions appearing on the arms, legs, face and neck are the most common BPDCN symptom. Other symptoms include low counts of healthy blood cells and swollen lymph nodes.
has db xref: NCI:C7203
has exact synonym: Agranular CD4+ CD56+ Hematodermic Neoplasm/Tumor
has exact synonym: Agranular CD4+ Natural Killer Cell Leukemia
has exact synonym: Blastic NK-Cell Lymphoma
has exact synonym: Blastic Natural Killer Leukemia/Lymphoma
has exact synonym: CD4+/CD56+ Hematodermic Neoplasm
has exact synonym: natural killer (NK) cell leukemia/lymphoma
has OBO namespace: disease_ontology
id: DOID:0081076
in subset: NCIthesaurus

Axiom
annotated source: blastic plasmacytoid dendritic cell neoplasm
annotated property: IAO_0000115
annotated target: An acute leukemia that is derived from the precursors of plasmacytoid dendritic cells, with a high frequency of cutaneous and bone marrow involvement and leukemic dissemination. Skin lesions appearing on the arms, legs, face and neck are the most common BPDCN symptom. Other symptoms include low counts of healthy blood cells and swollen lymph nodes.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/30350260/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/31972688/
has db xref: url:https://www.lls.org/leukemia/blastic-plasmacytoid-dendritic-cell-neoplasm

acute myeloid leukemia with t(6;9) (p23;q34.1)
type: Class
subclass of: DOID 9119
IAO_0000115: An acute myeloid leukemia associated with t(6;9)(p23;q34), resulting in DEK-NUP214(CAN) fusion protein expression. It is often associated with multilineage dysplasia and basophilia.
has db xref: ICDO:9865/3
has db xref: NCI:C82423
has db xref: SNOMEDCT_US_2023_03_01:450928003
has db xref: UMLS_CUI:C2826169
has exact synonym: Acute Myeloid Leukemia with t(6;9) (p23;q34.1); DEK-NUP214
has exact synonym: DEK-NUP214
has exact synonym: acute myeloid leukemia with t(6;9)(p23;q34)
has OBO namespace: disease_ontology
id: DOID:0081080
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: acute myeloid leukemia with t(6;9) (p23;q34.1)
annotated property: IAO_0000115
annotated target: An acute myeloid leukemia associated with t(6;9)(p23;q34), resulting in DEK-NUP214(CAN) fusion protein expression. It is often associated with multilineage dysplasia and basophilia.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/32526729/

acute promyelocytic leukemia with PML-RARA
type: Class
subclass of: acute promyelocytic leukemia
IAO_0000115: An acute promyelocytic leukemia that is characterized by a severe coagulopathy and the t(15;17)(q24;q21), generating a PML-RARA fusion gene, and where abnormal promyelocytes predominate.
has db xref: ICDO:9866/3
has db xref: NCI:C3182
has exact synonym: acute promyelocytic leukemia, t(15;17)(q22;q11-12)
has OBO namespace: disease_ontology
id: DOID:0081081
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: acute promyelocytic leukemia with PML-RARA
annotated property: IAO_0000115
annotated target: An acute promyelocytic leukemia that is characterized by a severe coagulopathy and the t(15;17)(q24;q21), generating a PML-RARA fusion gene, and where abnormal promyelocytes predominate.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/24720386/

acute myelomonocytic leukemia
type: Class
subclass of: DOID 9119
IAO_0000115: An acute myeloid leukemia that is characterized by the proliferation of both neutrophil and monocyte precursors.
has db xref: ICD10CM:C92.5
has db xref: ICDO:9867/3
has db xref: MESH:D015479
has db xref: NCI:C7463
has db xref: SNOMEDCT_US_2023_03_01:30962008
has db xref: UMLS_CUI:C0023479
has OBO namespace: disease_ontology
id: DOID:0081082
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: acute myelomonocytic leukemia
annotated property: IAO_0000115
annotated target: An acute myeloid leukemia that is characterized by the proliferation of both neutrophil and monocyte precursors.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/31915926/

acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2)
type: Class
subclass of: DOID 9119
IAO_0000115: An acute myeloid leukemia associated with inv(3)(q21q26.2) or t(3;3)(q21;q26.2), resulting in the expression of RPN1-EVI1 fusion protein and the reposition of a distal GATA2 enhancer to activate MECOM expression.
has db xref: ICDO:9869/3
has db xref: NCI:C82426
has db xref: SNOMEDCT_US_2023_03_01:780844005
has db xref: UMLS_CUI:C2826172
has exact synonym: Acute Myeloid Leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2); GATA2, MECOM
has exact synonym: Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2); RPN1-EVI1
has OBO namespace: disease_ontology
id: DOID:0081083
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2)
annotated property: IAO_0000115
annotated target: An acute myeloid leukemia associated with inv(3)(q21q26.2) or t(3;3)(q21;q26.2), resulting in the expression of RPN1-EVI1 fusion protein and the reposition of a distal GATA2 enhancer to activate MECOM expression.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/31711889/

acute myeloid leukemia with minimal differentiation
type: Class
subclass of: DOID 9119
IAO_0000115: An acute myeloid leukemia in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry.
has db xref: ICD10CM:C92.0
has db xref: ICDO:9872/3
has db xref: NCI:C8460
has db xref: SNOMEDCT_US_2023_03_01:103689001
has db xref: UMLS_CUI:C0522631
has exact synonym: AML-M0
has exact synonym: Acute myeloid leukemia, minimal differentiation
has OBO namespace: disease_ontology
id: DOID:0081085
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: acute myeloid leukemia with minimal differentiation
annotated property: IAO_0000115
annotated target: An acute myeloid leukemia in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/12110349/

Axiom
annotated source: acute myeloid leukemia with minimal differentiation
annotated property: hasExactSynonym
annotated target: AML-M0
has synonym type: OMO_0003012

acute myeloid leukemia without maturation
type: Class
subclass of: DOID 9119
IAO_0000115: An acute myeloid leukemia that is characterized by blasts without evidence of significant maturation in the neutrophilic lineage.
has db xref: GARD:526
has db xref: ICD10CM:C92.0
has db xref: ICDO:9873/3
has db xref: MESH:D015470
has db xref: NCI:C3249
has db xref: ORDO:98833
has db xref: SNOMEDCT_US_2023_03_01:103690005
has db xref: UMLS_CUI:C0026998
has OBO namespace: disease_ontology
id: DOID:0081086
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: acute myeloid leukemia without maturation
annotated property: IAO_0000115
annotated target: An acute myeloid leukemia that is characterized by blasts without evidence of significant maturation in the neutrophilic lineage.
has db xref: url:https://wiki.clinicalflow.com/aml-acute-myelogenous-leukemia-without-maturation-m1

acute myeloid leukemia with maturation
type: Class
subclass of: DOID 9119
IAO_0000115: An acute myeloid leukemia characterized by blasts with evidence of significant maturation in the neutrophilic lineage.
has db xref: ICD10CM:C92.0
has db xref: ICDO:9874/3
has db xref: MESH:D015470
has db xref: NCI:C3250
has db xref: SNOMEDCT_US_2023_03_01:103691009
has db xref: UMLS_CUI:C1879321
has OBO namespace: disease_ontology
id: DOID:0081087
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: acute myeloid leukemia with maturation
annotated property: IAO_0000115
annotated target: An acute myeloid leukemia characterized by blasts with evidence of significant maturation in the neutrophilic lineage.
has db xref: url:https://en.wikipedia.org/wiki/Acute_myeloblastic_leukemia_with_maturation

acute myeloid leukemia with mutated NPM1
type: Class
subclass of: DOID 9119
IAO_0000115: An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features.
has db xref: ICDO:9877/3
has db xref: NCI:C82431
has db xref: SNOMEDCT_US_2023_03_01:703820005
has db xref: UMLS_CUI:C2826177
has OBO namespace: disease_ontology
id: DOID:0081089
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: acute myeloid leukemia with mutated NPM1
annotated property: IAO_0000115
annotated target: An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/32609823/

acute myeloid leukemia with biallelic mutation of CEBPA
type: Class
subclass of: DOID 9119
IAO_0000115: An acute myeloid leukemia with double mutations of the CEBPA gene.
has db xref: ICDO:9878/3
has db xref: NCI:C129782
has OBO namespace: disease_ontology
id: DOID:0081090
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: acute myeloid leukemia with biallelic mutation of CEBPA
annotated property: IAO_0000115
annotated target: An acute myeloid leukemia with double mutations of the CEBPA gene.
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5394975/

acute myeloid leukemia with mutated RUNX1
type: Class
subclass of: DOID 9119
IAO_0000115: An acute myeloid leukemia that is characterized by de novo RUNX1 gene mutation, not associated with myelodysplastic syndrome-related cytogenetic abnormalities.
has db xref: ICDO:9879/3
has db xref: NCI:C129786
has OBO namespace: disease_ontology
id: DOID:0081091
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: acute myeloid leukemia with mutated RUNX1
annotated property: IAO_0000115
annotated target: An acute myeloid leukemia that is characterized by de novo RUNX1 gene mutation, not associated with myelodysplastic syndrome-related cytogenetic abnormalities.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/32871587/

acute myeloid leukemia with myelodysplasia-related changes
type: Class
subclass of: DOID 9119
IAO_0000115: An acute myeloid leukemia with at least 20% blasts in the bone marrow or blood and one of the following: a previous history of myelodysplastic syndrome; multilineage dysplasia; or myelodysplastic syndrome-related cytogenetic abnormalities.
has db xref: ICDO:9895/3
has db xref: NCI:C7600
has db xref: SNOMEDCT_US_2023_03_01:128827005
has db xref: UMLS_CUI:C2825139
has OBO namespace: disease_ontology
id: DOID:0081092
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: acute myeloid leukemia with myelodysplasia-related changes
annotated property: IAO_0000115
annotated target: An acute myeloid leukemia with at least 20% blasts in the bone marrow or blood and one of the following: a previous history of myelodysplastic syndrome; multilineage dysplasia; or myelodysplastic syndrome-related cytogenetic abnormalities.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/32864703/

acute myeloid leukemia with t(8;21); (q22; q22.1)
type: Class
subclass of: DOID 9119
IAO_0000115: An acute myeloid leukemia associated with t(8;21)(q22;q22) resulting in RUNX1-RUNX1T1 fusion protein expression. The bone marrow and the peripheral blood show large myeloblasts with abundant basophilic cytoplasm, often containing azurophilic granules.
has db xref: ICDO:9896/3
has db xref: NCI:C9288
has db xref: UMLS_CUI:C1292774
has db xref: UMLS_CUI:C2347540
has db xref: UMLS_CUI:C5707782
has exact synonym: Acute Myeloid Leukemia with t(8;21); (q22; q22.1); RUNX1-RUNX1T1
has exact synonym: acute myeloid leukemia, t(8;21)(q22;q22)
has OBO namespace: disease_ontology
id: DOID:0081093
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: acute myeloid leukemia with t(8;21); (q22; q22.1)
annotated property: IAO_0000115
annotated target: An acute myeloid leukemia associated with t(8;21)(q22;q22) resulting in RUNX1-RUNX1T1 fusion protein expression. The bone marrow and the peripheral blood show large myeloblasts with abundant basophilic cytoplasm, often containing azurophilic granules.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/31004601/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/35502592/

acute myeloid leukemia with MLL rearrangement
type: Class
subclass of: DOID 9119
IAO_0000115: An acute myeloid leukemia characterized by rearrangement of the MLL (mixed-lineage leukemia) gene.
has db xref: ICDO:9897/3
has db xref: NCI:C174129
has exact synonym: Acute Myeloid Leukemia with KMT2A/MLL Rearrangement
has exact synonym: acute myeloid leukemia, 11q23 abnormalities
has OBO namespace: disease_ontology
id: DOID:0081094
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: acute myeloid leukemia with MLL rearrangement
annotated property: IAO_0000115
annotated target: An acute myeloid leukemia characterized by rearrangement of the MLL (mixed-lineage leukemia) gene.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/34964255/

acute myeloid leukemia with mutated CEBPA
type: Class
subclass of: DOID 9119
IAO_0000115: An acute myeloid leukemia with non-germline mutations of the CEBPA gene.
has db xref: ICDO:9861/3
has db xref: NCI:C82433
has OBO namespace: disease_ontology
id: DOID:0081095
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: acute myeloid leukemia with mutated CEBPA
annotated property: IAO_0000115
annotated target: An acute myeloid leukemia with non-germline mutations of the CEBPA gene.
has db xref: url:https://medlineplus.gov/genetics/condition/familial-acute-myeloid-leukemia-with-mutated-cebpa/

acute myeloid leukemia with t(1;22)(p13;q13)
type: Class
subclass of: DOID 9119
IAO_0000115: An acute myeloid leukemia typically showing megakaryocytic maturation and associated with t(1;22)(p13;q13), resulting in the expression of RBM15-MKL1 fusion protein.
has db xref: ICDO:9911/3
has db xref: NCI:C82427
has exact synonym: Acute Myeloid Leukemia (Megakaryoblastic) with t(1;22)(p13.3;q13.1); RBM15-MKL1
has OBO namespace: disease_ontology
id: DOID:0081096
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: acute myeloid leukemia with t(1;22)(p13;q13)
annotated property: IAO_0000115
annotated target: An acute myeloid leukemia typically showing megakaryocytic maturation and associated with t(1;22)(p13;q13), resulting in the expression of RBM15-MKL1 fusion protein.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/22469944/

pituitary blastoma
type: Class
subclass of: cancer
subclass of: pituitary cancer
IAO_0000115: A pituitary cancer that is characterized by features of Cushing disease, with elevated blood ACTH levels and hypercortisolism arising within the fetal anterior pituitary and associated with DICER1 mutations.
has db xref: ICDO:8273/3
has db xref: NCI:C155304
has exact synonym: Pituitary Gland Blastoma
has OBO namespace: disease_ontology
id: DOID:0081244
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: pituitary blastoma
annotated property: IAO_0000115
annotated target: A pituitary cancer that is characterized by features of Cushing disease, with elevated blood ACTH levels and hypercortisolism arising within the fetal anterior pituitary and associated with DICER1 mutations.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/35291028/

cauda equina neuroendocrine tumor
type: Class
subclass of: DOID 4847
IAO_0000115: A cauda equina neoplasm that is a slow-growing, well-differentiated neuroendocrine tumor arising from the cauda equina.
has db xref: ICDO:8693/3
has db xref: NCI:C5324
has exact synonym: Cauda equina neuroendocrine tumour
has exact synonym: Spinal neuroendocrine tumors
has OBO namespace: disease_ontology
id: DOID:0081245
in subset: DO cancer slim
in subset: NCIthesaurus
comment: Previously known as spinal paragangliomas.

Axiom
annotated source: cauda equina neuroendocrine tumor
annotated property: IAO_0000115
annotated target: A cauda equina neoplasm that is a slow-growing, well-differentiated neuroendocrine tumor arising from the cauda equina.
has db xref: url:https://radiopaedia.org/articles/spinal-neuroendocrine-tumour?lang=us

teratoma with somatic-type malignancy
type: Class
subclass of: teratoma
IAO_0000115: A teratoma that is characterized by morphologic transformation to malignancy and an aggressive clinical course.
has db xref: ICDO:9084/3
has db xref: NCI:C4289
has OBO namespace: disease_ontology
id: DOID:0081246
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: teratoma with somatic-type malignancy
annotated property: IAO_0000115
annotated target: A teratoma that is characterized by morphologic transformation to malignancy and an aggressive clinical course.
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6874974/

dedifferentiated chondrosarcoma
type: Class
subclass of: chondrosarcoma
IAO_0000115: A chondrosarcoma that is an aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component.
has db xref: ICDO:9243/3
has db xref: NCI:C6476
has OBO namespace: disease_ontology
id: DOID:0081247
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: dedifferentiated chondrosarcoma
annotated property: IAO_0000115
annotated target: A chondrosarcoma that is an aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/34734747/

pineocytoma
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: An endocrine organ benign neoplasm arising from the pineal gland that is composed of small, uniform, mature cells resembling pineocytes with occasional large pineocytomatous rosettes. It may show a wide range of divergent phenotypes, including neuronal, glial, melanocytic, photoreceptor and mesenchymal differentiation.
has db xref: ICDO:9361/1
has db xref: NCI:C6966
has exact synonym: Pinealocytoma
has exact synonym: Pinealoma
has OBO namespace: disease_ontology
id: DOID:0081248
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: pineocytoma
annotated property: IAO_0000115
annotated target: An endocrine organ benign neoplasm arising from the pineal gland that is composed of small, uniform, mature cells resembling pineocytes with occasional large pineocytomatous rosettes. It may show a wide range of divergent phenotypes, including neuronal, glial, melanocytic, photoreceptor and mesenchymal differentiation.
has db xref: url:https://rarediseases.org/gard-rare-disease/pineocytoma/

EWSR1-negative small round cell tumor
type: Class
subclass of: small cell sarcoma
IAO_0000115: A small cell sarcoma that is characterized by the absence of EWSR1 rearrangement and the presence of small round malignant cells with a small amount of cytoplasm.
has db xref: NCI:C165671
has exact synonym: EWSR1-Negative Small Blue Round Cell Tumor
has OBO namespace: disease_ontology
id: DOID:0081249
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: EWSR1-negative small round cell tumor
annotated property: IAO_0000115
annotated target: A small cell sarcoma that is characterized by the absence of EWSR1 rearrangement and the presence of small round malignant cells with a small amount of cytoplasm.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/28346326/

CIC-rearranged sarcoma
type: Class
subclass of: EWSR1-negative small round cell tumor
IAO_0000115: An EWSERI-negative small round cell tumor that is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions.
has db xref: ICDO:9367/3
has db xref: NCI:C120224
has exact synonym: Capicua transcriptional repressor (CIC)-rearranged sarcoma
has OBO namespace: disease_ontology
id: DOID:0081250
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: CIC-rearranged sarcoma
annotated property: IAO_0000115
annotated target: An EWSERI-negative small round cell tumor that is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/31288305/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/32796172/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/33680459/

papillary tumor of the pineal region
type: Class
subclass of: DOID 5032
IAO_0000115: A pineal gland cancer that is characterized by the presence of neuroepithelial cells and a papillary architecture.
has db xref: ICDO:9395/3
has db xref: NCI:C92624
has exact synonym: Papillary tumour of the pineal region
has OBO namespace: disease_ontology
id: DOID:0081251
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: papillary tumor of the pineal region
annotated property: IAO_0000115
annotated target: A pineal gland cancer that is characterized by the presence of neuroepithelial cells and a papillary architecture.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/29691144/

supratentorial ependymoma, ZFTA fusion–positive
type: Class
subclass of: DOID 5074
IAO_0000115: A suptratentorial ependymoma that is characterized by the presence of a fusion gene involving ZFTA gene.
has db xref: ICDO:9396/3
has db xref: NCI:C186350
has OBO namespace: disease_ontology
id: DOID:0081252
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: supratentorial ependymoma, ZFTA fusion–positive
annotated property: IAO_0000115
annotated target: A suptratentorial ependymoma that is characterized by the presence of a fusion gene involving ZFTA gene.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/33879448/

supratentorial ependymoma, YAP1 fusion–positive
type: Class
subclass of: DOID 5074
IAO_0000115: A supratentorial ependymoma that is characterized by the presence of a fusion gene involving YAP1 gene.
has db xref: ICDO:9396/3
has db xref: NCI:C186351
has OBO namespace: disease_ontology
id: DOID:0081253
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: supratentorial ependymoma, YAP1 fusion–positive
annotated property: IAO_0000115
annotated target: A supratentorial ependymoma that is characterized by the presence of a fusion gene involving YAP1 gene.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/33879448/

posterior fossa group A ependymoma
type: Class
subclass of: DOID 5074
IAO_0000115: A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns, including CpG island hypermethylation, global DNA hypomethylation, reduction of nuclear H3 p.K28me3 (K27me3) expression, and EZHIP overexpression.
has db xref: ICDO:9396/3
has db xref: NCI:C186450
has exact synonym: Posterior Fossa Ependymoma, Group A (PFA)
has exact synonym: Posterior fossa group A (PFA) ependymoma
has OBO namespace: disease_ontology
id: DOID:0081254
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: posterior fossa group A ependymoma
annotated property: IAO_0000115
annotated target: A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns, including CpG island hypermethylation, global DNA hypomethylation, reduction of nuclear H3 p.K28me3 (K27me3) expression, and EZHIP overexpression.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/29909548/

posterior fossa group B ependymoma
type: Class
subclass of: DOID 5074
IAO_0000115: A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns including retention of nuclear H3 p.K28me3 (K27me3) expression, absence of CpG island hypermethylation, absence of global DNA hypomethylation, and absence of EZHIP overexpression.
has db xref: ICDO:9396/3
has db xref: NCI:C186451
has exact synonym: Posterior Fossa Ependymoma, Group B (PFB)
has exact synonym: Posterior fossa group B (PFB) ependymoma
has OBO namespace: disease_ontology
id: DOID:0081255
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: posterior fossa group B ependymoma
annotated property: IAO_0000115
annotated target: A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns including retention of nuclear H3 p.K28me3 (K27me3) expression, absence of CpG island hypermethylation, absence of global DNA hypomethylation, and absence of EZHIP overexpression.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/33902636/

astrocytoma, IDH-mutant, grade 2
type: Class
subclass of: IDH-mutant anaplastic astrocytoma
IAO_0000115: An IDH-mutant anaplastic astrocytoma that is characterized by the presence of well-differentiated fibrillary glial cells diffusely infiltrating the central nervous system.
has db xref: ICDO:9400/3
has db xref: NCI:C129271
has OBO namespace: disease_ontology
id: DOID:0081256
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: astrocytoma, IDH-mutant, grade 2
annotated property: IAO_0000115
annotated target: An IDH-mutant anaplastic astrocytoma that is characterized by the presence of well-differentiated fibrillary glial cells diffusely infiltrating the central nervous system.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/35902341/

astrocytoma, IDH-mutant, grade 3
type: Class
subclass of: IDH-mutant anaplastic astrocytoma
IAO_0000115: An IDH-mutant anaplastic astrocytoma that is characterized by the presence of increased mitotic activity and anaplastic features.
has db xref: ICDO:9401/3
has db xref: NCI:C129290
has OBO namespace: disease_ontology
id: DOID:0081257
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: astrocytoma, IDH-mutant, grade 3
annotated property: IAO_0000115
annotated target: An IDH-mutant anaplastic astrocytoma that is characterized by the presence of increased mitotic activity and anaplastic features.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/34377594/

desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma
type: Class
subclass of: DOID 5078
IAO_0000115: A ganglioglioma occurring predominantly in the cerebral hemispheres of infants, that are driven by MAPK pathway activation and composed of a mixed astrocytic and neuronal component (DIG) or an astrocytic component only (DIA) embedded in an extensive desmoplastic stroma, often containing foci of undifferentiated embryonal-like tumour cells.
has db xref: ICDO:9412/1
has db xref: NCI:C4738
has db xref: NCI:C9476
has exact synonym: Desmoplastic Infantile Astrocytoma
has exact synonym: desmoplastic infantile ganglioglioma
has exact synonym: desmoplastic infantile ganglioglioma and desmoplastic infantile astrocytoma
has OBO namespace: disease_ontology
id: DOID:0081259
in subset: DO cancer slim
in subset: DO childhood cancer slim
in subset: NCIthesaurus
comment: WHO combines desmophlastic infantile ganglioglioma and desmoplastic infantile astrocytoma.

Axiom
annotated source: desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma
annotated property: IAO_0000115
annotated target: A ganglioglioma occurring predominantly in the cerebral hemispheres of infants, that are driven by MAPK pathway activation and composed of a mixed astrocytic and neuronal component (DIG) or an astrocytic component only (DIA) embedded in an extensive desmoplastic stroma, often containing foci of undifferentiated embryonal-like tumour cells.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/31223403/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/35015431/

diffuse low-grade glioma, MAPK pathway–altered
type: Class
subclass of: low grade glioma
IAO_0000115: A low grade glioma that is characterized by a gene alteration that results in a MAPK pathway abnormality, with morphological features of astrocytoma or oligodendroglioma.
has db xref: ICDO:9421/1
has db xref: NCI:C185218
has OBO namespace: disease_ontology
id: DOID:0081260
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: diffuse low-grade glioma, MAPK pathway–altered
annotated property: IAO_0000115
annotated target: A low grade glioma that is characterized by a gene alteration that results in a MAPK pathway abnormality, with morphological features of astrocytoma or oligodendroglioma.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/35562133/

angiocentric glioma
type: Class
subclass of: low grade glioma
IAO_0000115: A low grade glioma that is characterized by an angiocentric pattern, monomorphic cellular infiltrate, and ependymal differentiation.
has db xref: ICDO:9431/1
has db xref: NCI:C92552
has OBO namespace: disease_ontology
id: DOID:0081261
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: angiocentric glioma
annotated property: IAO_0000115
annotated target: A low grade glioma that is characterized by an angiocentric pattern, monomorphic cellular infiltrate, and ependymal differentiation.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/34863434/

diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
type: Class
subclass of: high grade glioma
IAO_0000115: A high grade glioma that is characterized by the absence of histone H3, IDH1, and IDH2 mutations.
has db xref: ICDO:9385/3
has db xref: NCI:C185467
has db xref: UMLS_CUI:C5669918
has exact synonym: diffuse paediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
has OBO namespace: disease_ontology
id: DOID:0081277
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
annotated property: IAO_0000115
annotated target: A high grade glioma that is characterized by the absence of histone H3, IDH1, and IDH2 mutations.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/34858308/

infant-type hemispheric glioma
type: Class
subclass of: malignant astrocytoma
IAO_0000115: A malignant astrocytoma that is characterized by receptor tyrosine kinase fusions in the NTRK family, ROS1, ALK, or MET genes, that arises in the cerebral hemisphere and occurs in early childhood.
has db xref: ICDO:9385/3
has db xref: NCI:C185471
has OBO namespace: disease_ontology
id: DOID:0081278
in subset: DO childhood cancer slim
in subset: NCIthesaurus

Axiom
annotated source: infant-type hemispheric glioma
annotated property: IAO_0000115
annotated target: A malignant astrocytoma that is characterized by receptor tyrosine kinase fusions in the NTRK family, ROS1, ALK, or MET genes, that arises in the cerebral hemisphere and occurs in early childhood.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/35404193/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/36315913/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/36316040/

diffuse astrocytoma, MYB- or MYBL1-altered
type: Class
subclass of: DOID 4857
IAO_0000115: A diffuse astrocytoma that is a diffusely infiltrative astroglial neoplasm composed of monomorphic cells with genetic alterations in MYB or MYBL1.
has db xref: ICDO:9421/1
has db xref: NCI:C185196
has db xref: UMLS_CUI:C5575348
has db xref: UMLS_CUI:C5575349
has OBO namespace: disease_ontology
id: DOID:0081279
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: diffuse astrocytoma, MYB- or MYBL1-altered
annotated property: IAO_0000115
annotated target: A diffuse astrocytoma that is a diffusely infiltrative astroglial neoplasm composed of monomorphic cells with genetic alterations in MYB or MYBL1.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/35015431/

pituicytoma
type: Class
subclass of: DOID 5048
IAO_0000115: A posterior pituitary gland neoplasm that is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements.
has db xref: ICDO:9432/1
has db xref: NCI:C94524
has OBO namespace: disease_ontology
id: DOID:0081280
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: pituicytoma
annotated property: IAO_0000115
annotated target: A posterior pituitary gland neoplasm that is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements.
has db xref: url:https://en.wikipedia.org/wiki/Pituicytoma
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/36057248/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/36180358/

papillary glioneuronal tumor
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A central nervous system benign neoplasm that is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae.
has db xref: ICDO:9509/1
has db xref: NCI:C92554
has exact synonym: Papillary glioneuronal tumour
has OBO namespace: disease_ontology
id: DOID:0081283
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: papillary glioneuronal tumor
annotated property: IAO_0000115
annotated target: A central nervous system benign neoplasm that is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/35854961/

rosette-forming glioneuronal tumor
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A central nervous system benign neoplasm that is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers.
has db xref: ICDO:9509/1
has db xref: NCI:C129431
has exact synonym: RGNT
has exact synonym: Rosette-forming glioneuronal tumour
has OBO namespace: disease_ontology
id: DOID:0081284
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: rosette-forming glioneuronal tumor
annotated property: IAO_0000115
annotated target: A central nervous system benign neoplasm that is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/36230557/

Axiom
annotated source: rosette-forming glioneuronal tumor
annotated property: hasExactSynonym
annotated target: RGNT
has synonym type: OMO_0003012

myxoid glioneuronal tumor
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A central nervous system benign neoplasm that is characterized by a dinucleotide mutation at codon 385 of the PDGFR gene. It usually occurs in the septum pellucidum but has also been described in the corpus callosum and periventricular white matter of the lateral ventricle. It is composed of oligodendrocyte-like cells in a prominent myxoid stroma.
has db xref: ICDO:9509/1
has db xref: NCI:C179229
has exact synonym: Myxoid glioneuronal tumour
has OBO namespace: disease_ontology
id: DOID:0081285
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: myxoid glioneuronal tumor
annotated property: IAO_0000115
annotated target: A central nervous system benign neoplasm that is characterized by a dinucleotide mutation at codon 385 of the PDGFR gene. It usually occurs in the septum pellucidum but has also been described in the corpus callosum and periventricular white matter of the lateral ventricle. It is composed of oligodendrocyte-like cells in a prominent myxoid stroma.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/34297434/

embryonal tumor with multilayered rosettes
type: Class
subclass of: central nervous system embryonal tumor
IAO_0000115: A central nervous system embryonal tumor that is characterized by the presence of multilayered rosette formation and typically the presence of amplification of the C19MC region on chromosome 19 (19q13.42) or rarely a DICER1 mutation.
has db xref: ICDO:9478/3
has db xref: NCI:C186534
has exact synonym: Embryonal tumour with multilayered rosettes
has OBO namespace: disease_ontology
id: DOID:0081286
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: embryonal tumor with multilayered rosettes
annotated property: IAO_0000115
annotated target: A central nervous system embryonal tumor that is characterized by the presence of multilayered rosette formation and typically the presence of amplification of the C19MC region on chromosome 19 (19q13.42) or rarely a DICER1 mutation.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/36451902/

salivary gland mucoepidermoid carcinoma
type: Class
subclass of: DOID 4531
IAO_0000115: A mucoepidermoid carcinoma located_in the salivary gland.
has db xref: NCI:C5908
has OBO namespace: disease_ontology
id: DOID:0081293
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: salivary gland mucoepidermoid carcinoma
annotated property: IAO_0000115
annotated target: A mucoepidermoid carcinoma located_in the salivary gland.
has db xref: url:https://www.pathologyoutlines.com/topic/salivaryglandsMEC.html

diffuse leptomeningeal glioneuronal tumor
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A central nervous system benign neoplasm that is characterized by the presence of clear glial neoplastic cells reminiscent of oligodendroglioma.
has db xref: ICDO:9509/3
has db xref: NCI:C129424
has exact synonym: Diffuse leptomeningeal glioneuronal tumour
has OBO namespace: disease_ontology
id: DOID:0081302
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: diffuse leptomeningeal glioneuronal tumor
annotated property: IAO_0000115
annotated target: A central nervous system benign neoplasm that is characterized by the presence of clear glial neoplastic cells reminiscent of oligodendroglioma.
has db xref: url:https://radiopaedia.org/articles/diffuse-leptomeningeal-glioneuronal-tumour?lang=us

multinodular and vacuolating neuronal tumor
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A central nervous system benign neoplasm that is composed of cells with glial and/or neuronal differentiation forming multiple nodules with prominent vacuolation and that affecting the cerebral hemispheres.
has db xref: ICDO:9509/0
has db xref: NCI:C129427
has OBO namespace: disease_ontology
id: DOID:0081303
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: multinodular and vacuolating neuronal tumor
annotated property: IAO_0000115
annotated target: A central nervous system benign neoplasm that is composed of cells with glial and/or neuronal differentiation forming multiple nodules with prominent vacuolation and that affecting the cerebral hemispheres.
has db xref: url:https://radiopaedia.org/articles/multinodular-and-vacuolating-neuronal-tumour-1?lang=us

high-grade astrocytoma with piloid features
type: Class
subclass of: anaplastic astrocytoma
IAO_0000115: An anaplastic astrocytoma that is characterized by high-grade piloid and/or glioblastoma-like histological features. It may occur anywhere in the central nervous system but most often arises in the posterior fossa.
has db xref: ICDO:9421/3
has db xref: NCI:C185879
has OBO namespace: disease_ontology
id: DOID:0081304
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: high-grade astrocytoma with piloid features
annotated property: IAO_0000115
annotated target: An anaplastic astrocytoma that is characterized by high-grade piloid and/or glioblastoma-like histological features. It may occur anywhere in the central nervous system but most often arises in the posterior fossa.
has db xref: url:https://radiopaedia.org/articles/high-grade-astrocytoma-with-piloid-features-1?lang=us
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8131327/

polymorphous low grade neuroepithelial tumour of the young
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A central nervous system benign neoplasm that is characterized by the presence of oligodendroglioma-like components, may also contain astrocytic components and is associated with seizures and in many cases refractory epilepsy.
has db xref: ICDO:9413/0
has db xref: NCI:C180378
has db xref: UMLS_CUI:C5556330
has exact synonym: Massively Calcified Low Grade Glioma
has exact synonym: Polymorphous low-grade neuroepithelial tumour of the young
has OBO namespace: disease_ontology
id: DOID:0081305
in subset: NCIthesaurus

Axiom
annotated source: polymorphous low grade neuroepithelial tumour of the young
annotated property: IAO_0000115
annotated target: A central nervous system benign neoplasm that is characterized by the presence of oligodendroglioma-like components, may also contain astrocytic components and is associated with seizures and in many cases refractory epilepsy.
has db xref: url:https://journals.sagepub.com/doi/full/10.1177/20363613221083360

spindle cell oncocytoma
type: Class
subclass of: DOID 5048
IAO_0000115: A posterior pituitary benign neoplasm that is characterized by the presence of spindle cells with eosinophilic, granular cytoplasm forming fascicles.
has db xref: ICDO:8290/0
has db xref: NCI:C94537
has OBO namespace: disease_ontology
id: DOID:0081306
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: spindle cell oncocytoma
annotated property: IAO_0000115
annotated target: A posterior pituitary benign neoplasm that is characterized by the presence of spindle cells with eosinophilic, granular cytoplasm forming fascicles.
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6486883/

lymphomatoid granulomatosis
type: Class
subclass of: DOID 612
IAO_0000115: A lymphoproliferative syndrome that is characterized by overproduction (proliferation) of white blood cells called lymphocytes. The abnormal cells infiltrate and accumulate (form lesions or nodules) within tissues. The lesions or nodules damage or destroy the blood vessels within these tissues.
has db xref: ICD10CM:C83.8
has db xref: ICDO:9766/1
has db xref: MESH:D008230
has db xref: NCI:C7930
has db xref: SNOMEDCT_US_2023_03_01:60337005
has db xref: UMLS_CUI:C0024307
has OBO namespace: disease_ontology
id: DOID:0081307
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: lymphomatoid granulomatosis
annotated property: IAO_0000115
annotated target: A lymphoproliferative syndrome that is characterized by overproduction (proliferation) of white blood cells called lymphocytes. The abnormal cells infiltrate and accumulate (form lesions or nodules) within tissues. The lesions or nodules damage or destroy the blood vessels within these tissues.
has db xref: url:https://rarediseases.org/rare-diseases/lymphomatoid-granulomatosis/

grade I lymphomatoid granulomatosis
type: Class
subclass of: lymphomatoid granulomatosis
IAO_0000115: A lymphomatoid granulomatosis that is characterized by the presence of a polymorphous lymphoid infiltrate without cytologic atypia. Large lymphocytes are absent or rare. By in situ hybridization, EBV-positive cells are infrequently seen.
has db xref: ICDO:9766/1
has db xref: NCI:C7931
has db xref: UMLS_CUI:C0279065
has OBO namespace: disease_ontology
id: DOID:0081308
in subset: NCIthesaurus

Axiom
annotated source: grade I lymphomatoid granulomatosis
annotated property: IAO_0000115
annotated target: A lymphomatoid granulomatosis that is characterized by the presence of a polymorphous lymphoid infiltrate without cytologic atypia. Large lymphocytes are absent or rare. By in situ hybridization, EBV-positive cells are infrequently seen.
has db xref: url:https://rarediseases.org/rare-diseases/lymphomatoid-granulomatosis/?filter=ovr-ds-resources

intravascular large B-cell lymphoma
type: Class
subclass of: DOID 707
IAO_0000115: A large B-cell lymphoma that is characterized by the presence of lymphoma cells exclusively in the lumina of small vessels, particularly capillaries.
has db xref: ICDO:9712/3
has db xref: NCI:C4342
has OBO namespace: disease_ontology
id: DOID:0081311
in subset: NCIthesaurus

Axiom
annotated source: intravascular large B-cell lymphoma
annotated property: IAO_0000115
annotated target: A large B-cell lymphoma that is characterized by the presence of lymphoma cells exclusively in the lumina of small vessels, particularly capillaries.
has db xref: url:https://ashpublications.org/blood/article/132/15/1561/39314/Intravascular-large-B-cell-lymphoma-a-chameleon

T-cell non-Hodgkin lymphoma
type: Class
subclass of: non-Hodgkin lymphoma
IAO_0000115: A non-Hodgkin lymphoma of T-cell lineage.
has db xref: ICDO:9702/3
has db xref: MESH:D016399
has db xref: NCI:C3466
has db xref: SNOMEDCT_US_2023_03_01:3172003
has db xref: UMLS_CUI:C0079772
has OBO namespace: disease_ontology
id: DOID:0081312
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: T-cell non-Hodgkin lymphoma
annotated property: IAO_0000115
annotated target: A non-Hodgkin lymphoma of T-cell lineage.
has db xref: url:https://www.cancer.org/cancer/non-hodgkin-lymphoma/treating/t-cell-lymphoma.html

primary diffuse large B-cell lymphoma of the central nervous system
type: Class
subclass of: diffuse large B-cell lymphoma
IAO_0000115: A diffuse large B-cell lymphoma arising from the central nervous system.
has db xref: ICDO:9680/3
has db xref: NCI:C71720
has db xref: SNOMEDCT_US_2023_03_01:734066005
has db xref: UMLS_CUI:C2026186
has OBO namespace: disease_ontology
id: DOID:0081313
in subset: NCIthesaurus

Axiom
annotated source: primary diffuse large B-cell lymphoma of the central nervous system
annotated property: IAO_0000115
annotated target: A diffuse large B-cell lymphoma arising from the central nervous system.
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4840863/

extraventricular neurocytoma
type: Class
subclass of: cerebral ventricle cancer
IAO_0000115: A cerebral ventricle cancer that is characterized by the presence of neoplastic uniform, round cells with neuronal differentiation, that arises from the brain parenchyma. Unlike central neurocytoma, it does not involve the lateral ventricles.
has db xref: ICDO:9506/1
has db xref: NCI:C92555
has OBO namespace: disease_ontology
id: DOID:0081314
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: extraventricular neurocytoma
annotated property: IAO_0000115
annotated target: A cerebral ventricle cancer that is characterized by the presence of neoplastic uniform, round cells with neuronal differentiation, that arises from the brain parenchyma. Unlike central neurocytoma, it does not involve the lateral ventricles.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/24357019/

central nervous system tumor with BCOR internal tandem duplication
type: Class
subclass of: central nervous system embryonal tumor
IAO_0000115: A central nervous system embryonal tumor that is characterized by the presence of uniform oval or spindle-shaped cells with round or oval nuclei, pseudorosette formation, and heterozygous internal tandem duplication in exon 15 of the BCOR gene.
has db xref: ICDO:9500/3
has db xref: NCI:C186556
has db xref: UMLS_CUI:C5670630
has exact synonym: CNS tumour with BCOR internal tandem duplication
has OBO namespace: disease_ontology
id: DOID:0081315
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: central nervous system tumor with BCOR internal tandem duplication
annotated property: IAO_0000115
annotated target: A central nervous system embryonal tumor that is characterized by the presence of uniform oval or spindle-shaped cells with round or oval nuclei, pseudorosette formation, and heterozygous internal tandem duplication in exon 15 of the BCOR gene.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/35809497/

primary intracranial sarcoma, DICER1-mutant
type: Class
subclass of: brain sarcoma
IAO_0000115: A brain sarcoma that is composed of malignant pleomorphic or spindle neoplastic cells typically demonstrating myogenic and/or chondroid differentiation. Cytoplasmic eosinophilic globules and myxoid stroma formation are usually present. It is associated with mutations in the DICER1 gene.
has db xref: ICDO:9480/3
has db xref: NCI:C186610
has OBO namespace: disease_ontology
id: DOID:0081316
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: primary intracranial sarcoma, DICER1-mutant
annotated property: IAO_0000115
annotated target: A brain sarcoma that is composed of malignant pleomorphic or spindle neoplastic cells typically demonstrating myogenic and/or chondroid differentiation. Cytoplasmic eosinophilic globules and myxoid stroma formation are usually present. It is associated with mutations in the DICER1 gene.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/35789272/

glycogen storage disease I
type: Class
subclass of: glycogen storage disease
IAO_0000115: A glycogen storage disease that is characterized by severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas.
has db xref: ICD10CM:E74.01
has db xref: MESH:D005953
has db xref: NCI:C84733
has db xref: ORDO:364
has db xref: SNOMEDCT_US_2023_03_01:7265005
has db xref: UMLS_CUI:C0017920
has exact synonym: Glycogen storage disease 1
has exact synonym: deficiency of glucose-6-phosphatase
has exact synonym: glycogen storage disease type I
has exact synonym: glycogenosis type I
has exact synonym: von Gierke disease
has exact synonym: von Gierke's disease
has OBO namespace: disease_ontology
id: DOID:0081329
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: glycogen storage disease I
annotated property: IAO_0000115
annotated target: A glycogen storage disease that is characterized by severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas.
has db xref: url:https://en.wikipedia.org/wiki/Glycogen_storage_disease_type_I
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK1312/
has db xref: url:https://www.omim.org/entry/232200#33

sarcoma with BCOR genetic alterations
type: Class
subclass of: small cell sarcoma
IAO_0000115: A small cell sarcoma that is characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm and the presence of BCOR genetic alterations.
has db xref: ICDO:9368/3
has db xref: NCI:C178465
has exact synonym: BCOR-Rearranged Sarcoma
has OBO namespace: disease_ontology
id: DOID:0081402
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: sarcoma with BCOR genetic alterations
annotated property: IAO_0000115
annotated target: A small cell sarcoma that is characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm and the presence of BCOR genetic alterations.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/35730501/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/36202860/

BCOR ITD sarcoma
type: Class
subclass of: sarcoma with BCOR genetic alterations
IAO_0000115: A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR internal tandem duplication.
has db xref: NCI:C178468
has OBO namespace: disease_ontology
id: DOID:0081403
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: BCOR ITD sarcoma
annotated property: IAO_0000115
annotated target: A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR internal tandem duplication.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/36202860/

BCOR-CCNB3 sarcoma
type: Class
subclass of: sarcoma with BCOR genetic alterations
IAO_0000115: A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR-CCNB3 fusion gene.
has db xref: NCI:C178466
has OBO namespace: disease_ontology
id: DOID:0081404
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: BCOR-CCNB3 sarcoma
annotated property: IAO_0000115
annotated target: A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR-CCNB3 fusion gene.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/36202860/

childhood sarcoma with BCOR genetic alterations
type: Class
subclass of: sarcoma with BCOR genetic alterations
IAO_0000115: A sarcoma with BCOR genetic alterations that occurs during childhood.
has db xref: NCI:C189007
has OBO namespace: disease_ontology
id: DOID:0081405
in subset: DO cancer slim
in subset: DO childhood cancer slim
in subset: NCIthesaurus

Axiom
annotated source: childhood sarcoma with BCOR genetic alterations
annotated property: IAO_0000115
annotated target: A sarcoma with BCOR genetic alterations that occurs during childhood.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/36202860/

round cell sarcoma with EWSR1-non-ETS fusion
type: Class
subclass of: small cell sarcoma
IAO_0000115: A small cell sarcoma that is characterized by the presence of EWSR1 or FUS fusions involving partners unrelated to the ETS gene family.
has db xref: ICDO:9366/3
has db xref: NCI:C178459
has exact synonym: Ewing-Like Sarcoma or Round Cell Sarcoma
has exact synonym: Round Cell Sarcoma with EWSR1::non-ETS Fusion
has OBO namespace: disease_ontology
id: DOID:0081406
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: round cell sarcoma with EWSR1-non-ETS fusion
annotated property: IAO_0000115
annotated target: A small cell sarcoma that is characterized by the presence of EWSR1 or FUS fusions involving partners unrelated to the ETS gene family.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/35430129/

childhood round cell sarcoma with EWSR1-non-ETS fusion
type: Class
subclass of: round cell sarcoma with EWSR1-non-ETS fusion
IAO_0000115: A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by EWSR1-non-ETS fusion that occurs during childhood.
has db xref: NCI:C189003
has OBO namespace: disease_ontology
id: DOID:0081407
in subset: DO cancer slim
in subset: DO childhood cancer slim
in subset: NCIthesaurus

Axiom
annotated source: childhood round cell sarcoma with EWSR1-non-ETS fusion
annotated property: IAO_0000115
annotated target: A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by EWSR1-non-ETS fusion that occurs during childhood.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/36202860/

round cell sarcoma with EWSR1-NFATC2 gene fusion
type: Class
subclass of: round cell sarcoma with EWSR1-non-ETS fusion
IAO_0000115: A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-NFATC2 gene fusion.
has db xref: NCI:C178460
has OBO namespace: disease_ontology
id: DOID:0081408
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: round cell sarcoma with EWSR1-NFATC2 gene fusion
annotated property: IAO_0000115
annotated target: A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-NFATC2 gene fusion.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/35430129/

round cell sarcoma with EWSR1-PATZ1 gene fusion
type: Class
subclass of: round cell sarcoma with EWSR1-non-ETS fusion
IAO_0000115: A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-PATZ1 gene fusion.
has db xref: NCI:C178461
has OBO namespace: disease_ontology
id: DOID:0081409
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: round cell sarcoma with EWSR1-PATZ1 gene fusion
annotated property: IAO_0000115
annotated target: A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-PATZ1 gene fusion.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/30379650/

round cell sarcoma with FUS-NFATC2 gene fusion
type: Class
subclass of: round cell sarcoma with EWSR1-non-ETS fusion
IAO_0000115: A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of FUS-NFATC2 gene fusion.
has db xref: NCI:C178462
has OBO namespace: disease_ontology
id: DOID:0081410
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: round cell sarcoma with FUS-NFATC2 gene fusion
annotated property: IAO_0000115
annotated target: A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of FUS-NFATC2 gene fusion.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/31078563/

B-lymphoblastic leukemia with PAX5 p.P80R
type: Class
subclass of: B-lymphoblastic leukemia/lymphoma
IAO_0000115: A B-lymphoblastic leukemia/lymphoma that is associated with PAX5 P80R mutation.
has db xref: ICDO:9811/3
has db xref: NCI:C199260
has exact synonym: B acute lymphoblastic leukemia with PAX5 P80R mutation
has exact synonym: B-lymphoblastic leukaemia with PAX5 p.P80R
has exact synonym: B-lymphoblastic leukemia with PAX5 P80R
has OBO namespace: disease_ontology
id: DOID:0081411
in subset: DO cancer slim
in subset: NCIthesaurus
broad match: ICDO:9811/3

Axiom
annotated source: B-lymphoblastic leukemia with PAX5 p.P80R
annotated property: IAO_0000115
annotated target: A B-lymphoblastic leukemia/lymphoma that is associated with PAX5 P80R mutation.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/30510083/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/32463891/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/36241730/

B-lymphoblastic leukemia with DUX4 rearrangement
type: Class
subclass of: B-lymphoblastic leukemia/lymphoma
IAO_0000115: A B lymphoblastic leukemia/lymphoma that is associated with DUX4 gene rearrangement.
has db xref: ICDO:9811/3
has db xref: NCI:C199232
has exact synonym: B acute lymphoblastic leukemia with DUX4 rearrangement
has exact synonym: B-lymphoblastic leukaemia with DUX4 rearrangement
has OBO namespace: disease_ontology
id: DOID:0081412
in subset: DO cancer slim
in subset: NCIthesaurus
broad match: ICDO:9811/3

Axiom
annotated source: B-lymphoblastic leukemia with DUX4 rearrangement
annotated property: IAO_0000115
annotated target: A B lymphoblastic leukemia/lymphoma that is associated with DUX4 gene rearrangement.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/36602820/

renal cell carcinoma with MiT translocations
type: Class
subclass of: DOID 4450
IAO_0000115: A renal cell carcinoma that is characterized by papillary, alveolar and nested growth patterns with clear and eosinophilic cells and that is associated with translocations/gene fusions involving members of the MiT family of transcription factors.
has db xref: ICDO:8311/3
has db xref: NCI:C154494
has exact synonym: MiT Family Translocation-Associated Renal Cell Carcinoma
has exact synonym: MiT family translocation renal cell carcinoma
has OBO namespace: disease_ontology
id: DOID:0081413
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: renal cell carcinoma with MiT translocations
annotated property: IAO_0000115
annotated target: A renal cell carcinoma that is characterized by papillary, alveolar and nested growth patterns with clear and eosinophilic cells and that is associated with translocations/gene fusions involving members of the MiT family of transcription factors.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/25758327/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/31382581/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/36672892/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/37060647/

TFEB-rearranged renal cell carcinoma
type: Class
subclass of: renal cell carcinoma with MiT translocations
IAO_0000115: A renal cell carcinoma with MiT translocations that is characterized by the presence of the chromosomal translocation t(6;11) which fuses the TFEB transcription factor gene, located on chromosome 6, with the MALAT1 gene, located on chromosome 11.
has db xref: NCI:C37210
has exact synonym: Renal Cell Carcinoma with t(6;11);(p21;q12); MALAT1-TFEB
has exact synonym: Renal Cell Carcinoma with t(6;11);(p21;q12); MALAT1::TFEB
has exact synonym: t(6;11) Renal Cell Carcinoma
has exact synonym: t(6;11);(p21;q12) Renal Cell Carcinoma
has OBO namespace: disease_ontology
id: DOID:0081414
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: TFEB-rearranged renal cell carcinoma
annotated property: IAO_0000115
annotated target: A renal cell carcinoma with MiT translocations that is characterized by the presence of the chromosomal translocation t(6;11) which fuses the TFEB transcription factor gene, located on chromosome 6, with the MALAT1 gene, located on chromosome 11.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/36830782/

TFE3-rearranged renal cell carcinoma
type: Class
subclass of: renal cell carcinoma with MiT translocations
IAO_0000115: A renal cell carcinoma with MiT translocations that is characterized by the presence of different translocations involving the chromosome Xp11.2 and that result in the creation of gene fusions involving the TFE3 gene.
has db xref: NCI:C27891
has exact synonym: Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions
has exact synonym: Xp11 Translocation Renal Cell Carcinoma
has OBO namespace: disease_ontology
id: DOID:0081415
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: TFE3-rearranged renal cell carcinoma
annotated property: IAO_0000115
annotated target: A renal cell carcinoma with MiT translocations that is characterized by the presence of different translocations involving the chromosome Xp11.2 and that result in the creation of gene fusions involving the TFE3 gene.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/38104891/

childhood renal cell carcinoma with MiT translocations
type: Class
subclass of: renal cell carcinoma with MiT translocations
IAO_0000115: A renal cell carcinoma with MiT translocations that is characterized by a TFE3 or TFEB-rearranged renal cell carcinoma that occurs during childhood.
has db xref: NCI:C189242
has db xref: UMLS_CUI:C5708328
has OBO namespace: disease_ontology
id: DOID:0081416
in subset: DO cancer slim
in subset: DO childhood cancer slim
in subset: NCIthesaurus

Axiom
annotated source: childhood renal cell carcinoma with MiT translocations
annotated property: IAO_0000115
annotated target: A renal cell carcinoma with MiT translocations that is characterized by a TFE3 or TFEB-rearranged renal cell carcinoma that occurs during childhood.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/37528880/

poorly differentiated chordoma
type: Class
subclass of: chordoma
IAO_0000115: A chordoma that is characterized by loss of SMARCB1 expression and that is composed of sheets or nests of malignant epithelioid cells with abundant eosinophilic cytoplasm.
has db xref: ICDO:9370/3
has db xref: NCI:C177898
has OBO namespace: disease_ontology
id: DOID:0081417
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: poorly differentiated chordoma
annotated property: IAO_0000115
annotated target: A chordoma that is characterized by loss of SMARCB1 expression and that is composed of sheets or nests of malignant epithelioid cells with abundant eosinophilic cytoplasm.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/29483606/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/34482218/

anaplastic sarcoma of the kidney
type: Class
subclass of: kidney sarcoma
IAO_0000115: A kidney sarcoma that is characterized by a proliferation of anaplastic spindle cells with bizarre, pleomorphic nuclei and atypical mitotic figures.
has db xref: ICDO:8802/3
has db xref: NCI:C154496
has OBO namespace: disease_ontology
id: DOID:0081418
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: anaplastic sarcoma of the kidney
annotated property: IAO_0000115
annotated target: A kidney sarcoma that is characterized by a proliferation of anaplastic spindle cells with bizarre, pleomorphic nuclei and atypical mitotic figures.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/17895746/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/27006300/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/28862265/

sickle cell disease
type: Class
subclass of: DOID 74
IAO_0000115: A blood protein disease that is characterized by chronic hemolytic anemia and intermittent vaso-occlusive events that result in tissue ischemia leading to acute and chronic pain as well as organ damage that can affect any organ system, resulting from the replacement of one of the beta-globin subunits in hemoglobin with atypical hemoglobin molecules called hemoglobin S which can distort red blood cells into a sickle or crescent shape. Sickle cell disease subtypes should include a detailed genotypic description for the hemoglobin molecules (e.g., Hb S/S, Hb S/C, Hb S/β0-thalassemia).
has db xref: ICD10CM:D57
has db xref: ICD9CM:282.6
has db xref: MESH:D006450
has db xref: MIM:603903
has db xref: NCI:C34383
has db xref: NCI:C34676
has db xref: SNOMEDCT_US_2025_04_25:417357006
has db xref: UMLS_CUI:C0019034
has OBO namespace: disease_ontology
id: DOID:0081445
in subset: NCIthesaurus

Axiom
annotated source: sickle cell disease
annotated property: IAO_0000115
annotated target: A blood protein disease that is characterized by chronic hemolytic anemia and intermittent vaso-occlusive events that result in tissue ischemia leading to acute and chronic pain as well as organ damage that can affect any organ system, resulting from the replacement of one of the beta-globin subunits in hemoglobin with atypical hemoglobin molecules called hemoglobin S which can distort red blood cells into a sickle or crescent shape. Sickle cell disease subtypes should include a detailed genotypic description for the hemoglobin molecules (e.g., Hb S/S, Hb S/C, Hb S/β0-thalassemia).
has db xref: url:https://medlineplus.gov/genetics/condition/sickle-cell-disease
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK1377/
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK482164/

intrathyroid thymic carcinoma
type: Class
subclass of: thyroid gland carcinoma
IAO_0000115: A thyroid gland carcinoma composed of groups of carcinoma cells with thymic epithelial differentiation.
has db xref: ICDO:8589/3
has db xref: NCI:C46106
has exact synonym: CASTLE
has exact synonym: Carcinoma showing thymus-like differentiation
has exact synonym: Carcinoma showing thymus-like element
has exact synonym: Intrathyroid thymic carcinoma
has exact synonym: Thyroid_Gland_Carcinoma_Showing_Thymus-Like_Differentiation
has OBO namespace: disease_ontology
id: DOID:0081457
in subset: NCIthesaurus

Axiom
annotated source: intrathyroid thymic carcinoma
annotated property: IAO_0000115
annotated target: A thyroid gland carcinoma composed of groups of carcinoma cells with thymic epithelial differentiation.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/37925863/

Axiom
annotated source: intrathyroid thymic carcinoma
annotated property: hasExactSynonym
annotated target: CASTLE
has synonym type: OMO_0003012

thyroid gland cribriform morular carcinoma
type: Class
subclass of: thyroid gland carcinoma
IAO_0000115: A thyroid gland carcinoma that is characterized by the presence of cribriform, trabecular, follicular, papillary, and solid growth patterns and squamoid morulae formation.
has db xref: NCI:C126408
has exact synonym: CMTC
has exact synonym: Cribriform Morular Thyroid Gland Carcinoma
has exact synonym: Cribriform-Morular Variant Thyroid Gland Papillary Cancer
has exact synonym: Cribriform-Morular Variant Thyroid Gland Papillary Carcinoma
has exact synonym: Thyroid Gland Cribriform Morular Carcinoma
has OBO namespace: disease_ontology
id: DOID:0081458
in subset: NCIthesaurus

Axiom
annotated source: thyroid gland cribriform morular carcinoma
annotated property: IAO_0000115
annotated target: A thyroid gland carcinoma that is characterized by the presence of cribriform, trabecular, follicular, papillary, and solid growth patterns and squamoid morulae formation.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/35882545/

Axiom
annotated source: thyroid gland cribriform morular carcinoma
annotated property: hasExactSynonym
annotated target: CMTC
has synonym type: OMO_0003012

thyroid gland mixed medullary and follicular cell-derived carcinoma
type: Class
subclass of: thyroid gland carcinoma
IAO_0000115: A thyroid gland carcinoma containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and follicular cell-derived carcinoma component that is immunohistochemically positive for thyroglobulin.
has db xref: NCI:C46104
has exact synonym: mixed medullary and follicular cell-derived carcinomas
has OBO namespace: disease_ontology
id: DOID:0081459
in subset: NCIthesaurus

Axiom
annotated source: thyroid gland mixed medullary and follicular cell-derived carcinoma
annotated property: IAO_0000115
annotated target: A thyroid gland carcinoma containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and follicular cell-derived carcinoma component that is immunohistochemically positive for thyroglobulin.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/20574174/

thyroid gland mucinous carcinoma
type: Class
subclass of: thyroid gland carcinoma
IAO_0000115: A thyroid gland carcinoma that is characterized by the presence of clusters of malignant epithelial cells associated with abundant extracellular mucin deposition.
has db xref: NCI:C156267
has OBO namespace: disease_ontology
id: DOID:0081460
in subset: NCIthesaurus

Axiom
annotated source: thyroid gland mucinous carcinoma
annotated property: IAO_0000115
annotated target: A thyroid gland carcinoma that is characterized by the presence of clusters of malignant epithelial cells associated with abundant extracellular mucin deposition.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/24466763/

thyroid gland spindle epithelial tumor with thymus-like elements
type: Class
subclass of: thyroid gland carcinoma
IAO_0000115: A thyroid gland carcinoma that is characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells.
has db xref: NCI:C46105
has exact synonym: SETTLE
has exact synonym: Spindle Epithelial Tumor with Thymus-Like Elements
has exact synonym: Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation
has exact synonym: Thyroid Gland Spindle Epithelial Tumor with Thymus-Like Elements
has OBO namespace: disease_ontology
id: DOID:0081461
in subset: NCIthesaurus

Axiom
annotated source: thyroid gland spindle epithelial tumor with thymus-like elements
annotated property: IAO_0000115
annotated target: A thyroid gland carcinoma that is characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/21085772/

Axiom
annotated source: thyroid gland spindle epithelial tumor with thymus-like elements
annotated property: hasExactSynonym
annotated target: SETTLE
has synonym type: OMO_0003012

sitosterolemia
type: Class
subclass of: DOID 5295
IAO_0000115: An intestinal disease with autosomal recessive inheritance characterized by unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia.
has db xref: GARD:7653
has db xref: MESH:C537345
has db xref: MIM:PS210250
has db xref: NCI:C125694
has db xref: ORDO:2882
has db xref: SNOMEDCT_US_2023_03_01:238104009
has db xref: UMLS_CUI:C0342907
has exact synonym: phytosterolemia
has OBO namespace: disease_ontology
id: DOID:0090019
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: sitosterolemia
annotated property: IAO_0000115
annotated target: An intestinal disease with autosomal recessive inheritance characterized by unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia.
type: ECO_0007645
has db xref: url:https://medlineplus.gov/genetics/condition/sitosterolemia/
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK572142/
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/11099417
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/11138003

split hand-foot malformation
type: Class
subclass of: DOID 65
IAO_0000115: A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting.
has db xref: GARD:6319
has db xref: MESH:C574275
has db xref: MIM:PS183600
has db xref: NCI:C75000
has db xref: ORDO:2440
has db xref: SNOMEDCT_US_2023_03_01:81208006
has db xref: UMLS_CUI:C0265554
has exact synonym: lobster-claw deformity
has exact synonym: split-hand deformity
has OBO namespace: disease_ontology
id: DOID:0090020
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: split hand-foot malformation
annotated property: IAO_0000115
annotated target: A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/12668597
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/7802032

split hand-foot malformation 5
type: Class
subclass of: split hand-foot malformation
IAO_0000115: A split-hand/foot malformation that has_material_basis_in deletions in the chromosome region 2q31.
has db xref: MESH:C574275
has db xref: MIM:606708
has db xref: NCI:C75000
has db xref: ORDO:2440
has db xref: SNOMEDCT_US_2023_03_01:81208006
has db xref: UMLS_CUI:C0265554
has exact synonym: SHFM5
has OBO namespace: disease_ontology
id: DOID:0090022
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: split hand-foot malformation 5
annotated property: IAO_0000115
annotated target: A split-hand/foot malformation that has_material_basis_in deletions in the chromosome region 2q31.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/10364522

Axiom
annotated source: split hand-foot malformation 5
annotated property: hasExactSynonym
annotated target: SHFM5
has synonym type: OMO_0003012

split hand-foot malformation 4
type: Class
subclass of: split hand-foot malformation
IAO_0000115: A split-hand/foot malformation that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28.
has db xref: MESH:C574275
has db xref: MIM:605289
has db xref: NCI:C75000
has db xref: ORDO:2440
has db xref: SNOMEDCT_US_2023_03_01:81208006
has db xref: UMLS_CUI:C0265554
has exact synonym: SHFM4
has OBO namespace: disease_ontology
id: DOID:0090023
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: split hand-foot malformation 4
annotated property: IAO_0000115
annotated target: A split-hand/foot malformation that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/10839977

Axiom
annotated source: split hand-foot malformation 4
annotated property: hasExactSynonym
annotated target: SHFM4
has synonym type: OMO_0003012

split hand-foot malformation 3
type: Class
subclass of: split hand-foot malformation
IAO_0000115: A split-hand/foot malformation that has_material_basis_in a contiguous gene duplication syndrome on chromosome 10q24.
has db xref: MESH:C574275
has db xref: MIM:246560
has db xref: NCI:C75000
has db xref: ORDO:2440
has db xref: SNOMEDCT_US_2023_03_01:81208006
has db xref: UMLS_CUI:C0265554
has exact synonym: SHFM3
has exact synonym: chromosome 10q24 duplication syndrome
has exact synonym: distal limb deficiencies with micrognathia
has OBO namespace: disease_ontology
id: DOID:0090025
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: split hand-foot malformation 3
annotated property: IAO_0000115
annotated target: A split-hand/foot malformation that has_material_basis_in a contiguous gene duplication syndrome on chromosome 10q24.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/14699611

Axiom
annotated source: split hand-foot malformation 3
annotated property: hasExactSynonym
annotated target: SHFM3
has synonym type: OMO_0003012

split hand-foot malformation 6
type: Class
subclass of: split hand-foot malformation
IAO_0000115: A split-hand/foot malformation that has_material_basis_in homozygous mutation in the WNT10B gene on chromosome 12q13.
has db xref: MESH:C574275
has db xref: MIM:225300
has db xref: NCI:C75000
has db xref: ORDO:2440
has db xref: SNOMEDCT_US_2023_03_01:81208006
has db xref: UMLS_CUI:C0265554
has exact synonym: SHFM6
has OBO namespace: disease_ontology
id: DOID:0090026
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: split hand-foot malformation 6
annotated property: IAO_0000115
annotated target: A split-hand/foot malformation that has_material_basis_in homozygous mutation in the WNT10B gene on chromosome 12q13.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/18515319

Axiom
annotated source: split hand-foot malformation 6
annotated property: hasExactSynonym
annotated target: SHFM6
has synonym type: OMO_0003012

split hand-foot malformation 2
type: Class
subclass of: split hand-foot malformation
IAO_0000115: A split-hand/foot malformation that has_material_basis_in variation in the chromosome region Xq26.
has db xref: MESH:C574275
has db xref: MIM:313350
has db xref: NCI:C75000
has db xref: ORDO:2440
has db xref: SNOMEDCT_US_2023_03_01:81208006
has db xref: UMLS_CUI:C0265554
has exact synonym: SHFM2
has OBO namespace: disease_ontology
id: DOID:0090027
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: split hand-foot malformation 2
annotated property: IAO_0000115
annotated target: A split-hand/foot malformation that has_material_basis_in variation in the chromosome region Xq26.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/15617554

Axiom
annotated source: split hand-foot malformation 2
annotated property: hasExactSynonym
annotated target: SHFM2
has synonym type: OMO_0003012

familial isolated deficiency of vitamin E
type: Class
subclass of: DOID 655
IAO_0000115: A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has_material_basis_in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12.
has db xref: MESH:C535393
has db xref: MIM:277460
has db xref: NCI:C155996
has db xref: ORDO:96
has db xref: SNOMEDCT_US_2023_03_01:702442008
has db xref: UMLS_CUI:C1848533
has exact synonym: ataxia with isolated vitamin E deficiency
has exact synonym: familial isolated vitamin E deficiency
has OBO namespace: disease_ontology
id: DOID:0090028
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: familial isolated deficiency of vitamin E
annotated property: IAO_0000115
annotated target: A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has_material_basis_in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/2298915
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/7719340

BH4-deficient hyperphenylalaninemia A
type: Class
subclass of: DOID 9252
IAO_0000115: A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1.
has db xref: GARD:5682
has db xref: MESH:C535325
has db xref: MIM:261640
has db xref: NCI:C138171
has db xref: ORDO:13
has db xref: SNOMEDCT_US_2023_03_01:237914002
has db xref: UMLS_CUI:C0878676
has exact synonym: 6-pyruvoyl-tetrahydropterin synthase deficiency
has exact synonym: HPABH4A
has exact synonym: PTS deficiency
has exact synonym: hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency
has exact synonym: tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency
has OBO namespace: disease_ontology
id: DOID:0090106
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: BH4-deficient hyperphenylalaninemia A
annotated property: IAO_0000115
annotated target: A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1.
type: ECO_0007636
type: ECO_0007637
has db xref: url:https://ghr.nlm.nih.gov/condition/tetrahydrobiopterin-deficiency
has db xref: url:https://www.omim.org/entry/261640

Axiom
annotated source: BH4-deficient hyperphenylalaninemia A
annotated property: hasExactSynonym
annotated target: HPABH4A
has synonym type: OMO_0003012

congenital amegakaryocytic thrombocytopenia
type: Class
subclass of: blood platelet disease
IAO_0000115: A thrombocytopenia that is characterized by a severe reduction in megakaryocyte and platelet numbers.
has db xref: GARD:640
has db xref: MESH:C535982
has db xref: NCI:C115207
has db xref: ORDO:3319
has db xref: SNOMEDCT_US_2023_03_01:716336002
has db xref: UMLS_CUI:C1327915
has exact synonym: CAMT
has exact synonym: congenital amegakaryocytic thrombocytopenic purpura
has OBO namespace: disease_ontology
id: DOID:0090118
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: congenital amegakaryocytic thrombocytopenia
annotated property: IAO_0000115
annotated target: A thrombocytopenia that is characterized by a severe reduction in megakaryocyte and platelet numbers.
type: ECO_0007636
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/29191945
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/29384262
has db xref: url:https://www.omim.org/entry/604498

Axiom
annotated source: congenital amegakaryocytic thrombocytopenia
annotated property: hasExactSynonym
annotated target: CAMT
has synonym type: OMO_0003012

aromatic L-amino acid decarboxylase deficiency
type: Class
subclass of: DOID 655
IAO_0000115: An inherited metabolic disorder that is characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopa decarboxylase gene (DDC) on chromosome 7p12.
has db xref: GARD:770
has db xref: ICD10CM:E70.81
has db xref: MESH:C537437
has db xref: MIM:608643
has db xref: NCI:C142085
has db xref: ORDO:35708
has db xref: SNOMEDCT_US_2023_03_01:124600004
has db xref: UMLS_CUI:C1291564
has exact synonym: AADC deficiency
has OBO namespace: disease_ontology
id: DOID:0090123
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: aromatic L-amino acid decarboxylase deficiency
annotated property: IAO_0000115
annotated target: An inherited metabolic disorder that is characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopa decarboxylase gene (DDC) on chromosome 7p12.
type: ECO_0007636
type: ECO_0007637
has db xref: url:https://ghr.nlm.nih.gov/condition/aromatic-l-amino-acid-decarboxylase-deficiency
has db xref: url:https://www.omim.org/entry/608643

cortisone reductase deficiency 2
type: Class
subclass of: endocrine system disease
IAO_0000115: A cortisone reductase deficiency that is characterized by a failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the 11-beta-hydroxysteroid dehydrogenase type I (HSD11B1) gene on chromosome 1q32.
has db xref: MIM:614662
has db xref: NCI:C131084
has exact synonym: CORTRD2
has OBO namespace: disease_ontology
id: DOID:0090140
in subset: NCIthesaurus

Axiom
annotated source: cortisone reductase deficiency 2
annotated property: IAO_0000115
annotated target: A cortisone reductase deficiency that is characterized by a failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the 11-beta-hydroxysteroid dehydrogenase type I (HSD11B1) gene on chromosome 1q32.
type: ECO_0007636
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/29843121
has db xref: url:https://www.omim.org/entry/614662

Axiom
annotated source: cortisone reductase deficiency 2
annotated property: hasExactSynonym
annotated target: CORTRD2
has synonym type: OMO_0003012

cortisone reductase deficiency 1
type: Class
subclass of: endocrine system disease
IAO_0000115: A cortisone reductase deficiency that is characterized by failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase which requires NADPH regeneration by hexose-6-phosphate dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hexose-6-phosphate dehydrogenase gene (H6PD) on chromosome 1p36.
has db xref: MIM:604931
has db xref: NCI:C131849
has exact synonym: CORTRD1
has OBO namespace: disease_ontology
id: DOID:0090141
in subset: NCIthesaurus

Axiom
annotated source: cortisone reductase deficiency 1
annotated property: IAO_0000115
annotated target: A cortisone reductase deficiency that is characterized by failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase which requires NADPH regeneration by hexose-6-phosphate dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hexose-6-phosphate dehydrogenase gene (H6PD) on chromosome 1p36.
type: ECO_0007636
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/29843121
has db xref: url:https://www.omim.org/entry/604931

Axiom
annotated source: cortisone reductase deficiency 1
annotated property: hasExactSynonym
annotated target: CORTRD1
has synonym type: OMO_0003012

cystathioninuria
type: Class
subclass of: DOID 9252
IAO_0000115: An amino acid metabolic disorder that is characterized by elevated plasma and urinary cystathionine levels that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding cystathionine gamma-lyase (CTH) on chromosome 1p31.
has db xref: GARD:2428
has db xref: ICD10CM:E72.19
has db xref: MESH:C535408
has db xref: MIM:219500
has db xref: NCI:C129070
has db xref: ORDO:212
has db xref: SNOMEDCT_US_2023_03_01:13003007
has db xref: SNOMEDCT_US_2023_03_01:6885006
has db xref: UMLS_CUI:C0220993
has db xref: UMLS_CUI:C0268616
has exact synonym: cystathionase deficiency
has exact synonym: cystathione gamma-lyase deficiency syndrome
has exact synonym: gamma-cystathionase deficiency
has OBO namespace: disease_ontology
id: DOID:0090142
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: cystathioninuria
annotated property: IAO_0000115
annotated target: An amino acid metabolic disorder that is characterized by elevated plasma and urinary cystathionine levels that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding cystathionine gamma-lyase (CTH) on chromosome 1p31.
type: ECO_0007636
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/20584029
has db xref: url:https://www.omim.org/entry/219500

osteogenesis imperfecta type 1
type: Class
subclass of: osteogenesis imperfecta
IAO_0000115: An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.
has db xref: GARD:8694
has db xref: MESH:D010013
has db xref: MIM:166200
has db xref: NCI:C99003
has db xref: ORDO:216796
has db xref: SNOMEDCT_US_2023_03_01:3508009
has db xref: UMLS_CUI:C0023931
has exact synonym: OI1
has exact synonym: osteogenesis imperfecta type I
has OBO namespace: disease_ontology
id: DOID:0110334
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: osteogenesis imperfecta type 1
annotated property: IAO_0000115
annotated target: An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/2873381

Axiom
annotated source: osteogenesis imperfecta type 1
annotated property: hasExactSynonym
annotated target: OI1
has synonym type: OMO_0003012

congenital merosin-deficient muscular dystrophy 1A
type: Class
subclass of: DOID 9884
IAO_0000115: A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22.
has db xref: MESH:C537384
has db xref: MIM:607855
has db xref: NCI:C118783
has db xref: ORDO:258
has db xref: SNOMEDCT_US_2023_03_01:787037000
has db xref: UMLS_CUI:C1263858
has exact synonym: CMD1A
has exact synonym: MDC1A
has exact synonym: Merosin-negative congenital muscular dystrophy
has exact synonym: congenital muscular dystrophy due to laminin alpha2 deficiency
has OBO namespace: disease_ontology
id: DOID:0110636
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: congenital merosin-deficient muscular dystrophy 1A
annotated property: IAO_0000115
annotated target: A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/24611677
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/7550355

Axiom
annotated source: congenital merosin-deficient muscular dystrophy 1A
annotated property: hasExactSynonym
annotated target: CMD1A
has synonym type: OMO_0003012

Axiom
annotated source: congenital merosin-deficient muscular dystrophy 1A
annotated property: hasExactSynonym
annotated target: MDC1A
has synonym type: OMO_0003012

Usher syndrome type 1
type: Class
subclass of: Usher syndrome
IAO_0000115: An Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa.
has db xref: GARD:5435
has db xref: ICD10CM:H35.5
has db xref: MIM:276900
has db xref: NCI:C126327
has db xref: ORDO:231169
has db xref: UMLS_CUI:C1568247
has exact synonym: US1
has exact synonym: USH1
has OBO namespace: disease_ontology
id: DOID:0110826
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Usher syndrome type 1
annotated property: IAO_0000115
annotated target: An Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa.
type: ECO_0007637
type: ECO_0007645
type: ECO_0007646
has db xref: url:https://ghr.nlm.nih.gov/condition/usher-syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK1265/
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/2909824

Axiom
annotated source: Usher syndrome type 1
annotated property: hasExactSynonym
annotated target: US1
has synonym type: OMO_0003012

Axiom
annotated source: Usher syndrome type 1
annotated property: hasExactSynonym
annotated target: USH1
has synonym type: OMO_0003012

Usher syndrome type 2
type: Class
subclass of: Usher syndrome
IAO_0000115: An Usher syndrome characterized by mild to severe congenital hearing impairment, normal vestibular function and later development of retinitis pigmentosa.
has db xref: MESH:D052245
has db xref: NCI:C126328
has db xref: ORDO:231178
has db xref: SNOMEDCT_US_2021_09_01:232058008
has exact synonym: USH2
has OBO namespace: disease_ontology
id: DOID:0110827
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Usher syndrome type 2
annotated property: IAO_0000115
annotated target: An Usher syndrome characterized by mild to severe congenital hearing impairment, normal vestibular function and later development of retinitis pigmentosa.
type: ECO_0007637
type: ECO_0007645
type: ECO_0007646
has db xref: url:https://ghr.nlm.nih.gov/condition/usher-syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK1341/
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/2909824
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/9624053

Axiom
annotated source: Usher syndrome type 2
annotated property: hasExactSynonym
annotated target: USH2
has synonym type: OMO_0003012

Usher syndrome type 3
type: Class
subclass of: Usher syndrome
IAO_0000115: An Usher syndrome characterized by progressive hearing loss typically beginning in late childhood, variable vestibular dysfunction and onset of retinitis pigmentosa by the second decade of life.
has db xref: GARD:5442
has db xref: MESH:D052245
has db xref: NCI:C126329
has db xref: ORDO:231183
has exact synonym: USH3
has OBO namespace: disease_ontology
id: DOID:0110828
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Usher syndrome type 3
annotated property: IAO_0000115
annotated target: An Usher syndrome characterized by progressive hearing loss typically beginning in late childhood, variable vestibular dysfunction and onset of retinitis pigmentosa by the second decade of life.
type: ECO_0007637
type: ECO_0007645
has db xref: url:https://ghr.nlm.nih.gov/condition/usher-syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/2909824
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/8864816

Axiom
annotated source: Usher syndrome type 3
annotated property: hasExactSynonym
annotated target: USH3
has synonym type: OMO_0003012

retinitis pigmentosa-deafness syndrome
type: Class
subclass of: Usher syndrome
IAO_0000115: An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has_material_basis_in mutation in the MTTS2 gene in the mitochondrial genome.
has db xref: GARD:4684
has db xref: MESH:D052245
has db xref: MIM:500004
has db xref: NCI:C126329
has db xref: ORDO:231183
has db xref: SNOMEDCT_US_2023_03_01:1010610007
has db xref: UMLS_CUI:C1568248
has OBO namespace: disease_ontology
id: DOID:0110829
in subset: DO rare slim
in subset: NCIthesaurus
comment: Orphanet has this as part of USH3, reference listed refers to symptoms being almost identical to USH3 but inheritance pattern is different. I made this a child of Usher Syndrome but not USH3 - smb.

Axiom
annotated source: retinitis pigmentosa-deafness syndrome
annotated property: IAO_0000115
annotated target: An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has_material_basis_in mutation in the MTTS2 gene in the mitochondrial genome.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/10090882

autosomal recessive polycystic kidney disease
type: Class
subclass of: DOID 557
IAO_0000115: A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion.
has db xref: GARD:8378
has db xref: ICD10CM:Q61.1
has db xref: ICD9CM:753.14
has db xref: MESH:D017044
has db xref: NCI:C84579
has db xref: ORDO:731
has db xref: SNOMEDCT_US_2023_03_01:28770003
has db xref: UMLS_CUI:C0085548
has exact synonym: AR-PKD
has OBO namespace: disease_ontology
id: DOID:0110861
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: autosomal recessive polycystic kidney disease
annotated property: IAO_0000115
annotated target: A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion.
type: ECO_0007637
has db xref: url:https://rarediseases.info.nih.gov/diseases/8378/autosomal-recessive-polycystic-kidney-disease

Axiom
annotated source: autosomal recessive polycystic kidney disease
annotated property: hasExactSynonym
annotated target: AR-PKD
has synonym type: OMO_0003012

Waardenburg syndrome type 1
type: Class
subclass of: DOID 9258
IAO_0000115: A Waardenburg syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.
has db xref: MESH:D014849
has db xref: MIM:193500
has db xref: NCI:C75008
has db xref: ORDO:894
has db xref: SNOMEDCT_US_2023_03_01:1010606009
has db xref: UMLS_CUI:C1847800
has exact synonym: WS1
has exact synonym: Waardenburg syndrome type I
has OBO namespace: disease_ontology
id: DOID:0110948
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Waardenburg syndrome type 1
annotated property: IAO_0000115
annotated target: A Waardenburg syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/1347148
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/20127975

Axiom
annotated source: Waardenburg syndrome type 1
annotated property: hasExactSynonym
annotated target: WS1
has synonym type: OMO_0003012

gray platelet syndrome
type: Class
subclass of: blood platelet disease
IAO_0000115: A blood platelet disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has_material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21.
has db xref: GARD:2562
has db xref: ICD10CM:D69.1
has db xref: MESH:D055652
has db xref: MIM:139090
has db xref: NCI:C84741
has db xref: ORDO:721
has db xref: SNOMEDCT_US_2023_03_01:51720005
has db xref: UMLS_CUI:C0272302
has exact synonym: BDPLT4
has exact synonym: GPS
has exact synonym: platelet alpha-granule deficiency
has exact synonym: platelet-type bleeding disorder 4
has OBO namespace: disease_ontology
id: DOID:0111044
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: gray platelet syndrome
annotated property: IAO_0000115
annotated target: A blood platelet disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has_material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/17768118
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/21765411
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/21765412
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/21765413

Axiom
annotated source: gray platelet syndrome
annotated property: hasExactSynonym
annotated target: BDPLT4
has synonym type: OMO_0003012

Axiom
annotated source: gray platelet syndrome
annotated property: hasExactSynonym
annotated target: GPS
has synonym type: OMO_0003012

platelet-type bleeding disorder 17
type: Class
subclass of: blood platelet disease
IAO_0000115: A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34.
has db xref: ICD10CM:D69.1
has db xref: MESH:D055652
has db xref: MIM:187900
has db xref: NCI:C84741
has db xref: SNOMEDCT_US_2023_03_01:51720005
has db xref: UMLS_CUI:C0272302
has exact synonym: BDPLT17
has exact synonym: hereditary thrombasthenia-thrombocytopenia
has OBO namespace: disease_ontology
id: DOID:0111049
in subset: NCIthesaurus

Axiom
annotated source: platelet-type bleeding disorder 17
annotated property: IAO_0000115
annotated target: A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/24325358
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/5681484

Axiom
annotated source: platelet-type bleeding disorder 17
annotated property: hasExactSynonym
annotated target: BDPLT17
has synonym type: OMO_0003012

von Willebrand's disease 3
type: Class
subclass of: von Willebrand's disease
IAO_0000115: A von Willebrand's disease characterized by autosomal recessive inheritance of a severe quantitative defect or virtual absence of VWF in plasma, prolonged bleeding time, and more severe bleeding tendencies compared to the other types of von Willebrand disease that has_material_basis_in homozygous or compound heterozygous mutation in the VWF gene which maps to chromosome 12p13.
has db xref: ICD10CM:D68.03
has db xref: MESH:D056729
has db xref: MIM:277480
has db xref: NCI:C85213
has db xref: ORDO:166096
has db xref: SNOMEDCT_US_2023_03_01:128108002
has db xref: UMLS_CUI:C1264041
has exact synonym: VWD type 3
has exact synonym: VWD3
has exact synonym: von Willebrand disease type 3
has exact synonym: von Willebrand disease type III
has OBO namespace: disease_ontology
id: DOID:0111054
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: von Willebrand's disease 3
annotated property: IAO_0000115
annotated target: A von Willebrand's disease characterized by autosomal recessive inheritance of a severe quantitative defect or virtual absence of VWF in plasma, prolonged bleeding time, and more severe bleeding tendencies compared to the other types of von Willebrand disease that has_material_basis_in homozygous or compound heterozygous mutation in the VWF gene which maps to chromosome 12p13.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/19630771
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/3258663

Axiom
annotated source: von Willebrand's disease 3
annotated property: hasExactSynonym
annotated target: VWD3
has synonym type: OMO_0003012

angioimmunoblastic T-cell lymphoma
type: Class
subclass of: T-cell non-Hodgkin lymphoma
IAO_0000115: A peripheral T-cell lymphoma characterized by autoimmune features and poor prognosis.
has db xref: GARD:11973
has db xref: ICD10CM:C86.5
has db xref: ICDO:9705/3
has db xref: MEDDRA:10002449
has db xref: MESH:D007119
has db xref: NCI:C7528
has db xref: ORDO:86886
has db xref: SNOMEDCT_US_2023_03_01:52097008
has db xref: UMLS_CUI:C0020981
has OBO namespace: disease_ontology
id: DOID:0111147
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: angioimmunoblastic T-cell lymphoma
annotated property: IAO_0000115
annotated target: A peripheral T-cell lymphoma characterized by autoimmune features and poor prognosis.
type: ECO_0007636
type: ECO_0007645
has db xref: url:https://rarediseases.org/rare-diseases/angioimmunoblastic-t-cell-lymphoma/
has db xref: url:https://www.lymphoma.org/aboutlymphoma/nhl/aitl/
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/22700722

isolated ectopia lentis
type: Class
subclass of: lens disease
IAO_0000115: A lens disease characterized by abnormal stretching of the zonular fibers resulting in dislocation of the lens. This dislocation may be mild to severe and may progress with age.
has db xref: ICD10CM:Q12.1
has db xref: ICD9CM:743.37
has db xref: MESH:C536184
has db xref: MESH:D004479
has db xref: NCI:C125484
has db xref: ORDO:1885
has db xref: SNOMEDCT_US_2023_03_01:231976001
has db xref: UMLS_CUI:C0013581
has db xref: UMLS_CUI:C2746069
has exact synonym: IEL
has exact synonym: familial ectopia lentis
has OBO namespace: disease_ontology
id: DOID:0111148
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: isolated ectopia lentis
annotated property: IAO_0000115
annotated target: A lens disease characterized by abnormal stretching of the zonular fibers resulting in dislocation of the lens. This dislocation may be mild to severe and may progress with age.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/20141359

Axiom
annotated source: isolated ectopia lentis
annotated property: hasExactSynonym
annotated target: IEL
has synonym type: OMO_0003012

multicentric Castleman disease
type: Class
subclass of: Castleman disease
IAO_0000115: A Castleman disease characterized by systemic inflammatory symptoms, polyclonal lymphoproliferation, cytopenias, and multiple organ system dysfunction caused by a cytokine storm often including interleukin-6.
has db xref: GARD:9644
has db xref: MESH:C537372
has db xref: NCI:C27855
has db xref: ORDO:93686
has db xref: SNOMEDCT_US_2023_03_01:1156805003
has db xref: UMLS_CUI:C1334815
has exact synonym: MCD
has exact synonym: PMCD
has exact synonym: multicentric giant lymph node hyperplasia
has exact synonym: plasmablastic multicentric Castleman disease
has OBO namespace: disease_ontology
id: DOID:0111152
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: multicentric Castleman disease
annotated property: IAO_0000115
annotated target: A Castleman disease characterized by systemic inflammatory symptoms, polyclonal lymphoproliferation, cytopenias, and multiple organ system dysfunction caused by a cytokine storm often including interleukin-6.
type: ECO_0007637
type: ECO_0007645
has db xref: url:http://www.bloodjournal.org/content/129/12/1646
has db xref: url:https://rarediseases.info.nih.gov/diseases/9644/multicentric-castleman-disease

Axiom
annotated source: multicentric Castleman disease
annotated property: hasExactSynonym
annotated target: MCD
has synonym type: OMO_0003012

Axiom
annotated source: multicentric Castleman disease
annotated property: hasExactSynonym
annotated target: PMCD
has synonym type: OMO_0003012

Castleman disease
type: Class
subclass of: DOID 612
IAO_0000115: A lymphoproliferative syndrome characterized by one or more enlarged lymph nodes containing cells with hyaline-vascular, plasmacytic, or mixed appearance microscopically.
has db xref: GARD:12656
has db xref: ICD10CM:D47.Z2
has db xref: MESH:C536362
has db xref: MESH:D005871
has db xref: NCI:C3056
has db xref: ORDO:160
has db xref: SNOMEDCT_US_2023_03_01:207036003
has db xref: UMLS_CUI:C0017531
has db xref: UMLS_CUI:C2931179
has exact synonym: angiofollicular lymph hyperplasia
has exact synonym: angiofollicular lymph node hyperplasia
has exact synonym: giant lymph node hyperplasia
has exact synonym: lymphoid hamartoma
has OBO namespace: disease_ontology
id: DOID:0111157
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Castleman disease
annotated property: IAO_0000115
annotated target: A lymphoproliferative syndrome characterized by one or more enlarged lymph nodes containing cells with hyaline-vascular, plasmacytic, or mixed appearance microscopically.
type: ECO_0007636
has db xref: url:https://rarediseases.org/rare-diseases/castlemans-disease/

subcortical band heterotopia
type: Class
subclass of: disease
IAO_0000115: A congenital nervous system abnormality characterized by migration of neurons to ectopic locations in the brain where the neurons form areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex.
has db xref: MESH:D054221
has db xref: MIM:600348
has db xref: NCI:C116933
has db xref: ORDO:99796
has db xref: UMLS_CUI:C1848201
has exact synonym: HeCo
has exact synonym: band heterotopia
has exact synonym: double cortex syndrome
has exact synonym: heterotopic cortex
has exact synonym: subcortical laminar heterotopia
has OBO namespace: disease_ontology
id: DOID:0111169
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: subcortical band heterotopia
annotated property: IAO_0000115
annotated target: A congenital nervous system abnormality characterized by migration of neurons to ectopic locations in the brain where the neurons form areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex.
type: ECO_0007637
type: ECO_0007645
has db xref: url:https://rarediseases.info.nih.gov/diseases/1904/subcortical-band-heterotopia
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/24859200

Axiom
annotated source: subcortical band heterotopia
annotated property: hasExactSynonym
annotated target: HeCo
has synonym type: OMO_0003012

autosomal dominant distal hereditary motor neuronopathy 1
type: Class
subclass of: spinal muscular atrophy
IAO_0000115: An autosomal dominant distal hereditary motor neuronopathy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration and that has_material_basis_in heterozygous 1.35-Mb DNA insertion on chromosome 7q34-q36.2. This structural variant (SV) results in the production of a novel gene-intergenic fusion transcript, UBE3C-IF.
has db xref: MESH:C566675
has db xref: MIM:182960
has db xref: NCI:C132826
has db xref: ORDO:139518
has db xref: SNOMEDCT_US_2023_03_01:770630005
has db xref: UMLS_CUI:C1866784
has exact synonym: HMN I
has exact synonym: autosomal dominant distal juvenile spinal muscular atrophy type 1
has exact synonym: dHMN1
has exact synonym: distal hereditary motor neuronopathy type 1
has exact synonym: distal hereditary motor neuropathy type I
has exact synonym: spinal Charcot-Marie-Tooth disease 1
has OBO namespace: disease_ontology
id: DOID:0111200
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: autosomal dominant distal hereditary motor neuronopathy 1
annotated property: IAO_0000115
annotated target: An autosomal dominant distal hereditary motor neuronopathy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration and that has_material_basis_in heterozygous 1.35-Mb DNA insertion on chromosome 7q34-q36.2. This structural variant (SV) results in the production of a novel gene-intergenic fusion transcript, UBE3C-IF.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/17354000
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/7365507

Axiom
annotated source: autosomal dominant distal hereditary motor neuronopathy 1
annotated property: hasExactSynonym
annotated target: HMN I
has synonym type: OMO_0003012

Axiom
annotated source: autosomal dominant distal hereditary motor neuronopathy 1
annotated property: hasExactSynonym
annotated target: dHMN1
has synonym type: OMO_0003012

centronuclear myopathy X-linked
type: Class
subclass of: centronuclear myopathy
IAO_0000115: A centronuclear myopathy that has_material_basis_in X-linked inheritance of mutations in MTM1 on Xq28.
has db xref: GARD:11925
has db xref: ICD10CM:G71.220
has db xref: MESH:D020914
has db xref: MIM:310400
has db xref: NCI:C118781
has db xref: ORDO:596
has db xref: SNOMEDCT_US_2023_03_01:46804001
has db xref: UMLS_CUI:C0410203
has exact synonym: CNMX
has exact synonym: MTM1
has exact synonym: X-linked myotubular myopathy
has exact synonym: XLCNM
has exact synonym: XLMTM
has exact synonym: myotubular myopathy 1
has OBO namespace: disease_ontology
id: DOID:0111225
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: centronuclear myopathy X-linked
annotated property: IAO_0000115
annotated target: A centronuclear myopathy that has_material_basis_in X-linked inheritance of mutations in MTM1 on Xq28.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/8640223

Axiom
annotated source: centronuclear myopathy X-linked
annotated property: hasExactSynonym
annotated target: CNMX
has synonym type: OMO_0003012

Axiom
annotated source: centronuclear myopathy X-linked
annotated property: hasExactSynonym
annotated target: MTM1
has synonym type: OMO_0003012

Axiom
annotated source: centronuclear myopathy X-linked
annotated property: hasExactSynonym
annotated target: XLCNM
has synonym type: OMO_0003012

Axiom
annotated source: centronuclear myopathy X-linked
annotated property: hasExactSynonym
annotated target: XLMTM
has synonym type: OMO_0003012

vestibular schwannomatosis
type: Class
subclass of: schwannomatosis
IAO_0000115: A schwannomatosis characterized by bilateral vestibular schwannomas or a combination of unilateral vestibular schwannomas, non-vestibular schwannomas, meningiomas, ependymomas, and specific eye abnormalities that has_material_basis_in heterozygous mutation in the NF2 gene on chromosome 22q12.2. Eye abnormalities include juvenile subcapsular or cortical cataract, epiretinal membrane in a person less than 40 years old, and retinal hamartoma. This disease has been revised by international consensus. It was previously referred to as neurofibromatosis 2.
has db xref: GARD:7193
has db xref: ICD10CM:Q85.02
has db xref: ICD9CM:237.72
has db xref: MESH:D016518
has db xref: MIM:101000
has db xref: NCI:C3274
has db xref: ORDO:637
has db xref: SNOMEDCT_US_2023_03_01:92503002
has db xref: UMLS_CUI:C0027832
has exact synonym: ACN
has exact synonym: BANF
has exact synonym: NF2
has exact synonym: NF2-related schwannomatosis
has exact synonym: SWN3
has exact synonym: SWNV
has exact synonym: acoustic neurofibromatosis
has exact synonym: bilateral acoustic neurinoma
has exact synonym: bilateral acoustic neurofibromatosis
has exact synonym: bilateral acoustic schwannomas
has exact synonym: central neurofibromatosis
has exact synonym: familial acoustic neuromas
has exact synonym: neurofibromatosis 2
has exact synonym: neurofibromatosis type II
has exact synonym: schwannomatosis 3
has OBO namespace: disease_ontology
id: DOID:0111252
in subset: DO rare slim
in subset: NCIthesaurus
narrow match: ORDO:634475

Axiom
annotated source: vestibular schwannomatosis
annotated property: IAO_0000115
annotated target: A schwannomatosis characterized by bilateral vestibular schwannomas or a combination of unilateral vestibular schwannomas, non-vestibular schwannomas, meningiomas, ependymomas, and specific eye abnormalities that has_material_basis_in heterozygous mutation in the NF2 gene on chromosome 22q12.2. Eye abnormalities include juvenile subcapsular or cortical cataract, epiretinal membrane in a person less than 40 years old, and retinal hamartoma. This disease has been revised by international consensus. It was previously referred to as neurofibromatosis 2.
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/35674741/

Axiom
annotated source: vestibular schwannomatosis
annotated property: hasExactSynonym
annotated target: ACN
has synonym type: OMO_0003012

Axiom
annotated source: vestibular schwannomatosis
annotated property: hasExactSynonym
annotated target: BANF
has synonym type: OMO_0003012

Axiom
annotated source: vestibular schwannomatosis
annotated property: hasExactSynonym
annotated target: NF2
has synonym type: OMO_0003012

Axiom
annotated source: vestibular schwannomatosis
annotated property: hasExactSynonym
annotated target: SWN3
has synonym type: OMO_0003012

Axiom
annotated source: vestibular schwannomatosis
annotated property: hasExactSynonym
annotated target: SWNV
has synonym type: OMO_0003012

neurofibromatosis 1
type: Class
subclass of: DOID 8712
IAO_0000115: A neurofibromatosis characterized by multiple cafe-au-lait macules, skin fold freckling, neurofibromas, optic gliomas, Lisch nodules or choroidal abnormalities in the eye, or a specific bone abnormality that has_material_basis_in the NF1 gene on chromosome 17q11.2. Bone abnormalities include a distinctive osseous lesion such as sphenoid dysplasia, anterolateral bowing of the tibia, or pseudarthrosis of a long bone.
has db xref: ICD10CM:Q85.01
has db xref: ICD9CM:237.71
has db xref: MESH:D009456
has db xref: MIM:162200
has db xref: NCI:C3273
has db xref: ORDO:636
has db xref: SNOMEDCT_US_2023_03_01:92824003
has db xref: UMLS_CUI:C0027831
has exact synonym: NF1
has exact synonym: Peripheral Neurofibromatosis
has exact synonym: Recklinghausen's neurofibromatosis
has exact synonym: neurofibromatosis type I
has exact synonym: von Recklinghausen Disease
has OBO namespace: disease_ontology
id: DOID:0111253
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: neurofibromatosis 1
annotated property: IAO_0000115
annotated target: A neurofibromatosis characterized by multiple cafe-au-lait macules, skin fold freckling, neurofibromas, optic gliomas, Lisch nodules or choroidal abnormalities in the eye, or a specific bone abnormality that has_material_basis_in the NF1 gene on chromosome 17q11.2. Bone abnormalities include a distinctive osseous lesion such as sphenoid dysplasia, anterolateral bowing of the tibia, or pseudarthrosis of a long bone.
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/34012067/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/35698197/

Axiom
annotated source: neurofibromatosis 1
annotated property: hasExactSynonym
annotated target: NF1
has synonym type: OMO_0003012

CODAS syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by developmental delay, and cerebral, ocular, dental, auricular, and skeletal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in LONP1 on 19p13.3.
has db xref: GARD:1418
has db xref: MESH:C536434
has db xref: MIM:600373
has db xref: NCI:C126744
has db xref: ORDO:1458
has db xref: SNOMEDCT_US_2023_03_01:717772000
has db xref: UMLS_CUI:C1838180
has exact synonym: cerebral, ocular, dental, auricular, and skeletal syndrome
has exact synonym: cerebro-oculo-dento-auriculo-skeletal syndrome
has OBO namespace: disease_ontology
id: DOID:0111274
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: CODAS syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by developmental delay, and cerebral, ocular, dental, auricular, and skeletal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in LONP1 on 19p13.3.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/25574826

mitochondrial trifunctional protein deficiency
type: Class
subclass of: DOID 655
IAO_0000115: A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from several neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.
has db xref: GARD:3684
has db xref: MESH:C566945
has db xref: MIM:PS609015
has db xref: NCI:C98991
has db xref: ORDO:746
has db xref: SNOMEDCT_US_2023_03_01:237999008
has db xref: UMLS_CUI:C1969443
has exact synonym: MTPD
has exact synonym: TFP deficiency
has exact synonym: TFPD
has OBO namespace: disease_ontology
id: DOID:0111277
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: mitochondrial trifunctional protein deficiency
annotated property: IAO_0000115
annotated target: A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from several neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/12754706
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/12838198
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/7738175

Axiom
annotated source: mitochondrial trifunctional protein deficiency
annotated property: hasExactSynonym
annotated target: MTPD
has synonym type: OMO_0003012

Axiom
annotated source: mitochondrial trifunctional protein deficiency
annotated property: hasExactSynonym
annotated target: TFPD
has synonym type: OMO_0003012

histiocytosis-lymphadenopathy plus syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by histiocytosis, hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, and reduced height that has_material_basis_in homozygous or compound heterozygous mutation in SLC29A3 on 10q22.1. This syndrome comprises features from 4 histiocytic disorders that were previously considered distinct: Faisalabad histiocytosis, sinus histiocytosis with massive lymphadenopathy, H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome.
has db xref: GARD:7588
has db xref: ICDO:9749/3
has db xref: MIM:602782
has db xref: NCI:C36075
has exact synonym: Faisalabad histiocytosis
has exact synonym: H syndrome
has exact synonym: HJCD
has exact synonym: PHID
has exact synonym: Rosai–Dorfman disease
has exact synonym: SHML
has exact synonym: cutaneous hyperpigmentation with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss
has exact synonym: familial Rosai-Dorfman disease
has exact synonym: histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures and/or deafness
has exact synonym: histiocytosis with joint contractures and sensorineural deafness
has exact synonym: pigmented hypertrichosis with insulin-dependent diabetes mellitus
has exact synonym: sinus histiocytosis and massive lymphadenopathy
has OBO namespace: disease_ontology
id: DOID:0111278
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: histiocytosis-lymphadenopathy plus syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by histiocytosis, hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, and reduced height that has_material_basis_in homozygous or compound heterozygous mutation in SLC29A3 on 10q22.1. This syndrome comprises features from 4 histiocytic disorders that were previously considered distinct: Faisalabad histiocytosis, sinus histiocytosis with massive lymphadenopathy, H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/20140240

Axiom
annotated source: histiocytosis-lymphadenopathy plus syndrome
annotated property: hasExactSynonym
annotated target: HJCD
has synonym type: OMO_0003012

Axiom
annotated source: histiocytosis-lymphadenopathy plus syndrome
annotated property: hasExactSynonym
annotated target: PHID
has synonym type: OMO_0003012

Axiom
annotated source: histiocytosis-lymphadenopathy plus syndrome
annotated property: hasExactSynonym
annotated target: SHML
has synonym type: OMO_0003012

Jackson-Weiss syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13.
has db xref: GARD:6796
has db xref: MESH:C537559
has db xref: MIM:123150
has db xref: NCI:C123814
has db xref: ORDO:1540
has db xref: SNOMEDCT_US_2023_03_01:709105005
has db xref: UMLS_CUI:C0795998
has exact synonym: JWS
has exact synonym: craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome
has OBO namespace: disease_ontology
id: DOID:0111337
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Jackson-Weiss syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/1271196
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/7874170

Axiom
annotated source: Jackson-Weiss syndrome
annotated property: hasExactSynonym
annotated target: JWS
has synonym type: OMO_0003012

Floating-Harbor syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by growth retardation, proportionate short stature, delayed bone age, delayed speech development and facial features including triangular shape, deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips that has_material_basis_in heterozygous mutation in the SRCAP gene on chromosome 16p11.2.
has db xref: GARD:6455
has db xref: MESH:C537062
has db xref: MIM:136140
has db xref: NCI:C175241
has db xref: ORDO:2044
has db xref: SNOMEDCT_US_2023_03_01:205810007
has db xref: UMLS_CUI:C0729582
has exact synonym: FLHS
has OBO namespace: disease_ontology
id: DOID:0111358
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Floating-Harbor syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by growth retardation, proportionate short stature, delayed bone age, delayed speech development and facial features including triangular shape, deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips that has_material_basis_in heterozygous mutation in the SRCAP gene on chromosome 16p11.2.
type: ECO_0007637
type: ECO_0007645
has db xref: url:https://ghr.nlm.nih.gov/condition/floating-harbor-syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/22265015
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/7588969

Axiom
annotated source: Floating-Harbor syndrome
annotated property: hasExactSynonym
annotated target: FLHS
has synonym type: OMO_0003012

large congenital melanocytic nevus
type: Class
subclass of: skin disease
IAO_0000115: A skin disease characterized by the presence at birth of a pigmented skin lesion composed of melanocytes of more than 20 cm in projected adult diameter that has_material_basis_in somatic mutation in the NRAS gene on chromosome 11p15.5.
has db xref: GARD:2469
has db xref: MEDDRA:10072036
has db xref: MESH:C536819
has db xref: MIM:137550
has db xref: NCI:C3944
has db xref: NCI:C4234
has db xref: ORDO:626
has db xref: SNOMEDCT_US_2023_03_01:254815002
has db xref: SNOMEDCT_US_2023_03_01:84953004
has db xref: UMLS_CUI:C1318558
has db xref: UMLS_CUI:C1842036
has exact synonym: Congenital pigmented nevus
has exact synonym: GMN
has exact synonym: Giant congenital melanocytic nevus
has exact synonym: Giant pigmented hairy nevus
has exact synonym: LCMN
has OBO namespace: disease_ontology
id: DOID:0111359
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: large congenital melanocytic nevus
annotated property: IAO_0000115
annotated target: A skin disease characterized by the presence at birth of a pigmented skin lesion composed of melanocytes of more than 20 cm in projected adult diameter that has_material_basis_in somatic mutation in the NRAS gene on chromosome 11p15.5.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/18671780
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/23392294

Axiom
annotated source: large congenital melanocytic nevus
annotated property: hasExactSynonym
annotated target: GMN
has synonym type: OMO_0003012

Axiom
annotated source: large congenital melanocytic nevus
annotated property: hasExactSynonym
annotated target: LCMN
has synonym type: OMO_0003012

hyperalphalipoproteinemia 1
type: Class
subclass of: DOID 655
IAO_0000115: A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in the CETP gene on chromosome 16q13.
has db xref: MESH:C564591
has db xref: MIM:143470
has db xref: NCI:C128806
has db xref: SNOMEDCT_US_2023_03_01:238080004
has db xref: UMLS_CUI:C0342883
has exact synonym: HALP1
has OBO namespace: disease_ontology
id: DOID:0111369
in subset: NCIthesaurus

Axiom
annotated source: hyperalphalipoproteinemia 1
annotated property: IAO_0000115
annotated target: A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in the CETP gene on chromosome 16q13.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/2215607
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/6738363

Axiom
annotated source: hyperalphalipoproteinemia 1
annotated property: hasExactSynonym
annotated target: HALP1
has synonym type: OMO_0003012

fetal akinesia deformation sequence syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by decreased fetal movements, intrauterine growth restriction, joint contractures, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism that often has_material_basis_in mutation in a gene associated with the neuromuscular junction.
has db xref: GARD:9634
has db xref: MESH:C536647
has db xref: MIM:PS208150
has db xref: NCI:C129071
has db xref: ORDO:994
has db xref: SNOMEDCT_US_2023_03_01:401138005
has db xref: UMLS_CUI:C1276035
has exact synonym: FADS
has exact synonym: Pena-Shokeir syndrome type 1
has exact synonym: arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
has exact synonym: fetal akinesia sequence
has exact synonym: foetal akinesia deformation sequence syndrome
has exact synonym: foetal akinesia sequence
has OBO namespace: disease_ontology
id: DOID:0111375
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: fetal akinesia deformation sequence syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by decreased fetal movements, intrauterine growth restriction, joint contractures, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism that often has_material_basis_in mutation in a gene associated with the neuromuscular junction.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/19261599
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/22482962
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/30498368

Axiom
annotated source: fetal akinesia deformation sequence syndrome
annotated property: hasExactSynonym
annotated target: FADS
has synonym type: OMO_0003012

mucopolysaccharidosis Ih/s
type: Class
subclass of: mucopolysaccharidosis I
IAO_0000115: A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3.
has db xref: GARD:12560
has db xref: ICD10CM:E76.02
has db xref: MESH:D008059
has db xref: MIM:607015
has db xref: NCI:C122782
has db xref: ORDO:93476
has db xref: SNOMEDCT_US_2023_03_01:26745009
has db xref: UMLS_CUI:C0086431
has exact synonym: MPS1H/S
has exact synonym: MPSIH/S
has exact synonym: Mucopolysaccharidosis type 1H/S
has OBO namespace: disease_ontology
id: DOID:0111389
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: mucopolysaccharidosis Ih/s
annotated property: IAO_0000115
annotated target: A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/10466419
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/2128891
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/7550242

Axiom
annotated source: mucopolysaccharidosis Ih/s
annotated property: hasExactSynonym
annotated target: MPS1H/S
has synonym type: OMO_0003012

Axiom
annotated source: mucopolysaccharidosis Ih/s
annotated property: hasExactSynonym
annotated target: MPSIH/S
has synonym type: OMO_0003012

mucopolysaccharidosis Ih
type: Class
subclass of: mucopolysaccharidosis I
IAO_0000115: A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3.
has db xref: GARD:12559
has db xref: ICD10CM:E76.01
has db xref: MESH:D008059
has db xref: MIM:607014
has db xref: NCI:C61261
has db xref: ORDO:93473
has db xref: SNOMEDCT_US_2023_03_01:65327002
has db xref: UMLS_CUI:C0086795
has exact synonym: Dysostosis multiplex syndrome
has exact synonym: Hurler disease MPS type 1H
has exact synonym: Hurler-Pfaundler syndrome
has exact synonym: L-iduronidase deficiency, Hurler type
has exact synonym: MPS1-H
has exact synonym: Mucopolysaccharidosis type I severe form
has exact synonym: dysostosis multiplex
has exact synonym: gargoylism
has OBO namespace: disease_ontology
id: DOID:0111390
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: mucopolysaccharidosis Ih
annotated property: IAO_0000115
annotated target: A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/3124802
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/7550242

Axiom
annotated source: mucopolysaccharidosis Ih
annotated property: hasExactSynonym
annotated target: MPS1-H
has synonym type: OMO_0003012

mucopolysaccharidosis IVA
type: Class
subclass of: mucopolysaccharidosis IV
IAO_0000115: A mucopolysaccharidosis IV characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate resulting in short stature, skeletal dysplasia, dental anomalies, and corneal clouding that has_material_basis_in homozygous or compound heterozygous mutation in the GALNS gene on chromosome 16q24.3.
has db xref: GARD:3785
has db xref: ICD10CM:E76.210
has db xref: MESH:D009085
has db xref: MIM:253000
has db xref: NCI:C84901
has db xref: ORDO:309297
has db xref: SNOMEDCT_US_2023_03_01:7259005
has db xref: UMLS_CUI:C0086651
has exact synonym: GALNS deficiency
has exact synonym: MPS IVA
has exact synonym: MPS4A
has exact synonym: Morquio A disease
has exact synonym: Morquio syndrome A
has OBO namespace: disease_ontology
id: DOID:0111391
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: mucopolysaccharidosis IVA
annotated property: IAO_0000115
annotated target: A mucopolysaccharidosis IV characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate resulting in short stature, skeletal dysplasia, dental anomalies, and corneal clouding that has_material_basis_in homozygous or compound heterozygous mutation in the GALNS gene on chromosome 16q24.3.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/18412124
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/7607677

Axiom
annotated source: mucopolysaccharidosis IVA
annotated property: hasExactSynonym
annotated target: MPS IVA
has synonym type: OMO_0003012

Axiom
annotated source: mucopolysaccharidosis IVA
annotated property: hasExactSynonym
annotated target: MPS4A
has synonym type: OMO_0003012

mucopolysaccharidosis type IVB
type: Class
subclass of: mucopolysaccharidosis IV
IAO_0000115: A mucopolysaccharidosis IV characterized by skeletal dysplasia, corneal clouding, and increased urinary keratan sulfate excretion that has_material_basis_in homozygous or compound heterozygous mutation in the GLB1 gene on chromosome 3p22.3.
has db xref: ICD10CM:E76.211
has db xref: MESH:D009085
has db xref: MIM:253010
has db xref: NCI:C84902
has db xref: ORDO:309310
has db xref: SNOMEDCT_US_2023_03_01:254075008
has db xref: UMLS_CUI:C0086652
has exact synonym: MPS IVB
has exact synonym: MPS4B
has exact synonym: Morquio disease type B
has exact synonym: Morquio syndrome B
has exact synonym: beta-D-galactosidase deficiency
has exact synonym: mucopolysaccharidosis type IVB (Morquio)
has OBO namespace: disease_ontology
id: DOID:0111392
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: mucopolysaccharidosis type IVB
annotated property: IAO_0000115
annotated target: A mucopolysaccharidosis IV characterized by skeletal dysplasia, corneal clouding, and increased urinary keratan sulfate excretion that has_material_basis_in homozygous or compound heterozygous mutation in the GLB1 gene on chromosome 3p22.3.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/1928092
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/817853

Axiom
annotated source: mucopolysaccharidosis type IVB
annotated property: hasExactSynonym
annotated target: MPS IVB
has synonym type: OMO_0003012

Axiom
annotated source: mucopolysaccharidosis type IVB
annotated property: hasExactSynonym
annotated target: MPS4B
has synonym type: OMO_0003012

mucopolysaccharidosis type IIIC
type: Class
subclass of: mucopolysaccharidosis III
IAO_0000115: A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the HGSNAT gene on chromosome 8p11.2-p11.1.
has db xref: GARD:7073
has db xref: ICD10CM:E76.22
has db xref: MESH:D009084
has db xref: MIM:252930
has db xref: NCI:C84899
has db xref: ORDO:79271
has db xref: SNOMEDCT_US_2023_03_01:75238000
has db xref: UMLS_CUI:C0086649
has exact synonym: Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency
has exact synonym: HGSNAT deficiency
has exact synonym: Heparan-alpha-glucosaminide N-acetyltransferase deficiency
has exact synonym: MPS3C
has exact synonym: MPSIIIC
has exact synonym: Mucopolysaccharidosis type 3C
has exact synonym: Sanfilippo syndrome type C
has exact synonym: mucopolysaccharidosis type IIIC (Sanfilippo C)
has OBO namespace: disease_ontology
id: DOID:0111393
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: mucopolysaccharidosis type IIIC
annotated property: IAO_0000115
annotated target: A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the HGSNAT gene on chromosome 8p11.2-p11.1.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/16960811

Axiom
annotated source: mucopolysaccharidosis type IIIC
annotated property: hasExactSynonym
annotated target: MPS3C
has synonym type: OMO_0003012

Axiom
annotated source: mucopolysaccharidosis type IIIC
annotated property: hasExactSynonym
annotated target: MPSIIIC
has synonym type: OMO_0003012

mucopolysaccharidosis type IIIB
type: Class
subclass of: mucopolysaccharidosis III
IAO_0000115: A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2.
has db xref: GARD:7072
has db xref: ICD10CM:E76.22
has db xref: MESH:D009084
has db xref: MIM:252920
has db xref: NCI:C84898
has db xref: ORDO:79270
has db xref: SNOMEDCT_US_2023_03_01:254071004
has db xref: UMLS_CUI:C0086648
has exact synonym: MPS3B
has exact synonym: MPSIIIB
has exact synonym: Mucopoly-saccharidosis type 3B
has exact synonym: Mucopolysaccharidosis type 3B
has exact synonym: N-acetyl-alpha-glucosaminidase deficiency
has exact synonym: NAGLU deficiency
has exact synonym: Sanfilippo syndrome type B
has exact synonym: mucopolysaccharidosis type IIIB (Sanfilippo B)
has OBO namespace: disease_ontology
id: DOID:0111394
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: mucopolysaccharidosis type IIIB
annotated property: IAO_0000115
annotated target: A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/15933803
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/8650226

Axiom
annotated source: mucopolysaccharidosis type IIIB
annotated property: hasExactSynonym
annotated target: MPS3B
has synonym type: OMO_0003012

Axiom
annotated source: mucopolysaccharidosis type IIIB
annotated property: hasExactSynonym
annotated target: MPSIIIB
has synonym type: OMO_0003012

mucopolysaccharidosis type IIIA
type: Class
subclass of: mucopolysaccharidosis III
IAO_0000115: A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the SGSH gene on chromosome 17q25.3.
has db xref: ICD10CM:E76.22
has db xref: MESH:D009084
has db xref: MIM:252900
has db xref: NCI:C84897
has db xref: ORDO:79269
has db xref: SNOMEDCT_US_2023_03_01:254070003
has db xref: UMLS_CUI:C0086647
has exact synonym: MPS3A
has exact synonym: MPSIIIA
has exact synonym: Sanfilippo syndrome type A
has exact synonym: heparan sulfamidase deficiency
has exact synonym: mucopolysaccharidosis III-A
has exact synonym: mucopolysaccharidosis type 3A
has exact synonym: mucopolysaccharidosis type IIIA (Sanfilippo A)
has OBO namespace: disease_ontology
id: DOID:0111395
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: mucopolysaccharidosis type IIIA
annotated property: IAO_0000115
annotated target: A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the SGSH gene on chromosome 17q25.3.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/6796310
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/7493035

Axiom
annotated source: mucopolysaccharidosis type IIIA
annotated property: hasExactSynonym
annotated target: MPS3A
has synonym type: OMO_0003012

Axiom
annotated source: mucopolysaccharidosis type IIIA
annotated property: hasExactSynonym
annotated target: MPSIIIA
has synonym type: OMO_0003012

congenital dyserythropoietic anemia type IVa
type: Class
subclass of: congenital dyserythropoietic anemia
IAO_0000115: A congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis resulting in anemia and abnormal erythroblast morphology that has_material_basis_in heterozygous mutation in the KLF1 gene on chromosome 19p13.13.
has db xref: MIM:613673
has db xref: NCI:C157148
has db xref: ORDO:293825
has db xref: SNOMEDCT_US_2023_03_01:719453009
has db xref: UMLS_CUI:C3150926
has exact synonym: CDA IV
has exact synonym: CDA due to KLF1 mutation
has exact synonym: CDA type 4
has exact synonym: CDA type IV
has exact synonym: CDAN4
has exact synonym: Congenital dyserythropoietic anaemia due to KLF1 mutation
has exact synonym: Congenital dyserythropoietic anaemia type 4
has exact synonym: Congenital dyserythropoietic anemia due to KLF1 mutation
has exact synonym: Congenital dyserythropoietic anemia type 4
has exact synonym: congenital dyserythropoietic anaemia type IV
has OBO namespace: disease_ontology
id: DOID:0111400
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: congenital dyserythropoietic anemia type IVa
annotated property: IAO_0000115
annotated target: A congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis resulting in anemia and abnormal erythroblast morphology that has_material_basis_in heterozygous mutation in the KLF1 gene on chromosome 19p13.13.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/21055716

Axiom
annotated source: congenital dyserythropoietic anemia type IVa
annotated property: hasExactSynonym
annotated target: CDA IV
has synonym type: OMO_0003012

Axiom
annotated source: congenital dyserythropoietic anemia type IVa
annotated property: hasExactSynonym
annotated target: CDAN4
has synonym type: OMO_0003012

congenital dyserythropoietic anemia type II
type: Class
subclass of: congenital dyserythropoietic anemia
IAO_0000115: A congenital dyserythropoietic anemia characterized by mild to severe anemia, bi- and multinucleated erythroblasts in bone marrow, jaundice and splenomegaly and may lead to liver iron overload and gallstones that has_material_basis_in homozygous or compound heterozygous mutation in the SEC23B gene on chromosome 20p11.23.
has db xref: GARD:2001
has db xref: MESH:D000742
has db xref: MIM:224100
has db xref: NCI:C175991
has db xref: ORDO:98873
has db xref: SNOMEDCT_US_2023_03_01:68870007
has db xref: UMLS_CUI:C1306589
has exact synonym: CDA II
has exact synonym: CDA type 2
has exact synonym: CDA type II
has exact synonym: CDAN2
has exact synonym: Congenital dyserythropoietic anaemia type 2
has exact synonym: Congenital dyserythropoietic anemia type 2
has exact synonym: Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)
has exact synonym: SEC23B-CDG
has exact synonym: congenital dyserythropoietic anaemia type II
has OBO namespace: disease_ontology
id: DOID:0111401
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: congenital dyserythropoietic anemia type II
annotated property: IAO_0000115
annotated target: A congenital dyserythropoietic anemia characterized by mild to severe anemia, bi- and multinucleated erythroblasts in bone marrow, jaundice and splenomegaly and may lead to liver iron overload and gallstones that has_material_basis_in homozygous or compound heterozygous mutation in the SEC23B gene on chromosome 20p11.23.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/19561605

Axiom
annotated source: congenital dyserythropoietic anemia type II
annotated property: hasExactSynonym
annotated target: CDA II
has synonym type: OMO_0003012

Axiom
annotated source: congenital dyserythropoietic anemia type II
annotated property: hasExactSynonym
annotated target: CDAN2
has synonym type: OMO_0003012

Axiom
annotated source: congenital dyserythropoietic anemia type II
annotated property: hasExactSynonym
annotated target: SEC23B-CDG
has synonym type: OMO_0003012

mucopolysaccharidosis type IIID
type: Class
subclass of: mucopolysaccharidosis III
IAO_0000115: A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3.
has db xref: GARD:7074
has db xref: ICD10CM:E76.22
has db xref: MESH:D009084
has db xref: MIM:252940
has db xref: NCI:C84900
has db xref: ORDO:79272
has db xref: SNOMEDCT_US_2023_03_01:15892005
has db xref: UMLS_CUI:C0086650
has exact synonym: GNS deficiency
has exact synonym: MPS IIID
has exact synonym: MPS3D
has exact synonym: Mucopolysaccharidosis type 3D
has exact synonym: N-acetylglucosamine-6-sulfatase deficiency
has exact synonym: Sanfilippo syndrome D
has exact synonym: Sanfilippo syndrome type D
has OBO namespace: disease_ontology
id: DOID:0111402
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: mucopolysaccharidosis type IIID
annotated property: IAO_0000115
annotated target: A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/12573255

Axiom
annotated source: mucopolysaccharidosis type IIID
annotated property: hasExactSynonym
annotated target: MPS IIID
has synonym type: OMO_0003012

Axiom
annotated source: mucopolysaccharidosis type IIID
annotated property: hasExactSynonym
annotated target: MPS3D
has synonym type: OMO_0003012

progressive myoclonus epilepsy 7
type: Class
subclass of: DOID 891
IAO_0000115: A progressive myoclonus epilepsy characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life that has_material_basis_in heterozygous mutation in the KCNC1 gene on chromosome 11p15.1.
has db xref: MIM:616187
has db xref: NCI:C142804
has db xref: ORDO:435438
has db xref: SNOMEDCT_US_2023_03_01:1208939001
has db xref: UMLS_CUI:C4015420
has exact synonym: EPM7
has exact synonym: MEAK
has exact synonym: Myoclonus epilepsy and ataxia due to potassium channel mutation
has exact synonym: PME type 7
has exact synonym: Progressive myoclonic epilepsy due to KV3.1 deficiency
has exact synonym: Progressive myoclonus epilepsy type 7
has OBO namespace: disease_ontology
id: DOID:0111447
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: progressive myoclonus epilepsy 7
annotated property: IAO_0000115
annotated target: A progressive myoclonus epilepsy characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life that has_material_basis_in heterozygous mutation in the KCNC1 gene on chromosome 11p15.1.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/25401298

Axiom
annotated source: progressive myoclonus epilepsy 7
annotated property: hasExactSynonym
annotated target: EPM7
has synonym type: OMO_0003012

Axiom
annotated source: progressive myoclonus epilepsy 7
annotated property: hasExactSynonym
annotated target: MEAK
has synonym type: OMO_0003012

classic galactosemia
type: Class
subclass of: DOID 9870
IAO_0000115: A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALT gene on chromosome 9p13.3.
has db xref: GARD:13639
has db xref: MESH:D005693
has db xref: MIM:230400
has db xref: NCI:C99104
has db xref: ORDO:79239
has db xref: SNOMEDCT_US_2023_03_01:398664009
has db xref: UMLS_CUI:C0268151
has exact synonym: GALT deficiency
has exact synonym: galactose-1-phosphate uridyltransferase deficiency
has exact synonym: galactosemia type 1
has OBO namespace: disease_ontology
id: DOID:0111459
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: classic galactosemia
annotated property: IAO_0000115
annotated target: A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALT gene on chromosome 9p13.3.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/11261429

combined oxidative phosphorylation deficiency 1
type: Class
subclass of: DOID 655
IAO_0000115: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM1 gene on chromosome 3q25.32.
has db xref: MESH:C563797
has db xref: MIM:609060
has db xref: NCI:C125663
has db xref: ORDO:137681
has db xref: UMLS_CUI:C1836797
has exact synonym: COXPD1
has exact synonym: early fatal progressive hepatoencephalopathy
has exact synonym: hepatoencephalopathy due to COXPD1
has exact synonym: hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
has OBO namespace: disease_ontology
id: DOID:0111474
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: combined oxidative phosphorylation deficiency 1
annotated property: IAO_0000115
annotated target: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM1 gene on chromosome 3q25.32.
type: ECO_0007645
has db xref: url:https://ghr.nlm.nih.gov/condition/combined-oxidative-phosphorylation-deficiency-1

Axiom
annotated source: combined oxidative phosphorylation deficiency 1
annotated property: hasExactSynonym
annotated target: COXPD1
has synonym type: OMO_0003012

lymphedema-distichiasis syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by lymphedema of the limbs and double rows of eyelashes that has_material_basis_in heterozygous mutation in the FOXC2 gene on chromosome 16q24.1.
has db xref: GARD:333
has db xref: MESH:C537710
has db xref: MIM:153400
has db xref: NCI:C128191
has db xref: ORDO:33001
has db xref: SNOMEDCT_US_2023_03_01:8634009
has db xref: UMLS_CUI:C0265345
has exact synonym: LPHDST
has exact synonym: lymphedema with distichiasis
has OBO namespace: disease_ontology
id: DOID:0111509
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: lymphedema-distichiasis syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by lymphedema of the limbs and double rows of eyelashes that has_material_basis_in heterozygous mutation in the FOXC2 gene on chromosome 16q24.1.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/11078474

Axiom
annotated source: lymphedema-distichiasis syndrome
annotated property: hasExactSynonym
annotated target: LPHDST
has synonym type: OMO_0003012

Marshall syndrome
type: Class
subclass of: ectodermal dysplasia
IAO_0000115: An ectodermal dysplasia characterized by hypoplasia of the maxilla, nasal bones, and frontal sinuses, as well as calvarial thickening, myopia, early-onset cataracts, and sensorineural hearing loss that has_material_basis_in heterozygous or homozygous mutation (most frequently affecting splice sites) in the COL11A1 gene on chromosome 1p21.1. Mutations, typically null, in the COL11A1 gene may also cause Stickler syndrome.
has db xref: GARD:6984
has db xref: MESH:C536025
has db xref: MIM:154780
has db xref: NCI:C128115
has db xref: ORDO:560
has db xref: SNOMEDCT_US_2023_03_01:33410002
has db xref: UMLS_CUI:C0265235
has exact synonym: MRSHS
has exact synonym: deafness, myopia, cataract, saddle nose-Marshall type
has OBO namespace: disease_ontology
id: DOID:0111510
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Marshall syndrome
annotated property: IAO_0000115
annotated target: An ectodermal dysplasia characterized by hypoplasia of the maxilla, nasal bones, and frontal sinuses, as well as calvarial thickening, myopia, early-onset cataracts, and sensorineural hearing loss that has_material_basis_in heterozygous or homozygous mutation (most frequently affecting splice sites) in the COL11A1 gene on chromosome 1p21.1. Mutations, typically null, in the COL11A1 gene may also cause Stickler syndrome.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/13520885
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/25073711
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/9529347

Axiom
annotated source: Marshall syndrome
annotated property: hasExactSynonym
annotated target: MRSHS
has synonym type: OMO_0003012

melanoma and neural system tumor syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by predisposition to cutaneous melanoma and neural tumor (typically astrocytomas) development that has_material_basis_in heterozygous mutation in the CDKN2A gene on chromosome 9p21.3.
has db xref: GARD:8468
has db xref: MESH:C536149
has db xref: MIM:155755
has db xref: NCI:C176905
has db xref: ORDO:252206
has db xref: SNOMEDCT_US_2023_03_01:717968005
has db xref: UMLS_CUI:C1835042
has exact synonym: melanoma-astrocytoma syndrome
has OBO namespace: disease_ontology
id: DOID:0111511
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: melanoma and neural system tumor syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by predisposition to cutaneous melanoma and neural tumor (typically astrocytomas) development that has_material_basis_in heterozygous mutation in the CDKN2A gene on chromosome 9p21.3.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/10797439
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/8414022
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/8635060

metatropic dysplasia
type: Class
subclass of: osteochondrodysplasia
IAO_0000115: A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.
has db xref: GARD:3571
has db xref: MESH:C537356
has db xref: MIM:156530
has db xref: NCI:C175209
has db xref: ORDO:2635
has db xref: SNOMEDCT_US_2023_03_01:22764001
has db xref: UMLS_CUI:C0265281
has exact synonym: metatropic dwarfism
has OBO namespace: disease_ontology
id: DOID:0111514
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: metatropic dysplasia
annotated property: IAO_0000115
annotated target: A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.
type: ECO_0007636
type: ECO_0007645
has db xref: url:https://ghr.nlm.nih.gov/condition/metatropic-dysplasia
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/18348257
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/4963592

Mullerian aplasia and hyperandrogenism
type: Class
subclass of: gonadal disease
IAO_0000115: A disorder of sexual development characterized by primary amenorrhea, an underdeveloped or absent uterus, and clinical hyperandrogenism that has_material_basis_in heterozygous mutation in the WNT4 gene on chromosome 1p36.12.
has db xref: MESH:C567186
has db xref: MIM:158330
has db xref: NCI:C120376
has db xref: ORDO:247768
has db xref: UMLS_CUI:C2675014
has exact synonym: Mullerian duct failure and hyperandrogenism
has exact synonym: WNT4 deficiency
has OBO namespace: disease_ontology
id: DOID:0111526
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Mullerian aplasia and hyperandrogenism
annotated property: IAO_0000115
annotated target: A disorder of sexual development characterized by primary amenorrhea, an underdeveloped or absent uterus, and clinical hyperandrogenism that has_material_basis_in heterozygous mutation in the WNT4 gene on chromosome 1p36.12.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/15317892

bilateral optic nerve hypoplasia
type: Class
subclass of: optic nerve disease
IAO_0000115: An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13.
has db xref: GARD:8419
has db xref: ICD10CM:H47.03
has db xref: ICD9CM:377.43
has db xref: MESH:D000080344
has db xref: MIM:165550
has db xref: NCI:C98999
has db xref: ORDO:137902
has db xref: SNOMEDCT_US_2023_03_01:95499004
has db xref: UMLS_CUI:C0338502
has exact synonym: ONH
has exact synonym: familial bilateral optic nerve hypoplasia
has exact synonym: isolated optic nerve hypoplasia/aplasia
has OBO namespace: disease_ontology
id: DOID:0111531
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: bilateral optic nerve hypoplasia
annotated property: IAO_0000115
annotated target: An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/12721955

Axiom
annotated source: bilateral optic nerve hypoplasia
annotated property: hasExactSynonym
annotated target: ONH
has synonym type: OMO_0003012

multicentric carpotarsal osteolysis syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by progressive loss of bone, typically involving the carpal and tarsal bones, and in many cases chronic renal failure that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12.
has db xref: GARD:3818
has db xref: MESH:C567171
has db xref: MIM:166300
has db xref: NCI:C178416
has db xref: ORDO:2774
has db xref: SNOMEDCT_US_2023_03_01:766992008
has db xref: UMLS_CUI:C2674705
has exact synonym: MCTO
has exact synonym: autosomal dominant multicentric osteolysis
has exact synonym: hereditary osteolysis of carpal bones with or without nephropathy
has exact synonym: idiopathic multicentric osteolysis with or without nephropathy
has exact synonym: multicentric carpo-tarsal osteolysis with or without nephropathy
has exact synonym: multicentric osteolysis nephropathy
has OBO namespace: disease_ontology
id: DOID:0111534
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: multicentric carpotarsal osteolysis syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by progressive loss of bone, typically involving the carpal and tarsal bones, and in many cases chronic renal failure that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/22387013
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/3041835

Axiom
annotated source: multicentric carpotarsal osteolysis syndrome
annotated property: hasExactSynonym
annotated target: MCTO
has synonym type: OMO_0003012

progressive osseous heteroplasia
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of the GNAS gene on chromosome 20q13.32.
has db xref: GARD:109
has db xref: MEDDRA:10048902
has db xref: MESH:C562735
has db xref: MIM:166350
has db xref: NCI:C132062
has db xref: ORDO:2762
has db xref: SNOMEDCT_US_2023_03_01:404074003
has db xref: UMLS_CUI:C0334041
has exact synonym: POH
has exact synonym: ectopic ossification familial type
has exact synonym: familial ectopic ossification
has exact synonym: osteoma cutis
has OBO namespace: disease_ontology
id: DOID:0111535
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: progressive osseous heteroplasia
annotated property: IAO_0000115
annotated target: A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of the GNAS gene on chromosome 20q13.32.
type: ECO_0007636
type: ECO_0007645
has db xref: url:https://ghr.nlm.nih.gov/condition/progressive-osseous-heteroplasia
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/11784876
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/8126048

Axiom
annotated source: progressive osseous heteroplasia
annotated property: hasExactSynonym
annotated target: POH
has synonym type: OMO_0003012

paroxysmal extreme pain disorder
type: Class
subclass of: DOID 574
IAO_0000115: An autonomic nervous system disease characterized by onset in the neonatal period or infancy of paroxysms of rectal, ocular, or submandibular pain with flushing that has_material_basis_in heterozygous mutation in the SCN9A gene on chromosome 2q24.3.
has db xref: GARD:12854
has db xref: MESH:C563475
has db xref: MIM:167400
has db xref: NCI:C125385
has db xref: ORDO:46348
has db xref: SNOMEDCT_US_2023_03_01:699190008
has db xref: UMLS_CUI:C1833661
has exact synonym: PEPD
has exact synonym: PEXPD
has exact synonym: familial rectal pain
has exact synonym: submandibular, ocular and rectal pain with flushing
has OBO namespace: disease_ontology
id: DOID:0111537
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: paroxysmal extreme pain disorder
annotated property: IAO_0000115
annotated target: An autonomic nervous system disease characterized by onset in the neonatal period or infancy of paroxysms of rectal, ocular, or submandibular pain with flushing that has_material_basis_in heterozygous mutation in the SCN9A gene on chromosome 2q24.3.
type: ECO_0007636
type: ECO_0007645
has db xref: url:https://ghr.nlm.nih.gov/condition/paroxysmal-extreme-pain-disorder
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/17145499

Axiom
annotated source: paroxysmal extreme pain disorder
annotated property: hasExactSynonym
annotated target: PEPD
has synonym type: OMO_0003012

Axiom
annotated source: paroxysmal extreme pain disorder
annotated property: hasExactSynonym
annotated target: PEXPD
has synonym type: OMO_0003012

paramyotonia congenita of Von Eulenburg
type: Class
subclass of: neuromuscular disease
IAO_0000115: A neuromuscular disease characterized by onset in infancy or early childhood of bouts of myotonia and muscle weakness that are increased by cold exposure that has_material_basis_in heterozygous mutation in the SCN4A gene on chromosome 17q23.3.
has db xref: GARD:7325
has db xref: ICD10CM:G71.19
has db xref: MESH:D020967
has db xref: MIM:168300
has db xref: NCI:C122790
has db xref: ORDO:684
has db xref: SNOMEDCT_US_2023_03_01:41574007
has db xref: UMLS_CUI:C0221055
has exact synonym: Eulenburg disease
has exact synonym: PMC
has exact synonym: Von Eulenburg paramyotonia congenita
has exact synonym: myotonia congenita intermittens
has exact synonym: paralysis periodica paramyotonica
has exact synonym: paramyotonia congenita
has OBO namespace: disease_ontology
id: DOID:0111538
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: paramyotonia congenita of Von Eulenburg
annotated property: IAO_0000115
annotated target: A neuromuscular disease characterized by onset in infancy or early childhood of bouts of myotonia and muscle weakness that are increased by cold exposure that has_material_basis_in heterozygous mutation in the SCN4A gene on chromosome 17q23.3.
type: ECO_0007636
type: ECO_0007645
has db xref: url:https://ghr.nlm.nih.gov/condition/paramyotonia-congenita
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/1316765

Axiom
annotated source: paramyotonia congenita of Von Eulenburg
annotated property: hasExactSynonym
annotated target: PMC
has synonym type: OMO_0003012

prolidase deficiency
type: Class
subclass of: DOID 9252
IAO_0000115: An amino acid metabolic disorder characterized by massive imidodipeptiduria, chronic and slowly healing ulcerations, recurrent infections, dysmorphic facial features, variable cognitive impairment, splenomegaly, and lack of or reduced prolidase activity that has_material_basis_in homozygous or compound heterozygous mutation in the PEPD gene on chromosome 19q13.11.
has db xref: GARD:7473
has db xref: MESH:D056732
has db xref: MIM:170100
has db xref: NCI:C85029
has db xref: ORDO:742
has db xref: SNOMEDCT_US_2023_03_01:360994007
has db xref: UMLS_CUI:C0268532
has exact synonym: hyperimidodipeptiduria
has exact synonym: imidodipeptidase deficiency
has exact synonym: peptidase deficiency
has OBO namespace: disease_ontology
id: DOID:0111540
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: prolidase deficiency
annotated property: IAO_0000115
annotated target: An amino acid metabolic disorder characterized by massive imidodipeptiduria, chronic and slowly healing ulcerations, recurrent infections, dysmorphic facial features, variable cognitive impairment, splenomegaly, and lack of or reduced prolidase activity that has_material_basis_in homozygous or compound heterozygous mutation in the PEPD gene on chromosome 19q13.11.
type: ECO_0007636
type: ECO_0007645
has db xref: url:https://ghr.nlm.nih.gov/condition/prolidase-deficiency
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/18340504
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/1972707

stiff skin syndrome
type: Class
subclass of: skin disease
IAO_0000115: A skin disease characterized by hard, thick skin, usually over the entire body, limiting joint mobility and causing flexion contractures that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21.1.
has db xref: GARD:5025
has db xref: MESH:C566112
has db xref: MIM:184900
has db xref: NCI:C118636
has db xref: ORDO:2833
has db xref: SNOMEDCT_US_2023_03_01:765187004
has db xref: UMLS_CUI:C1861456
has exact synonym: SSKS
has OBO namespace: disease_ontology
id: DOID:0111561
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: stiff skin syndrome
annotated property: IAO_0000115
annotated target: A skin disease characterized by hard, thick skin, usually over the entire body, limiting joint mobility and causing flexion contractures that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21.1.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/20375004

Axiom
annotated source: stiff skin syndrome
annotated property: hasExactSynonym
annotated target: SSKS
has synonym type: OMO_0003012

Sturge-Weber syndrome
type: Class
subclass of: vascular disease
IAO_0000115: A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in the GNAQ gene on chromosome 9q21.2.
has db xref: GARD:7706
has db xref: ICD10CM:Q85.89
has db xref: MESH:D013341
has db xref: MIM:185300
has db xref: NCI:C3391
has db xref: ORDO:3205
has db xref: SNOMEDCT_US_2023_03_01:157030004
has db xref: UMLS_CUI:C0038505
has exact synonym: SWS
has exact synonym: Sturge-Weber-Dimitri syndrome
has exact synonym: Sturge-Weber-Krabbe angiomatosis
has exact synonym: Sturge-Weber-Krabbe syndrome
has exact synonym: encephalofacial angiomatosis
has exact synonym: encephalotrigeminal angiomatosis
has exact synonym: fourth phacomatosis
has exact synonym: leptomeningeal angiomatosis
has exact synonym: meningeal capillary angiomatosis
has OBO namespace: disease_ontology
id: DOID:0111563
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Sturge-Weber syndrome
annotated property: IAO_0000115
annotated target: A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in the GNAQ gene on chromosome 9q21.2.
type: ECO_0007636
type: ECO_0007645
has db xref: url:https://ghr.nlm.nih.gov/condition/sturge-weber-syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/15165630
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/23656586

Axiom
annotated source: Sturge-Weber syndrome
annotated property: hasExactSynonym
annotated target: SWS
has synonym type: OMO_0003012

Behr syndrome
type: Class
subclass of: DOID 863
IAO_0000115: A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the OPA1 gene on chromosome 3q29.
has db xref: GARD:849
has db xref: MESH:C537669
has db xref: MIM:210000
has db xref: NCI:C177251
has db xref: SNOMEDCT_US_2023_03_01:66988006
has db xref: UMLS_CUI:C0221061
has exact synonym: Abortive cerebellar ataxia (BEHRS)
has exact synonym: BEHRS
has exact synonym: optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss
has exact synonym: optic atrophy, infantile hereditary, Behr complicated form of
has OBO namespace: disease_ontology
id: DOID:0111580
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Behr syndrome
annotated property: IAO_0000115
annotated target: A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the OPA1 gene on chromosome 3q29.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/6747661

Axiom
annotated source: Behr syndrome
annotated property: hasExactSynonym
annotated target: BEHRS
has synonym type: OMO_0003012

carboxypeptidase N deficiency
type: Class
subclass of: DOID 655
IAO_0000115: A plasma protein metabolism disease characterized by low levels of carboxypeptidase N in the serum that may result in episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity that has_material_basis_in homozygous or compound heterozygous mutation in the CPN1 gene on chromosome 10q24.2.
has db xref: MESH:C562876
has db xref: MIM:212070
has db xref: NCI:C132196
has db xref: SNOMEDCT_US_2023_03_01:234627009
has db xref: UMLS_CUI:C0398782
has exact synonym: anaphylotoxin inactivator deficiency
has exact synonym: deficiency of carboxypeptidase B
has OBO namespace: disease_ontology
id: DOID:0111583
in subset: NCIthesaurus

Axiom
annotated source: carboxypeptidase N deficiency
annotated property: IAO_0000115
annotated target: A plasma protein metabolism disease characterized by low levels of carboxypeptidase N in the serum that may result in episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity that has_material_basis_in homozygous or compound heterozygous mutation in the CPN1 gene on chromosome 10q24.2.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/12560874
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/7437116

dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.
has db xref: GARD:3373
has db xref: MESH:C535580
has db xref: MESH:C535703
has db xref: MIM:212112
has db xref: NCI:C174217
has db xref: ORDO:2229
has db xref: SNOMEDCT_US_2023_03_01:719451006
has db xref: UMLS_CUI:C0796031
has db xref: UMLS_CUI:C0796083
has exact synonym: Malouf syndrome
has exact synonym: Najjar syndrome
has exact synonym: cardiogenital syndrome
has exact synonym: cardiomyopathy eith primary testicular failure
has exact synonym: congestive cardiomyopathy with hypergonadotropic hypogonadism
has exact synonym: dilated cardiomyopathy with hypergonadotropic hypogonadism
has exact synonym: dilated cardiomyopathy with premature ovarian failure
has exact synonym: genital anomaly with cardiomyopathy
has OBO namespace: disease_ontology
id: DOID:0111584
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/12927431
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/19283854

carnitine-acylcarnitine translocase deficiency
type: Class
subclass of: DOID 655
IAO_0000115: A lipid metabolism disorder characterized by impaired long-chain fatty acid ozidation resulting in fasting-induced hypoketotic hypoglycemia, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A20 gene on chromosome 3p21.31.
has db xref: GARD:1123
has db xref: MESH:C562812
has db xref: MIM:212138
has db xref: NCI:C133086
has db xref: ORDO:159
has db xref: SNOMEDCT_US_2023_03_01:238003000
has db xref: UMLS_CUI:C0342791
has exact synonym: CACT deficiency
has exact synonym: CACTD
has OBO namespace: disease_ontology
id: DOID:0111585
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: carnitine-acylcarnitine translocase deficiency
annotated property: IAO_0000115
annotated target: A lipid metabolism disorder characterized by impaired long-chain fatty acid ozidation resulting in fasting-induced hypoketotic hypoglycemia, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A20 gene on chromosome 3p21.31.
type: ECO_0007636
type: ECO_0007645
has db xref: url:https://ghr.nlm.nih.gov/condition/carnitine-acylcarnitine-translocase-deficiency
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/15363639
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/9399886

Axiom
annotated source: carnitine-acylcarnitine translocase deficiency
annotated property: hasExactSynonym
annotated target: CACTD
has synonym type: OMO_0003012

congenital contractural arachnodactyly
type: Class
subclass of: musculoskeletal system disease
IAO_0000115: A distal arthrogryposis characterized by contractures, arachnodactyly, scoliosis, and crumpled ears that has_material_basis_in heterozygous mutation in the FBN2 gene on chromosome 5q23.3.
has db xref: MESH:C536211
has db xref: MIM:121050
has db xref: NCI:C129865
has db xref: ORDO:115
has db xref: SNOMEDCT_US_2023_03_01:205821003
has db xref: UMLS_CUI:C0220668
has exact synonym: Beals syndrome
has exact synonym: Beals-Hecht syndrome
has exact synonym: CCA
has exact synonym: arachnodactyly, contractural Beals type
has exact synonym: contractures, multiple with arachnodactyly
has exact synonym: distal arthrogryposis type 9
has exact synonym: ear anomalies-contractures-dysplasia of bone with kyphoscoliosis
has OBO namespace: disease_ontology
id: DOID:0111595
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: congenital contractural arachnodactyly
annotated property: IAO_0000115
annotated target: A distal arthrogryposis characterized by contractures, arachnodactyly, scoliosis, and crumpled ears that has_material_basis_in heterozygous mutation in the FBN2 gene on chromosome 5q23.3.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/4552107
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/9106527
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/9714438

Axiom
annotated source: congenital contractural arachnodactyly
annotated property: hasExactSynonym
annotated target: CCA
has synonym type: OMO_0003012

Freeman-Sheldon syndrome
type: Class
subclass of: musculoskeletal system disease
IAO_0000115: A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures.
has db xref: ICD10CM:Q87.0
has db xref: MESH:C535483
has db xref: NCI:C98931
has db xref: ORDO:2053
has db xref: SNOMEDCT_US_2021_09_01:52616002
has exact synonym: craniocarpotarsal dysplasia
has exact synonym: craniocarpotarsal dystrophy
has exact synonym: whistling face syndrome
has exact synonym: whistling face-windmill vane hand syndrome
has OBO namespace: disease_ontology
id: DOID:0111604
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Freeman-Sheldon syndrome
annotated property: IAO_0000115
annotated target: A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures.
type: ECO_0007636
type: ECO_0007645
has db xref: url:https://ghr.nlm.nih.gov/condition/freeman-sheldon-syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/19571066
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/21032118

Temtamy syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities including partial or complete absence of the corpus callosum that has_material_basis_in [zygosity of] mutation in the C12ORF57 gene on chromosome 12p13.31.
has db xref: GARD:5688
has db xref: MESH:C536959
has db xref: MIM:218340
has db xref: NCI:C148371
has db xref: ORDO:1777
has db xref: SNOMEDCT_US_2023_03_01:719947004
has db xref: UMLS_CUI:C1857512
has exact synonym: Temtamy-Shalash syndrome
has exact synonym: craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation
has exact synonym: craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome
has exact synonym: dysmorphism, corpus callosum agenesis and colobomas
has OBO namespace: disease_ontology
id: DOID:0111621
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Temtamy syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities including partial or complete absence of the corpus callosum that has_material_basis_in [zygosity of] mutation in the C12ORF57 gene on chromosome 12p13.31.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/23453666

congenital sucrase-isomaltase deficiency
type: Class
subclass of: carbohydrate metabolic disorder
IAO_0000115: A carbohydrate metabolic disorder characterized by malabsorption of oligosaccharides and disaccharides that has_material_basis_in homozygous or compound heterozygous mutation in SI on chromosome 3q26.1.
has db xref: GARD:7710
has db xref: ICD10CM:E74.31
has db xref: MEDDRA:10066387
has db xref: MESH:C538139
has db xref: MIM:222900
has db xref: NCI:C128190
has db xref: ORDO:35122
has db xref: SNOMEDCT_US_2023_03_01:78373000
has db xref: UMLS_CUI:C1283620
has exact synonym: CSID
has exact synonym: SI deficiency
has exact synonym: congenital sucrase-isomaltose malabsorption
has exact synonym: congenital sucrose intolerance
has exact synonym: disaccharide intolerance
has OBO namespace: disease_ontology
id: DOID:0111633
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: congenital sucrase-isomaltase deficiency
annotated property: IAO_0000115
annotated target: A carbohydrate metabolic disorder characterized by malabsorption of oligosaccharides and disaccharides that has_material_basis_in homozygous or compound heterozygous mutation in SI on chromosome 3q26.1.
type: ECO_0007636
type: ECO_0007645
has db xref: url:https://ghr.nlm.nih.gov/condition/congenital-sucrase-isomaltase-deficiency
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/3925457

Axiom
annotated source: congenital sucrase-isomaltase deficiency
annotated property: hasExactSynonym
annotated target: CSID
has synonym type: OMO_0003012

ectodermal dysplasia 1
type: Class
subclass of: hypohidrotic ectodermal dysplasia
IAO_0000115: A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1.
has db xref: MESH:D053358
has db xref: MIM:305100
has db xref: NCI:C84562
has db xref: ORDO:181
has db xref: SNOMEDCT_US_2023_03_01:239007005
has db xref: UMLS_CUI:C0162359
has exact synonym: CST syndrome
has exact synonym: Christ-Siemens-Touraine syndrome
has exact synonym: ED1
has exact synonym: HED1
has exact synonym: X-linked anhidrotic ectodermal dysplasia
has exact synonym: XHED
has exact synonym: XLHED
has exact synonym: ectodermal dysplasia 1, anhidrotic
has exact synonym: ectodermal dysplasia 1, hypohidrotic, X-linked
has exact synonym: ectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linked
has exact synonym: hypohidrotic ectodermal dysplasia, X-Linked
has OBO namespace: disease_ontology
id: DOID:0111664
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: ectodermal dysplasia 1
annotated property: IAO_0000115
annotated target: A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/8434608

Axiom
annotated source: ectodermal dysplasia 1
annotated property: hasExactSynonym
annotated target: ED1
has synonym type: OMO_0003012

Axiom
annotated source: ectodermal dysplasia 1
annotated property: hasExactSynonym
annotated target: HED1
has synonym type: OMO_0003012

Axiom
annotated source: ectodermal dysplasia 1
annotated property: hasExactSynonym
annotated target: XHED
has synonym type: OMO_0003012

Axiom
annotated source: ectodermal dysplasia 1
annotated property: hasExactSynonym
annotated target: XLHED
has synonym type: OMO_0003012

hyaline fibromatosis syndrome
type: Class
subclass of: DOID 65
IAO_0000115: A connective tissue disease characterized by abnormal growth of hyalinized fibrous tissue especially around the subcutaneous regions on the scalp, ears, neck, face, hands, and feet, gingival hypertrophy, joint contractures, and osteolytic bone lesions that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR2 gene on chromosome 4q21.21.
has db xref: MESH:D057770
has db xref: MIM:228600
has db xref: NCI:C98297
has db xref: ORDO:498474
has db xref: SNOMEDCT_US_2023_03_01:238861002
has db xref: UMLS_CUI:C2745948
has exact synonym: HFS
has exact synonym: inherited systemic hyalinosis
has exact synonym: puretic syndrome
has exact synonym: systemic hyalinosis
has OBO namespace: disease_ontology
id: DOID:0111669
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: hyaline fibromatosis syndrome
annotated property: IAO_0000115
annotated target: A connective tissue disease characterized by abnormal growth of hyalinized fibrous tissue especially around the subcutaneous regions on the scalp, ears, neck, face, hands, and feet, gingival hypertrophy, joint contractures, and osteolytic bone lesions that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR2 gene on chromosome 4q21.21.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/22383261

Axiom
annotated source: hyaline fibromatosis syndrome
annotated property: hasExactSynonym
annotated target: HFS
has synonym type: OMO_0003012

primary hyperoxaluria type 1
type: Class
subclass of: primary hyperoxaluria
IAO_0000115: A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumulation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in the AGXT gene on chromosome 2q37.3.
has db xref: GARD:2835
has db xref: MESH:C536414
has db xref: MIM:259900
has db xref: NCI:C123212
has db xref: ORDO:93598
has db xref: SNOMEDCT_US_2023_03_01:65520001
has db xref: UMLS_CUI:C0268164
has exact synonym: HP1
has exact synonym: alanine-glyoxylate aminotransferase deficiency
has exact synonym: glycolic aciduria
has exact synonym: hepatic AGT deficiency
has exact synonym: oxalosis I
has exact synonym: peroxisomal alanine-glyoxylate aminotransferase deficiency
has exact synonym: serine pyruvate aminotransferase deficiency
has OBO namespace: disease_ontology
id: DOID:0111670
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: primary hyperoxaluria type 1
annotated property: IAO_0000115
annotated target: A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumulation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in the AGXT gene on chromosome 2q37.3.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/19479957
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/2039493

Axiom
annotated source: primary hyperoxaluria type 1
annotated property: hasExactSynonym
annotated target: HP1
has synonym type: OMO_0003012

primary hyperoxaluria type 2
type: Class
subclass of: primary hyperoxaluria
IAO_0000115: A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the GRHPR gene on chromosome 9p13.2.
has db xref: GARD:2836
has db xref: MESH:C536415
has db xref: MIM:260000
has db xref: NCI:C123213
has db xref: ORDO:93599
has db xref: SNOMEDCT_US_2023_03_01:40951006
has db xref: UMLS_CUI:C0268165
has exact synonym: D-glycerate dehydrogenase deficiency
has exact synonym: HP2
has exact synonym: L-glyceric aciduria
has exact synonym: glyoxylate reductase/hydroxypyruvate reductase deficiency
has exact synonym: oxalosis II
has OBO namespace: disease_ontology
id: DOID:0111671
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: primary hyperoxaluria type 2
annotated property: IAO_0000115
annotated target: A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the GRHPR gene on chromosome 9p13.2.
type: ECO_0007645
type: ECO_0007646
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK2692/
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/10484776

Axiom
annotated source: primary hyperoxaluria type 2
annotated property: hasExactSynonym
annotated target: HP2
has synonym type: OMO_0003012

primary hyperoxaluria type 3
type: Class
subclass of: primary hyperoxaluria
IAO_0000115: A primary hyperoxaluria characterized by recurring calcium oxalate stones that has_material_basis_in homozygous or compound heterozygous mutation in the HOGA1 gene on chromosome 10q24.2.
has db xref: GARD:10738
has db xref: MIM:613616
has db xref: NCI:C123214
has db xref: ORDO:93600
has db xref: SNOMEDCT_US_2023_03_01:734990008
has db xref: UMLS_CUI:C3150878
has exact synonym: HP3
has exact synonym: PH III
has exact synonym: primary hyperoxaluria type III
has OBO namespace: disease_ontology
id: DOID:0111672
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: primary hyperoxaluria type 3
annotated property: IAO_0000115
annotated target: A primary hyperoxaluria characterized by recurring calcium oxalate stones that has_material_basis_in homozygous or compound heterozygous mutation in the HOGA1 gene on chromosome 10q24.2.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK316514/
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/26340091

Axiom
annotated source: primary hyperoxaluria type 3
annotated property: hasExactSynonym
annotated target: HP3
has synonym type: OMO_0003012

Axiom
annotated source: primary hyperoxaluria type 3
annotated property: hasExactSynonym
annotated target: PH III
has synonym type: OMO_0003012

high molecular weight kininogen deficiency
type: Class
subclass of: blood coagulation disease
IAO_0000115: A blood coagulation disease characterized by deficiency of high molecular weight kininogen but not of low molecular weight kininogen resulting in abnormal surface-mediated activation of fibrinolysis that has_material_basis_in homozygous or compound heterozygous mutation in the KNG1 gene on chromosome 3q27.3. Both high and low molecular weight kininogen are encoded by the KNG1 gene.
has db xref: GARD:2684
has db xref: MESH:C537060
has db xref: MIM:228960
has db xref: NCI:C98946
has db xref: ORDO:483
has db xref: SNOMEDCT_US_2023_03_01:27312002
has db xref: UMLS_CUI:C0272340
has exact synonym: Fitzgerald trait
has exact synonym: HMWK deficiency
has exact synonym: congenital high-molecular-weight kininogen deficiency
has OBO namespace: disease_ontology
id: DOID:0111676
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: high molecular weight kininogen deficiency
annotated property: IAO_0000115
annotated target: A blood coagulation disease characterized by deficiency of high molecular weight kininogen but not of low molecular weight kininogen resulting in abnormal surface-mediated activation of fibrinolysis that has_material_basis_in homozygous or compound heterozygous mutation in the KNG1 gene on chromosome 3q27.3. Both high and low molecular weight kininogen are encoded by the KNG1 gene.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/12576314
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/2989293

hereditary folate malabsorption
type: Class
subclass of: DOID 655
IAO_0000115: A vitamin metabolic disorder characterized by impaired intestinal folate absorption and impaired transport of folate into the central nervous system resulting in megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the SLC46A1 gene on chromosome 17q11.2.
has db xref: GARD:12983
has db xref: MESH:C562799
has db xref: MIM:229050
has db xref: NCI:C156424
has db xref: ORDO:90045
has db xref: SNOMEDCT_US_2023_03_01:62578003
has db xref: UMLS_CUI:C0342705
has exact synonym: congenital defect of folate absorption
has exact synonym: congenital folate malabsorption
has OBO namespace: disease_ontology
id: DOID:0111678
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: hereditary folate malabsorption
annotated property: IAO_0000115
annotated target: A vitamin metabolic disorder characterized by impaired intestinal folate absorption and impaired transport of folate into the central nervous system resulting in megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the SLC46A1 gene on chromosome 17q11.2.
type: ECO_0007636
type: ECO_0007645
has db xref: url:https://ghr.nlm.nih.gov/condition/hereditary-folate-malabsorption
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/17129779

Potocki-Shaffer syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina that has_material_basis_in heterozygosity for a contiguous gene deletion on chromosome 11p11.2.
has db xref: GARD:9762
has db xref: MESH:C538356
has db xref: MIM:601224
has db xref: NCI:C75456
has db xref: ORDO:52022
has db xref: SNOMEDCT_US_2023_03_01:702346005
has db xref: UMLS_CUI:C1832588
has exact synonym: 11p11.2 deletion
has exact synonym: PSS
has exact synonym: proximal 11p deletion syndrome
has OBO namespace: disease_ontology
id: DOID:0111687
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Potocki-Shaffer syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina that has_material_basis_in heterozygosity for a contiguous gene deletion on chromosome 11p11.2.
type: ECO_0007636
type: ECO_0007645
has db xref: url:https://ghr.nlm.nih.gov/condition/potocki-shaffer-syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/20140962
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/8644736

Axiom
annotated source: Potocki-Shaffer syndrome
annotated property: hasExactSynonym
annotated target: PSS
has synonym type: OMO_0003012

chromosome 2q37 deletion syndrome
type: Class
subclass of: DOID 630
IAO_0000115: A chromosomal deletion syndrome characterized by variable features, likely resulting from different sized deletions, including; brachydactyly type E, short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features that has_material_basis_in heterozygosity for a contiguous deletion of several genes on chromosome 2q37.2.
has db xref: MESH:C538317
has db xref: MIM:600430
has db xref: NCI:C129021
has db xref: ORDO:1001
has db xref: SNOMEDCT_US_2023_03_01:702357000
has db xref: UMLS_CUI:C2931817
has exact synonym: 2q37 microdeletion syndrome
has exact synonym: Albright hereditary osteodystrophy type 3
has exact synonym: Albright hereditary osteodystrophy-like syndrome
has exact synonym: Albright's hereditary osteodystrophy-like syndrome
has exact synonym: BDMR
has exact synonym: Brachydactyly-intellectual disability syndrome
has exact synonym: Del(2)(q37)
has exact synonym: deletion 2q37
has exact synonym: monosomy 2q37qter
has OBO namespace: disease_ontology
id: DOID:0111704
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: chromosome 2q37 deletion syndrome
annotated property: IAO_0000115
annotated target: A chromosomal deletion syndrome characterized by variable features, likely resulting from different sized deletions, including; brachydactyly type E, short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features that has_material_basis_in heterozygosity for a contiguous deletion of several genes on chromosome 2q37.2.
type: ECO_0007636
type: ECO_0007645
has db xref: url:https://ghr.nlm.nih.gov/condition/2q37-deletion-syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/23188045
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/24715439
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/25402011

Axiom
annotated source: chromosome 2q37 deletion syndrome
annotated property: hasExactSynonym
annotated target: BDMR
has synonym type: OMO_0003012

Temple syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by low birth weight, hypotonia and motor delay, feeding problems early in life, early puberty, and significantly reduced final height that has_material_basis_in heterozygous mutation in an impriniting region on chromosome 14q32.
has db xref: MIM:616222
has db xref: NCI:C120409
has db xref: ORDO:254516
has db xref: SNOMEDCT_US_2023_03_01:778012003
has db xref: UMLS_CUI:C4015558
has OBO namespace: disease_ontology
id: DOID:0111713
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Temple syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by low birth weight, hypotonia and motor delay, feeding problems early in life, early puberty, and significantly reduced final height that has_material_basis_in heterozygous mutation in an impriniting region on chromosome 14q32.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/18454453
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/24891339

cryptophthalmia
type: Class
subclass of: disease
IAO_0000115: A physical disorder characterized by ocular dysplasia with eyelid malformation.
has db xref: ICD10CM:Q11.2
has db xref: ICD9CM:743.06
has db xref: NCI:C124520
has db xref: ORDO:98562
has db xref: SNOMEDCT_US_2023_03_01:62589005
has db xref: UMLS_CUI:C0311249
has exact synonym: cryptophthalmos
has OBO namespace: disease_ontology
id: DOID:0111716
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: cryptophthalmia
annotated property: IAO_0000115
annotated target: A physical disorder characterized by ocular dysplasia with eyelid malformation.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/30802441

familial episodic pain syndrome 3
type: Class
subclass of: DOID 870
IAO_0000115: A familial episodic pain syndrome characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes also the upper extremities, with pain cycles lasting several days and exacerbated by fatigue that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22.
has db xref: MIM:615552
has db xref: NCI:C125390
has db xref: ORDO:391392
has exact synonym: FEPS3
has OBO namespace: disease_ontology
id: DOID:0111731
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: familial episodic pain syndrome 3
annotated property: IAO_0000115
annotated target: A familial episodic pain syndrome characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes also the upper extremities, with pain cycles lasting several days and exacerbated by fatigue that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/24207120

Axiom
annotated source: familial episodic pain syndrome 3
annotated property: hasExactSynonym
annotated target: FEPS3
has synonym type: OMO_0003012

X-linked cardiac valvular dysplasia
type: Class
subclass of: heart valve disease
IAO_0000115: A heart valve disease characterized by multivalvular dysplasia and regurgitation with more severe phenotypes in hemizygous males compared to heterozygous females that has_material_basis_in mutation in the FLNA gene on chromosome Xq28.
has db xref: MESH:C536197
has db xref: MIM:314400
has db xref: NCI:C141423
has db xref: ORDO:555877
has db xref: SNOMEDCT_US_2023_03_01:67202007
has db xref: UMLS_CUI:C0268341
has exact synonym: CVD1
has exact synonym: Dystrophie valvulaire associee a FLNA
has exact synonym: EDS5
has exact synonym: Ehlers-Danlos syndrome, type 5
has exact synonym: FLNA-related X-linked myxomatous valvular dysplasia
has exact synonym: FLNA-related valvular dystrophy
has exact synonym: Filamin A-related X-linked myxomatous valvular dysplasia
has exact synonym: XMVD
has OBO namespace: disease_ontology
id: DOID:0111765
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: X-linked cardiac valvular dysplasia
annotated property: IAO_0000115
annotated target: A heart valve disease characterized by multivalvular dysplasia and regurgitation with more severe phenotypes in hemizygous males compared to heterozygous females that has_material_basis_in mutation in the FLNA gene on chromosome Xq28.
type: ECO_0007636
type: ECO_0007645
has db xref: url:https://ghr.nlm.nih.gov/condition/x-linked-cardiac-valvular-dysplasia
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/17190868

Axiom
annotated source: X-linked cardiac valvular dysplasia
annotated property: hasExactSynonym
annotated target: CVD1
has synonym type: OMO_0003012

Axiom
annotated source: X-linked cardiac valvular dysplasia
annotated property: hasExactSynonym
annotated target: EDS5
has synonym type: OMO_0003012

Axiom
annotated source: X-linked cardiac valvular dysplasia
annotated property: hasExactSynonym
annotated target: XMVD
has synonym type: OMO_0003012

X-linked thrombocytopenia with beta-thalassemia
type: Class
subclass of: DOID 74
IAO_0000115: A hematopoietic system disease characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis resulting in imbalance between the alpha and beta chains that has_material_basis_in homozygous or hemizygous missense mutation in the DNA binding domain of the GATA1 gene on chromosome Xp11.23.
has db xref: MESH:C564050
has db xref: MIM:314050
has db xref: NCI:C134941
has db xref: ORDO:231393
has db xref: SNOMEDCT_US_2023_03_01:718196002
has db xref: UMLS_CUI:C1839161
has exact synonym: GATA1-related X-linked cytopenia
has exact synonym: XLTT
has exact synonym: beta-thalassemia-X-linked thrombocytopenia syndrome
has exact synonym: thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis
has OBO namespace: disease_ontology
id: DOID:0111767
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: X-linked thrombocytopenia with beta-thalassemia
annotated property: IAO_0000115
annotated target: A hematopoietic system disease characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis resulting in imbalance between the alpha and beta chains that has_material_basis_in homozygous or hemizygous missense mutation in the DNA binding domain of the GATA1 gene on chromosome Xp11.23.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/18930124
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/22102271

Axiom
annotated source: X-linked thrombocytopenia with beta-thalassemia
annotated property: hasExactSynonym
annotated target: XLTT
has synonym type: OMO_0003012

otopalatodigital syndrome type 1
type: Class
subclass of: DOID 65
IAO_0000115: An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4, or 5 of the FLNA gene on chromosome Xq28.
has db xref: GARD:5121
has db xref: MESH:C536065
has db xref: MIM:311300
has db xref: NCI:C118845
has db xref: ORDO:90650
has db xref: SNOMEDCT_US_2023_03_01:54036001
has db xref: UMLS_CUI:C0265251
has exact synonym: OPD I syndrome
has exact synonym: OPD syndrome 1
has exact synonym: OPD1
has exact synonym: Taybi syndrome
has exact synonym: oto-palato-digital syndrome type 1
has exact synonym: otopalatodigital syndrome type I
has OBO namespace: disease_ontology
id: DOID:0111783
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: otopalatodigital syndrome type 1
annotated property: IAO_0000115
annotated target: An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4, or 5 of the FLNA gene on chromosome Xq28.
type: ECO_0007645
type: ECO_0007646
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/12612583
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/20301567

Axiom
annotated source: otopalatodigital syndrome type 1
annotated property: hasExactSynonym
annotated target: OPD1
has synonym type: OMO_0003012

Keipert syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by craniofacial and digital abnormalities, mild to severe congenital sensorineural hearing loss, and variable learning difficulties that has_material_basis_in hemizygous mutation in the GPC4 gene on chromosome Xq26.2.
has db xref: GARD:267
has db xref: MESH:C538337
has db xref: MIM:301026
has db xref: NCI:C186306
has db xref: ORDO:2662
has db xref: SNOMEDCT_US_2023_03_01:763774001
has db xref: UMLS_CUI:C1850627
has exact synonym: KPTS
has exact synonym: nasodigitoacoustic syndrome
has OBO namespace: disease_ontology
id: DOID:0111842
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Keipert syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by craniofacial and digital abnormalities, mild to severe congenital sensorineural hearing loss, and variable learning difficulties that has_material_basis_in hemizygous mutation in the GPC4 gene on chromosome Xq26.2.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/30982611

Axiom
annotated source: Keipert syndrome
annotated property: hasExactSynonym
annotated target: KPTS
has synonym type: OMO_0003012

trichothiodystrophy
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by sparse, brittle, sulfur-deficient hair that is easily broken and in more severe cases delayed development, significant intellectual disability, and recurrent infections.
has db xref: MESH:D054463
has db xref: MIM:PS601675
has db xref: NCI:C4924
has db xref: ORDO:33364
has db xref: SNOMEDCT_US_2023_03_01:723551003
has db xref: UMLS_CUI:C1955934
has exact synonym: TTD
has OBO namespace: disease_ontology
id: DOID:0111866
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: trichothiodystrophy
annotated property: IAO_0000115
annotated target: A syndrome characterized by sparse, brittle, sulfur-deficient hair that is easily broken and in more severe cases delayed development, significant intellectual disability, and recurrent infections.
type: ECO_0007636
type: ECO_0007645
has db xref: url:https://ghr.nlm.nih.gov/condition/trichothiodystrophy
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/18603627/

Axiom
annotated source: trichothiodystrophy
annotated property: hasExactSynonym
annotated target: TTD
has synonym type: OMO_0003012

nonphotosensitive trichothiodystrophy 5
type: Class
subclass of: trichothiodystrophy
IAO_0000115: A nonphotosensitive trichothiodystrophy characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities that has_material_basis_in hemizygous mutation in the RNF113A gene on chromosome Xq24.
has db xref: MESH:D054463
has db xref: MIM:300953
has db xref: NCI:C156433
has exact synonym: TTD5
has OBO namespace: disease_ontology
id: DOID:0111868
in subset: NCIthesaurus

Axiom
annotated source: nonphotosensitive trichothiodystrophy 5
annotated property: IAO_0000115
annotated target: A nonphotosensitive trichothiodystrophy characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities that has_material_basis_in hemizygous mutation in the RNF113A gene on chromosome Xq24.
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/25612912/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/31880405/

Axiom
annotated source: nonphotosensitive trichothiodystrophy 5
annotated property: hasExactSynonym
annotated target: TTD5
has synonym type: OMO_0003012

photosensitive trichothiodystrophy 1
type: Class
subclass of: photosensitive trichothiodystrophy
IAO_0000115: A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC2 gene on chromosome 19q13.32.
has db xref: MIM:601675
has db xref: NCI:C156433
has exact synonym: TTD1
has OBO namespace: disease_ontology
id: DOID:0111873
in subset: NCIthesaurus

Axiom
annotated source: photosensitive trichothiodystrophy 1
annotated property: IAO_0000115
annotated target: A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC2 gene on chromosome 19q13.32.
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/9195225/

Axiom
annotated source: photosensitive trichothiodystrophy 1
annotated property: hasExactSynonym
annotated target: TTD1
has synonym type: OMO_0003012

severe congenital encephalopathy due to MECP2 mutation
type: Class
subclass of: DOID 936
IAO_0000115: A brain disease characterized by severe neonatal encephalopathy, developmental delay, and microcephaly that has_material_basis_in hemizygous mutation in the MECP2 gene on chromosome Xq28.
has db xref: MESH:C566878
has db xref: MIM:300673
has db xref: NCI:C132293
has db xref: ORDO:209370
has db xref: SNOMEDCT_US_2023_03_01:711487002
has db xref: UMLS_CUI:C1968556
has exact synonym: neonatal severe encephalopathy due to MECP2 mutations
has exact synonym: severe neonatal-onset encephalopathy with microcephaly
has OBO namespace: disease_ontology
id: DOID:0111932
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: severe congenital encephalopathy due to MECP2 mutation
annotated property: IAO_0000115
annotated target: A brain disease characterized by severe neonatal encephalopathy, developmental delay, and microcephaly that has_material_basis_in hemizygous mutation in the MECP2 gene on chromosome Xq28.
type: ECO_0007636
type: ECO_0007645
has db xref: url:https://ghr.nlm.nih.gov/condition/mecp2-related-severe-neonatal-encephalopathy
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/12615169/

phosphoglycerate kinase 1 deficiency
type: Class
subclass of: glucose metabolism disease
IAO_0000115: A glucose metabolism disease characterized by impaired ability to break down glucose resulting in the variable presentation of hemolytic anemia, myopathy, and neurologic anomalies that has_material_basis_in hemizygous or homozygous mutation in the PGK1 gene on chromosome Xq21.1.
has db xref: GARD:7389
has db xref: MESH:C567067
has db xref: MIM:300653
has db xref: NCI:C126738
has db xref: ORDO:713
has db xref: UMLS_CUI:C1970848
has exact synonym: GSD due to phosphoglycerate kinase 1 deficiency
has exact synonym: PGK1 deficiency
has exact synonym: glycogen storage disease due to phosphoglycerate kinase 1 deficiency
has exact synonym: glycogenosis due to phosphoglycerate kinase 1 deficiency
has OBO namespace: disease_ontology
id: DOID:0111933
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: phosphoglycerate kinase 1 deficiency
annotated property: IAO_0000115
annotated target: A glucose metabolism disease characterized by impaired ability to break down glucose resulting in the variable presentation of hemolytic anemia, myopathy, and neurologic anomalies that has_material_basis_in hemizygous or homozygous mutation in the PGK1 gene on chromosome Xq21.1.
type: ECO_0007636
type: ECO_0007645
has db xref: url:https://ghr.nlm.nih.gov/condition/phosphoglycerate-kinase-deficiency
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/16567715/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/4230542/

immunodeficiency 14
type: Class
subclass of: DOID 628
IAO_0000115: A combined T cell and B cell immunodeficiency characterized by B- and T-cell abnormalities and onset of recurrent sinopulmonary and other infections in early childhood that has_material_basis_in heterozygous activating mutation in the PIK3CD gene on chromosome 1p36.22.
has db xref: GARD:11983
has db xref: MESH:C585640
has db xref: MIM:615513
has db xref: NCI:C187988
has db xref: ORDO:397596
has db xref: SNOMEDCT_US_2023_03_01:711480000
has db xref: UMLS_CUI:C3714976
has exact synonym: APDS
has exact synonym: IMD14
has exact synonym: PASLI disease
has exact synonym: activated PI3K-delta syndrome
has exact synonym: senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation
has OBO namespace: disease_ontology
id: DOID:0111936
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: immunodeficiency 14
annotated property: IAO_0000115
annotated target: A combined T cell and B cell immunodeficiency characterized by B- and T-cell abnormalities and onset of recurrent sinopulmonary and other infections in early childhood that has_material_basis_in heterozygous activating mutation in the PIK3CD gene on chromosome 1p36.22.
type: ECO_0007636
type: ECO_0007645
has db xref: url:https://ghr.nlm.nih.gov/condition/activated-pi3k-delta-syndrome
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/24165795/

Axiom
annotated source: immunodeficiency 14
annotated property: hasExactSynonym
annotated target: APDS
has synonym type: OMO_0003012

Axiom
annotated source: immunodeficiency 14
annotated property: hasExactSynonym
annotated target: IMD14
has synonym type: OMO_0003012

immunodeficiency 22
type: Class
subclass of: DOID 627
IAO_0000115: A severe combined immunodeficiency characterized by severe combined immunodeficiency, selective CD4 lymphopenia, and lack of CD28 expression on CD8+ T cells that has_material_basis_in homozygous or compound heterozygous mutation in the LCK gene on chromosome 1p35.2.
has db xref: MIM:615758
has db xref: NCI:C176808
has db xref: ORDO:280142
has db xref: UMLS_CUI:C4014233
has exact synonym: IMD22
has exact synonym: SCID due to LCK deficiency
has exact synonym: SCID due to lymphocyte-specific protein tyrosine kinase deficiency
has exact synonym: severe combined immunodeficiency due to LCK deficiency
has exact synonym: severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency
has OBO namespace: disease_ontology
id: DOID:0111937
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: immunodeficiency 22
annotated property: IAO_0000115
annotated target: A severe combined immunodeficiency characterized by severe combined immunodeficiency, selective CD4 lymphopenia, and lack of CD28 expression on CD8+ T cells that has_material_basis_in homozygous or compound heterozygous mutation in the LCK gene on chromosome 1p35.2.
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/9664084/

Axiom
annotated source: immunodeficiency 22
annotated property: hasExactSynonym
annotated target: IMD22
has synonym type: OMO_0003012

immunodeficiency 21
type: Class
subclass of: DOID 612
IAO_0000115: A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in the GATA2 gene on chromosome 3q21.3.
has db xref: GARD:10934
has db xref: MESH:D000077428
has db xref: MIM:614172
has db xref: NCI:C126349
has db xref: ORDO:228423
has exact synonym: DCML
has exact synonym: GATA2 deficiency
has exact synonym: IMD21
has exact synonym: MonoMAC
has exact synonym: combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections
has exact synonym: dendritic cell, monocyte, B and NK lymphoid deficiency
has exact synonym: monocyte-B-natural killer-dendritic cell deficiency syndrome
has exact synonym: monocytopenia and mycobacterial infection syndrome
has exact synonym: monocytopenia with susceptibility to infections
has OBO namespace: disease_ontology
id: DOID:0111947
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: immunodeficiency 21
annotated property: IAO_0000115
annotated target: A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in the GATA2 gene on chromosome 3q21.3.
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/21242295/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/21670465/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/24227816/

Axiom
annotated source: immunodeficiency 21
annotated property: hasExactSynonym
annotated target: DCML
has synonym type: OMO_0003012

Axiom
annotated source: immunodeficiency 21
annotated property: hasExactSynonym
annotated target: IMD21
has synonym type: OMO_0003012

Axiom
annotated source: immunodeficiency 21
annotated property: hasExactSynonym
annotated target: MonoMAC
has synonym type: OMO_0003012

immunodeficiency 36
type: Class
subclass of: DOID 628
IAO_0000115: A combined T cell and B cell immunodeficiency characterized by infantile or childhood onset of recurrent bacterial respiratory tract infections, lymphoproliferation, variable antibody deficiency (sometimes with hyper IgM), chronic viral infection (EBV, CMV), and autoimmunity that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13.
has db xref: MIM:616005
has db xref: NCI:C176703
has db xref: UMLS_CUI:C4014934
has exact synonym: IMD36
has exact synonym: activated phosphoinositide 3-kinase delta syndrome 2
has exact synonym: immunodeficiency-36 with lymphoproliferation
has OBO namespace: disease_ontology
id: DOID:0111949
in subset: NCIthesaurus

Axiom
annotated source: immunodeficiency 36
annotated property: IAO_0000115
annotated target: A combined T cell and B cell immunodeficiency characterized by infantile or childhood onset of recurrent bacterial respiratory tract infections, lymphoproliferation, variable antibody deficiency (sometimes with hyper IgM), chronic viral infection (EBV, CMV), and autoimmunity that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13.
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/39714594/

Axiom
annotated source: immunodeficiency 36
annotated property: hasExactSynonym
annotated target: IMD36
has synonym type: OMO_0003012

immunodeficiency 40
type: Class
subclass of: DOID 628
IAO_0000115: A combined T cell and B cell immunodeficiency characterized by reduced T-cell number and function, with variable defects in B-cell and NK-cell function resulting in onset in early childhood of invasive bacterial and viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK2 gene on chromosome 5q35.1.
has db xref: GARD:12653
has db xref: MIM:616433
has db xref: NCI:C176799
has db xref: ORDO:447737
has db xref: SNOMEDCT_US_2023_03_01:1197479002
has db xref: UMLS_CUI:C4225328
has exact synonym: DOCK2 deficiency
has exact synonym: IMD40
has OBO namespace: disease_ontology
id: DOID:0111951
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: immunodeficiency 40
annotated property: IAO_0000115
annotated target: A combined T cell and B cell immunodeficiency characterized by reduced T-cell number and function, with variable defects in B-cell and NK-cell function resulting in onset in early childhood of invasive bacterial and viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK2 gene on chromosome 5q35.1.
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/26083206/

Axiom
annotated source: immunodeficiency 40
annotated property: hasExactSynonym
annotated target: IMD40
has synonym type: OMO_0003012

immunodeficiency 23
type: Class
subclass of: DOID 628
IAO_0000115: A combined T cell and B cells immunodeficiency characterized by marked atopy and autoimmunity caused by increased T(H)2 and T(H)17 cytokine production by CD4(+) T cells, T-cell lymphopenia, reduced memory B-cell numbers, recurrent respiratory and skin infections beginning in early childhood, increased serum IgE, and variable developmental delay or intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the PGM3 gene on chromosome 6q14.1.
has db xref: GARD:4331
has db xref: MIM:615816
has db xref: NCI:C126339
has db xref: ORDO:443811
has db xref: SNOMEDCT_US_2023_03_01:1187623009
has db xref: UMLS_CUI:C4014371
has exact synonym: CID due to PGM3 deficiency
has exact synonym: IMD23
has exact synonym: PGM3-CDG
has exact synonym: PGM3-related congenital disorder of glycosylation
has exact synonym: combined immunodeficiency due to PGM3 deficiency
has OBO namespace: disease_ontology
id: DOID:0111953
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: immunodeficiency 23
annotated property: IAO_0000115
annotated target: A combined T cell and B cells immunodeficiency characterized by marked atopy and autoimmunity caused by increased T(H)2 and T(H)17 cytokine production by CD4(+) T cells, T-cell lymphopenia, reduced memory B-cell numbers, recurrent respiratory and skin infections beginning in early childhood, increased serum IgE, and variable developmental delay or intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the PGM3 gene on chromosome 6q14.1.
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/14981714/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/24589341/

Axiom
annotated source: immunodeficiency 23
annotated property: hasExactSynonym
annotated target: IMD23
has synonym type: OMO_0003012

Axiom
annotated source: immunodeficiency 23
annotated property: hasExactSynonym
annotated target: PGM3-CDG
has synonym type: OMO_0003012

immunodeficiency 11B
type: Class
subclass of: T cell deficiency
IAO_0000115: A T cell deficiency characterized by defects in T-cell activation, increased IgE, eosinophilia and early childhood onset of moderate to severe atopic dermatitis that has_material_basis_in heterozygous mutation in the CARD11 gene on chromosome 7p22.2.
has db xref: MIM:617638
has db xref: NCI:C176630
has db xref: UMLS_CUI:C4539957
has exact synonym: IMD11B
has exact synonym: atopic dermatitis, elevated IgE, and eosinophilia
has exact synonym: immunodeficiency 11B with atopic dermatitis
has OBO namespace: disease_ontology
id: DOID:0111958
in subset: NCIthesaurus

Axiom
annotated source: immunodeficiency 11B
annotated property: IAO_0000115
annotated target: A T cell deficiency characterized by defects in T-cell activation, increased IgE, eosinophilia and early childhood onset of moderate to severe atopic dermatitis that has_material_basis_in heterozygous mutation in the CARD11 gene on chromosome 7p22.2.
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/28628108/

Axiom
annotated source: immunodeficiency 11B
annotated property: hasExactSynonym
annotated target: IMD11B
has synonym type: OMO_0003012

immunodeficiency 26
type: Class
subclass of: DOID 627
IAO_0000115: A severe combined immunodeficiency characterized by virtually absent peripheral B and T cells but normal numbers of NK cells, complete block in B-cell differentiation, and a defect in slow repair of DNA double-strand breaks in fibroblasts, that has_material_basis_in homozygous or compound heterozygous mutation in the PRKDC gene on chromosome 8q11.21.
has db xref: MIM:615966
has db xref: NCI:C176795
has db xref: ORDO:317425
has db xref: UMLS_CUI:C4014833
has exact synonym: IMD26
has exact synonym: SCID due to DNA-PKcs deficiency
has exact synonym: immunodeficiency 26, with or without neurologic abnormalities
has exact synonym: severe combined immunodeficiency due to DNA-PKcs deficiency
has OBO namespace: disease_ontology
id: DOID:0111961
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: immunodeficiency 26
annotated property: IAO_0000115
annotated target: A severe combined immunodeficiency characterized by virtually absent peripheral B and T cells but normal numbers of NK cells, complete block in B-cell differentiation, and a defect in slow repair of DNA double-strand breaks in fibroblasts, that has_material_basis_in homozygous or compound heterozygous mutation in the PRKDC gene on chromosome 8q11.21.
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/19075392/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/23722905/

Axiom
annotated source: immunodeficiency 26
annotated property: hasExactSynonym
annotated target: IMD26
has synonym type: OMO_0003012

combined immunodeficiency
type: Class
subclass of: DOID 612
IAO_0000115: A primary immunodeficiency disease that involves multiple components of the immune system.
has db xref: NCI:C27871
has OBO namespace: disease_ontology
id: DOID:0111962
in subset: NCIthesaurus

Axiom
annotated source: combined immunodeficiency
annotated property: IAO_0000115
annotated target: A primary immunodeficiency disease that involves multiple components of the immune system.
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/32048120/

immunodeficiency 54
type: Class
subclass of: DOID 612
IAO_0000115: A NK cell deficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of CD56(dim) natural killer cells, adrenal insufficiency, and recurrent viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the MCM4 gene on chromosome 8q11.21.
has db xref: MESH:C566492
has db xref: MIM:609981
has db xref: NCI:C123729
has db xref: ORDO:75391
has db xref: UMLS_CUI:C1864947
has exact synonym: IMD54
has exact synonym: NKCD
has exact synonym: familial isolated natural killer cell deficiency
has exact synonym: primary immunodeficiency due to MCM4 deficiency
has exact synonym: primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
has OBO namespace: disease_ontology
id: DOID:0111967
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: immunodeficiency 54
annotated property: IAO_0000115
annotated target: A NK cell deficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of CD56(dim) natural killer cells, adrenal insufficiency, and recurrent viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the MCM4 gene on chromosome 8q11.21.
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/16532402/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/22354167/

Axiom
annotated source: immunodeficiency 54
annotated property: hasExactSynonym
annotated target: IMD54
has synonym type: OMO_0003012

Axiom
annotated source: immunodeficiency 54
annotated property: hasExactSynonym
annotated target: NKCD
has synonym type: OMO_0003012

immunodeficiency 30
type: Class
subclass of: DOID 612
IAO_0000115: A T cell and NK cell immunodeficiency characterized by absence of responses to IL12 and IL23 in T calls and NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL12RB1 gene on chromosome 19p13.11.
has db xref: MIM:614891
has db xref: NCI:C176800
has db xref: ORDO:319552
has db xref: UMLS_CUI:C4013949
has exact synonym: IMD30
has exact synonym: MSMD due to complete IL12RB1 deficiency
has exact synonym: MSMD due to complete interleukin 12 receptor beta 1 deficiency
has exact synonym: Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency
has exact synonym: Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
has OBO namespace: disease_ontology
id: DOID:0111990
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: immunodeficiency 30
annotated property: IAO_0000115
annotated target: A T cell and NK cell immunodeficiency characterized by absence of responses to IL12 and IL23 in T calls and NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL12RB1 gene on chromosome 19p13.11.
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/19084105/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/9603732/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/9603733/

Axiom
annotated source: immunodeficiency 30
annotated property: hasExactSynonym
annotated target: IMD30
has synonym type: OMO_0003012

X-linked severe congenital neutropenia
type: Class
subclass of: DOID 74
IAO_0000115: A severe congenital neutropenia that has_material_basis_in hemizygous activating mutation in WAS on chromosome Xp11.23.
has db xref: GARD:3981
has db xref: MESH:C564539
has db xref: MIM:300299
has db xref: NCI:C176818
has db xref: ORDO:86788
has db xref: SNOMEDCT_US_2023_03_01:718882006
has db xref: UMLS_CUI:C1845987
has exact synonym: SCNX
has exact synonym: XLN
has OBO namespace: disease_ontology
id: DOID:0112128
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: X-linked severe congenital neutropenia
annotated property: IAO_0000115
annotated target: A severe congenital neutropenia that has_material_basis_in hemizygous activating mutation in WAS on chromosome Xp11.23.
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/11242115/

Axiom
annotated source: X-linked severe congenital neutropenia
annotated property: hasExactSynonym
annotated target: SCNX
has synonym type: OMO_0003012

Axiom
annotated source: X-linked severe congenital neutropenia
annotated property: hasExactSynonym
annotated target: XLN
has synonym type: OMO_0003012

X-linked spondyloepimetaphyseal dysplasia
type: Class
subclass of: osteochondrodysplasia
IAO_0000115: A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28.
has db xref: GARD:4979
has db xref: MESH:C564714
has db xref: MIM:300106
has db xref: NCI:C188996
has db xref: ORDO:93349
has db xref: SNOMEDCT_US_2023_03_01:770603000
has db xref: UMLS_CUI:C1848097
has exact synonym: SEMD X-linked
has exact synonym: SEMDX
has OBO namespace: disease_ontology
id: DOID:0112150
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: X-linked spondyloepimetaphyseal dysplasia
annotated property: IAO_0000115
annotated target: A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28.
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/27236923/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/8064814/

Axiom
annotated source: X-linked spondyloepimetaphyseal dysplasia
annotated property: hasExactSynonym
annotated target: SEMDX
has synonym type: OMO_0003012

De Sanctis-Cacchione syndrome
type: Class
subclass of: xeroderma pigmentosum
IAO_0000115: A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration.
has db xref: GARD:8276
has db xref: MESH:C535992
has db xref: MIM:278800
has db xref: NCI:C84666
has db xref: ORDO:1569
has db xref: SNOMEDCT_US_2023_03_01:254201008
has db xref: UMLS_CUI:C0265201
has exact synonym: xeroderma pigmentosum with neurologic manifestation
has OBO namespace: disease_ontology
id: DOID:0112158
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: De Sanctis-Cacchione syndrome
annotated property: IAO_0000115
annotated target: A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration.
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/10767341/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/2168777/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/28491977/

central precocious puberty
type: Class
subclass of: endocrine system disease
IAO_0000115: An endocrine system disease characterized by early activation of the hypothalamic-pituitary-gonadal axis resulting in development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys.
has db xref: ICD10CM:E22.8
has db xref: MESH:D011629
has db xref: NCI:C113217
has db xref: ORDO:759
has db xref: SNOMEDCT_US_2023_03_01:237816004
has db xref: UMLS_CUI:C0342543
has exact synonym: CPP
has exact synonym: gonadotropin-dependant precocious puberty
has OBO namespace: disease_ontology
id: DOID:0112308
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: central precocious puberty
annotated property: IAO_0000115
annotated target: An endocrine system disease characterized by early activation of the hypothalamic-pituitary-gonadal axis resulting in development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys.
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/23738509/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/30086862/

Axiom
annotated source: central precocious puberty
annotated property: hasExactSynonym
annotated target: CPP
has synonym type: OMO_0003012

sensorineural hearing loss
type: Class
subclass of: inner ear disease
IAO_0000115: An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem.
has alternative id: DOID:11053
has alternative id: DOID:12112
has alternative id: DOID:12114
has db xref: ICD10CM:H90.5
has db xref: ICD9CM:389.1
has db xref: MESH:D006319
has db xref: NCI:C26739
has db xref: SNOMEDCT_US_2023_03_01:60700002
has db xref: UMLS_CUI:C0018784
has exact synonym: High Frequency Hearing Loss
has exact synonym: High frequency deafness
has exact synonym: Perceptive deafness
has exact synonym: Perceptive hearing loss
has exact synonym: Perceptive hearing loss or deafness
has exact synonym: Sensorineural Deafness
has exact synonym: Sensory hearing loss
has exact synonym: central hearing loss
has exact synonym: high-frequency hearing loss
has OBO namespace: disease_ontology
id: DOID:10003
in subset: DO FlyBase slim
in subset: NCIthesaurus

Axiom
annotated source: sensorineural hearing loss
annotated property: IAO_0000115
annotated target: An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem.
has db xref: url:https://medlineplus.gov/ency/article/003291.htm

thyroid lymphoma
type: Class
subclass of: thyroid cancer
IAO_0000115: A thyroid gland cancer that has_material_basis_in lymphocytes.
has db xref: NCI:C5265
has db xref: SNOMEDCT_US_2023_03_01:278051002
has db xref: UMLS_CUI:C1336753
has OBO namespace: disease_ontology
id: DOID:10011
in subset: NCIthesaurus

Axiom
annotated source: thyroid lymphoma
annotated property: IAO_0000115
annotated target: A thyroid gland cancer that has_material_basis_in lymphocytes.
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK544282/

multiple endocrine neoplasia type 2B
type: Class
subclass of: syndrome
IAO_0000115: A multiple endocrine neoplasia characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities.
has db xref: ICD10CM:E31.23
has db xref: ICD9CM:258.03
has db xref: MESH:D018814
has db xref: MIM:162300
has db xref: NCI:C3227
has db xref: ORDO:247709
has db xref: SNOMEDCT_US_2023_03_01:61530001
has db xref: UMLS_CUI:C0025269
has exact synonym: MEN type IIB
has exact synonym: MEN2B
has exact synonym: Multiple endocrine neoplasia, type 3
has exact synonym: Wagenmann-Froboese syndrome
has exact synonym: mucosal neuroma syndrome
has OBO namespace: disease_ontology
id: DOID:10016
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: multiple endocrine neoplasia type 2B
annotated property: IAO_0000115
annotated target: A multiple endocrine neoplasia characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia_type_2b
has db xref: url:http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia
has db xref: url:http://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/multiple_endocrine_neoplasia_men_syndromes/multiple_endocrine_neoplasia_type_2b_men_2b.html
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/15965261
has db xref: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1244/viewAbstract

Axiom
annotated source: multiple endocrine neoplasia type 2B
annotated property: hasExactSynonym
annotated target: MEN2B
has synonym type: OMO_0003012

multiple endocrine neoplasia type 1
type: Class
subclass of: syndrome
IAO_0000115: A multiple endocrine neoplasia that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas.
has db xref: GARD:3829
has db xref: ICD10CM:E31.21
has db xref: ICD9CM:258.01
has db xref: MESH:D018761
has db xref: MIM:131100
has db xref: NCI:C3225
has db xref: ORDO:652
has db xref: SNOMEDCT_US_2023_03_01:30664006
has db xref: UMLS_CUI:C0025267
has exact synonym: MEN type I
has exact synonym: Wermer syndrome
has exact synonym: Wermer's syndrome
has OBO namespace: disease_ontology
id: DOID:10017
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: multiple endocrine neoplasia type 1
annotated property: IAO_0000115
annotated target: A multiple endocrine neoplasia that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007640
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia_type_1
has db xref: url:http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/000398.htm
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/25509899

endometritis
type: Class
subclass of: endometrial disease
IAO_0000115: An endometrial disease that is characterized by inflammation of the endometrium.
has db xref: MESH:D004716
has db xref: NCI:C26764
has db xref: SNOMEDCT_US_2023_03_01:155975003
has db xref: UMLS_CUI:C0014179
has OBO namespace: disease_ontology
id: DOID:1002
in subset: NCIthesaurus

Axiom
annotated source: endometritis
annotated property: IAO_0000115
annotated target: An endometrial disease that is characterized by inflammation of the endometrium.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/7511354

ampulla of Vater cancer
type: Class
subclass of: duodenum cancer
IAO_0000115: A duodenum cancer that is located_in the ampulla of Vater.
has db xref: ICD10CM:C24.1
has db xref: ICD9CM:156.2
has db xref: NCI:C3536
has db xref: SNOMEDCT_US_2023_03_01:93668007
has db xref: UMLS_CUI:C0153454
has exact synonym: malignant tumour of ampulla of vater
has OBO namespace: disease_ontology
id: DOID:10020
in subset: NCIthesaurus

Axiom
annotated source: ampulla of Vater cancer
annotated property: IAO_0000115
annotated target: A duodenum cancer that is located_in the ampulla of Vater.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/25485917/

duodenum cancer
type: Class
subclass of: small intestine cancer
IAO_0000115: A small intestine cancer that is located_in the beginning section of the small intestine.
has alternative id: DOID:6072
has db xref: ICD10CM:C17.0
has db xref: ICD9CM:152.0
has db xref: MESH:D004379
has db xref: NCI:C4803
has db xref: NCI:C9328
has db xref: SNOMEDCT_US_2023_03_01:254570009
has db xref: SNOMEDCT_US_2023_03_01:363403002
has db xref: UMLS_CUI:C0153426
has db xref: UMLS_CUI:C0541912
has exact synonym: Duodenal cancer
has exact synonym: cancer of duodenum
has exact synonym: duodenal neoplasm
has OBO namespace: disease_ontology
id: DOID:10021
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim

Axiom
annotated source: duodenum cancer
annotated property: IAO_0000115
annotated target: A small intestine cancer that is located_in the beginning section of the small intestine.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Duodenal_cancer

ampulla of Vater benign neoplasm
type: Class
subclass of: duodenal benign neoplasm
IAO_0000115: A duodenal benign neoplasm that is located_in the ampulla of Vater.
has db xref: NCI:C4443
has db xref: SNOMEDCT_US_2023_03_01:126858004
has db xref: UMLS_CUI:C0345916
has exact synonym: tumor of the ampulla of Vater
has OBO namespace: disease_ontology
id: DOID:10022
in subset: NCIthesaurus

Axiom
annotated source: ampulla of Vater benign neoplasm
annotated property: IAO_0000115
annotated target: A duodenal benign neoplasm that is located_in the ampulla of Vater.
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5620475/

migraine with aura
type: Class
subclass of: DOID 6364
IAO_0000115: A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon.
has alternative id: DOID:10025
has db xref: ICD10CM:G43.1
has db xref: ICD9CM:346.0
has db xref: MESH:D020325
has db xref: MIM:609179
has db xref: MIM:609670
has db xref: NCI:C117005
has db xref: SNOMEDCT_US_2023_03_01:155047002
has db xref: UMLS_CUI:C0154723
has exact synonym: classic migraine
has OBO namespace: disease_ontology
id: DOID:10024
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: migraine with aura
annotated property: IAO_0000115
annotated target: A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Migraine
has db xref: url:http://www.mayoclinic.org/diseases-conditions/migraine-with-aura/basics/definition/con-20030404

tabes dorsalis
type: Class
subclass of: DOID 9988
IAO_0000115: 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.
has db xref: GARD:8730
has db xref: ICD10CM:A52.11
has db xref: ICD9CM:094.0
has db xref: MESH:D013606
has db xref: NCI:C35057
has db xref: SNOMEDCT_US_2023_03_01:266134000
has db xref: UMLS_CUI:C0039223
has exact synonym: Posterior spinal sclerosis
has exact synonym: Tabes dorsalis - neurosyphilis
has OBO namespace: disease_ontology
id: DOID:10027
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus
in subset: gram-negative bacterial infectious disease
in subset: sexually transmitted infectious disease

Axiom
annotated source: tabes dorsalis
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007637
has db xref: url:http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh
has db xref: url:http://www.ninds.nih.gov/disorders/tabes_dorsalis/tabes_dorsalis.htm

pelvic inflammatory disease
type: Class
subclass of: reproductive system disease
IAO_0000115: A female reproductive system disease that is characterized by an infection of the female reproductive organs.
has db xref: ICD10CM:N73.9
has db xref: ICD9CM:614.9
has db xref: MESH:D000292
has db xref: NCI:C3889
has db xref: SNOMEDCT_US_2023_03_01:266648001
has db xref: UMLS_CUI:C0242172
has exact synonym: PID
has OBO namespace: disease_ontology
id: DOID:1003
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: pelvic inflammatory disease
annotated property: IAO_0000115
annotated target: A female reproductive system disease that is characterized by an infection of the female reproductive organs.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/25992748

Axiom
annotated source: pelvic inflammatory disease
annotated property: hasExactSynonym
annotated target: PID
has synonym type: OMO_0003012

pulmonary interstitial emphysema
type: Class
subclass of: chronic obstructive pulmonary disease
IAO_0000115: A pulmonary emphysema that is characterized by the abnormal location of gas within the pulmonary interstitium and lymphatics usually due to positive pressure ventilation.
has db xref: ICD10CM:J98.2
has db xref: ICD9CM:518.1
has db xref: NCI:C34571
has db xref: SNOMEDCT_US_2023_03_01:11211003
has db xref: UMLS_CUI:C1370824
has OBO namespace: disease_ontology
id: DOID:10030
in subset: NCIthesaurus

Axiom
annotated source: pulmonary interstitial emphysema
annotated property: IAO_0000115
annotated target: A pulmonary emphysema that is characterized by the abnormal location of gas within the pulmonary interstitium and lymphatics usually due to positive pressure ventilation.
has db xref: url:https://radiopaedia.org/articles/pulmonary-interstitial-emphysema?lang=us
has db xref: url:https://www.cedars-sinai.org/health-library/diseases-and-conditions---pediatrics/p/pulmonary-interstitial-emphysema.html

malignant eyelid melanoma
type: Class
subclass of: DOID 8923
IAO_0000115: A skin melanoma that arises from the upper or lower eyelid.
has db xref: NCI:C4358
has db xref: SNOMEDCT_US_2023_03_01:231834005
has db xref: UMLS_CUI:C0339116
has OBO namespace: disease_ontology
id: DOID:10040
in subset: NCIthesaurus

Axiom
annotated source: malignant eyelid melanoma
annotated property: IAO_0000115
annotated target: A skin melanoma that arises from the upper or lower eyelid.
has db xref: url:https://eyewiki.aao.org/Malignant_Melanoma_of_the_Eyelid

balloon cell malignant melanoma
type: Class
subclass of: DOID 8923
IAO_0000115: A skin melanoma that is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm.
has db xref: NCI:C4227
has db xref: SNOMEDCT_US_2023_03_01:403922007
has db xref: UMLS_CUI:C0334426
has OBO namespace: disease_ontology
id: DOID:10044
in subset: NCIthesaurus

Axiom
annotated source: balloon cell malignant melanoma
annotated property: IAO_0000115
annotated target: A skin melanoma that is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/27984232/

nodular malignant melanoma
type: Class
subclass of: DOID 8923
IAO_0000115: A melanoma that is characterized as highly aggressive and manifests as a uniform blue-black, blue-red, or amelanotic nodule.
has db xref: GARD:9961
has db xref: NCI:C4225
has db xref: SNOMEDCT_US_2023_03_01:2142002
has db xref: UMLS_CUI:C0334424
has exact synonym: nodular melanoma
has OBO namespace: disease_ontology
id: DOID:10047
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: nodular malignant melanoma
annotated property: IAO_0000115
annotated target: A melanoma that is characterized as highly aggressive and manifests as a uniform blue-black, blue-red, or amelanotic nodule.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Nodular_melanoma
has db xref: url:http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/dermatology/cutaneous-malignant-melanoma/

endometrial disease
type: Class
subclass of: uterine disease
IAO_0000115: A uterine disease that is located_in the endometrium.
has db xref: NCI:C3504
has db xref: SNOMEDCT_US_2023_03_01:418632009
has db xref: UMLS_CUI:C0151622
has OBO namespace: disease_ontology
id: DOID:1005
in subset: NCIthesaurus

Axiom
annotated source: endometrial disease
annotated property: IAO_0000115
annotated target: A uterine disease that is located_in the endometrium.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/25100707

skin amelanotic melanoma
type: Class
subclass of: DOID 8923
IAO_0000115: A skin melanoma that is characterized by a lack of melanin pigment in most of the melanoma tumor cells.
has db xref: NCI:C4633
has db xref: SNOMEDCT_US_2023_03_01:276751004
has db xref: UMLS_CUI:C0349515
has exact synonym: skin amelanotic malignant melanoma
has OBO namespace: disease_ontology
id: DOID:10054
in subset: NCIthesaurus

Axiom
annotated source: skin amelanotic melanoma
annotated property: IAO_0000115
annotated target: A skin melanoma that is characterized by a lack of melanin pigment in most of the melanoma tumor cells.
has db xref: url:https://dermnetnz.org/topics/amelanotic-melanoma/

subglottis benign neoplasm
type: Class
subclass of: laryngeal benign neoplasm
IAO_0000115: A laryngeal benign neoplasm that is located_in the subglottic area of the larynx.
has db xref: NCI:C4426
has db xref: SNOMEDCT_US_2023_03_01:126696001
has db xref: UMLS_CUI:C0345746
has exact synonym: Subglottic tumor
has OBO namespace: disease_ontology
id: DOID:10069
in subset: NCIthesaurus

Axiom
annotated source: subglottis benign neoplasm
annotated property: IAO_0000115
annotated target: A laryngeal benign neoplasm that is located_in the subglottic area of the larynx.
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4427

larynx leiomyoma
type: Class
subclass of: laryngeal benign neoplasm
IAO_0000115: A laryngeal benign neoplasm that derives_from smooth muscle cells.
has db xref: NCI:C6027
has db xref: UMLS_CUI:C1334370
has OBO namespace: disease_ontology
id: DOID:10070
in subset: NCIthesaurus

Axiom
annotated source: larynx leiomyoma
annotated property: IAO_0000115
annotated target: A laryngeal benign neoplasm that derives_from smooth muscle cells.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/20737370

larynx squamous papilloma
type: Class
subclass of: laryngeal benign neoplasm
IAO_0000115: A laryngeal benign neoplasm that is characterized by the presence of a connective tissue core covered by stratified squamous epithelium and that has_symptom hoarseness.
has db xref: NCI:C7742
has db xref: SNOMEDCT_US_2023_03_01:269637007
has db xref: UMLS_CUI:C0240164
has exact synonym: Laryngeal Squamous Cell Papilloma
has OBO namespace: disease_ontology
id: DOID:10071
in subset: NCIthesaurus

Axiom
annotated source: larynx squamous papilloma
annotated property: IAO_0000115
annotated target: A laryngeal benign neoplasm that is characterized by the presence of a connective tissue core covered by stratified squamous epithelium and that has_symptom hoarseness.
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK562327/

hymenolepiasis
type: Class
subclass of: DOID 883
IAO_0000115: A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness.
has db xref: GARD:2787
has db xref: ICD10CM:B71.0
has db xref: ICD9CM:123.6
has db xref: MESH:D006925
has db xref: NCI:C84768
has db xref: SNOMEDCT_US_2023_03_01:187153007
has db xref: UMLS_CUI:C0020413
has exact synonym: Hymenolepis infectious disease
has exact synonym: dwarf tapeworm infection
has OBO namespace: disease_ontology
id: DOID:10074
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: hymenolepiasis
annotated property: IAO_0000115
annotated target: A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness.
type: ECO_0007638
type: ECO_0007640
has db xref: url:http://en.wikipedia.org/wiki/Hymenolepiasis
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/001378.htm

diphyllobothriasis
type: Class
subclass of: DOID 883
IAO_0000115: A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia.
has db xref: GARD:942
has db xref: ICD10CM:B70.0
has db xref: ICD9CM:123.4
has db xref: MESH:D004169
has db xref: NCI:C128391
has db xref: SNOMEDCT_US_2023_03_01:187151009
has db xref: UMLS_CUI:C0012561
has exact synonym: Diphyllobothrium infection
has exact synonym: fish tapeworm
has OBO namespace: disease_ontology
id: DOID:10075
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: diphyllobothriasis
annotated property: IAO_0000115
annotated target: A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Diphyllobothrium
has db xref: url:http://www.dpd.cdc.gov/dpdx/HTML/Diphyllobothriasis.htm

cysticercosis
type: Class
subclass of: DOID 883
IAO_0000115: A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions.
has alternative id: DOID:10078
has alternative id: DOID:14424
has db xref: GARD:8194
has db xref: ICD10CM:B69
has db xref: ICD9CM:123.1
has db xref: MESH:D003551
has db xref: NCI:C34520
has db xref: SNOMEDCT_US_2023_03_01:59051007
has db xref: UMLS_CUI:C0010678
has exact synonym: Pork tapeworm infection
has exact synonym: Tapeworm infection intestinal taenia solum
has exact synonym: Tapeworm infection pork
has exact synonym: intestinal taenia solium infection
has exact synonym: neurocysticercosis
has exact synonym: tenia solium infectious disease
has OBO namespace: disease_ontology
id: DOID:10079
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: cysticercosis
annotated property: IAO_0000115
annotated target: A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Cysticercosis

sparganosis
type: Class
subclass of: DOID 883
IAO_0000115: A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected.
has db xref: ICD10CM:B70.1
has db xref: ICD9CM:123.5
has db xref: MESH:D013031
has db xref: NCI:C35030
has db xref: SNOMEDCT_US_2023_03_01:187152002
has db xref: UMLS_CUI:C0037753
has exact synonym: Infection by Sparganum
has OBO namespace: disease_ontology
id: DOID:10080
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: sparganosis
annotated property: IAO_0000115
annotated target: A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Sparganosis
has db xref: url:http://www.dpd.cdc.gov/dpdx/HTML/Sparganosis.htm

gastric leiomyoma
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A gastrointestinal system benign neoplasm that is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
has db xref: NCI:C3876
has db xref: SNOMEDCT_US_2023_03_01:276812001
has db xref: UMLS_CUI:C0238440
has exact synonym: leiomyoma of the stomach
has OBO namespace: disease_ontology
id: DOID:10087
in subset: NCIthesaurus

Axiom
annotated source: gastric leiomyoma
annotated property: IAO_0000115
annotated target: A gastrointestinal system benign neoplasm that is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
has db xref: url:https://radiopaedia.org/articles/gastric-leiomyoma?lang=us

intracranial abscess
type: Class
subclass of: central nervous system disease
IAO_0000115: A central nervous system disease that is located_in the skull and is characterized by a collection of pus (infected material) inside the skull.
has db xref: ICD9CM:324.0
has db xref: NCI:C34734
has db xref: SNOMEDCT_US_2023_03_01:192738001
has db xref: UMLS_CUI:C0021874
has OBO namespace: disease_ontology
id: DOID:10095
in subset: NCIthesaurus

Axiom
annotated source: intracranial abscess
annotated property: IAO_0000115
annotated target: A central nervous system disease that is located_in the skull and is characterized by a collection of pus (infected material) inside the skull.
type: ECO_0007640
has db xref: url:https://www.nlm.nih.gov/medlineplus/ency/article/001416.htm

sleeping sickness
type: Class
subclass of: parasitic protozoa infectious disease
IAO_0000115: A trypanosomiasis that results from infection by Trypanosoma brucei and gambiense, which is transmitted by the bite of an infected tsetse fly (Glossina spp). The symptoms include fever, headache, joint pain, itching, confusion, sensory disturbances, poor coordination and sleep disturbances.
has db xref: GARD:7826
has db xref: ICD10CM:B56
has db xref: ICD9CM:086.5
has db xref: KEGG:05143
has db xref: MESH:D014353
has db xref: NCI:C84541
has db xref: ORDO:3385
has db xref: SNOMEDCT_US_2023_03_01:27031003
has db xref: UMLS_CUI:C0041228
has exact synonym: African sleeping sickness
has exact synonym: African trypanosomiasis
has OBO namespace: disease_ontology
id: DOID:10112
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus
in subset: zoonotic infectious disease

Axiom
annotated source: sleeping sickness
annotated property: IAO_0000115
annotated target: A trypanosomiasis that results from infection by Trypanosoma brucei and gambiense, which is transmitted by the bite of an infected tsetse fly (Glossina spp). The symptoms include fever, headache, joint pain, itching, confusion, sensory disturbances, poor coordination and sleep disturbances.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007640
has db xref: url:http://en.wikipedia.org/wiki/African_trypanosomiasis
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/001362.htm
has db xref: url:http://www.who.int/mediacentre/factsheets/fs259/en/

corneal disease
type: Class
subclass of: DOID 5614
IAO_0000115: An eye disease that affects the cornea, which is the transparent surface of the eye that assists in light refraction.
has alternative id: DOID:2284
has db xref: ICD10CM:H18.9
has db xref: ICD9CM:371.9
has db xref: MESH:D003316
has db xref: NCI:C26731
has db xref: SNOMEDCT_US_2023_03_01:15250008
has db xref: UMLS_CUI:C0010034
has OBO namespace: disease_ontology
id: DOID:10124
in subset: DO RAD slim
in subset: NCIthesaurus

Axiom
annotated source: corneal disease
annotated property: IAO_0000115
annotated target: An eye disease that affects the cornea, which is the transparent surface of the eye that assists in light refraction.
type: ECO_0007636
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C26731

keratoconus
type: Class
subclass of: corneal disease
IAO_0000115: A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape.
has db xref: GARD:6824
has db xref: ICD10CM:H18.6
has db xref: ICD9CM:371.6
has db xref: MESH:D007640
has db xref: MIM:148300
has db xref: MIM:608586
has db xref: MIM:608932
has db xref: MIM:609271
has db xref: MIM:614622
has db xref: MIM:614623
has db xref: MIM:614628
has db xref: MIM:614629
has db xref: NCI:C26806
has db xref: ORDO:156071
has db xref: SNOMEDCT_US_2023_03_01:267733008
has db xref: UMLS_CUI:C0022578
has exact synonym: conical cornea
has OBO namespace: disease_ontology
id: DOID:10126
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: keratoconus
annotated property: IAO_0000115
annotated target: A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Keratoconus
has db xref: url:http://ghr.nlm.nih.gov/glossary=keratoconus

venous insufficiency
type: Class
subclass of: vascular disease
IAO_0000115: A vein disease that is characterized by impaired flow of blood through the veins.
has db xref: ICD9CM:459.81
has db xref: MESH:D014689
has db xref: NCI:C127822
has db xref: SNOMEDCT_US_2023_03_01:20696009
has db xref: UMLS_CUI:C0042485
has exact synonym: peripheral venous insufficiency
has OBO namespace: disease_ontology
id: DOID:10128
in subset: NCIthesaurus

Axiom
annotated source: venous insufficiency
annotated property: IAO_0000115
annotated target: A vein disease that is characterized by impaired flow of blood through the veins.
type: ECO_0007640
has db xref: url:http://my.clevelandclinic.org/disorders/venous_insufficiency/hic_venous_insufficiency.aspx
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/000203.htm

psychologic vaginismus
type: Class
subclass of: disease of mental health
IAO_0000115: A psychosexual disorder that is characterized by involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause.
has db xref: ICD10CM:F52.5
has db xref: ICD9CM:306.51
has db xref: NCI:C35113
has db xref: SNOMEDCT_US_2023_03_01:71787009
has db xref: UMLS_CUI:C0042266
has exact synonym: Functional vaginismus
has exact synonym: Non-organic vaginismus
has exact synonym: Psychogenic Vaginismus
has OBO namespace: disease_ontology
id: DOID:10131
in subset: NCIthesaurus

Axiom
annotated source: psychologic vaginismus
annotated property: IAO_0000115
annotated target: A psychosexual disorder that is characterized by involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause.
has db xref: url:https://my.clevelandclinic.org/health/diseases/15723-vaginismus
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C35113

xerophthalmia
type: Class
subclass of: dry eye syndrome
IAO_0000115: A dry eye syndrome that is characterized by conjunctival and corneal xerosis, Bitot's spots, keratomalacia, nyctalopia, and retinopathy resulting from vitamin A deficiency.
has db xref: ICD10CM:E50.7
has db xref: ICD9CM:375.15
has db xref: MESH:D014985
has db xref: NCI:C34503
has db xref: SNOMEDCT_US_2023_03_01:193887002
has db xref: UMLS_CUI:C0043349
has exact synonym: Conjunctival xerosis
has OBO namespace: disease_ontology
id: DOID:10138
in subset: NCIthesaurus

Axiom
annotated source: xerophthalmia
annotated property: IAO_0000115
annotated target: A dry eye syndrome that is characterized by conjunctival and corneal xerosis, Bitot's spots, keratomalacia, nyctalopia, and retinopathy resulting from vitamin A deficiency.
has db xref: url:https://www.nature.com/articles/eye201417
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK431094/

dry eye syndrome
type: Class
subclass of: lacrimal apparatus disease
IAO_0000115: A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface.
has db xref: ICD10CM:H04.12
has db xref: MESH:D015352
has db xref: NCI:C34553
has db xref: SNOMEDCT_US_2023_03_01:193980001
has db xref: UMLS_CUI:C0013238
has exact synonym: Tear film insufficiency
has exact synonym: dry eye disease
has OBO namespace: disease_ontology
id: DOID:10140
in subset: NCIthesaurus

Axiom
annotated source: dry eye syndrome
annotated property: IAO_0000115
annotated target: A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/29498987/

thymus lymphoma
type: Class
subclass of: thymus cancer
IAO_0000115: A thymus cancer that arises from the thymus.
has db xref: NCI:C6451
has db xref: UMLS_CUI:C1336745
has OBO namespace: disease_ontology
id: DOID:10146
in subset: NCIthesaurus

Axiom
annotated source: thymus lymphoma
annotated property: IAO_0000115
annotated target: A thymus cancer that arises from the thymus.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/12063471/

small intestine cancer
type: Class
subclass of: intestinal cancer
IAO_0000115: An intestinal cancer that is located_in the small intestine.
has db xref: GARD:9385
has db xref: ICD10CM:C17
has db xref: ICD9CM:152.9
has db xref: NCI:C7523
has db xref: SNOMEDCT_US_2023_03_01:363509000
has db xref: UMLS_CUI:C0153425
has OBO namespace: disease_ontology
id: DOID:10154
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: small intestine cancer
annotated property: IAO_0000115
annotated target: An intestinal cancer that is located_in the small intestine.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Small_intestine

intestinal cancer
type: Class
subclass of: gastrointestinal system cancer
IAO_0000115: A gastrointestinal system cancer that is located_in the intestine.
has db xref: ICD10CM:C26.0
has db xref: ICD9CM:159.0
has db xref: MESH:D007414
has db xref: NCI:C4572
has db xref: SNOMEDCT_US_2023_03_01:93838000
has db xref: UMLS_CUI:C0346627
has exact synonym: malignant intestinal tumors
has exact synonym: malignant neoplasm of intestine
has OBO namespace: disease_ontology
id: DOID:10155
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim

Axiom
annotated source: intestinal cancer
annotated property: IAO_0000115
annotated target: A gastrointestinal system cancer that is located_in the intestine.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Intestine

benign ileal neoplasm
type: Class
subclass of: DOID 7505
IAO_0000115: A small intestine benign neoplasm that affects the wall of the ileum.
has db xref: MESH:D007078
has db xref: NCI:C3130
has db xref: SNOMEDCT_US_2023_03_01:254576003
has db xref: UMLS_CUI:C0020876
has exact synonym: Ileal tumor
has OBO namespace: disease_ontology
id: DOID:10156
in subset: NCIthesaurus
comment: NCI and MESH IDs are for both malignant and benign forms, removed from this record.[LS]

Axiom
annotated source: benign ileal neoplasm
annotated property: IAO_0000115
annotated target: A small intestine benign neoplasm that affects the wall of the ileum.
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3130

osteonecrosis
type: Class
subclass of: DOID 65
IAO_0000115: An ischemic bone disease that results_in necrosis located_in bone.
has alternative id: DOID:10160
has alternative id: DOID:10161
has alternative id: DOID:10162
has alternative id: DOID:10163
has alternative id: DOID:10164
has alternative id: DOID:4128
has alternative id: DOID:8380
has alternative id: DOID:86
has db xref: ICD10CM:M87
has db xref: ICD10CM:M87.9
has db xref: ICD9CM:732.3
has db xref: ICD9CM:733.41
has db xref: ICD9CM:733.42
has db xref: ICD9CM:733.43
has db xref: ICD9CM:733.44
has db xref: MESH:D010020
has db xref: NCI:C34404
has db xref: NCI:C34841
has db xref: NCI:C34880
has db xref: NCI:C35226
has db xref: NCI:C35517
has db xref: SNOMEDCT_US_2023_03_01:156837008
has db xref: SNOMEDCT_US_2023_03_01:17926002
has db xref: SNOMEDCT_US_2023_03_01:240196003
has db xref: SNOMEDCT_US_2023_03_01:29281007
has db xref: SNOMEDCT_US_2023_03_01:43453000
has db xref: SNOMEDCT_US_2023_03_01:62100001
has db xref: SNOMEDCT_US_2023_03_01:83453001
has db xref: UMLS_CUI:C0003977
has db xref: UMLS_CUI:C0027543
has db xref: UMLS_CUI:C0029445
has db xref: UMLS_CUI:C0158442
has db xref: UMLS_CUI:C0158449
has db xref: UMLS_CUI:C0158450
has db xref: UMLS_CUI:C0158451
has db xref: UMLS_CUI:C0745048
has exact synonym: Avascular necrosis of bone
has exact synonym: aseptic necrosis
has exact synonym: bone necrosis
has OBO namespace: disease_ontology
id: DOID:10159
in subset: NCIthesaurus

Axiom
annotated source: osteonecrosis
annotated property: IAO_0000115
annotated target: An ischemic bone disease that results_in necrosis located_in bone.
type: ECO_0007638
type: ECO_0007640
has db xref: url:http://en.wikipedia.org/wiki/Avascular_necrosis
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/007260.htm

optic papillitis
type: Class
subclass of: optic neuritis
IAO_0000115: An optic neuritis that is characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins resulting in swelling around the optic disc.
has db xref: ICD10CM:H35.81
has db xref: ICD10CM:H47.1
has db xref: ICD10CM:H47.11
has db xref: ICD9CM:362.83
has db xref: ICD9CM:377.0
has db xref: ICD9CM:377.01
has db xref: MESH:D010211
has db xref: NCI:C3307
has db xref: SNOMEDCT_US_2023_03_01:3170006
has db xref: SNOMEDCT_US_2023_03_01:423488006
has db xref: SNOMEDCT_US_2023_03_01:6141006
has db xref: UMLS_CUI:C0030353
has db xref: UMLS_CUI:C0155288
has db xref: UMLS_CUI:C0242420
has db xref: UMLS_CUI:C0919308
has exact synonym: papillitis
has OBO namespace: disease_ontology
id: DOID:10175
in subset: NCIthesaurus

Axiom
annotated source: optic papillitis
annotated property: IAO_0000115
annotated target: An optic neuritis that is characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins resulting in swelling around the optic disc.
has db xref: url:https://en.wikipedia.org/wiki/Optic_papillitis

endobronchial lipoma
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A lipoma that is located within the lumen of a bronchus.
has db xref: NCI:C5063
has db xref: UMLS_CUI:C0852937
has OBO namespace: disease_ontology
id: DOID:10183
in subset: NCIthesaurus

Axiom
annotated source: endobronchial lipoma
annotated property: IAO_0000115
annotated target: A lipoma that is located within the lumen of a bronchus.
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5563533/

spindle cell lipoma
type: Class
subclass of: lipoma
IAO_0000115: A lipoma that is an asymptomatic, slow-growing subcutaneous tumor that has a predilection for the posterior back, neck, and shoulders of older men.
has db xref: ICDO:8857/0
has db xref: NCI:C4254
has db xref: SNOMEDCT_US_2023_03_01:27313007
has db xref: UMLS_CUI:C0334474
has OBO namespace: disease_ontology
id: DOID:10184
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: spindle cell lipoma
annotated property: IAO_0000115
annotated target: A lipoma that is an asymptomatic, slow-growing subcutaneous tumor that has a predilection for the posterior back, neck, and shoulders of older men.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Lipoma

esophageal lipoma
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A lipoma located in the esophagus.
has db xref: NCI:C5701
has db xref: UMLS_CUI:C1333455
has exact synonym: Lipoma of esophagus
has OBO namespace: disease_ontology
id: DOID:10187
in subset: NCIthesaurus

Axiom
annotated source: esophageal lipoma
annotated property: IAO_0000115
annotated target: A lipoma located in the esophagus.
has db xref: url:https://radiopaedia.org/articles/oesophageal-lipoma?lang=us
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5043252/

skin lipoma
type: Class
subclass of: skin benign neoplasm
IAO_0000115: A skin benign neoplasm that derives_from fat cells.
has alternative id: DOID:10198
has alternative id: DOID:3943
has db xref: ICD9CM:214.0
has db xref: NCI:C4616
has db xref: NCI:C5566
has db xref: SNOMEDCT_US_2023_03_01:255187008
has db xref: SNOMEDCT_US_2023_03_01:93159009
has db xref: UMLS_CUI:C0153968
has db xref: UMLS_CUI:C0347394
has db xref: UMLS_CUI:C1333174
has exact synonym: Cutaneous Lipoma
has exact synonym: Lipoma of skin
has exact synonym: cutaneous lipomatous tumor
has exact synonym: lipoma of face
has OBO namespace: disease_ontology
id: DOID:10188
in subset: NCIthesaurus

Axiom
annotated source: skin lipoma
annotated property: IAO_0000115
annotated target: A skin benign neoplasm that derives_from fat cells.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/23600336

liver lipoma
type: Class
subclass of: DOID 916
IAO_0000115: A lipoma located in the liver.
has db xref: NCI:C5750
has db xref: UMLS_CUI:C1333970
has exact synonym: Lipoma of the Liver
has exact synonym: hepatic lipoma
has OBO namespace: disease_ontology
id: DOID:10190
in subset: NCIthesaurus

Axiom
annotated source: liver lipoma
annotated property: IAO_0000115
annotated target: A lipoma located in the liver.
has db xref: url:https://radiopaedia.org/articles/hepatic-lipoma-2?lang=us

pleomorphic lipoma
type: Class
subclass of: lipoma
IAO_0000115: A lipoma that is characterized by floret giant cells with overlapping nuclei.
has db xref: ICDO:8854/0
has db xref: MESH:D008067
has db xref: NCI:C3703
has db xref: SNOMEDCT_US_2023_03_01:189783001
has db xref: UMLS_CUI:C0205823
has OBO namespace: disease_ontology
id: DOID:10192
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: pleomorphic lipoma
annotated property: IAO_0000115
annotated target: A lipoma that is characterized by floret giant cells with overlapping nuclei.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Pleomorphic_lipoma

conventional lipoma
type: Class
subclass of: lipoma
IAO_0000115: A lipoma that is characterized as a benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones.
has db xref: NCI:C27530
has db xref: UMLS_CUI:C1333059
has exact synonym: classic type lipoma
has OBO namespace: disease_ontology
id: DOID:10193
in subset: NCIthesaurus

Axiom
annotated source: conventional lipoma
annotated property: IAO_0000115
annotated target: A lipoma that is characterized as a benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/26857660/

kidney lipoma
type: Class
subclass of: kidney benign neoplasm
IAO_0000115: A lipoma that is located in the kidney.
has db xref: NCI:C5101
has db xref: UMLS_CUI:C1335744
has exact synonym: Lipoma of kidney
has OBO namespace: disease_ontology
id: DOID:10194
in subset: NCIthesaurus

Axiom
annotated source: kidney lipoma
annotated property: IAO_0000115
annotated target: A lipoma that is located in the kidney.
has db xref: url:https://www.mayoclinic.org/diseases-conditions/lipoma/symptoms-causes/syc-20374470

pleural lipoma
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A respiratory system benign neoplasm that derives_from fat cells and is located_in the pleura.
has db xref: NCI:C6644
has db xref: SNOMEDCT_US_2023_03_01:2460001000004103
has db xref: UMLS_CUI:C1335434
has exact synonym: Lipoma of Pleura
has OBO namespace: disease_ontology
id: DOID:10195
in subset: NCIthesaurus

Axiom
annotated source: pleural lipoma
annotated property: IAO_0000115
annotated target: A respiratory system benign neoplasm that derives_from fat cells and is located_in the pleura.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/29222220

breast lipoma
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A breast benign neoplasm that is composed of lipocytes.
has db xref: NCI:C4647
has db xref: SNOMEDCT_US_2023_03_01:276891009
has db xref: UMLS_CUI:C0349565
has exact synonym: Lipoma of breast
has OBO namespace: disease_ontology
id: DOID:10199
in subset: NCIthesaurus

Axiom
annotated source: breast lipoma
annotated property: IAO_0000115
annotated target: A breast benign neoplasm that is composed of lipocytes.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Benign_tumor

chest wall lipoma
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A thoracic benign neoplasm that derives_from fat cells and is located_in the chest wall.
has db xref: NCI:C6719
has db xref: SNOMEDCT_US_2023_03_01:448270009
has db xref: UMLS_CUI:C1332932
has exact synonym: Lipoma of the Chest Wall
has OBO namespace: disease_ontology
id: DOID:10200
in subset: NCIthesaurus

Axiom
annotated source: chest wall lipoma
annotated property: IAO_0000115
annotated target: A thoracic benign neoplasm that derives_from fat cells and is located_in the chest wall.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/23919840

gallbladder lipoma
type: Class
subclass of: gallbladder benign neoplasm
IAO_0000115: A gallbladder benign neoplasm that is located_in the gallbladder and derives_from fat cells.
has db xref: NCI:C5835
has db xref: UMLS_CUI:C1333747
has exact synonym: Lipoma of the gallbladder
has OBO namespace: disease_ontology
id: DOID:10201
in subset: NCIthesaurus

Axiom
annotated source: gallbladder lipoma
annotated property: IAO_0000115
annotated target: A gallbladder benign neoplasm that is located_in the gallbladder and derives_from fat cells.
type: ECO_0007645
has db xref: url:https://link.springer.com/referenceworkentry/10.1007%2F978-3-319-26587-2_156-1

external ear lipoma
type: Class
subclass of: auditory system benign neoplasm
IAO_0000115: An auditory system benign neoplasm that is located in the external ear.
has db xref: NCI:C4618
has db xref: SNOMEDCT_US_2023_03_01:188988008
has db xref: UMLS_CUI:C0347423
has exact synonym: Lipoma of external auditory meatus
has exact synonym: Lipoma of the External ear
has exact synonym: external auditory meatus lipoma
has OBO namespace: disease_ontology
id: DOID:10203
in subset: NCIthesaurus

Axiom
annotated source: external ear lipoma
annotated property: IAO_0000115
annotated target: An auditory system benign neoplasm that is located in the external ear.
has db xref: url:https://clinmedjournals.org/articles/ijdrt/journal-of-dermatology-research-and-therapy-ijdrt-1-010.pdf

axillary lipoma
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: An thoracic benign neoplasm that is located_in the axilla, an area directly under the arm and shoulder joint composed_of adipose tissue.
has db xref: NCI:C35419
has db xref: SNOMEDCT_US_2023_03_01:188993006
has db xref: UMLS_CUI:C0347429
has exact synonym: Lipoma of axilla
has OBO namespace: disease_ontology
id: DOID:10205
in subset: NCIthesaurus

Axiom
annotated source: axillary lipoma
annotated property: IAO_0000115
annotated target: An thoracic benign neoplasm that is located_in the axilla, an area directly under the arm and shoulder joint composed_of adipose tissue.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Axilla
has db xref: url:http://en.wikipedia.org/wiki/Lipoma

lipoma of spermatic cord
type: Class
subclass of: paratesticular lipoma
IAO_0000115: A paratesticular lipoma that is located_in the spermatic cord and derives_from fat cells.
has db xref: ICD9CM:214.4
has db xref: NCI:C3606
has db xref: SNOMEDCT_US_2023_03_01:93162007
has db xref: UMLS_CUI:C0153972
has exact synonym: Spermatic Cord Lipoma
has OBO namespace: disease_ontology
id: DOID:10206
in subset: NCIthesaurus

Axiom
annotated source: lipoma of spermatic cord
annotated property: IAO_0000115
annotated target: A paratesticular lipoma that is located_in the spermatic cord and derives_from fat cells.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1422475/

paratesticular lipoma
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A reproductive organ benign neoplasm that derives_from fat cells located_in the paratesticular region.
has db xref: NCI:C6384
has db xref: UMLS_CUI:C1335348
has OBO namespace: disease_ontology
id: DOID:10207
in subset: NCIthesaurus

Axiom
annotated source: paratesticular lipoma
annotated property: IAO_0000115
annotated target: A reproductive organ benign neoplasm that derives_from fat cells located_in the paratesticular region.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/11103506/

chondroid lipoma
type: Class
subclass of: lipoma
IAO_0000115: A lipoma that is a deep-seated, firm, yellow tumors that characteristically occur on the legs of women.
has db xref: ICDO:8862/0
has db xref: NCI:C6503
has db xref: SNOMEDCT_US_2023_03_01:404065000
has db xref: UMLS_CUI:C1266131
has OBO namespace: disease_ontology
id: DOID:10208
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: chondroid lipoma
annotated property: IAO_0000115
annotated target: A lipoma that is a deep-seated, firm, yellow tumors that characteristically occur on the legs of women.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Lipoma

extrahepatic bile duct lipoma
type: Class
subclass of: biliary tract benign neoplasm
IAO_0000115: A biliary tract benign neoplasm that is located_in the extrahepatic bile duct and derives_from fat cells.
has db xref: NCI:C5854
has db xref: UMLS_CUI:C1333509
has exact synonym: Lipoma of the extrahepatic bile duct
has OBO namespace: disease_ontology
id: DOID:10209
in subset: NCIthesaurus

Axiom
annotated source: extrahepatic bile duct lipoma
annotated property: IAO_0000115
annotated target: A biliary tract benign neoplasm that is located_in the extrahepatic bile duct and derives_from fat cells.
type: ECO_0007637
type: ECO_0007641
has db xref: url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/extrahepatic-bile-duct-cancer

pinta disease
type: Class
subclass of: bacterial infectious disease
IAO_0000115: A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Treponema carateum, which is transmitted_by contact with skin and mucous membrane of an infected person. The infection has_symptom pruritic plaque, which slowly enlarges and becomes pigmented and hyperkeratotic.
has alternative id: DOID:1021
has alternative id: DOID:10490
has alternative id: DOID:1813
has alternative id: DOID:3573
has db xref: GARD:7397
has db xref: ICD10CM:A67.0
has db xref: ICD10CM:A67.1
has db xref: ICD10CM:A67.2
has db xref: ICD10CM:A67.3
has db xref: ICD10CM:A67.9
has db xref: ICD9CM:103
has db xref: ICD9CM:103.0
has db xref: ICD9CM:103.1
has db xref: ICD9CM:103.2
has db xref: ICD9CM:103.3
has db xref: MESH:D010874
has db xref: NCI:C85011
has db xref: SNOMEDCT_US_2023_03_01:22064009
has db xref: SNOMEDCT_US_2023_03_01:240685007
has db xref: SNOMEDCT_US_2023_03_01:4669001
has db xref: SNOMEDCT_US_2023_03_01:68202005
has db xref: SNOMEDCT_US_2023_03_01:73594001
has db xref: UMLS_CUI:C0031946
has db xref: UMLS_CUI:C0153241
has db xref: UMLS_CUI:C0153242
has db xref: UMLS_CUI:C0153243
has db xref: UMLS_CUI:C0153244
has OBO namespace: disease_ontology
id: DOID:1022
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus
in subset: gram-negative bacterial infectious disease

Axiom
annotated source: pinta disease
annotated property: IAO_0000115
annotated target: A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Treponema carateum, which is transmitted_by contact with skin and mucous membrane of an infected person. The infection has_symptom pruritic plaque, which slowly enlarges and becomes pigmented and hyperkeratotic.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/26304920

dermatomyositis
type: Class
subclass of: DOID 633
IAO_0000115: A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction.
has db xref: GARD:6263
has db xref: ICD10CM:M33
has db xref: ICD9CM:710.3
has db xref: MESH:D003882
has db xref: NCI:C26744
has db xref: SNOMEDCT_US_2023_03_01:38826005
has db xref: UMLS_CUI:C0011633
has exact synonym: Polymyositis with skin involvement
has exact synonym: dermatopolymyositis
has OBO namespace: disease_ontology
has related synonym: Amyopathic dermatomyositis
id: DOID:10223
in subset: DO rare slim
in subset: NCIthesaurus
comment: MESH:C538250 added from NeuroDevNet [WAK].

Axiom
annotated source: dermatomyositis
annotated property: IAO_0000115
annotated target: A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Dermatomyositis
has db xref: url:http://www.myositis.org/learn-about-myositis/types-of-myositis/dermatomyositis

Axiom
annotated source: dermatomyositis
annotated property: hasRelatedSynonym
annotated target: Amyopathic dermatomyositis
has db xref: MESH:C538250

exhibitionism
type: Class
subclass of: disease of mental health
IAO_0000115: A paraphilia disorder that is characterized by recurrent sexual urges, fantasies, or behaviors involving the exposure of one's genitals to an unsuspecting stranger.
has db xref: ICD10CM:F65.2
has db xref: ICD9CM:302.4
has db xref: MESH:D005084
has db xref: NCI:C94352
has db xref: SNOMEDCT_US_2023_03_01:192514003
has db xref: UMLS_CUI:C0015269
has OBO namespace: disease_ontology
id: DOID:10236
in subset: NCIthesaurus

Axiom
annotated source: exhibitionism
annotated property: IAO_0000115
annotated target: A paraphilia disorder that is characterized by recurrent sexual urges, fantasies, or behaviors involving the exposure of one's genitals to an unsuspecting stranger.
has db xref: url:https://www.britannica.com/topic/exhibitionism

leprosy
type: Class
subclass of: bacterial infectious disease
IAO_0000115: A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage.
has db xref: EFO:0001054
has db xref: GARD:6886
has db xref: ICD10CM:A30
has db xref: ICD9CM:030
has db xref: MESH:D007918
has db xref: MIM:607572
has db xref: MIM:609888
has db xref: MIM:613407
has db xref: NCI:C84824
has db xref: ORDO:548
has db xref: SNOMEDCT_US_2023_03_01:154298007
has db xref: UMLS_CUI:C0023343
has OBO namespace: disease_ontology
id: DOID:1024
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus
in subset: gram-positive bacterial infectious disease
comment: Xref MGI.

Axiom
annotated source: leprosy
annotated property: IAO_0000115
annotated target: A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Leprosy

thalassemia
type: Class
subclass of: anemia
IAO_0000115: A microcytic anemia characterized by decreased synthesis of one or more hemoglobin polypeptide chains.
has alternative id: DOID:12242
has alternative id: DOID:12243
has db xref: GARD:7756
has db xref: ICD10CM:D56
has db xref: ICD9CM:282.4
has db xref: MESH:D013789
has db xref: NCI:C35069
has db xref: SNOMEDCT_US_2023_03_01:191192008
has db xref: UMLS_CUI:C0039730
has exact synonym: Sickle-cell thalassemia with crisis
has exact synonym: Sickle-cell thalassemia without crisis
has exact synonym: thalassemia Hb-S disease with crisis
has exact synonym: thalassemia Hb-S disease without crisis
has OBO namespace: disease_ontology
id: DOID:10241
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: thalassemia
annotated property: IAO_0000115
annotated target: A microcytic anemia characterized by decreased synthesis of one or more hemoglobin polypeptide chains.
type: ECO_0007645
has db xref: url:https://www.genome.gov/Genetic-Disorders/Thalassemia
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/11283697

otorrhea
type: Class
subclass of: auditory system disease
IAO_0000115: An auditory system disease that is characterized by the discharge or drainage of fluid from the ear.
has db xref: ICD10CM:H92.1
has db xref: ICD9CM:388.6
has db xref: NCI:C35199
has db xref: SNOMEDCT_US_2023_03_01:300132001
has db xref: UMLS_CUI:C0155540
has exact synonym: discharging ear
has OBO namespace: disease_ontology
id: DOID:10261
in subset: NCIthesaurus

Axiom
annotated source: otorrhea
annotated property: IAO_0000115
annotated target: An auditory system disease that is characterized by the discharge or drainage of fluid from the ear.
has db xref: url:https://medlineplus.gov/ency/article/003042.htm

mumps
type: Class
subclass of: DOID 934
IAO_0000115: A viral infectious disease that results in inflammation located in salivary gland, has_material_basis_in Mumps rubulavirus (Orthorubulavirus parotitidis), which is transmitted by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted by contaminated fomites. The infection has symptom fever, has symptom headache, has symptom muscle aches, has symptom tiredness, has symptom loss of appetite, has symptom swollen and tender salivary glands under the ears or jaw on one or both sides of the face.
has db xref: GARD:7116
has db xref: ICD10CM:B26
has db xref: ICD9CM:072
has db xref: MESH:D009107
has db xref: NCI:C29888
has db xref: SNOMEDCT_US_2023_03_01:154352008
has db xref: UMLS_CUI:C0026780
has OBO namespace: disease_ontology
id: DOID:10264
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: mumps
annotated property: IAO_0000115
annotated target: A viral infectious disease that results in inflammation located in salivary gland, has_material_basis_in Mumps rubulavirus (Orthorubulavirus parotitidis), which is transmitted by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted by contaminated fomites. The infection has symptom fever, has symptom headache, has symptom muscle aches, has symptom tiredness, has symptom loss of appetite, has symptom swollen and tender salivary glands under the ears or jaw on one or both sides of the face.
type: ECO_0007637
type: ECO_0007640
has db xref: url:https://medlineplus.gov/ency/article/001557.htm
has db xref: url:https://www.cdc.gov/mumps/about/
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK534785/

prostate cancer
type: Class
subclass of: male reproductive organ cancer
IAO_0000115: A male reproductive organ cancer that is located_in the prostate.
has alternative id: DOID:514
has db xref: ICD10CM:C61
has db xref: ICD9CM:185
has db xref: KEGG:05215
has db xref: MESH:D011471
has db xref: MIM:176807
has db xref: MIM:300147
has db xref: MIM:300704
has db xref: MIM:601518
has db xref: MIM:602759
has db xref: MIM:608656
has db xref: MIM:608658
has db xref: MIM:609299
has db xref: MIM:609558
has db xref: MIM:610321
has db xref: MIM:610997
has db xref: MIM:611100
has db xref: MIM:611868
has db xref: MIM:611928
has db xref: MIM:611955
has db xref: MIM:611958
has db xref: MIM:611959
has db xref: NCI:C3343
has db xref: NCI:C7378
has db xref: ORDO:1331
has db xref: SNOMEDCT_US_2023_03_01:126906006
has db xref: SNOMEDCT_US_2023_03_01:93974005
has db xref: UMLS_CUI:C0033578
has db xref: UMLS_CUI:C0376358
has exact synonym: NGP - new growth of prostate
has exact synonym: hereditary prostate cancer
has exact synonym: malignant tumor of the prostate
has exact synonym: prostate cancer, familial
has exact synonym: prostate neoplasm
has exact synonym: prostatic cancer
has exact synonym: prostatic neoplasm
has exact synonym: tumor of the prostate
has OBO namespace: disease_ontology
id: DOID:10283
in subset: DO CFDE slim
in subset: DO FlyBase slim
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: prostate cancer
annotated property: IAO_0000115
annotated target: A male reproductive organ cancer that is located_in the prostate.
type: ECO_0007637
type: ECO_0007641
has db xref: url:http://www.cancer.gov/dictionary?CdrID=445079
has db xref: url:https://www.genome.gov/Genetic-Disorders/Prostate-Cancer

prostate carcinoma
type: Class
subclass of: prostate cancer
IAO_0000115: A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
has db xref: EFO:0001663
has db xref: KEGG:05215
has db xref: NCI:C4863
has db xref: SNOMEDCT_US_2023_03_01:254900004
has db xref: UMLS_CUI:C0600139
has exact synonym: cancer of prostate
has exact synonym: carcinoma of prostate
has OBO namespace: disease_ontology
id: DOID:10286
in subset: DO RAD slim
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: prostate carcinoma
annotated property: IAO_0000115
annotated target: A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Carcinoma

prostate squamous cell carcinoma
type: Class
subclass of: prostate carcinoma
IAO_0000115: A squamous cell carcinoma that is located_in the prostate.
has db xref: NCI:C5536
has db xref: SNOMEDCT_US_2023_03_01:399590005
has db xref: UMLS_CUI:C1302530
has OBO namespace: disease_ontology
id: DOID:10287
in subset: NCIthesaurus

Axiom
annotated source: prostate squamous cell carcinoma
annotated property: IAO_0000115
annotated target: A squamous cell carcinoma that is located_in the prostate.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/23877521

prostate malignant phyllodes tumor
type: Class
subclass of: prostate cancer
IAO_0000115: A prostate cancer that is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia and that arises from the prostate gland.
has db xref: MESH:C549759
has db xref: NCI:C5531
has db xref: UMLS_CUI:C1334615
has exact synonym: malignant Phyllodes neoplasm of the prostate
has OBO namespace: disease_ontology
id: DOID:10289
in subset: NCIthesaurus

Axiom
annotated source: prostate malignant phyllodes tumor
annotated property: IAO_0000115
annotated target: A prostate cancer that is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia and that arises from the prostate gland.
has db xref: url:https://www.hindawi.com/journals/jo/2009/241270/

familial periodic paralysis
type: Class
subclass of: DOID 655
IAO_0000115: A metal metabolism disorder that is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally, and that are caused by mutations in genes involved in the sodium and calcium channels in nerve cells.
has db xref: GARD:6422
has db xref: ICD10CM:G72.3
has db xref: MESH:D010245
has db xref: NCI:C84709
has db xref: SNOMEDCT_US_2023_03_01:193241004
has db xref: UMLS_CUI:C0030443
has OBO namespace: disease_ontology
id: DOID:1029
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: familial periodic paralysis
annotated property: IAO_0000115
annotated target: A metal metabolism disorder that is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally, and that are caused by mutations in genes involved in the sodium and calcium channels in nerve cells.
has db xref: url:https://www.cedars-sinai.org/health-library/diseases-and-conditions/p/periodic-paralysis.html
has db xref: url:https://www.ninds.nih.gov/health-information/disorders/familial-periodic-paralyses

prostate lymphoma
type: Class
subclass of: prostate cancer
IAO_0000115: A prostate cancer that affects lymphocytes and arises from the prostate gland.
has db xref: NCI:C5533
has db xref: UMLS_CUI:C1335512
has exact synonym: lymphoma of prostate
has OBO namespace: disease_ontology
id: DOID:10290
in subset: NCIthesaurus

Axiom
annotated source: prostate lymphoma
annotated property: IAO_0000115
annotated target: A prostate cancer that affects lymphocytes and arises from the prostate gland.
has db xref: url:https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC6614933/

parotitis
type: Class
subclass of: mouth disease
IAO_0000115: A parotid disease characterized by the inflammation of one or both parotid glands.
has db xref: ICD10CM:K11.2
has db xref: MESH:D010309
has db xref: NCI:C114281
has db xref: SNOMEDCT_US_2023_03_01:196481002
has db xref: UMLS_CUI:C0030583
has OBO namespace: disease_ontology
id: DOID:10301
in subset: NCIthesaurus

Axiom
annotated source: parotitis
annotated property: IAO_0000115
annotated target: A parotid disease characterized by the inflammation of one or both parotid glands.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Parotitis

sialadenitis
type: Class
subclass of: mouth disease
IAO_0000115: A salivary gland disease that is characterized as an infection of the salivary glands.
has db xref: GARD:7638
has db xref: ICD10CM:K11.2
has db xref: ICD9CM:527.2
has db xref: MESH:D012793
has db xref: NCI:C26882
has db xref: SNOMEDCT_US_2023_03_01:42982001
has db xref: UMLS_CUI:C0037023
has exact synonym: Sialoadenitis
has OBO namespace: disease_ontology
id: DOID:10303
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: sialadenitis
annotated property: IAO_0000115
annotated target: A salivary gland disease that is characterized as an infection of the salivary glands.
has db xref: url:https://rarediseases.info.nih.gov/diseases/7638/sialadenitis

viral meningitis
type: Class
subclass of: DOID 9471
IAO_0000115: A meningitis that has_material_basis_in a viral infection.
has db xref: ICD10CM:A87
has db xref: ICD9CM:047.9
has db xref: MESH:D008587
has db xref: NCI:C118298
has db xref: SNOMEDCT_US_2023_03_01:154321007
has db xref: UMLS_CUI:C0025297
has OBO namespace: disease_ontology
id: DOID:10310
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: viral meningitis
annotated property: IAO_0000115
annotated target: A meningitis that has_material_basis_in a viral infection.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Viral_meningitis

endocarditis
type: Class
subclass of: heart disease
IAO_0000115: A endocardium disease characterized by inflammation of the endocardium of the heart chambers and valves.
has alternative id: DOID:14058
has db xref: ICD10CM:I33.9
has db xref: ICD9CM:421.9
has db xref: MESH:D004696
has db xref: NCI:C34582
has db xref: NCI:C35432
has db xref: SNOMEDCT_US_2023_03_01:56819008
has db xref: SNOMEDCT_US_2023_03_01:91357005
has db xref: UMLS_CUI:C0014118
has db xref: UMLS_CUI:C0375268
has OBO namespace: disease_ontology
id: DOID:10314
in subset: NCIthesaurus

Axiom
annotated source: endocarditis
annotated property: IAO_0000115
annotated target: A endocardium disease characterized by inflammation of the endocardium of the heart chambers and valves.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Endocarditis
has db xref: url:http://www.nhlbi.nih.gov/health/health-topics/topics/endo/

pneumoconiosis
type: Class
subclass of: interstitial lung disease
IAO_0000115: An interstitial lung disease that is caused by the inhalation of dust.
has db xref: ICD10CM:J64
has db xref: ICD9CM:505
has db xref: MESH:D011009
has db xref: NCI:C26861
has db xref: SNOMEDCT_US_2023_03_01:196004000
has db xref: UMLS_CUI:C0032273
has OBO namespace: disease_ontology
id: DOID:10316
in subset: NCIthesaurus

Axiom
annotated source: pneumoconiosis
annotated property: IAO_0000115
annotated target: An interstitial lung disease that is caused by the inhalation of dust.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Pneumoconiosis

mixed mineral dust pneumoconiosis
type: Class
subclass of: pneumoconiosis
IAO_0000115: A pneumoconiosis caused by the inhalation of mixed mineral dust particles.
has db xref: NCI:C27559
has db xref: SNOMEDCT_US_2023_03_01:233759002
has db xref: UMLS_CUI:C0340184
has OBO namespace: disease_ontology
id: DOID:10319
in subset: NCIthesaurus

Axiom
annotated source: mixed mineral dust pneumoconiosis
annotated property: IAO_0000115
annotated target: A pneumoconiosis caused by the inhalation of mixed mineral dust particles.
has db xref: url:https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC6928373/

asbestosis
type: Class
subclass of: pneumoconiosis
IAO_0000115: A pneumoconiosis caused by inhalation and retention of asbestos fibers.
has db xref: GARD:5852
has db xref: ICD10CM:J61
has db xref: ICD9CM:501
has db xref: MESH:D001195
has db xref: NCI:C84573
has db xref: SNOMEDCT_US_2023_03_01:266400008
has db xref: UMLS_CUI:C0003949
has OBO namespace: disease_ontology
id: DOID:10320
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: asbestosis
annotated property: IAO_0000115
annotated target: A pneumoconiosis caused by inhalation and retention of asbestos fibers.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Asbestosis

baritosis
type: Class
subclass of: pneumoconiosis
IAO_0000115: A pneumoconiosis that is characterized by the formation of fine dense lesions in the lung parenchyma, caused by long standing exposure to barium dust. The lesions do not affect the lung function and disappear without treatment after the exposure to barium dust stops.
has db xref: GARD:8371
has db xref: MESH:C537080
has db xref: NCI:C34410
has db xref: SNOMEDCT_US_2023_03_01:50076003
has db xref: UMLS_CUI:C0340177
has OBO namespace: disease_ontology
id: DOID:10321
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: baritosis
annotated property: IAO_0000115
annotated target: A pneumoconiosis that is characterized by the formation of fine dense lesions in the lung parenchyma, caused by long standing exposure to barium dust. The lesions do not affect the lung function and disappear without treatment after the exposure to barium dust stops.
has db xref: url:https://rarediseases.info.nih.gov/diseases/8371/baritosis

byssinosis
type: Class
subclass of: pneumoconiosis
IAO_0000115: A pneumoconiosis that is characterized by hypersensitive reaction to inhaled dust during the initial processing of cotton, flax, or hemp, and has symptoms of chest tightness, cough and wheezing.
has db xref: GARD:5976
has db xref: ICD10CM:J66.0
has db xref: MESH:D002095
has db xref: NCI:C84605
has db xref: SNOMEDCT_US_2023_03_01:155589004
has db xref: UMLS_CUI:C0006542
has exact synonym: Flax-dressers' disease
has exact synonym: Stripper's asthma
has exact synonym: cotton mill fever
has OBO namespace: disease_ontology
id: DOID:10323
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: byssinosis
annotated property: IAO_0000115
annotated target: A pneumoconiosis that is characterized by hypersensitive reaction to inhaled dust during the initial processing of cotton, flax, or hemp, and has symptoms of chest tightness, cough and wheezing.
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7767605/

anthracosilicosis
type: Class
subclass of: pneumoconiosis
IAO_0000115: A pneumoconiosis that is characterized by fibrosis of the lung parenchyma caused by inhalation of carbon and silica dust. It manifests as shortness of breath and induces fibrous nodule formation in the lung.
has db xref: ICD10CM:J60
has db xref: MESH:D000874
has db xref: NCI:C34389
has db xref: SNOMEDCT_US_2023_03_01:33548005
has db xref: UMLS_CUI:C0003164
has OBO namespace: disease_ontology
id: DOID:10324
in subset: NCIthesaurus

Axiom
annotated source: anthracosilicosis
annotated property: IAO_0000115
annotated target: A pneumoconiosis that is characterized by fibrosis of the lung parenchyma caused by inhalation of carbon and silica dust. It manifests as shortness of breath and induces fibrous nodule formation in the lung.
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4765255/

silicosis
type: Class
subclass of: pneumoconiosis
IAO_0000115: A pneumoconiosis that is an inflammation and scarring of the upper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles.
has alternative id: DOID:14007
has db xref: GARD:7647
has db xref: ICD10CM:J62.8
has db xref: ICD9CM:502
has db xref: MESH:D012829
has db xref: NCI:C3369
has db xref: SNOMEDCT_US_2023_03_01:155590008
has db xref: UMLS_CUI:C0037116
has exact synonym: Pneumoconiosis due to silicates
has exact synonym: Silica pneumoconiosis
has exact synonym: Silicotic fibrosis of lung
has exact synonym: silicotuberculosis
has OBO namespace: disease_ontology
id: DOID:10325
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: silicosis
annotated property: IAO_0000115
annotated target: A pneumoconiosis that is an inflammation and scarring of the upper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Silicosis
comment: ls:IEDB

anthracosis
type: Class
subclass of: pneumoconiosis
IAO_0000115: A pneumoconiosis that is characterized by deposition of carbon or coal dust in the lung parenchyma leading to the formation of black nodules and emphysema.
has db xref: ICD10CM:J60
has db xref: ICD9CM:500
has db xref: MESH:D055008
has db xref: NCI:C34390
has db xref: SNOMEDCT_US_2023_03_01:29422001
has db xref: UMLS_CUI:C0003165
has exact synonym: Coal Miner's Pneumoconiosis
has exact synonym: Coal workers' lung
has exact synonym: Coal workers' pneumoconiosis
has exact synonym: Melanoedema
has exact synonym: black lung
has OBO namespace: disease_ontology
id: DOID:10327
in subset: NCIthesaurus

Axiom
annotated source: anthracosis
annotated property: IAO_0000115
annotated target: A pneumoconiosis that is characterized by deposition of carbon or coal dust in the lung parenchyma leading to the formation of black nodules and emphysema.
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4386010/

pulmonary talcosis
type: Class
subclass of: pneumoconiosis
IAO_0000115: A pneumoconiosis that is characterized by fibrosis and granulomatous changes in the lung parenchyma and resulting from exposure to talc.
has db xref: ICD10CM:J62.0
has db xref: NCI:C27026
has db xref: SNOMEDCT_US_2023_03_01:73144008
has db xref: UMLS_CUI:C0238377
has exact synonym: pneumoconiosis due to talc
has exact synonym: talc pneumoconiosis
has exact synonym: talcosis
has OBO namespace: disease_ontology
id: DOID:10329
in subset: NCIthesaurus

Axiom
annotated source: pulmonary talcosis
annotated property: IAO_0000115
annotated target: A pneumoconiosis that is characterized by fibrosis and granulomatous changes in the lung parenchyma and resulting from exposure to talc.
has db xref: url:https://diagnosticpathology.biomedcentral.com/articles/10.1186/1746-1596-7-26
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/34390717/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/34401315/
has db xref: url:https://radiopaedia.org/articles/talcosis-1

slate pneumoconiosis
type: Class
subclass of: pneumoconiosis
IAO_0000115: A pneumoconiosis that is caused by exposure to slate dust.
has db xref: NCI:C35397
has db xref: SNOMEDCT_US_2023_03_01:1259003
has db xref: UMLS_CUI:C0340186
has exact synonym: Schistosis
has OBO namespace: disease_ontology
id: DOID:10330
in subset: NCIthesaurus

Axiom
annotated source: slate pneumoconiosis
annotated property: IAO_0000115
annotated target: A pneumoconiosis that is caused by exposure to slate dust.
has db xref: url:https://academic.oup.com/occmed/article/67/1/20/2420658
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/7426466/

kaolin pneumoconiosis
type: Class
subclass of: pneumoconiosis
IAO_0000115: A pneumoconiosis that is caused by inhalation of kaolin dust.
has db xref: GARD:8355
has db xref: NCI:C35315
has db xref: SNOMEDCT_US_2023_03_01:36696005
has db xref: UMLS_CUI:C0264435
has exact synonym: Kaolinosis
has OBO namespace: disease_ontology
id: DOID:10331
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: kaolin pneumoconiosis
annotated property: IAO_0000115
annotated target: A pneumoconiosis that is caused by inhalation of kaolin dust.
has db xref: url:https://www.amjmed.com/article/S0002-9343%2820%2930716-6/fulltext

solitary cyst of breast
type: Class
subclass of: breast cyst
IAO_0000115: A breast cyst that is characterized by single, fluid-filled cyst in the breast parenchyma.
has db xref: ICD10CM:N60.0
has db xref: ICD9CM:610.0
has db xref: NCI:C3378
has db xref: SNOMEDCT_US_2023_03_01:270538000
has db xref: UMLS_CUI:C0037619
has exact synonym: Solitary Cyst of the breast
has OBO namespace: disease_ontology
id: DOID:10349
in subset: NCIthesaurus

Axiom
annotated source: solitary cyst of breast
annotated property: IAO_0000115
annotated target: A breast cyst that is characterized by single, fluid-filled cyst in the breast parenchyma.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/14223874

aggressive NK-cell leukemia
type: Class
subclass of: leukemia
IAO_0000115: A leukemia that is characterized by the systemic proliferation of NK cells closely associated with Epstein-Barr virus and that is located_in the peripheral blood, bone marrow, liver, and spleen.
has db xref: ICD10CM:C94.8
has db xref: ICDO:9948/3
has db xref: NCI:C8647
has db xref: SNOMEDCT_US_2023_03_01:128833001
has db xref: UMLS_CUI:C1292777
has exact synonym: aggressive NK-cell leukaemia
has exact synonym: large granular Lymphocyte Leukemia, NK-cell type
has exact synonym: natural killer cell leukaemia
has exact synonym: natural killer cell leukemia
has OBO namespace: disease_ontology
id: DOID:1035
in subset: NCIthesaurus

Axiom
annotated source: aggressive NK-cell leukemia
annotated property: IAO_0000115
annotated target: A leukemia that is characterized by the systemic proliferation of NK cells closely associated with Epstein-Barr virus and that is located_in the peripheral blood, bone marrow, liver, and spleen.
has db xref: url:https://en.wikipedia.org/wiki/Aggressive_NK-cell_leukemia
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C8647
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6191480/

breast cyst
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A breast benign neoplasm that is characterized by a fluid-filled sac.
has db xref: ICD10CM:N60.0
has db xref: MESH:D047688
has db xref: NCI:C5315
has db xref: SNOMEDCT_US_2023_03_01:56726003
has db xref: UMLS_CUI:C0006144
has exact synonym: Cyst of the breast
has OBO namespace: disease_ontology
id: DOID:10350
in subset: NCIthesaurus

Axiom
annotated source: breast cyst
annotated property: IAO_0000115
annotated target: A breast benign neoplasm that is characterized by a fluid-filled sac.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Breast_cyst

fibrosclerosis of breast
type: Class
subclass of: DOID 5997
IAO_0000115: A non-proliferative fibrocystic change of the breast that contains scar tissue.
has db xref: ICD10CM:N60.3
has db xref: ICD9CM:610.3
has db xref: NCI:C3660
has db xref: SNOMEDCT_US_2023_03_01:29070004
has db xref: UMLS_CUI:C0156318
has exact synonym: Fibrosis of the breast
has OBO namespace: disease_ontology
id: DOID:10353
in subset: NCIthesaurus

Axiom
annotated source: fibrosclerosis of breast
annotated property: IAO_0000115
annotated target: A non-proliferative fibrocystic change of the breast that contains scar tissue.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Fibrosclerosis_of_breast

breast fibrocystic disease
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A breast benign neoplasm that has_material_basis_in fibrous tissue and is characterized by the development of cystic spaces.
has db xref: ICD10CM:N60.1
has db xref: ICD9CM:610.1
has db xref: MESH:D005348
has db xref: NCI:C3039
has db xref: SNOMEDCT_US_2023_03_01:198091009
has db xref: UMLS_CUI:C0016034
has exact synonym: Diffuse cystic mastopathy
has exact synonym: Fibrocystic disease of breast
has exact synonym: breast Fibrocystic Change
has OBO namespace: disease_ontology
id: DOID:10354
in subset: NCIthesaurus

Axiom
annotated source: breast fibrocystic disease
annotated property: IAO_0000115
annotated target: A breast benign neoplasm that has_material_basis_in fibrous tissue and is characterized by the development of cystic spaces.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/3511705

chronic leukemia
type: Class
subclass of: leukemia
IAO_0000115: A leukemia that develops slowly.
has db xref: NCI:C3483
has OBO namespace: disease_ontology
has related synonym: CLL
has related synonym: CML
has related synonym: adult chronic leukemia
id: DOID:1036
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: chronic leukemia
annotated property: IAO_0000115
annotated target: A leukemia that develops slowly.
type: ECO_0007644
has db xref: url:http://www.nlm.nih.gov/medlineplus/leukemiaadultchronic.html

Axiom
annotated source: chronic leukemia
annotated property: hasRelatedSynonym
annotated target: CLL
has synonym type: OMO_0003012

Axiom
annotated source: chronic leukemia
annotated property: hasRelatedSynonym
annotated target: CML
has synonym type: OMO_0003012

eosinophilic meningitis
type: Class
subclass of: DOID 9471
IAO_0000115: A chronic meningitis that is characterized by the presence of 10 or more eosinophils/microL in the cerebrospinal fluid (CSF) or a CSF eosinophilia of at least 10 percent. Symptoms of this condition range from mild headache to severe, throbbing headache, dizziness, nausea, vomiting, fever, neck stiffness, paresthesia, and stabbing pain in the trunk and limbs aggravated by touch.
has db xref: ICD9CM:322.1
has db xref: NCI:C128374
has db xref: SNOMEDCT_US_2023_03_01:25671008
has db xref: UMLS_CUI:C0154652
has OBO namespace: disease_ontology
id: DOID:10361
in subset: NCIthesaurus

Axiom
annotated source: eosinophilic meningitis
annotated property: IAO_0000115
annotated target: A chronic meningitis that is characterized by the presence of 10 or more eosinophils/microL in the cerebrospinal fluid (CSF) or a CSF eosinophilia of at least 10 percent. Symptoms of this condition range from mild headache to severe, throbbing headache, dizziness, nausea, vomiting, fever, neck stiffness, paresthesia, and stabbing pain in the trunk and limbs aggravated by touch.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/31972289/

epididymis cancer
type: Class
subclass of: male reproductive organ cancer
IAO_0000115: A male reproductive organ cancer that is located in the epididymis.
has db xref: ICD10CM:C63.0
has db xref: ICD9CM:187.5
has db xref: NCI:C3558
has db xref: SNOMEDCT_US_2023_03_01:363452003
has db xref: UMLS_CUI:C0153602
has exact synonym: malignant Epididymal tumor
has exact synonym: malignant neoplasm of epididymis
has exact synonym: malignant tumor of epididymis
has OBO namespace: disease_ontology
id: DOID:10366
in subset: NCIthesaurus

Axiom
annotated source: epididymis cancer
annotated property: IAO_0000115
annotated target: A male reproductive organ cancer that is located in the epididymis.
has db xref: url:https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC3720153/

epididymis adenocarcinoma
type: Class
subclass of: epididymis cancer
IAO_0000115: An epididymis cancer that derives_from epithelial cells of glandular origin.
has db xref: NCI:C39957
has db xref: UMLS_CUI:C1510784
has OBO namespace: disease_ontology
has related synonym: adenocarcinoma of the epididymis
id: DOID:10368
in subset: NCIthesaurus

Axiom
annotated source: epididymis adenocarcinoma
annotated property: IAO_0000115
annotated target: An epididymis cancer that derives_from epithelial cells of glandular origin.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Adenocarcinoma

lymphoid leukemia
type: Class
subclass of: leukemia
IAO_0000115: A leukemia that has_material_basis_in a B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood.
has alternative id: DOID:10747
has db xref: ICD10CM:C91
has db xref: ICD9CM:204
has db xref: ICDO:9820/3
has db xref: MESH:D007945
has db xref: NCI:C7539
has db xref: SNOMEDCT_US_2023_03_01:93170002
has db xref: UMLS_CUI:C0023448
has exact synonym: lymphoblastic leukaemia
has exact synonym: lymphoblastic leukemia
has exact synonym: lymphocytic leukaemia
has OBO namespace: disease_ontology
id: DOID:1037
in subset: DO RAD slim
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: lymphoid leukemia
annotated property: IAO_0000115
annotated target: A leukemia that has_material_basis_in a B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood.
type: ECO_0007641
has db xref: url:http://www.cancer.gov/dictionary?CdrID=616067

yaws
type: Class
subclass of: bacterial infectious disease
IAO_0000115: A primary bacterial infectious disease that results in infection located in skin, located in joint or located in bone, has_material_basis_in Treponema pallidum subsp pertenue, which is transmitted by direct skin contact with an infected person. The infection has symptom skin lesions.
has db xref: GARD:7913
has db xref: ICD10CM:A66
has db xref: ICD9CM:102
has db xref: MESH:D015001
has db xref: NCI:C41353
has db xref: SNOMEDCT_US_2023_03_01:266213004
has db xref: UMLS_CUI:C0043388
has exact synonym: Bouba
has exact synonym: frambesia
has exact synonym: frambesia tropica
has exact synonym: frambosie
has exact synonym: polypapilloma tropicum
has exact synonym: thymosis
has OBO namespace: disease_ontology
id: DOID:10371
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus
in subset: gram-negative bacterial infectious disease

Axiom
annotated source: yaws
annotated property: IAO_0000115
annotated target: A primary bacterial infectious disease that results in infection located in skin, located in joint or located in bone, has_material_basis_in Treponema pallidum subsp pertenue, which is transmitted by direct skin contact with an infected person. The infection has symptom skin lesions.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Yaws
has db xref: url:http://www.who.int/mediacentre/factsheets/fs316/en/

amblyopia
type: Class
subclass of: DOID 5614
IAO_0000115: An eye disease that is characterized by poor vision in one eye resulting from the brain failing to process inputs from one eye and over time favors the other eye. The weaker or lazy eye often wanders inward or outward.
has db xref: ICD10CM:H53.00
has db xref: ICD9CM:368.00
has db xref: MESH:D000550
has db xref: NCI:C118764
has db xref: SNOMEDCT_US_2023_03_01:155145007
has db xref: UMLS_CUI:C0002418
has exact synonym: lazy eye
has OBO namespace: disease_ontology
id: DOID:10376
in subset: NCIthesaurus

Axiom
annotated source: amblyopia
annotated property: IAO_0000115
annotated target: An eye disease that is characterized by poor vision in one eye resulting from the brain failing to process inputs from one eye and over time favors the other eye. The weaker or lazy eye often wanders inward or outward.
has db xref: url:https://en.wikipedia.org/wiki/Amblyopia
has db xref: url:https://www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/amblyopia-lazy-eye

prolymphocytic leukemia
type: Class
subclass of: chronic lymphocytic leukemia
IAO_0000115: A chronic lymphocytic leukemia that is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen.
has db xref: ICDO:9832/3
has db xref: MESH:D015463
has db xref: NCI:C3181
has db xref: SNOMEDCT_US_2023_03_01:110006004
has db xref: UMLS_CUI:C0023486
has exact synonym: PLL
has exact synonym: Prolymphocytic leukaemia
has OBO namespace: disease_ontology
id: DOID:1039
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: prolymphocytic leukemia
annotated property: IAO_0000115
annotated target: A chronic lymphocytic leukemia that is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen.
has db xref: url:https://cancer.ca/en/cancer-information/cancer-types/non-hodgkin-lymphoma/what-is-non-hodgkin-lymphoma/prolymphocytic-leukemias

Axiom
annotated source: prolymphocytic leukemia
annotated property: hasExactSynonym
annotated target: PLL
has synonym type: OMO_0003012

bacterial infectious disease
type: Class
subclass of: disease
IAO_0000115: A disease by infectious agent that results_in infection, has_material_basis_in Bacteria.
has db xref: ICD10CM:A49.9
has db xref: MESH:D001424
has db xref: NCI:C2890
has db xref: SNOMEDCT_US_2023_03_01:87628006
has db xref: UMLS_CUI:C0004623
has OBO namespace: disease_ontology
id: DOID:104
in subset: DO AGR slim
in subset: DO FlyBase slim
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: bacterial infectious disease
annotated property: IAO_0000115
annotated target: A disease by infectious agent that results_in infection, has_material_basis_in Bacteria.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Pathogenic_bacteria

chronic lymphocytic leukemia
type: Class
subclass of: lymphoid leukemia
IAO_0000115: A lymphocytic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood.
has db xref: EFO:0000095
has db xref: GARD:6104
has db xref: ICD10CM:C91.10
has db xref: ICD9CM:204.1
has db xref: MESH:D015451
has db xref: MIM:109543
has db xref: MIM:151400
has db xref: MIM:609630
has db xref: MIM:612557
has db xref: MIM:612558
has db xref: MIM:612559
has db xref: NCI:C3163
has db xref: ORDO:67038
has db xref: SNOMEDCT_US_2023_03_01:51092000
has db xref: UMLS_CUI:C0023434
has exact synonym: B-cell chronic lymphocytic leukaemia
has exact synonym: B-cell chronic lymphocytic leukemia
has exact synonym: CLL
has exact synonym: chronic lymphatic leukaemia
has exact synonym: chronic lymphatic leukemia
has exact synonym: chronic lymphocytic leukaemia
has exact synonym: lymphoplasmacytic leukaemia
has exact synonym: lymphoplasmacytic leukemia
has OBO namespace: disease_ontology
has related synonym: B-cell chronic lymphoid leukemia
id: DOID:1040
in subset: DO RAD slim
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: chronic lymphocytic leukemia
annotated property: IAO_0000115
annotated target: A lymphocytic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007641
has db xref: url:http://en.wikipedia.org/wiki/B-cell_chronic_lymphocytic_leukemia
has db xref: url:http://www.cancer.gov/dictionary?cdrid=346545

Axiom
annotated source: chronic lymphocytic leukemia
annotated property: hasExactSynonym
annotated target: CLL
has synonym type: OMO_0003012

acute pericementitis
type: Class
subclass of: DOID 824
has db xref: ICD9CM:523.33
has db xref: NCI:C34354
has db xref: SNOMEDCT_US_2023_03_01:155646007
has db xref: UMLS_CUI:C0001342
has exact synonym: acute periodontitis
has OBO namespace: disease_ontology
id: DOID:10423
in subset: NCIthesaurus

Klippel-Feil syndrome
type: Class
subclass of: disease
IAO_0000115: A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra.
has alternative id: DOID:14747
has db xref: GARD:10280
has db xref: ICD10CM:Q76.1
has db xref: ICD9CM:756.16
has db xref: MESH:D007714
has db xref: MIM:PS118100
has db xref: NCI:C98967
has db xref: ORDO:2345
has db xref: SNOMEDCT_US_2023_03_01:268349005
has db xref: UMLS_CUI:C0022738
has exact synonym: Klippel-Feil and Turner syndrome
has exact synonym: Klippel-Feil deformity, deafness and facial asymmetry
has exact synonym: autosomal dominant Klippel-Feil syndrome
has exact synonym: congenital dystrophia brevicollis
has exact synonym: congenital synostosis of cervical vertebrae
has OBO namespace: disease_ontology
id: DOID:10426
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Klippel-Feil syndrome
annotated property: IAO_0000115
annotated target: A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra.
type: ECO_0007638
type: ECO_0007646
has db xref: url:http://en.wikipedia.org/wiki/Klippel%E2%80%93Feil_syndrome
has db xref: url:http://www.ninds.nih.gov/disorders/klippel_feil/klippel_feil.htm
has db xref: url:http://www.wheelessonline.com/ortho/klippel_feil_syndrome

hypopyon
type: Class
subclass of: anterior uveitis
has db xref: ICD10CM:H20.05
has db xref: ICD9CM:364.05
has db xref: NCI:C50593
has db xref: SNOMEDCT_US_2023_03_01:87807004
has db xref: UMLS_CUI:C0020641
has OBO namespace: disease_ontology
id: DOID:10443
in subset: NCIthesaurus

tonsillitis
type: Class
subclass of: disease
IAO_0000115: An upper respiratory tract disease which is characterized by inflammation of the tonsils resulting from bacterial (Group A streptococcus) and viral (Epstein-Barr virus, adenovirus) infections. Symptoms include a severe sore throat, painful or difficult swallowing, coughing, headache, myalgia, fever and chills.
has alternative id: DOID:10454
has alternative id: DOID:13751
has db xref: ICD10CM:J35.01
has db xref: ICD9CM:474.00
has db xref: MESH:D014069
has db xref: NCI:C116006
has db xref: SNOMEDCT_US_2023_03_01:195665006
has db xref: SNOMEDCT_US_2023_03_01:195794009
has db xref: UMLS_CUI:C0040425
has db xref: UMLS_CUI:C0149517
has exact synonym: Throat infection - tonsillitis
has exact synonym: chronic tonsillitis
has OBO namespace: disease_ontology
id: DOID:10456
in subset: NCIthesaurus

Axiom
annotated source: tonsillitis
annotated property: IAO_0000115
annotated target: An upper respiratory tract disease which is characterized by inflammation of the tonsils resulting from bacterial (Group A streptococcus) and viral (Epstein-Barr virus, adenovirus) infections. Symptoms include a severe sore throat, painful or difficult swallowing, coughing, headache, myalgia, fever and chills.
type: ECO_0007638
type: ECO_0007643
has db xref: url:http://en.wikipedia.org/wiki/Tonsillitis
has db xref: url:https://www.merriam-webster.com/dictionary/tonsillitis#medicalDictionary

Legionnaires' disease
type: Class
subclass of: legionellosis
IAO_0000115: A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough.
has db xref: ICD10CM:A48.1
has db xref: ICD9CM:482.84
has db xref: MESH:D007877
has db xref: NCI:C128339
has db xref: SNOMEDCT_US_2023_03_01:195889001
has db xref: UMLS_CUI:C0023241
has exact synonym: Infection by Legionella pneumophilia
has exact synonym: Legionella
has exact synonym: Legionella pneumonia
has exact synonym: Legionnaire's disease
has OBO namespace: disease_ontology
id: DOID:10457
in subset: DO infectious disease slim
in subset: NCIthesaurus
in subset: gram-negative bacterial infectious disease

Axiom
annotated source: Legionnaires' disease
annotated property: IAO_0000115
annotated target: A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Legionellosis

legionellosis
type: Class
subclass of: bacterial infectious disease
IAO_0000115: A primary bacterial infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Legionella pneumophila, which is transmitted_by inhalation of droplets containing bacteria. The symptoms include dry cough, fever, headache and diarrhea.
has db xref: MESH:D007876
has db xref: NCI:C128334
has db xref: SNOMEDCT_US_2023_03_01:26726000
has db xref: UMLS_CUI:C0023240
has exact synonym: Legionella infection
has OBO namespace: disease_ontology
id: DOID:10458
in subset: DO infectious disease slim
in subset: NCIthesaurus
in subset: gram-negative bacterial infectious disease

Axiom
annotated source: legionellosis
annotated property: IAO_0000115
annotated target: A primary bacterial infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Legionella pneumophila, which is transmitted_by inhalation of droplets containing bacteria. The symptoms include dry cough, fever, headache and diarrhea.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Legionellosis
has db xref: url:http://www.cdc.gov/mmwr/preview/mmwrhtml/mm4934a1.htm

common cold
type: Class
subclass of: disease
IAO_0000115: An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus.
has db xref: ICD10CM:J00
has db xref: ICD9CM:460
has db xref: MESH:D003139
has db xref: NCI:C34500
has db xref: SNOMEDCT_US_2023_03_01:195648002
has db xref: UMLS_CUI:C0009443
has exact synonym: Acute viral rhinopharyngitis
has exact synonym: Nasopharyngitis - acute
has exact synonym: Nasopharyngitis, acute
has exact synonym: acute coryza
has exact synonym: acute nasopharyngitis
has exact synonym: acute rhinitis
has exact synonym: rhino-sinusitis
has OBO namespace: disease_ontology
id: DOID:10459
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: common cold
annotated property: IAO_0000115
annotated target: An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus.
type: ECO_0007640
type: ECO_0007643
has db xref: url:https://medlineplus.gov/commoncold.html
has db xref: url:https://www.merriam-webster.com/dictionary/common%20cold#medicalDictionary

nasopharyngitis
type: Class
subclass of: DOID 9561
IAO_0000115: A nasopharyngeal disease which involves inflammation of the nasal passages and upper part of the pharynx.
has alternative id: DOID:11587
has db xref: ICD10CM:J00
has db xref: ICD10CM:J31.1
has db xref: ICD9CM:472.2
has db xref: MESH:D009304
has db xref: NCI:C34837
has db xref: SNOMEDCT_US_2023_03_01:155524006
has db xref: SNOMEDCT_US_2023_03_01:51476001
has db xref: UMLS_CUI:C0027441
has db xref: UMLS_CUI:C0155826
has exact synonym: chronic nasopharyngitis
has OBO namespace: disease_ontology
id: DOID:10460
in subset: NCIthesaurus

Axiom
annotated source: nasopharyngitis
annotated property: IAO_0000115
annotated target: A nasopharyngeal disease which involves inflammation of the nasal passages and upper part of the pharynx.
type: ECO_0007641
type: ECO_0007643
has db xref: url:http://medical-dictionary.thefreedictionary.com/nasopharyngitis
has db xref: url:http://www.merriam-webster.com/medical/nasopharyngitis

diaphragmatic eventration
type: Class
subclass of: musculoskeletal system disease
has db xref: ICD10CM:Q79.1
has db xref: MESH:D003965
has db xref: NCI:C98912
has db xref: SNOMEDCT_US_2023_03_01:34168003
has db xref: UMLS_CUI:C0011981
has OBO namespace: disease_ontology
id: DOID:10480
in subset: NCIthesaurus

esophageal atresia
type: Class
subclass of: DOID 6050
has db xref: GARD:6381
has db xref: ICD10CM:Q39.0
has db xref: MESH:D004933
has db xref: NCI:C87072
has db xref: SNOMEDCT_US_2023_03_01:156947007
has db xref: UMLS_CUI:C0014850
has exact synonym: Congenital atresia of esophagus
has exact synonym: Congenital imperforate esophagus
has exact synonym: Imperforate esophagus
has exact synonym: Oesophageal atresia
has OBO namespace: disease_ontology
id: DOID:10485
in subset: DO rare slim
in subset: NCIthesaurus

intestinal atresia
type: Class
subclass of: DOID 5295
has db xref: ICD10CM:Q41.1
has db xref: MESH:D007409
has db xref: NCI:C84790
has db xref: UMLS_CUI:C0021828
has OBO namespace: disease_ontology
id: DOID:10486
in subset: NCIthesaurus

Hirschsprung's disease
type: Class
subclass of: megacolon
IAO_0000115: A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.
has db xref: GARD:6660
has db xref: ICD10CM:Q43.1
has db xref: MESH:D006627
has db xref: MIM:600156
has db xref: MIM:606874
has db xref: MIM:606875
has db xref: MIM:608462
has db xref: MIM:611644
has db xref: NCI:C34700
has db xref: ORDO:388
has db xref: SNOMEDCT_US_2023_03_01:204739008
has db xref: UMLS_CUI:C0019569
has exact synonym: Hirschsprung disease
has exact synonym: aganglionic megacolon
has exact synonym: congenital megacolon
has exact synonym: macrocolon
has exact synonym: pelvirectal achalasia
has exact synonym: total intestinal aganglionosis
has OBO namespace: disease_ontology
id: DOID:10487
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Hirschsprung's disease
annotated property: IAO_0000115
annotated target: A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.
type: ECO_0007638
type: ECO_0007640
has db xref: url:http://en.wikipedia.org/wiki/Hirschsprung%27s_disease
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/001140.htm
has db xref: url:http://www.uptodate.com/contents/congenital-aganglionic-megacolon-hirschsprung-disease
has db xref: url:https://www.niddk.nih.gov/health-information/digestive-diseases/hirschsprung-disease

imperforate anus
type: Class
subclass of: disease
has db xref: GARD:6769
has db xref: ICD10CM:Q42.3
has db xref: MESH:D001006
has db xref: MIM:207500
has db xref: MIM:301800
has db xref: NCI:C84784
has db xref: SNOMEDCT_US_2023_03_01:156956004
has db xref: UMLS_CUI:C0003466
has exact synonym: Congenital atresia of anus
has exact synonym: Congenital or infantile occlusion of anus
has exact synonym: anal atresia
has OBO namespace: disease_ontology
id: DOID:10488
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

adrenal cortical hypofunction
type: Class
subclass of: DOID 9553
has db xref: ICD9CM:255.4
has db xref: NCI:C26691
has db xref: SNOMEDCT_US_2023_03_01:68588005
has db xref: UMLS_CUI:C0405580
has exact synonym: Adrenal Cortical Insufficiency
has exact synonym: Corticoadrenal insufficiency
has OBO namespace: disease_ontology
id: DOID:10493
in subset: NCIthesaurus

orbital granuloma
type: Class
subclass of: DOID 65
has db xref: ICD10CM:H05.11
has db xref: ICD9CM:376.11
has db xref: NCI:C3653
has db xref: SNOMEDCT_US_2023_03_01:194008000
has db xref: UMLS_CUI:C0155262
has OBO namespace: disease_ontology
id: DOID:10499
in subset: NCIthesaurus

stomach cancer
type: Class
subclass of: gastrointestinal system cancer
IAO_0000115: A gastrointestinal system cancer that is located_in the stomach.
has alternative id: DOID:10539
has alternative id: DOID:10542
has alternative id: DOID:10543
has alternative id: DOID:4713
has db xref: GARD:7704
has db xref: ICD10CM:C16
has db xref: ICD10CM:C16.2
has db xref: ICD10CM:C16.5
has db xref: ICD10CM:C16.6
has db xref: ICD9CM:151
has db xref: ICD9CM:151.4
has db xref: ICD9CM:151.5
has db xref: ICD9CM:151.6
has db xref: MESH:D013274
has db xref: MIM:613659
has db xref: NCI:C3387
has db xref: NCI:C9331
has db xref: SNOMEDCT_US_2023_03_01:126824007
has db xref: SNOMEDCT_US_2023_03_01:269459004
has db xref: SNOMEDCT_US_2023_03_01:269460009
has db xref: SNOMEDCT_US_2023_03_01:93717002
has db xref: SNOMEDCT_US_2023_03_01:94074003
has db xref: UMLS_CUI:C0024623
has db xref: UMLS_CUI:C0038356
has db xref: UMLS_CUI:C0153421
has db xref: UMLS_CUI:C0153422
has db xref: UMLS_CUI:C0153423
has exact synonym: gastric cancer
has exact synonym: gastric neoplasm
has OBO namespace: disease_ontology
id: DOID:10534
in subset: DO CFDE slim
in subset: DO FlyBase slim
in subset: DO RAD slim
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: stomach cancer
annotated property: IAO_0000115
annotated target: A gastrointestinal system cancer that is located_in the stomach.
type: ECO_0007638
has db xref: url:http://cancergenome.nih.gov/cancersselected/stomach-esophagealcancer
has db xref: url:http://en.wikipedia.org/wiki/Stomach

malignant gastric granular cell tumor
type: Class
subclass of: stomach cancer
has db xref: NCI:C5484
has db xref: UMLS_CUI:C1334585
has exact synonym: malignant gastric granular cell tumour
has exact synonym: malignant granular cell tumor of stomach
has exact synonym: malignant granular cell tumour of stomach
has OBO namespace: disease_ontology
id: DOID:10536
in subset: NCIthesaurus

gastric lymphoma
type: Class
subclass of: stomach cancer
has db xref: GARD:6485
has db xref: NCI:C4636
has db xref: SNOMEDCT_US_2023_03_01:276811008
has db xref: UMLS_CUI:C0349532
has exact synonym: Lymphoma of the stomach
has OBO namespace: disease_ontology
id: DOID:10540
in subset: DO rare slim
in subset: NCIthesaurus

microinvasive gastric cancer
type: Class
subclass of: gastric adenocarcinoma
has db xref: NCI:C27131
has db xref: SNOMEDCT_US_2023_03_01:276809004
has db xref: UMLS_CUI:C0349530
has exact synonym: Surface gastric cancer
has exact synonym: early gastric cancer
has OBO namespace: disease_ontology
id: DOID:10541
in subset: NCIthesaurus

pylorus cancer
type: Class
subclass of: stomach cancer
has db xref: ICD10CM:C16.4
has db xref: ICD9CM:151.1
has db xref: NCI:C188051
has db xref: SNOMEDCT_US_2023_03_01:187736009
has db xref: UMLS_CUI:C0153418
has exact synonym: Ca pylorus - stomach
has exact synonym: malignant neoplasm of Prepylorus
has exact synonym: malignant neoplasm of pylorus of stomach
has exact synonym: malignant tumor of pylorus
has OBO namespace: disease_ontology
id: DOID:10544
in subset: NCIthesaurus

meningoencephalitis
type: Class
subclass of: central nervous system disease
IAO_0000115: A central nervous system disease that involves encephalitis which occurs along with meningitis.
has db xref: ICD10CM:A69.22
has db xref: MESH:D008590
has db xref: NCI:C34813
has db xref: SNOMEDCT_US_2023_03_01:7125002
has db xref: UMLS_CUI:C0025309
has OBO namespace: disease_ontology
id: DOID:10554
in subset: NCIthesaurus

Axiom
annotated source: meningoencephalitis
annotated property: IAO_0000115
annotated target: A central nervous system disease that involves encephalitis which occurs along with meningitis.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Encephalitis

oculocerebrorenal syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome that has_material_basis_in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney.
has db xref: GARD:3295
has db xref: ICD10CM:E72.03
has db xref: MEDDRA:10051707
has db xref: MESH:D009800
has db xref: MIM:309000
has db xref: NCI:C84940
has db xref: ORDO:534
has db xref: SNOMEDCT_US_2023_03_01:79385002
has db xref: UMLS_CUI:C0028860
has exact synonym: Lowe syndrome
has exact synonym: lowe oculocerebrorenal syndrome
has exact synonym: oculocerebrorenal syndrome of Lowe
has OBO namespace: disease_ontology
id: DOID:1056
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: oculocerebrorenal syndrome
annotated property: IAO_0000115
annotated target: A syndrome that has_material_basis_in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney.
type: ECO_0007636
type: ECO_0007637
has db xref: url:https://ghr.nlm.nih.gov/condition/lowe-syndrome
has db xref: url:https://www.omim.org/entry/309000

late yaws
type: Class
subclass of: yaws
IAO_0000115: A yaws that appears after five years of the initial infection and is characterized by disabling consequences of the nose, bones and palmar/plantar hyperkeratosis.
has alternative id: DOID:10370
has alternative id: DOID:10562
has db xref: ICD10CM:A66.1
has db xref: ICD10CM:A66.4
has db xref: ICD9CM:102.1
has db xref: ICD9CM:102.4
has db xref: NCI:C41354
has db xref: SNOMEDCT_US_2023_03_01:186968004
has db xref: UMLS_CUI:C0153234
has db xref: UMLS_CUI:C0276007
has db xref: UMLS_CUI:C1517744
has exact synonym: Gummata and ulcers due to yaws
has exact synonym: Gummata of yaws
has exact synonym: Ulcers of yaws
has exact synonym: Yaws gummata and ulcers
has exact synonym: gummatous frambeside
has exact synonym: multiple papillomata due to yaws and wet crab yaws
has exact synonym: nodular late yaws
has OBO namespace: disease_ontology
id: DOID:10567
in subset: DO infectious disease slim
in subset: NCIthesaurus
in subset: gram-negative bacterial infectious disease

Axiom
annotated source: late yaws
annotated property: IAO_0000115
annotated target: A yaws that appears after five years of the initial infection and is characterized by disabling consequences of the nose, bones and palmar/plantar hyperkeratosis.
type: ECO_0007637
has db xref: url:https://www.who.int/neglected_diseases/diseases/yaws/en/

early yaws
type: Class
subclass of: yaws
IAO_0000115: A yaws that results in initial papule at the site of entry of bacteria. Without treatment, this is followed by disseminated skin lesions over the body. Bone pain and bone lesions may also occur.
has alternative id: DOID:10563
has alternative id: DOID:10565
has db xref: ICD10CM:A66.0
has db xref: ICD10CM:A66.6
has db xref: ICD9CM:102.0
has db xref: ICD9CM:102.6
has db xref: NCI:C41352
has db xref: SNOMEDCT_US_2023_03_01:23191004
has db xref: SNOMEDCT_US_2023_03_01:266147005
has db xref: SNOMEDCT_US_2023_03_01:49442000
has db xref: UMLS_CUI:C0275990
has db xref: UMLS_CUI:C0275998
has db xref: UMLS_CUI:C0343834
has exact synonym: Frambesia, initial or primary
has exact synonym: Initial frambesial ulcer
has exact synonym: Initial lesions of yaws
has exact synonym: bone and joint lesions due to yaws
has exact synonym: bone and joint yaws lesion
has exact synonym: chancre of yaws
has exact synonym: primary frambesia
has OBO namespace: disease_ontology
id: DOID:10568
in subset: DO infectious disease slim
in subset: NCIthesaurus
in subset: gram-negative bacterial infectious disease

Axiom
annotated source: early yaws
annotated property: IAO_0000115
annotated target: A yaws that results in initial papule at the site of entry of bacteria. Without treatment, this is followed by disseminated skin lesions over the body. Bone pain and bone lesions may also occur.
type: ECO_0007637
has db xref: url:http://www.who.int/mediacentre/factsheets/fs316/en/

osteomalacia
type: Class
subclass of: DOID 65
IAO_0000115: A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone.
has db xref: GARD:7285
has db xref: ICD9CM:268.2
has db xref: NCI:C26838
has db xref: SNOMEDCT_US_2023_03_01:190639009
has db xref: UMLS_CUI:C0029442
has OBO namespace: disease_ontology
id: DOID:10573
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: osteomalacia
annotated property: IAO_0000115
annotated target: A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007640
type: ECO_0007646
has db xref: url:http://en.wikipedia.org/wiki/Osteomalacia
has db xref: url:http://my.clevelandclinic.org/disorders/osteomalacia/hic_osteomalacia.aspx
has db xref: url:http://www.mayoclinic.com/health/osteomalacia/DS00935
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/000376.htm
has db xref: url:http://www.wheelessonline.com/ortho/osteomalacia

leukodystrophy
type: Class
subclass of: DOID 936
IAO_0000115: A cerebral degeneration characterized by dysfunction of the white matter of the brain.
has db xref: GARD:6895
has db xref: ICD9CM:330.0
has db xref: NCI:C61253
has db xref: SNOMEDCT_US_2023_03_01:5101009
has db xref: UMLS_CUI:C0023520
has OBO namespace: disease_ontology
id: DOID:10579
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: leukodystrophy
annotated property: IAO_0000115
annotated target: A cerebral degeneration characterized by dysfunction of the white matter of the brain.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Leukodystrophy

metachromatic leukodystrophy
type: Class
subclass of: sphingolipidosis
IAO_0000115: A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.
has db xref: GARD:3230
has db xref: ICD10CM:E75.25
has db xref: MESH:D007966
has db xref: MIM:249900
has db xref: MIM:250100
has db xref: NCI:C61251
has db xref: ORDO:512
has db xref: SNOMEDCT_US_2023_03_01:3621006
has db xref: UMLS_CUI:C0023522
has exact synonym: MLD
has exact synonym: Scholz cerebral sclerosis
has exact synonym: arylsulfatase A deficiency
has exact synonym: deficiency of cerebroside-sulfatase
has exact synonym: sulfatide lipoidosis
has OBO namespace: disease_ontology
id: DOID:10581
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: metachromatic leukodystrophy
annotated property: IAO_0000115
annotated target: A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Metachromatic_leukodystrophy
has db xref: url:http://ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy

Axiom
annotated source: metachromatic leukodystrophy
annotated property: hasExactSynonym
annotated target: MLD
has synonym type: OMO_0003012

Refsum disease
type: Class
subclass of: DOID 655
IAO_0000115: A lipid metabolic disorder that is characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues.
has db xref: GARD:5691
has db xref: ICD10CM:G60.1
has db xref: ICD9CM:356.3
has db xref: MESH:D012035
has db xref: MIM:266500
has db xref: NCI:C85043
has db xref: ORDO:773
has db xref: SNOMEDCT_US_2023_03_01:25362006
has db xref: UMLS_CUI:C0034960
has exact synonym: HMSN type IV
has exact synonym: HSMN IV
has exact synonym: Heredopathia atactica polyneuritiformis
has exact synonym: Refsum's disease
has exact synonym: adult Refsum disease
has exact synonym: classic Refsum disease
has exact synonym: phytanic acid oxidase deficiency
has OBO namespace: disease_ontology
id: DOID:10582
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Refsum disease
annotated property: IAO_0000115
annotated target: A lipid metabolic disorder that is characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues.
has db xref: url:https://en.wikipedia.org/wiki/Refsum_disease
has db xref: url:https://medlineplus.gov/genetics/condition/refsum-disease/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/30578512/
has db xref: url:https://rarediseases.org/rare-diseases/refsum-disease/

Axiom
annotated source: Refsum disease
annotated property: hasExactSynonym
annotated target: HSMN IV
has synonym type: OMO_0003012

retinitis pigmentosa
type: Class
subclass of: DOID 8466
IAO_0000115: A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.
has alternative id: DOID:14742
has db xref: GARD:5694
has db xref: ICD10CM:H35.52
has db xref: MESH:C538365
has db xref: MESH:D012174
has db xref: MIM:268000
has db xref: MIM:PS268000
has db xref: NCI:C85045
has db xref: ORDO:791
has db xref: SNOMEDCT_US_2023_03_01:155113002
has db xref: UMLS_CUI:C0035334
has db xref: UMLS_CUI:C0220701
has exact synonym: pericentral pigmentary retinopathy
has OBO namespace: disease_ontology
id: DOID:10584
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: retinitis pigmentosa
annotated property: IAO_0000115
annotated target: A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/Retinitis_pigmentosa
has db xref: url:http://ghr.nlm.nih.gov/condition/retinitis-pigmentosa
has db xref: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4043609/
has db xref: url:https://www.genome.gov/Genetic-Disorders/Retinitis-Pigmentosa

Krabbe disease
type: Class
subclass of: sphingolipidosis
has db xref: GARD:6844
has db xref: ICD10CM:E75.23
has db xref: MESH:D007965
has db xref: MIM:245200
has db xref: NCI:C61254
has db xref: SNOMEDCT_US_2023_03_01:192782005
has db xref: UMLS_CUI:C0023521
has exact synonym: Diffuse globoid body sclerosis
has exact synonym: GLOBOID CELL LEUKOENCEPHALOPATHY
has exact synonym: Galactosylceramide beta-galactosidase deficiency
has exact synonym: Krabbe's disease
has exact synonym: Krabbe's leukodystrophy
has exact synonym: beta galactocerebrosidase deficiency
has exact synonym: globoid cell leukodystrophy
has OBO namespace: disease_ontology
id: DOID:10587
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

adrenoleukodystrophy
type: Class
subclass of: leukodystrophy
IAO_0000115: A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death.
has alternative id: DOID:13451
has db xref: ICD10CM:E71.52
has db xref: MESH:D000326
has db xref: MIM:300100
has db xref: NCI:C61252
has db xref: SNOMEDCT_US_2023_03_01:65389002
has db xref: UMLS_CUI:C0162309
has exact synonym: ALD
has exact synonym: Bronze Schilder disease
has exact synonym: Encephalitis periaxialis concentrica
has exact synonym: Encephalitis periaxialis, Schilder's
has exact synonym: Siemerling-Creutzfeldt Disease
has exact synonym: X-linked adrenoleukodystrophy
has exact synonym: diffuse sclerosis
has exact synonym: sudanophilic cerebral sclerosis
has OBO namespace: disease_ontology
id: DOID:10588
in subset: NCIthesaurus
comment: MESH:D000326w added from NeuroDevNet [WAK].

Axiom
annotated source: adrenoleukodystrophy
annotated property: IAO_0000115
annotated target: A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death.
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/Adrenoleukodystrophy
has db xref: url:https://ghr.nlm.nih.gov/condition/x-linked-adrenoleukodystrophy

Axiom
annotated source: adrenoleukodystrophy
annotated property: hasExactSynonym
annotated target: ALD
has synonym type: OMO_0003012

intellectual disability
type: Class
subclass of: disease of mental health
IAO_0000115: A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.
has db xref: NCI:C84392
has db xref: SNOMEDCT_US_2023_03_01:1855002
has db xref: UMLS_CUI:C0025362
has OBO namespace: disease_ontology
has related synonym: mental retardation
id: DOID:1059
in subset: DO FlyBase slim
in subset: NCIthesaurus
comment: OMIM mapping submitted by NeuroDevNet. [LS].

Axiom
annotated source: intellectual disability
annotated property: IAO_0000115
annotated target: A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.
type: ECO_0007638
has db xref: url:http://aaidd.org/intellectual-disability/definition#.WsPDT2VvqaU
has db xref: url:https://en.wikipedia.org/wiki/Intellectual_disability

pre-eclampsia
type: Class
subclass of: hypertension
IAO_0000115: A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.
has alternative id: DOID:12684
has db xref: ICD10CM:O14
has db xref: MESH:D011225
has db xref: MIM:189800
has db xref: MIM:609402
has db xref: MIM:609403
has db xref: MIM:609404
has db xref: NCI:C85021
has db xref: ORDO:275555
has db xref: SNOMEDCT_US_2023_03_01:6758009
has db xref: UMLS_CUI:C0032914
has exact synonym: gestational hypertension
has exact synonym: hypertension induced by pregnancy
has exact synonym: pre-eclamptic toxaemia
has exact synonym: preeclampsia
has exact synonym: preeclampsia/eclampsia
has exact synonym: pregnancy associated hypertension
has exact synonym: pregnancy toxemia
has exact synonym: proteinuric hypertension of pregnancy
has exact synonym: toxaemia of pregnancy
has OBO namespace: disease_ontology
id: DOID:10591
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: pre-eclampsia
annotated property: IAO_0000115
annotated target: A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/Pre-eclampsia
has db xref: url:http://ghr.nlm.nih.gov/condition/preeclampsia
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/24400024

Charcot-Marie-Tooth disease
type: Class
subclass of: neuromuscular disease
IAO_0000115: A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm.
has db xref: GARD:6034
has db xref: ICD10CM:G60.0
has db xref: ICD9CM:356.1
has db xref: MESH:D002607
has db xref: MIM:PS118220
has db xref: NCI:C75467
has db xref: SNOMEDCT_US_2023_03_01:193158000
has db xref: UMLS_CUI:C0007959
has exact synonym: CMT - Charcot-Marie-Tooth disease
has OBO namespace: disease_ontology
id: DOID:10595
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Charcot-Marie-Tooth disease
annotated property: IAO_0000115
annotated target: A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm.
type: ECO_0007637
has db xref: url:https://www.genome.gov/11009201
has db xref: url:https://www.genome.gov/Genetic-Disorders/Charcot-Marie-Tooth-Disease

pleural tuberculosis
type: Class
subclass of: bacterial infectious disease
IAO_0000115: An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac.
has alternative id: DOID:12624
has db xref: ICD10CM:A15.6
has db xref: ICD9CM:010.1
has db xref: ICD9CM:012.0
has db xref: MESH:D014396
has db xref: NCI:C26898
has db xref: SNOMEDCT_US_2023_03_01:186172004
has db xref: SNOMEDCT_US_2023_03_01:68706009
has db xref: UMLS_CUI:C0041326
has db xref: UMLS_CUI:C0152531
has exact synonym: Pearly disease
has exact synonym: Tuberculosis of pleura
has exact synonym: Tuberculous pleurisy
has exact synonym: Tuberculous pleuritis
has exact synonym: tuberculous pleurisy in primary progressive tuberculosis
has OBO namespace: disease_ontology
id: DOID:106
in subset: DO infectious disease slim
in subset: NCIthesaurus
in subset: gram-positive bacterial infectious disease

Axiom
annotated source: pleural tuberculosis
annotated property: IAO_0000115
annotated target: An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/17426219

Hartnup disease
type: Class
subclass of: DOID 9252
IAO_0000115: An amino acid metabolic disorder that is caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum.
has db xref: GARD:6569
has db xref: ICD10CM:E72.02
has db xref: MESH:D006250
has db xref: MIM:234500
has db xref: NCI:C84748
has db xref: SNOMEDCT_US_2023_03_01:80902009
has db xref: UMLS_CUI:C0018609
has exact synonym: Neutral 1 amino acid transport defect
has exact synonym: deficiency of tryptophan oxygenase
has exact synonym: neutral amino acid transport defect
has OBO namespace: disease_ontology
id: DOID:1060
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Hartnup disease
annotated property: IAO_0000115
annotated target: An amino acid metabolic disorder that is caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum.
type: ECO_0007643
has db xref: url:https://www.merriam-webster.com/medical/Hartnup

chronic tic disorder
type: Class
subclass of: disease of mental health
IAO_0000115: A tic disorder that is characterized by single or multiple motor or phonic tics, but not both, which are present for more than a year.
has db xref: ICD10CM:F95.1
has db xref: ICD9CM:307.22
has db xref: MESH:D013981
has db xref: NCI:C116768
has db xref: SNOMEDCT_US_2023_03_01:192623005
has db xref: UMLS_CUI:C0008701
has exact synonym: chronic motor or vocal tic disorder
has OBO namespace: disease_ontology
id: DOID:10600
in subset: NCIthesaurus

Axiom
annotated source: chronic tic disorder
annotated property: IAO_0000115
annotated target: A tic disorder that is characterized by single or multiple motor or phonic tics, but not both, which are present for more than a year.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Tic_disorder

glucose intolerance
type: Class
subclass of: hyperglycemia
has db xref: ICD10CM:R73.03
has db xref: MESH:D018149
has db xref: NCI:C34646
has db xref: SNOMEDCT_US_2023_03_01:267426009
has db xref: UMLS_CUI:C0271650
has exact synonym: Glucose malabsorption
has exact synonym: Malabsorption of glucose
has OBO namespace: disease_ontology
id: DOID:10603
in subset: NCIthesaurus

lactose intolerance
type: Class
subclass of: carbohydrate metabolic disorder
IAO_0000115: A carbohydrate metabolic disorder that is characterized by the impaired ability to digest lactose.
has db xref: ICD10CM:E73
has db xref: MESH:D007787
has db xref: MIM:223100
has db xref: NCI:C3154
has db xref: SNOMEDCT_US_2023_03_01:267497007
has db xref: UMLS_CUI:C0022951
has exact synonym: LM - Lactose malabsorption
has OBO namespace: disease_ontology
id: DOID:10604
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: lactose intolerance
annotated property: IAO_0000115
annotated target: A carbohydrate metabolic disorder that is characterized by the impaired ability to digest lactose.
has db xref: url:https://medlineplus.gov/genetics/condition/lactose-intolerance/

short bowel syndrome
type: Class
subclass of: DOID 5295
IAO_0000115: An intestinal disease that is characterized by a reduced ability to absorb nutrients due to the physical loss or the loss of function of a portion of the small and/or large intestine.
has db xref: MESH:D012778
has db xref: NCI:C99059
has db xref: SNOMEDCT_US_2023_03_01:204768009
has db xref: UMLS_CUI:C0036992
has exact synonym: acquired short bowel syndrome
has exact synonym: short gut syndrome
has OBO namespace: disease_ontology
id: DOID:10605
in subset: NCIthesaurus

Axiom
annotated source: short bowel syndrome
annotated property: IAO_0000115
annotated target: An intestinal disease that is characterized by a reduced ability to absorb nutrients due to the physical loss or the loss of function of a portion of the small and/or large intestine.
has db xref: url:https://rarediseases.org/rare-diseases/short-bowel-syndrome/

blind loop syndrome
type: Class
subclass of: DOID 5295
IAO_0000115: An intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption.
has db xref: ICD10CM:K90.2
has db xref: ICD9CM:579.2
has db xref: MESH:D001765
has db xref: NCI:C34431
has db xref: SNOMEDCT_US_2023_03_01:77225009
has db xref: UMLS_CUI:C0005750
has exact synonym: Bacterial overgrowth syndrome
has OBO namespace: disease_ontology
id: DOID:10606
in subset: NCIthesaurus

Axiom
annotated source: blind loop syndrome
annotated property: IAO_0000115
annotated target: An intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption.
type: ECO_0007638
type: ECO_0007645
has db xref: url:https://en.wikipedia.org/wiki/Blind_loop_syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/20572300

tropical sprue
type: Class
subclass of: DOID 5295
has db xref: GARD:7824
has db xref: ICD10CM:K90.1
has db xref: ICD9CM:579.1
has db xref: MESH:D013182
has db xref: NCI:C45428
has db xref: SNOMEDCT_US_2023_03_01:155846005
has db xref: UMLS_CUI:C0038054
has exact synonym: Sprue - tropical
has exact synonym: Tropical steatorrhea
has OBO namespace: disease_ontology
id: DOID:10607
in subset: DO rare slim
in subset: NCIthesaurus

celiac disease
type: Class
subclass of: disease
IAO_0000115: An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.
has db xref: EFO:0001060
has db xref: GARD:11998
has db xref: ICD10CM:K90.0
has db xref: ICD9CM:579.0
has db xref: MESH:D002446
has db xref: MIM:607202
has db xref: MIM:609754
has db xref: MIM:611598
has db xref: MIM:612005
has db xref: MIM:612006
has db xref: MIM:612007
has db xref: MIM:612008
has db xref: MIM:612009
has db xref: MIM:612011
has db xref: NCI:C26714
has db xref: ORDO:555
has db xref: SNOMEDCT_US_2023_03_01:197477005
has db xref: UMLS_CUI:C0007570
has exact synonym: celiac sprue
has exact synonym: coeliac disease
has exact synonym: idiopathic steatorrhea
has OBO namespace: disease_ontology
id: DOID:10608
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: celiac disease
annotated property: IAO_0000115
annotated target: An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.
type: ECO_0007638
type: ECO_0007640
has db xref: url:http://en.wikipedia.org/wiki/Coeliac_disease
has db xref: url:http://www.celiac.org/
has db xref: url:http://www.mayoclinic.com/health/celiac-disease/DS00319
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/000233.htm
has db xref: url:https://www.niddk.nih.gov/health-information/digestive-diseases/celiac-disease

rickets
type: Class
subclass of: DOID 65
IAO_0000115: A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone.
has alternative id: DOID:11672
has db xref: GARD:5700
has db xref: ICD10CM:E55.0
has db xref: MESH:D012279
has db xref: NCI:C26878
has db xref: SNOMEDCT_US_2023_03_01:190639009
has db xref: UMLS_CUI:C0035579
has exact synonym: active rickets
has OBO namespace: disease_ontology
id: DOID:10609
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: rickets
annotated property: IAO_0000115
annotated target: A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007640
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/Rickets
has db xref: url:http://www.mayoclinic.com/health/rickets/DS00813
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/000344.htm
has db xref: url:http://www.umm.edu/ency/article/000344.htm
has db xref: url:https://en.wikipedia.org/wiki/Rickets#Types
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/26365554

acute cervicitis
type: Class
subclass of: cervicitis
IAO_0000115: A cervicitis that is characterized by onset within the past 1 - 3 days.
has db xref: NCI:C27056
has db xref: SNOMEDCT_US_2023_03_01:19272000
has db xref: UMLS_CUI:C0269061
has OBO namespace: disease_ontology
id: DOID:10616
in subset: NCIthesaurus

Axiom
annotated source: acute cervicitis
annotated property: IAO_0000115
annotated target: A cervicitis that is characterized by onset within the past 1 - 3 days.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/23606387

lymph node cancer
type: Class
subclass of: cancer
IAO_0000115: A lymphatic system cancer that is located_in the lymph node.
has alternative id: DOID:10438
has db xref: GARD:6932
has db xref: NCI:C35497
has db xref: SNOMEDCT_US_2023_03_01:127232002
has db xref: UMLS_CUI:C0596869
has exact synonym: lymph node neoplasm
has OBO namespace: disease_ontology
id: DOID:10619
in subset: DO rare slim
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim

Axiom
annotated source: lymph node cancer
annotated property: IAO_0000115
annotated target: A lymphatic system cancer that is located_in the lymph node.
type: ECO_0007637
has db xref: url:https://www.mountsinai.org/health-library/special-topic/cancer-and-lymph-nodes

Fanconi syndrome
type: Class
subclass of: DOID 557
IAO_0000115: A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting.
has alternative id: DOID:5956
has db xref: GARD:9118
has db xref: MESH:D005198
has db xref: MIM:PS134600
has db xref: NCI:C3034
has db xref: NCI:C4377
has db xref: ORDO:3337
has db xref: SNOMEDCT_US_2023_03_01:236468006
has db xref: SNOMEDCT_US_2023_03_01:40488004
has db xref: UMLS_CUI:C0015624
has db xref: UMLS_CUI:C0341703
has exact synonym: Congenital Fanconi syndrome
has exact synonym: De Toni-Fanconi syndrome
has exact synonym: Fanconi-de Toni syndrome
has exact synonym: Fanconi-de-Toni syndrome
has exact synonym: Infantile nephropathic cystinosis
has exact synonym: Lignac-Fanconi syndrome
has exact synonym: adult Fanconi Anemia
has exact synonym: adult Fanconi syndrome
has exact synonym: deToni Fanconi syndrome
has OBO namespace: disease_ontology
id: DOID:1062
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Fanconi syndrome
annotated property: IAO_0000115
annotated target: A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007640
has db xref: url:http://en.wikipedia.org/wiki/Fanconi_syndrome
has db xref: url:http://www.merckmanuals.com/professional/genitourinary_disorders/renal_transport_abnormalities/fanconi_syndrome.html
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/000333.htm

microphthalmia
type: Class
subclass of: DOID 5614
IAO_0000115: An eye disease where one or both eyeballs are abnormally small.
has alternative id: DOID:10650
has db xref: GARD:12085
has db xref: ICD10CM:Q11.2
has db xref: ICD9CM:743.1
has db xref: MESH:D008850
has db xref: NCI:C98989
has db xref: SNOMEDCT_US_2023_03_01:156902006
has db xref: UMLS_CUI:C0026010
has exact synonym: microphthalmos
has exact synonym: simple microphthalmos
has OBO namespace: disease_ontology
id: DOID:10629
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: microphthalmia
annotated property: IAO_0000115
annotated target: An eye disease where one or both eyeballs are abnormally small.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Microphthalmia
has db xref: url:http://ghr.nlm.nih.gov/condition/microphthalmia

interstitial nephritis
type: Class
subclass of: nephritis
has db xref: ICD10CM:N12
has db xref: MESH:D009395
has db xref: NCI:C26834
has db xref: SNOMEDCT_US_2023_03_01:28689008
has db xref: UMLS_CUI:C0027707
has exact synonym: renal tubulo-interstitial disease
has OBO namespace: disease_ontology
id: DOID:1063
in subset: NCIthesaurus

Wolfram syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome that is characterized by diabetes mellitus, optic atrophy, and deafness.
has db xref: GARD:7898
has db xref: MESH:D014929
has db xref: NCI:C35133
has db xref: ORDO:3463
has db xref: SNOMEDCT_US_2023_03_01:70694009
has db xref: UMLS_CUI:C0043207
has exact synonym: WFS
has OBO namespace: disease_ontology
id: DOID:10632
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: Wolfram syndrome
annotated property: IAO_0000115
annotated target: A syndrome that is characterized by diabetes mellitus, optic atrophy, and deafness.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Wolfram_syndrome

Axiom
annotated source: Wolfram syndrome
annotated property: hasExactSynonym
annotated target: WFS
has synonym type: OMO_0003012

cystinosis
type: Class
subclass of: lysosomal storage disease
IAO_0000115: A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17.
has db xref: GARD:6236
has db xref: MESH:D003554
has db xref: MIM:219750
has db xref: MIM:219800
has db xref: MIM:219900
has db xref: NCI:C129932
has db xref: ORDO:213
has db xref: SNOMEDCT_US_2023_03_01:62332007
has db xref: UMLS_CUI:C2931187
has exact synonym: cystine storage disease
has OBO namespace: disease_ontology
id: DOID:1064
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: cystinosis
annotated property: IAO_0000115
annotated target: A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://ghr.nlm.nih.gov/condition/cystinosis
has db xref: url:https://en.wikipedia.org/wiki/Cystinosis
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/12110740

schizotypal personality disorder
type: Class
subclass of: disease of mental health
IAO_0000115: A personality disorder that involves a need for social isolation, anxiety in social situations, odd behavior and thinking, and often unconventional beliefs.
has db xref: ICD10CM:F21
has db xref: ICD9CM:301.22
has db xref: MESH:D012569
has db xref: NCI:C92632
has db xref: SNOMEDCT_US_2023_03_01:231486008
has db xref: UMLS_CUI:C0036363
has OBO namespace: disease_ontology
id: DOID:10646
in subset: NCIthesaurus

Axiom
annotated source: schizotypal personality disorder
annotated property: IAO_0000115
annotated target: A personality disorder that involves a need for social isolation, anxiety in social situations, odd behavior and thinking, and often unconventional beliefs.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Schizotypal_personality_disorder

Alzheimer's disease
type: Class
subclass of: neurodegenerative disease
IAO_0000115: A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and 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.
has db xref: GARD:10254
has db xref: ICD10CM:G30
has db xref: ICD9CM:331.0
has db xref: KEGG:05010
has db xref: MESH:D000544
has db xref: NCI:C2866
has db xref: SNOMEDCT_US_2023_03_01:73768007
has db xref: UMLS_CUI:C0002395
has exact synonym: Alzheimer disease
has exact synonym: Alzheimers dementia
has OBO namespace: disease_ontology
id: DOID:10652
in subset: DO RAD slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Alzheimer's disease
annotated property: IAO_0000115
annotated target: A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and 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.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007643
has db xref: url:http://en.wikipedia.org/wiki/Alzheimer%27s_disease
has db xref: url:http://www.merriam-webster.com/medical/alzheimer%27s%20disease
has db xref: url:http://www.nia.nih.gov/alzheimers/publication/alzheimers-disease-fact-sheet
comment: ls:IEDB

lipoma of colon
type: Class
subclass of: DOID 6460
has db xref: NCI:C5493
has db xref: UMLS_CUI:C0940607
has exact synonym: Colonic Lipoma
has OBO namespace: disease_ontology
id: DOID:10655
in subset: NCIthesaurus

colon leiomyoma
type: Class
subclass of: DOID 5295
has db xref: NCI:C5492
has db xref: UMLS_CUI:C1333092
has exact synonym: Colonic leiomyoma
has OBO namespace: disease_ontology
id: DOID:10656
in subset: NCIthesaurus

colonic lymphangioma
type: Class
subclass of: colonic benign neoplasm
has db xref: NCI:C5500
has db xref: UMLS_CUI:C1333094
has exact synonym: Lymphangioma of colon
has OBO namespace: disease_ontology
id: DOID:10657
in subset: NCIthesaurus

mediastinum neuroblastoma
type: Class
subclass of: DOID 4691
IAO_0000115: A malignant mediastinal neurogenic neoplasm that has_material_basis_in immature nerve cells.
has db xref: NCI:C6628
has db xref: UMLS_CUI:C1334673
has exact synonym: neuroblastoma of mediastinum
has OBO namespace: disease_ontology
id: DOID:10660
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: mediastinum neuroblastoma
annotated property: IAO_0000115
annotated target: A malignant mediastinal neurogenic neoplasm that has_material_basis_in immature nerve cells.
type: ECO_0007637
type: ECO_0007641
has db xref: url:http://www.cancer.gov/dictionary?CdrID=45418

mediastinum ganglioneuroblastoma
type: Class
subclass of: DOID 4691
has db xref: NCI:C6627
has db xref: UMLS_CUI:C1334653
has exact synonym: Ganglioneuroblastoma of mediastinum
has OBO namespace: disease_ontology
id: DOID:10661
in subset: NCIthesaurus

open-angle glaucoma
type: Class
subclass of: glaucoma
IAO_0000115: A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage.
has db xref: EFO:0004190
has db xref: ICD10CM:H40.1
has db xref: ICD9CM:365.1
has db xref: MESH:D005902
has db xref: MIM:177700
has db xref: MIM:602429
has db xref: MIM:603383
has db xref: MIM:606689
has db xref: MIM:608695
has db xref: MIM:608696
has db xref: MIM:609745
has db xref: MIM:609887
has db xref: MIM:610535
has db xref: MIM:611274
has db xref: MIM:611276
has db xref: MIM:613100
has db xref: NCI:C34641
has db xref: SNOMEDCT_US_2023_03_01:84494001
has db xref: UMLS_CUI:C0017612
has exact synonym: Wide-angle glaucoma
has exact synonym: glaucoma simplex
has exact synonym: open angle glaucoma
has exact synonym: pigmentary glaucoma
has OBO namespace: disease_ontology
id: DOID:1067
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: open-angle glaucoma
annotated property: IAO_0000115
annotated target: A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Glaucoma
has db xref: url:http://www.merckmanuals.com/professional/eye_disorders/glaucoma/primary_open-angle_glaucoma.html

lactocele
type: Class
subclass of: breast cyst
IAO_0000115: A breast cyst that develops during or shortly after lactation and is characterized by retention of milk or a milky substance that is usually located_in the mammary glands.
has db xref: ICD10CM:N64.89
has db xref: ICD9CM:611.5
has db xref: MESH:C535998
has db xref: NCI:C3515
has db xref: SNOMEDCT_US_2023_03_01:42385006
has db xref: UMLS_CUI:C0152243
has exact synonym: Galactocele
has OBO namespace: disease_ontology
id: DOID:10686
in subset: NCIthesaurus

Axiom
annotated source: lactocele
annotated property: IAO_0000115
annotated target: A breast cyst that develops during or shortly after lactation and is characterized by retention of milk or a milky substance that is usually located_in the mammary glands.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Galactocele

hypertrophy of breast
type: Class
subclass of: breast disease
IAO_0000115: A breast disease that is characterized by the progressive, excessive enlargement of breast connective tissue.
has db xref: ICD10CM:N62
has db xref: ICD9CM:611.1
has db xref: NCI:C3125
has db xref: SNOMEDCT_US_2023_03_01:43336006
has db xref: UMLS_CUI:C0020565
has exact synonym: breasts enlarged
has exact synonym: large breast
has OBO namespace: disease_ontology
id: DOID:10688
in subset: NCIthesaurus

Axiom
annotated source: hypertrophy of breast
annotated property: IAO_0000115
annotated target: A breast disease that is characterized by the progressive, excessive enlargement of breast connective tissue.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Breast_hypertrophy

mastitis
type: Class
subclass of: breast disease
IAO_0000115: A breast disease characterized by painful infection of the breast tissue.
has db xref: MESH:D008413
has db xref: NCI:C53662
has db xref: SNOMEDCT_US_2023_03_01:155952005
has db xref: UMLS_CUI:C0024894
has exact synonym: Inflammatory breast disease
has exact synonym: Inflammatory disease of breast
has exact synonym: breast inflammation
has OBO namespace: disease_ontology
id: DOID:10690
in subset: NCIthesaurus

Axiom
annotated source: mastitis
annotated property: IAO_0000115
annotated target: A breast disease characterized by painful infection of the breast tissue.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/25940456

fat necrosis of breast
type: Class
subclass of: breast disease
IAO_0000115: A breast disease that is characterized by the death of breast adipocytes, usually secondary to injury.
has db xref: ICD10CM:N64.1
has db xref: ICD9CM:611.3
has db xref: NCI:C3661
has db xref: SNOMEDCT_US_2023_03_01:21381006
has db xref: UMLS_CUI:C0156321
has exact synonym: breast Fat necrosis
has OBO namespace: disease_ontology
id: DOID:10691
in subset: NCIthesaurus

Axiom
annotated source: fat necrosis of breast
annotated property: IAO_0000115
annotated target: A breast disease that is characterized by the death of breast adipocytes, usually secondary to injury.
type: ECO_0007637
has db xref: url:https://www.cancer.org/cancer/breast-cancer/non-cancerous-breast-conditions/fat-necrosis-and-oil-cysts-in-the-breast.html

paragonimiasis
type: Class
subclass of: DOID 883
IAO_0000115: A parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus Paragonimus. In the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegaly, pulmonary abnormalities, and eosinophilia. Pulmonary manifestations include cough, expectoration of discolored sputum, hemoptysis, and chest radiographic abnormalities. Various organs like brain, spleen and liver can be infected.
has db xref: GARD:9815
has db xref: ICD10CM:B66.4
has db xref: ICD9CM:121.2
has db xref: MESH:D010237
has db xref: NCI:C84995
has db xref: SNOMEDCT_US_2023_03_01:30369007
has db xref: UMLS_CUI:C0030424
has exact synonym: Infection by Paragonimus
has exact synonym: lung fluke disease
has exact synonym: lung fluke infection
has exact synonym: pulmonary paragonimiasis
has OBO namespace: disease_ontology
id: DOID:10699
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: paragonimiasis
annotated property: IAO_0000115
annotated target: A parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus Paragonimus. In the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegaly, pulmonary abnormalities, and eosinophilia. Pulmonary manifestations include cough, expectoration of discolored sputum, hemoptysis, and chest radiographic abnormalities. Various organs like brain, spleen and liver can be infected.
type: ECO_0007637
has db xref: url:http://www.dpd.cdc.gov/dpdx/HTML/Paragonimiasis.htm

primary open angle glaucoma
type: Class
subclass of: open-angle glaucoma
IAO_0000115: An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.
has db xref: ICD10CM:H40.11
has db xref: ICD9CM:365.11
has db xref: MESH:D005902
has db xref: MIM:137760
has db xref: NCI:C35394
has db xref: SNOMEDCT_US_2023_03_01:77075001
has db xref: UMLS_CUI:C0339573
has exact synonym: chronic simple glaucoma
has OBO namespace: disease_ontology
id: DOID:1070
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: primary open angle glaucoma
annotated property: IAO_0000115
annotated target: An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5464971/

renal hypertension
type: Class
subclass of: secondary hypertension
has db xref: MESH:D006977
has db xref: NCI:C3121
has db xref: SNOMEDCT_US_2023_03_01:194775007
has db xref: UMLS_CUI:C0020544
has OBO namespace: disease_ontology
id: DOID:1073
in subset: NCIthesaurus

kidney failure
type: Class
subclass of: DOID 557
IAO_0000115: A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.
has db xref: ICD10CM:N19
has db xref: ICD9CM:586
has db xref: MESH:D051437
has db xref: NCI:C4376
has db xref: SNOMEDCT_US_2023_03_01:42399005
has db xref: UMLS_CUI:C0035078
has exact synonym: renal failure
has OBO namespace: disease_ontology
id: DOID:1074
in subset: NCIthesaurus
comment: PRISM.

Axiom
annotated source: kidney failure
annotated property: IAO_0000115
annotated target: A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.
type: ECO_0007638
type: ECO_0007644
has db xref: url:http://en.wikipedia.org/wiki/Renal_failure
has db xref: url:http://www.nlm.nih.gov/medlineplus/kidneyfailure.html

broad ligament malignant neoplasm
type: Class
subclass of: uterine cancer
IAO_0000115: A uterine adnexa cancer that is located_in the broad ligament.
has db xref: ICD10CM:C57.1
has db xref: ICD9CM:183.3
has db xref: NCI:C179934
has db xref: SNOMEDCT_US_2023_03_01:93728003
has db xref: UMLS_CUI:C0346866
has exact synonym: malignant neoplasm of broad ligament of uterus
has OBO namespace: disease_ontology
id: DOID:10744
in subset: NCIthesaurus

Axiom
annotated source: broad ligament malignant neoplasm
annotated property: IAO_0000115
annotated target: A uterine adnexa cancer that is located_in the broad ligament.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/26140828

otitis media
type: Class
subclass of: DOID 5100
IAO_0000115: A otitis which involves inflammation of the middle ear.
has db xref: ICD10CM:H66.9
has db xref: ICD9CM:382.9
has db xref: MESH:D010033
has db xref: NCI:C34885
has db xref: SNOMEDCT_US_2023_03_01:65363002
has db xref: UMLS_CUI:C0029882
has OBO namespace: disease_ontology
id: DOID:10754
in subset: NCIthesaurus

Axiom
annotated source: otitis media
annotated property: IAO_0000115
annotated target: A otitis which involves inflammation of the middle ear.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Otitis_media

chronic pyelonephritis
type: Class
subclass of: pyelonephritis
has db xref: ICD10CM:N11
has db xref: ICD9CM:590.0
has db xref: NCI:C123216
has db xref: SNOMEDCT_US_2023_03_01:123293005
has db xref: UMLS_CUI:C0085697
has OBO namespace: disease_ontology
id: DOID:1076
in subset: NCIthesaurus

portal hypertension
type: Class
subclass of: hepatic vascular disease
has db xref: GARD:8229
has db xref: ICD10CM:K76.6
has db xref: ICD9CM:572.3
has db xref: MESH:D006975
has db xref: NCI:C3119
has db xref: SNOMEDCT_US_2023_03_01:155821005
has db xref: UMLS_CUI:C0020541
has OBO namespace: disease_ontology
id: DOID:10762
in subset: DO rare slim
in subset: NCIthesaurus

hypertension
type: Class
subclass of: vascular disease
IAO_0000115: An artery disease characterized by chronic elevated blood pressure in the arteries.
has db xref: EFO:0000537
has db xref: ICD10CM:I10
has db xref: ICD9CM:401-405.99
has db xref: MESH:D006973
has db xref: NCI:C3117
has db xref: SNOMEDCT_US_2023_03_01:38341003
has db xref: UMLS_CUI:C0020538
has exact synonym: HTN
has exact synonym: hyperpiesia
has exact synonym: vascular hypertensive disorder
has OBO namespace: disease_ontology
has related synonym: hypertensive disease
id: DOID:10763
in subset: NCIthesaurus

Axiom
annotated source: hypertension
annotated property: IAO_0000115
annotated target: An artery disease characterized by chronic elevated blood pressure in the arteries.
type: ECO_0007638
type: ECO_0007645
has db xref: url:https://en.wikipedia.org/wiki/Hypertension
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/24352797

Axiom
annotated source: hypertension
annotated property: hasExactSynonym
annotated target: HTN
has synonym type: OMO_0003012

thrombotic thrombocytopenic purpura
type: Class
subclass of: thrombophilia
has db xref: GARD:9430
has db xref: ICD10CM:M31.19
has db xref: MESH:D011697
has db xref: MIM:274150
has db xref: NCI:C78797
has db xref: SNOMEDCT_US_2023_03_01:360402008
has db xref: UMLS_CUI:C0034155
has exact synonym: Moschcowitz's syndrome
has OBO namespace: disease_ontology
id: DOID:10772
in subset: DO rare slim
in subset: NCIthesaurus

primary polycythemia
type: Class
subclass of: DOID 8432
IAO_0000115: A polycythemia that has_material_basis_in factors intrinsic to red cell precursors.
has db xref: ICD10CM:D75.0
has db xref: ICD9CM:289.6
has db xref: MIM:PS133100
has db xref: NCI:C26955
has db xref: SNOMEDCT_US_2023_03_01:267571003
has db xref: UMLS_CUI:C0152264
has exact synonym: Familiar Polycythemia
has exact synonym: familial erythrocytosis
has OBO namespace: disease_ontology
id: DOID:10780
in subset: NCIthesaurus

Axiom
annotated source: primary polycythemia
annotated property: IAO_0000115
annotated target: A polycythemia that has_material_basis_in factors intrinsic to red cell precursors.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Polycythemia#Primary_polycythemia

mesenteric lymphadenitis
type: Class
subclass of: lymphadenitis
has db xref: ICD10CM:I88.0
has db xref: ICD9CM:289.2
has db xref: MESH:D008640
has db xref: NCI:C26830
has db xref: SNOMEDCT_US_2023_03_01:191376006
has db xref: UMLS_CUI:C0025469
has exact synonym: Mesenteric adenitis
has OBO namespace: disease_ontology
id: DOID:10782
in subset: NCIthesaurus

methemoglobinemia
type: Class
subclass of: hemoglobinopathy
has db xref: ICD10CM:D74
has db xref: ICD9CM:289.7
has db xref: MESH:D008708
has db xref: NCI:C34817
has db xref: SNOMEDCT_US_2023_03_01:191386007
has db xref: UMLS_CUI:C0025637
has OBO namespace: disease_ontology
id: DOID:10783
in subset: NCIthesaurus

premature menopause
type: Class
subclass of: ovarian disease
IAO_0000115: An ovarian dysfunction that is the loss of normal ovarian function before age 40.
has db xref: ICD10CM:E28.31
has db xref: ICD9CM:256.31
has db xref: MESH:D008594
has db xref: NCI:C80099
has db xref: SNOMEDCT_US_2023_03_01:154713003
has db xref: UMLS_CUI:C0025322
has exact synonym: Menopause - premature
has exact synonym: Menopause praecox
has OBO namespace: disease_ontology
id: DOID:10787
in subset: NCIthesaurus

Axiom
annotated source: premature menopause
annotated property: IAO_0000115
annotated target: An ovarian dysfunction that is the loss of normal ovarian function before age 40.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/26316242

chronic frontal sinusitis
type: Class
subclass of: frontal sinusitis
IAO_0000115: A frontal sinusitis which lasts for 12 weeks or more. This causes steady headache, localized tenderness and intermittent, purulent nasal and postnasal drainage.
has db xref: ICD10CM:J32.1
has db xref: ICD9CM:473.1
has db xref: NCI:C34473
has db xref: SNOMEDCT_US_2023_03_01:155527004
has db xref: UMLS_CUI:C0008683
has OBO namespace: disease_ontology
id: DOID:10790
in subset: NCIthesaurus

Axiom
annotated source: chronic frontal sinusitis
annotated property: IAO_0000115
annotated target: A frontal sinusitis which lasts for 12 weeks or more. This causes steady headache, localized tenderness and intermittent, purulent nasal and postnasal drainage.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/sinusitis
has db xref: url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html

frontal sinusitis
type: Class
subclass of: sinusitis
IAO_0000115: A sinusitis which involves infection of the frontal sinuses over the eyes in the brow area. This causes pain or pressure in the frontal sinus cavity and headache over the forehead.
has db xref: ICD10CM:J32.1
has db xref: MESH:D015522
has db xref: NCI:C34626
has db xref: SNOMEDCT_US_2023_03_01:275485006
has db xref: UMLS_CUI:C0016735
has OBO namespace: disease_ontology
id: DOID:10791
in subset: NCIthesaurus

Axiom
annotated source: frontal sinusitis
annotated property: IAO_0000115
annotated target: A sinusitis which involves infection of the frontal sinuses over the eyes in the brow area. This causes pain or pressure in the frontal sinus cavity and headache over the forehead.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/sinusitis
has db xref: url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html
has db xref: url:http://www3.niaid.nih.gov/topics/sinusitis/overview.htm

chronic maxillary sinusitis
type: Class
subclass of: maxillary sinusitis
IAO_0000115: A maxillary sinusitis which lasts for 12 weeks or more.
has db xref: ICD10CM:J32.0
has db xref: ICD9CM:473.0
has db xref: NCI:C34477
has db xref: SNOMEDCT_US_2023_03_01:195785003
has db xref: UMLS_CUI:C0008698
has exact synonym: chronic antritis
has OBO namespace: disease_ontology
id: DOID:10792
in subset: NCIthesaurus

Axiom
annotated source: chronic maxillary sinusitis
annotated property: IAO_0000115
annotated target: A maxillary sinusitis which lasts for 12 weeks or more.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/sinusitis
has db xref: url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html

chronic sphenoidal sinusitis
type: Class
subclass of: sphenoid sinusitis
IAO_0000115: A sphenoid sinusitis which lasts for 12 weeks or more.
has db xref: ICD10CM:J32.3
has db xref: ICD9CM:473.3
has db xref: NCI:C34480
has db xref: SNOMEDCT_US_2023_03_01:155528009
has db xref: UMLS_CUI:C0008712
has exact synonym: Sphenoidal sinus-chr.
has OBO namespace: disease_ontology
id: DOID:10793
in subset: NCIthesaurus

Axiom
annotated source: chronic sphenoidal sinusitis
annotated property: IAO_0000115
annotated target: A sphenoid sinusitis which lasts for 12 weeks or more.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/sinusitis

sphenoid sinusitis
type: Class
subclass of: sinusitis
IAO_0000115: A sinusitis which involves infection of sphenoid sinuses that causes pain or pressure behind the eyes, but often refers to the vertex of the head.
has db xref: ICD10CM:J32.3
has db xref: MESH:D015524
has db xref: NCI:C35031
has db xref: SNOMEDCT_US_2023_03_01:13266007
has db xref: UMLS_CUI:C0037886
has exact synonym: Sphenoidal sinusitis
has OBO namespace: disease_ontology
id: DOID:10794
in subset: NCIthesaurus

Axiom
annotated source: sphenoid sinusitis
annotated property: IAO_0000115
annotated target: A sinusitis which involves infection of sphenoid sinuses that causes pain or pressure behind the eyes, but often refers to the vertex of the head.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/sinusitis

filariasis
type: Class
subclass of: DOID 883
IAO_0000115: A parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily Filarioidea.
has db xref: ICD10CM:B74
has db xref: ICD9CM:125.9
has db xref: MESH:D005368
has db xref: NCI:C34611
has db xref: SNOMEDCT_US_2023_03_01:50342004
has db xref: UMLS_CUI:C0016085
has exact synonym: disease due to superfamily Filarioidea
has OBO namespace: disease_ontology
id: DOID:1080
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: filariasis
annotated property: IAO_0000115
annotated target: A parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily Filarioidea.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Filariasis

gastric ulcer
type: Class
subclass of: DOID 750
has alternative id: DOID:10807
has alternative id: DOID:10809
has alternative id: DOID:12047
has alternative id: DOID:12057
has alternative id: DOID:12068
has alternative id: DOID:12069
has alternative id: DOID:12806
has alternative id: DOID:13124
has alternative id: DOID:13125
has alternative id: DOID:241
has alternative id: DOID:242
has db xref: ICD10CM:K25
has db xref: ICD9CM:531
has db xref: MESH:D013276
has db xref: NCI:C3388
has db xref: SNOMEDCT_US_2023_03_01:155681009
has db xref: UMLS_CUI:C0038358
has exact synonym: acute gastric ulcer with haemorrhage and perforation
has exact synonym: acute gastric ulcer with hemorrhage AND with perforation but without obstruction
has exact synonym: acute gastric ulcer with hemorrhage and obstruction
has exact synonym: acute gastric ulcer with hemorrhage and perforation
has exact synonym: acute gastric ulcer with hemorrhage and perforation, with obstruction
has exact synonym: acute gastric ulcer with hemorrhage and perforation, without mention of obstruction
has exact synonym: acute gastric ulcer with hemorrhage, with obstruction
has exact synonym: acute gastric ulcer with hemorrhage, with perforation AND with obstruction
has exact synonym: acute gastric ulcer with perforation
has exact synonym: acute gastric ulcer with perforation AND obstruction
has exact synonym: acute gastric ulcer with perforation, with obstruction
has exact synonym: acute gastric ulcer without hemorrhage and without perforation
has exact synonym: acute gastric ulcer without hemorrhage, without perforation AND without obstruction
has exact synonym: acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction
has exact synonym: bleeding acute gastric ulcer
has exact synonym: chronic gastric ulcer without hemorrhage AND without perforation
has exact synonym: chronic gastric ulcer without hemorrhage AND without perforation but with obstruction
has exact synonym: chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction
has OBO namespace: disease_ontology
id: DOID:10808
in subset: NCIthesaurus

mansonelliasis
type: Class
subclass of: filariasis
IAO_0000115: A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies.
has db xref: GARD:8216
has db xref: ICD10CM:B74.4
has db xref: MESH:D008368
has db xref: NCI:C84882
has db xref: SNOMEDCT_US_2023_03_01:240849009
has db xref: UMLS_CUI:C0024759
has OBO namespace: disease_ontology
id: DOID:1081
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: mansonelliasis
annotated property: IAO_0000115
annotated target: A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Mansonelliasis

nasal cavity cancer
type: Class
subclass of: cancer
IAO_0000115: A respiratory system cancer that is located_in the nasal cavity.
has db xref: ICD10CM:C30.0
has db xref: ICD9CM:160.0
has db xref: NCI:C4918
has db xref: SNOMEDCT_US_2023_03_01:93917007
has db xref: UMLS_CUI:C0728864
has exact synonym: malignant neoplasm of nasal cavities
has exact synonym: malignant tumor of the nasal cavity
has OBO namespace: disease_ontology
id: DOID:10811
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim

Axiom
annotated source: nasal cavity cancer
annotated property: IAO_0000115
annotated target: A respiratory system cancer that is located_in the nasal cavity.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Nasal_cavity

nasal cavity olfactory neuroblastoma
type: Class
subclass of: nasal cavity cancer
has db xref: NCI:C7604
has db xref: UMLS_CUI:C1334923
has exact synonym: Olfactory neuroblastoma of the nasal cavity
has OBO namespace: disease_ontology
id: DOID:10812
in subset: NCIthesaurus

nasal cavity lymphoma
type: Class
subclass of: nasal cavity cancer
has db xref: NCI:C6074
has db xref: UMLS_CUI:C1334921
has exact synonym: Lymphoma of the nasal cavity
has exact synonym: lymphoma of nasal cavity
has OBO namespace: disease_ontology
id: DOID:10813
in subset: NCIthesaurus

duodenum adenocarcinoma
type: Class
subclass of: duodenum cancer
IAO_0000115: A duodenum cancer that derives_from epithelial cells of glandular origin.
has db xref: NCI:C7889
has db xref: SNOMEDCT_US_2023_03_01:408644002
has db xref: UMLS_CUI:C0278804
has exact synonym: Duodenal adenocarcinoma
has OBO namespace: disease_ontology
id: DOID:10816
in subset: NCIthesaurus

Axiom
annotated source: duodenum adenocarcinoma
annotated property: IAO_0000115
annotated target: A duodenum cancer that derives_from epithelial cells of glandular origin.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Adenocarcinoma

sexual sadism
type: Class
subclass of: disease of mental health
has db xref: ICD10CM:F65.52
has db xref: ICD9CM:302.84
has db xref: MESH:D012448
has db xref: NCI:C94358
has db xref: SNOMEDCT_US_2023_03_01:59394009
has db xref: UMLS_CUI:C0036913
has OBO namespace: disease_ontology
id: DOID:10817
in subset: NCIthesaurus

malignant essential hypertension
type: Class
subclass of: essential hypertension
has db xref: ICD9CM:401.0
has db xref: NCI:C34802
has db xref: SNOMEDCT_US_2023_03_01:78975002
has db xref: UMLS_CUI:C0024588
has exact synonym: Accelerated essential hypertension
has OBO namespace: disease_ontology
id: DOID:10823
in subset: NCIthesaurus

malignant hypertension
type: Class
subclass of: hypertension
IAO_0000115: A hypertension that is characterized by rapid onset of extremely high blood pressure.
has db xref: MESH:D006974
has db xref: NCI:C3118
has db xref: SNOMEDCT_US_2023_03_01:155301003
has db xref: UMLS_CUI:C0020540
has OBO namespace: disease_ontology
id: DOID:10824
in subset: NCIthesaurus

Axiom
annotated source: malignant hypertension
annotated property: IAO_0000115
annotated target: A hypertension that is characterized by rapid onset of extremely high blood pressure.
type: ECO_0007636
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3118

essential hypertension
type: Class
subclass of: hypertension
IAO_0000115: A hypertension with no known cause. It is the most common type of hypertension.
has db xref: ICD10CM:I10
has db xref: ICD9CM:401
has db xref: MESH:D000075222
has db xref: MIM:145500
has db xref: MIM:603918
has db xref: MIM:604329
has db xref: MIM:607329
has db xref: MIM:608742
has db xref: MIM:610261
has db xref: MIM:610262
has db xref: MIM:610948
has db xref: MIM:611014
has db xref: NCI:C3478
has db xref: ORDO:243761
has db xref: SNOMEDCT_US_2023_03_01:194757006
has db xref: UMLS_CUI:C0085580
has exact synonym: idiopathic hypertension
has exact synonym: primary hypertension
has OBO namespace: disease_ontology
id: DOID:10825
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: essential hypertension
annotated property: IAO_0000115
annotated target: A hypertension with no known cause. It is the most common type of hypertension.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Essential_hypertension
has db xref: url:http://www.merckmanuals.com/professional/cardiovascular_disorders/hypertension/overview_of_hypertension.html

voyeurism
type: Class
subclass of: disease of mental health
has db xref: ICD10CM:F65.3
has db xref: ICD9CM:302.82
has db xref: MESH:D014843
has db xref: NCI:C94360
has db xref: SNOMEDCT_US_2023_03_01:192515002
has db xref: UMLS_CUI:C0042979
has OBO namespace: disease_ontology
id: DOID:10834
in subset: NCIthesaurus

Western equine encephalitis
type: Class
subclass of: DOID 934
IAO_0000115: A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Western equine encephalomyelitis virus (Alphavirus western), which is transmitted_by Culex and transmitted_by Aedes species of mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom anorexia, has_symptom malaise, has_symptom altered mental status, and has_symptom weakness.
has db xref: GARD:7888
has db xref: ICD10CM:A83.1
has db xref: ICD9CM:062.1
has db xref: MESH:D020241
has db xref: NCI:C85227
has db xref: SNOMEDCT_US_2023_03_01:47523006
has db xref: UMLS_CUI:C0153064
has OBO namespace: disease_ontology
has related synonym: WEE
id: DOID:10843
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus
in subset: zoonotic infectious disease

Axiom
annotated source: Western equine encephalitis
annotated property: IAO_0000115
annotated target: A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Western equine encephalomyelitis virus (Alphavirus western), which is transmitted_by Culex and transmitted_by Aedes species of mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom anorexia, has_symptom malaise, has_symptom altered mental status, and has_symptom weakness.
type: ECO_0007637
has db xref: url:https://www.cdc.gov/wee/about/
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK470228/

Axiom
annotated source: Western equine encephalitis
annotated property: hasRelatedSynonym
annotated target: WEE
has synonym type: OMO_0003012

Japanese encephalitis
type: Class
subclass of: DOID 934
IAO_0000115: A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus (Orthoflavivirus japonicum), which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis.
has db xref: GARD:6797
has db xref: ICD10CM:A83.0
has db xref: ICD9CM:062.0
has db xref: MESH:D004672
has db xref: NCI:C34577
has db xref: SNOMEDCT_US_2023_03_01:266194002
has db xref: UMLS_CUI:C0014057
has exact synonym: Japanese B encephalitis
has OBO namespace: disease_ontology
id: DOID:10844
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Japanese encephalitis
annotated property: IAO_0000115
annotated target: A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus (Orthoflavivirus japonicum), which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis.
type: ECO_0007637
has db xref: url:https://www.cdc.gov/japanese-encephalitis/about/
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK470423/
has db xref: url:https://www.who.int/news-room/fact-sheets/detail/japanese-encephalitis

sexual masochism
type: Class
subclass of: disease of mental health
has db xref: ICD10CM:F65.51
has db xref: ICD9CM:302.83
has db xref: MESH:D008398
has db xref: NCI:C94356
has db xref: SNOMEDCT_US_2023_03_01:248104007
has db xref: UMLS_CUI:C0036908
has OBO namespace: disease_ontology
id: DOID:10849
in subset: NCIthesaurus

Edwards syndrome
type: Class
subclass of: DOID 630
IAO_0000115: A chromosomal duplciation syndrome that is characterized by slow growth before birth and a low birth weight and that has_material_basis_in three copies of chromosome 18.
has db xref: ICD9CM:758.2
has db xref: MESH:D000073842
has db xref: NCI:C101362
has db xref: SNOMEDCT_US_2023_03_01:51500006
has db xref: UMLS_CUI:C0152096
has exact synonym: Complete trisomy 18 syndrome
has exact synonym: E3 Trisomy
has exact synonym: trisomy 18
has OBO namespace: disease_ontology
id: DOID:1085
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: Edwards syndrome
annotated property: IAO_0000115
annotated target: A chromosomal duplciation syndrome that is characterized by slow growth before birth and a low birth weight and that has_material_basis_in three copies of chromosome 18.
has db xref: url:https://ghr.nlm.nih.gov/condition/trisomy-18

middle ear cholesterol granuloma
type: Class
subclass of: otitis media
IAO_0000115: A otitis media which is an expansile, inflammatory mass of granulation tissue in the middle ear. It is a foreign body reaction to cholesterol deposits that occur in obstructed fluid-filled air cells of the temporal bone. It is present with a conductive hearing loss and a blue eardrum.
has db xref: NCI:C3655
has db xref: SNOMEDCT_US_2023_03_01:28371001
has db xref: UMLS_CUI:C0155492
has exact synonym: Cholesterin granuloma
has exact synonym: Cholesterin granuloma of middle ear
has OBO namespace: disease_ontology
id: DOID:10852
in subset: NCIthesaurus

Axiom
annotated source: middle ear cholesterol granuloma
annotated property: IAO_0000115
annotated target: A otitis media which is an expansile, inflammatory mass of granulation tissue in the middle ear. It is a foreign body reaction to cholesterol deposits that occur in obstructed fluid-filled air cells of the temporal bone. It is present with a conductive hearing loss and a blue eardrum.
type: ECO_0007645
type: ECO_0007646
has db xref: url:http://books.google.com/books?id=ZjbGu_NasbcC&pg=RA1-PA75&lpg#v=onepage&q=&f=false
has db xref: url:http://www.ncbi.nlm.nih.gov/sites/entrez/16354369

abducens nerve palsy
type: Class
subclass of: cranial nerve palsy
IAO_0000115: A cranial nerve palsy characterized by lateral rectus muscle weakness resulting from damage to the abducens (sixth cranial) nerve.
has db xref: GARD:9482
has db xref: MESH:D020434
has db xref: MIM:100200
has db xref: NCI:C27593
has db xref: SNOMEDCT_US_2023_03_01:82373004
has db xref: UMLS_CUI:C0271355
has exact synonym: Abducens nerve weakness
has exact synonym: Lateral rectus muscle denervation paresis
has exact synonym: Lateral rectus muscle innervation disorder
has exact synonym: Sixth cranial nerve disorder
has exact synonym: Sixth nerve palsy
has exact synonym: VIth nerve Paralysis
has exact synonym: VIth nerve disorder
has exact synonym: abducens nerve disease
has exact synonym: abducens palsy
has OBO namespace: disease_ontology
id: DOID:10865
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: abducens nerve palsy
annotated property: IAO_0000115
annotated target: A cranial nerve palsy characterized by lateral rectus muscle weakness resulting from damage to the abducens (sixth cranial) nerve.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/35356946/
has db xref: url:https://www.aapos.org/glossary/sixth-nerve-palsy
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK482177/

age related macular degeneration
type: Class
subclass of: DOID 4448
IAO_0000115: A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision.
has db xref: EFO:0001365
has db xref: ICD10CM:H35.30
has db xref: ICD9CM:362.50
has db xref: MESH:D008268
has db xref: MIM:PS603075
has db xref: NCI:C84391
has db xref: SNOMEDCT_US_2023_03_01:18222007
has db xref: UMLS_CUI:C0242383
has exact synonym: Age Related Maculopathies
has exact synonym: Age Related Maculopathy
has exact synonym: Senile macular degeneration
has exact synonym: Senile macular retinal degeneration
has exact synonym: age-related macular degeneration
has OBO namespace: disease_ontology
id: DOID:10871
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: age related macular degeneration
annotated property: IAO_0000115
annotated target: A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Macular_degeneration

hand, foot and mouth disease
type: Class
subclass of: DOID 934
IAO_0000115: A viral infectious disease that results_in infection located_in skin, has_material_basis_in Enterovirus A (Enterovirus alphacoxsackie), which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet.
has db xref: ICD10CM:B08.4
has db xref: ICD9CM:074.3
has db xref: MESH:D006232
has db xref: NCI:C128439
has db xref: SNOMEDCT_US_2023_03_01:175497008
has db xref: UMLS_CUI:C0018572
has exact synonym: HFMD
has exact synonym: Vesicular stomatitis and exanthem
has OBO namespace: disease_ontology
id: DOID:10881
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: hand, foot and mouth disease
annotated property: IAO_0000115
annotated target: A viral infectious disease that results_in infection located_in skin, has_material_basis_in Enterovirus A (Enterovirus alphacoxsackie), which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet.
type: ECO_0007637
has db xref: url:https://www.cdc.gov/hand-foot-mouth/about/
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK431082/

Axiom
annotated source: hand, foot and mouth disease
annotated property: hasExactSynonym
annotated target: HFMD
has synonym type: OMO_0003012

tethered spinal cord syndrome
type: Class
subclass of: spinal cord disease
has db xref: GARD:4018
has db xref: SNOMEDCT_US_2023_03_01:282784007
has db xref: UMLS_CUI:C0560648
has exact synonym: spinal dysraphism
has OBO namespace: disease_ontology
id: DOID:1089
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

hypospadias
type: Class
subclass of: disease
IAO_0000115: A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.
has db xref: ICD10CM:Q54
has db xref: MESH:D007021
has db xref: MIM:146450
has db xref: MIM:300633
has db xref: MIM:300758
has db xref: MIM:300856
has db xref: NCI:C40341
has db xref: ORDO:440
has db xref: SNOMEDCT_US_2023_03_01:156968008
has db xref: UMLS_CUI:C0848558
has exact synonym: familial hypospadias
has OBO namespace: disease_ontology
id: DOID:10892
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: hypospadias
annotated property: IAO_0000115
annotated target: A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Hypospadias
has db xref: url:http://ghr.nlm.nih.gov/glossary=hypospadias

microcephaly
type: Class
subclass of: disease
IAO_0000115: A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants.
has db xref: GARD:3603
has db xref: GARD:7038
has db xref: ICD10CM:Q02
has db xref: ICD9CM:742.1
has db xref: MESH:D008831
has db xref: NCI:C85874
has db xref: SNOMEDCT_US_2023_03_01:156893009
has db xref: UMLS_CUI:C0025958
has exact synonym: Microcephalus
has exact synonym: microencephaly
has OBO namespace: disease_ontology
id: DOID:10907
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: microcephaly
annotated property: IAO_0000115
annotated target: A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants.
has db xref: url:https://en.wikipedia.org/wiki/Microcephaly

hydrocephalus
type: Class
subclass of: DOID 936
IAO_0000115: A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head.
has db xref: GARD:6682
has db xref: ICD10CM:G91
has db xref: MESH:D006849
has db xref: MIM:123155
has db xref: MIM:236600
has db xref: MIM:236635
has db xref: MIM:307000
has db xref: MIM:615219
has db xref: NCI:C3111
has db xref: ORDO:2182
has db xref: ORDO:2185
has db xref: SNOMEDCT_US_2023_03_01:267687006
has db xref: UMLS_CUI:C0020255
has exact synonym: hydrocephalus, X-linked
has exact synonym: hydrocephalus, nonsyndromic, autosomal recessive
has OBO namespace: disease_ontology
id: DOID:10908
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: hydrocephalus
annotated property: IAO_0000115
annotated target: A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Hydrocephalus
has db xref: url:http://ghr.nlm.nih.gov/glossary=hydrocephalus
has db xref: url:http://www.mayoclinic.org/diseases-conditions/hydrocephalus/basics/definition/con-20030706?_ga=1.124310025.2017809229.1415219956

benign essential hypertension
type: Class
subclass of: essential hypertension
has db xref: ICD9CM:401.1
has db xref: NCI:C3656
has db xref: SNOMEDCT_US_2023_03_01:194758001
has db xref: UMLS_CUI:C0155583
has OBO namespace: disease_ontology
id: DOID:10913
in subset: NCIthesaurus

amnestic disorder
type: Class
subclass of: cognitive disorder
IAO_0000115: A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information.
has alternative id: DOID:4544
has db xref: ICD10CM:R41.3
has db xref: ICD9CM:294.0
has db xref: MESH:D000647
has db xref: NCI:C2867
has db xref: SNOMEDCT_US_2023_03_01:247606008
has db xref: SNOMEDCT_US_2023_03_01:3298001
has db xref: UMLS_CUI:C0002622
has db xref: UMLS_CUI:C0002625
has exact synonym: Amnestic syndrome
has exact synonym: Korsakoff's psychosis or syndrome
has exact synonym: amnesia
has OBO namespace: disease_ontology
id: DOID:10914
in subset: DO FlyBase slim
in subset: NCIthesaurus

Axiom
annotated source: amnestic disorder
annotated property: IAO_0000115
annotated target: A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Amnesia
has db xref: url:http://www.minddisorders.com/A-Br/Amnestic-disorders.html

Wernicke-Korsakoff syndrome
type: Class
subclass of: thiamine deficiency disease
IAO_0000115: A nutritional deficiency disease that is characterized by ophthalmoplegia, ataxia, change in mental status and acute onset of severe memory impairment without any dysfunction in intellectual abilities, and has_material_basis_in thiamine deficiency.
has db xref: MESH:D020915
has db xref: MIM:277730
has db xref: NCI:C35764
has db xref: SNOMEDCT_US_2023_03_01:69482004
has db xref: UMLS_CUI:C0349464
has exact synonym: Korsakoff Syndrome
has exact synonym: Korsakoff's psychosis
has exact synonym: Korsakoff's syndrome
has exact synonym: Korsakov psychosis
has exact synonym: Korsakov's psychosis
has OBO namespace: disease_ontology
id: DOID:10915
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: Wernicke-Korsakoff syndrome
annotated property: IAO_0000115
annotated target: A nutritional deficiency disease that is characterized by ophthalmoplegia, ataxia, change in mental status and acute onset of severe memory impairment without any dysfunction in intellectual abilities, and has_material_basis_in thiamine deficiency.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Wernicke%E2%80%93Korsakoff_syndrome

sickle cell anemia
type: Class
subclass of: sickle cell disease
IAO_0000115: A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain.
has alternative id: DOID:12924
has alternative id: DOID:13024
has db xref: MESH:D000755
has db xref: ORDO:232
has db xref: SNOMEDCT_US_2025_04_25:127040003
has db xref: UMLS_CUI:C0002895
has exact synonym: Hb SC disease
has exact synonym: Hb-S/Hb-C disease
has exact synonym: Hb-SS disease without crisis
has exact synonym: HbSS disease
has exact synonym: Hemoglobin S disease without crisis
has exact synonym: Sickle-cell/Hb-C disease without crisis
has exact synonym: drepanocytosis
has exact synonym: haemoglobin SC disease
has exact synonym: hemoglobin SC disease
has exact synonym: homozygous sickle cell disease
has exact synonym: sickle cell anaemia
has OBO namespace: disease_ontology
id: DOID:10923
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: sickle cell anemia
annotated property: IAO_0000115
annotated target: A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain.
type: ECO_0007637
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Sickle_cell_disease
has db xref: url:https://ghr.nlm.nih.gov/condition/sickle-cell-disease
has db xref: url:https://www.nhlbi.nih.gov/health-topics/sickle-cell-disease

borderline personality disorder
type: Class
subclass of: disease of mental health
IAO_0000115: A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods.
has db xref: ICD10CM:F60.3
has db xref: ICD9CM:301.83
has db xref: MESH:D001883
has db xref: NCI:C92633
has db xref: SNOMEDCT_US_2023_03_01:20010003
has db xref: UMLS_CUI:C0006012
has OBO namespace: disease_ontology
id: DOID:10930
in subset: NCIthesaurus

Axiom
annotated source: borderline personality disorder
annotated property: IAO_0000115
annotated target: A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Borderline_personality_disorder

dependent personality disorder
type: Class
subclass of: disease of mental health
IAO_0000115: A personality disorder that is characterized by a pervasive psychological dependence on other people.
has db xref: ICD10CM:F60.7
has db xref: ICD9CM:301.6
has db xref: MESH:D003859
has db xref: NCI:C92637
has db xref: SNOMEDCT_US_2023_03_01:192492003
has db xref: UMLS_CUI:C0011548
has OBO namespace: disease_ontology
id: DOID:10931
in subset: NCIthesaurus

Axiom
annotated source: dependent personality disorder
annotated property: IAO_0000115
annotated target: A personality disorder that is characterized by a pervasive psychological dependence on other people.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Dependent_personality_disorder

obsessive-compulsive personality disorder
type: Class
subclass of: disease of mental health
IAO_0000115: A personality disorder that is characterized by a pervasive pattern of preoccupation with orderliness, perfectionism, and mental and interpersonal control at the expense of flexibility, openness, and efficiency.
has db xref: ICD10CM:F60.5
has db xref: ICD9CM:301.4
has db xref: MESH:D003193
has db xref: NCI:C92638
has db xref: SNOMEDCT_US_2023_03_01:191761001
has db xref: UMLS_CUI:C0009595
has exact synonym: OCPD
has OBO namespace: disease_ontology
has related synonym: Anankastic personality disorder
id: DOID:10932
in subset: NCIthesaurus

Axiom
annotated source: obsessive-compulsive personality disorder
annotated property: IAO_0000115
annotated target: A personality disorder that is characterized by a pervasive pattern of preoccupation with orderliness, perfectionism, and mental and interpersonal control at the expense of flexibility, openness, and efficiency.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Obsessive%E2%80%93compulsive_personality_disorder

Axiom
annotated source: obsessive-compulsive personality disorder
annotated property: hasExactSynonym
annotated target: OCPD
has synonym type: OMO_0003012

obsessive-compulsive disorder
type: Class
subclass of: anxiety disorder
IAO_0000115: An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions).
has db xref: ICD10CM:F42
has db xref: ICD9CM:300.3
has db xref: MESH:D009771
has db xref: NCI:C88411
has db xref: SNOMEDCT_US_2023_03_01:71478004
has db xref: UMLS_CUI:C0028768
has exact synonym: Anancastic neurosis
has exact synonym: obsessive compulsive disorder
has OBO namespace: disease_ontology
id: DOID:10933
in subset: NCIthesaurus

Axiom
annotated source: obsessive-compulsive disorder
annotated property: IAO_0000115
annotated target: An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions).
has db xref: url:https://www.nimh.nih.gov/health/topics/obsessive-compulsive-disorder-ocd/index.shtml

multiple personality disorder
type: Class
subclass of: dissociative disorder
IAO_0000115: A dissociative disorder that involves the simultaneous display of multiple distinct identities or personalities.
has db xref: ICD10CM:F44.81
has db xref: ICD9CM:300.14
has db xref: MESH:D009105
has db xref: NCI:C94330
has db xref: SNOMEDCT_US_2023_03_01:31611000
has db xref: UMLS_CUI:C0026773
has exact synonym: Dissociative identity disorder
has OBO namespace: disease_ontology
id: DOID:10934
in subset: NCIthesaurus

Axiom
annotated source: multiple personality disorder
annotated property: IAO_0000115
annotated target: A dissociative disorder that involves the simultaneous display of multiple distinct identities or personalities.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Dissociative_identity_disorder

dissociative disorder
type: Class
subclass of: disease of mental health
IAO_0000115: A disease of mental health in which the normally well-integrated functions of memory, identity, perception, or consciousness are separated (dissociated).
has alternative id: DOID:4963
has db xref: ICD10CM:F44.9
has db xref: ICD10CM:F48.9
has db xref: ICD9CM:300.15
has db xref: ICD9CM:300.9
has db xref: MESH:D004213
has db xref: NCI:C92197
has db xref: SNOMEDCT_US_2023_03_01:154883004
has db xref: UMLS_CUI:C0012746
has db xref: UMLS_CUI:C0041857
has exact synonym: dissociative disease
has exact synonym: dissociative reaction
has OBO namespace: disease_ontology
id: DOID:10935
in subset: NCIthesaurus

Axiom
annotated source: dissociative disorder
annotated property: IAO_0000115
annotated target: A disease of mental health in which the normally well-integrated functions of memory, identity, perception, or consciousness are separated (dissociated).
has db xref: url:https://www.mayoclinic.org/diseases-conditions/dissociative-disorders/symptoms-causes/syc-20355215

schizoid personality disorder
type: Class
subclass of: disease of mental health
IAO_0000115: A personality disorder that is characterized by a lack of interest in social relationships, a tendency towards a solitary lifestyle, secretiveness, emotional coldness and sometimes sexual apathy, with a simultaneous rich, elaborate and exclusively internal fantasy world.
has db xref: ICD10CM:F60.1
has db xref: ICD9CM:301.2
has db xref: MESH:D012557
has db xref: NCI:C92631
has db xref: SNOMEDCT_US_2023_03_01:192486009
has db xref: UMLS_CUI:C0036339
has OBO namespace: disease_ontology
id: DOID:10936
in subset: NCIthesaurus

Axiom
annotated source: schizoid personality disorder
annotated property: IAO_0000115
annotated target: A personality disorder that is characterized by a lack of interest in social relationships, a tendency towards a solitary lifestyle, secretiveness, emotional coldness and sometimes sexual apathy, with a simultaneous rich, elaborate and exclusively internal fantasy world.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Schizoid_personality_disorder

impulse control disorder
type: Class
subclass of: disease of mental health
IAO_0000115: A disease of mental health that involves a failure to resist an impulsive act or behaviour that may be harmful to self or others.
has db xref: ICD10CM:F63.9
has db xref: ICD9CM:312.30
has db xref: MESH:D007174
has db xref: NCI:C34723
has db xref: SNOMEDCT_US_2023_03_01:192098008
has db xref: UMLS_CUI:C0021122
has OBO namespace: disease_ontology
id: DOID:10937
in subset: NCIthesaurus

Axiom
annotated source: impulse control disorder
annotated property: IAO_0000115
annotated target: A disease of mental health that involves a failure to resist an impulsive act or behaviour that may be harmful to self or others.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Impulse_control_disorder

paranoid personality disorder
type: Class
subclass of: disease of mental health
IAO_0000115: A personality disorder that is characterized by paranoia and a pervasive, long-standing suspiciousness and generalized mistrust of others.
has db xref: ICD10CM:F60.0
has db xref: ICD9CM:301.0
has db xref: MESH:D010260
has db xref: NCI:C92630
has db xref: SNOMEDCT_US_2023_03_01:270529002
has db xref: UMLS_CUI:C0030477
has OBO namespace: disease_ontology
id: DOID:10938
in subset: NCIthesaurus

Axiom
annotated source: paranoid personality disorder
annotated property: IAO_0000115
annotated target: A personality disorder that is characterized by paranoia and a pervasive, long-standing suspiciousness and generalized mistrust of others.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Paranoid_personality_disorder

antisocial personality disorder
type: Class
subclass of: disease of mental health
IAO_0000115: A personality disorder that involves a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood.
has db xref: ICD10CM:F60.2
has db xref: ICD9CM:301.7
has db xref: MESH:D000987
has db xref: NCI:C88413
has db xref: SNOMEDCT_US_2023_03_01:191769004
has db xref: UMLS_CUI:C0003431
has exact synonym: Asocial personality
has exact synonym: Dissocial personality disorder
has exact synonym: Psychopath.personality
has exact synonym: Psychopathic personality
has exact synonym: Psychopathic personality disorder
has exact synonym: sociopathic personality
has OBO namespace: disease_ontology
id: DOID:10939
in subset: NCIthesaurus

Axiom
annotated source: antisocial personality disorder
annotated property: IAO_0000115
annotated target: A personality disorder that involves a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Antisocial_personality_disorder

intracranial aneurysm
type: Class
subclass of: DOID 6713
has db xref: EFO:0003870
has db xref: MESH:D002532
has db xref: NCI:C34458
has db xref: SNOMEDCT_US_2023_03_01:128609009
has db xref: UMLS_CUI:C0007766
has exact synonym: brain aneurysm
has OBO namespace: disease_ontology
id: DOID:10941
in subset: NCIthesaurus

tongue disease
type: Class
subclass of: mouth disease
IAO_0000115: A mouth disease located_in the tongue.
has db xref: ICD10CM:K14
has db xref: ICD9CM:529.9
has db xref: MESH:D014060
has db xref: NCI:C173793
has db xref: SNOMEDCT_US_2023_03_01:69244009
has db xref: UMLS_CUI:C0040409
has OBO namespace: disease_ontology
id: DOID:10944
in subset: NCIthesaurus

Axiom
annotated source: tongue disease
annotated property: IAO_0000115
annotated target: A mouth disease located_in the tongue.
has db xref: url:https://medlineplus.gov/tonguedisorders.html

nephritis
type: Class
subclass of: DOID 557
IAO_0000115: A kidney disease that is characterized by an inflammation of the kidneys.
has db xref: ICD10CM:N08
has db xref: MESH:D009393
has db xref: NCI:C26833
has db xref: SNOMEDCT_US_2023_03_01:52845002
has db xref: UMLS_CUI:C0027697
has OBO namespace: disease_ontology
id: DOID:10952
in subset: NCIthesaurus

Axiom
annotated source: nephritis
annotated property: IAO_0000115
annotated target: A kidney disease that is characterized by an inflammation of the kidneys.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Nephritis

strongyloidiasis
type: Class
subclass of: DOID 883
IAO_0000115: A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis.
has alternative id: DOID:0050008
has db xref: GARD:8195
has db xref: ICD10CM:B78
has db xref: ICD9CM:127.2
has db xref: MESH:D013322
has db xref: NCI:C128398
has db xref: SNOMEDCT_US_2023_03_01:1214006
has db xref: UMLS_CUI:C0038463
has exact synonym: Infection by Strongyloides
has exact synonym: disseminated strongyloidiasis
has OBO namespace: disease_ontology
id: DOID:10955
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: strongyloidiasis
annotated property: IAO_0000115
annotated target: A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Strongyloidiasis
has db xref: url:http://www.dpd.cdc.gov/dpdx/HTML/Strongyloidiasis.htm

cholesteatoma of middle ear
type: Class
subclass of: DOID 869
has alternative id: DOID:11433
has db xref: ICD10CM:H71
has db xref: ICD9CM:385.3
has db xref: ICD9CM:385.32
has db xref: MESH:D018424
has db xref: NCI:C3654
has db xref: SNOMEDCT_US_2023_03_01:39911004
has db xref: SNOMEDCT_US_2023_03_01:87688009
has db xref: UMLS_CUI:C0008374
has db xref: UMLS_CUI:C0155490
has exact synonym: Cholesteatoma of middle ear and mastoid
has exact synonym: Cholesteatoma of middle ear and/or mastoid
has exact synonym: Cholesteatoma of the middle ear
has exact synonym: Epidermosis of ear
has exact synonym: Epidermosis of middle ear
has exact synonym: middle ear cholesteatoma
has OBO namespace: disease_ontology
id: DOID:10964
in subset: NCIthesaurus

spastic diplegia
type: Class
subclass of: cerebral palsy
IAO_0000115: A spastic cerebral palsy that affects lower extremities resulting in tight leg and hip muscles. The legs cross at the knees, making it difficult to walk.
has alternative id: DOID:3778
has db xref: ICD10CM:G80.1
has db xref: ICD9CM:343.0
has db xref: MESH:D002547
has db xref: NCI:C34781
has db xref: SNOMEDCT_US_2023_03_01:1178005
has db xref: SNOMEDCT_US_2023_03_01:275469001
has db xref: UMLS_CUI:C0023882
has db xref: UMLS_CUI:C0154695
has exact synonym: Diplegic infantile cerebral palsy
has exact synonym: Infantile spastic cerebral palsy
has exact synonym: Little's disease
has exact synonym: Littles disease
has exact synonym: cerebral spastic infantile paralysis
has exact synonym: infantile diplegic cerebral palsy
has OBO namespace: disease_ontology
id: DOID:10965
in subset: NCIthesaurus

Axiom
annotated source: spastic diplegia
annotated property: IAO_0000115
annotated target: A spastic cerebral palsy that affects lower extremities resulting in tight leg and hip muscles. The legs cross at the knees, making it difficult to walk.
has db xref: url:https://rarediseases.info.nih.gov/diseases/9637/spastic-diplegia-cerebral-palsy

lipoid nephrosis
type: Class
subclass of: nephrotic syndrome
has db xref: ICD10CM:N04
has db xref: MESH:D009402
has db xref: NCI:C34844
has db xref: SNOMEDCT_US_2023_03_01:197592009
has db xref: UMLS_CUI:C0027721
has exact synonym: Minimal Change Glomerulonephritis
has exact synonym: Minimal change disease
has exact synonym: Nephrotic syndrome with lesion of minimal change glomerulonephritis
has exact synonym: Nephrotic syndrome with lesion of minimal change nephrotic syndrome
has OBO namespace: disease_ontology
id: DOID:10966
in subset: NCIthesaurus

salpingo-oophoritis
type: Class
subclass of: ovarian disease
has db xref: ICD10CM:N70
has db xref: ICD9CM:614.2
has db xref: NCI:C171201
has db xref: SNOMEDCT_US_2023_03_01:46536000
has db xref: UMLS_CUI:C0036133
has exact synonym: Salpingitis/oophoritis
has exact synonym: Tubo-ovarian inflammatory disease
has OBO namespace: disease_ontology
id: DOID:10972
in subset: NCIthesaurus

acute salpingitis
type: Class
subclass of: DOID 5733
has db xref: ICD10CM:N70.01
has db xref: NCI:C40120
has db xref: SNOMEDCT_US_2023_03_01:8912009
has db xref: UMLS_CUI:C0269038
has OBO namespace: disease_ontology
id: DOID:10973
in subset: NCIthesaurus

membranous glomerulonephritis
type: Class
subclass of: glomerulonephritis
has db xref: EFO:0004254
has db xref: ICD10CM:N03.2
has db xref: MESH:D015433
has db xref: NCI:C34645
has db xref: SNOMEDCT_US_2023_03_01:197710000
has db xref: UMLS_CUI:C0017665
has exact synonym: membranous nephropathy
has OBO namespace: disease_ontology
id: DOID:10976
in subset: NCIthesaurus

hemolytic disease of the fetus
type: Class
subclass of: anemia
IAO_0000115: A microcytic anemia that is characterized by Rho(D) incompatibility, which may develop when a woman with Rh-negative blood is impregnated by an individual with Rh-positive blood and conceives a fetus with Rh-positive blood, sometimes resulting in hemolysis.
has db xref: ICD10CM:P55
has db xref: ICD9CM:773
has db xref: MESH:D004899
has db xref: NCI:C101304
has db xref: SNOMEDCT_US_2023_03_01:111468003
has db xref: UMLS_CUI:C0014761
has exact synonym: EF - Erythroblastosis foetalis
has exact synonym: Haemolytic disease due to rhesus isoimmunisation
has exact synonym: Hemolytic disease of the fetus and newborn
has exact synonym: alloimmune HDFN
has exact synonym: erythroblastosis fetalis
has exact synonym: fetal erythroblastosis
has exact synonym: rhesus isoimmunisation of the newborn
has OBO namespace: disease_ontology
id: DOID:1098
in subset: NCIthesaurus

Axiom
annotated source: hemolytic disease of the fetus
annotated property: IAO_0000115
annotated target: A microcytic anemia that is characterized by Rho(D) incompatibility, which may develop when a woman with Rh-negative blood is impregnated by an individual with Rh-positive blood and conceives a fetus with Rh-positive blood, sometimes resulting in hemolysis.
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK557423/

conjunctival vascular disease
type: Class
subclass of: conjunctival disease
has db xref: ICD10CM:H11.41
has db xref: ICD9CM:372.74
has db xref: NCI:C35116
has db xref: SNOMEDCT_US_2023_03_01:74100001
has db xref: UMLS_CUI:C0042370
has exact synonym: Conjunctival vascular abnormality
has exact synonym: vascular abnormalities of conjunctiva
has OBO namespace: disease_ontology
id: DOID:10989
in subset: NCIthesaurus

alpha thalassemia
type: Class
subclass of: thalassemia
IAO_0000115: A thalassemia involving the genes HBA1and HBA2 hemoglobin genes.
has db xref: GARD:621
has db xref: ICD10CM:D56.0
has db xref: ICD9CM:282.43
has db xref: MESH:D017085
has db xref: MIM:604131
has db xref: NCI:C34368
has db xref: SNOMEDCT_US_2023_03_01:191186002
has db xref: UMLS_CUI:C0002312
has exact synonym: Alpha thalassaemia
has exact synonym: alpha-Thalassemia
has OBO namespace: disease_ontology
id: DOID:1099
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: alpha thalassemia
annotated property: IAO_0000115
annotated target: A thalassemia involving the genes HBA1and HBA2 hemoglobin genes.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Alpha_Thalassemia

acute hemorrhagic leukoencephalitis
type: Class
subclass of: DOID 639
IAO_0000115: A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema.
has db xref: GARD:8629
has db xref: MESH:D004684
has db xref: MIM:606752
has db xref: NCI:C84535
has db xref: SNOMEDCT_US_2023_03_01:72986009
has db xref: UMLS_CUI:C0014077
has exact synonym: AHL
has exact synonym: Weston-Hurst syndrome
has exact synonym: acute haemorrhagic leucoencephalitis of Weston Hurst
has exact synonym: acute hemorrhagic encephalomyelitis
has exact synonym: acute necrotizing hemorrhagic leukoencephalitis
has OBO namespace: disease_ontology
id: DOID:10992
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: acute hemorrhagic leukoencephalitis
annotated property: IAO_0000115
annotated target: A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Acute_disseminated_encephalomyelitis#Acute_hemorrhagic_leukoencephalitis

Axiom
annotated source: acute hemorrhagic leukoencephalitis
annotated property: hasExactSynonym
annotated target: AHL
has synonym type: OMO_0003012

lens disease
type: Class
subclass of: DOID 5614
IAO_0000115: An eye disease that affects the lens of the eye, which is the transparent disc that focuses light to the photosensors in the back of the eye.
has db xref: ICD10CM:H27.9
has db xref: MESH:D007905
has db xref: NCI:C26812
has db xref: SNOMEDCT_US_2023_03_01:194613002
has db xref: UMLS_CUI:C0023308
has OBO namespace: disease_ontology
id: DOID:110
in subset: NCIthesaurus

Axiom
annotated source: lens disease
annotated property: IAO_0000115
annotated target: An eye disease that affects the lens of the eye, which is the transparent disc that focuses light to the photosensors in the back of the eye.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Lens_(anatomy)

ovarian disease
type: Class
subclass of: reproductive system disease
IAO_0000115: A female reproductive system disease that is located_in the ovary.
has db xref: MESH:D010049
has db xref: NCI:C26841
has db xref: SNOMEDCT_US_2023_03_01:5552004
has db xref: UMLS_CUI:C0029928
has OBO namespace: disease_ontology
id: DOID:1100
in subset: NCIthesaurus

Axiom
annotated source: ovarian disease
annotated property: IAO_0000115
annotated target: A female reproductive system disease that is located_in the ovary.
type: ECO_0007644
has db xref: url:https://medlineplus.gov/ovariandisorders.html

pinguecula
type: Class
subclass of: DOID 5614
has db xref: ICD10CM:H11.15
has db xref: ICD9CM:372.51
has db xref: MESH:D059407
has db xref: NCI:C129468
has db xref: SNOMEDCT_US_2023_03_01:267735001
has db xref: UMLS_CUI:C0152255
has OBO namespace: disease_ontology
id: DOID:11029
in subset: NCIthesaurus

corneal edema
type: Class
subclass of: corneal disease
has db xref: ICD10CM:H18.20
has db xref: ICD9CM:371.2
has db xref: MESH:D015715
has db xref: NCI:C50508
has db xref: SNOMEDCT_US_2023_03_01:193811006
has db xref: UMLS_CUI:C0010037
has exact synonym: Corneal oedema
has OBO namespace: disease_ontology
id: DOID:11030
in subset: NCIthesaurus

bullous keratopathy
type: Class
subclass of: corneal edema
has db xref: ICD10CM:H18.1
has db xref: ICD9CM:371.23
has db xref: NCI:C26970
has db xref: SNOMEDCT_US_2023_03_01:193815002
has db xref: UMLS_CUI:C0155111
has OBO namespace: disease_ontology
id: DOID:11031
in subset: NCIthesaurus

dissociative amnesia
type: Class
subclass of: dissociative disorder
IAO_0000115: A dissociative disorder where he continuity of the patient's memory is disrupted. Patients with dissociative amnesia have recurrent episodes in which they forget important personal information or events, usually connected with trauma or severe stress.
has db xref: ICD10CM:F44.0
has db xref: ICD9CM:300.12
has db xref: MESH:D000647
has db xref: NCI:C94328
has db xref: SNOMEDCT_US_2023_03_01:192420000
has db xref: UMLS_CUI:C0236795
has exact synonym: psychogenic amnesia
has OBO namespace: disease_ontology
id: DOID:11037
in subset: NCIthesaurus

Axiom
annotated source: dissociative amnesia
annotated property: IAO_0000115
annotated target: A dissociative disorder where he continuity of the patient's memory is disrupted. Patients with dissociative amnesia have recurrent episodes in which they forget important personal information or events, usually connected with trauma or severe stress.
has db xref: url:https://www.merckmanuals.com/professional/psychiatric-disorders/dissociative-disorders/dissociative-amnesia

depersonalization disorder
type: Class
subclass of: dissociative disorder
IAO_0000115: A dissociative disorder in which the sufferer is affected by persistent or recurrent feelings of depersonalization and/or derealization.
has db xref: GARD:6260
has db xref: ICD9CM:300.6
has db xref: MESH:D003861
has db xref: NCI:C94331
has db xref: SNOMEDCT_US_2023_03_01:70764005
has db xref: UMLS_CUI:C0683416
has exact synonym: Neurotic derealization
has OBO namespace: disease_ontology
id: DOID:11038
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: depersonalization disorder
annotated property: IAO_0000115
annotated target: A dissociative disorder in which the sufferer is affected by persistent or recurrent feelings of depersonalization and/or derealization.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Depersonalization_disorder

Felty's syndrome
type: Class
subclass of: disease
IAO_0000115: An autoimmune disease that results_in rheumatoid arthritis, splenomegaly and neutropenia.
has db xref: GARD:8234
has db xref: ICD10CM:M05.0
has db xref: ICD9CM:714.1
has db xref: MESH:D005258
has db xref: MIM:134750
has db xref: NCI:C84712
has db xref: SNOMEDCT_US_2023_03_01:57160007
has db xref: UMLS_CUI:C0015773
has exact synonym: Felty syndrome
has exact synonym: Rheumatoid arthritis with splenoadenomegaly and leukopenia
has OBO namespace: disease_ontology
id: DOID:11042
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Felty's syndrome
annotated property: IAO_0000115
annotated target: An autoimmune disease that results_in rheumatoid arthritis, splenomegaly and neutropenia.
type: ECO_0007638
type: ECO_0007640
has db xref: url:http://en.wikipedia.org/wiki/Felty%27s_syndrome
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/000445.htm

gastroschisis
type: Class
subclass of: disease
has db xref: GARD:8661
has db xref: ICD10CM:Q79.3
has db xref: ICD9CM:756.73
has db xref: MESH:D020139
has db xref: MIM:230750
has db xref: NCI:C84725
has db xref: SNOMEDCT_US_2023_03_01:72951007
has db xref: UMLS_CUI:C0265706
has OBO namespace: disease_ontology
id: DOID:11044
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

meconium aspiration syndrome
type: Class
subclass of: DOID 850
IAO_0000115: A lung disease that is characterized by a newborn breathing in a mixture of meconium and amniotic fluid into the lungs around the time of delivery.
has db xref: GARD:10494
has db xref: ICD10CM:P24.01
has db xref: MESH:D008471
has db xref: NCI:C87093
has db xref: SNOMEDCT_US_2023_03_01:85779008
has db xref: UMLS_CUI:C0025048
has exact synonym: Neonatal aspiration of meconium
has exact synonym: meconium aspiration
has OBO namespace: disease_ontology
id: DOID:11049
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: meconium aspiration syndrome
annotated property: IAO_0000115
annotated target: A lung disease that is characterized by a newborn breathing in a mixture of meconium and amniotic fluid into the lungs around the time of delivery.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/27206687/

urinary bladder cancer
type: Class
subclass of: cancer
IAO_0000115: An urinary system cancer that results_in malignant growth located_in the urinary bladder.
has alternative id: DOID:5428
has db xref: GARD:12210
has db xref: ICD10CM:C67
has db xref: ICD9CM:188
has db xref: KEGG:05219
has db xref: MESH:D001749
has db xref: MIM:109800
has db xref: NCI:C2901
has db xref: NCI:C9334
has db xref: SNOMEDCT_US_2023_03_01:126885006
has db xref: SNOMEDCT_US_2023_03_01:363455001
has db xref: UMLS_CUI:C0005684
has db xref: UMLS_CUI:C0005695
has exact synonym: bladder cancer
has exact synonym: tumor of the bladder
has OBO namespace: disease_ontology
id: DOID:11054
in subset: DO CFDE slim
in subset: DO RAD slim
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: urinary bladder cancer
annotated property: IAO_0000115
annotated target: An urinary system cancer that results_in malignant growth located_in the urinary bladder.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Bladder_cancer

esophagus lymphoma
type: Class
subclass of: DOID 5041
has db xref: NCI:C5687
has db xref: UMLS_CUI:C1333459
has exact synonym: Lymphoma of esophagus
has exact synonym: Lymphoma of oesophagus
has exact synonym: oesophagus lymphoma
has OBO namespace: disease_ontology
id: DOID:1106
in subset: NCIthesaurus

placenta praevia
type: Class
subclass of: DOID 780
IAO_0000115: A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix.
has db xref: ICD10CM:O44
has db xref: MESH:D010923
has db xref: NCI:C26858
has db xref: SNOMEDCT_US_2023_03_01:157059004
has db xref: UMLS_CUI:C0032046
has OBO namespace: disease_ontology
id: DOID:11060
in subset: NCIthesaurus

Axiom
annotated source: placenta praevia
annotated property: IAO_0000115
annotated target: A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Placenta_previa

esophageal carcinoma
type: Class
subclass of: DOID 5041
IAO_0000115: A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
has db xref: EFO:0002916
has db xref: NCI:C3513
has db xref: SNOMEDCT_US_2023_03_01:255079005
has db xref: UMLS_CUI:C0152018
has exact synonym: cancer of esophagus
has exact synonym: cancer of oesophagus
has exact synonym: carcinoma of esophagus
has exact synonym: carcinoma of oesophagus
has OBO namespace: disease_ontology
id: DOID:1107
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: esophageal carcinoma
annotated property: IAO_0000115
annotated target: A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Esophageal_cancer

brucellosis
type: Class
subclass of: bacterial infectious disease
IAO_0000115: A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue.
has alternative id: DOID:0050060
has db xref: GARD:5966
has db xref: ICD10CM:A23
has db xref: ICD9CM:023
has db xref: MESH:D002006
has db xref: NCI:C84602
has db xref: SNOMEDCT_US_2023_03_01:154296006
has db xref: UMLS_CUI:C0006309
has exact synonym: Maltese fever
has exact synonym: undulant fever
has OBO namespace: disease_ontology
has related synonym: Bang's disease
has related synonym: Gibraltar fever
has related synonym: Malta fever
has related synonym: Mediterranean fever
id: DOID:11077
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus
in subset: gram-negative bacterial infectious disease
in subset: zoonotic infectious disease

Axiom
annotated source: brucellosis
annotated property: IAO_0000115
annotated target: A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue.
type: ECO_0007637
has db xref: url:http://www.cdc.gov/ncidod/dbmd/diseaseinfo/Brucellosis_g.htm

esophagus melanoma
type: Class
subclass of: DOID 5041
has db xref: NCI:C5707
has db xref: UMLS_CUI:C1333460
has exact synonym: melanoma of esophagus
has exact synonym: melanoma of oesophagus
has exact synonym: oesophagus melanoma
has OBO namespace: disease_ontology
id: DOID:1108
in subset: NCIthesaurus

myiasis
type: Class
subclass of: parasitic infectious disease
IAO_0000115: A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue.
has db xref: ICD10CM:B87
has db xref: ICD9CM:134.0
has db xref: MESH:D009198
has db xref: NCI:C128400
has db xref: SNOMEDCT_US_2023_03_01:266225001
has db xref: UMLS_CUI:C0027030
has exact synonym: Infestation by fly larvae
has exact synonym: Infestation by maggots
has exact synonym: Maggot infestation
has OBO namespace: disease_ontology
id: DOID:11080
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: myiasis
annotated property: IAO_0000115
annotated target: A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Myiasis
has db xref: url:http://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm

Q fever
type: Class
subclass of: bacterial infectious disease
IAO_0000115: A primary bacterial infectious disease that is a zoonotic infectious disease affecting multiple organs, has_material_basis_in Coxiella burnetii, which is transmitted_by inhalation of air contaminated by barnyard dust containing dried placental material, birth fluids, or excreta of infected herd animals, transmitted_by ingestion of contaminated milk, transmitted_by tick bites and transmitted_by contact with infected person. The infection has_symptom fever, has_symptom headache, has_symptom cough, has_symptom pleuritic chest pain, has_symptom myalgia and has_symptom arthralgia.
has db xref: GARD:7515
has db xref: ICD10CM:A78
has db xref: ICD9CM:083.0
has db xref: MESH:D011778
has db xref: NCI:C34970
has db xref: SNOMEDCT_US_2023_03_01:266205000
has db xref: UMLS_CUI:C0034362
has exact synonym: Infection due to Coxiella burnetii
has OBO namespace: disease_ontology
id: DOID:11100
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus
in subset: gram-negative bacterial infectious disease
in subset: zoonotic infectious disease

Axiom
annotated source: Q fever
annotated property: IAO_0000115
annotated target: A primary bacterial infectious disease that is a zoonotic infectious disease affecting multiple organs, has_material_basis_in Coxiella burnetii, which is transmitted_by inhalation of air contaminated by barnyard dust containing dried placental material, birth fluids, or excreta of infected herd animals, transmitted_by ingestion of contaminated milk, transmitted_by tick bites and transmitted_by contact with infected person. The infection has_symptom fever, has_symptom headache, has_symptom cough, has_symptom pleuritic chest pain, has_symptom myalgia and has_symptom arthralgia.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/Q_fever
has db xref: url:http://www.cdc.gov/qfever/symptoms/index.html
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/15021054

bartonellosis
type: Class
subclass of: bacterial infectious disease
IAO_0000115: A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella.
has db xref: ICD10CM:A44
has db xref: ICD9CM:088.0
has db xref: MESH:D001474
has db xref: NCI:C84586
has db xref: SNOMEDCT_US_2023_03_01:17116008
has db xref: UMLS_CUI:C0004771
has exact synonym: Bartonella infectious disease
has exact synonym: Rochalimaea infection
has exact synonym: bartonelliasis
has OBO namespace: disease_ontology
id: DOID:11102
in subset: DO infectious disease slim
in subset: GOLD
in subset: NCIthesaurus
in subset: gram-negative bacterial infectious disease

Axiom
annotated source: bartonellosis
annotated property: IAO_0000115
annotated target: A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Bartonellosis

hydronephrosis
type: Class
subclass of: urinary system disease
IAO_0000115: An urinary system disease that is characterized by swelling of one or both kidneys due to incomplete voiding of urine.
has db xref: ICD10CM:N13.30
has db xref: ICD9CM:591
has db xref: MESH:D006869
has db xref: NCI:C26796
has db xref: SNOMEDCT_US_2023_03_01:155866001
has db xref: UMLS_CUI:C0020295
has OBO namespace: disease_ontology
id: DOID:11111
in subset: NCIthesaurus

Axiom
annotated source: hydronephrosis
annotated property: IAO_0000115
annotated target: An urinary system disease that is characterized by swelling of one or both kidneys due to incomplete voiding of urine.
has db xref: url:https://my.clevelandclinic.org/health/diseases/15417-hydronephrosis
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/39690090/

Gilles de la Tourette syndrome
type: Class
subclass of: disease of mental health
IAO_0000115: A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year.
has db xref: EFO:0004895
has db xref: GARD:7783
has db xref: ICD10CM:F95.2
has db xref: ICD9CM:307.23
has db xref: MESH:D005879
has db xref: MIM:137580
has db xref: NCI:C35078
has db xref: SNOMEDCT_US_2023_03_01:5158005
has db xref: UMLS_CUI:C0040517
has exact synonym: Guinon's disease
has exact synonym: Psychogenic tics
has exact synonym: Tourette syndrome
has exact synonym: motor-verbal tic disorder
has OBO namespace: disease_ontology
id: DOID:11119
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Gilles de la Tourette syndrome
annotated property: IAO_0000115
annotated target: A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Tic_disorder
has db xref: url:http://en.wikipedia.org/wiki/Tourette%27s_disorder

pulpitis
type: Class
subclass of: DOID 5330
IAO_0000115: A dental pulp disease characterized by inflammation.
has db xref: ICD10CM:K04.0
has db xref: ICD9CM:522.0
has db xref: MESH:D011671
has db xref: NCI:C52595
has db xref: SNOMEDCT_US_2023_03_01:155638006
has db xref: UMLS_CUI:C0034103
has exact synonym: pulp stones
has OBO namespace: disease_ontology
id: DOID:11121
in subset: NCIthesaurus

Axiom
annotated source: pulpitis
annotated property: IAO_0000115
annotated target: A dental pulp disease characterized by inflammation.
type: ECO_0007637
type: ECO_0007641
has db xref: url:https://www.ada.org/publications/cdt/glossary-of-dental-clinical-terms
has db xref: url:https://www.merckmanuals.com/professional/dental-disorders/common-dental-disorders/pulpitis

IgA vasculitis
type: Class
subclass of: DOID 9809
IAO_0000115: A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection.
has db xref: GARD:8204
has db xref: ICD10CM:D69.0
has db xref: ICD9CM:287.0
has db xref: MESH:D011695
has db xref: NCI:C34963
has db xref: ORDO:761
has db xref: SNOMEDCT_US_2023_03_01:191306005
has db xref: UMLS_CUI:C0034152
has exact synonym: Allergic purpura
has exact synonym: Autoimmune purpura
has exact synonym: HSP
has exact synonym: Henoch Schoenlein purpura
has exact synonym: Henoch Scholein purpura
has exact synonym: Henoch Schonlein purpura
has exact synonym: Henoch Schönlein purpura
has exact synonym: Henoch-Schoenlein purpura
has exact synonym: Henoch-Scholein purpura
has exact synonym: Henoch-Schonlein purpura
has exact synonym: Henoch-Schönlein purpura
has exact synonym: IgAV
has exact synonym: Purpura, autoimmune
has exact synonym: immunoglobulin A vasculitis
has OBO namespace: disease_ontology
id: DOID:11123
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: IgA vasculitis
annotated property: IAO_0000115
annotated target: A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection.
type: ECO_0007637
has db xref: url:https://rarediseases.info.nih.gov/diseases/8204/henoch-schonlein-purpura

Axiom
annotated source: IgA vasculitis
annotated property: hasExactSynonym
annotated target: HSP
has synonym type: OMO_0003012

Axiom
annotated source: IgA vasculitis
annotated property: hasExactSynonym
annotated target: IgAV
has synonym type: OMO_0003012

secondary hypertension
type: Class
subclass of: hypertension
has db xref: ICD10CM:I15
has db xref: ICD9CM:405
has db xref: NCI:C3657
has db xref: SNOMEDCT_US_2023_03_01:155300002
has db xref: UMLS_CUI:C0155616
has OBO namespace: disease_ontology
id: DOID:11130
in subset: NCIthesaurus

esophagus sarcoma
type: Class
subclass of: DOID 5041
IAO_0000115: An esophageal cancer that arises from transformed cells of mesenchymal origin sarcoma and located_in the esophagus.
has db xref: NCI:C5341
has db xref: UMLS_CUI:C1333466
has OBO namespace: disease_ontology
has related synonym: esophageal sarcoma
id: DOID:1114
in subset: NCIthesaurus

Axiom
annotated source: esophagus sarcoma
annotated property: IAO_0000115
annotated target: An esophageal cancer that arises from transformed cells of mesenchymal origin sarcoma and located_in the esophagus.
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/Sarcoma
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/1658495

cholecystolithiasis
type: Class
subclass of: gallbladder disease
has db xref: MESH:D041761
has db xref: NCI:C34443
has db xref: SNOMEDCT_US_2023_03_01:235919008
has db xref: UMLS_CUI:C0947622
has OBO namespace: disease_ontology
id: DOID:11151
in subset: NCIthesaurus

hypohidrosis
type: Class
subclass of: skin disease
IAO_0000115: A sweat gland disease that is characterized by reduced ability to sweat, has_symptom hyperthermia and dry skin of affected areas, and has_material_basis_in trauma to the sweat glands.
has db xref: ICD10CM:L74.4
has db xref: MESH:D007007
has db xref: NCI:C34718
has db xref: SNOMEDCT_US_2023_03_01:201189007
has db xref: UMLS_CUI:C0020620
has exact synonym: Oligohidrosis
has OBO namespace: disease_ontology
id: DOID:11155
in subset: NCIthesaurus

Axiom
annotated source: hypohidrosis
annotated property: IAO_0000115
annotated target: A sweat gland disease that is characterized by reduced ability to sweat, has_symptom hyperthermia and dry skin of affected areas, and has_material_basis_in trauma to the sweat glands.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Hypohidrosis

anhidrosis
type: Class
subclass of: hypohidrosis
IAO_0000115: A hypohidrosis that is characterized by the inability to sweat and has_symptom hyperthermia and dry skin.
has db xref: ICD10CM:L74.4
has db xref: ICD9CM:705.0
has db xref: MESH:D007007
has db xref: MIM:206600
has db xref: NCI:C34385
has db xref: SNOMEDCT_US_2023_03_01:201189007
has db xref: UMLS_CUI:C0003028
has exact synonym: Adiaphoresis
has exact synonym: absence of sweating
has OBO namespace: disease_ontology
id: DOID:11156
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: anhidrosis
annotated property: IAO_0000115
annotated target: A hypohidrosis that is characterized by the inability to sweat and has_symptom hyperthermia and dry skin.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Hypohidrosis
has db xref: url:https://my.clevelandclinic.org/health/diseases/15891-anhidrosis-lack-of-sweat

respiratory failure
type: Class
subclass of: DOID 850
IAO_0000115: A lung disease characterized by inadequate gas exchange by the respiratory system.
has alternative id: DOID:11391
has alternative id: DOID:11392
has alternative id: DOID:11393
has db xref: ICD10CM:J96.0
has db xref: ICD9CM:518.81
has db xref: NCI:C27043
has db xref: SNOMEDCT_US_2023_03_01:65710008
has db xref: UMLS_CUI:C0264490
has exact synonym: acute and chronic respiratory failure
has exact synonym: acute respiratory Failure
has exact synonym: acute-on-chronic respiratory failure
has exact synonym: chronic respiratory failure
has exact synonym: respiratory insufficiency/failure
has OBO namespace: disease_ontology
id: DOID:11162
in subset: NCIthesaurus

Axiom
annotated source: respiratory failure
annotated property: IAO_0000115
annotated target: A lung disease characterized by inadequate gas exchange by the respiratory system.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Respiratory_failure

band keratopathy
type: Class
subclass of: DOID 5614
has db xref: ICD10CM:H18.42
has db xref: ICD9CM:371.43
has db xref: MESH:C562399
has db xref: MIM:217500
has db xref: NCI:C118765
has db xref: SNOMEDCT_US_2023_03_01:35055000
has db xref: UMLS_CUI:C0155120
has exact synonym: Band-shaped keratopathy
has OBO namespace: disease_ontology
id: DOID:11164
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

common wart
type: Class
subclass of: DOID 934
IAO_0000115: A viral infectious disease that results_in infection located_in skin, has_material_basis_in human papillomavirus (types 2 and 4). This infection is characterized by a raised wart with roughened surface, most common on hands, but can grow anywhere on the body.
has db xref: NCI:C5028
has db xref: SNOMEDCT_US_2023_03_01:30285000
has db xref: UMLS_CUI:C0043037
has OBO namespace: disease_ontology
id: DOID:11165
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: common wart
annotated property: IAO_0000115
annotated target: A viral infectious disease that results_in infection located_in skin, has_material_basis_in human papillomavirus (types 2 and 4). This infection is characterized by a raised wart with roughened surface, most common on hands, but can grow anywhere on the body.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Wart

anogenital venereal wart
type: Class
subclass of: DOID 934
IAO_0000115: A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts.
has alternative id: DOID:7877
has db xref: ICD10CM:A63.0
has db xref: ICD9CM:078.11
has db xref: MESH:D003218
has db xref: NCI:C2960
has db xref: NCI:C4820
has db xref: SNOMEDCT_US_2023_03_01:240542006
has db xref: SNOMEDCT_US_2023_03_01:302812006
has db xref: UMLS_CUI:C0009663
has db xref: UMLS_CUI:C0554632
has exact synonym: Anogenital Human papilloma Virus Infectious Disease
has exact synonym: Anogenital warts
has exact synonym: Genital warts
has exact synonym: genital wart virus infectious disease
has exact synonym: venereal wart
has OBO namespace: disease_ontology
has related synonym: Condyloma acuminatum
id: DOID:11168
in subset: DO infectious disease slim
in subset: NCIthesaurus
in subset: sexually transmitted infectious disease

Axiom
annotated source: anogenital venereal wart
annotated property: IAO_0000115
annotated target: A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts.
type: ECO_0007637
has db xref: url:http://www.merckmanuals.com/professional/sec14/ch194/ch194d.html

enophthalmos
type: Class
subclass of: DOID 65
has db xref: ICD10CM:H05.4
has db xref: ICD9CM:376.5
has db xref: MESH:D015841
has db xref: NCI:C79552
has db xref: SNOMEDCT_US_2023_03_01:267746003
has db xref: UMLS_CUI:C0014306
has OBO namespace: disease_ontology
id: DOID:11175
in subset: NCIthesaurus

pulp degeneration
type: Class
subclass of: DOID 5330
has db xref: ICD10CM:K04.2
has db xref: ICD9CM:522.2
has db xref: NCI:C34962
has db xref: SNOMEDCT_US_2023_03_01:22361007
has db xref: UMLS_CUI:C0034100
has OBO namespace: disease_ontology
id: DOID:11189
in subset: NCIthesaurus

pseudomembranous conjunctivitis
type: Class
subclass of: DOID 6195
IAO_0000115: A acute conjunctivitis which involves a fibrin-rich exudate formation on the surface of the conjunctiva. Infectious causes of pseudomembranes include Corynebacterium diphtheriae, streptococci, pneumococci, herpes simplex virus, adenovirus, Chlamydia and gonococci. Other causes include chemical (alkali) irritants, erythema multiforme, and ocular pemphigoid.
has db xref: ICD10CM:H10.22
has db xref: ICD9CM:372.04
has db xref: NCI:C35196
has db xref: SNOMEDCT_US_2023_03_01:267643002
has db xref: UMLS_CUI:C0155144
has OBO namespace: disease_ontology
id: DOID:11190
in subset: NCIthesaurus

Axiom
annotated source: pseudomembranous conjunctivitis
annotated property: IAO_0000115
annotated target: A acute conjunctivitis which involves a fibrin-rich exudate formation on the surface of the conjunctiva. Infectious causes of pseudomembranes include Corynebacterium diphtheriae, streptococci, pneumococci, herpes simplex virus, adenovirus, Chlamydia and gonococci. Other causes include chemical (alkali) irritants, erythema multiforme, and ocular pemphigoid.
type: ECO_0007645
has db xref: url:http://bjo.bmj.com/content/55/5/312.full.pdf
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/9400798

syndactyly
type: Class
subclass of: dysostosis
IAO_0000115: A synostosis that results_in the fusion of two or more digits.
has db xref: GARD:13181
has db xref: ICD10CM:Q70
has db xref: ICD9CM:755.1
has db xref: MESH:D013576
has db xref: NCI:C87125
has db xref: ORDO:295012
has db xref: ORDO:90025
has db xref: ORDO:93403
has db xref: SNOMEDCT_US_2023_03_01:156989004
has db xref: UMLS_CUI:C0039075
has exact synonym: symphalangism
has exact synonym: symphalangy
has exact synonym: webbing of digits
has OBO namespace: disease_ontology
id: DOID:11193
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: syndactyly
annotated property: IAO_0000115
annotated target: A synostosis that results_in the fusion of two or more digits.
type: ECO_0007638
type: ECO_0007646
has db xref: url:http://en.wikipedia.org/wiki/Syndactyly
has db xref: url:http://www.hmc.psu.edu/healthinfo/pq/poly.htm
has db xref: url:http://www.wheelessonline.com/ortho/syndactyly

DiGeorge syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production.
has db xref: GARD:10299
has db xref: ICD10CM:D82.1
has db xref: ICD9CM:279.11
has db xref: MESH:D004062
has db xref: MIM:188400
has db xref: NCI:C2989
has db xref: SNOMEDCT_US_2023_03_01:190991007
has db xref: UMLS_CUI:C0012236
has exact synonym: 22q11.2 deletion syndrome
has exact synonym: DiGeorge sequence
has exact synonym: DiGeorge's syndrome
has exact synonym: Pharyngeal pouch syndrome
has OBO namespace: disease_ontology
id: DOID:11198
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: DiGeorge syndrome
annotated property: IAO_0000115
annotated target: A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production.
type: ECO_0007643
type: ECO_0007646
has db xref: url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=digeorgesyndrome
has db xref: url:https://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome

hypoparathyroidism
type: Class
subclass of: parathyroid gland disease
IAO_0000115: A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood.
has db xref: GARD:6733
has db xref: ICD10CM:E20
has db xref: ICD9CM:252.1
has db xref: MESH:D007011
has db xref: NCI:C78350
has db xref: ORDO:2238
has db xref: SNOMEDCT_US_2023_03_01:154697005
has db xref: UMLS_CUI:C0020626
has OBO namespace: disease_ontology
id: DOID:11199
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: hypoparathyroidism
annotated property: IAO_0000115
annotated target: A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Hypoparathyroidism
has db xref: url:http://ghr.nlm.nih.gov/glossary=hypoparathyroidism
has db xref: url:http://www.mayoclinic.org/diseases-conditions/hypoparathyroidism/basics/definition/con-20030780?_ga=1.221847067.2017809229.1415219956

esophageal varix
type: Class
subclass of: vascular disease
has alternative id: DOID:111
has alternative id: DOID:13536
has alternative id: DOID:14031
has db xref: GARD:6384
has db xref: ICD10CM:I85.01
has db xref: ICD9CM:456.0
has db xref: ICD9CM:456.2
has db xref: ICD9CM:456.20
has db xref: NCI:C78282
has db xref: SNOMEDCT_US_2023_03_01:195475003
has db xref: SNOMEDCT_US_2023_03_01:195643006
has db xref: SNOMEDCT_US_2023_03_01:236067006
has db xref: UMLS_CUI:C0155789
has db xref: UMLS_CUI:C0155791
has db xref: UMLS_CUI:C0155792
has exact synonym: Bleeding esophageal varices
has exact synonym: Bleeding oesophageal varices
has exact synonym: esophageal varices
has exact synonym: esophageal varices in disease classified elsewhere, with bleeding
has exact synonym: esophageal varices with bleeding
has exact synonym: esophageal varices with bleeding in disease EC
has exact synonym: esophageal varices without bleeding
has exact synonym: esophageal varices without mention of bleeding
has OBO namespace: disease_ontology
id: DOID:112
in subset: DO rare slim
in subset: NCIthesaurus

T cell deficiency
type: Class
subclass of: DOID 612
IAO_0000115: A primary immunodeficiency disease that is characterized by decreased numbers of circulating or functioning T cells.
has alternative id: DOID:613
has db xref: NCI:C27145
has db xref: NCI:C27872
has db xref: SNOMEDCT_US_2023_03_01:402792003
has db xref: UMLS_CUI:C1274233
has db xref: UMLS_CUI:C1333147
has exact synonym: T cell immunodeficiency
has exact synonym: T lymphocyte deficiency
has exact synonym: T lymphocyte immunodeficiency
has OBO namespace: disease_ontology
id: DOID:11200
in subset: NCIthesaurus

Axiom
annotated source: T cell deficiency
annotated property: IAO_0000115
annotated target: A primary immunodeficiency disease that is characterized by decreased numbers of circulating or functioning T cells.
type: ECO_0007638
type: ECO_0007645
has db xref: url:https://en.wikipedia.org/wiki/T_cell_deficiency
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/18755723

parathyroid gland disease
type: Class
subclass of: endocrine system disease
IAO_0000115: An endocrine system disease that is located_in the parathyroid gland.
has db xref: ICD10CM:E21.5
has db xref: ICD9CM:252.9
has db xref: MESH:D010279
has db xref: NCI:C26844
has db xref: SNOMEDCT_US_2023_03_01:73132005
has db xref: UMLS_CUI:C0030517
has exact synonym: disease of parathyroid glands
has OBO namespace: disease_ontology
id: DOID:11201
in subset: NCIthesaurus

Axiom
annotated source: parathyroid gland disease
annotated property: IAO_0000115
annotated target: An endocrine system disease that is located_in the parathyroid gland.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Parathyroid_disease

primary hyperparathyroidism
type: Class
subclass of: hyperparathyroidism
IAO_0000115: A hyperparathyroidism that is characterized by overproduction of parathyroid hormone and elevated levels of calcium in the blood.
has alternative id: DOID:14790
has db xref: GARD:8612
has db xref: ICD10CM:E21.0
has db xref: ICD9CM:252.01
has db xref: MESH:D049950
has db xref: MIM:600166
has db xref: NCI:C48280
has db xref: ORDO:99878
has db xref: SNOMEDCT_US_2023_03_01:190452007
has db xref: SNOMEDCT_US_2023_03_01:54920000
has db xref: UMLS_CUI:C0221002
has db xref: UMLS_CUI:C0271846
has exact synonym: familial primary hyperparathyroidism
has OBO namespace: disease_ontology
id: DOID:11202
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: primary hyperparathyroidism
annotated property: IAO_0000115
annotated target: A hyperparathyroidism that is characterized by overproduction of parathyroid hormone and elevated levels of calcium in the blood.
has db xref: url:https://rarediseases.org/rare-diseases/primary-hyperparathyroidism/

Angelucci's syndrome
type: Class
subclass of: allergic conjunctivitis
has db xref: ICD10CM:H10.1
has db xref: ICD9CM:372.05
has db xref: NCI:C34353
has db xref: SNOMEDCT_US_2023_03_01:193863004
has db xref: UMLS_CUI:C0001309
has exact synonym: Angelucci syndrome
has exact synonym: acute atopic conjunctivitis
has OBO namespace: disease_ontology
id: DOID:11203
in subset: NCIthesaurus

allergic conjunctivitis
type: Class
subclass of: chronic conjunctivitis
IAO_0000115: A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant.
has db xref: MESH:D003233
has db xref: NCI:C34506
has db xref: SNOMEDCT_US_2023_03_01:231854006
has db xref: UMLS_CUI:C0009766
has OBO namespace: disease_ontology
id: DOID:11204
in subset: NCIthesaurus

Axiom
annotated source: allergic conjunctivitis
annotated property: IAO_0000115
annotated target: A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Allergic_conjunctivitis
comment: ls:IEDB

hydrophthalmos
type: Class
subclass of: glaucoma
IAO_0000115: A primary congenital glaucoma characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure and increased corneal diameter and has_symptom early vision loss, increased corneal diameter, and increased corneal thickness. Hydrophthalmus is caused by congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss.
has db xref: ICD10CM:Q15.0
has db xref: MESH:D006871
has db xref: NCI:C50648
has db xref: SNOMEDCT_US_2023_03_01:392368005
has db xref: UMLS_CUI:C0020302
has OBO namespace: disease_ontology
id: DOID:11212
in subset: NCIthesaurus

Axiom
annotated source: hydrophthalmos
annotated property: IAO_0000115
annotated target: A primary congenital glaucoma characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure and increased corneal diameter and has_symptom early vision loss, increased corneal diameter, and increased corneal thickness. Hydrophthalmus is caused by congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss.
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK1135/

acute contagious conjunctivitis
type: Class
subclass of: DOID 6195
IAO_0000115: A bacterial acute conjunctivitis that is characterized by highly contagious conjunctival hypermia and mucopurulent discharge and has_material_basis_in Hemophilius Aegypticus.
has db xref: NCI:C35704
has db xref: SNOMEDCT_US_2023_03_01:240066005
has db xref: UMLS_CUI:C1313983
has exact synonym: Contagious opthalmia
has exact synonym: Pink eye
has exact synonym: Pinkeye
has OBO namespace: disease_ontology
id: DOID:11213
in subset: NCIthesaurus

Axiom
annotated source: acute contagious conjunctivitis
annotated property: IAO_0000115
annotated target: A bacterial acute conjunctivitis that is characterized by highly contagious conjunctival hypermia and mucopurulent discharge and has_material_basis_in Hemophilius Aegypticus.
type: ECO_0007645
has db xref: url:https://www.aafp.org/afp/1998/0215/p735.html

acute hemorrhagic conjunctivitis
type: Class
subclass of: DOID 934
IAO_0000115: A viral infectious disease that results in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 (Enterovirus coxsackiepol) or has_material_basis_in Human enterovirus 70 (Enterovirus deconjuncti), which are transmitted by contaminated fomites or transmitted by contact with contaminated hands. The infection has symptom vascular dilation, has symptom eyelid edema, has symptom photophobia, has symptom redness of the eyes, has symptom watering of the eye, has symptom conjunctival congestion, and has symptom superficial punctate epithelial keratitis.
has db xref: ICD9CM:077.4
has db xref: MESH:D003232
has db xref: NCI:C34505
has db xref: SNOMEDCT_US_2023_03_01:186677009
has db xref: UMLS_CUI:C0009765
has exact synonym: Apollo disease
has exact synonym: Epidemic hemorrhagic conjunctivitis
has OBO namespace: disease_ontology
has related synonym: viral conjunctivitis
id: DOID:11227
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: acute hemorrhagic conjunctivitis
annotated property: IAO_0000115
annotated target: A viral infectious disease that results in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 (Enterovirus coxsackiepol) or has_material_basis_in Human enterovirus 70 (Enterovirus deconjuncti), which are transmitted by contaminated fomites or transmitted by contact with contaminated hands. The infection has symptom vascular dilation, has symptom eyelid edema, has symptom photophobia, has symptom redness of the eyes, has symptom watering of the eye, has symptom conjunctival congestion, and has symptom superficial punctate epithelial keratitis.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Acute_hemorrhagic_conjunctivitis

orbital cellulitis
type: Class
subclass of: DOID 65
IAO_0000115: An acute orbital inflammation that is characterized by painful orbital mass and has_symptom eyelid edema, has_symptom erythema, has_symptom chemiosis, has_symptom proptosis, has_symptom blurred vision, has_symptom headache, has_symptom fever and has_symptom double vision.
has db xref: ICD10CM:H05.01
has db xref: ICD9CM:376.01
has db xref: MESH:D054517
has db xref: NCI:C99000
has db xref: SNOMEDCT_US_2023_03_01:194005002
has db xref: UMLS_CUI:C0149507
has OBO namespace: disease_ontology
id: DOID:11234
in subset: NCIthesaurus

Axiom
annotated source: orbital cellulitis
annotated property: IAO_0000115
annotated target: An acute orbital inflammation that is characterized by painful orbital mass and has_symptom eyelid edema, has_symptom erythema, has_symptom chemiosis, has_symptom proptosis, has_symptom blurred vision, has_symptom headache, has_symptom fever and has_symptom double vision.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Tenonitis

appendix cancer
type: Class
subclass of: intestinal cancer
IAO_0000115: A intestinal cancer that is located_in the appendix.
has db xref: ICD10CM:C18.1
has db xref: ICD9CM:153.5
has db xref: MESH:D001063
has db xref: NCI:C9333
has db xref: SNOMEDCT_US_2023_03_01:93679002
has db xref: UMLS_CUI:C0496779
has exact synonym: cancer of the appendix
has exact synonym: malignant neoplasm of appendix vermiformis
has exact synonym: malignant tumor of appendix
has exact synonym: malignant tumor of the appendix
has OBO namespace: disease_ontology
id: DOID:11239
in subset: DO cancer slim
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim

Axiom
annotated source: appendix cancer
annotated property: IAO_0000115
annotated target: A intestinal cancer that is located_in the appendix.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Vermiform_appendix

appendiceal neoplasm
type: Class
subclass of: DOID 4610
has db xref: MESH:D001063
has db xref: NCI:C4434
has db xref: SNOMEDCT_US_2023_03_01:126846004
has db xref: UMLS_CUI:C0003614
has exact synonym: appendix neoplasm
has exact synonym: neoplasm of appendix
has OBO namespace: disease_ontology
id: DOID:11240
in subset: NCIthesaurus

appendix lymphoma
type: Class
subclass of: appendix cancer
has db xref: NCI:C5513
has db xref: SNOMEDCT_US_2023_03_01:1153357001
has db xref: UMLS_CUI:C1332328
has exact synonym: Appendiceal Lymphoma
has OBO namespace: disease_ontology
id: DOID:11241
in subset: NCIthesaurus

plethora of newborn
type: Class
subclass of: DOID 8432
has db xref: ICD10CM:P61.1
has db xref: ICD9CM:776.4
has db xref: NCI:C27069
has db xref: SNOMEDCT_US_2023_03_01:32984002
has db xref: UMLS_CUI:C0272153
has exact synonym: Neonatal polycythemia
has OBO namespace: disease_ontology
id: DOID:11242
in subset: NCIthesaurus

anemia of prematurity
type: Class
subclass of: anemia
IAO_0000115: A neonatal anemia that is characterized by anemia experienced by preterm infants in the early postnatal weeks.
has db xref: ICD10CM:P61.2
has db xref: ICD9CM:776.6
has db xref: NCI:C97167
has db xref: SNOMEDCT_US_2023_03_01:47100003
has db xref: UMLS_CUI:C0158996
has OBO namespace: disease_ontology
id: DOID:11243
in subset: NCIthesaurus

Axiom
annotated source: anemia of prematurity
annotated property: IAO_0000115
annotated target: A neonatal anemia that is characterized by anemia experienced by preterm infants in the early postnatal weeks.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/20463861/
has db xref: url:https://www.nature.com/articles/s41372-021-00992-0

DIC in newborn
type: Class
subclass of: disseminated intravascular coagulation
has db xref: ICD10CM:P60
has db xref: ICD9CM:776.2
has db xref: NCI:C111856
has db xref: SNOMEDCT_US_2023_03_01:34417008
has db xref: UMLS_CUI:C0158992
has exact synonym: Disseminated intravascular coagulation in newborn
has OBO namespace: disease_ontology
id: DOID:11246
in subset: NCIthesaurus

disseminated intravascular coagulation
type: Class
subclass of: thrombophilia
has db xref: ICD10CM:D65
has db xref: ICD9CM:286.6
has db xref: MESH:D004211
has db xref: NCI:C2992
has db xref: SNOMEDCT_US_2023_03_01:67406007
has db xref: UMLS_CUI:C0012739
has exact synonym: DIC
has exact synonym: Defibrination syndrome
has exact synonym: Diffuse or disseminated intravascular coagulation
has OBO namespace: disease_ontology
id: DOID:11247
in subset: NCIthesaurus

Axiom
annotated source: disseminated intravascular coagulation
annotated property: hasExactSynonym
annotated target: DIC
has synonym type: OMO_0003012

vitamin K deficiency bleeding
type: Class
subclass of: nutrition disease
IAO_0000115: A nutritional deficiency disease that is characterized by easy bleeding due to an inability to form blood clots caused by vitamin K deficiency, occurs most commonly in newborns, and has_material_basis_in deficiency of vitamin K secondary to liver prematurity, lack of vitamin K in a breastmilk diet, largely sterile gut, malabsorption, diarrhea, chronic illness, menorrhagia, chronic kidney disease, and some medications.
has db xref: ICD10CM:E56.1
has db xref: ICD9CM:269.0
has db xref: MESH:D014813
has db xref: NCI:C99108
has db xref: SNOMEDCT_US_2023_03_01:52675005
has db xref: UMLS_CUI:C0042880
has exact synonym: deficiency of vitamin K
has exact synonym: vitamin K deficiency
has exact synonym: vitamin K deficiency hemorrhagic disease
has OBO namespace: disease_ontology
id: DOID:11249
in subset: NCIthesaurus

Axiom
annotated source: vitamin K deficiency bleeding
annotated property: IAO_0000115
annotated target: A nutritional deficiency disease that is characterized by easy bleeding due to an inability to form blood clots caused by vitamin K deficiency, occurs most commonly in newborns, and has_material_basis_in deficiency of vitamin K secondary to liver prematurity, lack of vitamin K in a breastmilk diet, largely sterile gut, malabsorption, diarrhea, chronic illness, menorrhagia, chronic kidney disease, and some medications.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007645
has db xref: url:https://en.wikipedia.org/wiki/Haemorrhagic_disease_of_the_newborn
has db xref: url:https://medlineplus.gov/ency/article/007320.htm
has db xref: url:https://www.cdc.gov/ncbddd/vitamink/facts.html
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5592002/

typhus
type: Class
subclass of: bacterial infectious disease
IAO_0000115: 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.
has alternative id: DOID:11255
has alternative id: DOID:12353
has db xref: GARD:7833
has db xref: ICD10CM:A75.0
has db xref: ICD10CM:A75.2
has db xref: ICD10CM:A75.9
has db xref: ICD9CM:080
has db xref: ICD9CM:081.0
has db xref: ICD9CM:081.9
has db xref: MESH:D014437
has db xref: MESH:D014438
has db xref: NCI:C84688
has db xref: NCI:C84689
has db xref: SNOMEDCT_US_2023_03_01:154375001
has db xref: SNOMEDCT_US_2023_03_01:25668000
has db xref: SNOMEDCT_US_2023_03_01:39111003
has db xref: UMLS_CUI:C0041471
has db xref: UMLS_CUI:C0041472
has db xref: UMLS_CUI:C0041473
has exact synonym: Endemic Typhus fever
has exact synonym: Exanthematic Typhus fever
has exact synonym: Flea typhus
has exact synonym: Louse-borne [epidemic] typhus
has exact synonym: Moscow typhus
has exact synonym: Murine [endemic] typhus
has exact synonym: Typhus fever
has exact synonym: endemic flea-borne typhus
has exact synonym: epidemic louse-borne typhus
has OBO namespace: disease_ontology
has related synonym: Classical typhus
has related synonym: Epidemic (louse-borne) typhus
has related synonym: Epidemic louse-borne typhus fever due to Rickettsia prowazekii
has related synonym: European typhus
has related synonym: Exanthematous typhus
has related synonym: Famine fever
has related synonym: Flea-borne rickettsiosis
has related synonym: Flea-borne typhus
has related synonym: Hospital fever
has related synonym: Jail fever
has related synonym: Louse-borne rickettsiosis
has related synonym: Louse-borne typhus
has related synonym: Mexican typhus
has related synonym: Murine typhus
has related synonym: Petechial fever
has related synonym: Prison fever
has related synonym: Rat flea typhus
has related synonym: Ship fever
has related synonym: Shop typhus
has related synonym: Typhus exanthematique
has related synonym: Urban typhus
id: DOID:11256
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus
in subset: gram-negative bacterial infectious disease
in subset: zoonotic infectious disease

Axiom
annotated source: typhus
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Typhus

social phobia
type: Class
subclass of: DOID 591
IAO_0000115: A phobic disorder that involves social anxiety occurring only in specific public or social situations, interactions with others or being evaluated or scrutinized by other people.
has db xref: ICD10CM:F40.1
has db xref: ICD9CM:300.23
has db xref: MESH:D000072861
has db xref: NCI:C34927
has db xref: SNOMEDCT_US_2023_03_01:192395002
has db xref: UMLS_CUI:C0031572
has OBO namespace: disease_ontology
id: DOID:11257
in subset: NCIthesaurus

Axiom
annotated source: social phobia
annotated property: IAO_0000115
annotated target: A phobic disorder that involves social anxiety occurring only in specific public or social situations, interactions with others or being evaluated or scrutinized by other people.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Social_phobia

cat-scratch disease
type: Class
subclass of: bartonellosis
IAO_0000115: A bartonellosis that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain.
has db xref: ICD10CM:A28.1
has db xref: ICD9CM:078.3
has db xref: MESH:D002372
has db xref: NCI:C84620
has db xref: SNOMEDCT_US_2023_03_01:123319006
has db xref: UMLS_CUI:C0007361
has exact synonym: Debre's Syndrome
has exact synonym: Debre-Mollaret Syndrome
has exact synonym: Foshay-Mollaret Cat Scratch Fever
has exact synonym: benign lymphoreticulosis
has exact synonym: cat scratch fever
has OBO namespace: disease_ontology
id: DOID:11258
in subset: DO infectious disease slim
in subset: NCIthesaurus
in subset: gram-negative bacterial infectious disease
in subset: tick-borne infectious disease
in subset: zoonotic infectious disease

Axiom
annotated source: cat-scratch disease
annotated property: IAO_0000115
annotated target: A bartonellosis that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Cat_scratch_disease
has db xref: url:http://kidshealth.org/parent/infections/bacterial_viral/cat_scratch.html#

rabies
type: Class
subclass of: DOID 934
IAO_0000115: A viral infectious disease that results in inflammation located in brain or located in spinal cord, has_material_basis_in viruses in the genus Lyssavirus, which are transmitted by bite of an infected animal, or transmitted by contact of mucous membranes with saliva of an infected animal. The infection has symptom fever, has symptom headache, has symptom prickling or itching sensation at the site of bite, has symptom anxiety, has symptom confusion, has symptom agitation, has symptom delirium, has symptom difficulty swallowing, has symptom hydrophobia, and has symptom paralysis. Most human cases of rabies are caused by the Rabies virus (Lyssavirus rabies) transmitted from dogs.
has db xref: GARD:7516
has db xref: ICD10CM:A82
has db xref: ICD9CM:071
has db xref: MESH:D011818
has db xref: NCI:C28182
has db xref: SNOMEDCT_US_2023_03_01:14168008
has db xref: UMLS_CUI:C0034494
has exact synonym: Lyssa
has OBO namespace: disease_ontology
id: DOID:11260
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus
in subset: zoonotic infectious disease

Axiom
annotated source: rabies
annotated property: IAO_0000115
annotated target: A viral infectious disease that results in inflammation located in brain or located in spinal cord, has_material_basis_in viruses in the genus Lyssavirus, which are transmitted by bite of an infected animal, or transmitted by contact of mucous membranes with saliva of an infected animal. The infection has symptom fever, has symptom headache, has symptom prickling or itching sensation at the site of bite, has symptom anxiety, has symptom confusion, has symptom agitation, has symptom delirium, has symptom difficulty swallowing, has symptom hydrophobia, and has symptom paralysis. Most human cases of rabies are caused by the Rabies virus (Lyssavirus rabies) transmitted from dogs.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Rabies
has db xref: url:https://www.cdc.gov/yellow-book/hcp/travel-associated-infections-diseases/rabies.html

ornithosis
type: Class
subclass of: bacterial infectious disease
IAO_0000115: A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Chlamydia psittaci, which is transmitted_by inhaling aerosolized dried droppings or transmitted_by contact with infected birds. The infection has_symptom fever, has_symptom headache, has_symptom rash, has_symptom chills, and has_symptom pneumonia.
has db xref: ICD10CM:A70
has db xref: ICD9CM:073
has db xref: MESH:D009956
has db xref: NCI:C34873
has db xref: SNOMEDCT_US_2023_03_01:154369005
has db xref: UMLS_CUI:C0029291
has exact synonym: psittacosis
has OBO namespace: disease_ontology
id: DOID:11262
in subset: DO infectious disease slim
in subset: NCIthesaurus
in subset: gram-negative bacterial infectious disease
in subset: zoonotic infectious disease

Axiom
annotated source: ornithosis
annotated property: IAO_0000115
annotated target: A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Chlamydia psittaci, which is transmitted_by inhaling aerosolized dried droppings or transmitted_by contact with infected birds. The infection has_symptom fever, has_symptom headache, has_symptom rash, has_symptom chills, and has_symptom pneumonia.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Psittacosis

Hantavirus hemorrhagic fever with renal syndrome
type: Class
subclass of: DOID 934
IAO_0000115: A viral infectious disease that is a hemorrhagic fever, located in kidney, has_material_basis_in Orthohantavirus dobravaense, Orthohantavirus hantanense, Orthohantavirus puumalaense, or Orthohantavirus seoulense, which are carried and transmitted by rodents. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom proteinuria, and has symptom renal failure.
has db xref: GARD:18689
has db xref: ICD10CM:A98.5
has db xref: ICD9CM:078.6
has db xref: MESH:D006480
has db xref: NCI:C84753
has db xref: ORDO:340
has db xref: SNOMEDCT_US_2025_05_01:716864001
has db xref: UMLS_CUI:C0019101
has exact synonym: HFRS
has exact synonym: Hemorrhagic fever, Russian
has exact synonym: Hemorrhagic nephrosonephritis
has exact synonym: Puumala virus nephropathy
has exact synonym: hemorrhagic fever renal syndrome
has OBO namespace: disease_ontology
id: DOID:11266
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus
in subset: zoonotic infectious disease
related match: MESH:C535630
related match: UMLS_CUI:C2930957

Axiom
annotated source: Hantavirus hemorrhagic fever with renal syndrome
annotated property: IAO_0000115
annotated target: A viral infectious disease that is a hemorrhagic fever, located in kidney, has_material_basis_in Orthohantavirus dobravaense, Orthohantavirus hantanense, Orthohantavirus puumalaense, or Orthohantavirus seoulense, which are carried and transmitted by rodents. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom proteinuria, and has symptom renal failure.
type: ECO_0007637
type: ECO_0007645
has db xref: url:https://en.wikipedia.org/wiki/Hantavirus_hemorrhagic_fever_with_renal_syndrome
has db xref: url:https://www.cdc.gov/hantavirus/about/

Axiom
annotated source: Hantavirus hemorrhagic fever with renal syndrome
annotated property: hasExactSynonym
annotated target: HFRS
has synonym type: OMO_0003012

Plummer's disease
type: Class
subclass of: DOID 7998
has db xref: ICD10CM:E05.2
has db xref: ICD9CM:242.3
has db xref: NCI:C35171
has db xref: SNOMEDCT_US_2023_03_01:57777000
has db xref: UMLS_CUI:C0342127
has exact synonym: Plummer disease
has exact synonym: toxic nodular goiter
has OBO namespace: disease_ontology
id: DOID:11277
in subset: NCIthesaurus

pituitary apoplexy
type: Class
subclass of: pituitary infarct
has db xref: MESH:D010899
has db xref: NCI:C26853
has db xref: SNOMEDCT_US_2023_03_01:237701005
has db xref: UMLS_CUI:C0032001
has OBO namespace: disease_ontology
id: DOID:1129
in subset: NCIthesaurus

arteriovenous malformation
type: Class
subclass of: hemangioma
IAO_0000115: A hemangioma that is characterized by a configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system.
has db xref: ICD10CM:I77.0
has db xref: ICDO:9123/0
has db xref: NCI:C2882
has db xref: SNOMEDCT_US_2023_03_01:403966009
has db xref: UMLS_CUI:C0334533
has exact synonym: Arteriovenous hemangioma
has exact synonym: Cirsoid aneurysm
has exact synonym: Racemose Angioma
has exact synonym: Racemose aneurysm
has exact synonym: Racemose hemangioma
has OBO namespace: disease_ontology
id: DOID:11294
in subset: NCIthesaurus

Axiom
annotated source: arteriovenous malformation
annotated property: IAO_0000115
annotated target: A hemangioma that is characterized by a configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Arteriovenous_malformation

pituitary infarct
type: Class
subclass of: necrosis of pituitary
has db xref: NCI:C27117
has db xref: SNOMEDCT_US_2023_03_01:95830009
has db xref: UMLS_CUI:C0342405
has exact synonym: Pituitary infarction
has OBO namespace: disease_ontology
id: DOID:1130
in subset: NCIthesaurus

cercarial dermatitis
type: Class
subclass of: DOID 883
IAO_0000115: A schistosomiasis that is a short-term, cutaneous inflammatory response associated with penetration of the skin by cercariae of bird schistosome, Austrobilharzia variglandis. The disease has symptom skin reddening, has symptom skin itching, in the water or immediately after emerging and has symptom itchy, raised papules, occur within hours of infection.
has db xref: GARD:9747
has db xref: ICD10CM:B65.3
has db xref: ICD9CM:120.3
has db xref: NCI:C34457
has db xref: SNOMEDCT_US_2023_03_01:187115002
has db xref: UMLS_CUI:C0546996
has exact synonym: Cutaneous schistosomiasis
has exact synonym: Sea bather's eruption
has OBO namespace: disease_ontology
id: DOID:11302
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: cercarial dermatitis
annotated property: IAO_0000115
annotated target: A schistosomiasis that is a short-term, cutaneous inflammatory response associated with penetration of the skin by cercariae of bird schistosome, Austrobilharzia variglandis. The disease has symptom skin reddening, has symptom skin itching, in the water or immediately after emerging and has symptom itchy, raised papules, occur within hours of infection.
type: ECO_0007637
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Swimmer%27s_itch
has db xref: url:https://www.cdc.gov/parasites/swimmersitch/index.html

Mobitz type II atrioventricular block
type: Class
subclass of: atrioventricular block
has db xref: ICD9CM:426.12
has db xref: NCI:C62018
has db xref: SNOMEDCT_US_2023_03_01:28189009
has db xref: UMLS_CUI:C0155700
has exact synonym: Mobitz (type) II atrioventricular block
has exact synonym: Mobitz II atrioventricular block
has OBO namespace: disease_ontology
id: DOID:11312
in subset: NCIthesaurus

schizophreniform disorder
type: Class
subclass of: cognitive disorder
IAO_0000115: A psychotic disorder that involves schizophrenia symptoms over time period of one month.
has db xref: ICD10CM:F20.81
has db xref: ICD9CM:295.4
has db xref: MESH:D011618
has db xref: NCI:C94376
has db xref: SNOMEDCT_US_2023_03_01:88975006
has db xref: UMLS_CUI:C0036358
has OBO namespace: disease_ontology
id: DOID:11328
in subset: NCIthesaurus

Axiom
annotated source: schizophreniform disorder
annotated property: IAO_0000115
annotated target: A psychotic disorder that involves schizophrenia symptoms over time period of one month.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Schizophreniform_disorder

ainhum
type: Class
subclass of: DOID 65
IAO_0000115: A connective tissue disease that results in increasing fibrous constriction and ultimately in spontaneous amputation of the toes and especially the little toes. A painful constriction of the base of the fifth toe frequently followed by bilateral spontaneous amputation (autoamputation) a few years later.
has db xref: GARD:9512
has db xref: ICD10CM:L94.6
has db xref: ICD9CM:136.0
has db xref: MESH:D000387
has db xref: MIM:103400
has db xref: NCI:C84544
has db xref: SNOMEDCT_US_2023_03_01:51404004
has db xref: UMLS_CUI:C0001860
has exact synonym: Dactylolysis spontanea
has OBO namespace: disease_ontology
id: DOID:11329
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: ainhum
annotated property: IAO_0000115
annotated target: A connective tissue disease that results in increasing fibrous constriction and ultimately in spontaneous amputation of the toes and especially the little toes. A painful constriction of the base of the fifth toe frequently followed by bilateral spontaneous amputation (autoamputation) a few years later.
type: ECO_0007638
type: ECO_0007643
has db xref: url:http://en.wikipedia.org/wiki/Ainhum
has db xref: url:https://www.merriam-webster.com/medical/ainhum

sarcoidosis
type: Class
subclass of: disease
IAO_0000115: A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.
has db xref: GARD:7607
has db xref: ICD10CM:D86
has db xref: ICD9CM:135
has db xref: MESH:D012507
has db xref: NCI:C34995
has db xref: ORDO:797
has db xref: SNOMEDCT_US_2023_03_01:154425004
has db xref: UMLS_CUI:C0036202
has exact synonym: Boeck sarcoid
has exact synonym: lymphogranulomatosis
has OBO namespace: disease_ontology
id: DOID:11335
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: sarcoidosis
annotated property: IAO_0000115
annotated target: A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Sarcoidosis
has db xref: url:http://ghr.nlm.nih.gov/glossary=sarcoidosis
has db xref: url:http://www.mayoclinic.org/diseases-conditions/sarcoidosis/basics/definition/con-20022569?_ga=1.188430891.2017809229.1415219956

tetanus
type: Class
subclass of: bacterial infectious disease
IAO_0000115: A primary bacterial infectious disease that results in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli.
has db xref: GARD:5144
has db xref: ICD10CM:A35
has db xref: ICD9CM:037
has db xref: MESH:D013742
has db xref: NCI:C85185
has db xref: SNOMEDCT_US_2023_03_01:154312006
has db xref: UMLS_CUI:C0039614
has exact synonym: Infection due to Clostridium tetani
has exact synonym: clostridial tetanus
has OBO namespace: disease_ontology
id: DOID:11338
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus
in subset: gram-positive bacterial infectious disease

Axiom
annotated source: tetanus
annotated property: IAO_0000115
annotated target: A primary bacterial infectious disease that results in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Tetanus

pneumocystosis
type: Class
subclass of: fungal infectious disease
IAO_0000115: An opportunistic mycosis that is located in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has symptom nonproductive cough, has symptom shortness of breath, and has symptom fever.
has db xref: GARD:4386
has db xref: ICD10CM:B59
has db xref: ICD9CM:136.3
has db xref: MESH:D011020
has db xref: NCI:C3334
has db xref: SNOMEDCT_US_2023_03_01:57541005
has db xref: UMLS_CUI:C1535939
has exact synonym: Pneumocystis carinii pneumonia
has exact synonym: Pneumocystis jirovecii pneumonia
has exact synonym: Pneumocystis pneumonia
has exact synonym: Pneumocystosis pneumonia
has exact synonym: pulmonary pneumocystosis
has OBO namespace: disease_ontology
id: DOID:11339
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: pneumocystosis
annotated property: IAO_0000115
annotated target: An opportunistic mycosis that is located in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has symptom nonproductive cough, has symptom shortness of breath, and has symptom fever.
type: ECO_0007640
type: ECO_0007643
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/000671.htm
has db xref: url:https://www.merriam-webster.com/dictionary/Pneumocystis%20carinii%20pneumonia#medicalDictionary

gingival recession
type: Class
subclass of: gingival disease
has alternative id: DOID:1133
has alternative id: DOID:13280
has alternative id: DOID:13901
has alternative id: DOID:2405
has db xref: ICD10CM:K06.0
has db xref: ICD10CM:K06.01
has db xref: ICD9CM:523.2
has db xref: ICD9CM:523.24
has db xref: MESH:D005889
has db xref: NCI:C82068
has db xref: SNOMEDCT_US_2023_03_01:155645006
has db xref: SNOMEDCT_US_2023_03_01:59898000
has db xref: UMLS_CUI:C0017572
has db xref: UMLS_CUI:C0266916
has exact synonym: Gingival recession, localized
has exact synonym: localized gingival recession
has exact synonym: minimal gingival recession
has exact synonym: moderate gingival recession
has exact synonym: severe gingival recession
has OBO namespace: disease_ontology
id: DOID:1134
in subset: NCIthesaurus

scleral disease
type: Class
subclass of: DOID 5614
IAO_0000115: An eye disease that affects the sclera, which is the white fibrous outer layer of the eyeball.
has db xref: ICD10CM:H15
has db xref: MESH:D015422
has db xref: NCI:C79717
has db xref: SNOMEDCT_US_2023_03_01:33064008
has db xref: UMLS_CUI:C0036412
has OBO namespace: disease_ontology
id: DOID:11343
in subset: NCIthesaurus

Axiom
annotated source: scleral disease
annotated property: IAO_0000115
annotated target: An eye disease that affects the sclera, which is the white fibrous outer layer of the eyeball.
type: ECO_0007636
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C79717

bladder diverticulum
type: Class
subclass of: bladder disease
IAO_0000115: A bladder disease characterized by protrusion of the bladder urothelium and mucosa via muscle fibers of the bladder wall which results in one or more thin-walled structures connected to the bladder lumen.
has db xref: ICD10CM:N32.3
has db xref: ICD9CM:596.3
has db xref: MESH:C562406
has db xref: MIM:109820
has db xref: NCI:C160155
has db xref: SNOMEDCT_US_2023_03_01:268335001
has db xref: UMLS_CUI:C0156273
has exact synonym: Diverticulum - bladder
has exact synonym: Diverticulum of bladder
has OBO namespace: disease_ontology
id: DOID:11353
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: bladder diverticulum
annotated property: IAO_0000115
annotated target: A bladder disease characterized by protrusion of the bladder urothelium and mucosa via muscle fibers of the bladder wall which results in one or more thin-walled structures connected to the bladder lumen.
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK580557/
has db xref: url:https://www.urologyhealth.org/urology-a-z/b/bladder-diverticulum

lens subluxation
type: Class
subclass of: lens disease
has db xref: ICD10CM:H27.11
has db xref: ICD9CM:379.32
has db xref: MESH:D007906
has db xref: NCI:C34772
has db xref: SNOMEDCT_US_2023_03_01:155203002
has db xref: UMLS_CUI:C0023316
has exact synonym: Subluxation of lens
has OBO namespace: disease_ontology
id: DOID:11364
in subset: NCIthesaurus

congenital aphakia
type: Class
subclass of: lens disease
has db xref: ICD10CM:Q12.3
has db xref: ICD9CM:743.35
has db xref: MIM:610256
has db xref: NCI:C35172
has db xref: SNOMEDCT_US_2023_03_01:35387008
has db xref: UMLS_CUI:C0152422
has exact synonym: APHAKIA, CONGENITAL PRIMARY
has exact synonym: Congenital absence of lens
has OBO namespace: disease_ontology
id: DOID:11367
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

megacolon
type: Class
subclass of: DOID 5295
IAO_0000115: A colonic disease that is characterized by an abnormal dilation of the colon.
has alternative id: DOID:1771
has db xref: ICD10CM:K59.39
has db xref: MESH:D008531
has db xref: NCI:C34810
has db xref: SNOMEDCT_US_2023_03_01:33995003
has db xref: UMLS_CUI:C0025160
has exact synonym: Dilatation of colon
has OBO namespace: disease_ontology
id: DOID:11372
in subset: NCIthesaurus

Axiom
annotated source: megacolon
annotated property: IAO_0000115
annotated target: A colonic disease that is characterized by an abnormal dilation of the colon.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Megacolon

gnathomiasis
type: Class
subclass of: DOID 883
IAO_0000115: A parasitic helminthiasis infectious disease that involves parasitic infection due to migrating immature worms of Gnathostoma spinigerum or Gnathostoma hispidum, which occurs by eating undercooked fish or poultry containing third-stage larvae, or by drinking water containing infective second-stage larvae in Cyclops. Migration in the subcutaneous tissues causes intermittent, migratory, painful, pruritic swellings (cutaneous larva migrans). Migration to other tissues (visceral larva migrans), result in cough, hematuria, and ocular involvement, with the most serious manifestations eosinophilic meningitis with myeloencephalitis.
has db xref: GARD:9286
has db xref: ICD10CM:B83.1
has db xref: ICD9CM:128.1
has db xref: MESH:D058429
has db xref: NCI:C128395
has db xref: SNOMEDCT_US_2023_03_01:44086001
has db xref: UMLS_CUI:C0018013
has exact synonym: Gnathostomiasis
has exact synonym: Infectious Disease by Gnathostoma
has OBO namespace: disease_ontology
id: DOID:11379
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: gnathomiasis
annotated property: IAO_0000115
annotated target: A parasitic helminthiasis infectious disease that involves parasitic infection due to migrating immature worms of Gnathostoma spinigerum or Gnathostoma hispidum, which occurs by eating undercooked fish or poultry containing third-stage larvae, or by drinking water containing infective second-stage larvae in Cyclops. Migration in the subcutaneous tissues causes intermittent, migratory, painful, pruritic swellings (cutaneous larva migrans). Migration to other tissues (visceral larva migrans), result in cough, hematuria, and ocular involvement, with the most serious manifestations eosinophilic meningitis with myeloencephalitis.
type: ECO_0007637
has db xref: url:http://www.dpd.cdc.gov/dpdx/HTML/Gnathostomiasis.htm

spinal meningioma
type: Class
subclass of: spinal canal and spinal cord meningioma
has db xref: GARD:10264
has db xref: MESH:D008579
has db xref: NCI:C6935
has db xref: SNOMEDCT_US_2023_03_01:189167009
has db xref: UMLS_CUI:C0347515
has exact synonym: Spinal Cord meningioma
has OBO namespace: disease_ontology
id: DOID:1138
in subset: DO rare slim
in subset: NCIthesaurus

cryptorchidism
type: Class
subclass of: gonadal disease
has db xref: ICD10CM:Q53.9
has db xref: ICD9CM:752.51
has db xref: MESH:D003456
has db xref: MIM:219050
has db xref: NCI:C12326
has db xref: SNOMEDCT_US_2023_03_01:204879009
has db xref: UMLS_CUI:C0010417
has exact synonym: Cryptorchism
has exact synonym: Undescended testicle
has exact synonym: Undescended testis
has exact synonym: undescended testicles
has OBO namespace: disease_ontology
id: DOID:11383
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

expressive language disorder
type: Class
subclass of: DOID 93
IAO_0000115: A language disorder that involves difficulties with verbal and written expression characterized by an ability to use expressive spoken language that is markedly below the appropriate level for the mental age, but with a language comprehension that is within normal limits.
has db xref: ICD10CM:F80.1
has db xref: ICD9CM:315.31
has db xref: NCI:C92562
has db xref: SNOMEDCT_US_2023_03_01:80360005
has db xref: UMLS_CUI:C0236826
has exact synonym: Developmental expressive language disorder
has OBO namespace: disease_ontology
id: DOID:11385
in subset: NCIthesaurus

Axiom
annotated source: expressive language disorder
annotated property: IAO_0000115
annotated target: A language disorder that involves difficulties with verbal and written expression characterized by an ability to use expressive spoken language that is markedly below the appropriate level for the mental age, but with a language comprehension that is within normal limits.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Expressive_language_disorder

adult respiratory distress syndrome
type: Class
subclass of: respiratory failure
IAO_0000115: A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.
has db xref: GARD:5698
has db xref: ICD10CM:J80
has db xref: MESH:D012128
has db xref: NCI:C3353
has db xref: SNOMEDCT_US_2023_03_01:155627006
has db xref: UMLS_CUI:C0035222
has exact synonym: ARDS
has exact synonym: Non-cardiogenic pulmonary edema
has exact synonym: Shock lung
has exact synonym: acute respiratory distress syndrome
has exact synonym: adult RDS
has OBO namespace: disease_ontology
id: DOID:11394
in subset: DO rare slim
in subset: NCIthesaurus
comment: PRISM.

Axiom
annotated source: adult respiratory distress syndrome
annotated property: IAO_0000115
annotated target: A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.
type: ECO_0007643
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5392788/

Axiom
annotated source: adult respiratory distress syndrome
annotated property: hasExactSynonym
annotated target: ARDS
has synonym type: OMO_0003012

pulmonary edema
type: Class
subclass of: respiratory failure
IAO_0000115: A respiratory failure that is characterized by the accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure.
has alternative id: DOID:13472
has db xref: ICD10CM:J81
has db xref: MESH:D011654
has db xref: NCI:C26868
has db xref: SNOMEDCT_US_2023_03_01:19242006
has db xref: UMLS_CUI:C0034063
has OBO namespace: disease_ontology
id: DOID:11396
in subset: NCIthesaurus

Axiom
annotated source: pulmonary edema
annotated property: IAO_0000115
annotated target: A respiratory failure that is characterized by the accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/11357010/

heart disease
type: Class
subclass of: cardiovascular system disease
IAO_0000115: A cardiovascular system disease that involves the heart.
has db xref: ICD10CM:I51.9
has db xref: ICD9CM:429.9
has db xref: MESH:D006331
has db xref: NCI:C3079
has db xref: SNOMEDCT_US_2023_03_01:194707003
has db xref: UMLS_CUI:C0018799
has OBO namespace: disease_ontology
id: DOID:114
in subset: DO FlyBase slim
in subset: DO RAD slim
in subset: NCIthesaurus

Axiom
annotated source: heart disease
annotated property: IAO_0000115
annotated target: A cardiovascular system disease that involves the heart.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Heart_disease

spinal canal and spinal cord meningioma
type: Class
subclass of: DOID 5612
has db xref: NCI:C5134
has db xref: UMLS_CUI:C1334264
has OBO namespace: disease_ontology
id: DOID:1140
in subset: NCIthesaurus

pyelonephritis
type: Class
subclass of: pyelitis
has db xref: ICD10CM:N16
has db xref: ICD9CM:590.80
has db xref: MESH:D011704
has db xref: NCI:C34965
has db xref: SNOMEDCT_US_2023_03_01:45816000
has db xref: UMLS_CUI:C0034186
has OBO namespace: disease_ontology
id: DOID:11400
in subset: NCIthesaurus

xanthogranulomatous pyelonephritis
type: Class
subclass of: chronic pyelonephritis
has db xref: MESH:D011705
has db xref: NCI:C123038
has db xref: SNOMEDCT_US_2023_03_01:197777006
has db xref: UMLS_CUI:C0034188
has OBO namespace: disease_ontology
id: DOID:11401
in subset: NCIthesaurus

choroiditis
type: Class
subclass of: choroid disease
has db xref: GARD:6062
has db xref: ICD10CM:H30.9
has db xref: MESH:D002833
has db xref: NCI:C35111
has db xref: SNOMEDCT_US_2023_03_01:16553002
has db xref: UMLS_CUI:C0008526
has OBO namespace: disease_ontology
id: DOID:11406
in subset: DO rare slim
in subset: NCIthesaurus

fallopian tube endometriosis
type: Class
subclass of: endometriosis
IAO_0000115: A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the fallopian tube.
has db xref: ICD10CM:N80.2
has db xref: ICD9CM:617.2
has db xref: NCI:C26763
has db xref: SNOMEDCT_US_2023_03_01:22611009
has db xref: UMLS_CUI:C0014177
has exact synonym: Endometriosis of fallopian tube
has OBO namespace: disease_ontology
id: DOID:11424
in subset: NCIthesaurus

Axiom
annotated source: fallopian tube endometriosis
annotated property: IAO_0000115
annotated target: A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the fallopian tube.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Endometriosis

endosalpingiosis
type: Class
subclass of: endometriosis
IAO_0000115: A female reproductive system disease characterized by the growth of fallopian tube-like epithelium outside the fallopian tube.
has db xref: NCI:C179646
has db xref: SNOMEDCT_US_2023_03_01:55850004
has db xref: UMLS_CUI:C0269106
has OBO namespace: disease_ontology
id: DOID:11427
in subset: NCIthesaurus

Axiom
annotated source: endosalpingiosis
annotated property: IAO_0000115
annotated target: A female reproductive system disease characterized by the growth of fallopian tube-like epithelium outside the fallopian tube.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Endosalpingiosis

exotropia
type: Class
subclass of: DOID 5656
subclass of: DOID 9835
has db xref: ICD10CM:H50.1
has db xref: ICD9CM:378.1
has db xref: MESH:D005099
has db xref: NCI:C34601
has db xref: SNOMEDCT_US_2023_03_01:155194007
has db xref: UMLS_CUI:C0015310
has exact synonym: Divergent Strabismus
has exact synonym: Divergent concomitant strabismus
has OBO namespace: disease_ontology
id: DOID:1143
in subset: NCIthesaurus

endometriosis of ovary
type: Class
subclass of: endometriosis
IAO_0000115: A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the ovary.
has alternative id: DOID:11426
has db xref: ICD10CM:N80.1
has db xref: ICD9CM:617.1
has db xref: NCI:C27628
has db xref: SNOMEDCT_US_2023_03_01:198250000
has db xref: UMLS_CUI:C0156344
has exact synonym: ovarian endometriosis
has OBO namespace: disease_ontology
id: DOID:11432
in subset: NCIthesaurus

Axiom
annotated source: endometriosis of ovary
annotated property: IAO_0000115
annotated target: A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the ovary.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Endometriosis

pseudotumor cerebri
type: Class
subclass of: DOID 9428
has db xref: GARD:4561
has db xref: ICD10CM:G93.2
has db xref: ICD9CM:348.2
has db xref: MESH:D011559
has db xref: MIM:243200
has db xref: NCI:C85035
has db xref: SNOMEDCT_US_2023_03_01:68267002
has db xref: UMLS_CUI:C0033845
has exact synonym: benign intracranial hypertension
has exact synonym: idiopathic intracranial hypertension
has OBO namespace: disease_ontology
id: DOID:11459
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

subglottis cancer
type: Class
subclass of: larynx cancer
has db xref: ICD10CM:C32.2
has db xref: ICD9CM:161.2
has db xref: NCI:C3546
has db xref: SNOMEDCT_US_2023_03_01:94075002
has db xref: UMLS_CUI:C0153485
has exact synonym: Ca larynx - subglottis
has exact synonym: malignant Subglottic tumor
has exact synonym: malignant tumor of subglottis
has OBO namespace: disease_ontology
id: DOID:11472
in subset: NCIthesaurus

osteoporosis
type: Class
subclass of: DOID 65
IAO_0000115: A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength.
has db xref: EFO:0003882
has db xref: ICD10CM:M81.0
has db xref: ICD9CM:733.0
has db xref: MESH:D010024
has db xref: MIM:166710
has db xref: NCI:C3298
has db xref: SNOMEDCT_US_2023_03_01:156825006
has db xref: UMLS_CUI:C0029456
has OBO namespace: disease_ontology
id: DOID:11476
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: osteoporosis
annotated property: IAO_0000115
annotated target: A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007640
has db xref: url:http://en.wikipedia.org/wiki/Osteoporosis
has db xref: url:http://www.mayoclinic.com/health/osteoporosis/DS00128
has db xref: url:http://www.niams.nih.gov/Health_Info/Bone/default.asp
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/000360.htm

polydactyly
type: Class
subclass of: disease
IAO_0000115: A physical disorder that is characterized by the presence of more than five fingers per hand or five toes per foot.
has alternative id: DOID:14779
has db xref: GARD:4410
has db xref: ICD10CM:Q69
has db xref: ICD9CM:755.0
has db xref: MESH:C562429
has db xref: MESH:D017689
has db xref: MIM:174200
has db xref: MIM:603596
has db xref: NCI:C87110
has db xref: SNOMEDCT_US_2023_03_01:205119005
has db xref: UMLS_CUI:C0152427
has db xref: UMLS_CUI:C0220697
has exact synonym: postaxial polydactyly
has OBO namespace: disease_ontology
has related synonym: Supernumerary digit
id: DOID:1148
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: polydactyly
annotated property: IAO_0000115
annotated target: A physical disorder that is characterized by the presence of more than five fingers per hand or five toes per foot.
has db xref: url:https://en.wikipedia.org/wiki/Polydactyly

constrictive pericarditis
type: Class
subclass of: pericarditis
has db xref: ICD9CM:423.2
has db xref: MESH:D010494
has db xref: NCI:C78246
has db xref: SNOMEDCT_US_2023_03_01:155340008
has db xref: UMLS_CUI:C0031048
has OBO namespace: disease_ontology
id: DOID:11481
in subset: NCIthesaurus

hemopericardium
type: Class
subclass of: pericardial effusion
IAO_0000115: A pericardial effusion that results from blood in the pericardial sac.
has db xref: ICD9CM:423.0
has db xref: MESH:D010490
has db xref: NCI:C111644
has db xref: SNOMEDCT_US_2023_03_01:155339006
has db xref: UMLS_CUI:C0019064
has exact synonym: Haemopericardium
has OBO namespace: disease_ontology
id: DOID:11482
in subset: NCIthesaurus

Axiom
annotated source: hemopericardium
annotated property: IAO_0000115
annotated target: A pericardial effusion that results from blood in the pericardial sac.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Hemopericardium

Horner's syndrome
type: Class
subclass of: autonomic neuropathy
IAO_0000115: An autonomic neuropathy that is characterized by the classic triad of unilateral ptosis, unilateral miosis with anisocoria, and ipsilateral facial anhidrosis, resulting from unilateral paralysis of the cervical sympathetics.
has db xref: GARD:6670
has db xref: ICD10CM:G90.2
has db xref: MESH:D006732
has db xref: MIM:143000
has db xref: NCI:C28155
has db xref: SNOMEDCT_US_2023_03_01:192922002
has db xref: UMLS_CUI:C0019937
has exact synonym: Bernard Horner syndrome
has exact synonym: Horner syndrome
has exact synonym: cervical sympathetic paralysis
has OBO namespace: disease_ontology
id: DOID:11486
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Horner's syndrome
annotated property: IAO_0000115
annotated target: An autonomic neuropathy that is characterized by the classic triad of unilateral ptosis, unilateral miosis with anisocoria, and ipsilateral facial anhidrosis, resulting from unilateral paralysis of the cervical sympathetics.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/14610154/

cardiac tamponade
type: Class
subclass of: pericardial effusion
IAO_0000115: A pericardial effusion in which fluid accumulates in the pericardium (the sac in which the heart is enclosed) and the pericardial spaces fills up faster than the pericardial sac can stretch.
has db xref: ICD10CM:I31.4
has db xref: ICD9CM:423.3
has db xref: MESH:D002305
has db xref: NCI:C50481
has db xref: SNOMEDCT_US_2023_03_01:266295005
has db xref: UMLS_CUI:C0007177
has exact synonym: Rose's tamponade
has exact synonym: pericardial tamponade
has OBO namespace: disease_ontology
id: DOID:115
in subset: NCIthesaurus

Axiom
annotated source: cardiac tamponade
annotated property: IAO_0000115
annotated target: A pericardial effusion in which fluid accumulates in the pericardium (the sac in which the heart is enclosed) and the pericardial spaces fills up faster than the pericardial sac can stretch.
type: ECO_0007638
type: ECO_0007640
has db xref: url:http://en.wikipedia.org/wiki/Cardiac_tamponade
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/000194.htm

mitral valve insufficiency
type: Class
subclass of: DOID 61
has alternative id: DOID:11737
has alternative id: DOID:13947
has db xref: ICD10CM:Q23.3
has db xref: ICD9CM:396.3
has db xref: ICD9CM:746.6
has db xref: MESH:D008944
has db xref: NCI:C50888
has db xref: SNOMEDCT_US_2023_03_01:194736003
has db xref: SNOMEDCT_US_2023_03_01:194977007
has db xref: SNOMEDCT_US_2023_03_01:29928006
has db xref: UMLS_CUI:C0026266
has db xref: UMLS_CUI:C0158619
has db xref: UMLS_CUI:C0264774
has exact synonym: Congenital insufficiency of mitral valve
has exact synonym: Mitral valve incompetence
has exact synonym: congenital mitral insufficiency
has exact synonym: congenital mitral regurgitation
has exact synonym: mitral regurgitation
has OBO namespace: disease_ontology
id: DOID:11502
in subset: NCIthesaurus

diabetic autonomic neuropathy
type: Class
subclass of: autonomic neuropathy
has db xref: MESH:D003929
has db xref: NCI:C27068
has db xref: SNOMEDCT_US_2023_03_01:50620007
has db xref: UMLS_CUI:C0271686
has OBO namespace: disease_ontology
id: DOID:11503
in subset: NCIthesaurus

autonomic neuropathy
type: Class
subclass of: DOID 574
has db xref: NCI:C27033
has db xref: SNOMEDCT_US_2023_03_01:277879009
has db xref: UMLS_CUI:C0259749
has OBO namespace: disease_ontology
id: DOID:11504
in subset: NCIthesaurus

rumination disorder
type: Class
subclass of: DOID 8670
IAO_0000115: An eating disorder that is characterized by effortless regurgitation of most meals following consumption.
has db xref: GARD:7594
has db xref: ICD9CM:307.53
has db xref: MESH:D000079562
has db xref: NCI:C92567
has db xref: SNOMEDCT_US_2023_03_01:37941009
has db xref: UMLS_CUI:C0154575
has exact synonym: Psychogenic rumination
has OBO namespace: disease_ontology
id: DOID:11507
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: rumination disorder
annotated property: IAO_0000115
annotated target: An eating disorder that is characterized by effortless regurgitation of most meals following consumption.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Rumination_syndrome

hypertensive heart disease
type: Class
subclass of: heart disease
IAO_0000115: A heart disease that is caused by high blood pressure.
has db xref: ICD10CM:I11
has db xref: ICD9CM:402
has db xref: NCI:C157879
has db xref: SNOMEDCT_US_2023_03_01:155297007
has db xref: UMLS_CUI:C0152105
has OBO namespace: disease_ontology
id: DOID:11516
in subset: NCIthesaurus

Axiom
annotated source: hypertensive heart disease
annotated property: IAO_0000115
annotated target: A heart disease that is caused by high blood pressure.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Heart_disease
has db xref: url:http://en.wikipedia.org/wiki/Hypertensive_heart_disease

laryngostenosis
type: Class
subclass of: DOID 786
has db xref: ICD10CM:J38.6
has db xref: ICD9CM:478.74
has db xref: MESH:D007829
has db xref: NCI:C79608
has db xref: SNOMEDCT_US_2023_03_01:195864007
has db xref: UMLS_CUI:C0023075
has exact synonym: Stenosis of larynx
has OBO namespace: disease_ontology
id: DOID:11527
in subset: NCIthesaurus

corneal abscess
type: Class
subclass of: DOID 4677
has db xref: ICD10CM:H16.31
has db xref: ICD9CM:370.55
has db xref: NCI:C26969
has db xref: SNOMEDCT_US_2023_03_01:64366002
has db xref: UMLS_CUI:C0155091
has OBO namespace: disease_ontology
id: DOID:11543
in subset: NCIthesaurus

Adie syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon.
has db xref: GARD:5749
has db xref: MESH:D000270
has db xref: MIM:103100
has db xref: NCI:C34357
has db xref: SNOMEDCT_US_2023_03_01:123051004
has db xref: UMLS_CUI:C0001519
has exact synonym: Adie's pupil or syndrome
has exact synonym: Adie's pupil syndrome
has exact synonym: Adie's syndrome
has exact synonym: Holmes-Adie syndrome
has OBO namespace: disease_ontology
id: DOID:11549
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Adie syndrome
annotated property: IAO_0000115
annotated target: A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon.
type: ECO_0007638
type: ECO_0007643
has db xref: url:http://en.wikipedia.org/wiki/Adie_syndrome
has db xref: url:http://www.ninds.nih.gov/disorders/holmes_adie/holmes_adie.htm
has db xref: url:https://www.merriam-webster.com/medical/Adie's%20syndrome

oculomotor nerve paralysis
type: Class
subclass of: DOID 562
has db xref: ICD10CM:H49.0
has db xref: MESH:D015840
has db xref: NCI:C27597
has db xref: SNOMEDCT_US_2023_03_01:12900003
has db xref: UMLS_CUI:C0028866
has exact synonym: III nerve palsy
has exact synonym: IIIrd nerve Paralysis
has exact synonym: Third cranial nerve paralysis
has OBO namespace: disease_ontology
id: DOID:11550
in subset: NCIthesaurus

Fuchs' endothelial dystrophy
type: Class
subclass of: corneal dystrophy
IAO_0000115: A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision.
has db xref: GARD:10018
has db xref: ICD10CM:H18.51
has db xref: MESH:D005642
has db xref: MIM:136800
has db xref: MIM:610158
has db xref: MIM:613267
has db xref: MIM:613268
has db xref: MIM:613269
has db xref: MIM:613270
has db xref: MIM:613271
has db xref: MIM:615523
has db xref: NCI:C84721
has db xref: ORDO:98974
has db xref: SNOMEDCT_US_2023_03_01:16949007
has db xref: UMLS_CUI:C0016781
has exact synonym: FCED
has exact synonym: Fuchs' corneal dystrophy
has exact synonym: Fuchs' endothelial corneal dystrophy
has OBO namespace: disease_ontology
id: DOID:11555
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: Fuchs' endothelial dystrophy
annotated property: IAO_0000115
annotated target: A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Fuchs%27_dystrophy
has db xref: url:http://ghr.nlm.nih.gov/condition/fuchs-endothelial-dystrophy
has db xref: url:http://www.mayoclinic.org/diseases-conditions/fuchs-dystrophy/basics/definition/con-20023893?_ga=1.163328703.2017809229.1415219956

Axiom
annotated source: Fuchs' endothelial dystrophy
annotated property: hasExactSynonym
annotated target: FCED
has synonym type: OMO_0003012

chondrocalcinosis
type: Class
subclass of: DOID 848
IAO_0000115: An arthritis that has_material_basis_in the accumulation of salt crystals located_in joint.
has alternative id: DOID:11303
has alternative id: DOID:1155
has alternative id: DOID:12090
has alternative id: DOID:12102
has alternative id: DOID:12945
has alternative id: DOID:13298
has alternative id: DOID:13299
has alternative id: DOID:13301
has alternative id: DOID:13302
has alternative id: DOID:13303
has alternative id: DOID:13304
has alternative id: DOID:14143
has alternative id: DOID:14220
has alternative id: DOID:14513
has alternative id: DOID:1834
has alternative id: DOID:1945
has alternative id: DOID:2486
has db xref: ICD9CM:712.1
has db xref: MIM:118600
has db xref: MIM:118610
has db xref: MIM:600668
has db xref: NCI:C34955
has db xref: ORDO:1416
has db xref: SNOMEDCT_US_2023_03_01:201624004
has db xref: SNOMEDCT_US_2023_03_01:201625003
has db xref: UMLS_CUI:C0033802
has db xref: UMLS_CUI:C0157852
has exact synonym: calcium pyrophosphate deposition disease
has exact synonym: pseudogout
has OBO namespace: disease_ontology
id: DOID:1156
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: chondrocalcinosis
annotated property: IAO_0000115
annotated target: An arthritis that has_material_basis_in the accumulation of salt crystals located_in joint.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007640
has db xref: url:http://en.wikipedia.org/wiki/Chondrocalcinosis
has db xref: url:http://my.clevelandclinic.org/disorders/pseudogout/hic_pseudogout.aspx
has db xref: url:http://www.mayoclinic.com/health/pseudogout/DS00717
has db xref: url:http://www.merckmanuals.com/professional/sec04/ch035/ch035c.html
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/000421.htm
has db xref: url:http://www.rheumatology.org/practice/clinical/patients/diseases_and_conditions/pseudogout.asp

hypertensive retinopathy
type: Class
subclass of: DOID 5679
has db xref: ICD10CM:H35.03
has db xref: ICD9CM:362.11
has db xref: MESH:D058437
has db xref: NCI:C3514
has db xref: SNOMEDCT_US_2023_03_01:422001004
has db xref: UMLS_CUI:C0152132
has OBO namespace: disease_ontology
id: DOID:11561
in subset: NCIthesaurus

listeriosis
type: Class
subclass of: bacterial infectious disease
IAO_0000115: A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth.
has db xref: ICD10CM:A32
has db xref: ICD9CM:027.0
has db xref: MESH:D008088
has db xref: NCI:C82994
has db xref: SNOMEDCT_US_2023_03_01:186315001
has db xref: UMLS_CUI:C0023860
has exact synonym: Infection by Listeria monocytogenes
has exact synonym: Listeria infection
has OBO namespace: disease_ontology
id: DOID:11573
in subset: DO infectious disease slim
in subset: NCIthesaurus
in subset: gram-positive bacterial infectious disease
in subset: zoonotic infectious disease

Axiom
annotated source: listeriosis
annotated property: IAO_0000115
annotated target: A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth.
type: ECO_0007640
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/001380.htm

Cauda equina syndrome
type: Class
subclass of: DOID 574
IAO_0000115: A peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord.
has db xref: GARD:10987
has db xref: ICD10CM:G83.4
has db xref: ICD9CM:344.6
has db xref: MESH:D000077684
has db xref: NCI:C35436
has db xref: SNOMEDCT_US_2023_03_01:89356000
has db xref: UMLS_CUI:C0392548
has OBO namespace: disease_ontology
id: DOID:11577
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Cauda equina syndrome
annotated property: IAO_0000115
annotated target: A peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Cauda_equina_syndrome

Riley-Day syndrome
type: Class
subclass of: DOID 870
IAO_0000115: A hereditary sensory neuropathy that is characterized by gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception and has_material_basis_in homozygous or compound heterozygous mutation in the IKBKAP gene (ELP1) on chromosome 9q31.
has db xref: ICD10CM:G90.1
has db xref: MESH:D004402
has db xref: MIM:223900
has db xref: NCI:C84706
has db xref: SNOMEDCT_US_2023_03_01:204087006
has db xref: UMLS_CUI:C0013364
has exact synonym: HSAN III
has exact synonym: familial autonomic nervous dysfunction
has exact synonym: familial dysautonomia
has exact synonym: hereditary sensory and autonomic neuropathy type III
has OBO namespace: disease_ontology
id: DOID:11589
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Riley-Day syndrome
annotated property: IAO_0000115
annotated target: A hereditary sensory neuropathy that is characterized by gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception and has_material_basis_in homozygous or compound heterozygous mutation in the IKBKAP gene (ELP1) on chromosome 9q31.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/26769677/

Axiom
annotated source: Riley-Day syndrome
annotated property: hasExactSynonym
annotated target: HSAN III
has synonym type: OMO_0003012

bladder lateral wall cancer
type: Class
subclass of: urinary bladder cancer
has db xref: ICD10CM:C67.2
has db xref: ICD9CM:188.2
has db xref: NCI:C12333
has db xref: SNOMEDCT_US_2023_03_01:93863000
has db xref: UMLS_CUI:C0496828
has exact synonym: Lateral Wall of bladder
has exact synonym: malignant neoplasm of lateral wall of urinary bladder
has OBO namespace: disease_ontology
id: DOID:11593
in subset: NCIthesaurus

pericardium cancer
type: Class
subclass of: heart cancer
has alternative id: DOID:5780
has db xref: ICD10CM:C38.0
has db xref: NCI:C4567
has db xref: NCI:C4651
has db xref: SNOMEDCT_US_2023_03_01:126734005
has db xref: SNOMEDCT_US_2023_03_01:93957005
has db xref: UMLS_CUI:C0346609
has db xref: UMLS_CUI:C0349574
has exact synonym: Pericardial tumor
has exact synonym: malignant neoplasm of pericardium
has exact synonym: malignant tumor of Pericardium
has OBO namespace: disease_ontology
id: DOID:116
in subset: NCIthesaurus

infant gynecomastia
type: Class
subclass of: breast disease
IAO_0000115: A breast disease that is characterized by benign proliferation of glandular breast tissue and occurs in children less than one year of age.
has db xref: ICD10CM:P83.4
has db xref: ICD9CM:778.7
has db xref: MESH:D006177
has db xref: NCI:C117312
has db xref: SNOMEDCT_US_2023_03_01:34831003
has db xref: UMLS_CUI:C1449721
has exact synonym: Neonatal gynaecomastia
has exact synonym: breast engorgement in newborn
has OBO namespace: disease_ontology
id: DOID:11603
in subset: NCIthesaurus

Axiom
annotated source: infant gynecomastia
annotated property: IAO_0000115
annotated target: A breast disease that is characterized by benign proliferation of glandular breast tissue and occurs in children less than one year of age.
type: ECO_0007645
has db xref: url:https://www.aafp.org/afp/2012/0401/p716.html
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/28260521

polycystic ovary syndrome
type: Class
subclass of: ovarian disease
IAO_0000115: An ovarian dysfunction that is characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight.
has db xref: EFO:0000660
has db xref: ICD10CM:E28.2
has db xref: ICD9CM:256.4
has db xref: MESH:D011085
has db xref: MIM:184700
has db xref: NCI:C26862
has db xref: SNOMEDCT_US_2023_03_01:69878008
has db xref: UMLS_CUI:C0032460
has exact synonym: Multicystic ovaries
has exact synonym: PCOS
has exact synonym: Polycystic Ovarian disease
has exact synonym: Polycystic ovaries
has exact synonym: Stein-Leventhal synd.
has exact synonym: Stein-Leventhal syndrome
has exact synonym: polycystic ovary
has OBO namespace: disease_ontology
id: DOID:11612
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: polycystic ovary syndrome
annotated property: IAO_0000115
annotated target: An ovarian dysfunction that is characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://ghr.nlm.nih.gov/glossary=polycysticovarysyndrome
has db xref: url:https://en.wikipedia.org/wiki/Polycystic_ovary_syndrome
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/28791858
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/20591140

Axiom
annotated source: polycystic ovary syndrome
annotated property: hasExactSynonym
annotated target: PCOS
has synonym type: OMO_0003012

penile cancer
type: Class
subclass of: male reproductive organ cancer
has alternative id: DOID:11614
has db xref: ICD10CM:C60
has db xref: ICD10CM:C60.2
has db xref: ICD9CM:187.3
has db xref: ICD9CM:187.4
has db xref: MESH:D010412
has db xref: NCI:C7547
has db xref: SNOMEDCT_US_2023_03_01:93716006
has db xref: SNOMEDCT_US_2023_03_01:93954003
has db xref: UMLS_CUI:C0153600
has db xref: UMLS_CUI:C0153601
has exact synonym: Ca penis
has exact synonym: Penile Ca
has exact synonym: malignant Penile tumor
has exact synonym: malignant neoplasm of body of penis
has exact synonym: penile neoplasm
has OBO namespace: disease_ontology
id: DOID:11615
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim

penile benign neoplasm
type: Class
subclass of: organ system benign neoplasm
has db xref: MESH:D010412
has db xref: NCI:C3317
has db xref: SNOMEDCT_US_2023_03_01:126896003
has db xref: UMLS_CUI:C0030849
has exact synonym: Penile tumor
has exact synonym: neoplasm of penis
has OBO namespace: disease_ontology
id: DOID:11624
in subset: NCIthesaurus

thyroid hormone resistance syndrome
type: Class
subclass of: hypothyroidism
has db xref: MESH:D018382
has db xref: MIM:188570
has db xref: MIM:274300
has db xref: NCI:C85191
has db xref: SNOMEDCT_US_2023_03_01:50375007
has db xref: UMLS_CUI:C2940786
has exact synonym: Generalized thyroid hormone resistance
has exact synonym: Refetoff syndrome
has exact synonym: Thyroid hormone responsiveness defect
has exact synonym: thyroid hormone resistance
has OBO namespace: disease_ontology
id: DOID:11633
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

myxedema
type: Class
subclass of: hypothyroidism
has db xref: ICD10CM:E03.9
has db xref: MESH:D009230
has db xref: MIM:255900
has db xref: NCI:C34834
has db xref: SNOMEDCT_US_2023_03_01:190274003
has db xref: UMLS_CUI:C0027145
has OBO namespace: disease_ontology
id: DOID:11634
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

bronchopulmonary dysplasia
type: Class
subclass of: DOID 850
IAO_0000115: A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.
has alternative id: DOID:11651
has db xref: ICD10CM:P27.1
has db xref: MESH:D001997
has db xref: NCI:C90599
has exact synonym: Bronchopulmonary dysplasia of newborn
has exact synonym: Chronic lung disease of prematurity
has exact synonym: Neonatal chronic lung disease
has exact synonym: Perinatal bronchopulmonary dysplasia
has exact synonym: Respiratory insufficiency
has exact synonym: neonatal chronic respiratory disease
has OBO namespace: disease_ontology
id: DOID:11650
in subset: NCIthesaurus

Axiom
annotated source: bronchopulmonary dysplasia
annotated property: IAO_0000115
annotated target: A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.
has db xref: url:https://www.nhlbi.nih.gov/health/bronchopulmonary-dysplasia

cicatricial pemphigoid
type: Class
subclass of: disease
IAO_0000115: A pemphigoid that is characterized by skin lesions and scaring and located_in mucous membranes and located_in skin.
has alternative id: DOID:11655
has db xref: GARD:5913
has db xref: ICD10CM:L12.1
has db xref: ICD9CM:694.6
has db xref: ICD9CM:694.61
has db xref: MESH:D010390
has db xref: MIM:164185
has db xref: NCI:C34907
has db xref: SNOMEDCT_US_2023_03_01:34250006
has db xref: SNOMEDCT_US_2023_03_01:76092003
has db xref: UMLS_CUI:C0030804
has db xref: UMLS_CUI:C0157721
has exact synonym: Cicatricial pemphigoid with ocular involvement
has exact synonym: Ocular pemphigoid
has exact synonym: benign mucous membrane pemphigoid
has exact synonym: benign mucous membrane pemphigoid with ocular involvement
has exact synonym: ocular pemphigus
has OBO namespace: disease_ontology
id: DOID:11656
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: cicatricial pemphigoid
annotated property: IAO_0000115
annotated target: A pemphigoid that is characterized by skin lesions and scaring and located_in mucous membranes and located_in skin.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Cicatricial_pemphigoid
has db xref: url:http://www.merckmanuals.com/professional/eye_disorders/conjunctival_and_scleral_disorders/cicatricial_pemphigoid.html

Patau syndrome
type: Class
subclass of: DOID 630
has db xref: ICD10CM:Q91.7
has db xref: ICD9CM:758.1
has db xref: MESH:D000073839
has db xref: NCI:C101223
has db xref: SNOMEDCT_US_2023_03_01:21111006
has db xref: UMLS_CUI:C0152095
has exact synonym: D1 Trisomy
has exact synonym: trisomy 13
has OBO namespace: disease_ontology
has related synonym: Patau's syndrome
id: DOID:11665
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

onchocerciasis
type: Class
subclass of: filariasis
IAO_0000115: A filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. The symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy.
has db xref: GARD:7252
has db xref: ICD10CM:B73
has db xref: ICD9CM:125.3
has db xref: MESH:D009855
has db xref: NCI:C34861
has db xref: SNOMEDCT_US_2023_03_01:38539003
has db xref: UMLS_CUI:C0029001
has exact synonym: Infection by Onchocerca volvulus
has exact synonym: Onchocerca volvulus infection
has exact synonym: volvulosis
has OBO namespace: disease_ontology
id: DOID:11678
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: onchocerciasis
annotated property: IAO_0000115
annotated target: A filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. The symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy.
type: ECO_0007637
has db xref: url:http://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm

familial hyperlipidemia
type: Class
subclass of: DOID 655
IAO_0000115: A lipid metabolism disease that is characterized by elevated levels of lipids in the blood.
has alternative id: DOID:3147
has db xref: ICD10CM:E78.5
has db xref: MESH:D006949
has db xref: MESH:D006951
has db xref: NCI:C34707
has db xref: NCI:C34709
has db xref: SNOMEDCT_US_2023_03_01:154739000
has db xref: SNOMEDCT_US_2023_03_01:3744001
has db xref: UMLS_CUI:C0020473
has db xref: UMLS_CUI:C0020476
has exact synonym: familial hyperlipoproteinemia
has exact synonym: hyperlipemia
has OBO namespace: disease_ontology
has related synonym: hyperlipidaemia
id: DOID:1168
in subset: NCIthesaurus

Axiom
annotated source: familial hyperlipidemia
annotated property: IAO_0000115
annotated target: A lipid metabolism disease that is characterized by elevated levels of lipids in the blood.
has db xref: url:https://my.clevelandclinic.org/health/diseases/21656-hyperlipidemia

melanoacanthoma
type: Class
subclass of: DOID 6498
has db xref: NCI:C27548
has db xref: SNOMEDCT_US_2023_03_01:201096007
has db xref: UMLS_CUI:C1321683
has OBO namespace: disease_ontology
id: DOID:11684
in subset: NCIthesaurus

portal vein thrombosis
type: Class
subclass of: hepatic vascular disease
IAO_0000115: A hepatic vascular disease that is characterized by a blood clot that forms within the hepatic portal vein.
has db xref: ICD10CM:I81
has db xref: ICD9CM:452
has db xref: NCI:C78565
has db xref: SNOMEDCT_US_2023_03_01:155455003
has db xref: UMLS_CUI:C0155773
has OBO namespace: disease_ontology
id: DOID:11695
in subset: NCIthesaurus

Axiom
annotated source: portal vein thrombosis
annotated property: IAO_0000115
annotated target: A hepatic vascular disease that is characterized by a blood clot that forms within the hepatic portal vein.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Portal_vein_thrombosis

heart cancer
type: Class
subclass of: cardiovascular cancer
IAO_0000115: A cardiovascular cancer located_in the heart.
has alternative id: DOID:9918
has db xref: GARD:2619
has db xref: ICD10CM:C38.0
has db xref: ICD9CM:164.1
has db xref: MESH:D006338
has db xref: NCI:C3081
has db xref: NCI:C3548
has db xref: SNOMEDCT_US_2023_03_01:126730001
has db xref: SNOMEDCT_US_2023_03_01:93825008
has db xref: UMLS_CUI:C0018809
has db xref: UMLS_CUI:C0153500
has exact synonym: Cardiac tumor
has exact synonym: Tumour of heart
has exact synonym: malignant Cardiac tumor
has exact synonym: malignant neoplasm of heart
has OBO namespace: disease_ontology
id: DOID:117
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: heart cancer
annotated property: IAO_0000115
annotated target: A cardiovascular cancer located_in the heart.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Heart_cancer

hyperlipoproteinemia type V
type: Class
subclass of: familial hyperlipidemia
has db xref: MESH:D006954
has db xref: MIM:144650
has db xref: NCI:C35645
has db xref: SNOMEDCT_US_2023_03_01:34349009
has db xref: UMLS_CUI:C0020481
has exact synonym: Fredrickson type V lipaemia
has exact synonym: familial hyperlipoproteinemia type V
has exact synonym: familial type 5 hyperlipoproteinemia
has OBO namespace: disease_ontology
id: DOID:1171
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

lipoatrophic diabetes mellitus
type: Class
subclass of: DOID 9352
IAO_0000115: A type 2 diabetes mellitus that is characterized by severe insulin resistance and lipodystrophy.
has db xref: MESH:D003923
has db xref: NCI:C34537
has db xref: SNOMEDCT_US_2023_03_01:408543001
has db xref: UMLS_CUI:C0011859
has exact synonym: lipoatrophic diabetes
has OBO namespace: disease_ontology
id: DOID:11712
in subset: NCIthesaurus

Axiom
annotated source: lipoatrophic diabetes mellitus
annotated property: IAO_0000115
annotated target: A type 2 diabetes mellitus that is characterized by severe insulin resistance and lipodystrophy.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Lipoatrophic_diabetes

diabetic angiopathy
type: Class
subclass of: vascular disease
IAO_0000115: A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes.
has alternative id: DOID:10182
has db xref: ICD9CM:250.7
has db xref: MESH:D003925
has db xref: NCI:C35610
has db xref: SNOMEDCT_US_2023_03_01:127014009
has db xref: UMLS_CUI:C0011871
has db xref: UMLS_CUI:C0011875
has exact synonym: Diabetic vascular disorder
has exact synonym: diabetic peripheral angiopathy
has OBO namespace: disease_ontology
id: DOID:11713
in subset: NCIthesaurus

Axiom
annotated source: diabetic angiopathy
annotated property: IAO_0000115
annotated target: A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes.
has db xref: url:https://en.wikipedia.org/wiki/Diabetic_angiopathy

gestational diabetes
type: Class
subclass of: DOID 9351
IAO_0000115: A diabetes mellitus that manifests during pregnancy.
has db xref: EFO:0004593
has db xref: ICD10CM:O24.4
has db xref: MESH:D016640
has db xref: NCI:C34942
has db xref: SNOMEDCT_US_2023_03_01:11687002
has db xref: UMLS_CUI:C0085207
has exact synonym: GDM
has exact synonym: Gestational diabetes mellitus
has exact synonym: Maternal gestational diabetes mellitus
has OBO namespace: disease_ontology
id: DOID:11714
in subset: NCIthesaurus

Axiom
annotated source: gestational diabetes
annotated property: IAO_0000115
annotated target: A diabetes mellitus that manifests during pregnancy.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/26824237/

Axiom
annotated source: gestational diabetes
annotated property: hasExactSynonym
annotated target: GDM
has synonym type: OMO_0003012

prediabetes syndrome
type: Class
subclass of: glucose metabolism disease
IAO_0000115: A glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes.
has db xref: ICD10CM:R73.03
has db xref: MESH:D011236
has db xref: NCI:C122685
has db xref: SNOMEDCT_US_2023_03_01:15777000
has db xref: UMLS_CUI:C0362046
has exact synonym: Prediabetes
has exact synonym: impaired glucose tolerance
has exact synonym: prediabetic state
has OBO namespace: disease_ontology
id: DOID:11716
in subset: NCIthesaurus

Axiom
annotated source: prediabetes syndrome
annotated property: IAO_0000115
annotated target: A glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/26280340/

neonatal diabetes mellitus
type: Class
subclass of: DOID 9351
IAO_0000115: A diabetes mellitus that is characterized by hyperglycemia occurring within the first 6 months of life.
has db xref: ICD10CM:P70.2
has db xref: ICD9CM:775.1
has db xref: NCI:C99248
has db xref: SNOMEDCT_US_2023_03_01:49817004
has db xref: UMLS_CUI:C0158981
has exact synonym: diabetes mellitus syndrome in newborn infant
has exact synonym: neonatal diabetes
has OBO namespace: disease_ontology
id: DOID:11717
in subset: DO FlyBase slim
in subset: NCIthesaurus

Axiom
annotated source: neonatal diabetes mellitus
annotated property: IAO_0000115
annotated target: A diabetes mellitus that is characterized by hyperglycemia occurring within the first 6 months of life.
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5928785/

oculopharyngeal muscular dystrophy
type: Class
subclass of: DOID 9884
has db xref: ICD10CM:G71.09
has db xref: MESH:D039141
has db xref: MIM:164300
has db xref: NCI:C84942
has db xref: SNOMEDCT_US_2023_03_01:77097004
has db xref: UMLS_CUI:C0270952
has exact synonym: Muscular dystrophy, oculopharyngeal
has OBO namespace: disease_ontology
id: DOID:11719
in subset: DO FlyBase slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

hyperlipoproteinemia type IV
type: Class
subclass of: familial hyperlipidemia
has alternative id: DOID:0050527
has db xref: ICD10CM:E78.1
has db xref: ICD9CM:272.1
has db xref: MESH:D006953
has db xref: MIM:144600
has db xref: MIM:145750
has db xref: NCI:C34711
has db xref: SNOMEDCT_US_2023_03_01:154741004
has db xref: UMLS_CUI:C0020480
has exact synonym: Endogenous hyperlipidaemia
has exact synonym: Fredrickson type IV Lipidemia
has exact synonym: Fredrickson type IV hyperlipoproteinemia
has exact synonym: Fredrickson type IV lipidaemia
has exact synonym: VLDL hyperlipoproteinemia
has exact synonym: familial hypertriglyceridemia
has OBO namespace: disease_ontology
id: DOID:1172
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

distal myopathy
type: Class
subclass of: DOID 9884
IAO_0000115: A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands.
has db xref: ICD10CM:G71.09
has db xref: MESH:D049310
has db xref: MIM:PS160500
has db xref: NCI:C84675
has db xref: ORDO:399096
has db xref: ORDO:5448
has db xref: ORDO:59135
has db xref: SNOMEDCT_US_2023_03_01:58795000
has db xref: UMLS_CUI:C0751336
has exact synonym: distal muscular dystrophy
has OBO namespace: disease_ontology
id: DOID:11720
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: distal myopathy
annotated property: IAO_0000115
annotated target: A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands.
type: ECO_0007636
has db xref: url:https://rarediseases.org/rare-diseases/distal-myopathy/

glycogen storage disease VII
type: Class
subclass of: glycogen storage disease
IAO_0000115: A glycogen storage disease that is characterized by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis and that has_material_basis_in homozygous or compound heterozygous mutation in the PFKM gene, which encodes muscle phosphofructokinase, on chromosome 12q13.
has db xref: ICD10CM:E74.09
has db xref: MESH:D006014
has db xref: MIM:232800
has db xref: NCI:C118437
has db xref: SNOMEDCT_US_2023_03_01:89597008
has db xref: UMLS_CUI:C0017926
has exact synonym: Glycogen storage disease 7
has exact synonym: Glycogen storage disease, type VII
has exact synonym: Muscle phosphofructokinase deficiency
has exact synonym: glycogen storage disease type VII
has exact synonym: phosphofructokinase myopathy
has OBO namespace: disease_ontology
id: DOID:11721
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: glycogen storage disease VII
annotated property: IAO_0000115
annotated target: A glycogen storage disease that is characterized by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis and that has_material_basis_in homozygous or compound heterozygous mutation in the PFKM gene, which encodes muscle phosphofructokinase, on chromosome 12q13.
has db xref: url:https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-vii/

myotonic dystrophy type 1
type: Class
subclass of: DOID 450
IAO_0000115: A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region.
has db xref: GARD:8310
has db xref: ICD10CM:G71.11
has db xref: ICD9CM:359.21
has db xref: MESH:D009223
has db xref: MIM:160900
has db xref: NCI:C84914
has db xref: SNOMEDCT_US_2023_03_01:1177122009
has db xref: UMLS_CUI:C0027126
has exact synonym: Dystrophia myotonica
has exact synonym: Steinert disease
has exact synonym: congenital myotonic dystrophy
has exact synonym: myotonic dystrophy of Steinert
has OBO namespace: disease_ontology
id: DOID:11722
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: myotonic dystrophy type 1
annotated property: IAO_0000115
annotated target: A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007638
type: ECO_0007646
has db xref: url:http://en.wikipedia.org/wiki/Myotonic_dystrophy
has db xref: url:http://ghr.nlm.nih.gov/condition/myotonic-dystrophy
has db xref: url:http://omim.org/entry/160900
has db xref: url:http://www.genome.gov/25521207
has db xref: url:http://www.ncbi.nlm.nih.gov/books/NBK1165/

Duchenne muscular dystrophy
type: Class
subclass of: DOID 9884
IAO_0000115: A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.
has db xref: GARD:6291
has db xref: MESH:D020388
has db xref: MIM:310200
has db xref: NCI:C75482
has db xref: SNOMEDCT_US_2023_03_01:155095006
has db xref: UMLS_CUI:C0013264
has exact synonym: Muscular dystrophy, Duchenne
has OBO namespace: disease_ontology
id: DOID:11723
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Duchenne muscular dystrophy
annotated property: IAO_0000115
annotated target: A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.
type: ECO_0007636
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Duchenne_muscular_dystrophy
has db xref: url:http://omim.org/entry/300377
has db xref: url:http://www.genome.gov/19518854

limb-girdle muscular dystrophy
type: Class
subclass of: DOID 9884
IAO_0000115: A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles.
has db xref: GARD:6907
has db xref: ICD10CM:G71.03
has db xref: MESH:D049288
has db xref: NCI:C84828
has db xref: ORDO:263
has db xref: SNOMEDCT_US_2023_03_01:56096001
has db xref: UMLS_CUI:C0686353
has exact synonym: Erb's muscular dystrophy
has exact synonym: Leyden-Mbius muscular dystrophy
has exact synonym: limb girdle muscular dystrophy
has OBO namespace: disease_ontology
id: DOID:11724
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: limb-girdle muscular dystrophy
annotated property: IAO_0000115
annotated target: A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007646
has db xref: url:http://en.wikipedia.org/wiki/Limb-girdle_muscular_dystrophy
has db xref: url:http://ghr.nlm.nih.gov/condition/limb-girdle-muscular-dystrophy
has db xref: url:http://www.ncbi.nlm.nih.gov/books/NBK1408/

Cornelia de Lange syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features.
has db xref: GARD:10109
has db xref: ICD10CM:Q87.19
has db xref: MESH:D003635
has db xref: MIM:PS122470
has db xref: NCI:C75016
has db xref: ORDO:199
has db xref: SNOMEDCT_US_2023_03_01:40354009
has db xref: UMLS_CUI:C0270972
has exact synonym: Brachmann de Lange syndrome
has exact synonym: De Lange syndrome
has OBO namespace: disease_ontology
id: DOID:11725
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Cornelia de Lange syndrome
annotated property: IAO_0000115
annotated target: A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Cornelia_de_Lange_Syndrome
has db xref: url:http://ghr.nlm.nih.gov/condition/cornelia-de-lange-syndrome
has db xref: url:http://www.omim.org/entry/122470
has db xref: url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/30/viewAbstract

Emery-Dreifuss muscular dystrophy
type: Class
subclass of: DOID 9884
IAO_0000115: A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle.
has db xref: GARD:6329
has db xref: MESH:D020389
has db xref: MIM:PS310300
has db xref: NCI:C84685
has db xref: ORDO:261
has db xref: SNOMEDCT_US_2023_03_01:129620000
has db xref: UMLS_CUI:C0410189
has exact synonym: EDMD
has OBO namespace: disease_ontology
id: DOID:11726
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Emery-Dreifuss muscular dystrophy
annotated property: IAO_0000115
annotated target: A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Emery%E2%80%93Dreifuss_muscular_dystrophy
has db xref: url:http://ghr.nlm.nih.gov/condition/emery-dreifuss-muscular-dystrophy

Axiom
annotated source: Emery-Dreifuss muscular dystrophy
annotated property: hasExactSynonym
annotated target: EDMD
has synonym type: OMO_0003012

facioscapulohumeral muscular dystrophy
type: Class
subclass of: DOID 9884
has db xref: GARD:9941
has db xref: ICD10CM:G71.02
has db xref: MESH:D020391
has db xref: NCI:C84704
has db xref: SNOMEDCT_US_2023_03_01:56096001
has db xref: UMLS_CUI:C0238288
has exact synonym: Landouzy Dejerine muscular dystrophy
has exact synonym: Landouzy-Dejerine muscular dystrophy
has exact synonym: Muscular dystrophy, Landouzy-Dejerine
has OBO namespace: disease_ontology
id: DOID:11727
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Lyme disease
type: Class
subclass of: bacterial infectious disease
IAO_0000115: A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia burgdorferi, which is transmitted_by blacklegged tick (Ixodes scapularis) or transmitted_by western blacklegged tick (Ixodes pacificus). The infection has_symptom fever, has_symptom headache, has_symptom fatigue, and has_symptom skin rash called erythema migrans. If left untreated, infection can spread to joints, the heart, and the nervous system.
has alternative id: DOID:12233
has db xref: GARD:12073
has db xref: ICD10CM:A69.2
has db xref: ICD9CM:088.81
has db xref: MESH:D008193
has db xref: MESH:D020852
has db xref: NCI:C45161
has db xref: SNOMEDCT_US_2023_03_01:154376000
has db xref: SNOMEDCT_US_2023_03_01:715507005
has db xref: UMLS_CUI:C0024198
has db xref: UMLS_CUI:C0752235
has exact synonym: Bannwarth syndrome
has exact synonym: Bannworth's syndrome
has exact synonym: Lyme borreliosis
has exact synonym: Neurological Lyme disease
has exact synonym: lyme neuroborreliosis
has exact synonym: neuroborreliosis
has OBO namespace: disease_ontology
id: DOID:11729
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus
in subset: gram-negative bacterial infectious disease
in subset: tick-borne infectious disease
in subset: zoonotic infectious disease

Axiom
annotated source: Lyme disease
annotated property: IAO_0000115
annotated target: A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia burgdorferi, which is transmitted_by blacklegged tick (Ixodes scapularis) or transmitted_by western blacklegged tick (Ixodes pacificus). The infection has_symptom fever, has_symptom headache, has_symptom fatigue, and has_symptom skin rash called erythema migrans. If left untreated, infection can spread to joints, the heart, and the nervous system.
type: ECO_0007637
has db xref: url:http://www.cdc.gov/lyme/transmission/index.html

hypochromic anemia
type: Class
subclass of: anemia
IAO_0000115: An anemia that is characterized by a decrease in the ratio of the weight of hemoglobin to the volume of the erythrocyte. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency.
has db xref: ICD10CM:D50
has db xref: MESH:D000747
has db xref: NCI:C34380
has db xref: SNOMEDCT_US_2023_03_01:44452003
has db xref: UMLS_CUI:C0002884
has exact synonym: ANEMIA HYPOCHROMIC
has OBO namespace: disease_ontology
id: DOID:11759
in subset: NCIthesaurus

Axiom
annotated source: hypochromic anemia
annotated property: IAO_0000115
annotated target: An anemia that is characterized by a decrease in the ratio of the weight of hemoglobin to the volume of the erythrocyte. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency.
has db xref: url:https://en.wikipedia.org/wiki/Hypochromic_anemia

chronic laryngitis
type: Class
subclass of: laryngitis
IAO_0000115: A laryngitis in which symptoms last longer than three weeks. Gastroesophageal reflux, and lingering bronchitis can cause the disease.
has db xref: ICD10CM:J37.0
has db xref: ICD9CM:476.0
has db xref: NCI:C26975
has db xref: SNOMEDCT_US_2023_03_01:155535001
has db xref: UMLS_CUI:C0155836
has OBO namespace: disease_ontology
id: DOID:11797
in subset: NCIthesaurus

Axiom
annotated source: chronic laryngitis
annotated property: IAO_0000115
annotated target: A laryngitis in which symptoms last longer than three weeks. Gastroesophageal reflux, and lingering bronchitis can cause the disease.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Laryngitis
has db xref: url:http://www.merck.com/mmhe/sec19/ch222/ch222d.html#sec19-ch222-ch222d-263

pericardial effusion
type: Class
subclass of: cardiovascular system disease
IAO_0000115: A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity.
has db xref: MESH:D010490
has db xref: NCI:C3319
has db xref: SNOMEDCT_US_2023_03_01:70370001
has db xref: UMLS_CUI:C0031039
has OBO namespace: disease_ontology
id: DOID:118
in subset: NCIthesaurus

Axiom
annotated source: pericardial effusion
annotated property: IAO_0000115
annotated target: A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Pericardial_effusion

protein-energy malnutrition
type: Class
subclass of: nutrition disease
IAO_0000115: A nutritional deficiency disease that is characterized by inadequate dietary protein and calories, which can have profound systemic effects including decreased metabolism, altered tissue distribution, compromised immunity, and impaired growth, and has_material_basis_in dietary deprivation.
has db xref: ICD10CM:E46
has db xref: ICD9CM:263.9
has db xref: MESH:D011502
has db xref: NCI:C34952
has db xref: SNOMEDCT_US_2023_03_01:72608005
has db xref: UMLS_CUI:C0033677
has OBO namespace: disease_ontology
id: DOID:11801
in subset: NCIthesaurus

Axiom
annotated source: protein-energy malnutrition
annotated property: IAO_0000115
annotated target: A nutritional deficiency disease that is characterized by inadequate dietary protein and calories, which can have profound systemic effects including decreased metabolism, altered tissue distribution, compromised immunity, and impaired growth, and has_material_basis_in dietary deprivation.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Protein%E2%80%93energy_malnutrition

bladder sarcoma
type: Class
subclass of: urinary bladder cancer
IAO_0000115: A sarcoma and malignant neoplasm of urinary bladder that is located_in the bladder.
has db xref: NCI:C4669
has db xref: SNOMEDCT_US_2023_03_01:278046008
has db xref: UMLS_CUI:C0349666
has exact synonym: sarcoma of bladder
has exact synonym: sarcoma of the urinary bladder
has OBO namespace: disease_ontology
id: DOID:11812
in subset: NCIthesaurus

Axiom
annotated source: bladder sarcoma
annotated property: IAO_0000115
annotated target: A sarcoma and malignant neoplasm of urinary bladder that is located_in the bladder.
type: ECO_0007637
has db xref: url:https://my.clevelandclinic.org/health/diseases/16512-genitourinary-sarcomas

ureter cancer
type: Class
subclass of: cancer
IAO_0000115: A urinary system cancer that is located_in the ureter.
has db xref: ICD10CM:C66
has db xref: ICD9CM:189.2
has db xref: MESH:D014516
has db xref: MIM:191600
has db xref: NCI:C7543
has db xref: SNOMEDCT_US_2023_03_01:94121005
has db xref: UMLS_CUI:C0153619
has exact synonym: malignant tumour of ureter
has exact synonym: malignant ureteral tumor
has OBO namespace: disease_ontology
id: DOID:11819
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: ureter cancer
annotated property: IAO_0000115
annotated target: A urinary system cancer that is located_in the ureter.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Ureter_cancer

bladder dome cancer
type: Class
subclass of: urinary bladder cancer
has db xref: ICD10CM:C67.1
has db xref: ICD9CM:188.1
has db xref: NCI:C12332
has db xref: SNOMEDCT_US_2023_03_01:93678005
has db xref: UMLS_CUI:C0496827
has exact synonym: Superior Surface of bladder
has exact synonym: malignant neoplasm of apex of urinary bladder
has exact synonym: malignant neoplasm of dome of urinary bladder
has exact synonym: malignant tumor of vault of bladder
has OBO namespace: disease_ontology
id: DOID:11820
in subset: NCIthesaurus

bladder lymphoma
type: Class
subclass of: urinary bladder cancer
has db xref: NCI:C6164
has db xref: UMLS_CUI:C1332561
has exact synonym: Lymphoma of the urinary bladder
has OBO namespace: disease_ontology
id: DOID:11821
in subset: NCIthesaurus

hepatorenal syndrome
type: Class
subclass of: kidney failure
IAO_0000115: An acute kidney failure that is characterized by severe renal vasoconstriction.
has db xref: GARD:6610
has db xref: ICD10CM:K76.7
has db xref: ICD9CM:572.4
has db xref: MESH:D006530
has db xref: NCI:C113400
has db xref: SNOMEDCT_US_2023_03_01:51292008
has db xref: UMLS_CUI:C0019212
has OBO namespace: disease_ontology
id: DOID:11823
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: hepatorenal syndrome
annotated property: IAO_0000115
annotated target: An acute kidney failure that is characterized by severe renal vasoconstriction.
type: ECO_0007646
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK470565/

multicentric reticulohistiocytosis
type: Class
subclass of: syndrome
IAO_0000115: A syndrome that is characterized by papulonodular skin lesions containing a proliferation of true macrophages associated with arthritis.
has db xref: GARD:7103
has db xref: ICD10CM:E78.81
has db xref: NCI:C27896
has db xref: ORDO:139436
has db xref: SNOMEDCT_US_2023_03_01:84241008
has db xref: UMLS_CUI:C0311284
has exact synonym: Lipoid dermatoarthritis
has OBO namespace: disease_ontology
id: DOID:11824
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: multicentric reticulohistiocytosis
annotated property: IAO_0000115
annotated target: A syndrome that is characterized by papulonodular skin lesions containing a proliferation of true macrophages associated with arthritis.
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/Multicentric_reticulohistiocytosis
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/23130232

degenerative myopia
type: Class
subclass of: myopia
has db xref: EFO:0004207
has db xref: ICD10CM:H44.2
has db xref: ICD9CM:360.21
has db xref: MESH:D047728
has db xref: NCI:C157149
has db xref: SNOMEDCT_US_2023_03_01:32022003
has db xref: UMLS_CUI:C0154778
has exact synonym: degenerative progressive high myopia
has exact synonym: pathological myopia
has exact synonym: progressive high (degenerative) myopia
has exact synonym: progressive high myopia
has OBO namespace: disease_ontology
id: DOID:11829
in subset: NCIthesaurus

myopia
type: Class
subclass of: DOID 9835
IAO_0000115: A refractive error characterized by the inability to see farther objects clearly.
has db xref: ICD10CM:H52.1
has db xref: ICD9CM:367.1
has db xref: MESH:D009216
has db xref: MIM:160700
has db xref: MIM:255500
has db xref: MIM:300613
has db xref: MIM:310460
has db xref: MIM:603221
has db xref: MIM:608367
has db xref: MIM:608474
has db xref: MIM:608908
has db xref: MIM:609256
has db xref: MIM:609257
has db xref: MIM:609258
has db xref: MIM:609259
has db xref: MIM:609994
has db xref: MIM:609995
has db xref: MIM:610320
has db xref: MIM:612554
has db xref: MIM:612717
has db xref: MIM:613969
has db xref: MIM:614166
has db xref: MIM:614167
has db xref: MIM:615420
has db xref: MIM:615431
has db xref: MIM:615946
has db xref: NCI:C102533
has db xref: SNOMEDCT_US_2023_03_01:155133003
has db xref: UMLS_CUI:C0027092
has exact synonym: near vision
has exact synonym: near-sightedness
has exact synonym: short-sightedness
has OBO namespace: disease_ontology
id: DOID:11830
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: myopia
annotated property: IAO_0000115
annotated target: A refractive error characterized by the inability to see farther objects clearly.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Myopia
has db xref: url:http://ghr.nlm.nih.gov/glossary=myopia
has db xref: url:http://www.mayoclinic.org/diseases-conditions/nearsightedness/basics/definition/con-20027548

cortical blindness
type: Class
subclass of: DOID 5691
has db xref: ICD10CM:H47.61
has db xref: ICD9CM:377.75
has db xref: MESH:D019575
has db xref: NCI:C118707
has db xref: SNOMEDCT_US_2023_03_01:68574006
has db xref: UMLS_CUI:C0155320
has OBO namespace: disease_ontology
id: DOID:11831
in subset: NCIthesaurus

visual epilepsy
type: Class
subclass of: epilepsy
has db xref: MESH:D012640
has db xref: NCI:C3980
has db xref: SNOMEDCT_US_2023_03_01:39194005
has db xref: UMLS_CUI:C0270824
has exact synonym: epilepsy, visual
has OBO namespace: disease_ontology
id: DOID:11832
in subset: NCIthesaurus

clubfoot
type: Class
subclass of: DOID 65
IAO_0000115: A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities.
has alternative id: DOID:0001874
has db xref: ICD10CM:Q66.89
has db xref: ICD9CM:754.51
has db xref: MESH:D003025
has db xref: MIM:119800
has db xref: NCI:C84641
has db xref: SNOMEDCT_US_2023_03_01:33163000
has db xref: UMLS_CUI:C0009081
has exact synonym: Congenital equinovarus
has exact synonym: Equinovarus deformity of foot
has exact synonym: congenital clubfoot
has exact synonym: congenital talipes equinovarus
has OBO namespace: disease_ontology
id: DOID:11836
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: clubfoot
annotated property: IAO_0000115
annotated target: A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities.
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/Club_foot
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/17610748

penis sarcoma
type: Class
subclass of: penile cancer
IAO_0000115: A sarcoma and malignant neoplasm of penis that is located_in the penis.
has db xref: NCI:C7730
has db xref: UMLS_CUI:C0238352
has exact synonym: sarcoma of penis
has OBO namespace: disease_ontology
id: DOID:11838
in subset: NCIthesaurus

Axiom
annotated source: penis sarcoma
annotated property: IAO_0000115
annotated target: A sarcoma and malignant neoplasm of penis that is located_in the penis.
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5020210/

nephrotic syndrome
type: Class
subclass of: DOID 576
IAO_0000115: A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability.
has db xref: ICD10CM:N04
has db xref: ICD9CM:581
has db xref: MESH:D009404
has db xref: NCI:C34845
has db xref: SNOMEDCT_US_2023_03_01:155851004
has db xref: UMLS_CUI:C0027726
has OBO namespace: disease_ontology
id: DOID:1184
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: nephrotic syndrome
annotated property: IAO_0000115
annotated target: A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Nephrotic_syndrome
has db xref: url:https://www.niddk.nih.gov/health-information/kidney-disease/nephrotic-syndrome-adults

coronary artery vasospasm
type: Class
subclass of: coronary artery disease
has db xref: MESH:D003329
has db xref: NCI:C34515
has db xref: SNOMEDCT_US_2023_03_01:23687008
has db xref: UMLS_CUI:C0010073
has exact synonym: Coronary Vasospasm
has exact synonym: Coronary artery spasm
has OBO namespace: disease_ontology
id: DOID:11840
in subset: NCIthesaurus

Pick's disease
type: Class
subclass of: cognitive disorder
IAO_0000115: A frontotemporal dementia that is characterized by a spectrum of neuropsychiatric symptoms ranging from those that affect the patient's personality to those that cause a decline in cognitive function.
has db xref: GARD:7392
has db xref: ICD10CM:G31.01
has db xref: ICD9CM:331.11
has db xref: MESH:D020774
has db xref: MIM:172700
has db xref: NCI:C85008
has db xref: SNOMEDCT_US_2023_03_01:154998003
has db xref: UMLS_CUI:C0236642
has exact synonym: Dementia in Pick's disease
has exact synonym: LOBAR ATROPHY OF BRAIN
has exact synonym: PICK DISEASE OF BRAIN
has exact synonym: Pick disease
has OBO namespace: disease_ontology
id: DOID:11870
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Pick's disease
annotated property: IAO_0000115
annotated target: A frontotemporal dementia that is characterized by a spectrum of neuropsychiatric symptoms ranging from those that affect the patient's personality to those that cause a decline in cognitive function.
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK562226/

ureteral benign neoplasm
type: Class
subclass of: DOID 731
has db xref: MESH:D014516
has db xref: NCI:C3427
has db xref: SNOMEDCT_US_2023_03_01:126882009
has db xref: UMLS_CUI:C0041955
has exact synonym: neoplasm of ureter
has exact synonym: ureteral tumor
has OBO namespace: disease_ontology
id: DOID:11885
in subset: NCIthesaurus

ureter leiomyoma
type: Class
subclass of: ureteral benign neoplasm
IAO_0000115: An ureteral benign neoplasm that derives_from smooth muscle cells.
has db xref: NCI:C6161
has db xref: UMLS_CUI:C1336875
has exact synonym: ureteral leiomyoma
has OBO namespace: disease_ontology
id: DOID:11887
in subset: NCIthesaurus

Axiom
annotated source: ureter leiomyoma
annotated property: IAO_0000115
annotated target: An ureteral benign neoplasm that derives_from smooth muscle cells.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/23894911

schwannoma of ureter
type: Class
subclass of: DOID 956
has db xref: NCI:C6162
has db xref: UMLS_CUI:C1336877
has exact synonym: ureteral schwannoma
has OBO namespace: disease_ontology
id: DOID:11888
in subset: NCIthesaurus

vaginal cancer
type: Class
subclass of: female reproductive organ cancer
IAO_0000115: A female reproductive system cancer that is located_in the vagina.
has alternative id: DOID:1902
has db xref: GARD:9348
has db xref: ICD10CM:C52
has db xref: ICD9CM:184.0
has db xref: MESH:D014625
has db xref: NCI:C3437
has db xref: NCI:C7410
has db xref: SNOMEDCT_US_2023_03_01:126921000
has db xref: SNOMEDCT_US_2023_03_01:188210000
has db xref: UMLS_CUI:C0042237
has db xref: UMLS_CUI:C0042258
has exact synonym: malignant neoplasm of vagina
has exact synonym: malignant tumor of vagina
has exact synonym: malignant vaginal tumor
has exact synonym: neoplasm of vagina
has exact synonym: vagina neoplasm
has exact synonym: vaginal tumor
has OBO namespace: disease_ontology
id: DOID:119
in subset: DO rare slim
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim

Axiom
annotated source: vaginal cancer
annotated property: IAO_0000115
annotated target: A female reproductive system cancer that is located_in the vagina.
type: ECO_0007637
type: ECO_0007641
has db xref: url:http://www.cancer.gov/dictionary?CdrID=523460

labium majus cancer
type: Class
subclass of: vulva cancer
IAO_0000115: A vulva cancer that is located_in the labium majus.
has db xref: ICD10CM:C51.0
has db xref: ICD9CM:184.1
has db xref: NCI:C7638
has db xref: SNOMEDCT_US_2023_03_01:93850006
has db xref: UMLS_CUI:C0496814
has exact synonym: malignant neoplasm of labia majora
has exact synonym: malignant tumor of Labia Majora
has OBO namespace: disease_ontology
id: DOID:11905
in subset: NCIthesaurus

Axiom
annotated source: labium majus cancer
annotated property: IAO_0000115
annotated target: A vulva cancer that is located_in the labium majus.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/16006794/

gastroparesis
type: Class
subclass of: DOID 76
has db xref: ICD10CM:K31.84
has db xref: ICD9CM:536.3
has db xref: MESH:D018589
has db xref: NCI:C80512
has db xref: SNOMEDCT_US_2023_03_01:235675006
has db xref: UMLS_CUI:C0152020
has exact synonym: Gastroparalysis
has exact synonym: Gastroparesis syndrome
has exact synonym: gastric atonia
has OBO namespace: disease_ontology
id: DOID:11914
in subset: NCIthesaurus

tinea cruris
type: Class
subclass of: DOID 8913
IAO_0000115: A dermatophytosis that results_in fungal skin infection located_in groin, located_in perineum, or located_in perianal region, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching in groin, thigh skin folds, or anus and results_in_formation_of rash which appears as raised red plaques (platelike areas) and scaly patches with sharply defined borders that may blister and ooze.
has db xref: ICD9CM:110.3
has db xref: NCI:C34535
has db xref: SNOMEDCT_US_2023_03_01:59089002
has db xref: UMLS_CUI:C0011638
has exact synonym: Dermatophytosis of groin & perianal area
has exact synonym: Dhobie itch
has exact synonym: dermatophytosis of groin and perianal area
has OBO namespace: disease_ontology
id: DOID:11917
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: tinea cruris
annotated property: IAO_0000115
annotated target: A dermatophytosis that results_in fungal skin infection located_in groin, located_in perineum, or located_in perianal region, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching in groin, thigh skin folds, or anus and results_in_formation_of rash which appears as raised red plaques (platelike areas) and scaly patches with sharply defined borders that may blister and ooze.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Tinea_cruris

peripheral nervous system neoplasm
type: Class
subclass of: nervous system cancer
IAO_0000115: A nervous system cancer that is located in the peripheral nervous system.
has alternative id: DOID:3194
has db xref: MESH:D010524
has db xref: MESH:D018317
has db xref: NCI:C3321
has db xref: NCI:C4972
has db xref: SNOMEDCT_US_2023_03_01:126980002
has db xref: SNOMEDCT_US_2023_03_01:189946005
has db xref: UMLS_CUI:C0031118
has db xref: UMLS_CUI:C0206727
has exact synonym: neoplasm of peripheral nerve
has exact synonym: nerve sheath neoplasm
has exact synonym: tumor of PNS
has OBO namespace: disease_ontology
id: DOID:1192
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim

Axiom
annotated source: peripheral nervous system neoplasm
annotated property: IAO_0000115
annotated target: A nervous system cancer that is located in the peripheral nervous system.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Peripheral_nervous_system

tracheal cancer
type: Class
subclass of: cancer
IAO_0000115: A respiratory system cancer that is located_in the trachea.
has db xref: ICD10CM:C33
has db xref: ICD9CM:162.0
has db xref: NCI:C9346
has db xref: SNOMEDCT_US_2023_03_01:187855003
has db xref: UMLS_CUI:C0153489
has OBO namespace: disease_ontology
id: DOID:11920
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim

Axiom
annotated source: tracheal cancer
annotated property: IAO_0000115
annotated target: A respiratory system cancer that is located_in the trachea.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Lung_cancer

head and neck cancer
type: Class
subclass of: cancer
IAO_0000115: An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx.
has db xref: GARD:12425
has db xref: MESH:D006258
has db xref: NCI:C3077
has db xref: SNOMEDCT_US_2023_03_01:255055008
has db xref: UMLS_CUI:C0018671
has exact synonym: head and neck neoplasm
has exact synonym: head and neck tumours
has exact synonym: head/neck neoplasm
has exact synonym: tumor of head and neck
has OBO namespace: disease_ontology
id: DOID:11934
in subset: DO CFDE slim
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim

Axiom
annotated source: head and neck cancer
annotated property: IAO_0000115
annotated target: An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007641
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/Head_and_neck_cancer
has db xref: url:http://www.cancer.gov/cancertopics/factsheet/Sites-Types/head-and-neck
has db xref: url:http://www.cancer.gov/dictionary?CdrID=257519

Creutzfeldt-Jakob disease
type: Class
subclass of: DOID 649
has db xref: EFO:0004226
has db xref: GARD:6956
has db xref: ICD10CM:A81.0
has db xref: ICD9CM:046.1
has db xref: MESH:D007562
has db xref: MIM:123400
has db xref: NCI:C26802
has db xref: SNOMEDCT_US_2023_03_01:155061007
has db xref: UMLS_CUI:C0022336
has exact synonym: CJD
has exact synonym: Creutzfeldt Jacob syndrome
has exact synonym: Creutzfeldt Jakob disease
has exact synonym: Creutzfeldt-Jacob disease
has exact synonym: Jakob-Creutzfeldt disease
has exact synonym: Subacute spongiform encephalopathy
has exact synonym: Transmissible virus dementia
has OBO namespace: disease_ontology
id: DOID:11949
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus
in subset: zoonotic infectious disease
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Creutzfeldt-Jakob disease
annotated property: hasExactSynonym
annotated target: CJD
has synonym type: OMO_0003012

ischemic neuropathy
type: Class
subclass of: DOID 870
has db xref: NCI:C27025
has db xref: SNOMEDCT_US_2023_03_01:129611009
has db xref: UMLS_CUI:C0238309
has exact synonym: Ischemic peripheral neuropathy
has OBO namespace: disease_ontology
id: DOID:1195
in subset: NCIthesaurus

esophagitis
type: Class
subclass of: DOID 6050
has alternative id: DOID:11962
has db xref: ICD10CM:K20
has db xref: ICD9CM:530.1
has db xref: MESH:D004941
has db xref: NCI:C9224
has db xref: SNOMEDCT_US_2023_03_01:155673008
has db xref: UMLS_CUI:C0014868
has exact synonym: acute esophagitis
has OBO namespace: disease_ontology
id: DOID:11963
in subset: NCIthesaurus

botulism
type: Class
subclass of: bacterial infectious disease
IAO_0000115: A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located in neuromuscular junction resulting in descending muscle paralysis, 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.
has db xref: GARD:943
has db xref: ICD10CM:A05.1
has db xref: MESH:D001906
has db xref: NCI:C84599
has db xref: SNOMEDCT_US_2023_03_01:154276003
has db xref: UMLS_CUI:C0006057
has exact synonym: Botulism poisoning
has exact synonym: Food poisoning due to Clostridium botulinum
has exact synonym: Foodborne botulism
has exact synonym: Infection due to clostridium botulinum
has exact synonym: Intoxication with Clostridium botulinum toxin
has OBO namespace: disease_ontology
id: DOID:11976
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus
in subset: gram-positive bacterial infectious disease

Axiom
annotated source: botulism
annotated property: IAO_0000115
annotated target: A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located in neuromuscular junction resulting in descending muscle paralysis, 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.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Botulism
has db xref: url:https://en.wikipedia.org/wiki/Botulism
has db xref: url:https://www.cdc.gov/botulism/index.html

morbid obesity
type: Class
subclass of: DOID 9970
has db xref: ICD9CM:278.01
has db xref: MESH:D009767
has db xref: NCI:C34858
has db xref: SNOMEDCT_US_2023_03_01:389986000
has db xref: UMLS_CUI:C0028756
has exact synonym: Severe obesity
has OBO namespace: disease_ontology
id: DOID:11981
in subset: NCIthesaurus

Prader-Willi syndrome
type: Class
subclass of: DOID 630
IAO_0000115: A chromosomal disease that is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating and obesity.
has db xref: GARD:5575
has db xref: ICD10CM:Q87.11
has db xref: ICD9CM:759.81
has db xref: MESH:D011218
has db xref: MIM:176270
has db xref: NCI:C75463
has db xref: ORDO:739
has db xref: SNOMEDCT_US_2023_03_01:205794007
has db xref: UMLS_CUI:C0032897
has exact synonym: Prader Willi syndrome
has OBO namespace: disease_ontology
id: DOID:11983
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Prader-Willi syndrome
annotated property: IAO_0000115
annotated target: A chromosomal disease that is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating and obesity.
type: ECO_0007637
has db xref: url:https://ghr.nlm.nih.gov/condition/prader-willi-syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK1330/

hypertrophic cardiomyopathy
type: Class
subclass of: cardiomyopathy
IAO_0000115: An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.
has alternative id: DOID:11986
has db xref: ICD9CM:425.1
has db xref: KEGG:05410
has db xref: MESH:D002312
has db xref: NCI:C34449
has db xref: ORDO:217569
has db xref: SNOMEDCT_US_2023_03_01:389998005
has db xref: UMLS_CUI:C0007194
has exact synonym: hypertrophic obstructive cardiomyopathy
has OBO namespace: disease_ontology
id: DOID:11984
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: hypertrophic cardiomyopathy
annotated property: IAO_0000115
annotated target: An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Hypertrophic_cardiomyopathy
has db xref: url:http://www.mayoclinic.org/diseases-conditions/hypertrophic-cardiomyopathy/basics/definition/con-20030747
has db xref: url:http://www.nhlbi.nih.gov/health/health-topics/topics/cm/

osteopoikilosis
type: Class
subclass of: osteosclerosis
IAO_0000115: An osteosclerosis that results_in numerous bone islands located_in skeleton.
has db xref: GARD:4158
has db xref: ICD10CM:Q78.8
has db xref: ICD9CM:756.53
has db xref: MESH:D010023
has db xref: NCI:C84985
has db xref: SNOMEDCT_US_2023_03_01:9147009
has db xref: UMLS_CUI:C0029455
has OBO namespace: disease_ontology
id: DOID:11991
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: osteopoikilosis
annotated property: IAO_0000115
annotated target: An osteosclerosis that results_in numerous bone islands located_in skeleton.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Osteopoikilosis

atrophy of testis
type: Class
subclass of: testicular disease
has db xref: ICD10CM:N50.0
has db xref: ICD9CM:608.3
has db xref: NCI:C123259
has db xref: SNOMEDCT_US_2023_03_01:155938008
has db xref: UMLS_CUI:C0156312
has OBO namespace: disease_ontology
id: DOID:11994
in subset: NCIthesaurus

spermatic cord torsion
type: Class
subclass of: testicular disease
has db xref: ICD10CM:N44.02
has db xref: ICD9CM:608.2
has db xref: MESH:D013086
has db xref: MIM:187400
has db xref: NCI:C26885
has db xref: SNOMEDCT_US_2023_03_01:198046000
has db xref: UMLS_CUI:C0037856
has exact synonym: Torsion of testicle
has exact synonym: Torsion of testis
has exact synonym: testicular Torsion
has OBO namespace: disease_ontology
id: DOID:11996
in subset: NCIthesaurus

spermatocele
type: Class
subclass of: reproductive system disease
has db xref: ICD10CM:N43.4
has db xref: ICD9CM:608.1
has db xref: MESH:D013088
has db xref: NCI:C120909
has db xref: SNOMEDCT_US_2023_03_01:155936007
has db xref: UMLS_CUI:C0037859
has OBO namespace: disease_ontology
id: DOID:11997
in subset: NCIthesaurus

female reproductive organ cancer
type: Class
subclass of: reproductive organ cancer
IAO_0000115: A reproductive organ cancer that is manifested in the female genitals. This includes organs such as the ovaries, fallopian tubes, uterus, cervix, vagina and vulva.
has alternative id: DOID:1244
has alternative id: DOID:1281
has db xref: ICD10CM:C57
has db xref: ICD9CM:184
has db xref: MESH:D005833
has db xref: NCI:C3053
has db xref: NCI:C4913
has db xref: SNOMEDCT_US_2023_03_01:126907002
has db xref: SNOMEDCT_US_2023_03_01:188207007
has db xref: UMLS_CUI:C0017416
has db xref: UMLS_CUI:C0153585
has db xref: UMLS_CUI:C0699889
has exact synonym: female reproductive cancer
has exact synonym: malignant Gynecologic tumor
has exact synonym: malignant neoplasm of female genital organ
has OBO namespace: disease_ontology
id: DOID:120
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: female reproductive organ cancer
annotated property: IAO_0000115
annotated target: A reproductive organ cancer that is manifested in the female genitals. This includes organs such as the ovaries, fallopian tubes, uterus, cervix, vagina and vulva.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Template:Female_genital_neoplasia
has db xref: url:http://www.wrongdiagnosis.com/g/genital_system_cancer/intro.htm

tracheal lymphoma
type: Class
subclass of: tracheal cancer
has db xref: NCI:C6248
has db xref: UMLS_CUI:C1336773
has exact synonym: Lymphoma of Trachea
has exact synonym: lymphoma of the trachea
has OBO namespace: disease_ontology
id: DOID:12001
in subset: NCIthesaurus

trachea sarcoma
type: Class
subclass of: tracheal cancer
IAO_0000115: A sarcoma and malignant tumor of trachea that is located_in the trachea.
has db xref: NCI:C6050
has db xref: UMLS_CUI:C1336774
has exact synonym: sarcoma of the trachea
has OBO namespace: disease_ontology
id: DOID:12002
in subset: NCIthesaurus

Axiom
annotated source: trachea sarcoma
annotated property: IAO_0000115
annotated target: A sarcoma and malignant tumor of trachea that is located_in the trachea.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Lung_cancer

trachea squamous cell carcinoma
type: Class
subclass of: tracheal cancer
IAO_0000115: A squamous cell carcinoma that is located_in the trachea.
has db xref: NCI:C4448
has db xref: SNOMEDCT_US_2023_03_01:254620000
has db xref: UMLS_CUI:C0345946
has exact synonym: Tracheal Epidermoid carcinoma
has OBO namespace: disease_ontology
id: DOID:12003
in subset: NCIthesaurus

Axiom
annotated source: trachea squamous cell carcinoma
annotated property: IAO_0000115
annotated target: A squamous cell carcinoma that is located_in the trachea.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/26066883

trigeminal nerve neoplasm
type: Class
subclass of: cranial nerve malignant neoplasm
has db xref: NCI:C5122
has db xref: SNOMEDCT_US_2023_03_01:126971002
has db xref: UMLS_CUI:C1263897
has exact synonym: neoplasm of trigeminal nerve
has exact synonym: tumor of Trigeminal nerve
has OBO namespace: disease_ontology
id: DOID:1201
in subset: NCIthesaurus

frontal lobe neoplasm
type: Class
subclass of: cerebrum cancer
has alternative id: DOID:12015
has db xref: ICD10CM:C71.1
has db xref: ICD9CM:191.1
has db xref: NCI:C5572
has db xref: SNOMEDCT_US_2023_03_01:126954003
has db xref: SNOMEDCT_US_2023_03_01:93807001
has db xref: UMLS_CUI:C0153635
has db xref: UMLS_CUI:C1263886
has exact synonym: malignant neoplasm of frontal lobe
has exact synonym: neoplasm of frontal lobe
has exact synonym: tumor of Frontal Lobe
has OBO namespace: disease_ontology
id: DOID:12016
in subset: NCIthesaurus

Conn's syndrome
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: An adrenal adenoma characterized by the over production of aldosterone.
has db xref: GARD:7456
has db xref: ICD10CM:E26.01
has db xref: ICD9CM:255.12
has db xref: MESH:D006929
has db xref: NCI:C34510
has db xref: SNOMEDCT_US_2023_03_01:13536004
has db xref: UMLS_CUI:C1384514
has exact synonym: Conn syndrome
has exact synonym: primary aldosteronism
has OBO namespace: disease_ontology
id: DOID:12028
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Conn's syndrome
annotated property: IAO_0000115
annotated target: An adrenal adenoma characterized by the over production of aldosterone.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Conn%27s_syndrome

panuveitis
type: Class
subclass of: uveitis
IAO_0000115: An uveitis that is characterized by inflammation of all layers of the uvea (middle layer) of the eye, which includes the iris, ciliary body, and choroid.
has db xref: GARD:8577
has db xref: ICD10CM:H44.11
has db xref: ICD9CM:360.12
has db xref: MESH:D015864
has db xref: NCI:C84989
has db xref: SNOMEDCT_US_2023_03_01:75614007
has db xref: UMLS_CUI:C0030343
has exact synonym: Diffuse uveitis
has OBO namespace: disease_ontology
id: DOID:12030
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: panuveitis
annotated property: IAO_0000115
annotated target: An uveitis that is characterized by inflammation of all layers of the uvea (middle layer) of the eye, which includes the iris, ciliary body, and choroid.
type: ECO_0007637
has db xref: url:https://rarediseases.info.nih.gov/diseases/8577/panuveitis

kernicterus due to isoimmunization
type: Class
subclass of: neonatal jaundice
has db xref: ICD10CM:P57.0
has db xref: ICD9CM:773.4
has db xref: NCI:C101270
has db xref: SNOMEDCT_US_2023_03_01:206433007
has db xref: UMLS_CUI:C0270204
has OBO namespace: disease_ontology
id: DOID:12043
in subset: NCIthesaurus

allergic disease
type: Class
subclass of: disease
IAO_0000115: An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods.
OBI_9991118: allergic disease
has db xref: ICD10CM:T78.40
has db xref: MESH:D006967
has db xref: NCI:C3114
has db xref: SNOMEDCT_US_2023_03_01:257550005
has db xref: UMLS_CUI:C0020517
has exact synonym: allergic hypersensitivity disease
has exact synonym: hypersensitivity
has exact synonym: hypersensitivity reaction type I disease
has OBO namespace: disease_ontology
id: DOID:1205
in subset: NCIthesaurus

Axiom
annotated source: allergic disease
annotated property: IAO_0000115
annotated target: An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Allergy
comment: ls:IEDB

cryptococcosis
type: Class
subclass of: fungal infectious disease
IAO_0000115: An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii.
has db xref: GARD:6218
has db xref: ICD10CM:B45
has db xref: ICD9CM:117.5
has db xref: MESH:D003453
has db xref: NCI:C2967
has db xref: SNOMEDCT_US_2023_03_01:42386007
has db xref: UMLS_CUI:C0010414
has exact synonym: Busse-Buschke's disease
has exact synonym: European cryptococcosis
has exact synonym: cryptococcal infection
has exact synonym: torula
has exact synonym: torulosis
has OBO namespace: disease_ontology
has related synonym: cryptococcus neoformans infection
id: DOID:12053
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: cryptococcosis
annotated property: IAO_0000115
annotated target: An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Cryptococcosis

Rett syndrome
type: Class
subclass of: disease of mental health
IAO_0000115: A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability.
has db xref: GARD:5696
has db xref: ICD10CM:F84.2
has db xref: MESH:D015518
has db xref: MIM:312750
has db xref: MIM:613454
has db xref: NCI:C75488
has db xref: SNOMEDCT_US_2023_03_01:192583003
has db xref: UMLS_CUI:C0035372
has exact synonym: Rett's disorder
has exact synonym: cerebroatrophic hyperammonemia
has OBO namespace: disease_ontology
id: DOID:1206
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Rett syndrome
annotated property: IAO_0000115
annotated target: A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability.
type: ECO_0007637
has db xref: url:http://www.nichd.nih.gov/health/topics/rett_syndrome.cfm
has db xref: url:http://www.ninds.nih.gov/disorders/rett/detail_rett.htm
has db xref: url:https://medlineplus.gov/ency/article/001536.htm

mediastinum neurofibroma
type: Class
subclass of: DOID 4691
has db xref: NCI:C6631
has db xref: UMLS_CUI:C1334674
has exact synonym: Neurofibroma of mediastinum
has OBO namespace: disease_ontology
id: DOID:12064
in subset: NCIthesaurus

vaginal disease
type: Class
subclass of: reproductive system disease
IAO_0000115: A female reproductive system disease that is located_in the vagina.
has db xref: MESH:D014623
has db xref: NCI:C26910
has db xref: SNOMEDCT_US_2023_03_01:25658005
has db xref: UMLS_CUI:C0042251
has OBO namespace: disease_ontology
id: DOID:121
in subset: NCIthesaurus

Axiom
annotated source: vaginal disease
annotated property: IAO_0000115
annotated target: A female reproductive system disease that is located_in the vagina.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Vaginal_disease

optic neuritis
type: Class
subclass of: optic nerve disease
IAO_0000115: An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision.
has db xref: GARD:7320
has db xref: ICD10CM:H46
has db xref: ICD9CM:377.3
has db xref: MESH:D009902
has db xref: NCI:C84950
has db xref: SNOMEDCT_US_2023_03_01:194051001
has db xref: UMLS_CUI:C0029134
has OBO namespace: disease_ontology
id: DOID:1210
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: optic neuritis
annotated property: IAO_0000115
annotated target: An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision.
type: ECO_0007637
has db xref: url:https://www.mayoclinic.org/diseases-conditions/optic-neuritis/symptoms-causes/syc-20354953
comment: sn:IEDB

pulmonary alveolar proteinosis
type: Class
subclass of: DOID 850
IAO_0000115: A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange.
has db xref: ICD10CM:J84.01
has db xref: ICD9CM:516.0
has db xref: MESH:D011649
has db xref: MIM:265120
has db xref: MIM:300770
has db xref: MIM:610913
has db xref: MIM:610921
has db xref: MIM:614370
has db xref: NCI:C85037
has db xref: ORDO:264675
has db xref: SNOMEDCT_US_2023_03_01:10501004
has db xref: UMLS_CUI:C0034050
has OBO namespace: disease_ontology
id: DOID:12120
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: pulmonary alveolar proteinosis
annotated property: IAO_0000115
annotated target: A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Pulmonary_alveolar_proteinosis

pica disease
type: Class
subclass of: DOID 8670
IAO_0000115: An eating disorder that is characterized by an appetite for non-nutritive substances or food ingredients.
has db xref: ICD9CM:307.52
has db xref: MESH:D010842
has db xref: NCI:C92566
has db xref: SNOMEDCT_US_2023_03_01:14077003
has db xref: UMLS_CUI:C0031873
has OBO namespace: disease_ontology
id: DOID:12128
in subset: NCIthesaurus

Axiom
annotated source: pica disease
annotated property: IAO_0000115
annotated target: An eating disorder that is characterized by an appetite for non-nutritive substances or food ingredients.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Pica_%28disorder%29

granulomatosis with polyangiitis
type: Class
subclass of: disease
IAO_0000115: An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels.
has db xref: GARD:7880
has db xref: ICD10CM:M31.3
has db xref: ICD9CM:446.4
has db xref: MESH:D014890
has db xref: MIM:608710
has db xref: NCI:C3444
has db xref: SNOMEDCT_US_2023_03_01:195353004
has db xref: UMLS_CUI:C3495801
has exact synonym: Necrotizing respiratory granulomatosis
has exact synonym: Wegener granulomatosis, formerly
has OBO namespace: disease_ontology
id: DOID:12132
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: granulomatosis with polyangiitis
annotated property: IAO_0000115
annotated target: An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Granulomatosis_with_polyangiitis

factor VIII deficiency
type: Class
subclass of: blood coagulation disease
IAO_0000115: A hemophilia that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged.
has db xref: GARD:6591
has db xref: ICD10CM:D66
has db xref: ICD9CM:286.0
has db xref: MESH:D006467
has db xref: MIM:306700
has db xref: NCI:C27146
has db xref: ORDO:98878
has db xref: SNOMEDCT_US_2023_03_01:28293008
has db xref: UMLS_CUI:C0019069
has exact synonym: Congenital factor VIII disorder
has exact synonym: Hemophilia A
has exact synonym: Subhemophilia
has exact synonym: classic hemophilia
has exact synonym: classic hemophilia A
has OBO namespace: disease_ontology
id: DOID:12134
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: factor VIII deficiency
annotated property: IAO_0000115
annotated target: A hemophilia that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Hemophilia_A
comment: sn:IEDB

dysthymic disorder
type: Class
subclass of: mood disorder
IAO_0000115: A mood disorder that involves the presence of a low mood almost daily over a span of at least two years.
has db xref: ICD10CM:F34.1
has db xref: ICD9CM:300.4
has db xref: MESH:D019263
has db xref: NCI:C34562
has db xref: SNOMEDCT_US_2023_03_01:192384008
has db xref: UMLS_CUI:C0013415
has exact synonym: dysthymia
has OBO namespace: disease_ontology
id: DOID:12139
in subset: NCIthesaurus

Axiom
annotated source: dysthymic disorder
annotated property: IAO_0000115
annotated target: A mood disorder that involves the presence of a low mood almost daily over a span of at least two years.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Mood_disorder

neurogenic bladder
type: Class
subclass of: bladder disease
has db xref: ICD9CM:596.54
has db xref: MESH:D001750
has db xref: NCI:C79696
has db xref: SNOMEDCT_US_2023_03_01:192972000
has db xref: UMLS_CUI:C0005697
has exact synonym: Neuropathic bladder
has exact synonym: neurogenic dysfunction of the urinary bladder
has exact synonym: neurogenic urinary bladder disorder
has OBO namespace: disease_ontology
id: DOID:12143
in subset: NCIthesaurus

lymphocytic choriomeningitis
type: Class
subclass of: DOID 934
IAO_0000115: A viral infectious disease that results in infection located in brain, or located in meninges, or located in brain and meninges, has_material_basis_in lymphocytic choriomeningitis virus (Mammarenavirus choriomeningitidis), which is transmitted by common house mouse, Mus musculus. The infection has symptom fever, has symptom lack of appetite, has symptom headache, has symptom muscle aches, has symptom malaise, has symptom nausea, and has symptom vomiting.
has alternative id: DOID:10662
has db xref: ICD10CM:A87.2
has db xref: MESH:D008216
has db xref: NCI:C174114
has db xref: SNOMEDCT_US_2023_03_01:192668002
has db xref: UMLS_CUI:C0024266
has exact synonym: LCM
has exact synonym: Lymphocytic choriomeningitis virus encephalomyelitis
has exact synonym: Lymphocytic meningitis
has exact synonym: Lymphocytic meningoencephalitis
has OBO namespace: disease_ontology
id: DOID:12155
in subset: DO infectious disease slim
in subset: NCIthesaurus
in subset: zoonotic infectious disease

Axiom
annotated source: lymphocytic choriomeningitis
annotated property: IAO_0000115
annotated target: A viral infectious disease that results in infection located in brain, or located in meninges, or located in brain and meninges, has_material_basis_in lymphocytic choriomeningitis virus (Mammarenavirus choriomeningitidis), which is transmitted by common house mouse, Mus musculus. The infection has symptom fever, has symptom lack of appetite, has symptom headache, has symptom muscle aches, has symptom malaise, has symptom nausea, and has symptom vomiting.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Lymphocytic_choriomeningitis

Axiom
annotated source: lymphocytic choriomeningitis
annotated property: hasExactSynonym
annotated target: LCM
has synonym type: OMO_0003012

arachnoiditis
type: Class
subclass of: DOID 9471
has db xref: GARD:5839
has db xref: ICD10CM:G03
has db xref: MESH:D001100
has db xref: NCI:C37913
has db xref: SNOMEDCT_US_2023_03_01:154986008
has db xref: UMLS_CUI:C0003708
has OBO namespace: disease_ontology
id: DOID:12156
in subset: DO rare slim
in subset: NCIthesaurus

aseptic meningitis
type: Class
subclass of: DOID 9471
IAO_0000115: A meningitis that is characterized by meningeal inflammation not caused by an identifiable bacterial pathogen in the cerebrospinal fluid. A large majority of them are caused by enteroviruses.
has db xref: ICD10CM:G03.0
has db xref: MESH:D008582
has db xref: NCI:C118299
has db xref: SNOMEDCT_US_2023_03_01:186490006
has db xref: UMLS_CUI:C0025290
has exact synonym: acute aseptic meningitis
has OBO namespace: disease_ontology
id: DOID:12157
in subset: NCIthesaurus

Axiom
annotated source: aseptic meningitis
annotated property: IAO_0000115
annotated target: A meningitis that is characterized by meningeal inflammation not caused by an identifiable bacterial pathogen in the cerebrospinal fluid. A large majority of them are caused by enteroviruses.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2728900/
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/23622323

peripheral retinal degeneration
type: Class
subclass of: DOID 8466
has db xref: ICD10CM:H35.4
has db xref: ICD9CM:362.6
has db xref: NCI:C34919
has db xref: SNOMEDCT_US_2023_03_01:193393004
has db xref: UMLS_CUI:C1320640
has exact synonym: peripheral degeneration of retina
has OBO namespace: disease_ontology
id: DOID:12161
in subset: NCIthesaurus

carpal tunnel syndrome
type: Class
subclass of: DOID 573
IAO_0000115: A nerve compression syndrome characterized by pressure on the median nerve at the wrist resulting in numbness, tingling, pain, and muscle weakness in the hand and forearm.
has db xref: ICD10CM:G56.0
has db xref: ICD9CM:354.0
has db xref: MESH:D002349
has db xref: MIM:PS115430
has db xref: NCI:C34450
has db xref: SNOMEDCT_US_2023_03_01:193126005
has db xref: UMLS_CUI:C0007286
has exact synonym: CTS - Carpal tunnel syndrome
has exact synonym: Median nerve entrapment
has exact synonym: carpal tunnel median neuropathy
has OBO namespace: disease_ontology
id: DOID:12169
in subset: NCIthesaurus

Axiom
annotated source: carpal tunnel syndrome
annotated property: IAO_0000115
annotated target: A nerve compression syndrome characterized by pressure on the median nerve at the wrist resulting in numbness, tingling, pain, and muscle weakness in the hand and forearm.
type: ECO_0007638
type: ECO_0007640
has db xref: url:https://en.wikipedia.org/wiki/Carpal_tunnel_syndrome
has db xref: url:https://medlineplus.gov/ency/article/000433.htm
has db xref: url:https://orthoinfo.aaos.org/en/diseases--conditions/carpal-tunnel-syndrome/

goiter
type: Class
subclass of: DOID 50
IAO_0000115: A thyroid gland disease that involves an abnormal enlargement of the thyroid gland.
has db xref: ICD10CM:E04.9
has db xref: ICD9CM:240.9
has db xref: MESH:D006042
has db xref: NCI:C26785
has db xref: SNOMEDCT_US_2023_03_01:237568003
has db xref: UMLS_CUI:C0018021
has exact synonym: goitre
has OBO namespace: disease_ontology
id: DOID:12176
in subset: NCIthesaurus

Axiom
annotated source: goiter
annotated property: IAO_0000115
annotated target: A thyroid gland disease that involves an abnormal enlargement of the thyroid gland.
type: ECO_0007637
has db xref: url:http://www.thyroid.org/patients/patient_brochures/goiter.html

dengue disease
type: Class
subclass of: DOID 934
IAO_0000115: A viral infectious disease that results in infection, has_material_basis_in Dengue virus (Orthoflavivirus denguei), which are transmitted by Aedes mosquito bite. The infection has symptom fever, has symptom severe headache, has symptom severe pain behind the eyes, has symptom joint pain, has symptom muscle and bone pain, has symptom rash, and has symptom mild bleeding.
has alternative id: DOID:0050142
has db xref: GARD:6254
has db xref: ICD10CM:A90
has db xref: ICD9CM:061
has db xref: MESH:D003715
has db xref: NCI:C34528
has db xref: SNOMEDCT_US_2023_03_01:38362002
has db xref: UMLS_CUI:C0011311
has exact synonym: Dengue Fever
has exact synonym: breakbone fever
has exact synonym: classic dengue
has OBO namespace: disease_ontology
has related synonym: classical dengue
id: DOID:12205
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus
in subset: zoonotic infectious disease

Axiom
annotated source: dengue disease
annotated property: IAO_0000115
annotated target: A viral infectious disease that results in infection, has_material_basis_in Dengue virus (Orthoflavivirus denguei), which are transmitted by Aedes mosquito bite. The infection has symptom fever, has symptom severe headache, has symptom severe pain behind the eyes, has symptom joint pain, has symptom muscle and bone pain, has symptom rash, and has symptom mild bleeding.
type: ECO_0007637
type: ECO_0007643
has db xref: url:https://www.cdc.gov/dengue/about/index.html
has db xref: url:https://www.merriam-webster.com/dictionary/dengue#medicalDictionary
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK430732/

dengue hemorrhagic fever
type: Class
subclass of: dengue disease
IAO_0000115: A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus (Orthoflavivirus denguei) serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever. Four distinct Dengue virus serotypes have been identified.
has db xref: ICD10CM:A91
has db xref: MESH:D019595
has db xref: NCI:C34683
has db xref: SNOMEDCT_US_2023_03_01:20927009
has db xref: UMLS_CUI:C0019100
has exact synonym: DHF
has OBO namespace: disease_ontology
has related synonym: Dengue haemorrhagic fever
id: DOID:12206
in subset: DO infectious disease slim
in subset: NCIthesaurus
in subset: zoonotic infectious disease

Axiom
annotated source: dengue hemorrhagic fever
annotated property: IAO_0000115
annotated target: A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus (Orthoflavivirus denguei) serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever. Four distinct Dengue virus serotypes have been identified.
type: ECO_0007637
type: ECO_0007640
type: ECO_0007643
type: ECO_0007645
has db xref: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC88892/pdf/cm000480.pdf
has db xref: url:http://www.nlm.nih.gov/MEDLINEPLUS/ency/article/001373.htm
has db xref: url:https://www.merriam-webster.com/medical/dengue%20hemorrhagic%20fever

Axiom
annotated source: dengue hemorrhagic fever
annotated property: hasExactSynonym
annotated target: DHF
has synonym type: OMO_0003012

filarial elephantiasis
type: Class
subclass of: filariasis
IAO_0000115: A filariasis that is characterized by the thickening of the skin and underlying tissues, especially in the legs, male genitals and female breasts, caused by thread-like parasitic worms Wuchereria bancrofti, Brugia malayi or Brugia timori, which inhabit the lymphatics. These nematodes are transmitted by mosquitoes. Acute symptoms include fever, lymphadenitis, lymphangitis, funiculitis, and epididymitis. Chronic symptoms include abscesses, hyperkeratosis, polyarthritis, hydroceles, lymphedema, and elephantiasis.
has alternative id: DOID:13433
has db xref: MESH:D004605
has db xref: NCI:C128360
has db xref: SNOMEDCT_US_2023_03_01:240820001
has db xref: UMLS_CUI:C0013884
has exact synonym: Bancroftian elephantiasis
has exact synonym: Bancroftian filarial chyluria
has exact synonym: Lymphatic filariasis
has exact synonym: elephantiasis of eyelid
has OBO namespace: disease_ontology
id: DOID:12211
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: filarial elephantiasis
annotated property: IAO_0000115
annotated target: A filariasis that is characterized by the thickening of the skin and underlying tissues, especially in the legs, male genitals and female breasts, caused by thread-like parasitic worms Wuchereria bancrofti, Brugia malayi or Brugia timori, which inhabit the lymphatics. These nematodes are transmitted by mosquitoes. Acute symptoms include fever, lymphadenitis, lymphangitis, funiculitis, and epididymitis. Chronic symptoms include abscesses, hyperkeratosis, polyarthritis, hydroceles, lymphedema, and elephantiasis.
has db xref: url:https://www.cdc.gov/parasites/lymphaticfilariasis/index.html
has db xref: url:https://www.who.int/news-room/fact-sheets/detail/lymphatic-filariasis

oligohydramnios
type: Class
subclass of: DOID 780
IAO_0000115: A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion.
has alternative id: DOID:12595
has alternative id: DOID:12596
has db xref: ICD10CM:O41.0
has db xref: ICD9CM:658.0
has db xref: MESH:D016104
has db xref: NCI:C92839
has db xref: SNOMEDCT_US_2023_03_01:157051001
has db xref: UMLS_CUI:C0079924
has exact synonym: Oligohydramnios - delivered
has exact synonym: antepartum oligohydramnios
has exact synonym: delivered oligohydramnios
has OBO namespace: disease_ontology
id: DOID:12215
in subset: NCIthesaurus

Axiom
annotated source: oligohydramnios
annotated property: IAO_0000115
annotated target: A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion.
type: ECO_0007643
has db xref: url:http://www.merriam-webster.com/medlineplus/oligohydramnios

Lewy body dementia
type: Class
subclass of: cognitive disorder
IAO_0000115: A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies.
has db xref: GARD:3243
has db xref: ICD10CM:G31.83
has db xref: ICD9CM:331.82
has db xref: MESH:D020961
has db xref: MIM:127750
has db xref: NCI:C84826
has db xref: SNOMEDCT_US_2023_03_01:192808003
has db xref: UMLS_CUI:C0752347
has exact synonym: Dementia with Lewy bodies
has exact synonym: Diffuse Lewy body disease
has exact synonym: Lewy body disease
has exact synonym: Senile dementia of the Lewy body type
has OBO namespace: disease_ontology
id: DOID:12217
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Lewy body dementia
annotated property: IAO_0000115
annotated target: A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Dementia_with_Lewy_bodies
has db xref: url:http://www.mayoclinic.org/diseases-conditions/lewy-body-dementia/basics/definition/CON-20025038

primary biliary cholangitis
type: Class
subclass of: DOID 5082
IAO_0000115: A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.
has alternative id: DOID:1851
has db xref: EFO:0004267
has db xref: GARD:7459
has db xref: ICD10CM:K74.3
has db xref: ICD10CM:K74.5
has db xref: ICD9CM:571.6
has db xref: MESH:D008105
has db xref: MIM:PS109720
has db xref: NCI:C27167
has db xref: NCI:C51225
has db xref: ORDO:186
has db xref: SNOMEDCT_US_2023_03_01:1761006
has db xref: SNOMEDCT_US_2023_03_01:31712002
has db xref: UMLS_CUI:C0008312
has db xref: UMLS_CUI:C0023892
has exact synonym: biliary liver cirrhosis
has exact synonym: cholestatic cirrhosis
has exact synonym: chronic nonsuppurative destructive cholangitis
has exact synonym: primary biliary cirrhosis
has OBO namespace: disease_ontology
id: DOID:12236
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: primary biliary cholangitis
annotated property: IAO_0000115
annotated target: A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Primary_biliary_cirrhosis
has db xref: url:https://www.mayoclinic.org/diseases-conditions/primary-biliary-cholangitis-pbc/symptoms-causes/syc-20376874

anal margin squamous cell carcinoma
type: Class
subclass of: anal margin carcinoma
has db xref: ICD10CM:C44.520
has db xref: NCI:C6925
has db xref: SNOMEDCT_US_2023_03_01:255084004
has db xref: UMLS_CUI:C1412037
has exact synonym: Perianal skin squamous cell carcinoma
has OBO namespace: disease_ontology
id: DOID:12239
in subset: NCIthesaurus

beta thalassemia
type: Class
subclass of: thalassemia
IAO_0000115: A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.
has db xref: GARD:871
has db xref: ICD10CM:D56.1
has db xref: ICD9CM:282.44
has db xref: MESH:D017086
has db xref: MIM:613985
has db xref: NCI:C34375
has db xref: ORDO:848
has db xref: SNOMEDCT_US_2023_03_01:65959000
has db xref: UMLS_CUI:C0005283
has OBO namespace: disease_ontology
id: DOID:12241
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
narrow match: MESH:D017086

Axiom
annotated source: beta thalassemia
annotated property: IAO_0000115
annotated target: A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Beta_thalassemia
has db xref: url:https://ghr.nlm.nih.gov/condition/beta-thalassemia
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/31030806/
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK1426/
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/10395635

testicular lymphoma
type: Class
subclass of: testicular cancer
has db xref: NCI:C6810
has db xref: SNOMEDCT_US_2023_03_01:277664004
has db xref: UMLS_CUI:C0349644
has exact synonym: lymphoma of the testis
has exact synonym: malignant lymphoma of testis
has OBO namespace: disease_ontology
id: DOID:12253
in subset: NCIthesaurus

hemophilia B
type: Class
subclass of: blood coagulation disease
IAO_0000115: A hemophilia that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait.
has db xref: GARD:8732
has db xref: ICD10CM:D67
has db xref: ICD9CM:286.1
has db xref: MESH:D002836
has db xref: MIM:306900
has db xref: NCI:C26721
has db xref: SNOMEDCT_US_2023_03_01:41788008
has db xref: UMLS_CUI:C0008533
has exact synonym: Congenital factor IX deficiency
has exact synonym: Congenital factor IX disorder
has exact synonym: deficiency, functional factor IX
has exact synonym: factor IX deficiency
has OBO namespace: disease_ontology
id: DOID:12259
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: hemophilia B
annotated property: IAO_0000115
annotated target: A hemophilia that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait.
type: ECO_0007640
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/000539.htm

coloboma
type: Class
subclass of: DOID 5614
IAO_0000115: An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.
has db xref: GARD:1433
has db xref: ICD10CM:Q13.0
has db xref: MESH:D003103
has db xref: MIM:120200
has db xref: MIM:120300
has db xref: MIM:216820
has db xref: NCI:C98877
has db xref: ORDO:194
has db xref: ORDO:98945
has db xref: SNOMEDCT_US_2023_03_01:93390002
has db xref: UMLS_CUI:C0009363
has exact synonym: coloboma of eye
has exact synonym: coloboma of macula
has exact synonym: congenital ocular coloboma
has OBO namespace: disease_ontology
id: DOID:12270
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: coloboma
annotated property: IAO_0000115
annotated target: An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Coloboma
has db xref: url:http://ghr.nlm.nih.gov/condition/coloboma

aniridia
type: Class
subclass of: iris disease
IAO_0000115: An iris disease that is characterized by a complete or partial absence of the colored part of the eye.
has db xref: GARD:5816
has db xref: ICD10CM:Q13.1
has db xref: ICD9CM:743.45
has db xref: MESH:D015783
has db xref: MIM:PS106210
has db xref: NCI:C84563
has db xref: ORDO:250923
has db xref: SNOMEDCT_US_2023_03_01:69278003
has db xref: UMLS_CUI:C0003076
has exact synonym: Aplasia of iris
has exact synonym: isolated aniridia
has OBO namespace: disease_ontology
id: DOID:12271
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: aniridia
annotated property: IAO_0000115
annotated target: An iris disease that is characterized by a complete or partial absence of the colored part of the eye.
type: ECO_0007640
has db xref: url:https://medlineplus.gov/genetics/condition/aniridia/

cutaneous diphtheria
type: Class
subclass of: dermatitis
IAO_0000115: A pyoderma that is a milder form of diphtheria restricted to the skin producing shallow skin ulcers is caused by direct physical contact of indivduals infected with Corynebacterium diphtheriae as the bacteria releases the diphtheria toxin.
has db xref: ICD10CM:A36.3
has db xref: ICD9CM:032.85
has db xref: NCI:C34544
has db xref: SNOMEDCT_US_2023_03_01:18901009
has db xref: UMLS_CUI:C0012555
has OBO namespace: disease_ontology
id: DOID:12275
in subset: NCIthesaurus

Axiom
annotated source: cutaneous diphtheria
annotated property: IAO_0000115
annotated target: A pyoderma that is a milder form of diphtheria restricted to the skin producing shallow skin ulcers is caused by direct physical contact of indivduals infected with Corynebacterium diphtheriae as the bacteria releases the diphtheria toxin.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007646
has db xref: url:http://en.wikipedia.org/wiki/Diphtheria
has db xref: url:http://www.merck.com/mmpe/sec14/ch172/ch172c.html
has db xref: url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A1746

testicular leukemia
type: Class
subclass of: testicular cancer
has db xref: NCI:C9277
has db xref: UMLS_CUI:C1336711
has OBO namespace: disease_ontology
id: DOID:12286
in subset: NCIthesaurus

Crimean-Congo hemorrhagic fever
type: Class
subclass of: DOID 934
IAO_0000115: A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Crimean-Congo haemorrhagic fever virus (Orthonairovirus haemorrhagiae), which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine.
has db xref: ICD10CM:A98.0
has db xref: ICD9CM:065.0
has db xref: MESH:D006479
has db xref: NCI:C34682
has db xref: SNOMEDCT_US_2023_03_01:43489008
has db xref: UMLS_CUI:C0019099
has exact synonym: CHF Congo virus
has exact synonym: Congo-Crimean Hemorrhagic Fever
has exact synonym: Crimean hemorrhagic fever
has OBO namespace: disease_ontology
id: DOID:12287
in subset: DO infectious disease slim
in subset: NCIthesaurus
in subset: tick-borne infectious disease
in subset: zoonotic infectious disease

Axiom
annotated source: Crimean-Congo hemorrhagic fever
annotated property: IAO_0000115
annotated target: A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Crimean-Congo haemorrhagic fever virus (Orthonairovirus haemorrhagiae), which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine.
type: ECO_0007637
has db xref: url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/cchf.htm
has db xref: url:http://www.who.int/mediacentre/factsheets/fs208/en/

paranoid schizophrenia
type: Class
subclass of: DOID 5419
IAO_0000115: A schizophrenia characterized by delusions or auditory hallucinations of persecution or being plotted against without thought disorder, disorganized behavior, or affective flattening.
has alternative id: DOID:11238
has alternative id: DOID:1230
has db xref: ICD10CM:F20.0
has db xref: ICD9CM:295.3
has db xref: ICD9CM:295.32
has db xref: MESH:D012563
has db xref: NCI:C35006
has db xref: SNOMEDCT_US_2023_03_01:154865007
has db xref: SNOMEDCT_US_2023_03_01:191553009
has db xref: UMLS_CUI:C0036349
has db xref: UMLS_CUI:C0270398
has exact synonym: Paranoid type schizophrenia
has exact synonym: Paraphrenia - late
has exact synonym: Paraphrenic schizophrenia
has exact synonym: chronic paranoid schizophrenia
has exact synonym: paranoid type schizophrenia subchronic state
has OBO namespace: disease_ontology
id: DOID:1229
in subset: NCIthesaurus

Axiom
annotated source: paranoid schizophrenia
annotated property: IAO_0000115
annotated target: A schizophrenia characterized by delusions or auditory hallucinations of persecution or being plotted against without thought disorder, disorganized behavior, or affective flattening.
type: ECO_0007638
type: ECO_0007640
has db xref: url:http://en.wikipedia.org/wiki/Paranoid_schizophrenia
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/000936.htm

Vogt-Koyanagi-Harada disease
type: Class
subclass of: disease
IAO_0000115: 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.
has db xref: GARD:7862
has db xref: ICD10CM:H20.82
has db xref: ICD9CM:364.24
has db xref: MESH:D014607
has db xref: NCI:C85218
has db xref: SNOMEDCT_US_2023_03_01:44923005
has db xref: UMLS_CUI:C0042170
has exact synonym: Harada's disease
has exact synonym: Vogt-Koyanagi syndrome
has exact synonym: uveomeningoencephalitic syndrome
has OBO namespace: disease_ontology
id: DOID:12297
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Vogt-Koyanagi-Harada disease
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Vogt%E2%80%93Koyanagi%E2%80%93Harada_syndrome
comment: ls:IEDB

Bloch-Sulzberger syndrome
type: Class
subclass of: skin disease
has db xref: ICD10CM:Q82.3
has db xref: MESH:D007184
has db xref: MIM:308300
has db xref: NCI:C84787
has db xref: SNOMEDCT_US_2023_03_01:205567005
has db xref: UMLS_CUI:C0021171
has exact synonym: Incontinentia pigmenti
has exact synonym: Incontinentia pigmenti syndrome
has OBO namespace: disease_ontology
id: DOID:12305
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

vitiligo
type: Class
subclass of: disease
IAO_0000115: An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.
has db xref: EFO:0004208
has db xref: GARD:10751
has db xref: ICD10CM:L80
has db xref: ICD9CM:709.01
has db xref: MESH:D014820
has db xref: MIM:193200
has db xref: NCI:C26915
has db xref: SNOMEDCT_US_2023_03_01:156437000
has db xref: UMLS_CUI:C0042900
has OBO namespace: disease_ontology
id: DOID:12306
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: vitiligo
annotated property: IAO_0000115
annotated target: An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Vitiligo
comment: ls:IEDB

Dubin-Johnson syndrome
type: Class
subclass of: bilirubin metabolic disorder
IAO_0000115: A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile.
has db xref: GARD:6289
has db xref: ICD10CM:E80.6
has db xref: MESH:D007566
has db xref: MIM:237500
has db xref: NCI:C34741
has db xref: SNOMEDCT_US_2023_03_01:44553005
has db xref: UMLS_CUI:C0022350
has exact synonym: Dubin Johnson syndrome
has exact synonym: chronic idiopathic jaundice
has OBO namespace: disease_ontology
id: DOID:12308
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Dubin-Johnson syndrome
annotated property: IAO_0000115
annotated target: A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Dubin-Johnson_syndrome

urticaria pigmentosa
type: Class
subclass of: cutaneous mastocytosis
has db xref: ICD10CM:D47.01
has db xref: MESH:D014582
has db xref: NCI:C3433
has db xref: SNOMEDCT_US_2023_03_01:205566001
has db xref: UMLS_CUI:C0042111
has exact synonym: UP/MPCM
has OBO namespace: disease_ontology
id: DOID:12309
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: urticaria pigmentosa
annotated property: hasExactSynonym
annotated target: UP/MPCM
has synonym type: OMO_0003012

granular corneal dystrophy
type: Class
subclass of: corneal dystrophy
IAO_0000115: An epithelial-stromal TGFBI dystrophy that is characterized by progressive accumulation of deposits within the layers of the cornea.
has db xref: ICD10CM:H18.53
has db xref: ICD9CM:371.53
has db xref: MESH:D003317
has db xref: NCI:C34651
has db xref: SNOMEDCT_US_2023_03_01:45283008
has db xref: UMLS_CUI:C0018179
has OBO namespace: disease_ontology
id: DOID:12318
in subset: NCIthesaurus

Axiom
annotated source: granular corneal dystrophy
annotated property: IAO_0000115
annotated target: An epithelial-stromal TGFBI dystrophy that is characterized by progressive accumulation of deposits within the layers of the cornea.
type: ECO_0007645
has db xref: url:https://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm

transvestism
type: Class
subclass of: fetishism
has db xref: ICD10CM:F64.1
has db xref: ICD9CM:302.3
has db xref: MESH:D014190
has db xref: NCI:C94359
has db xref: SNOMEDCT_US_2023_03_01:472948001
has db xref: UMLS_CUI:C0040774
has exact synonym: Dual-role transvestism
has exact synonym: Fetishistic transvestism
has exact synonym: Transvestic fetishism
has exact synonym: cross dresser
has OBO namespace: disease_ontology
id: DOID:1233
in subset: NCIthesaurus

retroperitoneal lymphoma
type: Class
subclass of: DOID 5875
has db xref: NCI:C7353
has db xref: UMLS_CUI:C1335779
has OBO namespace: disease_ontology
id: DOID:12339
in subset: NCIthesaurus

retroperitoneal sarcoma
type: Class
subclass of: DOID 5875
IAO_0000115: A malignant retroperitoneal cancer and sarcoma that is located_in the retroperitoneal space.
has db xref: NCI:C4832
has db xref: SNOMEDCT_US_2023_03_01:307219002
has db xref: UMLS_CUI:C0585129
has OBO namespace: disease_ontology
id: DOID:12341
in subset: NCIthesaurus

Axiom
annotated source: retroperitoneal sarcoma
annotated property: IAO_0000115
annotated target: A malignant retroperitoneal cancer and sarcoma that is located_in the retroperitoneal space.
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/Retroperitoneal_space
has db xref: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1665230/

retroperitoneum carcinoma
type: Class
subclass of: DOID 5875
has db xref: NCI:C7352
has db xref: UMLS_CUI:C0948749
has exact synonym: carcinoma of Retroperitoneum
has OBO namespace: disease_ontology
has related synonym: carcinoma of the retroperitoneum
id: DOID:12342
in subset: NCIthesaurus

osteogenesis imperfecta
type: Class
subclass of: osteochondrodysplasia
IAO_0000115: An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue.
has alternative id: DOID:14708
has db xref: GARD:1017
has db xref: ICD10CM:Q78.0
has db xref: ICD9CM:756.51
has db xref: MESH:D010013
has db xref: MIM:PS166200
has db xref: NCI:C26837
has db xref: ORDO:666
has db xref: SNOMEDCT_US_2023_03_01:254109004
has db xref: UMLS_CUI:C0029434
has exact synonym: Lobstein's syndrome
has exact synonym: Osteopsathyrosis
has exact synonym: Vrolik's disease
has exact synonym: brittle bone disease
has OBO namespace: disease_ontology
has related synonym: Fragilitas ossium
id: DOID:12347
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: osteogenesis imperfecta
annotated property: IAO_0000115
annotated target: An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007640
has db xref: url:http://en.wikipedia.org/wiki/Osteogenesis_imperfecta
has db xref: url:http://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta
has db xref: url:http://orthoinfo.aaos.org/topic.cfm?topic=a00051
has db xref: url:http://osteogenesisimperfecta.org/
has db xref: url:http://www.niams.nih.gov/Health_Info/bone/osteogenesis_Imperfecta/
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/001573.htm

fetishism
type: Class
subclass of: disease of mental health
has db xref: ICD10CM:F65.0
has db xref: ICD9CM:302.81
has db xref: MESH:D005329
has db xref: NCI:C94353
has db xref: SNOMEDCT_US_2023_03_01:192513009
has db xref: UMLS_CUI:C0015957
has OBO namespace: disease_ontology
id: DOID:1235
in subset: NCIthesaurus

alcoholic hepatitis
type: Class
subclass of: hepatitis
has alternative id: DOID:12350
has db xref: ICD9CM:571.1
has db xref: NCI:C34352
has db xref: SNOMEDCT_US_2023_03_01:9953008
has db xref: UMLS_CUI:C0001306
has exact synonym: acute alcoholic hepatitis
has exact synonym: acute alcoholic liver disease
has OBO namespace: disease_ontology
id: DOID:12351
in subset: NCIthesaurus

Graves' disease
type: Class
subclass of: disease
IAO_0000115: An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.
has db xref: EFO:0004237
has db xref: ICD10CM:E05.0
has db xref: MESH:D006111
has db xref: MIM:275000
has db xref: NCI:C3071
has db xref: SNOMEDCT_US_2023_03_01:154655004
has db xref: UMLS_CUI:C0018213
has exact synonym: Grave's disease
has exact synonym: Graves disease
has exact synonym: exophthalmic goiter
has OBO namespace: disease_ontology
has related synonym: Basedow's disease
id: DOID:12361
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Graves' disease
annotated property: IAO_0000115
annotated target: An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Graves_disease

malaria
type: Class
subclass of: parasitic protozoa infectious disease
IAO_0000115: 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.
has alternative id: DOID:12552
has db xref: EFO:0001068
has db xref: GARD:6961
has db xref: ICD10CM:B54
has db xref: ICD9CM:084
has db xref: MESH:D008288
has db xref: NCI:C34797
has db xref: ORDO:673
has db xref: SNOMEDCT_US_2023_03_01:154374002
has db xref: UMLS_CUI:C0024530
has exact synonym: induced malaria
has OBO namespace: disease_ontology
id: DOID:12365
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: malaria
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007638
type: ECO_0007643
has db xref: url:http://en.wikipedia.org/wiki/Malaria
has db xref: url:https://www.merriam-webster.com/dictionary/malaria#medicalDictionary

bronchopneumonia
type: Class
subclass of: DOID 552
IAO_0000115: A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses.
has db xref: ICD10CM:J18.0
has db xref: ICD9CM:485
has db xref: MESH:D001996
has db xref: NCI:C26710
has db xref: SNOMEDCT_US_2023_03_01:155551009
has db xref: UMLS_CUI:C0006285
has exact synonym: Chest infection - bronchopneumonia
has exact synonym: bronchial pneumonia
has exact synonym: lobular pneumonia
has OBO namespace: disease_ontology
id: DOID:12375
in subset: NCIthesaurus

Axiom
annotated source: bronchopneumonia
annotated property: IAO_0000115
annotated target: A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses.
type: ECO_0007643
has db xref: url:https://www.merriam-webster.com/dictionary/bronchopneumonia#medicalDictionary

juvenile spinal muscular atrophy
type: Class
subclass of: childhood spinal muscular atrophy
IAO_0000115: A childhood spinal muscular atrophy that has age of onset after 18 months and is characterized by muscle weakness after early childhood and the ability to stand and walk and that has_material_basis_in homozygous or compound heterozygous mutation in the SMN1 gene on chromosome 5q13.
has alternative id: DOID:13161
has db xref: ICD9CM:335.11
has db xref: MESH:D014897
has db xref: MIM:253400
has db xref: NCI:C118847
has db xref: SNOMEDCT_US_2023_03_01:54280009
has db xref: UMLS_CUI:C0152109
has exact synonym: Kugelberg-Welander disease
has exact synonym: SMA3
has exact synonym: Spinal Muscular Atrophy Type 3
has exact synonym: Type III Spinal Muscular Atrophy
has OBO namespace: disease_ontology
id: DOID:12376
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: juvenile spinal muscular atrophy
annotated property: IAO_0000115
annotated target: A childhood spinal muscular atrophy that has age of onset after 18 months and is characterized by muscle weakness after early childhood and the ability to stand and walk and that has_material_basis_in homozygous or compound heterozygous mutation in the SMN1 gene on chromosome 5q13.
has db xref: url:https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy

Axiom
annotated source: juvenile spinal muscular atrophy
annotated property: hasExactSynonym
annotated target: SMA3
has synonym type: OMO_0003012

spinal muscular atrophy
type: Class
subclass of: neurodegenerative disease
IAO_0000115: A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy.
has db xref: GARD:7674
has db xref: ICD10CM:G12.9
has db xref: ICD9CM:335.1
has db xref: MESH:D009134
has db xref: NCI:C85075
has db xref: SNOMEDCT_US_2023_03_01:5262007
has db xref: UMLS_CUI:C0026847
has OBO namespace: disease_ontology
id: DOID:12377
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: spinal muscular atrophy
annotated property: IAO_0000115
annotated target: A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy.
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/Spinal_muscular_atrophy
has db xref: url:https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy
has db xref: url:https://www.genome.gov/Genetic-Disorders/Spinal-Muscular-Atrophy
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/26022173

shigellosis
type: Class
subclass of: bacterial infectious disease
IAO_0000115: A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces.
has alternative id: DOID:11378
has alternative id: DOID:12950
has alternative id: DOID:2041
has alternative id: DOID:924
has alternative id: DOID:925
has db xref: GARD:4818
has db xref: ICD10CM:A03
has db xref: ICD10CM:A03.0
has db xref: ICD10CM:A03.1
has db xref: ICD10CM:A03.2
has db xref: ICD9CM:004
has db xref: ICD9CM:004.0
has db xref: ICD9CM:004.1
has db xref: ICD9CM:004.2
has db xref: KEGG:05131
has db xref: MESH:D004405
has db xref: NCI:C157978
has db xref: SNOMEDCT_US_2023_03_01:111817006
has db xref: SNOMEDCT_US_2023_03_01:34335000
has db xref: SNOMEDCT_US_2023_03_01:55760004
has db xref: SNOMEDCT_US_2023_03_01:66301008
has db xref: UMLS_CUI:C0013371
has db xref: UMLS_CUI:C0302358
has db xref: UMLS_CUI:C0302359
has db xref: UMLS_CUI:C0302360
has exact synonym: Shigella boydii infectious disease
has exact synonym: Shigella flexneri infectious disease
has exact synonym: Shigella gastroenteritis
has exact synonym: Shigella sonnei infectious disease
has exact synonym: bacillary dysentery
has OBO namespace: disease_ontology
id: DOID:12385
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: shigellosis
annotated property: IAO_0000115
annotated target: A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces.
type: ECO_0007637
has db xref: url:http://www.merck.com/mmpe/sec14/ch173/ch173q.html?qt=shigellosis&alt=sh

balantidiasis
type: Class
subclass of: parasitic protozoa infectious disease
IAO_0000115: A parasitic protozoa infectious disease involving infection caused by Balantidium coli. The trophozoites are capable of attacking the intestinal epithelium, creating ulcers and causing bloody diarrhea. The infectiou has_symptom cramping, has_symptom abdominal pain, has_symptom nausea and has_symptom foul breath.
has db xref: GARD:809
has db xref: ICD10CM:A07.0
has db xref: ICD9CM:007.0
has db xref: MESH:D001447
has db xref: NCI:C84583
has db xref: SNOMEDCT_US_2023_03_01:57725006
has db xref: UMLS_CUI:C0004692
has OBO namespace: disease_ontology
id: DOID:12386
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: balantidiasis
annotated property: IAO_0000115
annotated target: A parasitic protozoa infectious disease involving infection caused by Balantidium coli. The trophozoites are capable of attacking the intestinal epithelium, creating ulcers and causing bloody diarrhea. The infectiou has_symptom cramping, has_symptom abdominal pain, has_symptom nausea and has_symptom foul breath.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/14760781

nephrogenic diabetes insipidus
type: Class
subclass of: DOID 9409
IAO_0000115: A diabetes insipidus that is characterized by a complete or partial resistance of the kidneys to vasopressin (ADH).
has db xref: GARD:7178
has db xref: ICD10CM:N25.1
has db xref: ICD9CM:588.1
has db xref: MESH:D018500
has db xref: NCI:C84919
has db xref: ORDO:223
has db xref: SNOMEDCT_US_2023_03_01:123294004
has db xref: UMLS_CUI:C0162283
has OBO namespace: disease_ontology
has related synonym: vasopressin-resistant diabetes insipidus
id: DOID:12387
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS].

Axiom
annotated source: nephrogenic diabetes insipidus
annotated property: IAO_0000115
annotated target: A diabetes insipidus that is characterized by a complete or partial resistance of the kidneys to vasopressin (ADH).
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Nephrogenic_diabetes_insipidus
has db xref: url:http://ghr.nlm.nih.gov/condition/nephrogenic-diabetes-insipidus
has db xref: url:https://medlineplus.gov/ency/article/000511.htm

neurohypophyseal diabetes insipidus
type: Class
subclass of: DOID 9409
IAO_0000115: A central diabetes insipidus that is characterized by polyuria and polydipsia due to a deficiency in vasopressin synthesis and that has_material_basis_in heterozygous mutation in the arginine vasopressin gene (AVP) on chromosome 20p13.
has db xref: MESH:D020790
has db xref: MIM:125700
has db xref: NCI:C84933
has db xref: ORDO:30925
has db xref: SNOMEDCT_US_2023_03_01:267393007
has db xref: UMLS_CUI:C0687720
has exact synonym: Pituitary diabetes insipidus
has exact synonym: Vasopressin deficiency
has exact synonym: vasopressin defective diabetes insipidus
has OBO namespace: disease_ontology
id: DOID:12388
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: neurohypophyseal diabetes insipidus
annotated property: IAO_0000115
annotated target: A central diabetes insipidus that is characterized by polyuria and polydipsia due to a deficiency in vasopressin synthesis and that has_material_basis_in heterozygous mutation in the arginine vasopressin gene (AVP) on chromosome 20p13.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/15070970/

pathological gambling
type: Class
subclass of: impulse control disorder
IAO_0000115: An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life.
has db xref: ICD10CM:F63.0
has db xref: ICD9CM:312.31
has db xref: MESH:D005715
has db xref: MIM:606349
has db xref: NCI:C94335
has db xref: SNOMEDCT_US_2023_03_01:18085000
has db xref: UMLS_CUI:C0030662
has exact synonym: Compulsive gambling
has OBO namespace: disease_ontology
id: DOID:12399
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: pathological gambling
annotated property: IAO_0000115
annotated target: An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3004711/

leukemia
type: Class
subclass of: hematologic cancer
IAO_0000115: A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.
has alternative id: DOID:9145
has db xref: ICD10CM:C95.90
has db xref: ICD9CM:208
has db xref: ICDO:9800/3
has db xref: MESH:D007938
has db xref: NCI:C3161
has db xref: SNOMEDCT_US_2023_03_01:255049003
has db xref: UMLS_CUI:C0023418
has OBO namespace: disease_ontology
id: DOID:1240
in subset: DO RAD slim
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: leukemia
annotated property: IAO_0000115
annotated target: A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007641
has db xref: url:http://en.wikipedia.org/wiki/Leukemia
has db xref: url:http://www.cancer.gov/dictionary?CdrID=45343

kleptomania
type: Class
subclass of: impulse control disorder
IAO_0000115: An impulse control disorder that involves the repeated impulse to steal for no great gain, when he or she has sufficient money to pay for the item and no need for what is stolen.
has db xref: ICD10CM:F63.2
has db xref: ICD9CM:312.32
has db xref: MESH:D007174
has db xref: NCI:C94333
has db xref: SNOMEDCT_US_2023_03_01:69361009
has db xref: UMLS_CUI:C0022734
has exact synonym: Pathological stealing
has OBO namespace: disease_ontology
id: DOID:12400
in subset: NCIthesaurus

Axiom
annotated source: kleptomania
annotated property: IAO_0000115
annotated target: An impulse control disorder that involves the repeated impulse to steal for no great gain, when he or she has sufficient money to pay for the item and no need for what is stolen.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Kleptomania

intermittent explosive disorder
type: Class
subclass of: impulse control disorder
IAO_0000115: An impulse control disorder that involves the episodic inability to control violent impulses with a disproportionate degree of aggressiveness.
has alternative id: DOID:9404
has db xref: ICD10CM:F60.3
has db xref: ICD10CM:F63.81
has db xref: ICD9CM:301.3
has db xref: ICD9CM:312.34
has db xref: MESH:D007174
has db xref: NCI:C94332
has db xref: SNOMEDCT_US_2023_03_01:192096007
has db xref: SNOMEDCT_US_2023_03_01:268757006
has db xref: UMLS_CUI:C0021776
has db xref: UMLS_CUI:C0152183
has exact synonym: explosive personality disorder
has OBO namespace: disease_ontology
id: DOID:12401
in subset: NCIthesaurus

Axiom
annotated source: intermittent explosive disorder
annotated property: IAO_0000115
annotated target: An impulse control disorder that involves the episodic inability to control violent impulses with a disproportionate degree of aggressiveness.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Intermittent_explosive_disorder

pyromania
type: Class
subclass of: impulse control disorder
IAO_0000115: An impulse control disorder that involves the uncontrollable impulse to repeatedly set fires with no obvious motive.
has db xref: ICD10CM:F63.1
has db xref: ICD9CM:312.33
has db xref: MESH:D005391
has db xref: NCI:C94334
has db xref: SNOMEDCT_US_2023_03_01:600009
has db xref: UMLS_CUI:C0016142
has exact synonym: Pathological firesetting
has exact synonym: firesetting behavior
has OBO namespace: disease_ontology
id: DOID:12402
in subset: NCIthesaurus

Axiom
annotated source: pyromania
annotated property: IAO_0000115
annotated target: An impulse control disorder that involves the uncontrollable impulse to repeatedly set fires with no obvious motive.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Pyromania

labia minora cancer
type: Class
subclass of: vulva cancer
IAO_0000115: A vulva cancer that is located_in the labium minora.
has db xref: ICD10CM:C51.1
has db xref: ICD9CM:184.2
has db xref: NCI:C7637
has db xref: SNOMEDCT_US_2023_03_01:93851005
has db xref: UMLS_CUI:C0496815
has exact synonym: malignant neoplasm of labia minora
has exact synonym: malignant neoplasm of labium minus
has exact synonym: malignant tumor of Labia Minora
has OBO namespace: disease_ontology
id: DOID:1243
in subset: NCIthesaurus

Axiom
annotated source: labia minora cancer
annotated property: IAO_0000115
annotated target: A vulva cancer that is located_in the labium minora.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/13103721
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/24113413

aplastic anemia
type: Class
subclass of: DOID 720
IAO_0000115: A normocytic anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow.
has db xref: GARD:5836
has db xref: ICD10CM:D61.9
has db xref: ICD9CM:284.9
has db xref: MESH:D000741
has db xref: MIM:609135
has db xref: NCI:C2870
has db xref: SNOMEDCT_US_2023_03_01:154807001
has db xref: UMLS_CUI:C0002874
has OBO namespace: disease_ontology
id: DOID:12449
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: aplastic anemia
annotated property: IAO_0000115
annotated target: A normocytic anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Aplastic_anemia
has db xref: url:http://www.nhlbi.nih.gov/health/health-topics/topics/aplastic/

vulva cancer
type: Class
subclass of: female reproductive organ cancer
IAO_0000115: A female reproductive organ cancer that is located_in the vulva.
has alternative id: DOID:1282
has db xref: GARD:9349
has db xref: ICD10CM:C51
has db xref: ICD9CM:184.4
has db xref: MESH:D014846
has db xref: NCI:C3443
has db xref: NCI:C7502
has db xref: SNOMEDCT_US_2023_03_01:126922007
has db xref: SNOMEDCT_US_2023_03_01:94143002
has db xref: UMLS_CUI:C0042995
has db xref: UMLS_CUI:C0375071
has exact synonym: Ca vulva
has exact synonym: Vulvar tumor
has exact synonym: malignant Vulvar tumor
has exact synonym: malignant neoplasm of vulva
has exact synonym: malignant tumor of vulva
has exact synonym: neoplasm of vulva
has exact synonym: vulval cancer
has exact synonym: vulval neoplasm
has exact synonym: vulvar neoplasm
has OBO namespace: disease_ontology
id: DOID:1245
in subset: DO rare slim
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim

Axiom
annotated source: vulva cancer
annotated property: IAO_0000115
annotated target: A female reproductive organ cancer that is located_in the vulva.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Vulvar_cancer

pancytopenia
type: Class
subclass of: anemia
IAO_0000115: An anemia that is characterized by a reduction in the number of red blood cells, white blood cells, and platelets.
has db xref: ICD10CM:D61.81
has db xref: ICD9CM:284.1
has db xref: MESH:D010198
has db xref: NCI:C34889
has db xref: SNOMEDCT_US_2023_03_01:127034005
has db xref: UMLS_CUI:C0030312
has OBO namespace: disease_ontology
id: DOID:12450
in subset: NCIthesaurus

Axiom
annotated source: pancytopenia
annotated property: IAO_0000115
annotated target: An anemia that is characterized by a reduction in the number of red blood cells, white blood cells, and platelets.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Pancytopenia

secondary hyperparathyroidism
type: Class
subclass of: hyperparathyroidism
has db xref: MESH:D006962
has db xref: NCI:C113335
has db xref: SNOMEDCT_US_2023_03_01:91478007
has db xref: UMLS_CUI:C0020503
has OBO namespace: disease_ontology
id: DOID:12466
in subset: NCIthesaurus

blood coagulation disease
type: Class
subclass of: DOID 74
IAO_0000115: A hematopoietic system disease that is characterized by abnormal blood clotting or bleeding.
has alternative id: DOID:13997
has alternative id: DOID:2212
has alternative id: DOID:9474
has db xref: ICD10CM:D68.9
has db xref: ICD9CM:286
has db xref: MESH:D001778
has db xref: NCI:C2902
has db xref: SNOMEDCT_US_2023_03_01:64779008
has db xref: UMLS_CUI:C0005779
has exact synonym: coagulation protein disease
has exact synonym: postpartum coagulation defect
has exact synonym: postpartum coagulation defect with delivery
has narrow synonym: inherited blood coagulation disease
has OBO namespace: disease_ontology
id: DOID:1247
in subset: DO RAD slim
in subset: NCIthesaurus

Axiom
annotated source: blood coagulation disease
annotated property: IAO_0000115
annotated target: A hematopoietic system disease that is characterized by abnormal blood clotting or bleeding.
has db xref: url:https://www.cedars-sinai.edu/Patients/Health-Conditions/Coagulation-System-Disorders.aspx

Vagus nerve disease
type: Class
subclass of: DOID 5656
has db xref: ICD10CM:G52.2
has db xref: ICD9CM:352.3
has db xref: MESH:D020421
has db xref: NCI:C27591
has db xref: SNOMEDCT_US_2023_03_01:73765005
has db xref: UMLS_CUI:C0152179
has exact synonym: Vagus nerve disorder
has exact synonym: disorder of pneumogastric [10th] nerve
has exact synonym: disorder of vagal nerve
has exact synonym: disorder of vagus nerve
has OBO namespace: disease_ontology
id: DOID:12491
in subset: NCIthesaurus

vagina leiomyoma
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A vaginal benign neoplasm that is a benign tumor of smooth muscle cells.
has db xref: NCI:C6373
has db xref: UMLS_CUI:C1336939
has exact synonym: leiomyoma of vagina
has OBO namespace: disease_ontology
id: DOID:125
in subset: NCIthesaurus

Axiom
annotated source: vagina leiomyoma
annotated property: IAO_0000115
annotated target: A vaginal benign neoplasm that is a benign tumor of smooth muscle cells.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/25672089

retinal perforation
type: Class
subclass of: DOID 5327
has db xref: MESH:D012167
has db xref: NCI:C50732
has db xref: SNOMEDCT_US_2023_03_01:40024006
has db xref: UMLS_CUI:C0035321
has exact synonym: Retinal break
has exact synonym: Retinal dialysis
has exact synonym: Retinal tear
has OBO namespace: disease_ontology
id: DOID:12514
in subset: NCIthesaurus

trichuriasis
type: Class
subclass of: DOID 883
IAO_0000115: A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation.
has db xref: GARD:10720
has db xref: MESH:D014257
has db xref: NCI:C128399
has db xref: SNOMEDCT_US_2023_03_01:60570001
has db xref: UMLS_CUI:C0040954
has exact synonym: Infection by Trichuris trichura
has exact synonym: Trichuriasis infection
has exact synonym: Whipworm disease
has exact synonym: trichuris trichiura infection
has OBO namespace: disease_ontology
id: DOID:1252
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: trichuriasis
annotated property: IAO_0000115
annotated target: A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Trichuriasis
has db xref: url:http://www.dpd.cdc.gov/dpdx/HTML/Trichuriasis.htm

bagassosis
type: Class
subclass of: DOID 841
IAO_0000115: An extrinsic allergic alveolitis that is an industrial disease characterized by cough, difficult breathing, chills, fever, and prolonged weakness caused by the inhalation of the dust of bagasse containing thermophilic actinomycetes.
has db xref: ICD10CM:J67.1
has db xref: ICD9CM:495.1
has db xref: MESH:D011009
has db xref: NCI:C34409
has db xref: SNOMEDCT_US_2023_03_01:67242002
has db xref: UMLS_CUI:C0004681
has exact synonym: sugar cane worker pneumonitis
has OBO namespace: disease_ontology
id: DOID:12522
in subset: NCIthesaurus

Axiom
annotated source: bagassosis
annotated property: IAO_0000115
annotated target: An extrinsic allergic alveolitis that is an industrial disease characterized by cough, difficult breathing, chills, fever, and prolonged weakness caused by the inhalation of the dust of bagasse containing thermophilic actinomycetes.
type: ECO_0007643
has db xref: url:http://www.merriam-webster.com/medical/bagassosis

tarsal tunnel syndrome
type: Class
subclass of: DOID 870
has db xref: GARD:7733
has db xref: ICD10CM:G57.5
has db xref: ICD9CM:355.5
has db xref: MESH:D013641
has db xref: NCI:C85183
has db xref: SNOMEDCT_US_2023_03_01:155077008
has db xref: UMLS_CUI:C0039319
has OBO namespace: disease_ontology
id: DOID:12526
in subset: DO rare slim
in subset: NCIthesaurus

von Willebrand's disease
type: Class
subclass of: blood coagulation disease
IAO_0000115: A hemophilia that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion.
has db xref: GARD:7867
has db xref: ICD10CM:D68.0
has db xref: ICD9CM:286.4
has db xref: MESH:D014842
has db xref: NCI:C68677
has db xref: SNOMEDCT_US_2023_03_01:11093006
has db xref: UMLS_CUI:C0042974
has exact synonym: vascular hemophilia
has exact synonym: vascular pseudohemophilia
has exact synonym: von Willebrand disease
has exact synonym: von Willebrand disorder
has exact synonym: von Willebrand's-Jurgens' disease
has exact synonym: von Willebrand-Jrgens disease
has OBO namespace: disease_ontology
id: DOID:12531
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: von Willebrand's disease
annotated property: IAO_0000115
annotated target: A hemophilia that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Von_Willebrand_disease
has db xref: url:http://ghr.nlm.nih.gov/condition/von-willebrand-disease

hepatitis A
type: Class
subclass of: hepatitis
IAO_0000115: A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus (Hepatovirus ahepa), which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.
has alternative id: DOID:12547
has db xref: MESH:D006506
has db xref: NCI:C3096
has db xref: SNOMEDCT_US_2023_03_01:40468003
has db xref: UMLS_CUI:C0019159
has exact synonym: Viral hepatitis, type A
has OBO namespace: disease_ontology
has related synonym: Viral hepatitis A
id: DOID:12549
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: hepatitis A
annotated property: IAO_0000115
annotated target: A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus (Hepatovirus ahepa), which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.
type: ECO_0007637
has db xref: url:http://www.cdc.gov/hepatitis/Resources/Professionals/PDFs/ABCTable.pdf
has db xref: url:https://www.cdc.gov/hepatitis-a/
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK459290/

hemolytic-uremic syndrome
type: Class
subclass of: DOID 557
IAO_0000115: A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs.
has db xref: GARD:6588
has db xref: ICD10CM:D59.3
has db xref: ICD9CM:283.11
has db xref: MESH:D006463
has db xref: NCI:C75545
has db xref: ORDO:2134
has db xref: SNOMEDCT_US_2023_03_01:123308008
has db xref: UMLS_CUI:C0019061
has exact synonym: haemolytic-uraemic syndrome
has exact synonym: hemolytic uremic syndrome
has OBO namespace: disease_ontology
id: DOID:12554
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: hemolytic-uremic syndrome
annotated property: IAO_0000115
annotated target: A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs.
type: ECO_0007638
type: ECO_0007645
type: ECO_0007646
has db xref: url:https://en.wikipedia.org/wiki/Hemolytic-uremic_syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK1367/
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/15728781

acute kidney tubular necrosis
type: Class
subclass of: kidney failure
IAO_0000115: An acute kidney failure that is characterized by necrosis of epithelial tubule cells.
has db xref: ICD10CM:N17.0
has db xref: MESH:D007683
has db xref: NCI:C34749
has db xref: SNOMEDCT_US_2023_03_01:23697004
has db xref: UMLS_CUI:C0022672
has exact synonym: ATN - acute tubular necrosis
has exact synonym: acute renal Failure with tubular necrosis
has exact synonym: acute renal failure with lesion of tubular necrosis
has exact synonym: acute tubular necrosis
has exact synonym: acute tubule necrosis
has OBO namespace: disease_ontology
id: DOID:12556
in subset: NCIthesaurus

Axiom
annotated source: acute kidney tubular necrosis
annotated property: IAO_0000115
annotated target: An acute kidney failure that is characterized by necrosis of epithelial tubule cells.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1904420/

Duane retraction syndrome
type: Class
subclass of: DOID 5656
subclass of: DOID 9835
IAO_0000115: A strabismus characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction, or both, and narrowing of the palpebral fissure and retraction of the globe on attempted adduction.
has db xref: ICD10CM:H50.81
has db xref: ICD9CM:378.71
has db xref: MESH:D004370
has db xref: MIM:PS126800
has db xref: NCI:C84678
has db xref: ORDO:233
has db xref: SNOMEDCT_US_2023_03_01:60318001
has db xref: UMLS_CUI:C0013261
has exact synonym: Duane's syndrome
has exact synonym: Stilling-Turk-Duane syndrome
has OBO namespace: disease_ontology
id: DOID:12557
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Duane retraction syndrome
annotated property: IAO_0000115
annotated target: A strabismus characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction, or both, and narrowing of the palpebral fissure and retraction of the globe on attempted adduction.
type: ECO_0007645
has db xref: url:https://www.genome.gov/Genetic-Disorders/Duane-Syndrome

neonatal thyrotoxicosis
type: Class
subclass of: DOID 7997
has db xref: ICD10CM:P72.1
has db xref: ICD9CM:775.3
has db xref: NCI:C114906
has db xref: SNOMEDCT_US_2023_03_01:13795004
has db xref: UMLS_CUI:C0158983
has OBO namespace: disease_ontology
id: DOID:12573
in subset: NCIthesaurus

posterior uveitis
type: Class
subclass of: panuveitis
has db xref: GARD:4457
has db xref: MESH:D015866
has db xref: NCI:C35111
has db xref: SNOMEDCT_US_2023_03_01:46627006
has db xref: UMLS_CUI:C0042167
has exact synonym: Uveitis, posterior
has OBO namespace: disease_ontology
id: DOID:12574
in subset: DO rare slim
in subset: NCIthesaurus

urethral obstruction
type: Class
subclass of: DOID 732
has db xref: MESH:D014524
has db xref: NCI:C79804
has db xref: SNOMEDCT_US_2023_03_01:95588004
has db xref: UMLS_CUI:C0041972
has exact synonym: Obstruction of urethra
has OBO namespace: disease_ontology
id: DOID:12577
in subset: NCIthesaurus

Cri-Du-Chat syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome that has_material_basis_in deletion of the end of the chromosome 5 p arm and that is characterized by intellectual disability, delayed development, small head size, low birth weight, weak muscle tone widely set eyes, low-set ears, a small jaw, a rounded face and a high-pitched cry that sounds like that of a cat.
has db xref: GARD:6213
has db xref: ICD10CM:Q93.4
has db xref: ICD9CM:758.31
has db xref: MESH:D003410
has db xref: MIM:123450
has db xref: NCI:C34518
has db xref: SNOMEDCT_US_2023_03_01:70173007
has db xref: UMLS_CUI:C0010314
has exact synonym: 5p deletion syndrome
has exact synonym: 5p partial monosomy syndrome
has exact synonym: chromosome 5 short arm deletion syndrome
has exact synonym: chromosome 5p deletion syndrome
has OBO namespace: disease_ontology
id: DOID:12580
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Cri-Du-Chat syndrome
annotated property: IAO_0000115
annotated target: A syndrome that has_material_basis_in deletion of the end of the chromosome 5 p arm and that is characterized by intellectual disability, delayed development, small head size, low birth weight, weak muscle tone widely set eyes, low-set ears, a small jaw, a rounded face and a high-pitched cry that sounds like that of a cat.
has db xref: url:https://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome
has db xref: url:https://www.genome.gov/Genetic-Disorders/Cri-du-Chat

Potter's syndrome
type: Class
subclass of: DOID 557
IAO_0000115: A renal agenesis characterized by the typical physical appearance and associated pulmonary hypoplasia of a newborn as a direct result of kidney failure, oligohydramnios and compression while in the uterus.
has db xref: GARD:4462
has db xref: ICD10CM:Q60.6
has db xref: NCI:C40435
has db xref: SNOMEDCT_US_2023_03_01:41962002
has db xref: UMLS_CUI:C0178426
has exact synonym: Potter sequence
has exact synonym: Potter syndrome
has OBO namespace: disease_ontology
id: DOID:12594
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Potter's syndrome
annotated property: IAO_0000115
annotated target: A renal agenesis characterized by the typical physical appearance and associated pulmonary hypoplasia of a newborn as a direct result of kidney failure, oligohydramnios and compression while in the uterus.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Potter_Syndrome
has db xref: url:https://en.wikipedia.org/wiki/Potter_sequence
has db xref: url:https://rarediseases.info.nih.gov/diseases/4462/potter-syndrome

acute leukemia
type: Class
subclass of: lymphoid leukemia
IAO_0000115: A lymphoid leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity producing large numbers of white blood cells to be produced and enter the blood stream.
has alternative id: DOID:12621
has db xref: ICD10CM:C95.00
has db xref: ICD9CM:208.0
has db xref: ICDO:9801/3
has db xref: MIM:308960
has db xref: NCI:C9300
has db xref: SNOMEDCT_US_2023_03_01:24072005
has db xref: UMLS_CUI:C0085669
has db xref: UMLS_CUI:C1378511
has exact synonym: Stem cell Leukemia
has exact synonym: Stem cell leukaemia
has OBO namespace: disease_ontology
id: DOID:12603
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: acute leukemia
annotated property: IAO_0000115
annotated target: A lymphoid leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity producing large numbers of white blood cells to be produced and enter the blood stream.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/Acute_leukemia
has db xref: url:http://www.bloodjournal.org/content/bloodjournal/128/3/462.full.pdf
has db xref: url:http://www.merck.com/mmpe/sec11/ch142/ch142b.html

hypertrophic pyloric stenosis
type: Class
subclass of: pyloric stenosis
IAO_0000115: A pyloric stenosis characterized by the enlargement of the muscle surrounding the pylorus, causing severe projectile non-bilious vomiting.
has db xref: ICD10CM:Q40.0
has db xref: ICD9CM:750.5
has db xref: MESH:D046248
has db xref: MIM:179010
has db xref: MIM:300711
has db xref: MIM:610260
has db xref: MIM:612017
has db xref: MIM:612525
has db xref: NCI:C98952
has db xref: SNOMEDCT_US_2023_03_01:48644003
has db xref: UMLS_CUI:C0700639
has exact synonym: congenital hypertrophic pyloric stenosis
has exact synonym: congenital or infantile stricture of pylorus
has OBO namespace: disease_ontology
id: DOID:12638
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: hypertrophic pyloric stenosis
annotated property: IAO_0000115
annotated target: A pyloric stenosis characterized by the enlargement of the muscle surrounding the pylorus, causing severe projectile non-bilious vomiting.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Pyloric_stenosis

pyloric stenosis
type: Class
subclass of: DOID 76
has db xref: ICD10CM:K31.1
has db xref: MESH:D011707
has db xref: NCI:C34966
has db xref: SNOMEDCT_US_2023_03_01:367403001
has db xref: UMLS_CUI:C0034194
has OBO namespace: disease_ontology
id: DOID:12639
in subset: NCIthesaurus

hiatus hernia
type: Class
subclass of: DOID 76
has db xref: ICD10CM:K44
has db xref: MESH:D006551
has db xref: MIM:142400
has db xref: NCI:C98945
has db xref: SNOMEDCT_US_2023_03_01:236053002
has db xref: SNOMEDCT_US_2023_03_01:3662000
has db xref: SNOMEDCT_US_2023_03_01:84089009
has db xref: UMLS_CUI:C0267725
has db xref: UMLS_CUI:C0376710
has db xref: UMLS_CUI:C3489393
has exact synonym: Diaphragmatic - hiatus -hernia
has exact synonym: hiatal hernia
has OBO namespace: disease_ontology
id: DOID:12642
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

vestibulocochlear nerve disease
type: Class
subclass of: auditory system disease
has db xref: ICD10CM:H93.3
has db xref: ICD9CM:388.5
has db xref: MESH:D000160
has db xref: NCI:C27207
has db xref: SNOMEDCT_US_2023_03_01:77949003
has db xref: UMLS_CUI:C0001163
has exact synonym: acoustic nerve disease
has OBO namespace: disease_ontology
id: DOID:12657
in subset: NCIthesaurus

paracoccidioidomycosis
type: Class
subclass of: fungal infectious disease
IAO_0000115: A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis.
has db xref: GARD:7323
has db xref: ICD10CM:B41
has db xref: ICD9CM:116.1
has db xref: MESH:D010229
has db xref: NCI:C34891
has db xref: SNOMEDCT_US_2023_03_01:59925007
has db xref: UMLS_CUI:C0030409
has exact synonym: Mucocutaneous-lymphangitic paracoccidioidomycosis
has exact synonym: paracoccidioidal mycosis
has OBO namespace: disease_ontology
id: DOID:12662
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: paracoccidioidomycosis
annotated property: IAO_0000115
annotated target: A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis.
type: ECO_0007637
has db xref: url:http://www.mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/Paracoccidioidomycosis/

blastomycosis
type: Class
subclass of: fungal infectious disease
IAO_0000115: 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.
has alternative id: DOID:13067
has db xref: GARD:5931
has db xref: ICD10CM:B40
has db xref: ICD9CM:116.0
has db xref: MESH:D001759
has db xref: NCI:C34428
has db xref: SNOMEDCT_US_2023_03_01:266217003
has db xref: UMLS_CUI:C0005716
has exact synonym: Blastomyces Dermatitidis Infection
has exact synonym: Blastomycotic infection
has exact synonym: Chicago disease
has exact synonym: Gilchrist's disease
has exact synonym: Infection by Blastomyces dermatitidis
has exact synonym: North American blastomycosis
has OBO namespace: disease_ontology
id: DOID:12663
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: blastomycosis
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Blastomycosis

binocular vision disease
type: Class
subclass of: DOID 5656
subclass of: DOID 9835
has alternative id: DOID:12671
has db xref: ICD10CM:H53.30
has db xref: ICD9CM:368.30
has db xref: NCI:C34422
has db xref: SNOMEDCT_US_2023_03_01:83275001
has db xref: UMLS_CUI:C0005461
has exact synonym: simultaneous visual perception without fusion
has OBO namespace: disease_ontology
id: DOID:12667
in subset: NCIthesaurus

nephrocalcinosis
type: Class
subclass of: DOID 557
has db xref: GARD:7177
has db xref: MESH:D009397
has db xref: NCI:C84918
has db xref: SNOMEDCT_US_2023_03_01:154752005
has db xref: UMLS_CUI:C0027709
has OBO namespace: disease_ontology
id: DOID:12679
in subset: DO rare slim
in subset: NCIthesaurus

pseudobulbar palsy
type: Class
subclass of: DOID 936
IAO_0000115: A brain disease that is characterized by damage to neurons of the corticobulbar tract, has_symptom dysarthria, has_symptom dysphagia, has_symptom spasticity located_in tongue, has_symptom gag reflex, and has_symptom emotional outbursts.
has db xref: ICD9CM:335.23
has db xref: MESH:D020828
has db xref: NCI:C129934
has db xref: SNOMEDCT_US_2023_03_01:7379000
has db xref: UMLS_CUI:C0033790
has exact synonym: pseudobulbar paralysis
has OBO namespace: disease_ontology
id: DOID:12680
in subset: NCIthesaurus

Axiom
annotated source: pseudobulbar palsy
annotated property: IAO_0000115
annotated target: A brain disease that is characterized by damage to neurons of the corticobulbar tract, has_symptom dysarthria, has_symptom dysphagia, has_symptom spasticity located_in tongue, has_symptom gag reflex, and has_symptom emotional outbursts.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Corticobulbar_tract
has db xref: url:https://en.wikipedia.org/wiki/Pseudobulbar_palsy

mixed receptive-expressive language disorder
type: Class
subclass of: communication disorder
IAO_0000115: A communication disorder that involves both the receptive and expressive areas of communication may be affected in any degree, from mild to severe.
has db xref: ICD10CM:F80.2
has db xref: ICD9CM:315.32
has db xref: NCI:C92563
has db xref: SNOMEDCT_US_2023_03_01:25766007
has db xref: UMLS_CUI:C0236827
has OBO namespace: disease_ontology
id: DOID:12685
in subset: NCIthesaurus

Axiom
annotated source: mixed receptive-expressive language disorder
annotated property: IAO_0000115
annotated target: A communication disorder that involves both the receptive and expressive areas of communication may be affected in any degree, from mild to severe.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Mixed_receptive-expressive_language_disorder

acoustic neuroma
type: Class
subclass of: neurilemmoma
has db xref: GARD:223
has db xref: MESH:D009464
has db xref: NCI:C3276
has db xref: SNOMEDCT_US_2023_03_01:269643009
has db xref: UMLS_CUI:C0027859
has exact synonym: Vestibular Neurilemmoma
has exact synonym: Vestibular schwannoma
has OBO namespace: disease_ontology
id: DOID:12689
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

gynecomastia
type: Class
subclass of: gonadal disease
IAO_0000115: A disorder of sexual development that is characterized by enlargement or swelling of male breast tissue resulting from elevated male estrogen levels or imbalanced estrogen and testosterone levels.
has db xref: ICD10CM:N62
has db xref: MESH:D006177
has db xref: NCI:C3073
has db xref: SNOMEDCT_US_2023_03_01:155963008
has db xref: UMLS_CUI:C0018418
has OBO namespace: disease_ontology
id: DOID:12698
in subset: NCIthesaurus

Axiom
annotated source: gynecomastia
annotated property: IAO_0000115
annotated target: A disorder of sexual development that is characterized by enlargement or swelling of male breast tissue resulting from elevated male estrogen levels or imbalanced estrogen and testosterone levels.
type: ECO_0007637
has db xref: url:https://my.clevelandclinic.org/health/diseases/16227-enlarged-male-breast-tissue-gynecomastia
has db xref: url:https://www.mayoclinic.org/diseases-conditions/gynecomastia/symptoms-causes/syc-20351793

leiomyoma
type: Class
subclass of: disease
IAO_0000115: A cell type benign neoplasm that is a benign tumor of smooth muscle cells.
has db xref: ICDO:8890/0
has db xref: MESH:D007889
has db xref: NCI:C3157
has db xref: SNOMEDCT_US_2023_03_01:1162890002
has db xref: UMLS_CUI:C0023267
has exact synonym: leiomyomatous neoplasm
has exact synonym: leiomyomatous tumor
has OBO namespace: disease_ontology
id: DOID:127
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: leiomyoma
annotated property: IAO_0000115
annotated target: A cell type benign neoplasm that is a benign tumor of smooth muscle cells.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Cancer
has db xref: url:http://en.wikipedia.org/wiki/Leiomyoma

hereditary hemorrhagic telangiectasia
type: Class
subclass of: vascular disease
IAO_0000115: A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins.
has db xref: GARD:6626
has db xref: ICD10CM:I78.0
has db xref: ICD9CM:448.0
has db xref: MESH:D013683
has db xref: MIM:187300
has db xref: MIM:600376
has db xref: MIM:615506
has db xref: NCI:C35064
has db xref: ORDO:774
has db xref: SNOMEDCT_US_2023_03_01:266324004
has db xref: UMLS_CUI:C0039445
has exact synonym: Osler hemorrhagic telangiectasia syndrome
has exact synonym: Osler-Weber-Rendu disease
has exact synonym: Rendu-Osler-Weber disease
has OBO namespace: disease_ontology
id: DOID:1270
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: hereditary hemorrhagic telangiectasia
annotated property: IAO_0000115
annotated target: A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007646
has db xref: url:http://en.wikipedia.org/wiki/Hereditary_hemorrhagic_telangiectasia
has db xref: url:http://ghr.nlm.nih.gov/condition/hereditary-hemorrhagic-telangiectasia
has db xref: url:http://www.ncbi.nlm.nih.gov/books/NBK1351/

ataxia telangiectasia
type: Class
subclass of: neurodegenerative disease
IAO_0000115: An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22.
has db xref: GARD:5862
has db xref: MESH:D001260
has db xref: MIM:208900
has db xref: NCI:C2887
has db xref: SNOMEDCT_US_2023_03_01:68504005
has db xref: UMLS_CUI:C0004135
has exact synonym: Boder-Sedgwick syndrome
has exact synonym: Louis Bar syndrome
has OBO namespace: disease_ontology
id: DOID:12704
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: ataxia telangiectasia
annotated property: IAO_0000115
annotated target: An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22.
has db xref: url:https://ghr.nlm.nih.gov/condition/ataxia-telangiectasia

Friedreich ataxia
type: Class
subclass of: neurodegenerative disease
has alternative id: DOID:0050555
has db xref: GARD:6468
has db xref: ICD10CM:G11.11
has db xref: ICD9CM:334.0
has db xref: MESH:D005621
has db xref: NCI:C84718
has db xref: SNOMEDCT_US_2023_03_01:155011003
has db xref: UMLS_CUI:C0016719
has exact synonym: Friedreich's ataxia
has exact synonym: Friedreich's tabes
has OBO namespace: disease_ontology
id: DOID:12705
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

nephronophthisis
type: Class
subclass of: DOID 557
IAO_0000115: A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy).
has db xref: GARD:206
has db xref: ICD10CM:Q61.5
has db xref: MIM:PS256100
has db xref: NCI:C123200
has db xref: ORDO:655
has db xref: SNOMEDCT_US_2023_03_01:204958008
has db xref: UMLS_CUI:C0687120
has exact synonym: medullary cystic disease
has exact synonym: medullary cystic kidney
has OBO namespace: disease_ontology
id: DOID:12712
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: nephronophthisis
annotated property: IAO_0000115
annotated target: A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy).
type: ECO_0007645
has db xref: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2770134/

Ellis-Van Creveld syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either the EVC or EVC2 gene on chromosome 4p16.2.
has db xref: GARD:1301
has db xref: ICD10CM:Q77.6
has db xref: ICD9CM:756.55
has db xref: MESH:D004613
has db xref: MIM:225500
has db xref: NCI:C84684
has db xref: SNOMEDCT_US_2023_03_01:62501005
has db xref: UMLS_CUI:C0013903
has exact synonym: Chondroectodermal dysplasia
has exact synonym: mesoectodermal dysplasia
has OBO namespace: disease_ontology
id: DOID:12714
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Ellis-Van Creveld syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either the EVC or EVC2 gene on chromosome 4p16.2.
type: ECO_0007636
type: ECO_0007645
has db xref: url:https://ghr.nlm.nih.gov/condition/ellis-van-creveld-syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/10700184

telangiectasis
type: Class
subclass of: vascular disease
has db xref: MESH:D013684
has db xref: NCI:C28194
has db xref: SNOMEDCT_US_2023_03_01:112641009
has db xref: UMLS_CUI:C0039446
has exact synonym: telangiectasia
has OBO namespace: disease_ontology
id: DOID:1272
in subset: NCIthesaurus

cerebral atherosclerosis
type: Class
subclass of: atherosclerosis
IAO_0000115: An atherosclerosis of the cerebral vasculature.
has db xref: ICD10CM:I67.2
has db xref: ICD9CM:437.0
has db xref: MESH:D002537
has db xref: NCI:C34459
has db xref: SNOMEDCT_US_2023_03_01:266258005
has db xref: UMLS_CUI:C0007775
has OBO namespace: disease_ontology
id: DOID:12720
in subset: NCIthesaurus

Axiom
annotated source: cerebral atherosclerosis
annotated property: IAO_0000115
annotated target: An atherosclerosis of the cerebral vasculature.
type: ECO_0007646
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK218744/

respiratory syncytial virus infectious disease
type: Class
subclass of: DOID 934
IAO_0000115: A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus (Orthopneumovirus hominis), which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.
has db xref: MESH:D018357
has db xref: NCI:C3354
has db xref: SNOMEDCT_US_2025_05_01:55735004
has db xref: UMLS_CUI:C0035235
has exact synonym: RSV
has exact synonym: respiratory syncytial virus
has OBO namespace: disease_ontology
id: DOID:1273
in subset: DO infectious disease slim
in subset: NCIthesaurus
related match: ICD10CM:B97.4
related match: ICD10CM:J12.1
related match: ICD10CM:J20.5
related match: ICD10CM:J21.0
related match: ICD9CM:079.6
related match: ICD9CM:466.11
related match: ICD9CM:480.1

Axiom
annotated source: respiratory syncytial virus infectious disease
annotated property: IAO_0000115
annotated target: A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus (Orthopneumovirus hominis), which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.
type: ECO_0007637
has db xref: url:https://medlineplus.gov/respiratorysyncytialvirusinfections.html
has db xref: url:https://www.lung.org/lung-health-diseases/lung-disease-lookup/rsv
has db xref: url:https://www.merckmanuals.com/professional/pediatrics/respiratory-disorders-in-young-children/respiratory-syncytial-virus-rsv-and-human-metapneumovirus-infections

Axiom
annotated source: respiratory syncytial virus infectious disease
annotated property: hasExactSynonym
annotated target: RSV
has synonym type: OMO_0003012

pars planitis
type: Class
subclass of: DOID 8886
has db xref: GARD:7339
has db xref: ICD10CM:H30.2
has db xref: ICD9CM:363.21
has db xref: MESH:D015868
has db xref: MIM:606177
has db xref: NCI:C34903
has db xref: SNOMEDCT_US_2023_03_01:193452008
has db xref: UMLS_CUI:C0030593
has exact synonym: Posterior cyclitis
has OBO namespace: disease_ontology
id: DOID:12731
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

intermediate uveitis
type: Class
subclass of: uveitis
has db xref: MESH:D015867
has db xref: NCI:C35110
has db xref: SNOMEDCT_US_2023_03_01:314429009
has db xref: UMLS_CUI:C0042166
has exact synonym: chronic cyclitis
has exact synonym: peripheral uveoretinitis
has OBO namespace: disease_ontology
id: DOID:12732
in subset: NCIthesaurus

lacrimal duct cancer
type: Class
subclass of: lacrimal system cancer
has db xref: ICD9CM:190.7
has db xref: NCI:C3567
has db xref: SNOMEDCT_US_2023_03_01:93852003
has db xref: UMLS_CUI:C0153631
has exact synonym: malignant neoplasm of lacrimal duct
has exact synonym: malignant tumor of lacrimal duct
has OBO namespace: disease_ontology
id: DOID:12756
in subset: NCIthesaurus

choroid cancer
type: Class
subclass of: uveal cancer
has alternative id: DOID:12760
has db xref: ICD10CM:C69.3
has db xref: ICD9CM:190.6
has db xref: MESH:D002830
has db xref: NCI:C2949
has db xref: NCI:C3566
has db xref: SNOMEDCT_US_2023_03_01:127001008
has db xref: SNOMEDCT_US_2023_03_01:93755007
has db xref: UMLS_CUI:C0008523
has db xref: UMLS_CUI:C0153630
has exact synonym: Choroidal tumor
has exact synonym: choroid neoplasm
has exact synonym: malignant tumor of choroid
has exact synonym: malignant tumor of the Choroid
has exact synonym: neoplasm of choroid
has OBO namespace: disease_ontology
id: DOID:12759
in subset: NCIthesaurus

tolosa-hunt syndrome
type: Class
subclass of: DOID 5656
has db xref: GARD:7777
has db xref: MESH:D020333
has db xref: NCI:C85193
has db xref: SNOMEDCT_US_2023_03_01:75111000
has db xref: UMLS_CUI:C0040381
has OBO namespace: disease_ontology
id: DOID:1278
in subset: DO rare slim
in subset: NCIthesaurus

migraine without aura
type: Class
subclass of: DOID 6364
IAO_0000115: A migraine that is characterized by migraine headaches that are not accompanied by an aura.
has db xref: ICD10CM:G43.0
has db xref: ICD9CM:346.1
has db xref: MESH:D020326
has db xref: MIM:607501
has db xref: NCI:C117004
has db xref: SNOMEDCT_US_2023_03_01:56097005
has db xref: UMLS_CUI:C0338480
has exact synonym: common migraine
has OBO namespace: disease_ontology
id: DOID:12783
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: migraine without aura
annotated property: IAO_0000115
annotated target: A migraine that is characterized by migraine headaches that are not accompanied by an aura.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Migraine

mucopolysaccharidosis
type: Class
subclass of: lysosomal storage disease
IAO_0000115: A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine.
has alternative id: DOID:14716
has db xref: GARD:7065
has db xref: ICD10CM:E76.3
has db xref: ICD9CM:277.5
has db xref: MESH:D009083
has db xref: MIM:PS607014
has db xref: NCI:C61259
has db xref: ORDO:79213
has db xref: SNOMEDCT_US_2023_03_01:267452003
has db xref: UMLS_CUI:C0026703
has OBO namespace: disease_ontology
id: DOID:12798
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS].

Axiom
annotated source: mucopolysaccharidosis
annotated property: IAO_0000115
annotated target: A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine.
type: ECO_0007638
type: ECO_0007643
has db xref: url:http://en.wikipedia.org/wiki/Mucopolysaccharidosis
has db xref: url:https://www.merriam-webster.com/medical/mucopolysaccharidosis#medicalDictionary

mucopolysaccharidosis II
type: Class
subclass of: mucopolysaccharidosis
IAO_0000115: A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase.
has db xref: GARD:6675
has db xref: ICD10CM:E76.1
has db xref: MESH:D016532
has db xref: MIM:309900
has db xref: NCI:C61260
has db xref: SNOMEDCT_US_2023_03_01:190936000
has db xref: UMLS_CUI:C0026705
has exact synonym: Hunter syndrome
has exact synonym: Hunter's syndrome
has exact synonym: MPS II - Hunter syndrome
has exact synonym: Mucopolysaccharidosis, MPS-II
has exact synonym: deficiency of iduronate-2-sulphatase
has OBO namespace: disease_ontology
id: DOID:12799
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping submitted by NeuroDevNet. [LS].

Axiom
annotated source: mucopolysaccharidosis II
annotated property: IAO_0000115
annotated target: A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Hunter_syndrome

mucopolysaccharidosis VI
type: Class
subclass of: mucopolysaccharidosis
IAO_0000115: A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase.
has db xref: GARD:7095
has db xref: MESH:D009087
has db xref: MIM:253200
has db xref: NCI:C61264
has db xref: SNOMEDCT_US_2023_03_01:69463008
has db xref: UMLS_CUI:C0026709
has exact synonym: MPS VI - Maroteaux-Lamy syndrome
has exact synonym: Maroteaux - Lamy syndrome
has exact synonym: Maroteaux-Lamy syndrome
has exact synonym: arylsulfatase B deficiency
has exact synonym: deficiency of N-acetylgalactosamine-4-sulfatase
has OBO namespace: disease_ontology
id: DOID:12800
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: mucopolysaccharidosis VI
annotated property: IAO_0000115
annotated target: A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Maroteaux-Lamy_syndrome

mucopolysaccharidosis III
type: Class
subclass of: mucopolysaccharidosis
IAO_0000115: A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain.
has alternative id: DOID:14729
has alternative id: DOID:14788
has db xref: MESH:D009084
has db xref: NCI:C61262
has db xref: ORDO:581
has db xref: SNOMEDCT_US_2023_03_01:190936000
has db xref: UMLS_CUI:C0026706
has exact synonym: Mucopolysaccharidosis, MPS-III
has exact synonym: N-sulphoglucosamine sulphohydrolase deficiency
has exact synonym: Sanfilippo's syndrome
has exact synonym: heparan sulfate sulfatase deficiency
has narrow synonym: naglu deficiency
has OBO namespace: disease_ontology
id: DOID:12801
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: mucopolysaccharidosis III
annotated property: IAO_0000115
annotated target: A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Sanfilippo_syndrome

mucopolysaccharidosis I
type: Class
subclass of: mucopolysaccharidosis
IAO_0000115: A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase.
has db xref: GARD:10335
has db xref: ICD10CM:E76.0
has db xref: MESH:D008059
has db xref: NCI:C85053
has db xref: SNOMEDCT_US_2023_03_01:267453008
has db xref: UMLS_CUI:C0023786
has exact synonym: Hurler syndrome
has exact synonym: Hurler-Scheie syndrome
has exact synonym: Lipochondrodystrophy
has exact synonym: MPS I - Hurler syndrome
has exact synonym: Mucopolysaccharidosis, MPS-I
has exact synonym: Mucopolysaccharidosis, type 1
has exact synonym: iduronidase deficiency disease
has OBO namespace: disease_ontology
id: DOID:12802
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: mucopolysaccharidosis I
annotated property: IAO_0000115
annotated target: A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Mucopolysaccharidosis#MPS_I

mucopolysaccharidosis type VII
type: Class
subclass of: mucopolysaccharidosis
IAO_0000115: A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans.
has db xref: ICD10CM:E76.29
has db xref: MESH:D016538
has db xref: MIM:253220
has db xref: NCI:C84903
has db xref: SNOMEDCT_US_2023_03_01:43916004
has db xref: UMLS_CUI:C0085132
has exact synonym: MPS VII - Sly syndrome
has exact synonym: Sly syndrome
has exact synonym: beta-glucuronidase deficiency
has exact synonym: deficiency of beta-glucuronidase
has exact synonym: mucopolysaccharidosis VII
has OBO namespace: disease_ontology
id: DOID:12803
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: mucopolysaccharidosis type VII
annotated property: IAO_0000115
annotated target: A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Mucopolysaccharidosis_VII
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK598990/

mucopolysaccharidosis IV
type: Class
subclass of: mucopolysaccharidosis
IAO_0000115: A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain.
has alternative id: DOID:0050808
has alternative id: DOID:14767
has db xref: ICD10CM:E76.219
has db xref: MESH:D009085
has db xref: NCI:C61263
has db xref: SNOMEDCT_US_2023_03_01:378007
has db xref: UMLS_CUI:C0026707
has exact synonym: Mucopolysaccharidosis, MPS-IV
has exact synonym: deficiency of N-acetylgalactosamine-6-sulphatase
has exact synonym: deficiency of chondroitinsulphatase
has exact synonym: galactosamine-6-sulfatase deficiency
has narrow synonym: Osteochondrodystrophy
has narrow synonym: chondroosteodystrophy
has OBO namespace: disease_ontology
id: DOID:12804
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: mucopolysaccharidosis IV
annotated property: IAO_0000115
annotated target: A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Morquio_syndrome

quadriplegia
type: Class
subclass of: central nervous system disease
has db xref: ICD10CM:G82.5
has db xref: ICD9CM:344.00
has db xref: MESH:D011782
has db xref: NCI:C50721
has db xref: SNOMEDCT_US_2023_03_01:11538006
has db xref: UMLS_CUI:C0034372
has exact synonym: tetraplegia
has OBO namespace: disease_ontology
id: DOID:12835
in subset: NCIthesaurus

thyroid crisis
type: Class
subclass of: DOID 50
has db xref: MESH:D013958
has db xref: NCI:C112836
has db xref: SNOMEDCT_US_2023_03_01:190262002
has db xref: UMLS_CUI:C0040127
has exact synonym: Thyrotoxic crisis
has OBO namespace: disease_ontology
id: DOID:12837
in subset: NCIthesaurus

ancylostomiasis
type: Class
subclass of: DOID 883
IAO_0000115: A parasitic helminthiasis infectious disease that involves infection of skin, eyes, and viscera in humans by the parasitic nematodes Ancylostoma braziliense, Ancylostoma ceylanicum, Ancylostoma duodenale or Ancylostoma caninum. The larvae cause lesions on the skin at the site of penetration. The infection has_symptom intestinal bleeding, has_symptom abdominal pain, has_symptom anemia, has_symptom severe diarrhea and has_symptom malnutrition.
has db xref: GARD:9742
has db xref: ICD10CM:B76.0
has db xref: MESH:D000724
has db xref: NCI:C35805
has db xref: SNOMEDCT_US_2023_03_01:85807000
has db xref: UMLS_CUI:C0002831
has OBO namespace: disease_ontology
id: DOID:12841
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: ancylostomiasis
annotated property: IAO_0000115
annotated target: A parasitic helminthiasis infectious disease that involves infection of skin, eyes, and viscera in humans by the parasitic nematodes Ancylostoma braziliense, Ancylostoma ceylanicum, Ancylostoma duodenale or Ancylostoma caninum. The larvae cause lesions on the skin at the site of penetration. The infection has_symptom intestinal bleeding, has_symptom abdominal pain, has_symptom anemia, has_symptom severe diarrhea and has_symptom malnutrition.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Ancylostomiasis

Guillain-Barre syndrome
type: Class
subclass of: autoimmune disease of the nervous system
IAO_0000115: An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system.
has db xref: GARD:6554
has db xref: ICD10CM:G61.0
has db xref: MESH:D020275
has db xref: MIM:139393
has db xref: NCI:C116345
has db xref: SNOMEDCT_US_2023_03_01:155082001
has db xref: UMLS_CUI:C0018378
has exact synonym: Infectious neuronitis
has exact synonym: Post-infectious polyneuritis
has exact synonym: Postinfectious polyneuritis
has exact synonym: acute infective polyneuritis
has exact synonym: acute inflammatory demyelinating polyradiculopathy
has exact synonym: acute postinfectious polyneuropathy
has OBO namespace: disease_ontology
id: DOID:12842
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Guillain-Barre syndrome
annotated property: IAO_0000115
annotated target: An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system.
type: ECO_0007637
has db xref: url:http://www.ninds.nih.gov/disorders/gbs/gbs.htm

autistic disorder
type: Class
subclass of: disease of mental health
IAO_0000115: An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years.
has db xref: EFO:0003758
has db xref: ICD10CM:F84.0
has db xref: ICD9CM:299.0
has db xref: MESH:D001321
has db xref: MIM:209850
has db xref: NCI:C97161
has db xref: ORDO:106
has db xref: SNOMEDCT_US_2023_03_01:38763009
has db xref: UMLS_CUI:C0004352
has exact synonym: Kanner's syndrome
has exact synonym: autism
has exact synonym: autistic disorder of childhood onset
has exact synonym: childhood autism
has exact synonym: infantile autism
has OBO namespace: disease_ontology
id: DOID:12849
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: autistic disorder
annotated property: IAO_0000115
annotated target: An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Autism
has db xref: url:http://www.neurodevnet.ca

Huntington's disease
type: Class
subclass of: neurodegenerative disease
IAO_0000115: A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.
has db xref: GARD:6677
has db xref: ICD10CM:G10
has db xref: ICD9CM:333.4
has db xref: KEGG:05016
has db xref: MESH:D006816
has db xref: MIM:143100
has db xref: NCI:C82342
has db xref: SNOMEDCT_US_2023_03_01:58756001
has db xref: UMLS_CUI:C0020179
has exact synonym: HD
has exact synonym: Huntington disease
has exact synonym: Huntington's chorea
has OBO namespace: disease_ontology
id: DOID:12858
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Huntington's disease
annotated property: IAO_0000115
annotated target: A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.
type: ECO_0007636
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Huntington_disease

Axiom
annotated source: Huntington's disease
annotated property: hasExactSynonym
annotated target: HD
has synonym type: OMO_0003012

cardiovascular system disease
type: Class
subclass of: disease
IAO_0000115: A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.
has alternative id: DOID:73
has db xref: ICD9CM:429.2
has db xref: MESH:D002318
has db xref: NCI:C2931
has db xref: SNOMEDCT_US_2023_03_01:266275004
has db xref: UMLS_CUI:C0007222
has exact synonym: disease of subdivision of hemolymphoid system
has OBO namespace: disease_ontology
id: DOID:1287
in subset: DO AGR slim
in subset: DO CFDE slim
in subset: DO GXD slim
in subset: DO MGI slim
in subset: DO RAD slim
in subset: NCIthesaurus

Axiom
annotated source: cardiovascular system disease
annotated property: IAO_0000115
annotated target: A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Circulatory_system

hypochondriasis
type: Class
subclass of: DOID 4737
IAO_0000115: A somatoform disorder that involves an excessive preoccupation or worry about having a serious illness.
has db xref: ICD10CM:F45.21
has db xref: ICD9CM:300.7
has db xref: MESH:D006998
has db xref: NCI:C9493
has db xref: SNOMEDCT_US_2023_03_01:18193002
has db xref: UMLS_CUI:C0020604
has exact synonym: Hypochondria
has exact synonym: Hypochondriacal disorder
has exact synonym: hypochondriacal neurosis
has OBO namespace: disease_ontology
id: DOID:12883
in subset: NCIthesaurus

Axiom
annotated source: hypochondriasis
annotated property: IAO_0000115
annotated target: A somatoform disorder that involves an excessive preoccupation or worry about having a serious illness.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Hypochondriasis

Miller Fisher syndrome
type: Class
subclass of: Guillain-Barre syndrome
IAO_0000115: A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia.
has db xref: GARD:3668
has db xref: ICD10CM:G61.0
has db xref: MESH:D019846
has db xref: NCI:C116958
has db xref: SNOMEDCT_US_2023_03_01:1767005
has db xref: UMLS_CUI:C0393799
has exact synonym: Fisher's syndrome
has exact synonym: Miller-Fisher variant of Guillain-Barre syndrome
has OBO namespace: disease_ontology
id: DOID:12889
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Miller Fisher syndrome
annotated property: IAO_0000115
annotated target: A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Miller_Fisher_syndrome#Classification

neurodegenerative disease
type: Class
subclass of: central nervous system disease
IAO_0000115: A central nervous system disease that results in the progressive deterioration of function or structure of neurons.
has alternative id: DOID:4874
has db xref: ICD10CM:G31.9
has db xref: MESH:D019636
has db xref: NCI:C27090
has db xref: SNOMEDCT_US_2023_03_01:362975008
has db xref: UMLS_CUI:C0524851
has db xref: UMLS_CUI:C1285162
has exact synonym: degenerative disease
has OBO namespace: disease_ontology
id: DOID:1289
in subset: DO FlyBase slim
in subset: NCIthesaurus

Axiom
annotated source: neurodegenerative disease
annotated property: IAO_0000115
annotated target: A central nervous system disease that results in the progressive deterioration of function or structure of neurons.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Degenerative_disease
has db xref: url:http://en.wikipedia.org/wiki/Neurodegeneration

Sjogren's syndrome
type: Class
subclass of: disease
IAO_0000115: An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.
has alternative id: DOID:416
has db xref: GARD:10252
has db xref: ICD10CM:M35.0
has db xref: ICD9CM:710.2
has db xref: MESH:D012859
has db xref: MIM:270150
has db xref: NCI:C26883
has db xref: NCI:C70647
has db xref: SNOMEDCT_US_2023_03_01:267875002
has db xref: SNOMEDCT_US_2023_03_01:83901003
has db xref: UMLS_CUI:C0086981
has db xref: UMLS_CUI:C1527336
has exact synonym: Sicca syndrome
has exact synonym: Sjogren syndrome
has exact synonym: xerodermosteosis
has OBO namespace: disease_ontology
id: DOID:12894
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: Sjogren's syndrome
annotated property: IAO_0000115
annotated target: An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Sj%C3%B6gren%27s_syndrome
comment: ls:IEDB

benign lymphoepithelial lesion of salivary gland
type: Class
subclass of: mouth disease
has db xref: ICD10CM:K11.8
has db xref: NCI:C3949
has db xref: SNOMEDCT_US_2023_03_01:45517002
has db xref: UMLS_CUI:C0266995
has exact synonym: Godwin tumor
has OBO namespace: disease_ontology
id: DOID:12899
in subset: NCIthesaurus

Mikulicz disease
type: Class
subclass of: disease
IAO_0000115: An autoimmune disease that is characterized by chronic enlargement of the glands of the head and neck, has_symptom lumps of the face and neck, dry eyes, dry mouth, and intermittent fever, and is often associated with an underlying autoimmune disorder, hematologic malignancy, tuberculosis infection, or syphilis infection.
has db xref: GARD:7043
has db xref: ICD10CM:K11.8
has db xref: MESH:D008882
has db xref: NCI:C34819
has db xref: SNOMEDCT_US_2023_03_01:7826003
has db xref: UMLS_CUI:C0026103
has exact synonym: IgG4-related dacryoadenitis and sialadenitis
has exact synonym: Mikulicz's disease
has OBO namespace: disease_ontology
id: DOID:12900
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Mikulicz disease
annotated property: IAO_0000115
annotated target: An autoimmune disease that is characterized by chronic enlargement of the glands of the head and neck, has_symptom lumps of the face and neck, dry eyes, dry mouth, and intermittent fever, and is often associated with an underlying autoimmune disorder, hematologic malignancy, tuberculosis infection, or syphilis infection.
type: ECO_0007636
has db xref: url:https://rarediseases.org/rare-diseases/mikulicz-syndrome/

mucocele of salivary gland
type: Class
subclass of: mouth disease
has db xref: ICD10CM:K11.6
has db xref: ICD9CM:527.6
has db xref: NCI:C27649
has db xref: SNOMEDCT_US_2023_03_01:196508008
has db xref: UMLS_CUI:C0026686
has exact synonym: Mucous retention cyst of salivary gland
has exact synonym: Ranula
has exact synonym: Salivary Cyst
has exact synonym: Salivary gland mucocele
has OBO namespace: disease_ontology
id: DOID:12904
in subset: NCIthesaurus

thromboangiitis obliterans
type: Class
subclass of: vascular disease
has db xref: ICD10CM:I73.1
has db xref: ICD9CM:443.1
has db xref: MESH:D013919
has db xref: MIM:211480
has db xref: NCI:C35070
has db xref: SNOMEDCT_US_2023_03_01:195298008
has db xref: UMLS_CUI:C0040021
has exact synonym: Buerger's disease
has exact synonym: Presenile gangrene
has OBO namespace: disease_ontology
id: DOID:12918
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

endocardial fibroelastosis
type: Class
subclass of: heart disease
IAO_0000115: An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers.
has db xref: GARD:2121
has db xref: GARD:6336
has db xref: ICD10CM:I42.4
has db xref: ICD9CM:425.3
has db xref: MESH:D004695
has db xref: MIM:226000
has db xref: NCI:C98922
has db xref: SNOMEDCT_US_2023_03_01:65457005
has db xref: UMLS_CUI:C0014117
has exact synonym: Elastomyofibrosis
has OBO namespace: disease_ontology
id: DOID:12929
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: endocardial fibroelastosis
annotated property: IAO_0000115
annotated target: An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers.
type: ECO_0007636
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Endocardial_fibroelastosis
has db xref: url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/219/viewAbstract

labia minora carcinoma
type: Class
subclass of: vulva carcinoma
IAO_0000115: A vulva carcinoma that is located_in the labia minora.
has db xref: NCI:C9364
has db xref: UMLS_CUI:C1334357
has exact synonym: Labia Minora cancer
has OBO namespace: disease_ontology
has related synonym: carcinoma of labia minora
id: DOID:1293
in subset: NCIthesaurus

Axiom
annotated source: labia minora carcinoma
annotated property: IAO_0000115
annotated target: A vulva carcinoma that is located_in the labia minora.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/13733610

dilated cardiomyopathy
type: Class
subclass of: cardiomyopathy
IAO_0000115: An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.
has db xref: EFO:0000407
has db xref: GARD:221
has db xref: ICD10CM:I42.0
has db xref: KEGG:05414
has db xref: MESH:D002311
has db xref: MIM:PS115200
has db xref: NCI:C84673
has db xref: ORDO:217604
has db xref: SNOMEDCT_US_2023_03_01:74368002
has db xref: UMLS_CUI:C0007193
has exact synonym: primary dilated cardiomyopathy
has OBO namespace: disease_ontology
has related synonym: Congestive cardiomyopathy
has related synonym: Familial dilated cardiomyopathy
has related synonym: Idiopathic dilation cardiomyopathy
id: DOID:12930
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: dilated cardiomyopathy
annotated property: IAO_0000115
annotated target: An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Dilated_cardiomyopathy

Axiom
annotated source: dilated cardiomyopathy
annotated property: hasRelatedSynonym
annotated target: Familial dilated cardiomyopathy
has db xref: MESH:C536231

Axiom
annotated source: dilated cardiomyopathy
annotated property: hasRelatedSynonym
annotated target: Idiopathic dilation cardiomyopathy
has db xref: MESH:C536277

endomyocardial fibrosis
type: Class
subclass of: restrictive cardiomyopathy
has db xref: GARD:6340
has db xref: ICD9CM:425.0
has db xref: MESH:D004719
has db xref: NCI:C34585
has db xref: SNOMEDCT_US_2023_03_01:111507009
has db xref: UMLS_CUI:C0553980
has exact synonym: African endomyocardial fibrosis
has exact synonym: Becker's disease
has exact synonym: Endomyocardial sclerosis
has exact synonym: obscure African cardiomyopathy
has OBO namespace: disease_ontology
id: DOID:12932
in subset: DO rare slim
in subset: NCIthesaurus

Kearns-Sayre syndrome
type: Class
subclass of: DOID 699
has db xref: GARD:6817
has db xref: ICD10CM:H49.81
has db xref: MESH:D007625
has db xref: MIM:530000
has db xref: NCI:C84798
has db xref: SNOMEDCT_US_2023_03_01:25792000
has db xref: UMLS_CUI:C0022541
has OBO namespace: disease_ontology
id: DOID:12934
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

alcoholic cardiomyopathy
type: Class
subclass of: cardiomyopathy
has db xref: ICD10CM:I42.6
has db xref: ICD9CM:425.5
has db xref: MESH:D002310
has db xref: NCI:C53653
has db xref: SNOMEDCT_US_2023_03_01:83521008
has db xref: UMLS_CUI:C0007192
has exact synonym: Alcohol-induced heart muscle disease
has exact synonym: Dilated cardiomyopathy secondary to alcohol
has OBO namespace: disease_ontology
id: DOID:12935
in subset: NCIthesaurus

vulva carcinoma
type: Class
subclass of: vulva cancer
IAO_0000115: A vulva cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
has db xref: NCI:C4866
has db xref: UMLS_CUI:C0677055
has exact synonym: Vulvar carcinoma
has OBO namespace: disease_ontology
has related synonym: carcinoma of vulva
id: DOID:1294
in subset: NCIthesaurus

Axiom
annotated source: vulva carcinoma
annotated property: IAO_0000115
annotated target: A vulva cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
type: ECO_0007637
has db xref: url:http://www.cancer.gov/cancertopics/types/vulvar

acrocephalosyndactylia
type: Class
subclass of: dysostosis
IAO_0000115: A synostosis that results_in craniosynostosis and syndactyly.
has alternative id: DOID:0080004
has db xref: ICD9CM:755.55
has db xref: MESH:D000168
has db xref: MIM:101200
has db xref: NCI:C34348
has db xref: SNOMEDCT_US_2023_03_01:63661009
has db xref: UMLS_CUI:C1510455
has exact synonym: Apert syndrome
has OBO namespace: disease_ontology
id: DOID:12960
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: acrocephalosyndactylia
annotated property: IAO_0000115
annotated target: A synostosis that results_in craniosynostosis and syndactyly.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Acrocephalosyndactylia

Poland syndrome
type: Class
subclass of: disease
IAO_0000115: A physical disorder that is characterized by missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand.
has db xref: GARD:7412
has db xref: ICD10CM:Q79.8
has db xref: MESH:D011045
has db xref: MIM:173800
has db xref: NCI:C85017
has db xref: SNOMEDCT_US_2023_03_01:205524002
has db xref: UMLS_CUI:C0032357
has exact synonym: Poland anomaly
has exact synonym: Poland's syndactyly
has OBO namespace: disease_ontology
id: DOID:12961
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Poland syndrome
annotated property: IAO_0000115
annotated target: A physical disorder that is characterized by missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/25831684
has db xref: url:https://www.genome.gov/Genetic-Disorders/Poland-Anomaly

central nervous system leukemia
type: Class
subclass of: leukemia
IAO_0000115: A leukemia located_in the central nervous system.
has db xref: NCI:C5440
has db xref: UMLS_CUI:C1332884
has exact synonym: Leukemia of the CNS
has OBO namespace: disease_ontology
id: DOID:12969
in subset: NCIthesaurus

Axiom
annotated source: central nervous system leukemia
annotated property: IAO_0000115
annotated target: A leukemia located_in the central nervous system.
type: ECO_0007645

hereditary spherocytosis
type: Class
subclass of: DOID 589
IAO_0000115: A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape.
has db xref: GARD:6639
has db xref: ICD10CM:D58.0
has db xref: ICD9CM:282.0
has db xref: MESH:D013103
has db xref: NCI:C97074
has db xref: ORDO:822
has db xref: SNOMEDCT_US_2023_03_01:154795009
has db xref: UMLS_CUI:C0037889
has exact synonym: Congenital spherocytic hemolytic anemia
has exact synonym: Minkowski Chauffard syndrome
has exact synonym: spherocytic anemia
has OBO namespace: disease_ontology
id: DOID:12971
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: hereditary spherocytosis
annotated property: IAO_0000115
annotated target: A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Hereditary_spherocytosis
has db xref: url:https://research.nhgri.nih.gov/RBCmembrane/

Plasmodium vivax malaria
type: Class
subclass of: malaria
IAO_0000115: A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals.
has db xref: ICD10CM:B51
has db xref: ICD9CM:084.1
has db xref: MESH:D016780
has db xref: NCI:C34800
has db xref: SNOMEDCT_US_2023_03_01:27052006
has db xref: UMLS_CUI:C0024537
has exact synonym: Malaria by Plasmodium vivax
has exact synonym: Vivax Malaria
has OBO namespace: disease_ontology
id: DOID:12978
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: Plasmodium vivax malaria
annotated property: IAO_0000115
annotated target: A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals.
type: ECO_0007643
has db xref: url:https://www.merriam-webster.com/dictionary/vivax%20malaria#medicalDictionary

vagus nerve neoplasm
type: Class
subclass of: cranial nerve malignant neoplasm
has db xref: NCI:C5831
has db xref: SNOMEDCT_US_2023_03_01:126976007
has db xref: UMLS_CUI:C1263901
has exact synonym: Vagus nerve tumors
has exact synonym: neoplasm of vagus nerve
has OBO namespace: disease_ontology
id: DOID:12984
in subset: NCIthesaurus

leukostasis
type: Class
subclass of: DOID 74
has db xref: MESH:D018921
has db xref: NCI:C4062
has db xref: SNOMEDCT_US_2023_03_01:30419000
has db xref: UMLS_CUI:C0282548
has OBO namespace: disease_ontology
id: DOID:12986
in subset: NCIthesaurus

conduct disorder
type: Class
subclass of: disease of mental health
IAO_0000115: A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated.
has db xref: EFO:0004216
has db xref: ICD10CM:F91
has db xref: ICD9CM:312.9
has db xref: MESH:D019955
has db xref: NCI:C89329
has db xref: SNOMEDCT_US_2023_03_01:430909002
has db xref: UMLS_CUI:C0149654
has OBO namespace: disease_ontology
id: DOID:12995
in subset: NCIthesaurus

Axiom
annotated source: conduct disorder
annotated property: IAO_0000115
annotated target: A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Conduct_disorder
has db xref: url:http://www.nmha.org/go/conduct-disorder

carotid stenosis
type: Class
subclass of: carotid artery disease
has db xref: MESH:D016893
has db xref: NCI:C95804
has db xref: SNOMEDCT_US_2023_03_01:195181000
has db xref: UMLS_CUI:C0007282
has exact synonym: Carotid artery stenosis
has exact synonym: Stenosis, carotid artery
has OBO namespace: disease_ontology
id: DOID:13001
in subset: NCIthesaurus

subclavian steal syndrome
type: Class
subclass of: syndrome
has db xref: ICD9CM:435.2
has db xref: MESH:D013349
has db xref: NCI:C35044
has db xref: SNOMEDCT_US_2023_03_01:15258001
has db xref: UMLS_CUI:C0038531
has exact synonym: Subclavian artery stenosis
has exact synonym: subclavian steal phenomenon
has exact synonym: subclavian steal steno-occlusive disease
has OBO namespace: disease_ontology
id: DOID:13002
in subset: NCIthesaurus

shipyard eye
type: Class
subclass of: DOID 9368
has db xref: ICD10CM:B30.0
has db xref: ICD9CM:077.1
has db xref: NCI:C34590
has db xref: SNOMEDCT_US_2023_03_01:60548004
has db xref: UMLS_CUI:C0014493
has exact synonym: EKC
has exact synonym: Epidemic keratoconjunctivitis
has OBO namespace: disease_ontology
id: DOID:13014
in subset: NCIthesaurus

Axiom
annotated source: shipyard eye
annotated property: hasExactSynonym
annotated target: EKC
has synonym type: OMO_0003012

retinopathy of prematurity
type: Class
subclass of: DOID 5679
has db xref: GARD:5695
has db xref: ICD10CM:H35.1
has db xref: ICD9CM:362.21
has db xref: MESH:D012178
has db xref: NCI:C34982
has db xref: SNOMEDCT_US_2023_03_01:155110004
has db xref: UMLS_CUI:C0035344
has exact synonym: Retrolental fibroplasia
has exact synonym: premature retinopathy
has OBO namespace: disease_ontology
id: DOID:13025
in subset: DO rare slim
in subset: NCIthesaurus

transient global amnesia
type: Class
subclass of: amnestic disorder
IAO_0000115: An amnestic disorder that is characterized by temporary but almost total disruption of short-term memory with a range of problems accessing older memories.
has db xref: GARD:8172
has db xref: ICD10CM:G45.4
has db xref: ICD9CM:437.7
has db xref: MESH:D020236
has db xref: NCI:C85198
has db xref: SNOMEDCT_US_2023_03_01:366963000
has db xref: UMLS_CUI:C0338591
has OBO namespace: disease_ontology
id: DOID:13027
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: transient global amnesia
annotated property: IAO_0000115
annotated target: An amnestic disorder that is characterized by temporary but almost total disruption of short-term memory with a range of problems accessing older memories.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Transient_global_amnesia

balanitis
type: Class
subclass of: reproductive system disease
has db xref: ICD10CM:N48.1
has db xref: MESH:D001446
has db xref: NCI:C26705
has db xref: SNOMEDCT_US_2023_03_01:155928003
has db xref: UMLS_CUI:C0004690
has OBO namespace: disease_ontology
id: DOID:13033
in subset: NCIthesaurus

louse-borne relapsing fever
type: Class
subclass of: bacterial infectious disease
IAO_0000115: A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material_basis_in Borrelia recurrentis, which is transmitted_by body louse (Pediculus humanus). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy.
has db xref: ICD10CM:A68.0
has db xref: ICD9CM:087.0
has db xref: MESH:D012061
has db xref: NCI:C128426
has db xref: SNOMEDCT_US_2023_03_01:14683004
has db xref: UMLS_CUI:C0152061
has exact synonym: Relapsing fever, louse-borne
has OBO namespace: disease_ontology
id: DOID:13035
in subset: DO infectious disease slim
in subset: NCIthesaurus
in subset: gram-negative bacterial infectious disease

Axiom
annotated source: louse-borne relapsing fever
annotated property: IAO_0000115
annotated target: A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material_basis_in Borrelia recurrentis, which is transmitted_by body louse (Pediculus humanus). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/30869050

tick-borne relapsing fever
type: Class
subclass of: bacterial infectious disease
IAO_0000115: A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material_basis_in Borrelia hermsii, has_material_basis_in Borrelia parkeri or has_material_basis_in Borrelia duttoni, which are transmitted_by soft ticks (Ornithodoros parkeri and Ornithodoros hermsii). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy.
has db xref: ICD10CM:A68.1
has db xref: ICD9CM:087.1
has db xref: NCI:C34976
has db xref: SNOMEDCT_US_2023_03_01:10301003
has db xref: UMLS_CUI:C0035022
has exact synonym: Relapsing fever, tick-borne
has exact synonym: soft tick relapsing fever
has OBO namespace: disease_ontology
id: DOID:13036
in subset: DO infectious disease slim
in subset: NCIthesaurus
in subset: gram-negative bacterial infectious disease
in subset: tick-borne infectious disease
in subset: zoonotic infectious disease

Axiom
annotated source: tick-borne relapsing fever
annotated property: IAO_0000115
annotated target: A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material_basis_in Borrelia hermsii, has_material_basis_in Borrelia parkeri or has_material_basis_in Borrelia duttoni, which are transmitted_by soft ticks (Ornithodoros parkeri and Ornithodoros hermsii). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Relapsing_fever

persistent fetal circulation syndrome
type: Class
subclass of: DOID 6432
has db xref: ICD10CM:P29.3
has db xref: ICD9CM:747.83
has db xref: MESH:D010547
has db xref: MIM:265380
has db xref: NCI:C85006
has db xref: SNOMEDCT_US_2023_03_01:35604006
has db xref: UMLS_CUI:C0031190
has exact synonym: Fetal circulation
has exact synonym: Persistent fetal circulation
has exact synonym: Persistent foetal circulation
has exact synonym: congenital alveolar capillary dysplasia with misalignment of pulmonary veins
has exact synonym: persistent foetal circulation syndrome
has exact synonym: persistent pulmonary hypertension of the newborn
has OBO namespace: disease_ontology
id: DOID:13042
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

renal osteodystrophy
type: Class
subclass of: DOID 557
has db xref: ICD10CM:N25.0
has db xref: ICD9CM:588.0
has db xref: MESH:D012080
has db xref: NCI:C114827
has db xref: SNOMEDCT_US_2023_03_01:266617009
has db xref: UMLS_CUI:C0035086
has exact synonym: renal rickets
has OBO namespace: disease_ontology
id: DOID:13068
in subset: NCIthesaurus

acquired hyperkeratosis
type: Class
subclass of: keratosis
has db xref: ICD9CM:701.1
has db xref: NCI:C34746
has db xref: SNOMEDCT_US_2023_03_01:20637002
has db xref: UMLS_CUI:C0022581
has exact synonym: Keratoderma - acquired
has exact synonym: Keratoderma, acquired
has exact synonym: acquired keratoderma
has OBO namespace: disease_ontology
id: DOID:13072
in subset: NCIthesaurus

eumycotic mycetoma
type: Class
subclass of: fungal infectious disease
IAO_0000115: A dermatomycosis that effects skin and subcutaneous tissue located in foot, located in trunk, located in buttocks, located in eyelids, located in lacrimal glands, located in paranasal sinuses, located in mandible, located in scalp, located in neck, located in perineum, or located in testes and has symptom sinus discharge and results in formation of nodules.
has db xref: ICD10CM:B47
has db xref: MESH:D008271
has db xref: NCI:C85505
has db xref: SNOMEDCT_US_2023_03_01:410039003
has db xref: UMLS_CUI:C0024449
has exact synonym: Madura foot
has exact synonym: Maduromycosis, mycotic
has exact synonym: Mycotic mycetoma
has exact synonym: eumycetoma
has exact synonym: maduromycosis
has OBO namespace: disease_ontology
id: DOID:13078
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: eumycotic mycetoma
annotated property: IAO_0000115
annotated target: A dermatomycosis that effects skin and subcutaneous tissue located in foot, located in trunk, located in buttocks, located in eyelids, located in lacrimal glands, located in paranasal sinuses, located in mandible, located in scalp, located in neck, located in perineum, or located in testes and has symptom sinus discharge and results in formation of nodules.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Maduromycosis
has db xref: url:http://www.mycology.adelaide.edu.au/Mycoses/Subcutaneous/Mycetoma/index.html

hemangioma of subcutaneous tissue
type: Class
subclass of: skin benign neoplasm
has db xref: NCI:C8540
has db xref: SNOMEDCT_US_2023_03_01:93473009
has db xref: UMLS_CUI:C0685200
has exact synonym: Angioma of the Subcutaneous tissue
has exact synonym: Subcutaneous haemangioma
has exact synonym: Subcutaneous hemangioma
has OBO namespace: disease_ontology
id: DOID:13081
in subset: NCIthesaurus

periventricular leukomalacia
type: Class
subclass of: encephalomalacia
has db xref: GARD:10285
has db xref: ICD10CM:P91.2
has db xref: ICD9CM:779.7
has db xref: MESH:D007969
has db xref: NCI:C99013
has db xref: SNOMEDCT_US_2023_03_01:230769007
has db xref: UMLS_CUI:C0023529
has OBO namespace: disease_ontology
id: DOID:13088
in subset: DO rare slim
in subset: NCIthesaurus

branch retinal artery occlusion
type: Class
subclass of: DOID 8483
has db xref: ICD10CM:H34.23
has db xref: ICD9CM:362.32
has db xref: MESH:D015356
has db xref: NCI:C34436
has db xref: SNOMEDCT_US_2023_03_01:50821009
has db xref: UMLS_CUI:C0006123
has exact synonym: Arterial retinal branch occlusion
has exact synonym: retinal arterial branch occlusion
has OBO namespace: disease_ontology
id: DOID:13094
in subset: NCIthesaurus

central retinal artery occlusion
type: Class
subclass of: DOID 8483
IAO_0000115: A retinal artery occlusion characterized by blockage of blood flow through the central retinal artery.
has db xref: ICD10CM:H34.1
has db xref: ICD9CM:362.31
has db xref: MESH:D015356
has db xref: NCI:C34456
has db xref: SNOMEDCT_US_2023_03_01:38742007
has db xref: UMLS_CUI:C0007688
has OBO namespace: disease_ontology
id: DOID:13098
in subset: NCIthesaurus

Axiom
annotated source: central retinal artery occlusion
annotated property: IAO_0000115
annotated target: A retinal artery occlusion characterized by blockage of blood flow through the central retinal artery.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Central_retinal_artery_occlusion

Moyamoya disease
type: Class
subclass of: DOID 6713
IAO_0000115: A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots.
has db xref: GARD:7064
has db xref: ICD10CM:I67.5
has db xref: ICD9CM:437.5
has db xref: MESH:D009072
has db xref: MIM:252350
has db xref: MIM:300845
has db xref: MIM:607151
has db xref: MIM:608796
has db xref: MIM:614042
has db xref: MIM:615750
has db xref: NCI:C84895
has db xref: ORDO:2573
has db xref: ORDO:280679
has db xref: ORDO:401945
has db xref: SNOMEDCT_US_2023_03_01:69116000
has db xref: UMLS_CUI:C0026654
has exact synonym: progressive intracranial arterial occlusion
has OBO namespace: disease_ontology
id: DOID:13099
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Moyamoya disease
annotated property: IAO_0000115
annotated target: A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Moyamoya_disease

bladder leiomyoma
type: Class
subclass of: DOID 731
IAO_0000115: A bladder benign neoplasm that derives_from smooth muscle cells.
has db xref: NCI:C6178
has db xref: UMLS_CUI:C1332560
has exact synonym: leiomyoma of the urinary bladder
has OBO namespace: disease_ontology
id: DOID:13109
in subset: NCIthesaurus

Axiom
annotated source: bladder leiomyoma
annotated property: IAO_0000115
annotated target: A bladder benign neoplasm that derives_from smooth muscle cells.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5532898/

bladder squamous papilloma
type: Class
subclass of: DOID 731
has db xref: NCI:C39834
has db xref: UMLS_CUI:C1511199
has OBO namespace: disease_ontology
id: DOID:13110
in subset: NCIthesaurus

paronychia
type: Class
subclass of: disease
IAO_0000115: A nail disease characterized by often-tender bacterial or fungal hand infection or foot infection due to either bacteria or fungus (Candida albicans) where the nail and skin meet at the side or the base of a finger or toe nail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Puss is usually present, along with gradual thickening and browning discoloration of the nail plate.
has alternative id: DOID:11398
has alternative id: DOID:9689
has db xref: ICD10CM:L03.0
has db xref: MESH:D010304
has db xref: NCI:C79702
has db xref: SNOMEDCT_US_2023_03_01:267830000
has db xref: UMLS_CUI:C0030578
has exact synonym: Infected nailfold
has exact synonym: Onychia and paronychia of finger
has exact synonym: Onychia and paronychia of toe
has exact synonym: fungal nail infection
has OBO namespace: disease_ontology
has related synonym: paronychia inflammation
id: DOID:13117
in subset: NCIthesaurus

Axiom
annotated source: paronychia
annotated property: IAO_0000115
annotated target: A nail disease characterized by often-tender bacterial or fungal hand infection or foot infection due to either bacteria or fungus (Candida albicans) where the nail and skin meet at the side or the base of a finger or toe nail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Puss is usually present, along with gradual thickening and browning discoloration of the nail plate.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Paronychia

focal segmental glomerulosclerosis
type: Class
subclass of: glomerulonephritis
has alternative id: DOID:3945
has db xref: EFO:0004236
has db xref: GARD:6517
has db xref: MESH:D005923
has db xref: MIM:PS603278
has db xref: NCI:C37308
has db xref: SNOMEDCT_US_2023_03_01:25821008
has db xref: UMLS_CUI:C0017668
has exact synonym: FGS
has exact synonym: FSGS
has exact synonym: focal glomerular sclerosis
has exact synonym: focal glomerulosclerosis
has OBO namespace: disease_ontology
id: DOID:1312
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: focal segmental glomerulosclerosis
annotated property: hasExactSynonym
annotated target: FGS
has synonym type: OMO_0003012

Axiom
annotated source: focal segmental glomerulosclerosis
annotated property: hasExactSynonym
annotated target: FSGS
has synonym type: OMO_0003012

HELLP syndrome
type: Class
subclass of: pre-eclampsia
IAO_0000115: A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count.
has db xref: GARD:8528
has db xref: ICD10CM:O14.2
has db xref: MESH:D017359
has db xref: NCI:C84750
has db xref: SNOMEDCT_US_2023_03_01:95605009
has db xref: UMLS_CUI:C0162739
has OBO namespace: disease_ontology
id: DOID:13133
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: HELLP syndrome
annotated property: IAO_0000115
annotated target: A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/24400024
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/25879992

Werdnig-Hoffmann disease
type: Class
subclass of: childhood spinal muscular atrophy
IAO_0000115: A childhood spinal muscular atrophy that is a severe form and is characterized by muscle weakness onset from birth to six months of age, the inability to sit unassisted and that has_material_basis_in a mutation or deletion in the telomeric copy of the SMN gene, known as SMN1, on chromosome 5q13.
has db xref: GARD:7883
has db xref: ICD10CM:G12.0
has db xref: ICD9CM:335.0
has db xref: MESH:D014897
has db xref: MIM:253300
has db xref: NCI:C98670
has db xref: SNOMEDCT_US_2023_03_01:64383006
has db xref: UMLS_CUI:C0043116
has exact synonym: HMN (Hereditary motor Neuropathy) Proximal type I
has exact synonym: SMA1
has exact synonym: Spinal muscular atrophy 1
has exact synonym: hereditary motor neuropathy proximal type I
has exact synonym: infantile muscular atrophy
has exact synonym: progressive muscular atrophy of infancy
has OBO namespace: disease_ontology
id: DOID:13137
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Werdnig-Hoffmann disease
annotated property: IAO_0000115
annotated target: A childhood spinal muscular atrophy that is a severe form and is characterized by muscle weakness onset from birth to six months of age, the inability to sit unassisted and that has_material_basis_in a mutation or deletion in the telomeric copy of the SMN gene, known as SMN1, on chromosome 5q13.
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/?term=10700541

Axiom
annotated source: Werdnig-Hoffmann disease
annotated property: hasExactSynonym
annotated target: SMA1
has synonym type: OMO_0003012

crescentic glomerulonephritis
type: Class
subclass of: glomerulonephritis
has db xref: NCI:C128143
has db xref: SNOMEDCT_US_2023_03_01:45406000
has db xref: UMLS_CUI:C0403416
has OBO namespace: disease_ontology
id: DOID:13139
in subset: NCIthesaurus

uveitis
type: Class
subclass of: uveal disease
IAO_0000115: An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.
has db xref: ICD10CM:H20.9
has db xref: MESH:D014605
has db xref: NCI:C26909
has db xref: SNOMEDCT_US_2023_03_01:267719008
has db xref: UMLS_CUI:C0042164
has OBO namespace: disease_ontology
id: DOID:13141
in subset: NCIthesaurus

Axiom
annotated source: uveitis
annotated property: IAO_0000115
annotated target: An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.
type: ECO_0007637
has db xref: url:https://www.mayoclinic.org/diseases-conditions/uveitis/symptoms-causes/syc-20378734

benign secondary hypertension
type: Class
subclass of: secondary hypertension
has db xref: ICD9CM:405.1
has db xref: NCI:C3658
has db xref: SNOMEDCT_US_2023_03_01:44111003
has db xref: UMLS_CUI:C0155620
has OBO namespace: disease_ontology
id: DOID:13143
in subset: NCIthesaurus

esophageal candidiasis
type: Class
subclass of: candidiasis
IAO_0000115: A candidiasis that involves fungal infection of the esophagus by Candida albicans in immunocompromised people, resulting in lesions, bleeding, painful swallowing and substernal pain.
has db xref: ICD10CM:B37.81
has db xref: ICD9CM:112.84
has db xref: NCI:C27027
has db xref: SNOMEDCT_US_2023_03_01:20639004
has db xref: UMLS_CUI:C0239295
has exact synonym: Candida Esophagitis
has exact synonym: Candidal esophagitis
has exact synonym: Candidiasis of the esophagus
has exact synonym: esophageal moniliasis
has exact synonym: esophageal thrush
has OBO namespace: disease_ontology
id: DOID:13146
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: esophageal candidiasis
annotated property: IAO_0000115
annotated target: A candidiasis that involves fungal infection of the esophagus by Candida albicans in immunocompromised people, resulting in lesions, bleeding, painful swallowing and substernal pain.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Esophageal_candidiasis

fungal esophagitis
type: Class
subclass of: esophagitis
has db xref: NCI:C27107
has db xref: SNOMEDCT_US_2023_03_01:235602008
has db xref: UMLS_CUI:C0341109
has OBO namespace: disease_ontology
id: DOID:13147
in subset: DO infectious disease slim
in subset: NCIthesaurus

acute cystitis
type: Class
subclass of: cystitis
IAO_0000115: A cystitis characterized by a sudden onset or severe symptoms.
has db xref: ICD10CM:N30.0
has db xref: ICD9CM:595.0
has db xref: NCI:C26934
has db xref: SNOMEDCT_US_2023_03_01:197833009
has db xref: UMLS_CUI:C0149523
has OBO namespace: disease_ontology
id: DOID:13148
in subset: NCIthesaurus

Axiom
annotated source: acute cystitis
annotated property: IAO_0000115
annotated target: A cystitis characterized by a sudden onset or severe symptoms.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Urinary_tract_infection

scrotum squamous cell carcinoma
type: Class
subclass of: scrotal carcinoma
IAO_0000115: A squamous cell carcinoma that is located_in the scrotum.
has db xref: NCI:C4643
has db xref: SNOMEDCT_US_2023_03_01:276860003
has db xref: UMLS_CUI:C0349551
has exact synonym: Scrotal squamous cell carcinoma
has OBO namespace: disease_ontology
id: DOID:13159
in subset: NCIthesaurus

Axiom
annotated source: scrotum squamous cell carcinoma
annotated property: IAO_0000115
annotated target: A squamous cell carcinoma that is located_in the scrotum.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/26113906

scrotum melanoma
type: Class
subclass of: DOID 518
has db xref: NCI:C7361
has db xref: UMLS_CUI:C1331544
has exact synonym: melanoma of scrotum
has OBO namespace: disease_ontology
id: DOID:13160
in subset: NCIthesaurus

allergic bronchopulmonary aspergillosis
type: Class
subclass of: aspergillosis
IAO_0000115: 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.
has db xref: GARD:602
has db xref: ICD10CM:B44.81
has db xref: ICD9CM:518.6
has db xref: MESH:D001229
has db xref: MIM:103920
has db xref: NCI:C84547
has db xref: SNOMEDCT_US_2023_03_01:37981002
has db xref: UMLS_CUI:C0004031
has exact synonym: pulmonary aspergillus disease
has OBO namespace: disease_ontology
id: DOID:13166
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: allergic bronchopulmonary aspergillosis
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007637
type: ECO_0007640
has db xref: url:http://www.merck.com/mmhe/sec04/ch051/ch051d.html
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/000070.htm
comment: ls:IEDB

spermatic cord cancer
type: Class
subclass of: male reproductive organ cancer
has db xref: ICD10CM:C63.1
has db xref: ICD9CM:187.6
has db xref: NCI:C3559
has db xref: SNOMEDCT_US_2023_03_01:94065000
has db xref: UMLS_CUI:C0153603
has exact synonym: Spermatic cord Ca
has exact synonym: malignant tumor of spermatic cord
has exact synonym: malignant tumor of the Spermatic Cord
has OBO namespace: disease_ontology
id: DOID:13169
in subset: NCIthesaurus

megaesophagus
type: Class
subclass of: DOID 6050
has db xref: MESH:D004931
has db xref: NCI:C34811
has db xref: SNOMEDCT_US_2023_03_01:70667005
has db xref: UMLS_CUI:C0025164
has OBO namespace: disease_ontology
id: DOID:13186
in subset: NCIthesaurus

gout
type: Class
subclass of: DOID 848
IAO_0000115: An arthritis that has_material_basis_in uric acid crystal deposits located_in joint.
has alternative id: DOID:14144
has db xref: EFO:0004274
has db xref: ICD10CM:M10
has db xref: ICD9CM:274
has db xref: ICD9CM:274.0
has db xref: MESH:D006073
has db xref: MESH:D015210
has db xref: NCI:C34650
has db xref: SNOMEDCT_US_2023_03_01:201661008
has db xref: SNOMEDCT_US_2023_03_01:90560007
has db xref: UMLS_CUI:C0003868
has db xref: UMLS_CUI:C0018099
has exact synonym: Articular gout
has exact synonym: Gouty arthropathy
has exact synonym: gouty arthritis
has OBO namespace: disease_ontology
id: DOID:13189
in subset: NCIthesaurus

Axiom
annotated source: gout
annotated property: IAO_0000115
annotated target: An arthritis that has_material_basis_in uric acid crystal deposits located_in joint.
type: ECO_0007638
type: ECO_0007640
has db xref: url:http://en.wikipedia.org/wiki/Gout
has db xref: url:http://www.mayoclinic.com/health/gout/DS00090
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/000422.htm

brain cancer
type: Class
subclass of: central nervous system cancer
IAO_0000115: A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain.
has alternative id: DOID:2125
has alternative id: DOID:2126
has alternative id: DOID:3543
has alternative id: DOID:6649
has alternative id: DOID:911
has db xref: ICD10CM:C71
has db xref: ICD9CM:191
has db xref: ICD9CM:239.6
has db xref: MESH:D001932
has db xref: NCI:C170814
has db xref: NCI:C2907
has db xref: NCI:C3568
has db xref: NCI:C5115
has db xref: NCI:C7710
has db xref: SNOMEDCT_US_2023_03_01:126952004
has db xref: SNOMEDCT_US_2023_03_01:428061005
has db xref: SNOMEDCT_US_2023_03_01:93727008
has db xref: UMLS_CUI:C0006118
has db xref: UMLS_CUI:C0153633
has db xref: UMLS_CUI:C0220624
has db xref: UMLS_CUI:C0750974
has db xref: UMLS_CUI:C0750979
has db xref: UMLS_CUI:C1334557
has exact synonym: BT - Brain tumour
has exact synonym: adult brain tumor
has exact synonym: adult malignant brain neoplasm
has exact synonym: brain neoplasm
has exact synonym: brain neoplasm, adult
has exact synonym: malignant brain tumour
has exact synonym: malignant primary brain neoplasm
has exact synonym: malignant primary brain tumor
has exact synonym: malignant tumor of Brain
has exact synonym: malignant tumor of adult brain
has exact synonym: neoplasm of brain
has exact synonym: primary brain neoplasm
has exact synonym: primary brain tumor
has exact synonym: primary malignant neoplasm of brain
has exact synonym: tumor of the Brain
has OBO namespace: disease_ontology
id: DOID:1319
in subset: DO CFDE slim
in subset: DO FlyBase slim
in subset: DO RAD slim
in subset: DO cancer slim
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim

Axiom
annotated source: brain cancer
annotated property: IAO_0000115
annotated target: A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain.
type: ECO_0007637
type: ECO_0007641
has db xref: url:http://www.cancer.gov/dictionary?CdrID=387264

nontoxic goiter
type: Class
subclass of: goiter
has db xref: ICD10CM:E04.9
has db xref: NCI:C35271
has db xref: SNOMEDCT_US_2023_03_01:267369002
has db xref: UMLS_CUI:C0221777
has exact synonym: Goiter, non-toxic
has exact synonym: Goitre, non-toxic
has exact synonym: Nodule-thyroid, non tox
has exact synonym: Non-toxic goitre
has exact synonym: Non-toxic simple goitre
has OBO namespace: disease_ontology
id: DOID:13195
in subset: NCIthesaurus

nodular goiter
type: Class
subclass of: goiter
has db xref: MESH:D006044
has db xref: NCI:C131437
has db xref: SNOMEDCT_US_2023_03_01:237570007
has db xref: UMLS_CUI:C0018023
has exact synonym: Goiter, nodular
has exact synonym: nodular goitre
has OBO namespace: disease_ontology
id: DOID:13197
in subset: NCIthesaurus

endemic goiter
type: Class
subclass of: nutrition disease
IAO_0000115: A nutritional deficiency disease characterized by noncancerous enlargement of the thyroid gland and has_material_basis_in iodine deficiency.
has db xref: ICD10CM:E01.2
has db xref: ICD9CM:240.0
has db xref: MESH:D006043
has db xref: NCI:C35023
has db xref: SNOMEDCT_US_2023_03_01:271949009
has db xref: UMLS_CUI:C0018022
has exact synonym: Iodine-deficiency-related endemic goitre
has exact synonym: simple goitre
has OBO namespace: disease_ontology
id: DOID:13198
in subset: NCIthesaurus

Axiom
annotated source: endemic goiter
annotated property: IAO_0000115
annotated target: A nutritional deficiency disease characterized by noncancerous enlargement of the thyroid gland and has_material_basis_in iodine deficiency.
type: ECO_0007637
has db xref: url:https://medicalguidelines.msf.org/viewport/CG/english/endemic-goitre-and-iodine-deficiency-18482487.html

proliferative diabetic retinopathy
type: Class
subclass of: DOID 8947
has db xref: ICD9CM:362.02
has db xref: NCI:C84457
has db xref: SNOMEDCT_US_2023_03_01:154679002
has db xref: UMLS_CUI:C0154830
has exact synonym: PDR
has OBO namespace: disease_ontology
id: DOID:13207
in subset: NCIthesaurus

Axiom
annotated source: proliferative diabetic retinopathy
annotated property: hasExactSynonym
annotated target: PDR
has synonym type: OMO_0003012

background diabetic retinopathy
type: Class
subclass of: DOID 8947
has db xref: ICD9CM:362.03
has db xref: NCI:C35668
has db xref: SNOMEDCT_US_2023_03_01:390834004
has db xref: UMLS_CUI:C0004606
has exact synonym: Non proliferative diabetic retinopathy
has exact synonym: Non-Proliferative Diabetic Retinopathy
has OBO namespace: disease_ontology
id: DOID:13208
in subset: NCIthesaurus

uterine fibroid
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: An uterine benign neoplasm derived from the smooth muscle layer of the uterus.
has db xref: EFO:0000731
has db xref: ICD10CM:D25
has db xref: ICD9CM:218
has db xref: MESH:D007889
has db xref: MIM:150699
has db xref: NCI:C3434
has db xref: SNOMEDCT_US_2023_03_01:44598004
has db xref: UMLS_CUI:C0042133
has exact synonym: Plexiform leiomyoma
has exact synonym: UTERUS FIBROMA
has exact synonym: leiomyoma of Corpus Uteri
has exact synonym: uterine leiomyoma
has OBO namespace: disease_ontology
id: DOID:13223
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: uterine fibroid
annotated property: IAO_0000115
annotated target: An uterine benign neoplasm derived from the smooth muscle layer of the uterus.
type: ECO_0007638
type: ECO_0007644
has db xref: url:http://en.wikipedia.org/wiki/Uterine_fibroid
has db xref: url:http://www.nlm.nih.gov/medlineplus/uterinefibroids.html

Behcet's disease
type: Class
subclass of: disease
subclass of: DOID 865
IAO_0000115: An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.
has db xref: EFO:0003780
has db xref: GARD:848
has db xref: ICD10CM:M35.2
has db xref: ICD9CM:136.1
has db xref: MESH:D001528
has db xref: MIM:109650
has db xref: NCI:C34416
has db xref: SNOMEDCT_US_2023_03_01:310701003
has db xref: UMLS_CUI:C0004943
has exact synonym: Adamantiades-Behcet disease
has exact synonym: Behcet syndrome
has exact synonym: Behet's syndrome
has exact synonym: triple symptom complex
has OBO namespace: disease_ontology
has related synonym: Behcet's syndrome
id: DOID:13241
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Behcet's disease
annotated property: IAO_0000115
annotated target: An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.
type: ECO_0007638
type: ECO_0007644
has db xref: url:http://en.wikipedia.org/wiki/Beh%C3%A7et%27s_disease
has db xref: url:http://www.nlm.nih.gov/medlineplus/behcetssyndrome.html
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK470257/

mucocele of appendix
type: Class
subclass of: DOID 5295
has db xref: NCI:C3241
has db xref: SNOMEDCT_US_2023_03_01:53773002
has db xref: UMLS_CUI:C0026684
has exact synonym: Appendicele Mucocele
has OBO namespace: disease_ontology
id: DOID:13248
in subset: NCIthesaurus

typhoid fever
type: Class
subclass of: bacterial infectious disease
IAO_0000115: A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia.
has alternative id: DOID:3054
has db xref: GARD:9564
has db xref: ICD10CM:A01.0
has db xref: ICD9CM:002.0
has db xref: MESH:D014435
has db xref: NCI:C35089
has db xref: SNOMEDCT_US_2023_03_01:186091002
has db xref: UMLS_CUI:C0041466
has exact synonym: Typhoid
has OBO namespace: disease_ontology
id: DOID:13258
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus
in subset: gram-negative bacterial infectious disease

Axiom
annotated source: typhoid fever
annotated property: IAO_0000115
annotated target: A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia.
type: ECO_0007643
has db xref: url:http://www.merriam-webster.com/medlineplus/typhoid%20fever

porphyria
type: Class
subclass of: DOID 655
IAO_0000115: An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins.
has db xref: GARD:10353
has db xref: ICD10CM:E80.20
has db xref: ICD9CM:277.1
has db xref: MESH:D011164
has db xref: NCI:C97096
has db xref: SNOMEDCT_US_2023_03_01:190912004
has db xref: UMLS_CUI:C0032708
has exact synonym: Hematoporphyria
has exact synonym: Porphyrinopathy
has exact synonym: disorder of porphyrin and hem metabolism
has exact synonym: disorder of porphyrin metabolism
has OBO namespace: disease_ontology
id: DOID:13268
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: porphyria
annotated property: IAO_0000115
annotated target: An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Porphyria#Subtypes
has db xref: url:https://www.genome.gov/Genetic-Disorders/Porphyria

hereditary coproporphyria
type: Class
subclass of: porphyria
has db xref: GARD:6619
has db xref: ICD10CM:E80.29
has db xref: MESH:D046349
has db xref: MIM:121300
has db xref: NCI:C84759
has db xref: SNOMEDCT_US_2023_03_01:7425008
has db xref: UMLS_CUI:C0162531
has exact synonym: Coproporphyrinogen oxidase deficiency
has exact synonym: hereditary coproporphyria porphyria
has OBO namespace: disease_ontology
id: DOID:13269
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

erythropoietic protoporphyria
type: Class
subclass of: porphyria
IAO_0000115: An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue.
has db xref: GARD:4527
has db xref: ICD10CM:E80.0
has db xref: MESH:D046351
has db xref: MIM:177000
has db xref: MIM:300752
has db xref: NCI:C84698
has db xref: ORDO:79278
has db xref: SNOMEDCT_US_2023_03_01:51022005
has db xref: UMLS_CUI:C0162568
has exact synonym: EPP
has exact synonym: Protoporphyria
has OBO namespace: disease_ontology
id: DOID:13270
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: erythropoietic protoporphyria
annotated property: IAO_0000115
annotated target: An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Erythropoietic_protoporphyria

Axiom
annotated source: erythropoietic protoporphyria
annotated property: hasExactSynonym
annotated target: EPP
has synonym type: OMO_0003012

cutaneous porphyria
type: Class
subclass of: porphyria
has db xref: GARD:4446
has db xref: ICD10CM:E80.0
has db xref: MESH:D017092
has db xref: MIM:263700
has db xref: NCI:C84697
has db xref: SNOMEDCT_US_2023_03_01:67312003
has db xref: UMLS_CUI:C0162530
has exact synonym: Erythropoietic porphyria
has OBO namespace: disease_ontology
id: DOID:13271
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Rift Valley fever
type: Class
subclass of: DOID 934
IAO_0000115: A viral infectious disease that results_in infection, has_material_basis_in Rift Valley fever virus (Phlebovirus riftense), which is transmitted_by Aedes mosquitoes. The virus affects domestic animals (cattle, buffalo, sheep, goats, and camels) and humans. The infection has_symptom jaundice, has_symptom vomiting blood, has_symptom passing blood in the feces, has_symptom ecchymoses (caused by bleeding in the skin), has_symptom bleeding from the nose or gums, has_symptom menorrhagia and has_symptom bleeding from venepuncture sites.
has db xref: ICD10CM:A92.4
has db xref: MESH:D012295
has db xref: NCI:C128419
has db xref: ORDO:319251
has db xref: SNOMEDCT_US_2025_05_01:402917003
has db xref: UMLS_CUI:C0035613
has OBO namespace: disease_ontology
id: DOID:1328
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus
in subset: zoonotic infectious disease

Axiom
annotated source: Rift Valley fever
annotated property: IAO_0000115
annotated target: A viral infectious disease that results_in infection, has_material_basis_in Rift Valley fever virus (Phlebovirus riftense), which is transmitted_by Aedes mosquitoes. The virus affects domestic animals (cattle, buffalo, sheep, goats, and camels) and humans. The infection has_symptom jaundice, has_symptom vomiting blood, has_symptom passing blood in the feces, has_symptom ecchymoses (caused by bleeding in the skin), has_symptom bleeding from the nose or gums, has_symptom menorrhagia and has_symptom bleeding from venepuncture sites.
type: ECO_0007637
has db xref: url:http://www.who.int/mediacentre/factsheets/fs207/en/
has db xref: url:https://pmc.ncbi.nlm.nih.gov/articles/PMC8009587/
has db xref: url:https://www.who.int/news-room/fact-sheets/detail/rift-valley-fever

vaginal Mullerian papilloma
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A vaginal benign neoplasm that presents in childhood and is considered to be of Mullerian origin.
has db xref: NCI:C40255
has db xref: UMLS_CUI:C1519926
has exact synonym: vaginal Muellerian papilloma
has OBO namespace: disease_ontology
id: DOID:133
in subset: NCIthesaurus

Axiom
annotated source: vaginal Mullerian papilloma
annotated property: IAO_0000115
annotated target: A vaginal benign neoplasm that presents in childhood and is considered to be of Mullerian origin.
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/26948653

Scheuermann's disease
type: Class
subclass of: DOID 8125
IAO_0000115: An osteochondrosis that results_in abnormal bone growth and curvature located_in thoracic vertebral column.
has db xref: GARD:7610
has db xref: ICD10CM:M42.0
has db xref: ICD9CM:732.0
has db xref: MESH:D012544
has db xref: MIM:181440
has db xref: NCI:C34999
has db xref: SNOMEDCT_US_2023_03_01:53406005
has db xref: UMLS_CUI:C0036310
has exact synonym: Juvenile osteochondritis of the spine
has exact synonym: Juvenile osteochondrosis of Scheurermann
has exact synonym: Juvenile osteochondrosis of spine
has exact synonym: Scheuermann's kyphosis
has exact synonym: Sherman's Disease
has narrow synonym: Scheuermann disease
has OBO namespace: disease_ontology
id: DOID:13300
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Scheuermann's disease
annotated property: IAO_0000115
annotated target: An osteochondrosis that results_in abnormal bone growth and curvature located_in thoracic vertebral column.
type: ECO_0007638
type: ECO_0007643
has db xref: url:http://en.wikipedia.org/wiki/Scheuermann%27s_disease
has db xref: url:https://www.merriam-webster.com/medical/Scheuermann%27s%20disease

pancreatic mucinous ductal ectasia
type: Class
subclass of: endocrine system disease
has db xref: NCI:C5717
has db xref: UMLS_CUI:C1335310
has OBO namespace: disease_ontology
id: DOID:13313
in subset: NCIthesaurus

exocrine pancreatic insufficiency
type: Class
subclass of: endocrine system disease
IAO_0000115: A pancreas disease that is characterized by the inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine.
has db xref: ICD10CM:K86.81
has db xref: MESH:D010188
has db xref: NCI:C84316
has db xref: SNOMEDCT_US_2023_03_01:47367009
has db xref: UMLS_CUI:C0267963
has exact synonym: EPI
has OBO namespace: disease_ontology
id: DOID:13316
in subset: NCIthesaurus

Axiom
annotated source: exocrine pancreatic insufficiency
annotated property: IAO_0000115
annotated target: A pancreas disease that is characterized by the inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine.
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK555926/

Axiom
annotated source: exocrine pancreatic insufficiency
annotated property: hasExactSynonym
annotated target: EPI
has synonym type: OMO_0003012

hyperinsulinemic hypoglycemia
type: Class
subclass of: carbohydrate metabolic disorder
IAO_0000115: A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin.
has alternative id: DOID:9996
has db xref: ICD10CM:E16.9
has db xref: MESH:D046768
has db xref: MIM:PS256450
has db xref: NCI:C4375
has db xref: SNOMEDCT_US_2023_03_01:42681006
has db xref: UMLS_CUI:C0027773
has exact synonym: Islet cell hyperplasia
has exact synonym: nesidioblastosis
has exact synonym: persistent hyperinsulinemia hypoglycemia of infancy
has OBO namespace: disease_ontology
id: DOID:13317
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: hyperinsulinemic hypoglycemia
annotated property: IAO_0000115
annotated target: A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Hyperinsulinemic_hypoglycemia

congenital toxoplasmosis
type: Class
subclass of: DOID 9965
IAO_0000115: A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur.
has db xref: GARD:10326
has db xref: ICD10CM:P37.1
has db xref: MESH:D014125
has db xref: NCI:C50503
has db xref: ORDO:858
has db xref: SNOMEDCT_US_2023_03_01:268875000
has db xref: UMLS_CUI:C0040560
has exact synonym: Toxoplasmosis - congen.
has OBO namespace: disease_ontology
id: DOID:13336
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: congenital toxoplasmosis
annotated property: IAO_0000115
annotated target: A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur.
type: ECO_0007637
type: ECO_0007645
has db xref: url:http://www.merck.com/mmpe/sec14/ch186/ch186h.html?qt=toxoplasmosis&alt=sh
has db xref: url:http://www.who.int/bulletin/volumes/91/7/12-111732.pdf

pedophilia
type: Class
subclass of: disease of mental health
has db xref: ICD10CM:F65.4
has db xref: ICD9CM:302.2
has db xref: MESH:D010378
has db xref: NCI:C94355
has db xref: SNOMEDCT_US_2023_03_01:192516001
has db xref: UMLS_CUI:C0030764
has exact synonym: Paedophilia
has OBO namespace: disease_ontology
id: DOID:13351
in subset: NCIthesaurus

Ehlers-Danlos syndrome
type: Class
subclass of: DOID 854
IAO_0000115: A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules.
has alternative id: DOID:14696
has db xref: GARD:6322
has db xref: ICD10CM:Q79.6
has db xref: ICD9CM:756.83
has db xref: MESH:D004535
has db xref: MIM:PS130000
has db xref: NCI:C34568
has db xref: SNOMEDCT_US_2023_03_01:268352002
has db xref: UMLS_CUI:C0013720
has exact synonym: Cutis hyperelastica
has exact synonym: elastic skin
has OBO namespace: disease_ontology
id: DOID:13359
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS]. OMIM mapping by NeuroDevNet. [LS].

Axiom
annotated source: Ehlers-Danlos syndrome
annotated property: IAO_0000115
annotated target: A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007643
type: ECO_0007644
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/Ehlers%E2%80%93Danlos_syndrome
has db xref: url:http://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome
has db xref: url:http://www.mayoclinic.com/health/ehlers-danlos-syndrome/DS00706
has db xref: url:http://www.merriam-webster.com/medlineplus/ehlers-Danlos
has db xref: url:http://www.nlm.nih.gov/medlineplus/ehlersdanlossyndrome.html
has db xref: url:https://www.ehlers-danlos.com/what-is-eds/
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/23711271

Stiff-Person syndrome
type: Class
subclass of: DOID 480
IAO_0000115: A movement disease that is of unknown etiology characterized by progressive rigidity.
has db xref: GARD:5023
has db xref: ICD10CM:G25.82
has db xref: ICD9CM:333.91
has db xref: MESH:D016750
has db xref: MIM:184850
has db xref: NCI:C85170
has db xref: SNOMEDCT_US_2023_03_01:5217008
has db xref: UMLS_CUI:C0085292
has exact synonym: Stiff-man syndrome
has exact synonym: stiff man syndrome
has OBO namespace: disease_ontology
id: DOID:13366
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Stiff-Person syndrome
annotated property: IAO_0000115
annotated target: A movement disease that is of unknown etiology characterized by progressive rigidity.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Stiff_person_syndrome
comment: ls:IEDB

alpha 1-antitrypsin deficiency
type: Class
subclass of: DOID 655
IAO_0000115: A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells.
has db xref: GARD:5784
has db xref: ICD10CM:E88.01
has db xref: ICD9CM:273.4
has db xref: MESH:D019896
has db xref: MIM:613490
has db xref: NCI:C84397
has db xref: SNOMEDCT_US_2023_03_01:30188007
has db xref: UMLS_CUI:C0221757
has exact synonym: AAT deficiency
has OBO namespace: disease_ontology
id: DOID:13372
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: alpha 1-antitrypsin deficiency
annotated property: IAO_0000115
annotated target: A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells.
type: ECO_0007638
type: ECO_0007640
has db xref: url:http://en.wikipedia.org/wiki/Alpha_1-antitrypsin_deficiency
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/000120.htm
has db xref: url:https://alpha1.org/what-is-alpha1/
has db xref: url:https://www.genome.gov/Genetic-Disorders/Alpha-1-Antitrypsin-Deficiency

fibrodysplasia ossificans progressiva
type: Class
subclass of: DOID 65
IAO_0000115: A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene.
has db xref: GARD:6445
has db xref: ICD10CM:M61.1
has db xref: ICD9CM:728.11
has db xref: MESH:D009221
has db xref: MIM:135100
has db xref: NCI:C3040
has db xref: ORDO:337
has db xref: SNOMEDCT_US_2023_03_01:82725007
has db xref: UMLS_CUI:C0016037
has exact synonym: Stone Man Syndrome
has exact synonym: myositis ossificans progressiva
has exact synonym: progressive myositis ossificans
has exact synonym: progressive ossifying myositis
has OBO namespace: disease_ontology
id: DOID:13374
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: fibrodysplasia ossificans progressiva
annotated property: IAO_0000115
annotated target: A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/Fibrodysplasia_ossificans_progressiva
has db xref: url:http://ghr.nlm.nih.gov/condition/fibrodysplasia-ossificans-progressiva
has db xref: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2424023/
has db xref: url:https://www.ucsfbenioffchildrens.org/conditions/fibrodysplasia-ossificans-progressiva

temporal arteritis
type: Class
subclass of: DOID 525
IAO_0000115: A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head.
has db xref: ICD9CM:446.5
has db xref: MESH:D013700
has db xref: MIM:187360
has db xref: NCI:C35065
has db xref: ORDO:397
has db xref: SNOMEDCT_US_2023_03_01:195354005
has db xref: UMLS_CUI:C0039483
has exact synonym: Horton's disease
has exact synonym: giant cell arteritis
has OBO namespace: disease_ontology
id: DOID:13375
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: temporal arteritis
annotated property: IAO_0000115
annotated target: A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head.
has db xref: url:https://www.mayoclinic.org/diseases-conditions/giant-cell-arteritis/symptoms-causes/syc-20372758

Kawasaki disease
type: Class
subclass of: lymphadenitis
IAO_0000115: A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels and that symptoms of fever, congestion of ocular conjunctivae, reddening of lips, reddening of oral cavity, protuberance of tongue papillae and edema of extremities.
has db xref: EFO:0004246
has db xref: GARD:6816
has db xref: ICD10CM:M30.3
has db xref: ICD9CM:446.1
has db xref: MESH:D009080
has db xref: MIM:611775
has db xref: NCI:C34825
has db xref: SNOMEDCT_US_2023_03_01:75053002
has db xref: UMLS_CUI:C0026691
has exact synonym: Kawasaki's disease
has exact synonym: MLNS
has exact synonym: acute febrile MCLS
has exact synonym: acute febrile mucocutaneous lymph node syndrome
has exact synonym: mucocutaneous lymph node syndrome
has OBO namespace: disease_ontology
id: DOID:13378
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Kawasaki disease
annotated property: IAO_0000115
annotated target: A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels and that symptoms of fever, congestion of ocular conjunctivae, reddening of lips, reddening of oral cavity, protuberance of tongue papillae and edema of extremities.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Kawasaki_disease

Axiom
annotated source: Kawasaki disease
annotated property: hasExactSynonym
annotated target: MLNS
has synonym type: OMO_0003012

congenital dyserythropoietic anemia
type: Class
subclass of: DOID 589
IAO_0000115: A congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood.
has db xref: GARD:1999
has db xref: ICD10CM:D64.4
has db xref: MESH:D000742
has db xref: MIM:PS224120
has db xref: NCI:C84646
has db xref: ORDO:85
has db xref: SNOMEDCT_US_2023_03_01:191272005
has db xref: UMLS_CUI:C0002876
has exact synonym: congenital dyshaematopoietic anaemia
has OBO namespace: disease_ontology
id: DOID:1338
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: congenital dyserythropoietic anemia
annotated property: IAO_0000115
annotated target: A congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood.
type: ECO_0007638
type: ECO_0007646
has db xref: url:http://en.wikipedia.org/wiki/Congenital_dyserythropoietic_anemia
has db xref: url:http://www.ncbi.nlm.nih.gov/books/NBK5313/

pernicious anemia
type: Class
subclass of: nutrition disease
IAO_0000115: A nutritional deficiency disease that is characterized by a decrease in red blood cells due to malabsorption of vitamin B12, has_symptom fatigue, pallor, shortness of breath, glossitis, ataxia, and/or paresthesia, has_material_basis_in atrophic gastritis, autoimmune disorder affecting the production or function of intrinsic factor, and/or genetic factors.
has db xref: GARD:12671
has db xref: ICD10CM:D51.0
has db xref: ICD9CM:281.0
has db xref: MESH:D000752
has db xref: MIM:170900
has db xref: NCI:C2871
has db xref: SNOMEDCT_US_2023_03_01:191139001
has db xref: UMLS_CUI:C0002892
has exact synonym: ANEMIA PERNICIOUS
has exact synonym: Addison's anaemia
has exact synonym: Biermer's anaemia
has exact synonym: Biermer's anemia
has exact synonym: pernicious anaemia
has OBO namespace: disease_ontology
id: DOID:13381
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: pernicious anemia
annotated property: IAO_0000115
annotated target: A nutritional deficiency disease that is characterized by a decrease in red blood cells due to malabsorption of vitamin B12, has_symptom fatigue, pallor, shortness of breath, glossitis, ataxia, and/or paresthesia, has_material_basis_in atrophic gastritis, autoimmune disorder affecting the production or function of intrinsic factor, and/or genetic factors.
type: ECO_0007645
has db xref: url:https://medlineplus.gov/ency/article/000569.htm
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3441227/

megaloblastic anemia
type: Class
subclass of: macrocytic anemia
IAO_0000115: A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production.
has db xref: ICD10CM:D53.1
has db xref: MESH:D000749
has db xref: MIM:261100
has db xref: MIM:613839
has db xref: NCI:C34382
has db xref: SNOMEDCT_US_2023_03_01:191138009
has db xref: UMLS_CUI:C0002888
has exact synonym: Grasbeck-Imerslund syndrome
has exact synonym: Imerslund-Grasbeck syndrome
has exact synonym: MGA1 Norwegian type
has exact synonym: RH-MGA1
has exact synonym: megaloblastic anaemia
has exact synonym: recessive hereditary megaloblastic anaemia 1
has exact synonym: recessive hereditary megaloblastic anemia 1
has OBO namespace: disease_ontology
has related synonym: IGS
id: DOID:13382
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: megaloblastic anemia
annotated property: IAO_0000115
annotated target: A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Megaloblastic_anemia

Axiom
annotated source: megaloblastic anemia
annotated property: hasExactSynonym
annotated target: RH-MGA1
has synonym type: OMO_0003012

Axiom
annotated source: megaloblastic anemia
annotated property: hasRelatedSynonym
annotated target: IGS
has synonym type: OMO_0003012

labia majora carcinoma
type: Class
subclass of: vulva carcinoma
IAO_0000115: A vulva carcinoma that is located_in the labia majora.
has db xref: NCI:C9363
has db xref: UMLS_CUI:C1334356
has exact synonym: Labia Majora cancer
has OBO namespace: disease_ontology
has related synonym: carcinoma of labia majora
id: DOID:13389
in subset: NCIthesaurus

Axiom
annotated source: labia majora carcinoma
annotated property: IAO_0000115
annotated target: A vulva carcinoma that is located_in the labia majora.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/27917514

Diamond-Blackfan anemia
type: Class
subclass of: pure red-cell aplasia
IAO_0000115: A pure red-cell aplasia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction.
has db xref: GARD:6274
has db xref: ICD10CM:D61.01
has db xref: MESH:D029503
has db xref: MIM:PS105650
has db xref: NCI:C61236
has db xref: ORDO:124
has exact synonym: Blackfan - Diamond syndrome
has exact synonym: chronic constitutional pure red cell anaemia
has OBO namespace: disease_ontology
id: DOID:1339
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Diamond-Blackfan anemia
annotated property: IAO_0000115
annotated target: A pure red-cell aplasia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Diamond%E2%80%93Blackfan_anemia
has db xref: url:http://ghr.nlm.nih.gov/condition/diamond-blackfan-anemia
has db xref: url:http://www.cdc.gov/ncbddd/dba/
has db xref: url:http://www.omim.org/entry/105650

color blindness
type: Class
subclass of: DOID 5614
IAO_0000115: A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions.
has db xref: ICD10CM:H53.5
has db xref: ICD9CM:368.5
has db xref: MESH:D003117
has db xref: NCI:C3891
has db xref: SNOMEDCT_US_2023_03_01:193683001
has db xref: UMLS_CUI:C0242225
has exact synonym: BLINDNESS COLOR
has exact synonym: Colour blindness
has exact synonym: Colour vision deficiency
has OBO namespace: disease_ontology
id: DOID:13399
in subset: NCIthesaurus

Axiom
annotated source: color blindness
annotated property: IAO_0000115
annotated target: A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Color_blindness

vaginal glandular tumor
type: Class
subclass of: vaginal cancer
IAO_0000115: A vaginal cancer that has_material_basis_in glandular tissue.
has db xref: NCI:C40250
has db xref: UMLS_CUI:C1519921
has OBO namespace: disease_ontology
id: DOID:134
in subset: NCIthesaurus

Axiom
annotated source: vaginal glandular tumor
annotated property: IAO_0000115
annotated target: A vaginal cancer that has_material_basis_in glandular tissue.
has db xref: url:https://www.mayoclinic.org/diseases-conditions/vaginal-cancer/symptoms-causes/syc-20352447

pure red-cell aplasia
type: Class
subclass of: aplastic anemia
IAO_0000115: A congenital hypoplastic anemia that is characterized by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow.
has db xref: GARD:7504
has db xref: MESH:D012010
has db xref: NCI:C34974
has db xref: SNOMEDCT_US_2023_03_01:191252000
has db xref: UMLS_CUI:C0034902
has exact synonym: Red cell hypoplasia
has exact synonym: primary red cell aplasia
has exact synonym: pure red cell aplasia
has OBO namespace: disease_ontology
id: DOID:1340
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: pure red-cell aplasia
annotated property: IAO_0000115
annotated target: A congenital hypoplastic anemia that is characterized by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow.
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6142432/

skin sarcoidosis
type: Class
subclass of: sarcoidosis
has db xref: ICD10CM:D86.3
has db xref: NCI:C34996
has db xref: SNOMEDCT_US_2023_03_01:55941000
has db xref: UMLS_CUI:C0036203
has exact synonym: Cutaneous sarcoid
has exact synonym: cutaneous sarcoidosis
has OBO namespace: disease_ontology
id: DOID:13402
in subset: NCIthesaurus

neurosarcoidosis
type: Class
subclass of: sarcoidosis
IAO_0000115: A sarcoidosis that is characterized by involvement of the nervous symptom with cranial nerve palsy, diffuse meningeal disease, acute polyneuropathy, myelitis, or hypothalamic pituitary axis malformation, develops_from a type IV hypersensitivity reaction with noncaseating granulomas involving the nervous system.
has db xref: NCI:C35441
has db xref: SNOMEDCT_US_2023_03_01:111936002
has db xref: UMLS_CUI:C0398676
has exact synonym: cerebral sarcoidosis
has OBO namespace: disease_ontology
id: DOID:13403
in subset: NCIthesaurus

Axiom
annotated source: neurosarcoidosis
annotated property: IAO_0000115
annotated target: A sarcoidosis that is characterized by involvement of the nervous symptom with cranial nerve palsy, diffuse meningeal disease, acute polyneuropathy, myelitis, or hypothalamic pituitary axis malformation, develops_from a type IV hypersensitivity reaction with noncaseating granulomas involving the nervous system.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3975794/

cardiac sarcoidosis
type: Class
subclass of: sarcoidosis
IAO_0000115: A sarcoidosis that is characterized by conduction abnormalities, arrhythmias, and congestive heart failure with noncaseating granulomas present on endomyocardial biopsy, and develops_from a type IV hypersensitivity reaction with noncaseating granulomas infiltrating the myocardial tissue, especially that of the left ventricle.
has db xref: NCI:C35589
has db xref: SNOMEDCT_US_2023_03_01:75403004
has db xref: UMLS_CUI:C0392077
has OBO namespace: disease_ontology
id: DOID:13405
in subset: NCIthesaurus

Axiom
annotated source: cardiac sarcoidosis
annotated property: IAO_0000115
annotated target: A sarcoidosis that is characterized by conduction abnormalities, arrhythmias, and congestive heart failure with noncaseating granulomas present on endomyocardial biopsy, and develops_from a type IV hypersensitivity reaction with noncaseating granulomas infiltrating the myocardial tissue, especially that of the left ventricle.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731586/

pulmonary sarcoidosis
type: Class
subclass of: sarcoidosis
IAO_0000115: A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.
has db xref: ICD10CM:D86.0
has db xref: MEDDRA:10037430
has db xref: MESH:D017565
has db xref: NCI:C34997
has db xref: SNOMEDCT_US_2023_03_01:187230004
has db xref: UMLS_CUI:C0036205
has exact synonym: lung Sarcoidosis
has OBO namespace: disease_ontology
id: DOID:13406
in subset: NCIthesaurus

Axiom
annotated source: pulmonary sarcoidosis
annotated property: IAO_0000115
annotated target: A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.
type: ECO_0007645
has db xref: url:https://www.atsjournals.org/doi/full/10.1164/rccm.201006-0865CI

hypercalcemic sarcoidosis
type: Class
subclass of: sarcoidosis
has db xref: NCI:C35807
has db xref: UMLS_CUI:C1334067
has OBO namespace: disease_ontology
id: DOID:13407
in subset: NCIthesaurus

perforation of bile duct
type: Class
subclass of: hepatobiliary disease
has db xref: ICD10CM:K83.2
has db xref: ICD9CM:576.3
has db xref: NCI:C78528
has db xref: SNOMEDCT_US_2023_03_01:37439003
has db xref: UMLS_CUI:C0156218
has OBO namespace: disease_ontology
id: DOID:13409
in subset: NCIthesaurus

hepatic encephalopathy
type: Class
subclass of: DOID 936
IAO_0000115: A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood.
has db xref: GARD:10452
has db xref: ICD10CM:K76.82
has db xref: ICD9CM:572.2
has db xref: MESH:D006501
has db xref: NCI:C79596
has db xref: SNOMEDCT_US_2023_03_01:197332007
has db xref: UMLS_CUI:C0019151
has exact synonym: Portal-systemic encephalopathy
has OBO namespace: disease_ontology
id: DOID:13413
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: hepatic encephalopathy
annotated property: IAO_0000115
annotated target: A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Hepatic_encephalopathy

urethritis
type: Class
subclass of: DOID 732
has alternative id: DOID:2863
has db xref: ICD10CM:N34.2
has db xref: ICD9CM:597.80
has db xref: MESH:D014526
has db xref: NCI:C26904
has db xref: SNOMEDCT_US_2023_03_01:154388003
has db xref: SNOMEDCT_US_2023_03_01:31822004
has db xref: UMLS_CUI:C0041976
has db xref: UMLS_CUI:C0311389
has exact synonym: Non-Gonococcal Urethritis
has exact synonym: Nongonococcal urethritis
has OBO namespace: disease_ontology
id: DOID:1343
in subset: NCIthesaurus

glanders
type: Class
subclass of: bacterial infectious disease
IAO_0000115: A primary bacterial infectious disease that results in septicemic infection, has_material_basis_in Burkholderia mallei, which is transmitted by contact with tissues or body fluids of infected animals, or through mucosal surfaces such as the eyes and nose. The infection has symptom fever, has symptom chills, has symptom sweating, has symptom muscle aches, has symptom chest pain, has symptom muscle tightness, has symptom headache, has symptom mucopurulent nasal discharge, and has symptom nodular lesions in the lungs.
has db xref: GARD:9536
has db xref: ICD10CM:A24.0
has db xref: ICD9CM:024
has db xref: MESH:D005896
has db xref: NCI:C34638
has db xref: SNOMEDCT_US_2023_03_01:4639008
has db xref: UMLS_CUI:C0017589
has exact synonym: Farcy pipes
has exact synonym: Infection due to Pseudomonas mallei
has OBO namespace: disease_ontology
id: DOID:13444
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus
in subset: gram-negative bacterial infectious disease
in subset: zoonotic infectious disease

Axiom
annotated source: glanders
annotated property: IAO_0000115
annotated target: A primary bacterial infectious disease that results in septicemic infection, has_material_basis_in Burkholderia mallei, which is transmitted by contact with tissues or body fluids of infected animals, or through mucosal surfaces such as the eyes and nose. The infection has symptom fever, has symptom chills, has symptom sweating, has symptom muscle aches, has symptom chest pain, has symptom muscle tightness, has symptom headache, has symptom mucopurulent nasal discharge, and has symptom nodular lesions in the lungs.
type: ECO_0007637
has db xref: url:http://www.cdc.gov/nczved/divisions/dfbmd/diseases/glanders/

coccidioidomycosis
type: Class
subclass of: fungal infectious disease
IAO_0000115: 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.
has alternative id: DOID:13981
has db xref: GARD:9525
has db xref: ICD10CM:B38
has db xref: ICD9CM:114
has db xref: MESH:D003047
has db xref: NCI:C84642
has db xref: SNOMEDCT_US_2023_03_01:266218008
has db xref: UMLS_CUI:C0009186
has exact synonym: primary extrapulmonary coccidioidomycosis
has OBO namespace: disease_ontology
id: DOID:13450
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: coccidioidomycosis
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007637
has db xref: url:http://www.merck.com/mmhe/sec17/ch197/ch197e.html

scleritis
type: Class
subclass of: scleral disease
has db xref: GARD:12911
has db xref: ICD10CM:H15.0
has db xref: ICD9CM:379.00
has db xref: MESH:D015423
has db xref: NCI:C119046
has db xref: SNOMEDCT_US_2023_03_01:155201000
has db xref: UMLS_CUI:C0036416
has OBO namespace: disease_ontology
id: DOID:13452
in subset: DO rare slim
in subset: NCIthesaurus

supraglottis cancer
type: Class
subclass of: larynx cancer
has db xref: ICD10CM:C32.1
has db xref: ICD9CM:161.1
has db xref: NCI:C3545
has db xref: SNOMEDCT_US_2023_03_01:187842004
has db xref: UMLS_CUI:C0153484
has exact synonym: Ca larynx - supraglottis
has exact synonym: malignant Supraglottic tumor
has exact synonym: malignant neoplasm of extrinsic larynx
has exact synonym: malignant neoplasm of supraglottis
has exact synonym: malignant tumor of supraglottis
has exact synonym: supraglottis
has OBO namespace: disease_ontology
id: DOID:13476
in subset: NCIthesaurus

balanitis xerotica obliterans
type: Class
subclass of: balanitis
IAO_0000115: A balantitis characterized by white plaques or patches on genitals.
has db xref: ICD9CM:607.81
has db xref: NCI:C3523
has db xref: SNOMEDCT_US_2023_03_01:198028006
has db xref: UMLS_CUI:C0152460
has exact synonym: Penile Lichen Sclerosus
has OBO namespace: disease_ontology
id: DOID:13477
in subset: NCIthesaurus

Axiom
annotated source: balanitis xerotica obliterans
annotated property: IAO_0000115
annotated target: A balantitis characterized by white plaques or patches on genitals.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/24295833

thanatophoric dysplasia
type: Class
subclass of: osteochondrodysplasia
IAO_0000115: An osteochondrodysplasia that results_in short arms and legs with excess folds of skin.
has db xref: GARD:85
has db xref: ICD10CM:Q77.1
has db xref: MESH:D013796
has db xref: MIM:187600
has db xref: MIM:187601
has db xref: MIM:273680
has db xref: NCI:C85187
has db xref: ORDO:1860
has db xref: ORDO:2655
has db xref: ORDO:93274
has db xref: ORDO:93275
has db xref: SNOMEDCT_US_2023_03_01:29352008
has db xref: UMLS_CUI:C0039743
has OBO namespace: disease_ontology
id: DOID:13481
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: thanatophoric dysplasia
annotated property: IAO_0000115
annotated target: An osteochondrodysplasia that results_in short arms and legs with excess folds of skin.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Thanatophoric_dysplasia
has db xref: url:http://ghr.nlm.nih.gov/condition/thanatophoric-dysplasia

Proteus syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by highly variable, progressive features including asymmetric and disproportionate overgrowth of body parts, connective tissue nevi, epidermal nevi, dysregulated adipose tissue, vascular malformations, dysmorphic facies with seizures or intellectual disability, and tumors that has_material_basis_in mosaicism for a somatic activating mutation in the AKT1 gene on chromosome 14q32.3. There is significant risk of deep vein thrombosis.
has db xref: GARD:7475
has db xref: MESH:D016715
has db xref: MIM:176920
has db xref: NCI:C85032
has db xref: ORDO:744
has db xref: SNOMEDCT_US_2025_05_01:23150001
has db xref: UMLS_CUI:C0085261
has OBO namespace: disease_ontology
has related synonym: Wiedemann's syndrome
id: DOID:13482
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Proteus syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by highly variable, progressive features including asymmetric and disproportionate overgrowth of body parts, connective tissue nevi, epidermal nevi, dysregulated adipose tissue, vascular malformations, dysmorphic facies with seizures or intellectual disability, and tumors that has_material_basis_in mosaicism for a somatic activating mutation in the AKT1 gene on chromosome 14q32.3. There is significant risk of deep vein thrombosis.
type: ECO_0007645
type: ECO_0007646
has db xref: url:https://ghr.nlm.nih.gov/condition/proteus-syndrome
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/23992099/
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK99495/

childhood disintegrative disease
type: Class
subclass of: disease of mental health
IAO_0000115: A pervasive developmental disorder that is a rare condition characterized by late onset (greater than 3 years of age) of developmental delays in language, social function, and motor skills where children who have had previously normal development who then appear to regress.
has db xref: GARD:6040
has db xref: ICD10CM:F84.3
has db xref: ICD9CM:299.1
has db xref: NCI:C97164
has db xref: SNOMEDCT_US_2023_03_01:71961003
has db xref: UMLS_CUI:C0236791
has exact synonym: Disintegrative psychosis
has exact synonym: Heller's syndrome
has exact synonym: Symbiotic psychosis
has OBO namespace: disease_ontology
id: DOID:13487
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: childhood disintegrative disease
annotated property: IAO_0000115
annotated target: A pervasive developmental disorder that is a rare condition characterized by late onset (greater than 3 years of age) of developmental delays in language, social function, and motor skills where children who have had previously normal development who then appear to regress.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Heller%27s_syndrome
has db xref: url:http://www.patient.co.uk/doctor/Heller%27s-Syndrome.htm

jejunal cancer
type: Class
subclass of: small intestine cancer
has db xref: ICD10CM:C17.1
has db xref: ICD9CM:152.1
has db xref: MESH:D007580
has db xref: NCI:C170919
has db xref: SNOMEDCT_US_2023_03_01:93846004
has db xref: UMLS_CUI:C0153427
has exact synonym: malignant neoplasm of jejunum
has exact synonym: malignant tumor of jejunum
has OBO namespace: disease_ontology
id: DOID:13499
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim

benign vaginal carcinosarcoma
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A vaginal benign neoplasm that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components.
has db xref: NCI:C40275
has db xref: UMLS_CUI:C1511106
has OBO namespace: disease_ontology
id: DOID:135
in subset: NCIthesaurus

Axiom
annotated source: benign vaginal carcinosarcoma
annotated property: IAO_0000115
annotated target: A vaginal benign neoplasm that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components.
type: ECO_0007637
has db xref: url:https://www.glowm.com/section-view/heading/Benign%20Neoplasms%20of%20the%20Vagina/item/5

paranasal sinus benign neoplasm
type: Class
subclass of: organ system benign neoplasm
has db xref: MESH:D010255
has db xref: NCI:C7488
has db xref: SNOMEDCT_US_2023_03_01:126675008
has db xref: UMLS_CUI:C0030470
has exact synonym: neoplasm of accessory sinus
has exact synonym: tumor of Accessory sinus
has OBO namespace: disease_ontology
id: DOID:1350
in subset: NCIthesaurus

hairy tongue
type: Class
subclass of: tongue disease
has db xref: MESH:D014064
has db xref: NCI:C35075
has db xref: SNOMEDCT_US_2023_03_01:81934005
has db xref: UMLS_CUI:C0040414
has exact synonym: Overgrowth of filiform papillae
has OBO namespace: disease_ontology
id: DOID:13500
in subset: NCIthesaurus

Moebius syndrome
type: Class
subclass of: facial nerve disease
IAO_0000115: A facial nerve disease characterized by congenital, uni- or bilateral, non-progressive facial weakness and limited abduction of the eye(s).
has db xref: GARD:8549
has db xref: ICD10CM:Q87.0
has db xref: MESH:D020331
has db xref: MIM:157900
has db xref: NCI:C84893
has db xref: SNOMEDCT_US_2023_03_01:89444000
has db xref: UMLS_CUI:C0221060
has exact synonym: Mobius syndrome
has exact synonym: Moebius congenital oculofacial paralysis
has exact synonym: Oromandibular-limb hypogenesis spectrum
has OBO namespace: disease_ontology
id: DOID:13501
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Moebius syndrome
annotated property: IAO_0000115
annotated target: A facial nerve disease characterized by congenital, uni- or bilateral, non-progressive facial weakness and limited abduction of the eye(s).
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/33474647/
has db xref: url:https://www.ncbi.nlm.nih.gov/articles/PMC4082742/

trigonitis
type: Class
subclass of: cystitis
has db xref: ICD10CM:N30.3
has db xref: ICD9CM:595.3
has db xref: NCI:C123175
has db xref: SNOMEDCT_US_2023_03_01:155885003
has db xref: UMLS_CUI:C1261278
has OBO namespace: disease_ontology
id: DOID:13507
in subset: NCIthesaurus

tuberous sclerosis
type: Class
subclass of: syndrome
IAO_0000115: A hamartoma syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body.
has db xref: GARD:7830
has db xref: ICD10CM:Q85.1
has db xref: ICD9CM:759.5
has db xref: MESH:D014402
has db xref: MIM:PS191100
has db xref: NCI:C3424
has db xref: SNOMEDCT_US_2023_03_01:157033002
has db xref: UMLS_CUI:C0041341
has exact synonym: Bourneville's disease
has exact synonym: Epiloia
has exact synonym: Tuberose sclerosis
has exact synonym: Tuberous sclerosis complex
has exact synonym: Tuberous sclerosis syndrome
has exact synonym: cerebral sclerosis
has OBO namespace: disease_ontology
id: DOID:13515
in subset: DO FlyBase slim
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: tuberous sclerosis
annotated property: IAO_0000115
annotated target: A hamartoma syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body.
type: ECO_0007637
has db xref: url:https://ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex#synonyms

paranasal sinus disease
type: Class
subclass of: disease
has db xref: MESH:D010254
has db xref: NCI:C26843
has db xref: SNOMEDCT_US_2023_03_01:7393007
has db xref: UMLS_CUI:C0030469
has exact synonym: disorder of nasal sinus
has OBO namespace: disease_ontology
id: DOID:1352
in subset: NCIthesaurus

tetanus neonatorum
type: Class
subclass of: tetanus
IAO_0000115: A tetanus that occurs in newborn babies when the birth cord stump gets dirty through cutting it with an unclean blade or applying substances containing bacteria to it. The infection has symptom stiff body, has symptom muscle spasms, has symptom difficulty in breathing, and has symptom exhaustion.
has db xref: ICD10CM:A33
has db xref: ICD9CM:771.3
has db xref: NCI:C116814
has db xref: SNOMEDCT_US_2023_03_01:43424001
has db xref: UMLS_CUI:C0343312
has exact synonym: neonatal tetanus
has OBO namespace: disease_ontology
id: DOID:13521
in subset: DO infectious disease slim
in subset: NCIthesaurus
in subset: gram-positive bacterial infectious disease

Axiom
annotated source: tetanus neonatorum
annotated property: IAO_0000115
annotated target: A tetanus that occurs in newborn babies when the birth cord stump gets dirty through cutting it with an unclean blade or applying substances containing bacteria to it. The infection has symptom stiff body, has symptom muscle spasms, has symptom difficulty in breathing, and has symptom exhaustion.
has db xref: url:https://en.wikipedia.org/wiki/Neonatal_tetanus

loiasis
type: Class
subclass of: filariasis
IAO_0000115: A filariasis that involves parasitic infection of the skin and eyes caused by the nematode Loa loa, which is transmitted through the bite of a deer fly or mango fly. The disease is characterized by episodic angioedema in the arms and legs, and cyst-like enlargements of the connective tissue around the sheaths of muscle tendons. Dead worms may cause chronic abscesses, which may lead to the formation of granulomatous reactions and fibrosis.
has db xref: GARD:3283
has db xref: ICD10CM:B74.3
has db xref: ICD9CM:125.2
has db xref: MESH:D008118
has db xref: NCI:C34784
has db xref: SNOMEDCT_US_2023_03_01:44250009
has db xref: UMLS_CUI:C0023968
has OBO namespace: disease_ontology
id: DOID:13523
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: loiasis
annotated property: IAO_0000115
annotated target: A filariasis that involves parasitic infection of the skin and eyes caused by the nematode Loa loa, which is transmitted through the bite of a deer fly or mango fly. The disease is characterized by episodic angioedema in the arms and legs, and cyst-like enlargements of the connective tissue around the sheaths of muscle tendons. Dead worms may cause chronic abscesses, which may lead to the formation of granulomatous reactions and fibrosis.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Loiasis

osteopetrosis
type: Class
subclass of: osteosclerosis
IAO_0000115: An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones.
has db xref: GARD:4155
has db xref: ICD10CM:Q78.2
has db xref: ICD9CM:756.52
has db xref: MESH:D010022
has db xref: MIM:PS259700
has db xref: MIM:PS607634
has db xref: NCI:C26840
has db xref: ORDO:667
has db xref: SNOMEDCT_US_2023_03_01:205500005
has db xref: UMLS_CUI:C0029454
has exact synonym: Albers-Schonberg disease
has exact synonym: marble bone
has OBO namespace: disease_ontology
id: DOID:13533
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS].

Axiom
annotated source: osteopetrosis
annotated property: IAO_0000115
annotated target: An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Osteopetrosis

cornea squamous cell carcinoma
type: Class
subclass of: DOID 6199
has db xref: NCI:C4552
has db xref: SNOMEDCT_US_2023_03_01:255008003
has db xref: UMLS_CUI:C0346366
has exact synonym: Corneal Epidermoid carcinoma
has OBO namespace: disease_ontology
id: DOID:13538
in subset: NCIthesaurus

hyperparathyroidism
type: Class
subclass of: parathyroid gland disease
IAO_0000115: A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body.
has db xref: ICD10CM:E21.3
has db xref: ICD9CM:252.0
has db xref: MESH:D006961
has db xref: MIM:145000
has db xref: MIM:145001
has db xref: MIM:610071
has db xref: NCI:C48259
has db xref: ORDO:99879
has db xref: SNOMEDCT_US_2023_03_01:190451000
has db xref: UMLS_CUI:C0020502
has OBO namespace: disease_ontology
id: DOID:13543
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: hyperparathyroidism
annotated property: IAO_0000115
annotated target: A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Hyperparathyroidism
has db xref: url:http://ghr.nlm.nih.gov/glossary=hyperparathyroidism

secondary Parkinson disease
type: Class
subclass of: neurodegenerative disease
has db xref: ICD10CM:G21
has db xref: ICD9CM:332.1
has db xref: MESH:D010302
has db xref: NCI:C34899
has db xref: SNOMEDCT_US_2023_03_01:230292008
has db xref: UMLS_CUI:C0030569
has exact synonym: Symptomatic parkinsonism
has exact synonym: disorder presenting primarily with parkinsonism
has exact synonym: secondary parkinsonism
has OBO namespace: disease_ontology
id: DOID:13548
in subset: NCIthesaurus

paranasal sinus lymphoma
type: Class
subclass of: paranasal sinus cancer
has db xref: NCI:C6068
has db xref: UMLS_CUI:C1335339
has exact synonym: Lymphoma of Accessory sinus
has exact synonym: lymphoma of paranasal sinus
has OBO namespace: disease_ontology
id: DOID:1355
in subset: NCIthesaurus

angle-closure glaucoma
type: Class
subclass of: glaucoma
IAO_0000115: A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis.
has db xref: MESH:D015812
has db xref: NCI:C34639
has db xref: SNOMEDCT_US_2023_03_01:270882001
has db xref: UMLS_CUI:C0017605
has exact synonym: ACG - Angle-closure glaucoma
has exact synonym: Angle Closure Glaucoma
has exact synonym: Closed angle glaucoma
has exact synonym: Narrow cleft glaucoma
has exact synonym: primary open-angle glaucoma with narrow angles
has OBO namespace: disease_ontology
id: DOID:13550
in subset: NCIthesaurus

Axiom
annotated source: angle-closure glaucoma
annotated property: IAO_0000115
annotated target: A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis.
has db xref: url:https://en.wikipedia.org/wiki/Glaucoma
has db xref: url:https://eyewiki.aao.org/Primary_vs._Secondary_Angle_Closure_Glaucoma

aspergillosis
type: Class
subclass of: fungal infectious disease
IAO_0000115: An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system.
has db xref: GARD:5856
has db xref: ICD10CM:B44
has db xref: ICD9CM:117.3
has db xref: MESH:D001228
has db xref: NCI:C2886
has db xref: SNOMEDCT_US_2023_03_01:266218008
has db xref: UMLS_CUI:C0004030
has exact synonym: Infection due to Aspergillus
has OBO namespace: disease_ontology
id: DOID:13564
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: aspergillosis
annotated property: IAO_0000115
annotated target: An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system.
type: ECO_0007637
has db xref: url:http://www.mayoclinic.com/print/aspergillosis/DS00950/METHOD=print&DSECTION=all

maxillary sinus cancer
type: Class
subclass of: paranasal sinus cancer
has alternative id: DOID:2372
has db xref: ICD10CM:C31.0
has db xref: ICD9CM:160.2
has db xref: NCI:C3540
has db xref: NCI:C9332
has db xref: SNOMEDCT_US_2023_03_01:93889000
has db xref: UMLS_CUI:C0153476
has db xref: UMLS_CUI:C0740487
has exact synonym: malignant neoplasm of antrum
has exact synonym: malignant tumor of the maxillary sinus
has OBO namespace: disease_ontology
id: DOID:1357
in subset: NCIthesaurus

twin-to-twin transfusion syndrome
type: Class
subclass of: anemia
IAO_0000115: A neonatal anemia that is characterized by an increased number of arteriovenous anastomoses deep in the placenta. These capillary connections occur in the cotyledon portion of the placenta. Unidirectional flow can occur in these arteriovenous anastomoses and result in shunting of blood towards one twin and away from the other when the arteriovenous anastomoses are unbalanced.
has db xref: ICD10CM:O43.02
has db xref: MESH:D005330
has db xref: NCI:C113824
has db xref: SNOMEDCT_US_2023_03_01:13404009
has db xref: UMLS_CUI:C2909036
has exact synonym: Fetal blood loss from fetal hemorrhage into co-twin
has exact synonym: Fetal hemorrhage into co-twin
has exact synonym: Twin to twin transfusion
has exact synonym: Twin-to-twin blood transfer
has OBO namespace: disease_ontology
id: DOID:13576
in subset: NCIthesaurus

Axiom
annotated source: twin-to-twin transfusion syndrome
annotated property: IAO_0000115
annotated target: A neonatal anemia that is characterized by an increased number of arteriovenous anastomoses deep in the placenta. These capillary connections occur in the cotyledon portion of the placenta. Unidirectional flow can occur in these arteriovenous anastomoses and result in shunting of blood towards one twin and away from the other when the arteriovenous anastomoses are unbalanced.
has db xref: url:https://www.nationwidechildrens.org/conditions/twin-to-twin-transfusion-syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK563133/

maxillary sinus benign neoplasm
type: Class
subclass of: paranasal sinus benign neoplasm
has db xref: MESH:D008444
has db xref: NCI:C3219
has db xref: SNOMEDCT_US_2023_03_01:126676009
has db xref: UMLS_CUI:C0024958
has exact synonym: neoplasm of maxillary sinus
has exact synonym: tumor of Maxillofacial sinus
has OBO namespace: disease_ontology
id: DOID:1358
in subset: NCIthesaurus

cholestasis
type: Class
subclass of: bile duct disease
IAO_0000115: A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.
has db xref: ICD10CM:K83.1
has db xref: ICD9CM:576.2
has db xref: MESH:D002779
has db xref: NCI:C83006
has db xref: SNOMEDCT_US_2023_03_01:33688009
has db xref: UMLS_CUI:C0008370
has exact synonym: Obstruction of bile duct
has exact synonym: bile occlusion
has OBO namespace: disease_ontology
id: DOID:13580
in subset: NCIthesaurus

Axiom
annotated source: cholestasis
annotated property: IAO_0000115
annotated target: A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.
has db xref: url:https://en.wikipedia.org/wiki/Cholestasis

eclampsia
type: Class
subclass of: pre-eclampsia
IAO_0000115: A pre-eclampsia characterized by the presence of seizures.
has alternative id: DOID:13592
has db xref: GARD:6316
has db xref: ICD10CM:O15
has db xref: MESH:D004461
has db xref: NCI:C87167
has db xref: SNOMEDCT_US_2023_03_01:156111007
has db xref: UMLS_CUI:C0013537
has exact synonym: Eclampsia in puerperium
has exact synonym: Eclampsia, postpartum
has exact synonym: Postpartum eclampsia
has OBO namespace: disease_ontology
id: DOID:13593
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: eclampsia
annotated property: IAO_0000115
annotated target: A pre-eclampsia characterized by the presence of seizures.
type: ECO_0007637
type: ECO_0007645
has db xref: url:http://ghr.nlm.nih.gov/condition/preeclampsia
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/24400024

vaginal carcinosarcoma
type: Class
subclass of: vaginal cancer
IAO_0000115: A vaginal carcinoma that has_material_basis_in connective tissue.
has alternative id: DOID:1904
has alternative id: DOID:6172
has db xref: NCI:C40274
has db xref: NCI:C40276
has db xref: NCI:C40278
has db xref: UMLS_CUI:C1512974
has db xref: UMLS_CUI:C1519918
has db xref: UMLS_CUI:C1519924
has exact synonym: malignant vaginal mixed epithelial and mesenchymal tumor
has exact synonym: vaginal malignant mixed Mullerian tumor
has exact synonym: vaginal malignant mixed mesodermal (mullerian) tumor
has exact synonym: vaginal mixed epithelial and mesenchymal tumor
has OBO namespace: disease_ontology
id: DOID:136
in subset: NCIthesaurus

Axiom
annotated source: vaginal carcinosarcoma
annotated property: IAO_0000115
annotated target: A vaginal carcinoma that has_material_basis_in connective tissue.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/12588439

frontal sinus cancer
type: Class
subclass of: paranasal sinus cancer
has db xref: ICD10CM:C31.2
has db xref: ICD9CM:160.4
has db xref: NCI:C3542
has db xref: SNOMEDCT_US_2023_03_01:93808006
has db xref: UMLS_CUI:C0153478
has exact synonym: malignant neoplasm of frontal sinus
has exact synonym: malignant tumor of frontal sinus
has exact synonym: malignant tumor of the Frontal sinus
has OBO namespace: disease_ontology
id: DOID:1360
in subset: NCIthesaurus

obstructive jaundice
type: Class
subclass of: cholestasis
IAO_0000115: A cholestasis characterized by yellowish pigmentation of the skin and sclera due to high bilirubin levels resulting from biliary tract obstruction.
has db xref: MESH:D041781
has db xref: NCI:C34742
has db xref: SNOMEDCT_US_2023_03_01:59848001
has db xref: UMLS_CUI:C0022354
has exact synonym: Cholestatic Jaundice
has exact synonym: Cholestatic jaundice syndrome
has exact synonym: Obstructive hyperbilirubinemia
has OBO namespace: disease_ontology
id: DOID:13603
in subset: NCIthesaurus

Axiom
annotated source: obstructive jaundice
annotated property: IAO_0000115
annotated target: A cholestasis characterized by yellowish pigmentation of the skin and sclera due to high bilirubin levels resulting from biliary tract obstruction.
has db xref: url:https://en.wikipedia.org/wiki/Jaundice

biliary atresia
type: Class
subclass of: cholestasis
IAO_0000115: A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder.
has db xref: GARD:12010
has db xref: ICD10CM:Q44.2
has db xref: ICD9CM:751.61
has db xref: MESH:D001656
has db xref: MIM:210500
has db xref: NCI:C34421
has db xref: ORDO:30391
has db xref: SNOMEDCT_US_2023_03_01:77480004
has db xref: UMLS_CUI:C0005411
has exact synonym: Atresia of bile duct
has exact synonym: Congenital biliary atresia
has exact synonym: biliary atresia, congenital
has OBO namespace: disease_ontology
id: DOID:13608
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: biliary atresia
annotated property: IAO_0000115
annotated target: A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder.
type: ECO_0007638
type: ECO_0007640
has db xref: url:http://en.wikipedia.org/wiki/Biliary_atresia
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/000215.htm

frontal sinus benign neoplasm
type: Class
subclass of: paranasal sinus benign neoplasm
has db xref: NCI:C4419
has db xref: SNOMEDCT_US_2023_03_01:126678005
has db xref: UMLS_CUI:C0345672
has exact synonym: neoplasm of frontal sinus
has exact synonym: tumor of the Frontal sinus
has OBO namespace: disease_ontology
id: DOID:1361
in subset: NCIthesaurus

extrahepatic cholestasis
type: Class
subclass of: cholestasis
IAO_0000115: A cholestasis resulting from causes located_in bile ducts outside the liver.
has db xref: MESH:D001651
has db xref: NCI:C34420
has db xref: SNOMEDCT_US_2023_03_01:20719006
has db xref: UMLS_CUI:C0005398
has exact synonym: extrahepatic biliary Stasis
has exact synonym: extrahepatic obstructive biliary disease
has OBO namespace: disease_ontology
id: DOID:13619
in subset: NCIthesaurus

Axiom
annotated source: extrahepatic cholestasis
annotated property: IAO_0000115
annotated target: A cholestasis resulting from causes located_in bile ducts outside the liver.
has db xref: url:https://medlineplus.gov/ency/article/000215.htm

paranasal sinus sarcoma
type: Class
subclass of: paranasal sinus cancer
IAO_0000115: A sarcoma and malignant tumor of nasal sinuses that is located_in the paranasal sinus.
has db xref: NCI:C6849
has db xref: UMLS_CUI:C1335342
has exact synonym: sarcoma of Accessory sinus
has OBO namespace: disease_ontology
id: DOID:1362
in subset: NCIthesaurus

Axiom
annotated source: paranasal sinus sarcoma
annotated property: IAO_0000115
annotated target: A sarcoma and malignant tumor of nasal sinuses that is located_in the paranasal sinus.
type: ECO_0007637
has db xref: url:http://www.cancer.gov/cancertopics/pdq/treatment/paranasalsinus/Patient

patent foramen ovale
type: Class
subclass of: atrial heart septal defect
has db xref: ICD10CM:Q21.12
has db xref: MESH:D054092
has db xref: NCI:C34619
has db xref: SNOMEDCT_US_2023_03_01:268316001
has db xref: UMLS_CUI:C0016522
has exact synonym: Atrial septal defect within oval fossa
has exact synonym: Defect, Patent or persistent, ostium secundum
has exact synonym: Ostium secundum type atrial septal defect
has exact synonym: Persistent ostium secundum
has exact synonym: foramen ovale patent
has OBO namespace: disease_ontology
id: DOID:13620
in subset: NCIthesaurus

photokeratitis
type: Class
subclass of: DOID 4677
has db xref: ICD10CM:H16.13
has db xref: ICD9CM:370.24
has db xref: NCI:C118750
has db xref: SNOMEDCT_US_2023_03_01:1714005
has db xref: UMLS_CUI:C0155078
has OBO namespace: disease_ontology
id: DOID:13626
in subset: NCIthesaurus

favism
type: Class
subclass of: glucosephosphate dehydrogenase deficiency
IAO_0000115: A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans.
has db xref: ICD10CM:D55.0
has db xref: MESH:D005236
has db xref: NCI:C34607
has db xref: SNOMEDCT_US_2023_03_01:154801000
has db xref: UMLS_CUI:C0015702
has OBO namespace: disease_ontology
id: DOID:13628
in subset: NCIthesaurus

Axiom
annotated source: favism
annotated property: IAO_0000115
annotated target: A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Glucosephosphate_dehydrogenase_deficiency

ethmoid sinus cancer
type: Class
subclass of: paranasal sinus cancer
has db xref: ICD10CM:C31.1
has db xref: ICD9CM:160.3
has db xref: NCI:C3541
has db xref: SNOMEDCT_US_2023_03_01:363426009
has db xref: UMLS_CUI:C0153477
has exact synonym: malignant neoplasm of ethmoidal sinus
has exact synonym: malignant tumor of ethmoid sinus
has exact synonym: malignant tumor of ethmoidal sinus
has OBO namespace: disease_ontology
id: DOID:1363
in subset: NCIthesaurus

Fanconi anemia
type: Class
subclass of: aplastic anemia
IAO_0000115: A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair.
has db xref: GARD:6425
has db xref: ICD10CM:D61.09
has db xref: MESH:D005199
has db xref: MIM:PS227650
has db xref: NCI:C62505
has db xref: ORDO:84
has db xref: SNOMEDCT_US_2023_03_01:30575002
has db xref: UMLS_CUI:C0015625
has exact synonym: Fanconi anaemia
has exact synonym: Fanconi pancytopenia
has exact synonym: Fanconi panmyelopathy
has exact synonym: Fanconi's anaemia
has exact synonym: Fanconi's anemia
has OBO namespace: disease_ontology
id: DOID:13636
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS].

Axiom
annotated source: Fanconi anemia
annotated property: IAO_0000115
annotated target: A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Fanconi_anemia
has db xref: url:http://ghr.nlm.nih.gov/condition/fanconi-anemia

ethmoidal sinus benign neoplasm
type: Class
subclass of: paranasal sinus benign neoplasm
has db xref: NCI:C4416
has db xref: SNOMEDCT_US_2023_03_01:126677000
has db xref: UMLS_CUI:C0345668
has exact synonym: neoplasm of ethmoidal sinus
has exact synonym: tumor of ethmoidal sinus
has OBO namespace: disease_ontology
id: DOID:1364
in subset: NCIthesaurus

exfoliation syndrome
type: Class
subclass of: glaucoma
IAO_0000115: A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures.
has db xref: EFO:0004235
has db xref: ICD9CM:365.52
has db xref: MESH:D017889
has db xref: MIM:177650
has db xref: NCI:C129025
has db xref: SNOMEDCT_US_2023_03_01:111514006
has db xref: UMLS_CUI:C0206368
has exact synonym: Pseudoexfoliation glaucoma
has exact synonym: Pseudoexfoliation syndrome
has OBO namespace: disease_ontology
id: DOID:13641
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: exfoliation syndrome
annotated property: IAO_0000115
annotated target: A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures.
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157521/

SAPHO syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by synovitis, acne, pustulosis, hyperostosis and osteitis.
has db xref: GARD:7606
has db xref: MESH:D020083
has db xref: NCI:C119049
has db xref: SNOMEDCT_US_2023_03_01:60684003
has db xref: UMLS_CUI:C0263859
has exact synonym: Synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome
has OBO namespace: disease_ontology
id: DOID:13677
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: SAPHO syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by synovitis, acne, pustulosis, hyperostosis and osteitis.
has db xref: url:https://www.ncbi.nlm.nih.gov/articles/PMC8802951/

prostate calculus
type: Class
subclass of: urinary system disease
has db xref: ICD10CM:N42.0
has db xref: ICD9CM:602.0
has db xref: NCI:C26936
has db xref: SNOMEDCT_US_2023_03_01:155934005
has db xref: UMLS_CUI:C0149525
has exact synonym: Prostatic lithiasis
has exact synonym: Prostatic stone
has exact synonym: Stone of prostate
has exact synonym: calculus of prostate
has OBO namespace: disease_ontology
id: DOID:13689
in subset: NCIthesaurus

dermoid cyst of skin
type: Class
subclass of: dermoid cyst
IAO_0000115: A dermoid cyst that is located_in the skin.
has db xref: NCI:C4632
has db xref: SNOMEDCT_US_2023_03_01:154630005
has db xref: UMLS_CUI:C0349502
has exact synonym: skin Dermoid
has OBO namespace: disease_ontology
id: DOID:13691
in subset: NCIthesaurus

Axiom
annotated source: dermoid cyst of skin
annotated property: IAO_0000115
annotated target: A dermoid cyst that is located_in the skin.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/23488469

vaginal squamous papilloma
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A vaginal benign neoplasm that is characterized by the presence of a fibrovascular stalk lined by normal squamous epithelium.
has db xref: NCI:C6374
has db xref: UMLS_CUI:C1336943
has exact synonym: squamous papilloma of vagina
has OBO namespace: disease_ontology
id: DOID:137
in subset: NCIthesaurus

Axiom
annotated source: vaginal squamous papilloma
annotated property: IAO_0000115
annotated target: A vaginal benign neoplasm that is characterized by the presence of a fibrovascular stalk lined by normal squamous epithelium.
type: ECO_0007636
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C6374

premature ejaculation
type: Class
subclass of: disease of mental health
has db xref: ICD10CM:F52.4
has db xref: ICD9CM:302.75
has db xref: MESH:D061686
has db xref: NCI:C94349
has db xref: SNOMEDCT_US_2023_03_01:123302009
has db xref: UMLS_CUI:C0033038
has OBO namespace: disease_ontology
id: DOID:13709
in subset: NCIthesaurus

uterine corpus adenomatoid tumor
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: An uterine benign neoplasm that is characterized by the formation of gland-like structures, arises from the uterine serosa and myometrium, and has_material_basis_in the mesothelium.
has db xref: NCI:C27250
has db xref: UMLS_CUI:C1336902
has exact synonym: uterine corpus adenomatoid tumour
has exact synonym: uterine corpus localised epithelial Mesothelioma
has exact synonym: uterine corpus localized epithelial Mesothelioma
has OBO namespace: disease_ontology
id: DOID:1371
in subset: NCIthesaurus

Axiom
annotated source: uterine corpus adenomatoid tumor
annotated property: IAO_0000115
annotated target: An uterine benign neoplasm that is characterized by the formation of gland-like structures, arises from the uterine serosa and myometrium, and has_material_basis_in the mesothelium.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3917104/

dental fluorosis
type: Class
subclass of: mouth disease
IAO_0000115: A tooth disease characterized by enamel discoloration resulting from excess fluoride ingestion during tooth formation.
has db xref: ICD10CM:K00.3
has db xref: ICD9CM:520.3
has db xref: MESH:D009050
has db xref: NCI:C85059
has db xref: SNOMEDCT_US_2023_03_01:30265004
has db xref: UMLS_CUI:C0026618
has exact synonym: Intrinsic enamel discolouration of fluorosis
has exact synonym: Mottled teeth
has exact synonym: Mottling of enamel
has OBO namespace: disease_ontology
id: DOID:13711
in subset: NCIthesaurus

Axiom
annotated source: dental fluorosis
annotated property: IAO_0000115
annotated target: A tooth disease characterized by enamel discoloration resulting from excess fluoride ingestion during tooth formation.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/21701193/

anodontia
type: Class
subclass of: mouth disease
IAO_0000115: A tooth disease that is characterized by complete absence of permanent teeth.
has db xref: GARD:5818
has db xref: ICD10CM:K00.0
has db xref: ICD9CM:520.0
has db xref: MESH:D000848
has db xref: MIM:206780
has db xref: NCI:C172328
has db xref: SNOMEDCT_US_2023_03_01:234951001
has db xref: UMLS_CUI:C0399352
has exact synonym: Complete absence of teeth
has exact synonym: Developmental absence of tooth
has exact synonym: Total anodontia of permanent and deciduous teeth
has OBO namespace: disease_ontology
id: DOID:13714
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: anodontia
annotated property: IAO_0000115
annotated target: A tooth disease that is characterized by complete absence of permanent teeth.
has db xref: url:https://rarediseases.info.nih.gov/diseases/5818/index

scurvy
type: Class
subclass of: nutrition disease
IAO_0000115: A nutritional deficiency disease that is characterized by vitamin C (ascorbic acid) deficiency and has_symptom fatigue, weakness, anemia, petechiae, corkscrew hair, gingivitis, and poor wound healing.
has db xref: GARD:10406
has db xref: ICD10CM:E54
has db xref: MESH:D012614
has db xref: MIM:240400
has db xref: NCI:C35010
has db xref: SNOMEDCT_US_2023_03_01:267493006
has db xref: UMLS_CUI:C0036474
has OBO namespace: disease_ontology
id: DOID:13724
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: scurvy
annotated property: IAO_0000115
annotated target: A nutritional deficiency disease that is characterized by vitamin C (ascorbic acid) deficiency and has_symptom fatigue, weakness, anemia, petechiae, corkscrew hair, gingivitis, and poor wound healing.
type: ECO_0007645
has db xref: url:https://medlineplus.gov/ency/article/000355.htm
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2567249/

beriberi
type: Class
subclass of: thiamine deficiency disease
IAO_0000115: A thiamine deficiency disease that is characterized by being severe and chronic.
has db xref: GARD:9948
has db xref: ICD10CM:E51.1
has db xref: ICD9CM:265.0
has db xref: MESH:D001602
has db xref: NCI:C34418
has db xref: SNOMEDCT_US_2023_03_01:267491008
has db xref: UMLS_CUI:C0005122
has OBO namespace: disease_ontology
id: DOID:13725
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: beriberi
annotated property: IAO_0000115
annotated target: A thiamine deficiency disease that is characterized by being severe and chronic.
type: ECO_0007637
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Thiamine_deficiency
has db xref: url:https://medlineplus.gov/ency/article/000339.htm
has db xref: url:https://rarediseases.info.nih.gov/diseases/9948/beriberi

endometrial stromal nodule
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: An uterine benign neoplasm that has_material_basis_in cells reminiscent of proliferative phase endometrial stroma.
has db xref: ICDO:8930/0
has db xref: NCI:C4262
has db xref: SNOMEDCT_US_2023_03_01:189810002
has db xref: UMLS_CUI:C0334485
has OBO namespace: disease_ontology
id: DOID:1373
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: endometrial stromal nodule
annotated property: IAO_0000115
annotated target: An uterine benign neoplasm that has_material_basis_in cells reminiscent of proliferative phase endometrial stroma.
type: ECO_0007637
type: ECO_0007645
has db xref: url:http://www.pathologyoutlines.com/topic/uterusstromalnodule.html
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/26221551

neurofibroma of spinal cord
type: Class
subclass of: DOID 962
has db xref: NCI:C5145
has db xref: UMLS_CUI:C1336047
has OBO namespace: disease_ontology
id: DOID:13742
in subset: NCIthesaurus

spinal cord lipoma
type: Class
subclass of: DOID 6293
IAO_0000115: A central nervous system lipoma that is characterized by abnormal fat accumulation in and around the spinal cord.
has db xref: NCI:C4619
has db xref: SNOMEDCT_US_2023_03_01:189017000
has db xref: UMLS_CUI:C0347446
has exact synonym: Lipoma of spinal cord
has OBO namespace: disease_ontology
id: DOID:13743
in subset: NCIthesaurus

Axiom
annotated source: spinal cord lipoma
annotated property: IAO_0000115
annotated target: A central nervous system lipoma that is characterized by abnormal fat accumulation in and around the spinal cord.
type: ECO_0007637
has db xref: url:http://neurosurgery.ucla.edu/spinal-cord-lipomas-lipomyelomeningoceles

excessive tearing
type: Class
subclass of: lacrimal apparatus disease
has db xref: ICD10CM:H04.2
has db xref: ICD9CM:375.2
has db xref: MESH:D007766
has db xref: NCI:C50552
has db xref: SNOMEDCT_US_2023_03_01:49393005
has db xref: UMLS_CUI:C0152227
has exact synonym: Epiphora
has exact synonym: Excessive tear production
has exact synonym: Watering eye
has OBO namespace: disease_ontology
id: DOID:13757
in subset: NCIthesaurus

Pthirus pubis infestation
type: Class
subclass of: DOID 5502
IAO_0000115: A lice infestation that involves parasitic infestation by pubic lice Pthirus pubis, which are found in the pubic hair, less commonly in eyebrows, eyelashes, beard, mustache, armpit, perianal area, groin, trunk and scalp. The symptoms include itching in the pubic and groin area. Intense itching leads to scratching which can cause sores and secondary bacterial infection of the skin.
has db xref: ICD10CM:B85.3
has db xref: ICD9CM:132.2
has db xref: NCI:C35777
has db xref: SNOMEDCT_US_2023_03_01:71011005
has db xref: UMLS_CUI:C0030759
has exact synonym: Infestation by Phthirus pubis
has exact synonym: Pediculosis Pubis
has exact synonym: Pediculus pubis
has exact synonym: Phthiriasis pubis
has exact synonym: Phthirus pubis
has exact synonym: Phthirus/pediculus pubis - pubic lice - crabs
has exact synonym: crabs
has OBO namespace: disease_ontology
id: DOID:13760
in subset: DO infectious disease slim
in subset: NCIthesaurus
in subset: sexually transmitted infectious disease

Axiom
annotated source: Pthirus pubis infestation
annotated property: IAO_0000115
annotated target: A lice infestation that involves parasitic infestation by pubic lice Pthirus pubis, which are found in the pubic hair, less commonly in eyebrows, eyelashes, beard, mustache, armpit, perianal area, groin, trunk and scalp. The symptoms include itching in the pubic and groin area. Intense itching leads to scratching which can cause sores and secondary bacterial infection of the skin.
type: ECO_0007637
has db xref: url:http://www.cdc.gov/lice/pubic/disease.html

Addison's disease
type: Class
subclass of: adrenal cortical hypofunction
IAO_0000115: An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands.
has db xref: GARD:5740
has db xref: ICD10CM:E27.1
has db xref: MESH:D000224
has db xref: MIM:103230
has db xref: MIM:240200
has db xref: NCI:C26689
has db xref: SNOMEDCT_US_2023_03_01:363732003
has db xref: UMLS_CUI:C0001403
has exact synonym: Addison disease
has exact synonym: Addison disease, chronic adrenal insufficiency
has exact synonym: HYPOADRENOCORTICISM, FAMILIAL
has exact synonym: primary adrenocortical insufficiency
has exact synonym: primary hypoadrenalism
has OBO namespace: disease_ontology
id: DOID:13774
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Addison's disease
annotated property: IAO_0000115
annotated target: An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Addison%27s_disease

plantar wart
type: Class
subclass of: DOID 934
IAO_0000115: A viral infectious disease that results_in benign epithelial tumors located_in skin of the sole or toes of the foot, has_material_basis_in human papillomavirus (types 1, 2, 4 or 63), has_symptom lesions that appear on the sole of the foot.
has db xref: ICD10CM:B07.0
has db xref: ICD9CM:078.12
has db xref: NCI:C26913
has db xref: SNOMEDCT_US_2023_03_01:154363006
has db xref: UMLS_CUI:C0042548
has exact synonym: Verruca plantaris
has OBO namespace: disease_ontology
id: DOID:13775
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: plantar wart
annotated property: IAO_0000115
annotated target: A viral infectious disease that results_in benign epithelial tumors located_in skin of the sole or toes of the foot, has_material_basis_in human papillomavirus (types 1, 2, 4 or 63), has_symptom lesions that appear on the sole of the foot.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Plantar_wart

epidermodysplasia verruciformis
type: Class
subclass of: DOID 612
IAO_0000115: A primary immunodeficiency disease that results_in skin squamous cell carcinoma located_in skin, associated with a high risk of carcinoma. It is characterized by abnormal susceptibility to human papillomaviruses of the skin and has_symptom lesions on the body.
has db xref: GARD:6357
has db xref: MESH:D004819
has db xref: MIM:PS226400
has db xref: NCI:C126877
has db xref: ORDO:302
has db xref: SNOMEDCT_US_2023_03_01:19138001
has db xref: UMLS_CUI:C0014522
has OBO namespace: disease_ontology
id: DOID:13777
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: epidermodysplasia verruciformis
annotated property: IAO_0000115
annotated target: A primary immunodeficiency disease that results_in skin squamous cell carcinoma located_in skin, associated with a high risk of carcinoma. It is characterized by abnormal susceptibility to human papillomaviruses of the skin and has_symptom lesions on the body.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Epidermodysplasia_verruciformis

vaginal squamous tumor
type: Class
subclass of: vaginal cancer
IAO_0000115: A vaginal cancer that has_material_basis_in squamous tissue.
has db xref: NCI:C40242
has db xref: UMLS_CUI:C1519931
has OBO namespace: disease_ontology
id: DOID:138
in subset: NCIthesaurus

Axiom
annotated source: vaginal squamous tumor
annotated property: IAO_0000115
annotated target: A vaginal cancer that has_material_basis_in squamous tissue.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/23057430

endometrial cancer
type: Class
subclass of: uterine cancer
IAO_0000115: A uterine cancer that is located_in tissues lining the uterus.
has alternative id: DOID:5654
has db xref: EFO:0004230
has db xref: GARD:11981
has db xref: ICD10CM:C54.1
has db xref: KEGG:05213
has db xref: MESH:D016889
has db xref: MIM:608089
has db xref: NCI:C27815
has db xref: NCI:C3012
has db xref: SNOMEDCT_US_2023_03_01:123844007
has db xref: SNOMEDCT_US_2023_03_01:188192002
has db xref: UMLS_CUI:C0007103
has db xref: UMLS_CUI:C0014170
has exact synonym: endometrial Ca
has exact synonym: endometrial neoplasm
has exact synonym: malignant endometrial neoplasm
has exact synonym: malignant neoplasm of endometrium
has exact synonym: neoplasm of endometrium
has exact synonym: primary malignant neoplasm of endometrium
has exact synonym: tumor of Endometrium
has OBO namespace: disease_ontology
id: DOID:1380
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: endometrial cancer
annotated property: IAO_0000115
annotated target: A uterine cancer that is located_in tissues lining the uterus.
type: ECO_0007637
type: ECO_0007641
has db xref: url:http://www.cancer.gov/dictionary?CdrID=444987

pharyngoconjunctival fever
type: Class
subclass of: DOID 934
IAO_0000115: A viral infectious disease that results in infection located in pharynx or located in conjunctiva, has_material_basis_in Human adenovirus 3 or 7, serotypes of Mastadenovirus blackbeardi, which are transmitted by droplet spread of respiratory secretions or transmitted by fomites. The infection has symptom fever, has symptom lymphadenopathy of the neck, and has symptom headache.
has db xref: ICD9CM:077.2
has db xref: MESH:D000258
has db xref: NCI:C34924
has db xref: SNOMEDCT_US_2023_03_01:70385007
has db xref: UMLS_CUI:C0031351
has exact synonym: Adenoviral pharyngoconjunctivitis
has exact synonym: pharyngo-conjunctival fever
has OBO namespace: disease_ontology
id: DOID:13801
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: pharyngoconjunctival fever
annotated property: IAO_0000115
annotated target: A viral infectious disease that results in infection located in pharynx or located in conjunctiva, has_material_basis_in Human adenovirus 3 or 7, serotypes of Mastadenovirus blackbeardi, which are transmitted by droplet spread of respiratory secretions or transmitted by fomites. The infection has symptom fever, has symptom lymphadenopathy of the neck, and has symptom headache.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Pharyngoconjunctival_fever

familial combined hyperlipidemia
type: Class
subclass of: familial hyperlipidemia
has db xref: ICD10CM:E78.49
has db xref: MESH:D006950
has db xref: MIM:144250
has db xref: NCI:C35637
has db xref: SNOMEDCT_US_2023_03_01:48190005
has db xref: UMLS_CUI:C0020474
has exact synonym: familial multiple lipoprotein-type hyperlipidemia
has exact synonym: hyperbetalipoproteinemia with prebetalipoproteinemia
has exact synonym: mixed hyperlipidaemia
has exact synonym: type IIb hyperlipoproteinemia
has OBO namespace: disease_ontology
id: DOID:13809
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Fox-Fordyce disease
type: Class
subclass of: skin disease
IAO_0000115: A sweat gland disease that is characterized by dilatation of the follicular infundibulum with hyperkeratosis, acanthosis, and spongiosis with perifollicular inflammation leading to hair loss and has_symptom flesh colored papules with hair loss and pruritis, especially of the axilla.
has db xref: GARD:6462
has db xref: ICD10CM:L75.2
has db xref: ICD9CM:705.82
has db xref: MESH:D005588
has db xref: NCI:C84716
has db xref: SNOMEDCT_US_2023_03_01:254682006
has db xref: UMLS_CUI:C0016632
has exact synonym: Fox Fordyce disease
has OBO namespace: disease_ontology
id: DOID:1381
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Fox-Fordyce disease
annotated property: IAO_0000115
annotated target: A sweat gland disease that is characterized by dilatation of the follicular infundibulum with hyperkeratosis, acanthosis, and spongiosis with perifollicular inflammation leading to hair loss and has_symptom flesh colored papules with hair loss and pruritis, especially of the axilla.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/articles/PMC4746034/

familial hypercholesterolemia
type: Class
subclass of: familial hyperlipidemia
IAO_0000115: A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.
has db xref: GARD:10416
has db xref: ICD10CM:E78.01
has db xref: MESH:D006938
has db xref: MIM:143890
has db xref: NCI:C34704
has db xref: ORDO:406
has db xref: SNOMEDCT_US_2023_03_01:190772003
has db xref: UMLS_CUI:C0020445
has exact synonym: Fredrickson type IIa hyperlipoproteinemia
has exact synonym: Fredrickson type IIa lipidaemia
has exact synonym: familial hyperbetalipoproteinaemia
has exact synonym: familial hypercholesteremia
has exact synonym: hyperbetalipoproteinemia
has exact synonym: type II hyperlipidemia
has OBO namespace: disease_ontology
id: DOID:13810
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: familial hypercholesterolemia
annotated property: IAO_0000115
annotated target: A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Familial_hypercholesterolemia

hypoglossal nerve disease
type: Class
subclass of: DOID 5656
IAO_0000115: A glossopharyngeal nerve disease that is located_in the hypoglossal nerve (twelfth cranial nerve).
has db xref: ICD10CM:G52.3
has db xref: ICD9CM:352.5
has db xref: MESH:D020437
has db xref: NCI:C26954
has db xref: SNOMEDCT_US_2023_03_01:24777009
has db xref: UMLS_CUI:C0152181
has exact synonym: disorder of 12th nerve
has exact synonym: disorder of XII nerve
has exact synonym: disorder of hypoglossal [12th] nerve
has exact synonym: disorder of hypoglossal nerve
has OBO namespace: disease_ontology
id: DOID:13814
in subset: NCIthesaurus

Axiom
annotated source: hypoglossal nerve disease
annotated property: IAO_0000115
annotated target: A glossopharyngeal nerve disease that is located_in the hypoglossal nerve (twelfth cranial nerve).
has db xref: url:https://www.merckmanuals.com/home/brain,-spinal-cord,-and-nerve-disorders/cranial-nerve-disorders/hypoglossal-nerve-disorders

lymphogranuloma venereum
type: Class
subclass of: bacterial infectious disease
IAO_0000115: A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. The infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis.
has db xref: GARD:9545
has db xref: ICD10CM:A55
has db xref: ICD9CM:099.1
has db xref: MESH:D008219
has db xref: NCI:C26822
has db xref: SNOMEDCT_US_2023_03_01:266213004
has db xref: UMLS_CUI:C0024286
has exact synonym: Climatic or tropical bubo
has exact synonym: Durand-Nicolas-Favre disease
has exact synonym: Lymphogranuloma inguinale
has exact synonym: Poradenitis inguinale
has exact synonym: Strumous bubo
has OBO namespace: disease_ontology
id: DOID:13819
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus
in subset: gram-negative bacterial infectious disease
in subset: sexually transmitted infectious disease

Axiom
annotated source: lymphogranuloma venereum
annotated property: IAO_0000115
annotated target: A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. The infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Lymphogranuloma_venereum

miliaria
type: Class
subclass of: skin disease
IAO_0000115: A sweat gland disease that is characterized by blocked eccrine sweat glands and ducts.
has db xref: ICD10CM:L74.3
has db xref: MESH:D008883
has db xref: NCI:C34820
has db xref: SNOMEDCT_US_2023_03_01:63951004
has db xref: UMLS_CUI:C0026113
has exact synonym: eccrine miliaria
has exact synonym: heat rash
has exact synonym: sweat rash
has OBO namespace: disease_ontology
id: DOID:1382
in subset: NCIthesaurus

Axiom
annotated source: miliaria
annotated property: IAO_0000115
annotated target: A sweat gland disease that is characterized by blocked eccrine sweat glands and ducts.
type: ECO_0007637
type: ECO_0007645
type: ECO_0007646
has db xref: url:http://www.pathologyoutlines.com/topic/skinnontumormiliaria.html
has db xref: url:https://stanfordmedicine25.stanford.edu/blog/archive/2017/Miliaria.html
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK537176/
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/30725861

tetanic cataract
type: Class
subclass of: lens disease
IAO_0000115: A cataract resulting from hypocalcemia.
has db xref: ICD9CM:366.42
has db xref: NCI:C35068
has db xref: SNOMEDCT_US_2023_03_01:193607003
has db xref: UMLS_CUI:C0039613
has exact synonym: Hypocalcaemic cataract
has OBO namespace: disease_ontology
id: DOID:13822
in subset: NCIthesaurus

Axiom
annotated source: tetanic cataract
annotated property: IAO_0000115
annotated target: A cataract resulting from hypocalcemia.
type: ECO_0007636
has db xref: url:https://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C35068

patent ductus arteriosus
type: Class
subclass of: congenital heart disease
has db xref: GARD:7342
has db xref: ICD10CM:Q25.0
has db xref: ICD9CM:747.0
has db xref: MESH:D004374
has db xref: MIM:607411
has db xref: NCI:C84492
has db xref: SNOMEDCT_US_2023_03_01:156928009
has db xref: UMLS_CUI:C0013274
has exact synonym: Patent ductus Botalli
has OBO namespace: disease_ontology
has related synonym: ductus arteriosus, Patent
id: DOID:13832
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

abetalipoproteinemia
type: Class
subclass of: DOID 655
IAO_0000115: A hypolipoproteinemia that is characterized by an inability to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_material_basis_in an autosomal recessive disorder of lipid metabolism that has_material_basis_in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids and is required in the secretion of BETA-LIPOPROTEINS.
has db xref: GARD:5
has db xref: ICD10CM:E78.6
has db xref: MESH:D000012
has db xref: MIM:200100
has db xref: NCI:C84525
has db xref: SNOMEDCT_US_2023_03_01:83123000
has db xref: UMLS_CUI:C0000744
has exact synonym: familial hypobetalipoproteinemia
has exact synonym: microsomal triglyceride transfer protein deficiency disease
has OBO namespace: disease_ontology
id: DOID:1386
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: abetalipoproteinemia
annotated property: IAO_0000115
annotated target: A hypolipoproteinemia that is characterized by an inability to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_material_basis_in an autosomal recessive disorder of lipid metabolism that has_material_basis_in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids and is required in the secretion of BETA-LIPOPROTEINS.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Abetalipoproteinemia

trochlear nerve disease
type: Class
subclass of: DOID 5656
has db xref: ICD10CM:H49.1
has db xref: ICD9CM:378.53
has db xref: MESH:D020432
has db xref: NCI:C180994
has db xref: SNOMEDCT_US_2023_03_01:246781001
has db xref: SNOMEDCT_US_2023_03_01:67883005
has db xref: UMLS_CUI:C0271375
has db xref: UMLS_CUI:C0423092
has db xref: UMLS_CUI:C0751939
has exact synonym: Superior oblique muscle innervation disorder
has exact synonym: Trochlear nerve disorder
has exact synonym: disorder of trochlear nerve
has OBO namespace: disease_ontology
id: DOID:13864
in subset: NCIthesaurus

hypoactive sexual desire disorder
type: Class
subclass of: disease of mental health
has db xref: ICD10CM:F52.0
has db xref: ICD9CM:302.71
has db xref: MESH:D020018
has db xref: NCI:C94337
has db xref: SNOMEDCT_US_2023_03_01:78889008
has db xref: UMLS_CUI:C0020594
has exact synonym: Lack or loss of sexual desire
has OBO namespace: disease_ontology
id: DOID:13868
in subset: NCIthesaurus

Tangier disease
type: Class
subclass of: DOID 655
IAO_0000115: A hypolipoproteinemia that is characterized by markedly reduced levels of plasma high density lipoproteins resulting in tissue accumulation of cholesterol esters and that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA1 gene on chromosome 9q31.
has db xref: GARD:7731
has db xref: ICD10CM:E78.6
has db xref: MESH:D013631
has db xref: MIM:205400
has db xref: NCI:C85182
has db xref: SNOMEDCT_US_2023_03_01:190783007
has db xref: UMLS_CUI:C0039292
has exact synonym: familial alpha-lipoprotein deficiency
has exact synonym: familial high density lipoprotein deficiency
has OBO namespace: disease_ontology
id: DOID:1388
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: Tangier disease
annotated property: IAO_0000115
annotated target: A hypolipoproteinemia that is characterized by markedly reduced levels of plasma high density lipoproteins resulting in tissue accumulation of cholesterol esters and that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA1 gene on chromosome 9q31.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/10431236/

sick sinus syndrome
type: Class
subclass of: heart disease
has db xref: ICD10CM:I49.5
has db xref: MESH:D012804
has db xref: MIM:163800
has db xref: MIM:608567
has db xref: NCI:C62244
has db xref: ORDO:166282
has db xref: SNOMEDCT_US_2023_03_01:266307005
has db xref: UMLS_CUI:C0037052
has exact synonym: sinus node infection
has OBO namespace: disease_ontology
id: DOID:13884
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

polyneuropathy
type: Class
subclass of: DOID 574
IAO_0000115: A peripheral system disease that is characterized by damage affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, pins-and-needles, and burning pain.
has db xref: ICD10CM:A69.22
has db xref: MESH:D011115
has db xref: NCI:C26951
has db xref: SNOMEDCT_US_2023_03_01:193166009
has db xref: UMLS_CUI:C0152025
has OBO namespace: disease_ontology
id: DOID:1389
in subset: DO FlyBase slim
in subset: NCIthesaurus

Axiom
annotated source: polyneuropathy
annotated property: IAO_0000115
annotated target: A peripheral system disease that is characterized by damage affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, pins-and-needles, and burning pain.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Polyneuropathy
has db xref: url:https://www.virginiamason.org/polyneuropathy

bird fancier's lung
type: Class
subclass of: DOID 841
IAO_0000115: An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen.
has db xref: ICD10CM:J67.2
has db xref: ICD9CM:495.2
has db xref: MESH:D001716
has db xref: NCI:C34425
has db xref: SNOMEDCT_US_2023_03_01:69339004
has db xref: UMLS_CUI:C0005592
has exact synonym: Avian hypersensitivity Pneumonitis
has exact synonym: Bird-fancier's lung
has exact synonym: Bird-fanciers' lung
has exact synonym: bird breeder's lung
has exact synonym: bird fancier lung
has exact synonym: pigeon breeder's lung
has exact synonym: poultry worker's lung
has OBO namespace: disease_ontology
id: DOID:13891
in subset: NCIthesaurus

Axiom
annotated source: bird fancier's lung
annotated property: IAO_0000115
annotated target: An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen.
type: ECO_0007645
has db xref: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1841781/pdf/brmedj02140-0025.pdf

squamous cell papilloma
type: Class
subclass of: papilloma
has db xref: ICDO:8052/0
has db xref: MESH:D010212
has db xref: NCI:C3712
has db xref: SNOMEDCT_US_2023_03_01:63451008
has db xref: UMLS_CUI:C0205874
has exact synonym: Epidermoid papilloma
has OBO namespace: disease_ontology
id: DOID:139
in subset: NCIthesaurus

Norum disease
type: Class
subclass of: DOID 655
has db xref: ICD10CM:E78.6
has db xref: MESH:D007863
has db xref: MIM:245900
has db xref: NCI:C84813
has db xref: SNOMEDCT_US_2023_03_01:238091006
has db xref: UMLS_CUI:C0023195
has exact synonym: LECITHIN CHOLESTEROL ACYLTRANSFERASE DEFICIENCY
has exact synonym: lecithin acyltransferase deficiency
has OBO namespace: disease_ontology
id: DOID:1391
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

achromatopsia
type: Class
subclass of: color blindness
IAO_0000115: A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance.
has db xref: ICD10CM:H53.51
has db xref: ICD9CM:368.54
has db xref: MESH:D003117
has db xref: NCI:C84528
has db xref: ORDO:49382
has db xref: SNOMEDCT_US_2023_03_01:56852002
has db xref: UMLS_CUI:C0152200
has exact synonym: ACHM
has exact synonym: Monochromatism
has OBO namespace: disease_ontology
id: DOID:13911
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: achromatopsia
annotated property: IAO_0000115
annotated target: A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance.
type: ECO_0007636
type: ECO_0007638
type: ECO_0007645
type: ECO_0007646
has db xref: url:http://en.wikipedia.org/wiki/Achromatopsia
has db xref: url:http://www.ncbi.nlm.nih.gov/books/NBK1418/
has db xref: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=49382
has db xref: url:http://www.sciencedirect.com/science/article/pii/S0161642009010008

Axiom
annotated source: achromatopsia
annotated property: hasExactSynonym
annotated target: ACHM
has synonym type: OMO_0003012

acquired color blindness
type: Class
subclass of: color blindness
has db xref: ICD10CM:H53.52
has db xref: ICD9CM:368.55
has db xref: MESH:D003117
has db xref: NCI:C118712
has db xref: SNOMEDCT_US_2023_03_01:71676008
has db xref: UMLS_CUI:C0155018
has exact synonym: acquired color vision deficiencies
has exact synonym: acquired color vision deficiency
has exact synonym: acquired colour blindness
has exact synonym: acquired colour vision deficiencies
has exact synonym: acquired colour vision deficiency
has OBO namespace: disease_ontology
id: DOID:13912
in subset: NCIthesaurus

bacterial esophagitis
type: Class
subclass of: esophagitis
has db xref: NCI:C27106
has db xref: SNOMEDCT_US_2023_03_01:235601001
has db xref: UMLS_CUI:C0341108
has OBO namespace: disease_ontology
id: DOID:13921
in subset: DO infectious disease slim
in subset: NCIthesaurus

eosinophilic esophagitis
type: Class
subclass of: esophagitis
IAO_0000115: An esophagitis characterized by inflammation involving eosinophils located_in esophagus.
has db xref: EFO:0004232
has db xref: ICD10CM:K20.0
has db xref: ICD9CM:530.13
has db xref: MESH:D057765
has db xref: MIM:610247
has db xref: MIM:613412
has db xref: NCI:C27105
has db xref: ORDO:73247
has db xref: SNOMEDCT_US_2023_03_01:235599003
has db xref: UMLS_CUI:C0341106
has OBO namespace: disease_ontology
id: DOID:13922
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: eosinophilic esophagitis
annotated property: IAO_0000115
annotated target: An esophagitis characterized by inflammation involving eosinophils located_in esophagus.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Eosinophilic_esophagitis

necrotizing ulcerative gingivitis
type: Class
subclass of: gingivitis
has alternative id: DOID:2274
has db xref: GARD:5736
has db xref: ICD10CM:A69.1
has db xref: ICD9CM:101
has db xref: MESH:D005892
has db xref: NCI:C34637
has db xref: SNOMEDCT_US_2023_03_01:171847006
has db xref: SNOMEDCT_US_2023_03_01:707792000
has db xref: UMLS_CUI:C0017575
has db xref: UMLS_CUI:C1527368
has exact synonym: ANUG
has exact synonym: Angina - Vincents
has exact synonym: Vincent angina
has exact synonym: Vincent's angina
has exact synonym: Vincent's angina - pharyngitis
has exact synonym: Vincent's disease
has exact synonym: Vincent's infection, any site
has exact synonym: acute necrotising ulcerative gingivitis
has exact synonym: acute necrotising ulcerative gingivostomatitis
has exact synonym: acute necrotizing ulcerative gingivitis
has exact synonym: acute necrotizing ulcerative gingivostomatitis
has exact synonym: acute ulceromembranous gingivitis
has exact synonym: early acute necrotising gingivitis
has exact synonym: trench mouth
has OBO namespace: disease_ontology
id: DOID:13924
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: necrotizing ulcerative gingivitis
annotated property: hasExactSynonym
annotated target: ANUG
has synonym type: OMO_0003012

lacrimal duct obstruction
type: Class
subclass of: lacrimal apparatus disease
has db xref: MESH:D007767
has db xref: NCI:C34757
has db xref: SNOMEDCT_US_2023_03_01:95769009
has db xref: UMLS_CUI:C0022906
has exact synonym: Blocked lacrimal canaliculus
has exact synonym: Obstruction of lacrimal canaliculus
has exact synonym: Obstruction of lacrimal ducts
has OBO namespace: disease_ontology
id: DOID:13929
in subset: NCIthesaurus

visual pathway disease
type: Class
subclass of: DOID 5614
IAO_0000115: An eye disease that affects the neural pathway from the optic nerve to the visual cortex, through which light is interpreted as an image.
has db xref: ICD10CM:H47.9
has db xref: NCI:C35342
has db xref: SNOMEDCT_US_2023_03_01:54767005
has db xref: UMLS_CUI:C0155287
has OBO namespace: disease_ontology
id: DOID:1393
in subset: NCIthesaurus

Axiom
annotated source: visual pathway disease
annotated property: IAO_0000115
annotated target: An eye disease that affects the neural pathway from the optic nerve to the visual cortex, through which light is interpreted as an image.
type: ECO_0007636
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C35342

facial paralysis
type: Class
subclass of: facial nerve disease
has db xref: ICD10CM:G51.0
has db xref: MESH:D005158
has db xref: NCI:C26769
has db xref: SNOMEDCT_US_2023_03_01:90039006
has db xref: UMLS_CUI:C0015469
has exact synonym: Facial Palsy
has OBO namespace: disease_ontology
id: DOID:13934
in subset: NCIthesaurus

amenorrhea
type: Class
subclass of: reproductive system disease
IAO_0000115: A female reproductive system disease that is characterized by the absence of menstruation.
has db xref: ICD10CM:N91.2
has db xref: ICD9CM:626.0
has db xref: MESH:D000568
has db xref: NCI:C61443
has db xref: SNOMEDCT_US_2023_03_01:156034000
has db xref: UMLS_CUI:C0002453
has exact synonym: absence of menstruation
has exact synonym: amenia
has OBO namespace: disease_ontology
id: DOID:13938
in subset: NCIthesaurus

Axiom
annotated source: amenorrhea
annotated property: IAO_0000115
annotated target: A female reproductive system disease that is characterized by the absence of menstruation.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/23939500

urinary schistosomiasis
type: Class
subclass of: DOID 883
IAO_0000115: A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer.
has db xref: ICD9CM:120.0
has db xref: MESH:D012553
has db xref: NCI:C39294
has db xref: SNOMEDCT_US_2023_03_01:60979006
has db xref: UMLS_CUI:C0276926
has exact synonym: Schistosoma Hematobium Infection
has exact synonym: Schistosoma haematobium
has exact synonym: Schistosoma hematobium infectious disease
has exact synonym: Schistosomiasis due to schistosoma haematobium
has exact synonym: Schistosomiasis of bladder
has exact synonym: Vesical schistosomiasis
has exact synonym: bladder Schistosomiasis
has exact synonym: cystitis with bilharziasis
has OBO namespace: disease_ontology
has related synonym: Schistosoma haematobium infection
id: DOID:1394
in subset: DO infectious disease slim
in subset: NCIthesaurus
in subset: zoonotic infectious disease

Axiom
annotated source: urinary schistosomiasis
annotated property: IAO_0000115
annotated target: A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Schistosoma_haematobium
has db xref: url:http://www.dpd.cdc.gov/dpdx/HTML/Schistosomiasis.htm

CADASIL
type: Class
subclass of: leukodystrophy
IAO_0000115: A leukodystrophy characterized by recurrent subcortical ischemic stroke and cognitive impairment.
has db xref: GARD:1049
has db xref: ICD10CM:I67.850
has db xref: MESH:D046589
has db xref: MIM:PS125310
has db xref: NCI:C84606
has db xref: ORDO:136
has db xref: SNOMEDCT_US_2023_03_01:390723008
has db xref: UMLS_CUI:C0751587
has exact synonym: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
has exact synonym: hereditary multi-infarct dementia
has OBO namespace: disease_ontology
id: DOID:13945
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: CADASIL
annotated property: IAO_0000115
annotated target: A leukodystrophy characterized by recurrent subcortical ischemic stroke and cognitive impairment.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/10476042
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/8878478

bladder neck obstruction
type: Class
subclass of: bladder disease
has db xref: ICD10CM:N32.0
has db xref: ICD9CM:596.0
has db xref: MESH:D001748
has db xref: NCI:C79541
has db xref: SNOMEDCT_US_2023_03_01:197859007
has db xref: UMLS_CUI:C0005694
has exact synonym: Obstruction of bladder neck or vesicourethral orifice
has OBO namespace: disease_ontology
id: DOID:13948
in subset: NCIthesaurus

interstitial cystitis
type: Class
subclass of: cystitis
has db xref: GARD:6787
has db xref: MESH:D018856
has db xref: NCI:C27189
has db xref: SNOMEDCT_US_2023_03_01:197834003
has db xref: UMLS_CUI:C0282488
has exact synonym: ulcerative cystitis
has OBO namespace: disease_ontology
id: DOID:13949
in subset: DO rare slim
in subset: NCIthesaurus

uterine corpus epithelioid leiomyoma
type: Class
subclass of: uterine fibroid
IAO_0000115: An uterine fibroid that is characterized by the presence of round epithelioid, rhabdoid and large vacuolated cells intermingled with spindled cells and clear or eosinophilic cytoplasm as well as the absence of prominent nuclear atypia, tumor cell necrosis and mitotic figures.
has db xref: NCI:C40164
has db xref: UMLS_CUI:C1519850
has OBO namespace: disease_ontology
id: DOID:13951
in subset: NCIthesaurus

Axiom
annotated source: uterine corpus epithelioid leiomyoma
annotated property: IAO_0000115
annotated target: An uterine fibroid that is characterized by the presence of round epithelioid, rhabdoid and large vacuolated cells intermingled with spindled cells and clear or eosinophilic cytoplasm as well as the absence of prominent nuclear atypia, tumor cell necrosis and mitotic figures.
type: ECO_0007637
has db xref: url:http://www.pathologyoutlines.com/topic/uterusleiomyomavariants.html#epithelioid

uterine corpus dissecting leiomyoma
type: Class
subclass of: uterine fibroid
IAO_0000115: A uterine fibroid that is characterized by the presence of intramural tearing.
has db xref: NCI:C40172
has db xref: UMLS_CUI:C1519847
has OBO namespace: disease_ontology
id: DOID:13953
in subset: NCIthesaurus

Axiom
annotated source: uterine corpus dissecting leiomyoma
annotated property: IAO_0000115
annotated target: A uterine fibroid that is characterized by the presence of intramural tearing.
type: ECO_0007645
has db xref: url:http://www.turkjpath.org/text.php3?doi=10.5146/tjpath.2011.01085
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/23370645

uterine corpus myxoid leiomyoma
type: Class
subclass of: uterine fibroid
IAO_0000115: An uterine fibroid that is characterized by islands of smooth muscle in myxoid connective tissue that contain large vessels, but do no infiltrative and the absence of atypia or mitotic activity.
has db xref: NCI:C40166
has db xref: UMLS_CUI:C1519860
has OBO namespace: disease_ontology
id: DOID:13956
in subset: NCIthesaurus

Axiom
annotated source: uterine corpus myxoid leiomyoma
annotated property: IAO_0000115
annotated target: An uterine fibroid that is characterized by islands of smooth muscle in myxoid connective tissue that contain large vessels, but do no infiltrative and the absence of atypia or mitotic activity.
type: ECO_0007637
has db xref: url:http://www.pathologyoutlines.com/topic/uterusleiomyomamyxoid.html

uterine corpus lipoleiomyoma
type: Class
subclass of: uterine fibroid
IAO_0000115: An uterine fibroid that is characterized by the presence of adipocytes.
has db xref: NCI:C40168
has db xref: UMLS_CUI:C1519856
has OBO namespace: disease_ontology
id: DOID:13957
in subset: NCIthesaurus

Axiom
annotated source: uterine corpus lipoleiomyoma
annotated property: IAO_0000115
annotated target: An uterine fibroid that is characterized by the presence of adipocytes.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4299967/

uterine corpus bizarre leiomyoma
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: An uterine benign neoplasm that is characterized by large, atypical nuclei in otherwise normal appearing leiomyoma and rare or absent mitotic figures and has_material_basis_in smooth muscle cells.
has db xref: NCI:C40167
has db xref: UMLS_CUI:C1519853
has exact synonym: uterine Corpus Symplastic leiomyoma
has OBO namespace: disease_ontology
id: DOID:13958
in subset: NCIthesaurus

Axiom
annotated source: uterine corpus bizarre leiomyoma
annotated property: IAO_0000115
annotated target: An uterine benign neoplasm that is characterized by large, atypical nuclei in otherwise normal appearing leiomyoma and rare or absent mitotic figures and has_material_basis_in smooth muscle cells.
type: ECO_0007637
has db xref: url:http://www.pathologyoutlines.com/topic/softtissuebizarreleiomyoma.html

parasitic infectious disease
type: Class
subclass of: disease
IAO_0000115: A disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host.
has alternative id: DOID:11681
has alternative id: DOID:13509
has alternative id: DOID:1396
has alternative id: DOID:1494
has alternative id: DOID:2114
has alternative id: DOID:2293
has alternative id: DOID:2922
has alternative id: DOID:3564
has alternative id: DOID:4191
has alternative id: DOID:886
has alternative id: DOID:948
has alternative id: DOID:9639
has alternative id: DOID:9644
has db xref: ICD10CM:H44.12
has db xref: ICD9CM:360.13
has db xref: NCI:C34587
has db xref: SNOMEDCT_US_2023_03_01:57100005
has db xref: UMLS_CUI:C0014238
has exact synonym: Ectoparasitic disease
has exact synonym: parasitemia
has OBO namespace: disease_ontology
id: DOID:1398
in subset: DO AGR slim
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: parasitic infectious disease
annotated property: IAO_0000115
annotated target: A disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host.
type: ECO_0007646
has db xref: url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4071

cleidocranial dysplasia
type: Class
subclass of: osteochondrodysplasia
IAO_0000115: An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull.
has db xref: GARD:6118
has db xref: ICD10CM:Q74.0
has db xref: MESH:D002973
has db xref: MIM:119600
has db xref: MIM:216330
has db xref: NCI:C75020
has db xref: ORDO:1452
has db xref: SNOMEDCT_US_2023_03_01:65976001
has db xref: UMLS_CUI:C0008928
has exact synonym: Marie-Sainton Disease
has exact synonym: cleidocranial dysostosis
has OBO namespace: disease_ontology
id: DOID:13994
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: cleidocranial dysplasia
annotated property: IAO_0000115
annotated target: An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007640
has db xref: url:http://en.wikipedia.org/wiki/Cleidocranial_dysostosis
has db xref: url:http://ghr.nlm.nih.gov/condition/cleidocranial-dysplasia
has db xref: url:http://www.healthline.com/galecontent/cleidocranial-dysplasia-1
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/001589.htm
has db xref: url:https://www.faces-cranio.org/cleidocranial

small intestine lymphoma
type: Class
subclass of: small intestine cancer
has db xref: NCI:C4007
has db xref: SNOMEDCT_US_2023_03_01:449074003
has db xref: UMLS_CUI:C0278805
has exact synonym: small intestinal Lymphoma
has OBO namespace: disease_ontology
id: DOID:13996
in subset: NCIthesaurus

lacrimal apparatus disease
type: Class
subclass of: DOID 5614
IAO_0000115: An eye disease that affects the lacrimal apparatus (the lacrimal gland and its related structures) which moisten and drain the eye.
has db xref: ICD10CM:H04
has db xref: ICD9CM:375
has db xref: MESH:D007766
has db xref: NCI:C26809
has db xref: SNOMEDCT_US_2023_03_01:267740009
has db xref: UMLS_CUI:C0022904
has OBO namespace: disease_ontology
id: DOID:1400
in subset: NCIthesaurus

Axiom
annotated source: lacrimal apparatus disease
annotated property: IAO_0000115
annotated target: An eye disease that affects the lacrimal apparatus (the lacrimal gland and its related structures) which moisten and drain the eye.
type: ECO_0007636
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C26809

thoracic aortic aneurysm
type: Class
subclass of: aortic aneurysm
IAO_0000115: An aortic aneurysm that is located_in the thoracic aorta.
has db xref: EFO:0004282
has db xref: MESH:D017545
has db xref: MIM:132900
has db xref: MIM:607086
has db xref: MIM:607087
has db xref: MIM:611788
has db xref: MIM:613780
has db xref: MIM:615436
has db xref: NCI:C27001
has db xref: ORDO:91387
has db xref: SNOMEDCT_US_2023_03_01:155421001
has db xref: UMLS_CUI:C0162872
has OBO namespace: disease_ontology
id: DOID:14004
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: thoracic aortic aneurysm
annotated property: IAO_0000115
annotated target: An aortic aneurysm that is located_in the thoracic aorta.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Aortic_aneurysm
has db xref: url:http://en.wikipedia.org/wiki/Thoracic_aortic_aneurysm

alcoholic liver cirrhosis
type: Class
subclass of: DOID 5082
has db xref: ICD10CM:K70.3
has db xref: ICD9CM:571.2
has db xref: MESH:D008104
has db xref: NCI:C34782
has db xref: SNOMEDCT_US_2023_03_01:420054005
has db xref: UMLS_CUI:C0023891
has exact synonym: Alcoholic Cirrhosis
has exact synonym: Alcoholic cirrhosis of liver
has exact synonym: Laennec's cirrhosis
has exact synonym: Laennec's cirrhosis, alcoholic
has exact synonym: Portal cirrhosis
has OBO namespace: disease_ontology
id: DOID:14018
in subset: NCIthesaurus

POEMS syndrome
type: Class
subclass of: DOID 74
IAO_0000115: A blood protein disease that is characterized by polyneuropathy, oranomegaly, endocrinopathy, monoclonal gammopathy, and skin changes, especially hyperpigmentation.
has db xref: GARD:7411
has db xref: MESH:D016878
has db xref: NCI:C80303
has db xref: SNOMEDCT_US_2023_03_01:79268002
has db xref: UMLS_CUI:C0085404
has OBO namespace: disease_ontology
id: DOID:14039
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: POEMS syndrome
annotated property: IAO_0000115
annotated target: A blood protein disease that is characterized by polyneuropathy, oranomegaly, endocrinopathy, monoclonal gammopathy, and skin changes, especially hyperpigmentation.
type: ECO_0007637
has db xref: url:https://rarediseases.info.nih.gov/diseases/7411/poems-syndrome

autoimmune polyendocrine syndrome
type: Class
subclass of: disease
IAO_0000115: An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.
has db xref: ICD10CM:E31.0
has db xref: MESH:D016884
has db xref: NCI:C84576
has db xref: SNOMEDCT_US_2023_03_01:41864002
has db xref: UMLS_CUI:C0085409
has exact synonym: Autoimmune polyglandular failure
has exact synonym: Lloyd's syndrome
has exact synonym: autoimmune polyendocrinopathy
has OBO namespace: disease_ontology
id: DOID:14040
in subset: NCIthesaurus

Axiom
annotated source: autoimmune polyendocrine syndrome
annotated property: IAO_0000115
annotated target: An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Autoimmune_polyendocrine_syndrome
comment: sn:IEDB

iritis
type: Class
subclass of: iris disease
has db xref: MESH:D007500
has db xref: NCI:C50621
has db xref: SNOMEDCT_US_2023_03_01:65074000
has db xref: UMLS_CUI:C0022081
has OBO namespace: disease_ontology
id: DOID:1406
in subset: NCIthesaurus

acute poststreptococcal glomerulonephritis
type: Class
subclass of: glomerulonephritis
has db xref: NCI:C35443
has db xref: SNOMEDCT_US_2023_03_01:68544003
has db xref: UMLS_CUI:C0403414
has exact synonym: Post-Streptococcal Glomerulonephritis
has OBO namespace: disease_ontology
id: DOID:14064
in subset: NCIthesaurus

acute diffuse nephritis
type: Class
subclass of: DOID 4781
has db xref: NCI:C35587
has db xref: SNOMEDCT_US_2023_03_01:197585004
has db xref: UMLS_CUI:C0341689
has exact synonym: acute Diffuse Glomerulonephritis
has OBO namespace: disease_ontology
id: DOID:14066
in subset: NCIthesaurus

Plasmodium falciparum malaria
type: Class
subclass of: malaria
IAO_0000115: A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever.
has db xref: ICD10CM:B50
has db xref: ICD9CM:084.0
has db xref: MESH:D016778
has db xref: NCI:C34798
has db xref: SNOMEDCT_US_2023_03_01:62676009
has db xref: UMLS_CUI:C0024535
has exact synonym: Malaria fever, subtertian
has exact synonym: falciparum malaria
has exact synonym: malignant tertian fever
has OBO namespace: disease_ontology
id: DOID:14067
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: Plasmodium falciparum malaria
annotated property: IAO_0000115
annotated target: A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever.
type: ECO_0007643
has db xref: url:https://www.merriam-webster.com/dictionary/falciparum%20malaria#medicalDictionary

blackwater fever
type: Class
subclass of: malaria
IAO_0000115: 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.
has db xref: ICD9CM:084.8
has db xref: MESH:D001742
has db xref: NCI:C34426
has db xref: SNOMEDCT_US_2023_03_01:56625005
has db xref: UMLS_CUI:C0005681
has exact synonym: Black water fever
has exact synonym: Hemoglobinuric, malaria
has exact synonym: Malarial Hemoglobinuria
has OBO namespace: disease_ontology
id: DOID:14068
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: blackwater fever
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007638
type: ECO_0007643
has db xref: url:http://en.wikipedia.org/wiki/Blackwater_fever
has db xref: url:https://www.merriam-webster.com/dictionary/blackwater%20fever#medicalDictionary

cerebral malaria
type: Class
subclass of: malaria
IAO_0000115: A malaria that involves neurologic damage resulting from blockage of the blood vessels, caused due to the infection of the red blood cells by Plasmodium species.
has db xref: ICD10CM:B50.0
has db xref: MESH:D016779
has db xref: NCI:C128373
has db xref: SNOMEDCT_US_2023_03_01:53622003
has db xref: UMLS_CUI:C0024534
has exact synonym: Malarial encephalitis
has OBO namespace: disease_ontology
id: DOID:14069
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: cerebral malaria
annotated property: IAO_0000115
annotated target: A malaria that involves neurologic damage resulting from blockage of the blood vessels, caused due to the infection of the red blood cells by Plasmodium species.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Malaria

anterior uveitis
type: Class
subclass of: panuveitis
has db xref: GARD:10941
has db xref: MESH:D014606
has db xref: NCI:C35109
has db xref: SNOMEDCT_US_2023_03_01:193500005
has db xref: UMLS_CUI:C0042165
has OBO namespace: disease_ontology
id: DOID:1407
in subset: DO rare slim
in subset: NCIthesaurus

glucocorticoid-remediable aldosteronism
type: Class
subclass of: DOID 446
IAO_0000115: A primary hyperaldosteronism characterized by variably expressed and severe hypertension, hyperaldosteronism and abnormal adrenal steroid production which improve with exogenous glucocorticoid administration that has_material_basis_in a chimeric gene formed of the CYP11B2 and CYP11B1 genes on chromosome 8q24.3.
has db xref: GARD:2790
has db xref: ICD10CM:E26.02
has db xref: ICD9CM:255.11
has db xref: MESH:C563177
has db xref: MIM:103900
has db xref: NCI:C127161
has db xref: SNOMEDCT_US_2023_03_01:703232003
has db xref: UMLS_CUI:C3838731
has exact synonym: GRA
has exact synonym: GRS
has exact synonym: familial hyperaldosteronism type I
has exact synonym: glucocorticoid-suppressible hyperaldosteronism
has OBO namespace: disease_ontology
id: DOID:14080
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: glucocorticoid-remediable aldosteronism
annotated property: IAO_0000115
annotated target: A primary hyperaldosteronism characterized by variably expressed and severe hypertension, hyperaldosteronism and abnormal adrenal steroid production which improve with exogenous glucocorticoid administration that has_material_basis_in a chimeric gene formed of the CYP11B2 and CYP11B1 genes on chromosome 8q24.3.
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/10852446/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/1731223/

Axiom
annotated source: glucocorticoid-remediable aldosteronism
annotated property: hasExactSynonym
annotated target: GRA
has synonym type: OMO_0003012

Axiom
annotated source: glucocorticoid-remediable aldosteronism
annotated property: hasExactSynonym
annotated target: GRS
has synonym type: OMO_0003012

epicondylitis
type: Class
subclass of: DOID 65
IAO_0000115: A bone inflammation disease that results_in inflammation located_in epicondyle.
has alternative id: DOID:14162
has db xref: ICD10CM:M77.1
has db xref: ICD9CM:726.32
has db xref: MESH:D013716
has db xref: NCI:C34589
has db xref: NCI:C35067
has db xref: SNOMEDCT_US_2023_03_01:156659008
has db xref: SNOMEDCT_US_2023_03_01:268088003
has db xref: UMLS_CUI:C0014488
has db xref: UMLS_CUI:C0039516
has exact synonym: Lateral epicondylitis
has exact synonym: andrel epicondylitis
has exact synonym: archer's elbow
has exact synonym: golfer's elbow
has exact synonym: hockey elbow
has exact synonym: medial epicondylitis
has OBO namespace: disease_ontology
has related synonym: shooter's elbow
has related synonym: tennis elbow
id: DOID:14087
in subset: NCIthesaurus

Axiom
annotated source: epicondylitis
annotated property: IAO_0000115
annotated target: A bone inflammation disease that results_in inflammation located_in epicondyle.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Epicondylitis

anus cancer
type: Class
subclass of: DOID 5672
IAO_0000115: A large intestine cancer that is located_in the anus.
has alternative id: DOID:12240
has db xref: GARD:9300
has db xref: ICD10CM:C21.0
has db xref: ICD10CM:C21.1
has db xref: ICD9CM:154.2
has db xref: ICD9CM:154.3
has db xref: NCI:C7379
has db xref: SNOMEDCT_US_2023_03_01:93669004
has db xref: SNOMEDCT_US_2023_03_01:93676009
has db xref: UMLS_CUI:C0153445
has db xref: UMLS_CUI:C0153446
has exact synonym: anal cancer
has exact synonym: malignant anal tumor
has OBO namespace: disease_ontology
id: DOID:14110
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: anus cancer
annotated property: IAO_0000115
annotated target: A large intestine cancer that is located_in the anus.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Anus

toxic shock syndrome
type: Class
subclass of: bacterial infectious disease
IAO_0000115: A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.
has db xref: ICD10CM:A48.3
has db xref: ICD9CM:040.82
has db xref: MESH:D012772
has db xref: NCI:C35498
has db xref: SNOMEDCT_US_2023_03_01:18504008
has db xref: UMLS_CUI:C0600327
has exact synonym: TSS
has exact synonym: toxic shock
has OBO namespace: disease_ontology
id: DOID:14115
in subset: DO infectious disease slim
in subset: NCIthesaurus
in subset: gram-positive bacterial infectious disease

Axiom
annotated source: toxic shock syndrome
annotated property: IAO_0000115
annotated target: A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Toxic_shock_syndrome

Axiom
annotated source: toxic shock syndrome
annotated property: hasExactSynonym
annotated target: TSS
has synonym type: OMO_0003012

multiple symmetric lipomatosis
type: Class
subclass of: skin disease
has alternative id: DOID:3137
has db xref: GARD:6957
has db xref: MESH:D008069
has db xref: MIM:151800
has db xref: NCI:C4392
has db xref: SNOMEDCT_US_2023_03_01:238902007
has db xref: SNOMEDCT_US_2023_03_01:65245004
has db xref: UMLS_CUI:C0023804
has db xref: UMLS_CUI:C0028253
has exact synonym: LIPODYSTROPHY, CEPHALOTHORACIC
has exact synonym: LIPOMATOSIS, FAMILIAL BENIGN CERVICAL
has exact synonym: Launois-Bensaude's lipomatosis
has exact synonym: Madelung's neck
has exact synonym: cervical Symmetrical Lipomatosis
has exact synonym: multiple symmetrical lipomatosis
has OBO namespace: disease_ontology
id: DOID:14116
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

familial lipoprotein lipase deficiency
type: Class
subclass of: familial hyperlipidemia
IAO_0000115: A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides.
has db xref: GARD:12241
has db xref: ICD10CM:E78.3
has db xref: ICD9CM:272.3
has db xref: MESH:D008072
has db xref: MIM:238600
has db xref: NCI:C84771
has db xref: ORDO:309015
has db xref: SNOMEDCT_US_2023_03_01:34171006
has db xref: UMLS_CUI:C0023817
has exact synonym: Fredrickson type I hyperlipoproteinemia
has exact synonym: Fredrickson type I lipaemia
has exact synonym: familial LPL deficiency
has exact synonym: familial hyperlipoproteinemia type I
has exact synonym: hypercholesterinaemic xanthomatosis
has exact synonym: hyperchylomicronemia
has exact synonym: mixed hyperglyceridemia
has OBO namespace: disease_ontology
id: DOID:14118
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: familial lipoprotein lipase deficiency
annotated property: IAO_0000115
annotated target: A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides.
type: ECO_0007636
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/35415234/
has db xref: url:https://rarediseases.org/rare-diseases/familial-lipoprotein-lipase-deficiency/

abducens nerve neoplasm
type: Class
subclass of: cranial nerve malignant neoplasm
has db xref: NCI:C5826
has db xref: SNOMEDCT_US_2023_03_01:126972009
has db xref: UMLS_CUI:C1263898
has exact synonym: VIth Cranial nerve tumors
has exact synonym: neoplasm of abducens nerve
has OBO namespace: disease_ontology
id: DOID:14125
in subset: NCIthesaurus

anus lymphoma
type: Class
subclass of: anus cancer
has db xref: NCI:C5601
has db xref: SNOMEDCT_US_2023_03_01:1153356005
has db xref: UMLS_CUI:C1332268
has exact synonym: Lymphoma of anus
has OBO namespace: disease_ontology
id: DOID:14139
in subset: NCIthesaurus

malignant anus melanoma
type: Class
subclass of: anus cancer
has db xref: NCI:C4639
has db xref: SNOMEDCT_US_2023_03_01:276821000
has db xref: UMLS_CUI:C0349538
has exact synonym: anal melanoma
has exact synonym: malignant melanoma of anus
has OBO namespace: disease_ontology
id: DOID:14145
in subset: DO cancer slim
in subset: NCIthesaurus

ureterolithiasis
type: Class
subclass of: ureteral disease
IAO_0000115: An ureteral disease this is characterized by the formation of stoney concentrations in the ureter.
has db xref: ICD10CM:N20.1
has db xref: ICD9CM:592.1
has db xref: MESH:D053039
has db xref: NCI:C114696
has db xref: SNOMEDCT_US_2023_03_01:31054009
has db xref: UMLS_CUI:C0041952
has exact synonym: Ureteric calculus
has exact synonym: Ureteric stone
has exact synonym: calculus of ureter
has OBO namespace: disease_ontology
id: DOID:14146
in subset: NCIthesaurus

Axiom
annotated source: ureterolithiasis
annotated property: IAO_0000115
annotated target: An ureteral disease this is characterized by the formation of stoney concentrations in the ureter.
has db xref: url:https://www.jucm.com/ureterolithiasis-leaving-stone-unturned/
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/28513524

gyrate atrophy
type: Class
subclass of: choroid disease
has db xref: GARD:6556
has db xref: MESH:D015799
has db xref: MIM:258870
has db xref: NCI:C84744
has db xref: SNOMEDCT_US_2023_03_01:314467007
has db xref: UMLS_CUI:C0018425
has exact synonym: Gyrate atrophy of the choroid and/or retina
has exact synonym: Ornithinemia with gyrate atrophy
has exact synonym: gyrate atrophy of the retina
has OBO namespace: disease_ontology
id: DOID:1415
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping by NeuroDevNet. [LS].

spinal cord lymphoma
type: Class
subclass of: DOID 5612
IAO_0000115: A spinal cancer that is located_in the spinal cord and derives_from lymphocytes.
has db xref: NCI:C5157
has db xref: UMLS_CUI:C1336044
has exact synonym: Lymphoma of the Spinal Cord
has OBO namespace: disease_ontology
has related synonym: spinal cord cancer
id: DOID:14150
in subset: NCIthesaurus

Axiom
annotated source: spinal cord lymphoma
annotated property: IAO_0000115
annotated target: A spinal cancer that is located_in the spinal cord and derives_from lymphocytes.
has db xref: url:http://www.virtualmedicalcentre.com/diseases.asp?did=583

spinal cord melanoma
type: Class
subclass of: DOID 5612
has db xref: NCI:C5158
has db xref: UMLS_CUI:C1336045
has exact synonym: melanoma of the Spinal Cord
has OBO namespace: disease_ontology
id: DOID:14151
in subset: NCIthesaurus

spinal cord sarcoma
type: Class
subclass of: DOID 5612
has db xref: NCI:C5152
has db xref: UMLS_CUI:C1336049
has exact synonym: sarcoma of the Spinal Cord
has OBO namespace: disease_ontology
id: DOID:14152
in subset: NCIthesaurus

obstructive hydrocephalus
type: Class
subclass of: hydrocephalus
has db xref: ICD10CM:G91.1
has db xref: ICD9CM:331.4
has db xref: MESH:D006849
has db xref: NCI:C116347
has db xref: SNOMEDCT_US_2023_03_01:230746009
has db xref: UMLS_CUI:C0549423
has OBO namespace: disease_ontology
id: DOID:14159
in subset: NCIthesaurus

choroid disease
type: Class
subclass of: uveal disease
IAO_0000115: An uveal disease that is located_in the choroid.
has db xref: ICD10CM:H31.9
has db xref: ICD9CM:363.9
has db xref: MESH:D015862
has db xref: NCI:C34468
has db xref: SNOMEDCT_US_2023_03_01:193480005
has db xref: UMLS_CUI:C0008521
has OBO namespace: disease_ontology
id: DOID:1417
in subset: NCIthesaurus

Axiom
annotated source: choroid disease
annotated property: IAO_0000115
annotated target: An uveal disease that is located_in the choroid.
has db xref: url:https://www.vagelos.columbia.edu/departments-centers/ophthalmology/education/digital-reference-ophthalmology/vitreous-and-retina/retina-choroid-disorders

central neurocytoma
type: Class
subclass of: cerebral ventricle cancer
has db xref: ICDO:9506/1
has db xref: MESH:D018306
has db xref: NCI:C3791
has db xref: SNOMEDCT_US_2023_03_01:302832007
has db xref: UMLS_CUI:C0206719
has exact synonym: Neurolipocytoma
has OBO namespace: disease_ontology
id: DOID:14174
in subset: DO cancer slim
in subset: NCIthesaurus

von Hippel-Lindau disease
type: Class
subclass of: DOID 5241
has db xref: GARD:7855
has db xref: ICD10CM:Q85.83
has db xref: MESH:D006623
has db xref: MIM:193300
has db xref: NCI:C3105
has db xref: SNOMEDCT_US_2023_03_01:46659004
has db xref: UMLS_CUI:C0019562
has exact synonym: Hippel Lindau syndrome
has exact synonym: von Hippel-Lindau syndrome
has OBO namespace: disease_ontology
id: DOID:14175
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

selective IgG deficiency disease
type: Class
subclass of: DOID 6025
IAO_0000115: A dysgammaglobulinemia that is characterized by isolated deficiency of an IgG subclass, normal total IgG levels, and subsequent increased susceptibility to recurrent infections, atopic disease, and autoimmune conditions.
has db xref: GARD:10371
has db xref: ICD10CM:D80.3
has db xref: MESH:D017099
has db xref: NCI:C27142
has db xref: SNOMEDCT_US_2023_03_01:190981001
has db xref: UMLS_CUI:C0162539
has exact synonym: Immunoglobin G subclass deficiency
has exact synonym: Selective IgG Immunodeficiency
has exact synonym: Selective Immunoglobulin G Subclass deficiency
has exact synonym: Selective deficiency of IgG
has exact synonym: Selective immunoglobulin G deficiency
has OBO namespace: disease_ontology
id: DOID:14176
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: selective IgG deficiency disease
annotated property: IAO_0000115
annotated target: A dysgammaglobulinemia that is characterized by isolated deficiency of an IgG subclass, normal total IgG levels, and subsequent increased susceptibility to recurrent infections, atopic disease, and autoimmune conditions.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/26846287

X-linked agammaglobulinemia
type: Class
subclass of: agammaglobulinemia
IAO_0000115: An agammaglobulinemia that is that has_material_basis_in 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.
has db xref: MESH:C537409
has db xref: MIM:300755
has db xref: NCI:C3822
has db xref: ORDO:47
has db xref: SNOMEDCT_US_2023_03_01:65880007
has db xref: UMLS_CUI:C0221026
has exact synonym: BTK deficiency
has exact synonym: Bruton agammaglobulinemia tyrosine kinase deficiency
has exact synonym: Bruton disease
has exact synonym: Bruton's Sex-Linked Agammaglobulinemia
has exact synonym: Bruton's agammaglobulinaemia
has exact synonym: Bruton's type agammaglobulinemia
has exact synonym: Bruton-type agammaglobulinemia
has OBO namespace: disease_ontology
id: DOID:14179
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: X-linked agammaglobulinemia
annotated property: IAO_0000115
annotated target: An agammaglobulinemia that is that has_material_basis_in 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.
type: ECO_0007638
type: ECO_0007640
has db xref: url:http://en.wikipedia.org/wiki/X-linked_agammaglobulinemia
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/001307.htm

alcoholic neuropathy
type: Class
subclass of: DOID 870
has db xref: ICD10CM:G62.1
has db xref: ICD9CM:357.5
has db xref: MESH:D020269
has db xref: NCI:C26926
has db xref: SNOMEDCT_US_2023_03_01:7916009
has db xref: UMLS_CUI:C0085677
has exact synonym: Alcohol-related polyneuropathy
has exact synonym: Alcoholic polyneuropathy
has OBO namespace: disease_ontology
id: DOID:14183
in subset: NCIthesaurus

childhood type dermatomyositis
type: Class
subclass of: dermatomyositis
has db xref: ICD10CM:M33.0
has db xref: MESH:D003882
has db xref: NCI:C27576
has db xref: SNOMEDCT_US_2023_03_01:1212005
has db xref: UMLS_CUI:C0263666
has exact synonym: Juvenile dermatomyositis
has exact synonym: childhood Dermatomyositis
has OBO namespace: disease_ontology
id: DOID:14203
in subset: NCIthesaurus

hypophosphatasia
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by disruption of mineralization of bones and teeth that has_material_basis_in mutation in the ALPL gene on chromosome 1p36.12.
has alternative id: DOID:14763
has db xref: GARD:6734
has db xref: ICD10CM:E83.39
has db xref: MESH:C562440
has db xref: MESH:D007014
has db xref: NCI:C26798
has db xref: ORDO:436
has db xref: SNOMEDCT_US_2023_03_01:30174008
has db xref: SNOMEDCT_US_2023_03_01:70848009
has db xref: UMLS_CUI:C0020630
has db xref: UMLS_CUI:C0220743
has exact synonym: deficiency of alkaline phosphatase
has OBO namespace: disease_ontology
id: DOID:14213
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: hypophosphatasia
annotated property: IAO_0000115
annotated target: A syndrome characterized by disruption of mineralization of bones and teeth that has_material_basis_in mutation in the ALPL gene on chromosome 1p36.12.
type: ECO_0007636
has db xref: url:https://ghr.nlm.nih.gov/condition/hypophosphatasia

dihydropyrimidine dehydrogenase deficiency
type: Class
subclass of: DOID 655
IAO_0000115: A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine.
has db xref: GARD:19
has db xref: MESH:D054067
has db xref: MIM:274270
has db xref: NCI:C84672
has db xref: SNOMEDCT_US_2023_03_01:238016000
has db xref: UMLS_CUI:C1959620
has db xref: UMLS_CUI:C3495551
has exact synonym: Dihydrouracil Dehydrogenase deficiency
has exact synonym: familial pyrimidinaemia
has exact synonym: thymine-uracilurea
has OBO namespace: disease_ontology
id: DOID:14218
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: dihydropyrimidine dehydrogenase deficiency
annotated property: IAO_0000115
annotated target: A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Dihydropyrimidine_dehydrogenase_deficiency

renal tubular acidosis
type: Class
subclass of: DOID 557
IAO_0000115: A renal tubular transport disease characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis.
has db xref: GARD:7552
has db xref: ICD10CM:N25.89
has db xref: MESH:D000141
has db xref: MIM:267200
has db xref: NCI:C28129
has db xref: SNOMEDCT_US_2023_03_01:1776003
has db xref: UMLS_CUI:C0001126
has OBO namespace: disease_ontology
id: DOID:14219
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: renal tubular acidosis
annotated property: IAO_0000115
annotated target: A renal tubular transport disease characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Renal_tubular_acidosis
has db xref: url:http://www.merckmanuals.com/professional/genitourinary_disorders/renal_transport_abnormalities/renal_tubular_acidosis_rta.html

abdominal obesity-metabolic syndrome 1
type: Class
subclass of: syndrome
IAO_0000115: An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and an increased risk of cardiovascular events.
has db xref: EFO:0000195
has db xref: GARD:9226
has db xref: ICD10CM:E88.81
has db xref: ICD9CM:277.7
has db xref: MESH:D024821
has db xref: MIM:605552
has db xref: NCI:C84442
has db xref: SNOMEDCT_US_2023_03_01:190394009
has db xref: UMLS_CUI:C0524620
has exact synonym: dysmetabolic syndrome X
has exact synonym: metabolic syndrome X
has OBO namespace: disease_ontology
id: DOID:14221
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: abdominal obesity-metabolic syndrome 1
annotated property: IAO_0000115
annotated target: An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and an increased risk of cardiovascular events.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Metabolic_syndrome

ochronosis
type: Class
subclass of: DOID 65
IAO_0000115: A connective tissue disease characterized by bluish-brown discoloration of connective tissues that develops from the deposition of homogentisic acid and subsequent oxidation and polymerization reactions.
has db xref: GARD:7231
has db xref: ICD10CM:E70.29
has db xref: MESH:D009794
has db xref: NCI:C84938
has db xref: SNOMEDCT_US_2023_03_01:21924005
has db xref: UMLS_CUI:C0028817
has OBO namespace: disease_ontology
id: DOID:14223
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: ochronosis
annotated property: IAO_0000115
annotated target: A connective tissue disease characterized by bluish-brown discoloration of connective tissues that develops from the deposition of homogentisic acid and subsequent oxidation and polymerization reactions.
type: ECO_0007638
type: ECO_0007645
has db xref: url:https://en.wikipedia.org/wiki/Ochronosis
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4681189/

tracheal calcification
type: Class
subclass of: tracheal disease
has db xref: NCI:C35314
has db xref: SNOMEDCT_US_2023_03_01:81089005
has db xref: UMLS_CUI:C0264324
has exact synonym: Calcification of trachea
has OBO namespace: disease_ontology
id: DOID:14224
in subset: NCIthesaurus

azoospermia
type: Class
subclass of: reproductive system disease
IAO_0000115: A male infertility disease characterized by the absence of any measurable level of sperm in semen.
has db xref: EFO:0000279
has db xref: ICD10CM:N46.0
has db xref: ICD9CM:606.0
has db xref: MESH:D053713
has db xref: NCI:C80076
has db xref: ORDO:217034
has db xref: SNOMEDCT_US_2023_03_01:145008007
has db xref: UMLS_CUI:C0004509
has OBO namespace: disease_ontology
id: DOID:14227
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: azoospermia
annotated property: IAO_0000115
annotated target: A male infertility disease characterized by the absence of any measurable level of sperm in semen.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Azoospermia
has db xref: url:http://ghr.nlm.nih.gov/glossary=azoospermia

oligospermia
type: Class
subclass of: reproductive system disease
IAO_0000115: A male fertility issue defined as a low sperm concentration in the ejaculate.
has db xref: ICD10CM:N46.1
has db xref: ICD9CM:606.1
has db xref: MESH:D009845
has db xref: NCI:C34860
has db xref: UMLS_CUI:C0028960
has OBO namespace: disease_ontology
id: DOID:14228
in subset: NCIthesaurus

Axiom
annotated source: oligospermia
annotated property: IAO_0000115
annotated target: A male fertility issue defined as a low sperm concentration in the ejaculate.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Oligospermia

chronic purulent otitis media
type: Class
subclass of: otitis media
IAO_0000115: A suppurative otitis media which is persistent and long-lasting.
has db xref: ICD10CM:H66.3
has db xref: ICD9CM:382.3
has db xref: NCI:C128386
has db xref: SNOMEDCT_US_2023_03_01:38394007
has db xref: UMLS_CUI:C0271454
has exact synonym: chronic suppurative otitis media
has OBO namespace: disease_ontology
id: DOID:14247
in subset: NCIthesaurus

Axiom
annotated source: chronic purulent otitis media
annotated property: IAO_0000115
annotated target: A suppurative otitis media which is persistent and long-lasting.
type: ECO_0007646
has db xref: url:http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA128&lpg#v=onepage&q=&f=false

pyoureter
type: Class
subclass of: ureteral disease
has db xref: NCI:C35666
has db xref: SNOMEDCT_US_2023_03_01:266627003
has db xref: UMLS_CUI:C0034223
has exact synonym: Ureter abscess
has OBO namespace: disease_ontology
id: DOID:1425
in subset: NCIthesaurus

Down syndrome
type: Class
subclass of: DOID 630
IAO_0000115: A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability.
has db xref: GARD:10247
has db xref: ICD10CM:Q90
has db xref: ICD9CM:758.0
has db xref: MESH:D004314
has db xref: MIM:190685
has db xref: NCI:C2993
has db xref: ORDO:870
has db xref: SNOMEDCT_US_2023_03_01:41040004
has db xref: UMLS_CUI:C0013080
has exact synonym: Complete trisomy 21 syndrome
has exact synonym: Down's syndrome
has exact synonym: Down's syndrome - trisomy 21
has exact synonym: Downs syndrome
has exact synonym: G Trisomy
has exact synonym: trisomy 21 syndrome
has OBO namespace: disease_ontology
id: DOID:14250
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Down syndrome
annotated property: IAO_0000115
annotated target: A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Down_syndrome
has db xref: url:http://ghr.nlm.nih.gov/condition/down-syndrome
has db xref: url:http://www.nichd.nih.gov/health/topics/down/Pages/default.aspx
has db xref: url:https://research.nhgri.nih.gov/atlas/condition/trisomy-21

ureteral disease
type: Class
subclass of: urinary system disease
IAO_0000115: A urinary system disease that is located_in the ureter.
has db xref: MESH:D014515
has db xref: NCI:C27148
has db xref: SNOMEDCT_US_2023_03_01:128073008
has db xref: UMLS_CUI:C0403608
has OBO namespace: disease_ontology
id: DOID:1426
in subset: NCIthesaurus

Axiom
annotated source: ureteral disease
annotated property: IAO_0000115
annotated target: A urinary system disease that is located_in the ureter.
type: ECO_0007644
has db xref: url:http://www.nlm.nih.gov/medlineplus/ureteraldisorders.html

fragile X syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function.
has db xref: GARD:6464
has db xref: ICD10CM:Q99.2
has db xref: ICD9CM:759.83
has db xref: MESH:D005600
has db xref: MIM:300624
has db xref: NCI:C84717
has db xref: ORDO:908
has db xref: SNOMEDCT_US_2023_03_01:390007001
has db xref: UMLS_CUI:C0016667
has exact synonym: FRAGILE X MENTAL RETARDATION SYNDROME
has exact synonym: MARKER X SYNDROME
has exact synonym: MARTIN-BELL SYNDROME
has OBO namespace: disease_ontology
id: DOID:14261
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: fragile X syndrome
annotated property: IAO_0000115
annotated target: A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function.
type: ECO_0007636
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Fragile_X_syndrome
has db xref: url:http://omim.org/entry/300624
has db xref: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=908

oral candidiasis
type: Class
subclass of: candidiasis
IAO_0000115: A candidiasis that involves fungal infection of the mucous membrane of the mouth by Candida species, which is characterized by thick white or cream-colored deposits on inflamed mucosal membranes.
has db xref: ICD10CM:B37.9
has db xref: ICD9CM:112.0
has db xref: MESH:D002180
has db xref: NCI:C28137
has db xref: SNOMEDCT_US_2023_03_01:187006006
has db xref: UMLS_CUI:C0006849
has exact synonym: Candidiasis of mouth
has exact synonym: Oral moniliasis
has exact synonym: Thrush, oral
has exact synonym: thrush
has OBO namespace: disease_ontology
id: DOID:14262
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: oral candidiasis
annotated property: IAO_0000115
annotated target: A candidiasis that involves fungal infection of the mucous membrane of the mouth by Candida species, which is characterized by thick white or cream-colored deposits on inflamed mucosal membranes.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Oral_candidiasis

benign neonatal seizures
type: Class
subclass of: epilepsy
IAO_0000115: A neonatal period electroclinical syndrome that is characterized by tonic-clonic seizures in newborns occurring within the first seven days of life and ceasing within the first 15 weeks of life and has_material_basis_in autosomal dominant inheritance of voltage-gated potassium channels or a chromosomal inversion.
has db xref: MESH:D020936
has db xref: MIM:121200
has db xref: MIM:121201
has db xref: MIM:269720
has db xref: NCI:C84593
has db xref: ORDO:1949
has db xref: SNOMEDCT_US_2023_03_01:38281008
has db xref: UMLS_CUI:C0270851
has exact synonym: benign familial neonatal seizures
has exact synonym: benign neonatal convulsions
has OBO namespace: disease_ontology
id: DOID:14264
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: benign neonatal seizures
annotated property: IAO_0000115
annotated target: A neonatal period electroclinical syndrome that is characterized by tonic-clonic seizures in newborns occurring within the first seven days of life and ceasing within the first 15 weeks of life and has_material_basis_in autosomal dominant inheritance of voltage-gated potassium channels or a chromosomal inversion.
type: ECO_0007636
type: ECO_0007638
type: ECO_0007646
has db xref: url:http://en.wikipedia.org/wiki/Benign_familial_neonatal_epilepsy
has db xref: url:http://www.ncbi.nlm.nih.gov/books/NBK32534/
has db xref: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=140927

pulmonary valve insufficiency
type: Class
subclass of: DOID 5749
IAO_0000115: A pulmonary valve disease that occurs when the pulmonary valve is not strong enough to prevent backflow into the right ventricle. If it is secondary to pulmonary hypertension it is referred to as a Graham Steell murmur.
has alternative id: DOID:11210
has db xref: MESH:D011665
has db xref: NCI:C62436
has db xref: SNOMEDCT_US_2023_03_01:91434003
has db xref: UMLS_CUI:C0034088
has exact synonym: Pulmonic insufficiency
has exact synonym: Pulmonic valve regurgitation
has exact synonym: pulmonary incompetence
has exact synonym: pulmonary incompetence, non-rheumatic
has exact synonym: pulmonary insufficiency following trauma and surgery
has exact synonym: pulmonary regurg.
has exact synonym: pulmonary regurgitation
has OBO namespace: disease_ontology
id: DOID:14265
in subset: NCIthesaurus
comment: Replacing outdated UMLS CUI.

Axiom
annotated source: pulmonary valve insufficiency
annotated property: IAO_0000115
annotated target: A pulmonary valve disease that occurs when the pulmonary valve is not strong enough to prevent backflow into the right ventricle. If it is secondary to pulmonary hypertension it is referred to as a Graham Steell murmur.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/pulmonary_insufficiency

suppurative cholangitis
type: Class
subclass of: DOID 9446
has db xref: ICD10CM:K83.09
has db xref: NCI:C35336
has db xref: SNOMEDCT_US_2023_03_01:197437002
has db xref: UMLS_CUI:C0267924
has OBO namespace: disease_ontology
id: DOID:14269
in subset: NCIthesaurus

ascending cholangitis
type: Class
subclass of: DOID 9446
has db xref: ICD10CM:K83.09
has db xref: NCI:C35372
has db xref: SNOMEDCT_US_2023_03_01:26918003
has db xref: UMLS_CUI:C0311273
has OBO namespace: disease_ontology
id: DOID:14270
in subset: NCIthesaurus

acute cholangitis
type: Class
subclass of: DOID 9446
has db xref: NCI:C35334
has db xref: SNOMEDCT_US_2023_03_01:6215006
has db xref: UMLS_CUI:C0267917
has OBO namespace: disease_ontology
id: DOID:14271
in subset: NCIthesaurus

pericholangitis
type: Class
subclass of: DOID 9446
has db xref: NCI:C34916
has db xref: SNOMEDCT_US_2023_03_01:111373008
has db xref: UMLS_CUI:C0031052
has OBO namespace: disease_ontology
id: DOID:14272
in subset: NCIthesaurus

primary hypertrophic osteoarthropathy
type: Class
subclass of: syndrome
has db xref: ICD10CM:M89.4
has db xref: MESH:D010004
has db xref: MIM:259100
has db xref: NCI:C85023
has db xref: SNOMEDCT_US_2023_03_01:88220006
has db xref: UMLS_CUI:C0029411
has exact synonym: Pachydermoperiostosis of nail
has exact synonym: Pachydermoperiostosis syndrome
has OBO namespace: disease_ontology
id: DOID:14283
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Ebstein anomaly
type: Class
subclass of: heart valve disease
IAO_0000115: A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart.
has db xref: GARD:6313
has db xref: ICD10CM:Q22.5
has db xref: ICD9CM:746.2
has db xref: MESH:D004437
has db xref: MIM:224700
has db xref: NCI:C84681
has db xref: SNOMEDCT_US_2023_03_01:1796006
has db xref: UMLS_CUI:C0013481
has exact synonym: Ebstein's anomaly
has exact synonym: Ebstein's anomaly of common atrioventricular valve
has exact synonym: Ebstein's anomaly of right atrioventricular valve
has exact synonym: Ebstein's anomaly of tricuspid valve
has OBO namespace: disease_ontology
id: DOID:14289
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Ebstein anomaly
annotated property: IAO_0000115
annotated target: A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Ebstein_anomaly

Noonan syndrome with multiple lentigines
type: Class
subclass of: syndrome
IAO_0000115: A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature.
has db xref: GARD:1100
has db xref: MESH:D044542
has db xref: MIM:PS151100
has db xref: NCI:C84820
has db xref: ORDO:500
has db xref: SNOMEDCT_US_2023_03_01:111306001
has db xref: UMLS_CUI:C0175704
has exact synonym: Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome
has exact synonym: Generalized lentiginosis
has exact synonym: Gorlin syndrome II
has exact synonym: LEOPARD syndrome
has exact synonym: Lentiginosis profusa syndrome
has exact synonym: Moynahan syndrome
has exact synonym: Multiple lentigines syndrome
has exact synonym: Progressive cardiomyopathic lentiginosis
has OBO namespace: disease_ontology
id: DOID:14291
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Noonan syndrome with multiple lentigines
annotated property: IAO_0000115
annotated target: A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature.
type: ECO_0007637
has db xref: url:https://ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines#inheritance
has db xref: url:https://rarediseases.info.nih.gov/diseases/1100/leopard-syndrome

vulvar dystrophy
type: Class
subclass of: vulvar disease
IAO_0000115: A vulvar disease that is characterized as irregular patchy areas of thickened skin and severe itching.
has db xref: ICD10CM:N90.4
has db xref: ICD9CM:624.0
has db xref: NCI:C34565
has db xref: SNOMEDCT_US_2023_03_01:198378001
has db xref: UMLS_CUI:C0013426
has exact synonym: Dystrophy of vulva
has OBO namespace: disease_ontology
id: DOID:14292
in subset: NCIthesaurus

Axiom
annotated source: vulvar dystrophy
annotated property: IAO_0000115
annotated target: A vulvar disease that is characterized as irregular patchy areas of thickened skin and severe itching.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/1449423

tuberculous empyema
type: Class
subclass of: pleural empyema
IAO_0000115: A pleural empyema which involves presence of pus in the pleural cavity and calcified visceral pleura. It results from a large number of mycobacteria spilling into the pleural space, usually from rupture of a cavity or an adjacent paranchymal focus via a bronchopleural fistula.
has db xref: MESH:D004654
has db xref: NCI:C34575
has db xref: SNOMEDCT_US_2023_03_01:186184002
has db xref: UMLS_CUI:C0014014
has OBO namespace: disease_ontology
id: DOID:14305
in subset: NCIthesaurus

Axiom
annotated source: tuberculous empyema
annotated property: IAO_0000115
annotated target: A pleural empyema which involves presence of pus in the pleural cavity and calcified visceral pleura. It results from a large number of mycobacteria spilling into the pleural space, usually from rupture of a cavity or an adjacent paranchymal focus via a bronchopleural fistula.
type: ECO_0007643
type: ECO_0007645
has db xref: url:http://erj.ersjournals.com/cgi/reprint/10/4/942
has db xref: url:https://www.merriam-webster.com/dictionary/empyema#medicalDictionary

skin epithelioid hemangioma
type: Class
subclass of: skin benign neoplasm
has db xref: MESH:D000796
has db xref: NCI:C7393
has db xref: SNOMEDCT_US_2023_03_01:254791004
has db xref: UMLS_CUI:C0002989
has exact synonym: Angiolymphoid Cutaneous hyperplasia
has exact synonym: epithelioid hemangioma of skin
has OBO namespace: disease_ontology
id: DOID:14308
in subset: NCIthesaurus

generalized anxiety disorder
type: Class
subclass of: anxiety disorder
IAO_0000115: An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation.
has db xref: ICD10CM:F41.1
has db xref: ICD9CM:300.02
has db xref: NCI:C92622
has db xref: SNOMEDCT_US_2023_03_01:192401002
has db xref: UMLS_CUI:C0270549
has OBO namespace: disease_ontology
id: DOID:14320
in subset: NCIthesaurus

Axiom
annotated source: generalized anxiety disorder
annotated property: IAO_0000115
annotated target: An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Anxiety_disorder

Marfan syndrome
type: Class
subclass of: DOID 65
IAO_0000115: A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.
has db xref: GARD:6975
has db xref: ICD10CM:Q87.4
has db xref: ICD9CM:759.82
has db xref: MESH:D008382
has db xref: MIM:154700
has db xref: NCI:C34807
has db xref: SNOMEDCT_US_2023_03_01:19346006
has db xref: UMLS_CUI:C0024796
has exact synonym: Marfan's syndrome
has OBO namespace: disease_ontology
id: DOID:14323
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Marfan syndrome
annotated property: IAO_0000115
annotated target: A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.
type: ECO_0007636
type: ECO_0007637
has db xref: url:https://ghr.nlm.nih.gov/condition/marfan-syndrome#inheritance
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C34807
has db xref: url:https://rarediseases.org/rare-diseases/marfan-syndrome/

Plasmodium malariae malaria
type: Class
subclass of: malaria
IAO_0000115: A malaria caused by a parasite Plasmodium malariae, which is marked by recurrence of paroxysms at 72-hour intervals.
has db xref: ICD10CM:B52
has db xref: ICD9CM:084.2
has db xref: NCI:C34799
has db xref: SNOMEDCT_US_2023_03_01:27618009
has db xref: UMLS_CUI:C0024536
has exact synonym: Malaria by Plasmodium malariae
has exact synonym: Quartan Malaria
has OBO namespace: disease_ontology
id: DOID:14324
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: Plasmodium malariae malaria
annotated property: IAO_0000115
annotated target: A malaria caused by a parasite Plasmodium malariae, which is marked by recurrence of paroxysms at 72-hour intervals.
type: ECO_0007643
has db xref: url:https://www.merriam-webster.com/medical/malariae%20malaria

Parkinson's disease
type: Class
subclass of: neurodegenerative disease
IAO_0000115: A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.
has db xref: GARD:10251
has db xref: ICD10CM:G20
has db xref: ICD9CM:332
has db xref: KEGG:05012
has db xref: MESH:D010300
has db xref: MIM:PS168600
has db xref: NCI:C26845
has db xref: ORDO:2828
has db xref: SNOMEDCT_US_2023_03_01:49049000
has db xref: UMLS_CUI:C0030567
has exact synonym: Parkinson disease
has exact synonym: paralysis agitans
has OBO namespace: disease_ontology
id: DOID:14330
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Parkinson's disease
annotated property: IAO_0000115
annotated target: A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Parkinson%27s_disease
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/26474316/
has db xref: url:https://www.ncbi.nlm.nih.gov/articles/PMC5877503/

postencephalitic Parkinson disease
type: Class
subclass of: secondary Parkinson disease
has db xref: ICD10CM:G21.3
has db xref: MESH:D010301
has db xref: NCI:C34898
has db xref: SNOMEDCT_US_2023_03_01:192828004
has db xref: UMLS_CUI:C0030568
has exact synonym: postencephalitic parkinsonism
has OBO namespace: disease_ontology
id: DOID:14332
in subset: NCIthesaurus

estrogen excess
type: Class
subclass of: ovarian disease
IAO_0000115: An ovarian dysfunction that is characterized by a higher than normal ratio of estrogen.
has db xref: ICD10CM:E28.0
has db xref: ICD9CM:256.0
has db xref: NCI:C113344
has db xref: SNOMEDCT_US_2023_03_01:190533004
has db xref: UMLS_CUI:C0154209
has exact synonym: hyperestrogenism
has OBO namespace: disease_ontology
id: DOID:14336
in subset: NCIthesaurus

Axiom
annotated source: estrogen excess
annotated property: IAO_0000115
annotated target: An ovarian dysfunction that is characterized by a higher than normal ratio of estrogen.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Hyperestrogenism

suppurative thyroiditis
type: Class
subclass of: DOID 7166
has db xref: ICD10CM:E06.0
has db xref: MESH:D013969
has db xref: NCI:C129724
has db xref: SNOMEDCT_US_2023_03_01:3511005
has db xref: UMLS_CUI:C0040150
has exact synonym: Infectious thyroiditis
has exact synonym: acute suppurative thyroiditis
has OBO namespace: disease_ontology
id: DOID:14350
in subset: NCIthesaurus

Riedel's fibrosing thyroiditis
type: Class
subclass of: DOID 7166
has db xref: ICD10CM:E06.5
has db xref: NCI:C35827
has db xref: SNOMEDCT_US_2023_03_01:190298005
has db xref: UMLS_CUI:C0154162
has exact synonym: Riedel fibrosing thyroiditis
has OBO namespace: disease_ontology
id: DOID:14351
in subset: NCIthesaurus

systemic primary carnitine deficiency disease
type: Class
subclass of: DOID 9252
IAO_0000115: An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy.
has alternative id: DOID:1668
has db xref: ICD10CM:E71.41
has db xref: ICD9CM:277.81
has db xref: MESH:C536778
has db xref: MIM:212140
has db xref: NCI:C98864
has db xref: SNOMEDCT_US_2023_03_01:21764004
has db xref: UMLS_CUI:C0342788
has exact synonym: carnitine transporter deficiency
has exact synonym: carnitine uptake defect
has exact synonym: deficiency of plasma-membrane carnitine transporter
has exact synonym: primary carnitine deficiency
has exact synonym: renal carnitine transport defect
has OBO namespace: disease_ontology
id: DOID:14365
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: systemic primary carnitine deficiency disease
annotated property: IAO_0000115
annotated target: An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Carnitine_deficiency

norwegian scabies
type: Class
subclass of: DOID 8295
IAO_0000115: A scabies that involves infestation of human itch mite Sarcoptes scabiei type hominis in immunocompromised and elderly persons, which is characterized by vesicles and formation of thick crusts over the skin, accompanied by abundant mites but only slight itching.
has db xref: NCI:C34855
has db xref: SNOMEDCT_US_2023_03_01:128870005
has db xref: UMLS_CUI:C0028425
has exact synonym: Crusted scabies
has OBO namespace: disease_ontology
id: DOID:14374
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: norwegian scabies
annotated property: IAO_0000115
annotated target: A scabies that involves infestation of human itch mite Sarcoptes scabiei type hominis in immunocompromised and elderly persons, which is characterized by vesicles and formation of thick crusts over the skin, accompanied by abundant mites but only slight itching.
type: ECO_0007637
has db xref: url:http://www.dpd.cdc.gov/dpdx/HTML/Scabies.htm

parietal lobe neoplasm
type: Class
subclass of: cerebrum cancer
IAO_0000115: A cerebrum cancer that is located_in the parietal lobe.
has alternative id: DOID:14383
has db xref: ICD10CM:C71.3
has db xref: ICD9CM:191.3
has db xref: NCI:C5573
has db xref: SNOMEDCT_US_2023_03_01:126956001
has db xref: SNOMEDCT_US_2023_03_01:93946000
has db xref: UMLS_CUI:C0153637
has db xref: UMLS_CUI:C1263888
has exact synonym: malignant neoplasm of parietal lobe
has exact synonym: tumor of Parietal Lobe
has OBO namespace: disease_ontology
id: DOID:14384
in subset: NCIthesaurus

Axiom
annotated source: parietal lobe neoplasm
annotated property: IAO_0000115
annotated target: A cerebrum cancer that is located_in the parietal lobe.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Parietal_lobe

pyuria
type: Class
subclass of: urinary system disease
has db xref: ICD10CM:R82.81
has db xref: MESH:D011776
has db xref: NCI:C119028
has db xref: SNOMEDCT_US_2023_03_01:4800001
has db xref: UMLS_CUI:C0034359
has exact synonym: Pus cells in urine
has OBO namespace: disease_ontology
id: DOID:1439
in subset: NCIthesaurus

Machado-Joseph disease
type: Class
subclass of: autosomal dominant cerebellar ataxia
IAO_0000115: An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene.
has db xref: GARD:6801
has db xref: MESH:D017827
has db xref: MIM:109150
has db xref: NCI:C84830
has db xref: ORDO:98757
has db xref: SNOMEDCT_US_2023_03_01:91952008
has db xref: UMLS_CUI:C0024408
has exact synonym: Azorean disease
has exact synonym: MJD
has exact synonym: SCA3
has exact synonym: spinocerebellar ataxia 3
has exact synonym: spinocerebellar ataxia type 3
has OBO namespace: disease_ontology
id: DOID:1440
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Machado-Joseph disease
annotated property: IAO_0000115
annotated target: An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Machado%E2%80%93Joseph_disease

Axiom
annotated source: Machado-Joseph disease
annotated property: hasExactSynonym
annotated target: MJD
has synonym type: OMO_0003012

Axiom
annotated source: Machado-Joseph disease
annotated property: hasExactSynonym
annotated target: SCA3
has synonym type: OMO_0003012

capillary leak syndrome
type: Class
subclass of: vascular disease
IAO_0000115: A capillary disease characterized by hypotension, hypoalbuminemia, and hemoconcentration resulting from fluid and protein leakage out of capillaries into surrounding tissues.
has db xref: GARD:1084
has db xref: MESH:D019559
has db xref: NCI:C62578
has db xref: ORDO:188
has db xref: SNOMEDCT_US_2023_03_01:87730004
has db xref: UMLS_CUI:C0343084
has OBO namespace: disease_ontology
id: DOID:14400
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: capillary leak syndrome
annotated property: IAO_0000115
annotated target: A capillary disease characterized by hypotension, hypoalbuminemia, and hemoconcentration resulting from fluid and protein leakage out of capillaries into surrounding tissues.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5481509/

autosomal dominant cerebellar ataxia
type: Class
subclass of: neurodegenerative disease
IAO_0000115: A cerebellar ataxia that has_material_basis_in autosomal dominant inheritance.
has alternative id: DOID:2478
has db xref: MESH:D020754
has db xref: MIM:PS164400
has db xref: NCI:C82341
has db xref: ORDO:94
has db xref: SNOMEDCT_US_2023_03_01:129609000
has db xref: UMLS_CUI:C0087012
has exact synonym: spinocerebellar ataxia
has OBO namespace: disease_ontology
id: DOID:1441
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: autosomal dominant cerebellar ataxia
annotated property: IAO_0000115
annotated target: A cerebellar ataxia that has_material_basis_in autosomal dominant inheritance.
type: ECO_0007646
has db xref: url:http://www.ncbi.nlm.nih.gov/books/NBK1138/
has db xref: url:http://www.ncbi.nlm.nih.gov/books/NBK22234/

Legg-Calve-Perthes disease
type: Class
subclass of: DOID 8125
IAO_0000115: An osteochondrosis that results_in death and fracture located_in hip joint.
has alternative id: DOID:14561
has db xref: GARD:6874
has db xref: ICD10CM:M91.2
has db xref: MESH:D007873
has db xref: MIM:150600
has db xref: NCI:C34766
has db xref: SNOMEDCT_US_2023_03_01:15739006
has db xref: SNOMEDCT_US_2023_03_01:270545000
has db xref: UMLS_CUI:C0022441
has db xref: UMLS_CUI:C0023234
has exact synonym: Calve - Perthes' disease
has exact synonym: Coxa plana
has exact synonym: Juvenile osteochond-hip/pelvis
has exact synonym: Juvenile osteochondrosis of hip and/or pelvis
has exact synonym: Perthe's disease
has exact synonym: Perthes disease
has exact synonym: juvenile osteochondrosis of hip and pelvis
has exact synonym: osteochondrosis of Legg-Calve-Perthes
has exact synonym: pseudocoxalgia
has OBO namespace: disease_ontology
has related synonym: Legg-Calve-Perthes symptom
id: DOID:14415
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Legg-Calve-Perthes disease
annotated property: IAO_0000115
annotated target: An osteochondrosis that results_in death and fracture located_in hip joint.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Legg%E2%80%93Calv%C3%A9%E2%80%93Perthes_syndrome

dracunculiasis
type: Class
subclass of: DOID 883
IAO_0000115: A parasitic helminthiasis infectious disease that involves parasitic infection by the larvae of the nematode Dracunculus medinensis, which are transmitted to humans by drinking water containing copepods infected with the larvae. The female, which contains larvae, burrows into the deeper connective tissues or adjacent to long bones or joints of the extremities. The worm emerges as a whitish filament in the center of a painful ulcer, accompanied by inflammation and frequently by secondary bacterial infection.
has db xref: GARD:6286
has db xref: ICD10CM:B72
has db xref: ICD9CM:125.7
has db xref: MESH:D004320
has db xref: NCI:C84677
has db xref: SNOMEDCT_US_2023_03_01:48874008
has db xref: UMLS_CUI:C0013100
has exact synonym: Dracontiasis
has exact synonym: Infection by Dracunculus medinensis
has OBO namespace: disease_ontology
id: DOID:14418
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: dracunculiasis
annotated property: IAO_0000115
annotated target: A parasitic helminthiasis infectious disease that involves parasitic infection by the larvae of the nematode Dracunculus medinensis, which are transmitted to humans by drinking water containing copepods infected with the larvae. The female, which contains larvae, burrows into the deeper connective tissues or adjacent to long bones or joints of the extremities. The worm emerges as a whitish filament in the center of a painful ulcer, accompanied by inflammation and frequently by secondary bacterial infection.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Dracunculiasis
has db xref: url:http://www.dpd.cdc.gov/dpdx/HTML/Dracunculiasis.htm

dipetalonemiasis
type: Class
subclass of: filariasis
IAO_0000115: 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.
has db xref: ICD9CM:125.4
has db xref: MESH:D004154
has db xref: NCI:C34540
has db xref: SNOMEDCT_US_2023_03_01:15629006
has db xref: UMLS_CUI:C0012517
has exact synonym: Infection by Dipetalonema
has exact synonym: Infection by Dipetalonema perstans
has exact synonym: dipetalonema infectious disease
has OBO namespace: disease_ontology
id: DOID:14422
in subset: DO infectious disease slim
in subset: NCIthesaurus
in subset: zoonotic infectious disease

Axiom
annotated source: dipetalonemiasis
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007646
has db xref: url:http://books.google.com/books?id=OBZbR4vpg0YC&pg=PA158&lpg#v=onepage&q&f=false

gonadal dysgenesis
type: Class
subclass of: gonadal disease
IAO_0000115: A disorder of sexual development that is characterized by a progressive loss of germ cells on the developing gonads of an embryo.
has db xref: GARD:2538
has db xref: ICD9CM:758.6
has db xref: MESH:D006059
has db xref: NCI:C61420
has db xref: SNOMEDCT_US_2023_03_01:268356004
has db xref: UMLS_CUI:C0018051
has exact synonym: Gonadal dysgenesis syndrome
has OBO namespace: disease_ontology
id: DOID:14447
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: gonadal dysgenesis
annotated property: IAO_0000115
annotated target: A disorder of sexual development that is characterized by a progressive loss of germ cells on the developing gonads of an embryo.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Gonadal_dysgenesis

46,XY complete gonadal dysgenesis
type: Class
subclass of: gonadal dysgenesis
IAO_0000115: A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo.
has db xref: MESH:D006061
has db xref: MIM:PS400044
has db xref: NCI:C120198
has db xref: UMLS_CUI:C0018054
has exact synonym: 46 XY gonadal dysgenesis
has exact synonym: 46,XY sex reversal
has exact synonym: Pure gonadal dysgenesis 46,XY
has exact synonym: Swyer syndrome
has OBO namespace: disease_ontology
id: DOID:14448
in subset: NCIthesaurus
comment: The term 46,XY DSD has replaced the following terms Male pseudohermaphrodite, Undervirilization of an XY male, Undermasculinization of an XY male, Mixed gonadal dysgenesis, Partial gonadal dysgenesis. OMIM mapping confirmed by DO. [SN]. OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: 46,XY complete gonadal dysgenesis
annotated property: IAO_0000115
annotated target: A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/XY_gonadal_dysgenesis
has db xref: url:https://ghr.nlm.nih.gov/condition/swyer-syndrome#synonyms

mixed gonadal dysgenesis
type: Class
subclass of: gonadal dysgenesis
IAO_0000115: A gonadal dysgenesis that is characterized by progressive loss of primordial cells on the developing glands of an embryo, leading to extremely hypoplastic and dysfuctioning gonads resulting in one differentiated gonad and either a streak gonad or streak testis.
has db xref: MESH:D006060
has db xref: NCI:C120199
has db xref: SNOMEDCT_US_2023_03_01:205682006
has db xref: UMLS_CUI:C0018055
has OBO namespace: disease_ontology
id: DOID:14449
in subset: NCIthesaurus

Axiom
annotated source: mixed gonadal dysgenesis
annotated property: IAO_0000115
annotated target: A gonadal dysgenesis that is characterized by progressive loss of primordial cells on the developing glands of an embryo, leading to extremely hypoplastic and dysfuctioning gonads resulting in one differentiated gonad and either a streak gonad or streak testis.
has db xref: url:https://www.pathologyoutlines.com/topic/ovarynontumormixedgonadaldysgenesis.html

46 XX gonadal dysgenesis
type: Class
subclass of: gonadal dysgenesis
IAO_0000115: A gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female.
has db xref: MESH:D023961
has db xref: MIM:PS233300
has db xref: NCI:C120197
has db xref: ORDO:243
has db xref: UMLS_CUI:C0949595
has exact synonym: ovarian dysgenesis
has OBO namespace: disease_ontology
id: DOID:14450
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: 46 XX gonadal dysgenesis
annotated property: IAO_0000115
annotated target: A gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female.
type: ECO_0007636
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/XX_gonadal_dysgenesis
has db xref: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=243

hyperkalemic periodic paralysis
type: Class
subclass of: familial periodic paralysis
has db xref: GARD:195
has db xref: ICD10CM:G72.3
has db xref: MESH:D020513
has db xref: MIM:170500
has db xref: NCI:C123429
has db xref: ORDO:682
has db xref: SNOMEDCT_US_2023_03_01:304737009
has db xref: UMLS_CUI:C0238357
has exact synonym: familial hyperkalemic periodic paralysis
has OBO namespace: disease_ontology
id: DOID:14451
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

hypokalemic periodic paralysis
type: Class
subclass of: familial periodic paralysis
has db xref: GARD:5557
has db xref: GARD:6729
has db xref: ICD10CM:G72.3
has db xref: MESH:D020514
has db xref: MIM:170400
has db xref: MIM:613345
has db xref: NCI:C84775
has db xref: ORDO:681
has db xref: SNOMEDCT_US_2023_03_01:240093008
has db xref: UMLS_CUI:C0238358
has exact synonym: Hypokalemic familial periodic paralysis
has exact synonym: Periodic paralysis I
has exact synonym: Westphal disease
has exact synonym: familial hypokalemic periodic paralysis
has exact synonym: periodic hypokalemic paralysis
has OBO namespace: disease_ontology
id: DOID:14452
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

farmer's lung
type: Class
subclass of: DOID 841
IAO_0000115: 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.
has db xref: GARD:6427
has db xref: ICD10CM:J67.0
has db xref: ICD9CM:495.0
has db xref: MESH:D005203
has db xref: NCI:C34605
has db xref: SNOMEDCT_US_2023_03_01:155581001
has db xref: UMLS_CUI:C0015634
has exact synonym: Farmers lung
has exact synonym: farmer lung
has OBO namespace: disease_ontology
id: DOID:14453
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: farmer's lung
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007637
type: ECO_0007643
has db xref: url:http://www.merck.com/media/mmpe/pdf/Table_055-5.pdf
has db xref: url:http://www.merriam-webster.com/dictionary/farmer%27s%20lung

hemangioma of orbit
type: Class
subclass of: DOID 65
has db xref: NCI:C6245
has db xref: SNOMEDCT_US_2023_03_01:121951000119101
has db xref: UMLS_CUI:C1335128
has exact synonym: Angioma of the orbit
has OBO namespace: disease_ontology
id: DOID:14459
in subset: NCIthesaurus

cavernous hemangioma of orbit
type: Class
subclass of: DOID 483
has db xref: NCI:C4546
has db xref: SNOMEDCT_US_2023_03_01:254998002
has db xref: UMLS_CUI:C0346352
has exact synonym: Cavernous Angioma of orbit
has OBO namespace: disease_ontology
id: DOID:14463
in subset: NCIthesaurus

neuroleptic malignant syndrome
type: Class
subclass of: DOID 863
IAO_0000115: A nervous system disease that is characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness and is associated with administration of antipsychotic and other central dopaminergic blockers.
has db xref: GARD:7195
has db xref: ICD10CM:G21.0
has db xref: ICD9CM:333.92
has db xref: MESH:D009459
has db xref: NCI:C94829
has db xref: ORDO:94093
has db xref: SNOMEDCT_US_2023_03_01:15244003
has db xref: UMLS_CUI:C0027849
has OBO namespace: disease_ontology
id: DOID:14464
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: neuroleptic malignant syndrome
annotated property: IAO_0000115
annotated target: A nervous system disease that is characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness and is associated with administration of antipsychotic and other central dopaminergic blockers.
type: ECO_0007636
has db xref: url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=12561

hantavirus pulmonary syndrome
type: Class
subclass of: DOID 934
IAO_0000115: A viral infectious disease that results in infection located in lung, has_material_basis_in Orthohantavirus sinnombreense, transmitted by deer mouse (Myodes glareolus), has_material_basis_in Orthohantavirus nigrorivense, transmitted by cotton rat (Sigmodon hispidus), has_material_basis_in Orthohantavirus bayoui, transmitted by marsh rice rat (Oryzomys palustris), has_material_basis_in Orthohantavirus negraense, transmitted by small vesper mouse (Calomys laucha), or has_material_basis_in Orthohantavirus andesense, transmitted by rice rat (Oligoryzomys longicaudatus). The infection has _symptom fever, muscle pain, headache, cough, vomiting, and chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications.
has db xref: GARD:69
has db xref: ICD10CM:B33.4
has db xref: MESH:D018804
has db xref: NCI:C84747
has db xref: ORDO:319247
has db xref: SNOMEDCT_US_2023_03_01:120639003
has db xref: UMLS_CUI:C0243025
has exact synonym: HPS
has OBO namespace: disease_ontology
id: DOID:14472
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus
in subset: zoonotic infectious disease
broad match: ICD9CM:079.81
broad match: ICD9CM:480.8

Axiom
annotated source: hantavirus pulmonary syndrome
annotated property: IAO_0000115
annotated target: A viral infectious disease that results in infection located in lung, has_material_basis_in Orthohantavirus sinnombreense, transmitted by deer mouse (Myodes glareolus), has_material_basis_in Orthohantavirus nigrorivense, transmitted by cotton rat (Sigmodon hispidus), has_material_basis_in Orthohantavirus bayoui, transmitted by marsh rice rat (Oryzomys palustris), has_material_basis_in Orthohantavirus negraense, transmitted by small vesper mouse (Calomys laucha), or has_material_basis_in Orthohantavirus andesense, transmitted by rice rat (Oligoryzomys longicaudatus). The infection has _symptom fever, muscle pain, headache, cough, vomiting, and chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications.
type: ECO_0007637
type: ECO_0007643
has db xref: url:http://www.cdc.gov/ncidod/diseases/hanta/hps/noframes/generalinfoindex.htm
has db xref: url:http://www.ncbi.nlm.nih.gov/sites/entrez/10742726
has db xref: url:https://www.merriam-webster.com/medical/hantavirus%20pulmonary%20syndrome

Axiom
annotated source: hantavirus pulmonary syndrome
annotated property: hasExactSynonym
annotated target: HPS
has synonym type: OMO_0003012

pemphigoid gestationis
type: Class
subclass of: disease
IAO_0000115: A pemphigoid that is characterized by erythematous papules, vesicles, and plaques around the trunk and extremities that develop during pregnancy, particularly during the second and third trimesters, has_symptom pruritis, and has_material_basis_in autoantibodies to the basement membrane, which triggers a complement cascade and attracts eosinophils to the subepidermis.
has db xref: ICD10CM:O26.4
has db xref: MESH:D006559
has db xref: NCI:C85003
has db xref: SNOMEDCT_US_2023_03_01:86081009
has db xref: UMLS_CUI:C0019343
has exact synonym: Gestational herpes
has exact synonym: herpes gestationis
has OBO namespace: disease_ontology
id: DOID:14482
in subset: NCIthesaurus

Axiom
annotated source: pemphigoid gestationis
annotated property: IAO_0000115
annotated target: A pemphigoid that is characterized by erythematous papules, vesicles, and plaques around the trunk and extremities that develop during pregnancy, particularly during the second and third trimesters, has_symptom pruritis, and has_material_basis_in autoantibodies to the basement membrane, which triggers a complement cascade and attracts eosinophils to the subepidermis.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3062810/

ureteral lymphoma
type: Class
subclass of: ureter cancer
has db xref: NCI:C6175
has db xref: UMLS_CUI:C1336876
has exact synonym: lymphoma of ureter
has OBO namespace: disease_ontology
id: DOID:14489
in subset: NCIthesaurus

regional ureteric cancer
type: Class
subclass of: DOID 4939
has db xref: NCI:C9356
has db xref: UMLS_CUI:C0854921
has exact synonym: regional Ureteric carcinoma
has exact synonym: regional malignant ureteral tumor
has OBO namespace: disease_ontology
id: DOID:14491
in subset: NCIthesaurus

dumping syndrome
type: Class
subclass of: DOID 5295
subclass of: DOID 76
has db xref: ICD10CM:K91.1
has db xref: MESH:D004377
has db xref: NCI:C2994
has db xref: SNOMEDCT_US_2023_03_01:155785007
has db xref: UMLS_CUI:C0013288
has exact synonym: Dumping (jejunal) syndrome
has exact synonym: Jejunal syndrome
has OBO namespace: disease_ontology
id: DOID:14495
in subset: NCIthesaurus

Wolman disease
type: Class
subclass of: lysosomal storage disease
IAO_0000115: A lysosomal acid lipase deficiency characterized by infantile onset of rapidly progressive accumulation of cholesteryl esters and triglycerides throughout the body, resulting in hepatosplenomegaly, severe malnutrition, jaundice, vomiting, diarrhea, steatorrhea. Death usually occurs within the first year of life.
has db xref: GARD:7899
has db xref: ICD10CM:E75.5
has db xref: MESH:D015223
has db xref: MIM:620151
has db xref: NCI:C61271
has db xref: ORDO:75233
has db xref: SNOMEDCT_US_2023_03_01:82500001
has db xref: UMLS_CUI:C0043208
has exact synonym: Acid esterase deficiency
has exact synonym: Acid lipase deficiency
has exact synonym: Wolman xanthomatosis
has exact synonym: Wolman's disease
has exact synonym: Wolman's or triglyceride storage type III disease
has exact synonym: Xanthomatosis, familial
has exact synonym: acute infantile lysosomal acid lipase deficiency
has exact synonym: complete LAL deficiency
has exact synonym: complete LIPA deficiency
has exact synonym: complete cholesterol ester hydrolase deficiency
has exact synonym: complete lysosomal acid lipase deficiency
has OBO namespace: disease_ontology
id: DOID:14497
in subset: DO rare slim
in subset: NCIthesaurus
broad match: ICD10CM:E75.5

Axiom
annotated source: Wolman disease
annotated property: IAO_0000115
annotated target: A lysosomal acid lipase deficiency characterized by infantile onset of rapidly progressive accumulation of cholesteryl esters and triglycerides throughout the body, resulting in hepatosplenomegaly, severe malnutrition, jaundice, vomiting, diarrhea, steatorrhea. Death usually occurs within the first year of life.
type: ECO_0007640
type: ECO_0007646
has db xref: url:https://medlineplus.gov/genetics/condition/lysosomal-acid-lipase-deficiency/
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK395569/

lipoid proteinosis
type: Class
subclass of: DOID 655
has db xref: GARD:3268
has db xref: MESH:D008065
has db xref: MIM:247100
has db xref: NCI:C84829
has db xref: SNOMEDCT_US_2023_03_01:38692000
has db xref: UMLS_CUI:C0023795
has exact synonym: Lipid proteinosis
has exact synonym: URBACH-WIETHE DISEASE
has OBO namespace: disease_ontology
id: DOID:14498
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Fabry disease
type: Class
subclass of: sphingolipidosis
IAO_0000115: A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22.
has db xref: GARD:6400
has db xref: ICD10CM:E75.21
has db xref: MESH:D000795
has db xref: MIM:301500
has db xref: NCI:C84701
has db xref: SNOMEDCT_US_2023_03_01:16652001
has db xref: UMLS_CUI:C0002986
has exact synonym: Alpha-galactosidase A deficiency
has exact synonym: Angiokeratoma Corporis Diffusum
has exact synonym: Fabry Disease, Cardiac Variant
has exact synonym: Fabry's disease
has exact synonym: alpha galactosidase deficiency
has exact synonym: deficiency of melibiase
has OBO namespace: disease_ontology
id: DOID:14499
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Fabry disease
annotated property: IAO_0000115
annotated target: A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22.
type: ECO_0007637
has db xref: url:https://ghr.nlm.nih.gov/condition/fabry-disease

fucosidosis
type: Class
subclass of: lysosomal storage disease
has db xref: GARD:6473
has db xref: ICD10CM:E77.1
has db xref: MESH:D005645
has db xref: MIM:230000
has db xref: NCI:C61274
has db xref: SNOMEDCT_US_2023_03_01:64716005
has db xref: UMLS_CUI:C0016788
has exact synonym: A-fucosidase deficiency
has exact synonym: alpha fucosidase deficiency
has OBO namespace: disease_ontology
id: DOID:14500
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Sjogren-Larsson syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member A2 (ALDH3A2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11.
has db xref: GARD:7654
has db xref: MESH:D016111
has db xref: MIM:270200
has db xref: NCI:C85070
has db xref: ORDO:816
has db xref: SNOMEDCT_US_2023_03_01:111303009
has db xref: UMLS_CUI:C0037231
has exact synonym: FALDH deficiency
has exact synonym: SLS
has exact synonym: Sjogren Larsson syndrome
has exact synonym: Sjogren-Larsson's syndrome
has exact synonym: fatty acid alcohol oxidoreductase deficiency
has OBO namespace: disease_ontology
id: DOID:14501
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: Sjogren-Larsson syndrome
annotated property: IAO_0000115
annotated target: A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member A2 (ALDH3A2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11.
type: ECO_0007636
type: ECO_0007637
has db xref: url:https://ghr.nlm.nih.gov/condition/sjogren-larsson-syndrome
has db xref: url:https://www.omim.org/entry/270200

Axiom
annotated source: Sjogren-Larsson syndrome
annotated property: hasExactSynonym
annotated target: SLS
has synonym type: OMO_0003012

neuronal ceroid lipofuscinosis
type: Class
subclass of: lysosomal storage disease
has db xref: GARD:10739
has db xref: ICD10CM:E75.4
has db xref: MESH:D009472
has db xref: MIM:PS256730
has db xref: NCI:C61257
has db xref: ORDO:216
has db xref: ORDO:79262
has db xref: SNOMEDCT_US_2023_03_01:42012007
has db xref: UMLS_CUI:C0027877
has exact synonym: hereditary ceroid lipofuscinosis
has OBO namespace: disease_ontology
id: DOID:14503
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS].

Niemann-Pick disease
type: Class
subclass of: sphingolipidosis
IAO_0000115: A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells.
has alternative id: DOID:0050442
has alternative id: DOID:0050443
has alternative id: DOID:14770
has db xref: GARD:13334
has db xref: ICD10CM:E75.24
has db xref: MESH:D009542
has db xref: NCI:C61269
has db xref: SNOMEDCT_US_2023_03_01:58459009
has db xref: UMLS_CUI:C0028064
has exact synonym: Sphingomyelinase Deficiency Disease
has exact synonym: lipoid histiocytosis
has exact synonym: sphingomyelin lipidosis
has OBO namespace: disease_ontology
id: DOID:14504
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Niemann-Pick disease
annotated property: IAO_0000115
annotated target: A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells.
type: ECO_0007637
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Niemann-Pick_disease
has db xref: url:https://rarediseases.info.nih.gov/diseases/13334/niemann-pick-disease

WAGR syndrome
type: Class
subclass of: DOID 630
IAO_0000115: A chromosomal deletion syndrome that is a nephroblastoma that results_in a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor, Aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes.
has db xref: GARD:5528
has db xref: MESH:D017624
has db xref: MIM:194072
has db xref: NCI:C3718
has db xref: SNOMEDCT_US_2023_03_01:715215007
has db xref: UMLS_CUI:C0206115
has exact synonym: 11p partial monosomy syndrome
has exact synonym: Wilms tumor-Aniridia-Genitourinary Anomalies-Mental Retardation syndrome
has exact synonym: chromosome 11p13 deletion syndrome
has OBO namespace: disease_ontology
id: DOID:14515
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: WAGR syndrome
annotated property: IAO_0000115
annotated target: A chromosomal deletion syndrome that is a nephroblastoma that results_in a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor, Aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/WAGR_syndrome

partial arterial retinal occlusion
type: Class
subclass of: DOID 8483
has db xref: ICD10CM:H34.21
has db xref: ICD9CM:362.33
has db xref: NCI:C35192
has db xref: SNOMEDCT_US_2023_03_01:776009
has db xref: UMLS_CUI:C0154839
has exact synonym: Retinal partial arterial occlusion
has exact synonym: partial retinal arterial occlusion
has OBO namespace: disease_ontology
id: DOID:14522
in subset: NCIthesaurus

Reye syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by acute brain damage and liver function problems. It has been associated with aspirin consumption by children with viral illness, although it also occurs in the absence of aspirin use.
has db xref: GARD:7570
has db xref: ICD10CM:G93.7
has db xref: ICD9CM:331.81
has db xref: MESH:D012202
has db xref: NCI:C34983
has db xref: SNOMEDCT_US_2023_03_01:74351001
has db xref: UMLS_CUI:C0035400
has exact synonym: Reye's syndrome
has OBO namespace: disease_ontology
id: DOID:14525
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Reye syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by acute brain damage and liver function problems. It has been associated with aspirin consumption by children with viral illness, although it also occurs in the absence of aspirin use.
type: ECO_0007638
type: ECO_0007645
has db xref: url:https://en.wikipedia.org/wiki/Reye_syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/2680560

malignant cardiac peripheral nerve sheath neoplasm
type: Class
subclass of: DOID 5940
has db xref: NCI:C5367
has db xref: UMLS_CUI:C1334569
has exact synonym: MPNST of Heart
has OBO namespace: disease_ontology
id: DOID:14534
in subset: NCIthesaurus

malignant cardiac germ cell tumor
type: Class
subclass of: heart cancer
has db xref: NCI:C5371
has db xref: SNOMEDCT_US_2023_03_01:866080006
has db xref: UMLS_CUI:C1334566
has exact synonym: malignant cardiac germ cell tumour
has exact synonym: malignant germ cell tumor of the Heart
has exact synonym: malignant germ cell tumour of the Heart
has OBO namespace: disease_ontology
id: DOID:14535
in subset: NCIthesaurus

rete testis adenocarcinoma
type: Class
subclass of: DOID 5639
IAO_0000115: A rete testis neoplasm that derives_from epithelial cells of glandular origin.
has db xref: NCI:C8955
has db xref: UMLS_CUI:C0863024
has exact synonym: adenocarcinoma of the rete testis
has OBO namespace: disease_ontology
has related synonym: adenocarcinoma of rete testis
id: DOID:14544
in subset: NCIthesaurus

Axiom
annotated source: rete testis adenocarcinoma
annotated property: IAO_0000115
annotated target: A rete testis neoplasm that derives_from epithelial cells of glandular origin.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Adenocarcinoma

seminal vesicle adenocarcinoma
type: Class
subclass of: male reproductive organ cancer
IAO_0000115: A male reproductive organ cancer that derives_from epithelial cells of glandular origin.
has db xref: NCI:C39906
has db xref: UMLS_CUI:C1519233
has OBO namespace: disease_ontology
id: DOID:14545
in subset: NCIthesaurus

Axiom
annotated source: seminal vesicle adenocarcinoma
annotated property: IAO_0000115
annotated target: A male reproductive organ cancer that derives_from epithelial cells of glandular origin.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Adenocarcinoma

sphenoidal sinus cancer
type: Class
subclass of: paranasal sinus cancer
has db xref: ICD10CM:C31.3
has db xref: ICD9CM:160.5
has db xref: NCI:C3543
has db xref: SNOMEDCT_US_2023_03_01:94067008
has db xref: UMLS_CUI:C0153479
has exact synonym: malignant tumor of Sphenoidal sinus
has exact synonym: malignant tumor of sphenoid sinus
has OBO namespace: disease_ontology
id: DOID:14546
in subset: NCIthesaurus

sphenoid sinus squamous cell carcinoma
type: Class
subclass of: sphenoidal sinus cancer
IAO_0000115: A squamous cell carcinoma that is located_in the sphenoid sinus.
has db xref: NCI:C6066
has db xref: SNOMEDCT_US_2023_03_01:1255660002
has db xref: UMLS_CUI:C1336039
has exact synonym: Epidermoid carcinoma of the Sphenoidal sinus
has OBO namespace: disease_ontology
id: DOID:14547
in subset: NCIthesaurus

Axiom
annotated source: sphenoid sinus squamous cell carcinoma
annotated property: IAO_0000115
annotated target: A squamous cell carcinoma that is located_in the sphenoid sinus.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/25748513

geographic tongue
type: Class
subclass of: glossitis
IAO_0000115: An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface.
has db xref: GARD:6493
has db xref: ICD10CM:K14.1
has db xref: ICD9CM:529.1
has db xref: MESH:D005929
has db xref: MIM:137400
has db xref: NCI:C84588
has db xref: SNOMEDCT_US_2023_03_01:59032001
has db xref: UMLS_CUI:C0017677
has exact synonym: Glossitis areata exfoliativa
has exact synonym: Pityriasis linguae
has exact synonym: benign migratory glossitis
has OBO namespace: disease_ontology
id: DOID:1455
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: geographic tongue
annotated property: IAO_0000115
annotated target: An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Geographic_tongue

glossitis
type: Class
subclass of: tongue disease
has db xref: ICD10CM:K14.0
has db xref: ICD9CM:529.0
has db xref: MESH:D005928
has db xref: NCI:C112199
has db xref: SNOMEDCT_US_2023_03_01:155666003
has db xref: UMLS_CUI:C0017675
has OBO namespace: disease_ontology
id: DOID:1456
in subset: NCIthesaurus

hypothyroidism
type: Class
subclass of: DOID 50
IAO_0000115: A thyroid gland disease which involves an underproduction of thyroid hormone.
has alternative id: DOID:11630
has db xref: EFO:0004705
has db xref: ICD10CM:E03.9
has db xref: ICD9CM:244.9
has db xref: MESH:D007037
has db xref: NCI:C26800
has db xref: SNOMEDCT_US_2023_03_01:267465007
has db xref: UMLS_CUI:C0020676
has exact synonym: Thyroid deficiency
has exact synonym: Thyroid insufficiency
has OBO namespace: disease_ontology
id: DOID:1459
in subset: NCIthesaurus

Axiom
annotated source: hypothyroidism
annotated property: IAO_0000115
annotated target: A thyroid gland disease which involves an underproduction of thyroid hormone.
has db xref: url:https://medlineplus.gov/hypothyroidism.html

papilledema
type: Class
subclass of: optic nerve disease
has db xref: GARD:7318
has db xref: ICD10CM:H47.1
has db xref: ICD9CM:377.0
has db xref: MESH:D010211
has db xref: NCI:C3307
has db xref: SNOMEDCT_US_2023_03_01:423488006
has db xref: UMLS_CUI:C0030353
has OBO namespace: disease_ontology
id: DOID:146
in subset: DO rare slim
in subset: NCIthesaurus

prostatitis
type: Class
subclass of: DOID 47
has db xref: ICD10CM:N41.9
has db xref: ICD9CM:601.9
has db xref: MESH:D011472
has db xref: NCI:C26866
has db xref: SNOMEDCT_US_2023_03_01:155907007
has db xref: UMLS_CUI:C0033581
has OBO namespace: disease_ontology
id: DOID:14654
in subset: NCIthesaurus

Silver-Russell syndrome
type: Class
subclass of: disease
IAO_0000115: A physical disorder that is characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations.
has db xref: GARD:4870
has db xref: ICD10CM:Q87.19
has db xref: MESH:D056730
has db xref: MIM:180860
has db xref: NCI:C85068
has db xref: SNOMEDCT_US_2023_03_01:15069006
has db xref: UMLS_CUI:C0175693
has exact synonym: Silver Russell Dwarfism
has OBO namespace: disease_ontology
id: DOID:14681
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: Silver-Russell syndrome
annotated property: IAO_0000115
annotated target: A physical disorder that is characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations.
has db xref: url:https://ghr.nlm.nih.gov/condition/russell-silver-syndrome
has db xref: url:https://rarediseases.org/rare-diseases/russell-silver-syndrome/

Axenfeld-Rieger syndrome
type: Class
subclass of: DOID 5614
IAO_0000115: An eye disease characterized by anterior segment ocular dysgenesis in addition to systemic abnormalities such as dental, cardiac, craniofacial, and abdominal wall defects.
has db xref: GARD:5701
has db xref: ICD10CM:Q13.81
has db xref: MESH:C535679
has db xref: MIM:PS180500
has db xref: NCI:C131001
has db xref: ORDO:782
has db xref: SNOMEDCT_US_2023_03_01:47507006
has db xref: UMLS_CUI:C0265341
has exact synonym: Anomaly, Rieger's
has exact synonym: Axenfeld syndrome
has exact synonym: RGS - Rieger syndrome
has exact synonym: Rieger's anomaly
has OBO namespace: disease_ontology
has related synonym: Hagedoom syndrome
id: DOID:14686
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Axenfeld-Rieger syndrome
annotated property: IAO_0000115
annotated target: An eye disease characterized by anterior segment ocular dysgenesis in addition to systemic abnormalities such as dental, cardiac, craniofacial, and abdominal wall defects.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Axenfeld_syndrome
has db xref: url:http://ghr.nlm.nih.gov/condition/axenfeld-rieger-syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK538504/

diastrophic dysplasia
type: Class
subclass of: osteochondrodysplasia
IAO_0000115: An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism.
has db xref: GARD:6275
has db xref: ICD10CM:Q77.5
has db xref: MESH:C536170
has db xref: MIM:222600
has db xref: NCI:C156311
has db xref: SNOMEDCT_US_2023_03_01:58561002
has db xref: UMLS_CUI:C0220726
has OBO namespace: disease_ontology
id: DOID:14687
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: diastrophic dysplasia
annotated property: IAO_0000115
annotated target: An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007646
has db xref: url:http://en.wikipedia.org/wiki/Diastrophic_dysplasia
has db xref: url:http://ghr.nlm.nih.gov/condition/diastrophic-dysplasia
has db xref: url:http://www.ncbi.nlm.nih.gov/books/NBK22219/

Smith-Lemli-Opitz syndrome
type: Class
subclass of: DOID 655
has alternative id: DOID:4366
has db xref: GARD:5683
has db xref: ICD10CM:E78.72
has db xref: MESH:D019082
has db xref: MIM:270400
has db xref: NCI:C85071
has db xref: SNOMEDCT_US_2023_03_01:43929004
has db xref: UMLS_CUI:C0175694
has exact synonym: Rutledge lethal multiple congenital anomaly syndrome
has exact synonym: Smith-Opitz-Inborn syndrome
has OBO namespace: disease_ontology
id: DOID:14692
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

galactokinase deficiency
type: Class
subclass of: DOID 9870
IAO_0000115: A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.
has db xref: GARD:2422
has db xref: ICD10CM:E74.29
has db xref: MESH:D005693
has db xref: MIM:230200
has db xref: NCI:C114767
has db xref: SNOMEDCT_US_2023_03_01:124302001
has db xref: UMLS_CUI:C0268155
has exact synonym: Galactosemia II
has OBO namespace: disease_ontology
id: DOID:14695
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: galactokinase deficiency
annotated property: IAO_0000115
annotated target: A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Galactokinase_deficiency

thrombocytopenia-absent radius syndrome
type: Class
subclass of: DOID 630
IAO_0000115: A chromosomal deletion syndrome that is characterized by absence of the radius bone and platelet deficiency and bilateral absence of the radii with the presence of both thumbs and generally transient thrombocytopenia (less than 50 platelets/nL) and that has_material_basis_in compound heterozygosity for a rare null mutation involving the RBM8A gene on chromosome 1q12 on 1 allele and 1 of 2 low-frequency noncoding single-nucleotide polymorphisms in RBM8A on the other.
has db xref: ICD10CM:Q87.2
has db xref: MESH:C536940
has db xref: MIM:274000
has db xref: NCI:C99038
has db xref: ORDO:3320
has db xref: SNOMEDCT_US_2023_03_01:85589009
has db xref: UMLS_CUI:C0175703
has exact synonym: Radial aplasia-thrombocytopenia syndrome
has exact synonym: Thrombocytopenia with absent radii (TAR) syndrome
has OBO namespace: disease_ontology
id: DOID:14699
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: thrombocytopenia-absent radius syndrome
annotated property: IAO_0000115
annotated target: A chromosomal deletion syndrome that is characterized by absence of the radius bone and platelet deficiency and bilateral absence of the radii with the presence of both thumbs and generally transient thrombocytopenia (less than 50 platelets/nL) and that has_material_basis_in compound heterozygosity for a rare null mutation involving the RBM8A gene on chromosome 1q12 on 1 allele and 1 of 2 low-frequency noncoding single-nucleotide polymorphisms in RBM8A on the other.
has db xref: url:https://ghr.nlm.nih.gov/condition/thrombocytopenia-absent-radius-syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK23758/

major depressive disorder
type: Class
subclass of: depressive disorder
IAO_0000115: A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.
has alternative id: DOID:10614
has alternative id: DOID:2240
has alternative id: DOID:2241
has alternative id: DOID:7580
has db xref: ICD10CM:F32
has db xref: ICD10CM:F33.9
has db xref: ICD9CM:296.2
has db xref: ICD9CM:296.3
has db xref: MIM:608516
has db xref: MIM:608520
has db xref: MIM:608691
has db xref: NCI:C34796
has db xref: SNOMEDCT_US_2023_03_01:268621008
has db xref: SNOMEDCT_US_2023_03_01:36923009
has db xref: UMLS_CUI:C0024517
has db xref: UMLS_CUI:C0154409
has exact synonym: clinical depression
has exact synonym: major depression
has exact synonym: recurrent major depression
has exact synonym: single major depressive episode
has exact synonym: unipolar depression
has OBO namespace: disease_ontology
id: DOID:1470
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: major depressive disorder
annotated property: IAO_0000115
annotated target: A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/Major_depressive_disorder
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/30333763

propionic acidemia
type: Class
subclass of: DOID 9252
IAO_0000115: An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of amino acids and fats into sugar for energy.
has alternative id: DOID:14706
has db xref: GARD:467
has db xref: ICD10CM:E71.121
has db xref: MESH:D056693
has db xref: MIM:606054
has db xref: NCI:C85030
has db xref: SNOMEDCT_US_2023_03_01:69080001
has db xref: UMLS_CUI:C0268579
has db xref: UMLS_CUI:C2717876
has exact synonym: GLYCINEMIA, KETOTIC
has exact synonym: KETOTIC HYPERGLYCINEMIA
has exact synonym: ketotic II glycinemia
has exact synonym: ketotic glycinemia
has exact synonym: propionic aciduria
has exact synonym: propionyl-CoA carboxylase deficiency
has OBO namespace: disease_ontology
id: DOID:14701
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: propionic acidemia
annotated property: IAO_0000115
annotated target: An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of amino acids and fats into sugar for energy.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Propionic_acidemia

branchiootorenal syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities.
has db xref: GARD:10147
has db xref: MEDDRA:10071135
has db xref: MESH:D019280
has db xref: NCI:C98983
has db xref: SNOMEDCT_US_2023_03_01:290006
has db xref: UMLS_CUI:C0265234
has exact synonym: Branchio-Oto-renal syndrome
has exact synonym: Branchio-otorenal dysplasia
has exact synonym: Melnick-Fraser syndrome
has exact synonym: branchiootorenal dysplasia
has OBO namespace: disease_ontology
id: DOID:14702
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: branchiootorenal syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/263442

Pfeiffer syndrome
type: Class
subclass of: acrocephalosyndactylia
IAO_0000115: An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull.
has db xref: GARD:7380
has db xref: MESH:D000168
has db xref: MIM:101600
has db xref: NCI:C99100
has db xref: ORDO:710
has db xref: SNOMEDCT_US_2023_03_01:70410008
has db xref: UMLS_CUI:C0220658
has exact synonym: acrocephalosyndactylia type V
has OBO namespace: disease_ontology
id: DOID:14705
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Pfeiffer syndrome
annotated property: IAO_0000115
annotated target: An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Pfeiffer_syndrome
has db xref: url:http://ghr.nlm.nih.gov/condition/pfeiffer-syndrome
has db xref: url:http://www.healthline.com/galecontent/pfeiffer-syndrome
has db xref: url:https://www.faces-cranio.org/pfeiffer

centronuclear myopathy
type: Class
subclass of: congenital structural myopathy
IAO_0000115: A congenital structural myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery.
has db xref: GARD:101
has db xref: ICD10CM:G71.22
has db xref: MESH:D020914
has db xref: NCI:C84648
has db xref: ORDO:595
has db xref: ORDO:596
has db xref: ORDO:69186
has db xref: ORDO:69189
has db xref: SNOMEDCT_US_2023_03_01:193223007
has db xref: UMLS_CUI:C0175709
has exact synonym: myotubular myopathy
has OBO namespace: disease_ontology
id: DOID:14717
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: centronuclear myopathy
annotated property: IAO_0000115
annotated target: A congenital structural myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Centronuclear_myopathy
has db xref: url:http://ghr.nlm.nih.gov/condition/centronuclear-myopathy

Ehlers-Danlos syndrome classic type 1
type: Class
subclass of: Ehlers-Danlos syndrome
IAO_0000115: An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34.
has db xref: MESH:C536194
has db xref: MIM:130000
has db xref: NCI:C125696
has db xref: SNOMEDCT_US_2023_03_01:83470009
has db xref: UMLS_CUI:C0268335
has exact synonym: Ehlers-Danlos syndrome, type 1
has exact synonym: type I Ehlers-Danlos syndrome
has OBO namespace: disease_ontology
id: DOID:14720
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: Ehlers-Danlos syndrome classic type 1
annotated property: IAO_0000115
annotated target: An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/28306229/

hereditary angioedema
type: Class
subclass of: angioedema
IAO_0000115: An angioedema that is characterized by recurrent episodes of severe swelling of the skin and mucous membranes.
has db xref: GARD:5979
has db xref: MESH:D054179
has db xref: MIM:PS106100
has db xref: NCI:C84758
has db xref: ORDO:91378
has db xref: SNOMEDCT_US_2023_03_01:82966003
has db xref: UMLS_CUI:C0019243
has exact synonym: HANE
has exact synonym: Hereditary angioneurotic edema
has OBO namespace: disease_ontology
id: DOID:14735
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: hereditary angioedema
annotated property: IAO_0000115
annotated target: An angioedema that is characterized by recurrent episodes of severe swelling of the skin and mucous membranes.
has db xref: url:https://medlineplus.gov/genetics/condition/hereditary-angioedema/

Axiom
annotated source: hereditary angioedema
annotated property: hasExactSynonym
annotated target: HANE
has synonym type: OMO_0003012

trichorhinophalangeal syndrome type I
type: Class
subclass of: syndrome
IAO_0000115: A syndrome that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly).
has alternative id: DOID:0050552
has db xref: GARD:7802
has db xref: MESH:C536820
has db xref: MIM:190350
has db xref: NCI:C75109
has db xref: ORDO:77258
has db xref: SNOMEDCT_US_2023_03_01:239016009
has db xref: UMLS_CUI:C0432233
has exact synonym: trichorhinophalangeal syndrome type 1
has exact synonym: type I trichorhinophalangeal syndrome
has OBO namespace: disease_ontology
has related synonym: Trichorhinophalangeal dysplasia type I
id: DOID:14743
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: trichorhinophalangeal syndrome type I
annotated property: IAO_0000115
annotated target: A syndrome that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly).
type: ECO_0007640
has db xref: url:https://medlineplus.gov/genetics/condition/trichorhinophalangeal-syndrome-type-i/

Sotos syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life.
has db xref: GARD:10091
has db xref: ICD10CM:Q87.3
has db xref: MESH:D058495
has db xref: MIM:PS117550
has db xref: NCI:C75019
has db xref: ORDO:821
has db xref: SNOMEDCT_US_2023_03_01:75968004
has db xref: UMLS_CUI:C0175695
has exact synonym: cerebral gigantism
has OBO namespace: disease_ontology
id: DOID:14748
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: Sotos syndrome
annotated property: IAO_0000115
annotated target: A syndrome that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Cerebral_gigantism
has db xref: url:https://research.nhgri.nih.gov/atlas/condition/sotos-syndrome

lymphangioma
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A benign vascular tumor that is composed of dilated lymphatic channels.
has db xref: GARD:9789
has db xref: ICD10CM:D18.1
has db xref: ICD9CM:228.1
has db xref: ICDO:9170/0
has db xref: MESH:D008202
has db xref: NCI:C8965
has db xref: SNOMEDCT_US_2023_03_01:154625006
has db xref: UMLS_CUI:C0024221
has exact synonym: Congenital lymphangioma
has exact synonym: benign lymphangioma
has OBO namespace: disease_ontology
id: DOID:1475
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: lymphangioma
annotated property: IAO_0000115
annotated target: A benign vascular tumor that is composed of dilated lymphatic channels.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Lymphangioma

isovaleric acidemia
type: Class
subclass of: DOID 9252
IAO_0000115: An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine.
has db xref: GARD:465
has db xref: ICD10CM:E71.110
has db xref: MESH:C538167
has db xref: MIM:243500
has db xref: NCI:C98964
has db xref: SNOMEDCT_US_2023_03_01:87827003
has db xref: UMLS_CUI:C0268575
has exact synonym: Isovaleryl-CoA dehydrogenase deficiency
has exact synonym: isovaleric acid CoA dehydrogenase deficiency
has exact synonym: isovaleric aciduria
has OBO namespace: disease_ontology
id: DOID:14753
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: isovaleric acidemia
annotated property: IAO_0000115
annotated target: An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Isovaleric_acidemia

argininosuccinic aciduria
type: Class
subclass of: DOID 9252
IAO_0000115: An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine.
has db xref: GARD:5843
has db xref: MESH:D056807
has db xref: MIM:207900
has db xref: NCI:C84569
has db xref: SNOMEDCT_US_2023_03_01:41013004
has db xref: UMLS_CUI:C0268547
has exact synonym: Argininosuccinate lyase deficiency
has exact synonym: argininosuccinic acidemia
has exact synonym: arginosuccinase deficiency
has exact synonym: deficiency of argininosuccinate lyase
has OBO namespace: disease_ontology
id: DOID:14755
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: argininosuccinic aciduria
annotated property: IAO_0000115
annotated target: An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Argininosuccinic_aciduria

vascular type Ehlers-Danlos syndrome
type: Class
subclass of: Ehlers-Danlos syndrome
IAO_0000115: An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL3A1 gene on chromosome 2q32 and that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits.
has db xref: GARD:2082
has db xref: MIM:130050
has db xref: NCI:C125699
has db xref: ORDO:286
has exact synonym: Ehlers-Danlos syndrome type 4
has exact synonym: Ehlers-Danlos syndrome type IV
has exact synonym: autosomal dominant type IV Ehlers-Danlos syndrome
has OBO namespace: disease_ontology
id: DOID:14756
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: vascular type Ehlers-Danlos syndrome
annotated property: IAO_0000115
annotated target: An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL3A1 gene on chromosome 2q32 and that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/21637106/

Ehlers-Danlos syndrome hypermobility type
type: Class
subclass of: Ehlers-Danlos syndrome
IAO_0000115: An Ehlers-Danlos syndrome that is characterized by joint hyperextensibility without skeletal deformity.
has db xref: GARD:2081
has db xref: ICD10CM:Q79.62
has db xref: MESH:C536196
has db xref: MIM:130020
has db xref: NCI:C125698
has db xref: SNOMEDCT_US_2023_03_01:30652003
has db xref: UMLS_CUI:C0268337
has exact synonym: Ehlers-Danlos syndrome, type 3
has exact synonym: type III Ehlers-Danlos syndrome
has OBO namespace: disease_ontology
id: DOID:14757
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: Ehlers-Danlos syndrome hypermobility type
annotated property: IAO_0000115
annotated target: An Ehlers-Danlos syndrome that is characterized by joint hyperextensibility without skeletal deformity.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/28306229/

Greig cephalopolysyndactyly syndrome
type: Class
subclass of: acrocephalosyndactylia
IAO_0000115: An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face.
has alternative id: DOID:9251
has db xref: GARD:6550
has db xref: MESH:C537300
has db xref: MIM:175700
has db xref: NCI:C35255
has db xref: SNOMEDCT_US_2023_03_01:32985001
has db xref: UMLS_CUI:C0265306
has exact synonym: polysyndactyly with peculiars skull shape
has OBO namespace: disease_ontology
id: DOID:14761
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Greig cephalopolysyndactyly syndrome
annotated property: IAO_0000115
annotated target: An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Greig_cephalopolysyndactyly_syndrome
has db xref: url:http://ghr.nlm.nih.gov/condition/greig-cephalopolysyndactyly-syndrome

Saethre-Chotzen syndrome
type: Class
subclass of: acrocephalosyndactylia
IAO_0000115: An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull.
has db xref: GARD:7598
has db xref: MESH:D000168
has db xref: MIM:101400
has db xref: MIM:180750
has db xref: NCI:C75034
has db xref: ORDO:794
has db xref: SNOMEDCT_US_2023_03_01:390726000
has db xref: UMLS_CUI:C0175699
has OBO namespace: disease_ontology
has related synonym: acrocephalosyndactyly type III
id: DOID:14768
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Saethre-Chotzen syndrome
annotated property: IAO_0000115
annotated target: An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://children.webmd.com/saethre-chotzen-syndrome
has db xref: url:http://en.wikipedia.org/wiki/Saethre-Chotzen_syndrome
has db xref: url:http://ghr.nlm.nih.gov/condition/saethre-chotzen-syndrome
has db xref: url:http://www.healthline.com/galecontent/saethre-chotzen-syndrome
has db xref: url:https://www.faces-cranio.org/saethre-chotzen

cartilage-hair hypoplasia
type: Class
subclass of: ectodermal dysplasia
IAO_0000115: An ectodermal dysplasia characterized by short-limbed short stature and fine, sparse hair that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13.3.
has alternative id: DOID:0080022
has db xref: MESH:C535916
has db xref: MIM:250250
has db xref: NCI:C61245
has db xref: SNOMEDCT_US_2023_03_01:234421004
has db xref: UMLS_CUI:C0220748
has exact synonym: CHH
has exact synonym: McKusick type metaphyseal chondrodysplasia
has exact synonym: Metaphyseal chondrodysplasia, McKusick type
has OBO namespace: disease_ontology
id: DOID:14773
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: cartilage-hair hypoplasia
annotated property: IAO_0000115
annotated target: An ectodermal dysplasia characterized by short-limbed short stature and fine, sparse hair that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13.3.
type: ECO_0007636
type: ECO_0007645
has db xref: url:https://ghr.nlm.nih.gov/condition/cartilage-hair-hypoplasia
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/11207361

Axiom
annotated source: cartilage-hair hypoplasia
annotated property: hasExactSynonym
annotated target: CHH
has synonym type: OMO_0003012

brittle cornea syndrome 1
type: Class
subclass of: Ehlers-Danlos syndrome
IAO_0000115: An Ehlers-Danlos syndrome that is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints and has_material_basis_in homozygous mutation in the ZNF469 gene on chromosome 16q24.
has db xref: GARD:1019
has db xref: MESH:C536198
has db xref: MIM:229200
has db xref: NCI:C125700
has db xref: SNOMEDCT_US_2023_03_01:25606004
has db xref: UMLS_CUI:C0268342
has exact synonym: type VIB Ehlers-Danlos syndrome
has OBO namespace: disease_ontology
id: DOID:14775
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: brittle cornea syndrome 1
annotated property: IAO_0000115
annotated target: An Ehlers-Danlos syndrome that is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints and has_material_basis_in homozygous mutation in the ZNF469 gene on chromosome 16q24.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/28306229/

olivopontocerebellar atrophy
type: Class
subclass of: neurodegenerative disease
IAO_0000115: A neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives.
has alternative id: DOID:12708
has db xref: MESH:D009849
has db xref: NCI:C84947
has db xref: SNOMEDCT_US_2023_03_01:67761004
has db xref: UMLS_CUI:C0028968
has exact synonym: Dejerine-Thomas syndrome
has exact synonym: Thomas' syndrome
has exact synonym: WADIA-SWAMI SYNDROME
has OBO namespace: disease_ontology
id: DOID:14784
in subset: DO FlyBase slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: olivopontocerebellar atrophy
annotated property: IAO_0000115
annotated target: A neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives.
type: ECO_0007637
has db xref: url:http://www.ninds.nih.gov/disorders/opca/opca.htm

Leber congenital amaurosis
type: Class
subclass of: DOID 5679
IAO_0000115: A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.
has db xref: GARD:634
has db xref: MESH:D057130
has db xref: MIM:PS204000
has db xref: NCI:C129075
has db xref: ORDO:65
has db xref: SNOMEDCT_US_2023_03_01:193413001
has db xref: UMLS_CUI:C0339527
has exact synonym: LCA
has exact synonym: Leber's amaurosis
has exact synonym: Leber's congenital amaurosis
has exact synonym: Leber's disease
has OBO namespace: disease_ontology
id: DOID:14791
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Leber congenital amaurosis
annotated property: IAO_0000115
annotated target: A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Leber%27s_congenital_amaurosis

Axiom
annotated source: Leber congenital amaurosis
annotated property: hasExactSynonym
annotated target: LCA
has synonym type: OMO_0003012

hypohidrotic ectodermal dysplasia
type: Class
subclass of: ectodermal dysplasia
IAO_0000115: An ectodermal dysplasia that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth).
has alternative id: DOID:0050446
has alternative id: DOID:0050447
has db xref: GARD:76
has db xref: MESH:D053358
has db xref: NCI:C84562
has db xref: ORDO:238468
has db xref: SNOMEDCT_US_2023_03_01:239007005
has db xref: UMLS_CUI:C0162359
has OBO namespace: disease_ontology
id: DOID:14793
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: hypohidrotic ectodermal dysplasia
annotated property: IAO_0000115
annotated target: An ectodermal dysplasia that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth).
type: ECO_0007636
type: ECO_0007637
type: ECO_0007646
has db xref: url:http://ghr.nlm.nih.gov/condition/hypohidrotic-ectodermal-dysplasia
has db xref: url:http://www.ncbi.nlm.nih.gov/books/NBK1112/
has db xref: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=238468

Dubowitz syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome that is characterized by microcephaly, growth retardation and a characteristic facial appearance including but not limited to narrow or triangular shaped head, micrognathia, ptosis, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids.
has db xref: GARD:6290
has db xref: ICD10CM:Q87.19
has db xref: MEDDRA:10059589
has db xref: MESH:C535718
has db xref: MIM:223370
has db xref: NCI:C125591
has db xref: SNOMEDCT_US_2023_03_01:2593002
has db xref: UMLS_CUI:C0175691
has exact synonym: Dubowitz's syndrome
has OBO namespace: disease_ontology
id: DOID:14796
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Dubowitz syndrome
annotated property: IAO_0000115
annotated target: A syndrome that is characterized by microcephaly, growth retardation and a characteristic facial appearance including but not limited to narrow or triangular shaped head, micrognathia, ptosis, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Dubowitz_syndrome

gingival disease
type: Class
subclass of: periodontal disease
IAO_0000115: A periodontal disease that is located_in the gums.
has db xref: MESH:D005882
has db xref: NCI:C173795
has db xref: SNOMEDCT_US_2023_03_01:18718003
has db xref: UMLS_CUI:C0017563
has exact synonym: gum disease
has OBO namespace: disease_ontology
id: DOID:1483
in subset: NCIthesaurus

Axiom
annotated source: gingival disease
annotated property: IAO_0000115
annotated target: A periodontal disease that is located_in the gums.
has db xref: url:https://www.nidcr.nih.gov/health-info/gum-disease/more-info

cystic fibrosis
type: Class
subclass of: syndrome
IAO_0000115: A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.
has alternative id: DOID:12447
has alternative id: DOID:13383
has alternative id: DOID:14395
has alternative id: DOID:1484
has db xref: GARD:6233
has db xref: ICD10CM:E84
has db xref: ICD9CM:277.0
has db xref: MESH:D003550
has db xref: MIM:219700
has db xref: NCI:C2975
has db xref: ORDO:586
has db xref: SNOMEDCT_US_2023_03_01:85809002
has db xref: UMLS_CUI:C0010674
has exact synonym: CF
has exact synonym: mucoviscidosis
has OBO namespace: disease_ontology
id: DOID:1485
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: cystic fibrosis
annotated property: IAO_0000115
annotated target: A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Cystic_fibrosis
has db xref: url:http://ghr.nlm.nih.gov/condition/cystic-fibrosis
has db xref: url:http://www.nhlbi.nih.gov/health/health-topics/topics/cf/
has db xref: url:https://www.genome.gov/Genetic-Disorders/Cystic-Fibrosis

Axiom
annotated source: cystic fibrosis
annotated property: hasExactSynonym
annotated target: CF
has synonym type: OMO_0003012

echinococcosis
type: Class
subclass of: DOID 883
IAO_0000115: A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys.
has alternative id: DOID:12149
has alternative id: DOID:2783
has db xref: ICD10CM:B67
has db xref: ICD9CM:122
has db xref: MESH:D004443
has db xref: NCI:C84682
has db xref: SNOMEDCT_US_2023_03_01:154414008
has db xref: UMLS_CUI:C0013502
has exact synonym: Echinococcosis of liver
has exact synonym: echinococcal disease
has exact synonym: hepatic echinococcosis
has exact synonym: hydatid disease
has exact synonym: hydatidosis
has exact synonym: liver echinococcus
has exact synonym: pulmonary echinococcosis
has OBO namespace: disease_ontology
id: DOID:1496
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: echinococcosis
annotated property: IAO_0000115
annotated target: A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys.
type: ECO_0007638
type: ECO_0007643
has db xref: url:http://en.wikipedia.org/wiki/Echinococcosis
has db xref: url:https://www.merriam-webster.com/dictionary/echinococcosis#medicalDictionary

reproductive system disease
type: Class
subclass of: disease
IAO_0000115: A disease of anatomical entity that is located_in reproductive system organs.
has alternative id: DOID:6309
has db xref: NCI:C27613
has db xref: UMLS_CUI:C1335037
has exact synonym: genital system disease
has OBO namespace: disease_ontology
id: DOID:15
in subset: DO AGR slim
in subset: DO CFDE slim
in subset: DO GXD slim
in subset: DO MGI slim
in subset: NCIthesaurus

Axiom
annotated source: reproductive system disease
annotated property: IAO_0000115
annotated target: A disease of anatomical entity that is located_in reproductive system organs.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Reproductive_system

disease of mental health
type: Class
subclass of: disease
IAO_0000115: A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture.
has db xref: ICD10CM:F99
has db xref: MESH:D001523
has db xref: NCI:C2893
has db xref: SNOMEDCT_US_2023_03_01:74732009
has db xref: UMLS_CUI:C0004936
has OBO namespace: disease_ontology
id: DOID:150
in subset: DO AGR slim
in subset: DO CFDE slim
in subset: DO GXD slim
in subset: DO MGI slim
in subset: DO RAD slim
in subset: NCIthesaurus

Axiom
annotated source: disease of mental health
annotated property: IAO_0000115
annotated target: A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Mental_disorder

candidiasis
type: Class
subclass of: fungal infectious disease
IAO_0000115: An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons.
has alternative id: DOID:1507
has db xref: ICD10CM:B37
has db xref: ICD9CM:112
has db xref: MESH:D002177
has db xref: NCI:C26711
has db xref: SNOMEDCT_US_2023_03_01:154403005
has db xref: UMLS_CUI:C0006840
has exact synonym: Disseminated candidiasis
has exact synonym: systemic candidiasis
has OBO namespace: disease_ontology
id: DOID:1508
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: candidiasis
annotated property: IAO_0000115
annotated target: An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Candidiasis

avoidant personality disorder
type: Class
subclass of: disease of mental health
IAO_0000115: A personality disorder that is characterized by a pervasive pattern of social inhibition, feelings of inadequacy, extreme sensitivity to negative evaluation, and avoidance of social interaction.
has db xref: ICD10CM:F60.6
has db xref: ICD9CM:301.82
has db xref: MESH:D010554
has db xref: NCI:C92636
has db xref: SNOMEDCT_US_2023_03_01:191771004
has db xref: UMLS_CUI:C0004444
has exact synonym: anxious personality disorder
has OBO namespace: disease_ontology
id: DOID:1509
in subset: NCIthesaurus

Axiom
annotated source: avoidant personality disorder
annotated property: IAO_0000115
annotated target: A personality disorder that is characterized by a pervasive pattern of social inhibition, feelings of inadequacy, extreme sensitivity to negative evaluation, and avoidance of social interaction.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Avoidant_personality_disorder

chronic cervicitis
type: Class
subclass of: cervicitis
IAO_0000115: A cervicitis that is present for weeks or more.
has db xref: NCI:C27057
has db xref: SNOMEDCT_US_2023_03_01:198210003
has db xref: UMLS_CUI:C0269062
has OBO namespace: disease_ontology
id: DOID:1513
in subset: NCIthesaurus

Axiom
annotated source: chronic cervicitis
annotated property: IAO_0000115
annotated target: A cervicitis that is present for weeks or more.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/27243142

cecal benign neoplasm
type: Class
subclass of: DOID 4610
IAO_0000115: An intestinal benign neoplasm that is located_in the cecum.
has db xref: MESH:D002430
has db xref: NCI:C4433
has db xref: SNOMEDCT_US_2023_03_01:126839008
has db xref: UMLS_CUI:C0007528
has exact synonym: cecum neoplasm
has exact synonym: neoplasm of caecum
has OBO namespace: disease_ontology
id: DOID:1517
in subset: NCIthesaurus

Axiom
annotated source: cecal benign neoplasm
annotated property: IAO_0000115
annotated target: An intestinal benign neoplasm that is located_in the cecum.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Cecum

cecum carcinoma
type: Class
subclass of: cecum cancer
IAO_0000115: A cecum cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
has db xref: NCI:C3491
has db xref: SNOMEDCT_US_2023_03_01:269538009
has db xref: UMLS_CUI:C0149640
has exact synonym: Caecum carcinoma
has exact synonym: Cecal cancer
has exact synonym: carcinoma of cecum
has OBO namespace: disease_ontology
id: DOID:1519
in subset: NCIthesaurus

Axiom
annotated source: cecum carcinoma
annotated property: IAO_0000115
annotated target: A cecum cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Carcinoma

colon carcinoma
type: Class
subclass of: colon cancer
IAO_0000115: A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
has db xref: NCI:C4910
has db xref: SNOMEDCT_US_2023_03_01:154454005
has db xref: UMLS_CUI:C0699790
has exact synonym: Colonic carcinoma
has exact synonym: carcinoma of colon
has OBO namespace: disease_ontology
id: DOID:1520
in subset: DO cancer slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: colon carcinoma
annotated property: IAO_0000115
annotated target: A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Carcinoma

cecum cancer
type: Class
subclass of: DOID 5672
IAO_0000115: A large intestine cancer that is located_in the cecum.
has db xref: ICD10CM:C18.0
has db xref: ICD9CM:153.4
has db xref: MESH:D002430
has db xref: NCI:C9329
has db xref: SNOMEDCT_US_2023_03_01:93736007
has db xref: UMLS_CUI:C0153437
has exact synonym: malignant neoplasm of caecum
has exact synonym: malignant tumor of the cecum
has OBO namespace: disease_ontology
id: DOID:1521
in subset: NCIthesaurus

Axiom
annotated source: cecum cancer
annotated property: IAO_0000115
annotated target: A large intestine cancer that is located_in the cecum.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Cecum

cecum lymphoma
type: Class
subclass of: cecum cancer
has db xref: NCI:C5515
has db xref: UMLS_CUI:C1332867
has exact synonym: Cecal Lymphoma
has OBO namespace: disease_ontology
id: DOID:1522
in subset: NCIthesaurus

colon lymphoma
type: Class
subclass of: colon cancer
has db xref: NCI:C4793
has db xref: SNOMEDCT_US_2023_03_01:133751000119102
has db xref: UMLS_CUI:C0519037
has exact synonym: Colonic Lymphoma
has OBO namespace: disease_ontology
id: DOID:1523
in subset: NCIthesaurus

panniculitis
type: Class
subclass of: skin disease
IAO_0000115: A skin disease that is characterized by inflammation of subcutaneous adipose tissue.
has db xref: ICD10CM:M79.3
has db xref: ICD9CM:729.30
has db xref: MESH:D015434
has db xref: NCI:C112112
has db xref: SNOMEDCT_US_2023_03_01:268122002
has db xref: UMLS_CUI:C0030326
has OBO namespace: disease_ontology
id: DOID:1526
in subset: NCIthesaurus

Axiom
annotated source: panniculitis
annotated property: IAO_0000115
annotated target: A skin disease that is characterized by inflammation of subcutaneous adipose tissue.
has db xref: url:https://en.wikipedia.org/wiki/Panniculitis

pleural disease
type: Class
subclass of: disease
IAO_0000115: A thoracic disease which may involve inflammation of pleura, collection of air within the pleural cavity, abnormal collection of pleural fluid, abnormal growths on the pleura (pleural tumor) and pleural plaques. The main causes of pleural diseases including pleural effusions are congestive heart failure, malignancy, parapneumonic infections and pulmonary embolism.
has alternative id: DOID:1531
has db xref: MESH:D010995
has db xref: NCI:C26859
has db xref: SNOMEDCT_US_2023_03_01:88075009
has db xref: UMLS_CUI:C0032226
has exact synonym: disorder of pleura
has exact synonym: non-neoplastic pleural disease
has OBO namespace: disease_ontology
id: DOID:1532
in subset: DO RAD slim
in subset: NCIthesaurus

Axiom
annotated source: pleural disease
annotated property: IAO_0000115
annotated target: A thoracic disease which may involve inflammation of pleura, collection of air within the pleural cavity, abnormal collection of pleural fluid, abnormal growths on the pleura (pleural tumor) and pleural plaques. The main causes of pleural diseases including pleural effusions are congestive heart failure, malignancy, parapneumonic infections and pulmonary embolism.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Pleural_disease

mixed cell type cancer
type: Class
subclass of: cancer
IAO_0000115: A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from two germinal layers of tissue.
has alternative id: DOID:1905
has db xref: MESH:D018198
has db xref: NCI:C3729
has db xref: NCI:C6930
has db xref: SNOMEDCT_US_2023_03_01:8145008
has db xref: UMLS_CUI:C0206625
has db xref: UMLS_CUI:C1368354
has exact synonym: malignant mixed cancer
has exact synonym: malignant mixed neoplasm
has exact synonym: mixed tumor
has exact synonym: mixed tumor, malignant
has OBO namespace: disease_ontology
has related synonym: malignant mixed tumor
has related synonym: mixed neoplasm
id: DOID:154
in subset: NCIthesaurus

Axiom
annotated source: mixed cell type cancer
annotated property: IAO_0000115
annotated target: A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from two germinal layers of tissue.
type: ECO_0007641
has db xref: url:http://medical-dictionary.thefreedictionary.com/mixed+neoplasm

parathyroid carcinoma
type: Class
subclass of: endocrine gland cancer
IAO_0000115: An endocrine gland cancer located_in the parathyroid glands located in the neck.
has alternative id: DOID:11006
has alternative id: DOID:1541
has db xref: GARD:7329
has db xref: ICD10CM:C75.0
has db xref: ICD9CM:194.1
has db xref: MESH:D010282
has db xref: MIM:608266
has db xref: NCI:C3313
has db xref: NCI:C4906
has db xref: NCI:C9322
has db xref: SNOMEDCT_US_2023_03_01:127020005
has db xref: SNOMEDCT_US_2023_03_01:255037004
has db xref: SNOMEDCT_US_2023_03_01:363481002
has db xref: UMLS_CUI:C0030521
has db xref: UMLS_CUI:C0153653
has db xref: UMLS_CUI:C0687150
has exact synonym: Parathyroid gland neoplasm
has exact synonym: carcinoma of Parathyroid gland
has exact synonym: malignant neoplasm of parathyroid gland
has exact synonym: malignant neoplasm of the Parathyroid
has exact synonym: malignant tumor of parathyroid gland
has exact synonym: neoplasm of parathyroid gland
has exact synonym: parathyroid gland cancer
has exact synonym: parathyroid neoplasm
has OBO namespace: disease_ontology
has related synonym: parathyroid gland adenocarcinoma
id: DOID:1540
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: parathyroid carcinoma
annotated property: IAO_0000115
annotated target: An endocrine gland cancer located_in the parathyroid glands located in the neck.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Parathyroid_gland

head and neck carcinoma
type: Class
subclass of: head and neck cancer
IAO_0000115: A head and neck cancer that has_material_basis_in epithelial cells and is located in the upper aerodigestive tract, including the lip, oral cavity (mouth), nasal cavity, paranasal sinuses, pharynx, and larynx.
has db xref: NCI:C6077
has db xref: UMLS_CUI:C1334927
has exact synonym: carcinoma of the neck
has OBO namespace: disease_ontology
has related synonym: carcinoma of neck
id: DOID:1542
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: head and neck carcinoma
annotated property: IAO_0000115
annotated target: A head and neck cancer that has_material_basis_in epithelial cells and is located in the upper aerodigestive tract, including the lip, oral cavity (mouth), nasal cavity, paranasal sinuses, pharynx, and larynx.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Head_and_neck_cancer
has db xref: url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.09e&code=C35850&ns=NCI_Thesaurus&key=153772862&b=1&n=null
has db xref: url:http://www.cancer.gov/cancertopics/factsheet/Sites-Types/head-and-neck

arthus reaction
type: Class
subclass of: disease
IAO_0000115: A hypersensitivity reaction type III disease that is characterized by local vasculitis, has_symptom pain, edema, hemorrhage, or necrosis, and has_material_basis_in deposition of antigen-antibody immune complexes in vascular or serosal walls.
has db xref: ICD10CM:T78.41
has db xref: ICD9CM:995.21
has db xref: MESH:D001183
has db xref: NCI:C34400
has db xref: SNOMEDCT_US_2023_03_01:402413008
has db xref: UMLS_CUI:C0003907
has exact synonym: Arthus phenomenon
has exact synonym: Arthus type urticaria
has OBO namespace: disease_ontology
id: DOID:1556
in subset: NCIthesaurus

Axiom
annotated source: arthus reaction
annotated property: IAO_0000115
annotated target: A hypersensitivity reaction type III disease that is characterized by local vasculitis, has_symptom pain, edema, hemorrhage, or necrosis, and has_material_basis_in deposition of antigen-antibody immune complexes in vascular or serosal walls.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Arthus_reaction

angioedema
type: Class
subclass of: skin disease
IAO_0000115: A skin disease characterized by one or more areas of well-demarcated, non-pitting edema of deep subcutaneous tissues.
has db xref: ICD10CM:T78.3
has db xref: MESH:D000799
has db xref: NCI:C112175
has db xref: SNOMEDCT_US_2023_03_01:41291007
has db xref: UMLS_CUI:C0002994
has exact synonym: Angioneurotic oedema
has exact synonym: Quincke's edema
has exact synonym: angioneurotic edema
has exact synonym: giant urticaria
has OBO namespace: disease_ontology
id: DOID:1558
in subset: NCIthesaurus

Axiom
annotated source: angioedema
annotated property: IAO_0000115
annotated target: A skin disease characterized by one or more areas of well-demarcated, non-pitting edema of deep subcutaneous tissues.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Angioedema
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK430889/

cognitive disorder
type: Class
subclass of: disease of mental health
IAO_0000115: A disease of mental health that affects cognitive functions including memory processing, perception and problem solving.
has db xref: ICD10CM:F09
has db xref: MESH:D019965
has db xref: NCI:C34870
has db xref: SNOMEDCT_US_2023_03_01:111479008
has db xref: UMLS_CUI:C0029227
has exact synonym: cognitive disease
has OBO namespace: disease_ontology
has related synonym: Organic Mental disorder
id: DOID:1561
in subset: DO RAD slim
in subset: NCIthesaurus

Axiom
annotated source: cognitive disorder
annotated property: IAO_0000115
annotated target: A disease of mental health that affects cognitive functions including memory processing, perception and problem solving.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Cognitive_disorder

fungal infectious disease
type: Class
subclass of: disease
IAO_0000115: A disease by infectious agent that results_in infection, has_material_basis_in Fungi, which pass the resistance barriers of the human or animal body.
has db xref: ICD10CM:B49
has db xref: ICD9CM:110-118.99
has db xref: MESH:D009181
has db xref: NCI:C3245
has db xref: SNOMEDCT_US_2023_03_01:154393000
has db xref: UMLS_CUI:C0026946
has exact synonym: mycosis
has OBO namespace: disease_ontology
has related synonym: mycoses
id: DOID:1564
in subset: DO AGR slim
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: fungal infectious disease
annotated property: IAO_0000115
annotated target: A disease by infectious agent that results_in infection, has_material_basis_in Fungi, which pass the resistance barriers of the human or animal body.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Mycoses

communicating hydrocephalus
type: Class
subclass of: hydrocephalus
has db xref: ICD10CM:G91.0
has db xref: ICD9CM:331.3
has db xref: MESH:D006849
has db xref: NCI:C34501
has db xref: SNOMEDCT_US_2023_03_01:59013007
has db xref: UMLS_CUI:C0009451
has OBO namespace: disease_ontology
id: DOID:1573
in subset: NCIthesaurus

alcohol use disorder
type: Class
subclass of: substance abuse
IAO_0000115: A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.
has db xref: ICD10CM:F10.1
has db xref: ICD9CM:305.0
has db xref: MESH:D000437
has db xref: NCI:C20701
has db xref: SNOMEDCT_US_2023_03_01:15167005
has db xref: UMLS_CUI:C0085762
has exact synonym: Ethanol abuse
has exact synonym: alcohol abuse
has OBO namespace: disease_ontology
id: DOID:1574
in subset: DO FlyBase slim
in subset: NCIthesaurus

Axiom
annotated source: alcohol use disorder
annotated property: IAO_0000115
annotated target: A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Alcohol_abuse
has db xref: url:https://www.niaaa.nih.gov/alcohol-health/overview-alcohol-consumption/alcohol-use-disorders

diffuse scleroderma
type: Class
subclass of: systemic scleroderma
has db xref: MESH:D045743
has db xref: NCI:C116791
has db xref: SNOMEDCT_US_2023_03_01:128460000
has db xref: UMLS_CUI:C1258104
has exact synonym: diffuse systemic sclerosis
has exact synonym: systemic sclerosis, diffuse
has OBO namespace: disease_ontology
id: DOID:1580
in subset: NCIthesaurus

laryngeal tuberculosis
type: Class
subclass of: laryngitis
IAO_0000115: A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia.
has db xref: ICD10CM:A15.5
has db xref: ICD9CM:012.3
has db xref: MESH:D014387
has db xref: NCI:C26895
has db xref: SNOMEDCT_US_2023_03_01:70341005
has db xref: UMLS_CUI:C0041315
has OBO namespace: disease_ontology
id: DOID:1583
in subset: NCIthesaurus

Axiom
annotated source: laryngeal tuberculosis
annotated property: IAO_0000115
annotated target: A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia.
type: ECO_0007637
type: ECO_0007645
has db xref: url:http://www.cdc.gov/mmwr/PDF/rr/rr5417.pdf
has db xref: url:http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=16749607

acute chest syndrome
type: Class
subclass of: DOID 850
IAO_0000115: A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph.
has db xref: ICD9CM:517.3
has db xref: MESH:D056586
has db xref: NCI:C138179
has db xref: SNOMEDCT_US_2023_03_01:372146004
has db xref: UMLS_CUI:C0742343
has exact synonym: acute chest syndrome in sickle cell disease
has OBO namespace: disease_ontology
id: DOID:1584
in subset: NCIthesaurus

Axiom
annotated source: acute chest syndrome
annotated property: IAO_0000115
annotated target: A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Acute_chest_syndrome

rheumatic fever
type: Class
subclass of: bacterial infectious disease
IAO_0000115: A connective tissue disease that develops from an antecedent Group A Streptococcal pharyngeal infection and has_symptom carditis, has_symptom polyarthritis, has_symptom chorea, has_symptom erythema marginatum, has_symptom subcutaneous nodules, has_symptom arthralgia, has_symptom prolonged PR interval, and/or has_symptom fever.
has alternative id: DOID:1006
has alternative id: DOID:1007
has db xref: GARD:5699
has db xref: ICD10CM:I00
has db xref: ICD10CM:I00-I02
has db xref: ICD9CM:390
has db xref: ICD9CM:390-392.99
has db xref: MESH:D012213
has db xref: NCI:C34984
has db xref: SNOMEDCT_US_2023_03_01:155265007
has db xref: SNOMEDCT_US_2023_03_01:274095001
has db xref: UMLS_CUI:C0035436
has db xref: UMLS_CUI:C0264743
has exact synonym: ACUTE RHEUMATIC FEVER
has exact synonym: RhF - Rheumatic fever
has OBO namespace: disease_ontology
id: DOID:1586
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus
in subset: gram-positive bacterial infectious disease

Axiom
annotated source: rheumatic fever
annotated property: IAO_0000115
annotated target: A connective tissue disease that develops from an antecedent Group A Streptococcal pharyngeal infection and has_symptom carditis, has_symptom polyarthritis, has_symptom chorea, has_symptom erythema marginatum, has_symptom subcutaneous nodules, has_symptom arthralgia, has_symptom prolonged PR interval, and/or has_symptom fever.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Rheumatic_fever
has db xref: url:https://medlineplus.gov/ency/article/003940.htm

thrombocytopenia due to platelet alloimmunization
type: Class
subclass of: blood platelet disease
has db xref: NCI:C3991
has db xref: SNOMEDCT_US_2023_03_01:2897005
has db xref: UMLS_CUI:C0272286
has exact synonym: Auto-immune thrombocytopenia
has exact synonym: Immune thrombocytopenia
has exact synonym: Thrombocytopenia Due to Immune Destruction
has OBO namespace: disease_ontology
id: DOID:1587
in subset: NCIthesaurus

renovascular hypertension
type: Class
subclass of: renal hypertension
has db xref: ICD10CM:I15.0
has db xref: MESH:D006978
has db xref: NCI:C85044
has db xref: SNOMEDCT_US_2023_03_01:123799005
has db xref: UMLS_CUI:C0020545
has OBO namespace: disease_ontology
id: DOID:1591
in subset: NCIthesaurus

melancholic depression
type: Class
subclass of: major depressive disorder
IAO_0000115: A major depressive disorder characterized by near-complete absence of pleasure.
has alternative id: DOID:2848
has alternative id: DOID:6340
has db xref: MESH:D003866
has db xref: NCI:C34532
has db xref: NCI:C35094
has db xref: SNOMEDCT_US_2023_03_01:191599006
has db xref: UMLS_CUI:C0011573
has db xref: UMLS_CUI:C0041696
has exact synonym: endogenous depression
has exact synonym: major depressive disorder with melancholic features
has exact synonym: melancholia
has OBO namespace: disease_ontology
id: DOID:1595
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: melancholic depression
annotated property: IAO_0000115
annotated target: A major depressive disorder characterized by near-complete absence of pleasure.
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/15596079/

depressive disorder
type: Class
subclass of: mood disorder
IAO_0000115: A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.
has alternative id: DOID:14672
has db xref: ICD10CM:F33.9
has db xref: MESH:D003863
has db xref: NCI:C2982
has db xref: SNOMEDCT_US_2023_03_01:41006004
has db xref: UMLS_CUI:C0011570
has exact synonym: mental depression
has OBO namespace: disease_ontology
has related synonym: depression
id: DOID:1596
in subset: NCIthesaurus

Axiom
annotated source: depressive disorder
annotated property: IAO_0000115
annotated target: A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.
has db xref: url:https://my.clevelandclinic.org/health/diseases/9290-depression
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/31550874/

lymphadenitis
type: Class
subclass of: DOID 9942
IAO_0000115: A lymph node disease that is characterized by an acute or chronic inflammation of one or more lymph nodes.
has alternative id: DOID:1600
has alternative id: DOID:9941
has db xref: ICD10CM:I88.1
has db xref: ICD10CM:L04
has db xref: ICD9CM:289.1
has db xref: ICD9CM:683
has db xref: MESH:D008199
has db xref: NCI:C26821
has db xref: NCI:C26966
has db xref: NCI:C26978
has db xref: SNOMEDCT_US_2023_03_01:154836001
has db xref: SNOMEDCT_US_2023_03_01:156318008
has db xref: SNOMEDCT_US_2023_03_01:19471005
has db xref: UMLS_CUI:C0024205
has db xref: UMLS_CUI:C0154304
has db xref: UMLS_CUI:C0157705
has exact synonym: Adenitis
has exact synonym: Inflammation of lymph node
has exact synonym: acute adenitis
has exact synonym: acute lymphadenitis
has exact synonym: chronic Lymphadenitis
has exact synonym: chronic adenitis
has OBO namespace: disease_ontology
id: DOID:1602
in subset: NCIthesaurus
comment: This doid includes the acute and chronic forms.[LS]

Axiom
annotated source: lymphadenitis
annotated property: IAO_0000115
annotated target: A lymph node disease that is characterized by an acute or chronic inflammation of one or more lymph nodes.
has db xref: url:https://www.hopkinsmedicine.org/health/conditions-and-diseases/lymphadenitis

hypoglycemic coma
type: Class
subclass of: DOID 936
IAO_0000115: A brain disease that is characterized by coma or unconsciousness, develops from a prolonged insufficient supply of glucose to the brain, has_symptom decreased cognition, has_symptom seizure, and has_symptom coma.
has db xref: ICD10CM:E15
has db xref: ICD9CM:251.0
has db xref: NCI:C181765
has db xref: SNOMEDCT_US_2023_03_01:267476006
has db xref: UMLS_CUI:C0020617
has OBO namespace: disease_ontology
id: DOID:1607
in subset: NCIthesaurus

Axiom
annotated source: hypoglycemic coma
annotated property: IAO_0000115
annotated target: A brain disease that is characterized by coma or unconsciousness, develops from a prolonged insufficient supply of glucose to the brain, has_symptom decreased cognition, has_symptom seizure, and has_symptom coma.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007645
has db xref: url:https://en.wikipedia.org/wiki/Hypoglycemia
has db xref: url:https://www.mayoclinic.org/diseases-conditions/diabetic-coma/symptoms-causes/syc-20371475
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1838950/

keratosis
type: Class
subclass of: skin disease
IAO_0000115: A skin disease characterized_by growth of keratin on the skin or mucous membranes.
has db xref: MESH:D007642
has db xref: NCI:C34747
has db xref: SNOMEDCT_US_2023_03_01:254666005
has db xref: UMLS_CUI:C0022593
has OBO namespace: disease_ontology
id: DOID:161
in subset: NCIthesaurus

Axiom
annotated source: keratosis
annotated property: IAO_0000115
annotated target: A skin disease characterized_by growth of keratin on the skin or mucous membranes.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Keratosis

breast cancer
type: Class
subclass of: cancer
IAO_0000115: An organ system cancer that originates in the mammary gland.
has alternative id: DOID:1648
has alternative id: DOID:4241
has db xref: ICD10CM:C50
has db xref: MESH:D001943
has db xref: MIM:114480
has db xref: NCI:C9335
has db xref: SNOMEDCT_US_2023_03_01:254837009
has db xref: UMLS_CUI:C0006142
has exact synonym: breast tumor
has exact synonym: malignant neoplasm of breast
has exact synonym: malignant tumor of the breast
has exact synonym: mammary cancer
has exact synonym: mammary tumor
has exact synonym: primary breast cancer
has OBO namespace: disease_ontology
has related synonym: mammary neoplasm
id: DOID:1612
in subset: DO CFDE slim
in subset: DO RAD slim
in subset: DO cancer slim
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: breast cancer
annotated property: IAO_0000115
annotated target: An organ system cancer that originates in the mammary gland.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007644
has db xref: url:http://en.wikipedia.org/wiki/Breast_cancer
has db xref: url:http://en.wikipedia.org/wiki/Mammary
has db xref: url:http://www.cancer.gov/cancertopics/types/breast
has db xref: url:http://www.nlm.nih.gov/medlineplus/breastcancer.html
has db xref: url:https://www.genome.gov/Genetic-Disorders/Breast-Cancer

benign eccrine breast spiradenoma
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A breast benign neoplasm that arises_from cutaneous sweat glands and is characterized microscopically by two-cell populations: small, dark, basaloid cells with hyperchromatic nuclei, which are immunoreactive for P63 and calponin, and larger cells with a pale nucleus, often near the center of the cluster (inner cells), which are immunoreactive for CK7 and CD117 (C-kit).
has db xref: NCI:C5193
has db xref: UMLS_CUI:C1332492
has OBO namespace: disease_ontology
id: DOID:1616
in subset: NCIthesaurus

Axiom
annotated source: benign eccrine breast spiradenoma
annotated property: IAO_0000115
annotated target: A breast benign neoplasm that arises_from cutaneous sweat glands and is characterized microscopically by two-cell populations: small, dark, basaloid cells with hyperchromatic nuclei, which are immunoreactive for P63 and calponin, and larger cells with a pale nucleus, often near the center of the cluster (inner cells), which are immunoreactive for CK7 and CD117 (C-kit).
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/25284865/
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/26236527/

breast fibroadenoma
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A breast benign neoplasm comprised of fibrous and glandoular tissues located_in breast.
has alternative id: DOID:2684
has alternative id: DOID:2693
has alternative id: DOID:7226
has db xref: ICD10CM:D24
has db xref: MESH:D018226
has db xref: NCI:C3744
has db xref: NCI:C4276
has db xref: NCI:C5194
has db xref: SNOMEDCT_US_2023_03_01:254847007
has db xref: SNOMEDCT_US_2023_03_01:269640007
has db xref: SNOMEDCT_US_2023_03_01:65877006
has db xref: UMLS_CUI:C0178421
has db xref: UMLS_CUI:C0206650
has db xref: UMLS_CUI:C0346158
has db xref: UMLS_CUI:C1333137
has exact synonym: Complex Fibroadenoma of breast
has exact synonym: Fibroadenoma of breast
has exact synonym: Juvenile fibroadenoma
has exact synonym: cellular Fibroadenoma
has exact synonym: fibroadenoma
has exact synonym: juvenile fibroadenoma of breast
has OBO namespace: disease_ontology
id: DOID:1618
in subset: NCIthesaurus

Axiom
annotated source: breast fibroadenoma
annotated property: IAO_0000115
annotated target: A breast benign neoplasm comprised of fibrous and glandoular tissues located_in breast.
type: ECO_0007638
type: ECO_0007640
has db xref: url:http://en.wikipedia.org/wiki/Fibroadenoma
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/007216.htm

cancer
type: Class
subclass of: disease
IAO_0000115: A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.
has db xref: ICD10CM:C80.1
has db xref: ICD9CM:199
has db xref: ICDO:8000/3
has db xref: MESH:D009369
has db xref: NCI:C9305
has db xref: SNOMEDCT_US_2023_03_01:269513004
has db xref: UMLS_CUI:C0006826
has exact synonym: malignant neoplasm
has exact synonym: malignant tumor
has exact synonym: primary cancer
has OBO namespace: disease_ontology
id: DOID:162
in subset: DO AGR slim
in subset: DO CFDE slim
in subset: DO FlyBase slim
in subset: DO GXD slim
in subset: DO RAD slim
in subset: DO cancer slim
in subset: NCIthesaurus
comment: Updating out dated UMLS CUI.

Axiom
annotated source: cancer
annotated property: IAO_0000115
annotated target: A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.
type: ECO_0007638
type: ECO_0007643
has db xref: url:http://en.wikipedia.org/wiki/cancer
has db xref: url:https://www.merriam-webster.com/dictionary/cancer#medicalDictionary

breast leiomyoma
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A breast benign neoplasm that has_material_basis_in smooth muscle cells.
has db xref: NCI:C40399
has db xref: UMLS_CUI:C1511317
has OBO namespace: disease_ontology
id: DOID:1623
in subset: NCIthesaurus

Axiom
annotated source: breast leiomyoma
annotated property: IAO_0000115
annotated target: A breast benign neoplasm that has_material_basis_in smooth muscle cells.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5094828/

breast adenoma
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A breast benign neoplasm that is has_material_basis_in epithelial tissue in which tumor cells form glands or glandlike structures.
has db xref: NCI:C40382
has db xref: SNOMEDCT_US_2023_03_01:269640007
has db xref: UMLS_CUI:C1328385
has exact synonym: Ademoma - breast
has OBO namespace: disease_ontology
id: DOID:1625
in subset: NCIthesaurus

Axiom
annotated source: breast adenoma
annotated property: IAO_0000115
annotated target: A breast benign neoplasm that is has_material_basis_in epithelial tissue in which tumor cells form glands or glandlike structures.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/949710

breast duct papilloma
type: Class
subclass of: intraductal papillary breast neoplasm
IAO_0000115: An intraductal papillary breast neoplasm that is has_material_basis_in epithelial tissue on papillae of vascularized connective tissue.
has db xref: NCI:C3863
has db xref: SNOMEDCT_US_2023_03_01:254848002
has db xref: UMLS_CUI:C0238034
has exact synonym: duct papilloma of breast
has exact synonym: papilloma of the breast
has OBO namespace: disease_ontology
id: DOID:1626
in subset: NCIthesaurus

Axiom
annotated source: breast duct papilloma
annotated property: IAO_0000115
annotated target: An intraductal papillary breast neoplasm that is has_material_basis_in epithelial tissue on papillae of vascularized connective tissue.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Intraductal_papilloma

intraductal papilloma
type: Class
subclass of: intraductal breast benign neoplasm
has db xref: ICDO:8503/0
has db xref: MESH:D018300
has db xref: NCI:C3785
has db xref: SNOMEDCT_US_2023_03_01:5244003
has db xref: UMLS_CUI:C0206713
has exact synonym: ductal papilloma
has OBO namespace: disease_ontology
id: DOID:1627
in subset: NCIthesaurus

intraductal papillary breast neoplasm
type: Class
subclass of: intraductal breast benign neoplasm
IAO_0000115: An intraductal breast benign neoplasm that is characterized by fingerlike growth projections.
has db xref: NCI:C36090
has db xref: UMLS_CUI:C1334252
has OBO namespace: disease_ontology
id: DOID:1628
in subset: NCIthesaurus

Axiom
annotated source: intraductal papillary breast neoplasm
annotated property: IAO_0000115
annotated target: An intraductal breast benign neoplasm that is characterized by fingerlike growth projections.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/22336153

breast myofibroblastoma
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A breast benign neoplasm that derives_from precursor mesenchymal cells with myofibroblastic differentiation.
has db xref: NCI:C40397
has db xref: UMLS_CUI:C1511320
has OBO namespace: disease_ontology
id: DOID:1629
in subset: NCIthesaurus

Axiom
annotated source: breast myofibroblastoma
annotated property: IAO_0000115
annotated target: A breast benign neoplasm that derives_from precursor mesenchymal cells with myofibroblastic differentiation.
type: ECO_0007645
has db xref: url:http://www.pathologyoutlines.com/topic/breastmyofibroblastoma.html
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3199680/

benign breast phyllodes tumor
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A breast benign neoplasm that has_material_basis_in epithelial and stromal tissue and derives_from periductal stromal cells of the breast.
has alternative id: DOID:1633
has alternative id: DOID:2608
has db xref: ICD10CM:D48.6
has db xref: MESH:D003557
has db xref: NCI:C2977
has db xref: NCI:C4274
has db xref: NCI:C5196
has db xref: SNOMEDCT_US_2023_03_01:16566002
has db xref: SNOMEDCT_US_2023_03_01:71232009
has db xref: SNOMEDCT_US_2023_03_01:720344007
has db xref: UMLS_CUI:C0010701
has db xref: UMLS_CUI:C0334501
has db xref: UMLS_CUI:C1332533
has exact synonym: Cystosarcoma phyllodes
has exact synonym: Phyllodes neoplasm
has exact synonym: benign Phyllodes neoplasm
has exact synonym: benign Phyllodes neoplasm of the breast
has exact synonym: benign cystosarcoma phyllodes
has OBO namespace: disease_ontology
id: DOID:1631
in subset: NCIthesaurus

Axiom
annotated source: benign breast phyllodes tumor
annotated property: IAO_0000115
annotated target: A breast benign neoplasm that has_material_basis_in epithelial and stromal tissue and derives_from periductal stromal cells of the breast.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Phyllodes_tumor

breast angiomatosis
type: Class
subclass of: vascular disease
IAO_0000115: A breast disease that is characterized by diffuse vascularity surrounding ducts and lobules without invasion, large irregular vascular spaces and flat epithelium without atypia.
has db xref: NCI:C40381
has db xref: UMLS_CUI:C1511284
has OBO namespace: disease_ontology
id: DOID:1637
in subset: NCIthesaurus

Axiom
annotated source: breast angiomatosis
annotated property: IAO_0000115
annotated target: A breast disease that is characterized by diffuse vascularity surrounding ducts and lobules without invasion, large irregular vascular spaces and flat epithelium without atypia.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/23488550

benign breast adenomyoepithelioma
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A breast benign neoplasm that is characterized by dual differentiation into luminal cells and myoepithelial cells.
has db xref: NCI:C5144
has db xref: UMLS_CUI:C1332477
has exact synonym: benign Adenomyoepithelioma of the breast
has OBO namespace: disease_ontology
id: DOID:1641
in subset: NCIthesaurus

Axiom
annotated source: benign breast adenomyoepithelioma
annotated property: IAO_0000115
annotated target: A breast benign neoplasm that is characterized by dual differentiation into luminal cells and myoepithelial cells.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/23627458

breast adenomyoepithelioma
type: Class
subclass of: breast myoepithelial neoplasm
IAO_0000115: A breast myoepithelial neoplasm that affects the breast and is characterized by biphasic proliferation of both epithelial and myoepithelial cells.
has alternative id: DOID:6640
has db xref: NCI:C5143
has db xref: NCI:C6899
has db xref: UMLS_CUI:C1334564
has db xref: UMLS_CUI:C1510795
has exact synonym: breast Adenomyoepithelioma with malignant Change
has exact synonym: malignant adenomyoepithelioma of breast
has OBO namespace: disease_ontology
has related synonym: adenomyoepithelioma of the breast
id: DOID:1642
in subset: NCIthesaurus

Axiom
annotated source: breast adenomyoepithelioma
annotated property: IAO_0000115
annotated target: A breast myoepithelial neoplasm that affects the breast and is characterized by biphasic proliferation of both epithelial and myoepithelial cells.
type: ECO_0007645
has db xref: url:http://www.ajronline.org/cgi/content/full/180/3/799

ventricular septal defect
type: Class
subclass of: heart septal defect
IAO_0000115: A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles.
has db xref: GARD:7853
has db xref: ICD10CM:Q21.0
has db xref: ICD9CM:745.4
has db xref: MESH:D006345
has db xref: MIM:614429
has db xref: MIM:614431
has db xref: MIM:614432
has db xref: NCI:C84506
has db xref: ORDO:1480
has db xref: SNOMEDCT_US_2023_03_01:156914003
has db xref: UMLS_CUI:C0018818
has exact synonym: Interventricular septal defect
has exact synonym: Ventricular septal abnormality
has OBO namespace: disease_ontology
id: DOID:1657
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: ventricular septal defect
annotated property: IAO_0000115
annotated target: A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Ventricular_septal_defect
has db xref: url:http://www.merckmanuals.com/professional/pediatrics/congenital_cardiovascular_anomalies/ventricular_septal_defect_vsd.html

supratentorial cancer
type: Class
subclass of: brain cancer
IAO_0000115: A brain cancer that is located in the supratentorial region.
has alternative id: DOID:1658
has db xref: ICD10CM:C71.0
has db xref: MESH:D015173
has db xref: NCI:C3397
has db xref: NCI:C4964
has db xref: UMLS_CUI:C0038874
has db xref: UMLS_CUI:C0751589
has exact synonym: Brain neoplasm, Supratentorial
has exact synonym: malignant Supratentorial tumor
has OBO namespace: disease_ontology
id: DOID:1659
in subset: NCIthesaurus

Axiom
annotated source: supratentorial cancer
annotated property: IAO_0000115
annotated target: A brain cancer that is located in the supratentorial region.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Tentorium_cerebelli

melanotic neuroectodermal tumor
type: Class
subclass of: connective tissue benign neoplasm
has db xref: ICDO:9363/0
has db xref: MESH:D017600
has db xref: NCI:C3717
has db xref: SNOMEDCT_US_2023_03_01:1513001
has db xref: UMLS_CUI:C0206094
has exact synonym: Infantile Melanotic neuroectodermal neoplasm
has exact synonym: Melanotic neuroectodermal tumor of infancy
has exact synonym: Melanotic neuroectodermal tumour of infancy
has exact synonym: Pigmented neuroectodermal tumour of infancy
has exact synonym: melanotic neuroectodermal tumour
has OBO namespace: disease_ontology
id: DOID:166
in subset: DO cancer slim
in subset: NCIthesaurus

malignant pineal area germ cell neoplasm
type: Class
subclass of: DOID 5032
has alternative id: DOID:1663
has db xref: GARD:12017
has db xref: NCI:C4659
has db xref: NCI:C6767
has db xref: SNOMEDCT_US_2023_03_01:277508009
has db xref: UMLS_CUI:C0349621
has db xref: UMLS_CUI:C1334612
has exact synonym: Pineal Region germ cell tumor
has exact synonym: malignant Pineal Parenchymal germ cell tumor
has exact synonym: pineal germ cell tumor
has OBO namespace: disease_ontology
id: DOID:1660
in subset: DO rare slim
in subset: NCIthesaurus

pineoblastoma
type: Class
subclass of: DOID 5032
IAO_0000115: A pineal gland neoplasm located_in the brain.
has db xref: GARD:9369
has db xref: ICDO:9362/3
has db xref: MESH:D010871
has db xref: NCI:C9344
has db xref: SNOMEDCT_US_2023_03_01:31671006
has db xref: UMLS_CUI:C0205898
has exact synonym: Pineal PNET
has OBO namespace: disease_ontology
id: DOID:1664
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: pineoblastoma
annotated property: IAO_0000115
annotated target: A pineal gland neoplasm located_in the brain.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Pinealoblastoma
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/28327927

Behcet's syndrome arthropathy
type: Class
subclass of: arthropathy
has alternative id: DOID:12407
has alternative id: DOID:12810
has alternative id: DOID:12982
has alternative id: DOID:1669
has alternative id: DOID:1671
has alternative id: DOID:7354
has alternative id: DOID:8473
has alternative id: DOID:8522
has db xref: ICD9CM:711.2
has db xref: NCI:C35225
has db xref: SNOMEDCT_US_2023_03_01:62918002
has db xref: UMLS_CUI:C0157770
has exact synonym: Arthropathy in Behcet's syndrome involving ankle and foot
has exact synonym: Arthropathy in Behcet's syndrome involving forearm
has exact synonym: Arthropathy in Behcet's syndrome involving hand
has exact synonym: Arthropathy in Behcet's syndrome involving lower leg
has exact synonym: Arthropathy in Behcet's syndrome involving multiple sites
has exact synonym: Arthropathy in Behcet's syndrome involving pelvic region and thigh
has exact synonym: Arthropathy in Behcet's syndrome involving shoulder region
has exact synonym: Arthropathy in Behcet's syndrome involving upper arm
has exact synonym: Behcet syndrome arthropathy
has OBO namespace: disease_ontology
id: DOID:1670
in subset: NCIthesaurus

cystitis
type: Class
subclass of: bladder disease
IAO_0000115: A bladder disease that is characterized by inflammation of the bladder.
has db xref: ICD10CM:N30
has db xref: ICD9CM:595
has db xref: MESH:D003556
has db xref: NCI:C26738
has db xref: SNOMEDCT_US_2023_03_01:38822007
has db xref: UMLS_CUI:C0010692
has OBO namespace: disease_ontology
id: DOID:1679
in subset: NCIthesaurus

Axiom
annotated source: cystitis
annotated property: IAO_0000115
annotated target: A bladder disease that is characterized by inflammation of the bladder.
type: ECO_0007637
has db xref: url:https://www.mayoclinic.org/diseases-conditions/cystitis/symptoms-causes/syc-20371306

heart septal defect
type: Class
subclass of: congenital heart disease
has db xref: ICD10CM:Q21.9
has db xref: MESH:D006343
has db xref: NCI:C84482
has db xref: SNOMEDCT_US_2023_03_01:204290008
has db xref: UMLS_CUI:C0018816
has exact synonym: Cardiac septal defects
has exact synonym: Congenital septal defect of heart
has exact synonym: septal defect
has OBO namespace: disease_ontology
id: DOID:1681
in subset: NCIthesaurus

congenital heart disease
type: Class
subclass of: disease
IAO_0000115: A physical disorder that is characterized by problems with the heart's structure that are present at birth.
has db xref: ICD10CM:Q24.9
has db xref: ICD9CM:746.9
has db xref: MESH:D006330
has db xref: NCI:C34666
has db xref: SNOMEDCT_US_2023_03_01:268315002
has db xref: UMLS_CUI:C0018798
has exact synonym: Congenital Heart Defects
has exact synonym: Congenital anomaly of heart
has exact synonym: Heart Malformation
has exact synonym: congenital heart defect
has exact synonym: heart defect
has OBO namespace: disease_ontology
has related synonym: Heart-congenital defect
id: DOID:1682
in subset: DO FlyBase slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: congenital heart disease
annotated property: IAO_0000115
annotated target: A physical disorder that is characterized by problems with the heart's structure that are present at birth.
has db xref: url:https://www.nhlbi.nih.gov/health/congenital-heart-defects

glaucoma
type: Class
subclass of: DOID 5614
IAO_0000115: An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.
has db xref: ICD10CM:H40
has db xref: ICD9CM:365
has db xref: MESH:D005901
has db xref: NCI:C26782
has db xref: SNOMEDCT_US_2023_03_01:155120009
has db xref: UMLS_CUI:C0017601
has OBO namespace: disease_ontology
id: DOID:1686
in subset: DO FlyBase slim
in subset: NCIthesaurus

Axiom
annotated source: glaucoma
annotated property: IAO_0000115
annotated target: An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Glaucoma
has db xref: url:https://www.aao.org/eye-health/diseases/what-is-glaucoma

neuroendocrine tumor
type: Class
subclass of: endocrine gland cancer
IAO_0000115: An endocrine gland cancer that has_material_basis_in neuroendocrine cells.
has db xref: ICD10CM:D3A.8
has db xref: ICD9CM:209-209.99
has db xref: ICDO:8240/3
has db xref: MESH:D018358
has db xref: NCI:C3809
has db xref: SNOMEDCT_US_2023_03_01:55937004
has db xref: UMLS_CUI:C0206754
has exact synonym: neuroendocrine neoplasm
has OBO namespace: disease_ontology
id: DOID:169
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: neuroendocrine tumor
annotated property: IAO_0000115
annotated target: An endocrine gland cancer that has_material_basis_in neuroendocrine cells.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007641
has db xref: url:http://en.wikipedia.org/wiki/Neuroendocrine_cell
has db xref: url:http://en.wikipedia.org/wiki/Neuroendocrine_tumor
has db xref: url:http://www.cancer.gov/dictionary?CdrID=44904

musculoskeletal system disease
type: Class
subclass of: disease
IAO_0000115: A disease of anatomical entity that occurs in the muscular and/or skeletal system.
has db xref: MESH:D009140
has db xref: NCI:C107377
has db xref: SNOMEDCT_US_2023_03_01:268047003
has db xref: UMLS_CUI:C0026857
has OBO namespace: disease_ontology
id: DOID:17
in subset: DO AGR slim
in subset: DO CFDE slim
in subset: DO GXD slim
in subset: DO MGI slim
in subset: NCIthesaurus

Axiom
annotated source: musculoskeletal system disease
annotated property: IAO_0000115
annotated target: A disease of anatomical entity that occurs in the muscular and/or skeletal system.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Human_musculoskeletal_system#Diseases_and_disorders

endocrine gland cancer
type: Class
subclass of: cancer
IAO_0000115: An organ system cancer located_in endocrine system that is characterized by uncontrolled cellular proliferation of the hormone producing glands of the endocrine system.
has alternative id: DOID:10009
has db xref: ICD10CM:C75.9
has db xref: ICD9CM:194.9
has db xref: MESH:D004701
has db xref: NCI:C3010
has db xref: NCI:C3575
has db xref: SNOMEDCT_US_2023_03_01:127015005
has db xref: SNOMEDCT_US_2023_03_01:93780007
has db xref: UMLS_CUI:C0014132
has db xref: UMLS_CUI:C0153658
has exact synonym: Endocrine tumor
has exact synonym: endocrine neoplasm
has exact synonym: malignant Endocrine tumor
has exact synonym: malignant neoplasm of endocrine gland
has exact synonym: malignant tumour of endocrine gland
has exact synonym: neoplasm of endocrine gland
has exact synonym: neoplasm of endocrine system
has OBO namespace: disease_ontology
id: DOID:170
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim

Axiom
annotated source: endocrine gland cancer
annotated property: IAO_0000115
annotated target: An organ system cancer located_in endocrine system that is characterized by uncontrolled cellular proliferation of the hormone producing glands of the endocrine system.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Endocrine_system

X-linked ichthyosis
type: Class
subclass of: skin disease
IAO_0000115: An ichthyosis that is characterized by a build-up of scales on the skin, typically on the back of the neck and trunk resulting from skin cells that do not properly separate from the outermost surface of the skin, and has_material_basis_in X-linked recessive mutation or deletion of the STS gene on chromosome Xp22.
has db xref: GARD:7904
has db xref: ICD10CM:Q80.1
has db xref: MESH:D016114
has db xref: MIM:308100
has db xref: NCI:C84779
has db xref: SNOMEDCT_US_2023_03_01:72523005
has db xref: UMLS_CUI:C0079588
has exact synonym: X-linked ichthyosis with steryl-sulphatase deficiency
has exact synonym: X-linked placental steryl-sulphatase deficiency
has exact synonym: X-linked recessive ichthyosis
has OBO namespace: disease_ontology
id: DOID:1700
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: X-linked ichthyosis
annotated property: IAO_0000115
annotated target: An ichthyosis that is characterized by a build-up of scales on the skin, typically on the back of the neck and trunk resulting from skin cells that do not properly separate from the outermost surface of the skin, and has_material_basis_in X-linked recessive mutation or deletion of the STS gene on chromosome Xp22.
type: ECO_0007636
type: ECO_0007637
has db xref: url:https://rarediseases.info.nih.gov/diseases/7904/disease
has db xref: url:https://www.omim.org/entry/308100

ichthyosis vulgaris
type: Class
subclass of: skin disease
IAO_0000115: An ichthyosis that has_material_basis_in heterozygous mutation in the filaggrin gene (FLG) on chromosome 1q21 and is characterized by dead skin cells accumulate in thick, dry scales on your skin's surface.
has db xref: GARD:6752
has db xref: ICD10CM:Q80.0
has db xref: MESH:D016112
has db xref: MIM:146700
has db xref: NCI:C84778
has db xref: SNOMEDCT_US_2023_03_01:205551004
has db xref: UMLS_CUI:C0079584
has exact synonym: Dominant congenital ichthyosiform erythroderma
has OBO namespace: disease_ontology
id: DOID:1702
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: ichthyosis vulgaris
annotated property: IAO_0000115
annotated target: An ichthyosis that has_material_basis_in heterozygous mutation in the filaggrin gene (FLG) on chromosome 1q21 and is characterized by dead skin cells accumulate in thick, dry scales on your skin's surface.
type: ECO_0007637
has db xref: url:https://www.mayoclinic.org/diseases-conditions/ichthyosis-vulgaris/symptoms-causes/syc-20373754

Richter's syndrome
type: Class
subclass of: chronic lymphocytic leukemia
has db xref: GARD:7578
has db xref: ICD10CM:C91.1
has db xref: NCI:C35424
has db xref: SNOMEDCT_US_2023_03_01:277550009
has db xref: UMLS_CUI:C0349631
has exact synonym: Richter syndrome
has OBO namespace: disease_ontology
id: DOID:1703
in subset: DO rare slim
in subset: NCIthesaurus

aortic valve stenosis
type: Class
subclass of: DOID 62
IAO_0000115: An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening.
has alternative id: DOID:12034
has alternative id: DOID:1711
has db xref: GARD:5830
has db xref: ICD10CM:I06.0
has db xref: ICD10CM:Q23.0
has db xref: ICD9CM:395.0
has db xref: ICD9CM:746.3
has db xref: MESH:D001024
has db xref: NCI:C50462
has db xref: SNOMEDCT_US_2023_03_01:155282009
has db xref: SNOMEDCT_US_2023_03_01:18546004
has db xref: SNOMEDCT_US_2023_03_01:60573004
has db xref: UMLS_CUI:C0003507
has db xref: UMLS_CUI:C0152417
has db xref: UMLS_CUI:C0155567
has exact synonym: Aortic stenosis
has exact synonym: Rheumatic aortic stenosis
has exact synonym: rheumatic aortic valve stenosis
has OBO namespace: disease_ontology
id: DOID:1712
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: aortic valve stenosis
annotated property: IAO_0000115
annotated target: An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Aortic_valve_stenosis
has db xref: url:https://rarediseases.info.nih.gov/diseases/5830/aortic-valve-stenosis

clear cell acanthoma
type: Class
subclass of: skin benign neoplasm
has db xref: ICDO:8084/0
has db xref: MESH:D049309
has db xref: NCI:C97041
has db xref: SNOMEDCT_US_2023_03_01:65540008
has db xref: UMLS_CUI:C0333992
has exact synonym: Pale (Clear cell) acanthoma
has OBO namespace: disease_ontology
id: DOID:172
in subset: NCIthesaurus

duodenal ulcer
type: Class
subclass of: DOID 750
has alternative id: DOID:10297
has alternative id: DOID:11480
has alternative id: DOID:12880
has alternative id: DOID:13836
has alternative id: DOID:1723
has alternative id: DOID:9780
has alternative id: DOID:9781
has alternative id: DOID:9782
has alternative id: DOID:9783
has db xref: ICD10CM:K26
has db xref: ICD9CM:532
has db xref: MESH:D004381
has db xref: NCI:C26755
has db xref: SNOMEDCT_US_2023_03_01:155691003
has db xref: SNOMEDCT_US_2023_03_01:39755000
has db xref: UMLS_CUI:C0010474
has db xref: UMLS_CUI:C0013295
has exact synonym: Curling Ulcer
has exact synonym: Curling's ulcers
has exact synonym: Stress Ulcer
has OBO namespace: disease_ontology
id: DOID:1724
in subset: NCIthesaurus
comment: Adding UMLS CUI for Curling Ulcer C0013295.

partial of retinal vein occlusion
type: Class
subclass of: retinal vein occlusion
has db xref: ICD10CM:H34.82
has db xref: NCI:C35341
has db xref: SNOMEDCT_US_2023_03_01:65593009
has db xref: UMLS_CUI:C0271080
has exact synonym: Partial Retinal Vein Occlusion
has exact synonym: Partial occlusion of retinal vein
has OBO namespace: disease_ontology
id: DOID:1726
in subset: NCIthesaurus

retinal vein occlusion
type: Class
subclass of: retinal vascular occlusion
has db xref: MESH:D012170
has db xref: NCI:C34981
has db xref: SNOMEDCT_US_2023_03_01:46085004
has db xref: UMLS_CUI:C0035328
has exact synonym: Occlusion, of retinal vein
has OBO namespace: disease_ontology
id: DOID:1727
in subset: NCIthesaurus

retinal vascular occlusion
type: Class
subclass of: vascular disease
has db xref: ICD10CM:H34
has db xref: ICD9CM:362.3
has db xref: NCI:C34980
has db xref: SNOMEDCT_US_2023_03_01:267717005
has db xref: UMLS_CUI:C0035326
has exact synonym: Retinal vasc. occlusion
has OBO namespace: disease_ontology
id: DOID:1729
in subset: NCIthesaurus

eccrine sweat gland neoplasm
type: Class
subclass of: sweat gland benign neoplasm
has db xref: NCI:C6796
has db xref: UMLS_CUI:C1333371
has exact synonym: Eccrine tumor
has exact synonym: eccrine skin neoplasm
has OBO namespace: disease_ontology
id: DOID:173
in subset: NCIthesaurus

histoplasmosis
type: Class
subclass of: fungal infectious disease
IAO_0000115: 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.
has alternative id: DOID:351
has db xref: ICD10CM:B39
has db xref: ICD9CM:115
has db xref: MESH:C538362
has db xref: MESH:D006660
has db xref: NCI:C34977
has db xref: NCI:C77201
has db xref: SNOMEDCT_US_2023_03_01:266218008
has db xref: UMLS_CUI:C0019655
has db xref: UMLS_CUI:C0035288
has OBO namespace: disease_ontology
id: DOID:1731
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: histoplasmosis
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007637
has db xref: url:http://www.cdc.gov/niosh/hi97146.html

cryptosporidiosis
type: Class
subclass of: coccidiosis
IAO_0000115: A coccidiosis that involves a parasitic protozoan infection of the intestine of humans and a wide range of animals caused by Cryptosporidium species, through contaminated water and food, The symptoms include watery diarrhea, dehydration, weight loss, abdominal pain, fever, nausea and vomiting. Cryptosporidium infections have also been found in other digestive tract organs, the lungs, and conjunctiva. Immunocompromised persons are at greater risk of developing the infection.
has alternative id: DOID:1732
has db xref: GARD:6219
has db xref: ICD10CM:A07.2
has db xref: ICD9CM:007.4
has db xref: MESH:D003457
has db xref: NCI:C128408
has db xref: SNOMEDCT_US_2023_03_01:186126003
has db xref: UMLS_CUI:C0010418
has exact synonym: Cryptosporidial gastroenteritis
has exact synonym: Infection by Cryptosporidium
has exact synonym: intestinal cryptosporidiosis
has OBO namespace: disease_ontology
id: DOID:1733
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus
in subset: zoonotic infectious disease

Axiom
annotated source: cryptosporidiosis
annotated property: IAO_0000115
annotated target: A coccidiosis that involves a parasitic protozoan infection of the intestine of humans and a wide range of animals caused by Cryptosporidium species, through contaminated water and food, The symptoms include watery diarrhea, dehydration, weight loss, abdominal pain, fever, nausea and vomiting. Cryptosporidium infections have also been found in other digestive tract organs, the lungs, and conjunctiva. Immunocompromised persons are at greater risk of developing the infection.
type: ECO_0007637
has db xref: url:http://www.dpd.cdc.gov/DPDx/HTML/Cryptosporidiosis.htm

duodenal benign neoplasm
type: Class
subclass of: DOID 7505
has db xref: MESH:D004379
has db xref: NCI:C2995
has db xref: SNOMEDCT_US_2023_03_01:126833009
has db xref: UMLS_CUI:C0013291
has exact synonym: neoplasm of duodenum
has exact synonym: neoplasm of the duodenum
has OBO namespace: disease_ontology
id: DOID:1737
in subset: NCIthesaurus

small intestine leiomyoma
type: Class
subclass of: DOID 7505
IAO_0000115: A small intestine benign neoplasm that is located_in the small intestine.
has db xref: NCI:C7725
has db xref: SNOMEDCT_US_2023_03_01:424279009
has db xref: UMLS_CUI:C0238197
has exact synonym: leiomyoma, small Bowel
has OBO namespace: disease_ontology
id: DOID:1738
in subset: NCIthesaurus

Axiom
annotated source: small intestine leiomyoma
annotated property: IAO_0000115
annotated target: A small intestine benign neoplasm that is located_in the small intestine.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1869141/

acanthoma
type: Class
subclass of: squamous cell neoplasm
has db xref: GARD:8604
has db xref: MESH:D049309
has db xref: NCI:C7419
has db xref: UMLS_CUI:C0846967
has OBO namespace: disease_ontology
id: DOID:174
in subset: DO rare slim
in subset: NCIthesaurus

conjunctival squamous cell carcinoma
type: Class
subclass of: DOID 5467
IAO_0000115: A conjunctival cancer characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that has infiltrated beyond the confines of the epithelial basement membrane.
has db xref: NCI:C4549
has db xref: SNOMEDCT_US_2023_03_01:255003007
has db xref: UMLS_CUI:C0346359
has exact synonym: Conjunctival Epidermoid carcinoma
has exact synonym: invasive squamous cell carcinoma of the conjunctiva
has exact synonym: ocular surface squamous neoplasia
has exact synonym: squamous cell carcinoma of conjunctiva
has OBO namespace: disease_ontology
id: DOID:1748
in subset: NCIthesaurus

Axiom
annotated source: conjunctival squamous cell carcinoma
annotated property: IAO_0000115
annotated target: A conjunctival cancer characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that has infiltrated beyond the confines of the epithelial basement membrane.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/19883851
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/27584160

squamous cell carcinoma
type: Class
subclass of: carcinoma
IAO_0000115: A carcinoma that derives_from squamous epithelial cells.
has alternative id: DOID:5512
has db xref: EFO:0000707
has db xref: GARD:1091
has db xref: ICDO:8070/3
has db xref: MESH:D002294
has db xref: MESH:D018307
has db xref: NCI:C2929
has db xref: SNOMEDCT_US_2023_03_01:1255006006
has db xref: SNOMEDCT_US_2023_03_01:154605007
has db xref: UMLS_CUI:C0007137
has db xref: UMLS_CUI:C0751688
has exact synonym: SCC
has exact synonym: epidermoid carcinoma
has exact synonym: malignant squamous cell tumor
has exact synonym: squamous carcinoma
has exact synonym: squamous cell Epithelioma
has exact synonym: squamous cell cancer
has OBO namespace: disease_ontology
id: DOID:1749
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: squamous cell carcinoma
annotated property: IAO_0000115
annotated target: A carcinoma that derives_from squamous epithelial cells.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Squamous_cell_carcinoma

Axiom
annotated source: squamous cell carcinoma
annotated property: hasExactSynonym
annotated target: SCC
has synonym type: OMO_0003012

vascular cancer
type: Class
subclass of: cardiovascular cancer
IAO_0000115: A cardiovascular cancer that is located_in blood vessels.
has alternative id: DOID:3339
has alternative id: DOID:5454
has alternative id: DOID:5548
has alternative id: DOID:7019
has alternative id: DOID:7020
has alternative id: DOID:7392
has db xref: MESH:D019043
has db xref: NCI:C5348
has db xref: NCI:C5380
has db xref: NCI:C5383
has db xref: NCI:C5388
has db xref: NCI:C7390
has db xref: SNOMEDCT_US_2023_03_01:126737003
has db xref: SNOMEDCT_US_2023_03_01:93817006
has db xref: UMLS_CUI:C0282607
has db xref: UMLS_CUI:C0346845
has db xref: UMLS_CUI:C1290407
has db xref: UMLS_CUI:C1334616
has db xref: UMLS_CUI:C1334617
has db xref: UMLS_CUI:C1334630
has db xref: UMLS_CUI:C1335753
has exact synonym: Blood vessel tumor
has exact synonym: Blood vessel tumors
has exact synonym: Blood vessel tumour disorder
has exact synonym: Haemangiomatous tumour
has exact synonym: blood vessel neoplasm
has exact synonym: leiomyosarcoma of the renal Vein
has exact synonym: malignant great vessel tumor
has exact synonym: malignant tumor of pulmonary Vein
has exact synonym: malignant tumor of pulmonary artery
has exact synonym: malignant vascular neoplasm
has exact synonym: malignant vascular tumor
has exact synonym: neoplasm of great vessel
has exact synonym: pulmonary artery malignant neoplasm
has exact synonym: pulmonary vein malignant neoplasm
has exact synonym: renal vein leiomyosarcoma
has exact synonym: vascular tissue neoplasm
has exact synonym: vascular tumors
has OBO namespace: disease_ontology
id: DOID:175
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim

Axiom
annotated source: vascular cancer
annotated property: IAO_0000115
annotated target: A cardiovascular cancer that is located_in blood vessels.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Vascular

malignant conjunctival melanoma
type: Class
subclass of: DOID 5467
has db xref: NCI:C4550
has db xref: SNOMEDCT_US_2023_03_01:255004001
has db xref: UMLS_CUI:C0346360
has exact synonym: Conjunctival melanoma
has exact synonym: malignant melanoma of conjunctiva
has OBO namespace: disease_ontology
id: DOID:1751
in subset: DO cancer slim
in subset: NCIthesaurus

mitral valve stenosis
type: Class
subclass of: DOID 61
IAO_0000115: A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart.
has db xref: MESH:D008946
has db xref: NCI:C50654
has db xref: SNOMEDCT_US_2023_03_01:79619009
has db xref: UMLS_CUI:C0026269
has exact synonym: Mitral stenosis
has OBO namespace: disease_ontology
id: DOID:1754
in subset: NCIthesaurus

Axiom
annotated source: mitral valve stenosis
annotated property: IAO_0000115
annotated target: A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Mitral_valve_stenosis

facial nerve disease
type: Class
subclass of: DOID 5656
IAO_0000115: A cranial nerve disease that is located_in the facial nerve (seventh cranial nerve.
has db xref: ICD10CM:G51
has db xref: ICD9CM:351
has db xref: MESH:D005155
has db xref: NCI:C27594
has db xref: SNOMEDCT_US_2023_03_01:90039006
has db xref: UMLS_CUI:C0015464
has OBO namespace: disease_ontology
id: DOID:1756
in subset: NCIthesaurus

Axiom
annotated source: facial nerve disease
annotated property: IAO_0000115
annotated target: A cranial nerve disease that is located_in the facial nerve (seventh cranial nerve.
has db xref: url:https://ent.uci.edu/more-at-uc-irvine/conditions/facial-nerve-disorders.asp

facial hemiatrophy
type: Class
subclass of: facial nerve disease
has db xref: MESH:D005150
has db xref: MIM:141300
has db xref: NCI:C84703
has db xref: SNOMEDCT_US_2023_03_01:29868009
has db xref: UMLS_CUI:C0015458
has exact synonym: PARRY-ROMBERG SYNDROME
has OBO namespace: disease_ontology
id: DOID:1757
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

cardiovascular cancer
type: Class
subclass of: cancer
IAO_0000115: An organ system cancer that located_in the heart and blood vessels.
has db xref: NCI:C4784
has db xref: SNOMEDCT_US_2023_03_01:721573003
has db xref: UMLS_CUI:C0497243
has exact synonym: Cardiovascular tumors
has exact synonym: cardiovascular neoplasm
has OBO namespace: disease_ontology
id: DOID:176
in subset: NCIthesaurus

Axiom
annotated source: cardiovascular cancer
annotated property: IAO_0000115
annotated target: An organ system cancer that located_in the heart and blood vessels.
type: ECO_0007637
type: ECO_0007641
has db xref: url:http://www.cancer.gov/dictionary?CdrID=44005
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK537144/

facial nerve neoplasm
type: Class
subclass of: glossopharyngeal nerve neoplasm
has db xref: NCI:C5827
has db xref: SNOMEDCT_US_2023_03_01:126973004
has db xref: UMLS_CUI:C1263899
has exact synonym: neoplasm of facial nerve
has exact synonym: tumor of Facial nerve
has OBO namespace: disease_ontology
id: DOID:1760
in subset: NCIthesaurus

Melkersson-Rosenthal syndrome
type: Class
subclass of: facial nerve disease
has db xref: GARD:7010
has db xref: ICD10CM:G51.2
has db xref: MESH:D008556
has db xref: MIM:155900
has db xref: NCI:C84886
has db xref: SNOMEDCT_US_2023_03_01:2511001
has db xref: UMLS_CUI:C0025235
has exact synonym: Cheilitis granulomatosa of Mescher-Melkersson-Rosenthal
has exact synonym: Melkersson's syndrome
has OBO namespace: disease_ontology
id: DOID:1761
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

cheilitis
type: Class
subclass of: DOID 9297
IAO_0000115: A lip disease characterized by the inflammation of the lips; which may include the perioral skin, the vermilion border and the labial mucosa.
has db xref: ICD10CM:K13.0
has db xref: MESH:D002613
has db xref: NCI:C79545
has db xref: SNOMEDCT_US_2023_03_01:155664000
has db xref: UMLS_CUI:C0007971
has OBO namespace: disease_ontology
id: DOID:1762
in subset: NCIthesaurus

Axiom
annotated source: cheilitis
annotated property: IAO_0000115
annotated target: A lip disease characterized by the inflammation of the lips; which may include the perioral skin, the vermilion border and the labial mucosa.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Cheilitis

vascular disease
type: Class
subclass of: cardiovascular system disease
IAO_0000115: A cardiovascular system disease that primarily affects the blood vessels which includes the arteries, veins and capillaries that carry blood to and from the heart.
has alternative id: DOID:0000405
has alternative id: DOID:2403
has alternative id: DOID:2869
has alternative id: DOID:324
has alternative id: DOID:325
has alternative id: DOID:45
has db xref: ICD10CM:I72.9
has db xref: ICD9CM:442.9
has db xref: MESH:D000783
has db xref: MESH:D014652
has db xref: MESH:D020758
has db xref: MESH:D020760
has db xref: NCI:C26693
has db xref: NCI:C35117
has db xref: SNOMEDCT_US_2023_03_01:27550009
has db xref: SNOMEDCT_US_2023_03_01:371029002
has db xref: SNOMEDCT_US_2023_03_01:432119003
has db xref: UMLS_CUI:C0002940
has db xref: UMLS_CUI:C0042373
has db xref: UMLS_CUI:C0752127
has db xref: UMLS_CUI:C0752130
has exact synonym: vascular tissue disease
has OBO namespace: disease_ontology
id: DOID:178
in subset: DO RAD slim
in subset: NCIthesaurus

Axiom
annotated source: vascular disease
annotated property: IAO_0000115
annotated target: A cardiovascular system disease that primarily affects the blood vessels which includes the arteries, veins and capillaries that carry blood to and from the heart.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Vascular_disease

thyroid cancer
type: Class
subclass of: endocrine gland cancer
IAO_0000115: An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage.
has alternative id: DOID:10008
has db xref: ICD10CM:C73
has db xref: ICD9CM:193
has db xref: KEGG:05216
has db xref: MESH:D013964
has db xref: NCI:C3414
has db xref: NCI:C7510
has db xref: SNOMEDCT_US_2023_03_01:127018007
has db xref: SNOMEDCT_US_2023_03_01:94098005
has db xref: UMLS_CUI:C0007115
has db xref: UMLS_CUI:C0040136
has exact synonym: Thyroid gland neoplasm
has exact synonym: malignant neoplasm of thyroid gland
has exact synonym: malignant tumour of thyroid gland
has exact synonym: neoplasm of thyroid gland
has exact synonym: thyroid gland cancer
has exact synonym: thyroid neoplasm
has OBO namespace: disease_ontology
id: DOID:1781
in subset: DO CFDE slim
in subset: DO cancer slim
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim

Axiom
annotated source: thyroid cancer
annotated property: IAO_0000115
annotated target: An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Thyroid_gland
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/35288841/

pituitary cancer
type: Class
subclass of: endocrine gland cancer
IAO_0000115: An endocrine gland cancer located_in the pituitary gland located at the base of the brain.
has alternative id: DOID:5671
has db xref: GARD:9371
has db xref: ICD10CM:C75.1
has db xref: MESH:D010911
has db xref: NCI:C3330
has db xref: NCI:C4769
has db xref: SNOMEDCT_US_2023_03_01:127024001
has db xref: SNOMEDCT_US_2023_03_01:93964007
has db xref: UMLS_CUI:C0032019
has db xref: UMLS_CUI:C0496842
has exact synonym: Pituitary gland neoplasm
has exact synonym: malignant Pituitary neoplasm
has exact synonym: malignant tumor of pituitary gland
has exact synonym: neoplasm of pituitary gland
has exact synonym: pituitary gland cancer
has exact synonym: pituitary neoplasm
has OBO namespace: disease_ontology
id: DOID:1785
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: pituitary cancer
annotated property: IAO_0000115
annotated target: An endocrine gland cancer located_in the pituitary gland located at the base of the brain.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Pituitary_gland

adrenal rest tumor
type: Class
subclass of: organ system benign neoplasm
has db xref: ICDO:8671/0
has db xref: MESH:D000314
has db xref: NCI:C2860
has db xref: SNOMEDCT_US_2023_03_01:54292009
has db xref: UMLS_CUI:C0001630
has exact synonym: Adrenal Rest neoplasm
has OBO namespace: disease_ontology
id: DOID:1786
in subset: NCIthesaurus

pericarditis
type: Class
subclass of: cardiovascular system disease
IAO_0000115: A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain.
has db xref: MESH:D010493
has db xref: NCI:C34915
has db xref: SNOMEDCT_US_2023_03_01:3238004
has db xref: UMLS_CUI:C0031046
has OBO namespace: disease_ontology
id: DOID:1787
in subset: DO RAD slim
in subset: NCIthesaurus

Axiom
annotated source: pericarditis
annotated property: IAO_0000115
annotated target: A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Pericarditis

peritoneal mesothelioma
type: Class
subclass of: cancer
IAO_0000115: A peritoneum cancer that develops from cells of the mesothelium and is located_in the peritoneum.
has alternative id: DOID:0050874
has alternative id: DOID:7954
has db xref: ICD10CM:C45.1
has db xref: NCI:C8704
has db xref: NCI:C9350
has db xref: SNOMEDCT_US_2023_03_01:187806007
has db xref: UMLS_CUI:C0346109
has db xref: UMLS_CUI:C0854886
has exact synonym: Advanced malignant Mesothelioma of Peritoneum
has exact synonym: advanced malignant peritoneal mesothelioma
has exact synonym: malignant mesothelioma of peritoneum
has OBO namespace: disease_ontology
id: DOID:1788
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: peritoneal mesothelioma
annotated property: IAO_0000115
annotated target: A peritoneum cancer that develops from cells of the mesothelium and is located_in the peritoneum.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Mesothelioma

benign peritoneal mesothelioma
type: Class
subclass of: organ system benign neoplasm
has db xref: NCI:C7633
has db xref: UMLS_CUI:C1377610
has exact synonym: Mesothelioma of Peritoneum
has OBO namespace: disease_ontology
id: DOID:1789
in subset: NCIthesaurus

malignant mesothelioma
type: Class
subclass of: cancer
IAO_0000115: A cell type cancer that has_material_basis_in mesothelial tissue that develops from the thin layer of tissue that covers many of the internal organs.
has alternative id: DOID:4487
has alternative id: DOID:6965
has alternative id: DOID:7434
has db xref: MESH:D000086002
has db xref: MIM:156240
has db xref: NCI:C27926
has db xref: NCI:C4456
has db xref: NCI:C7865
has db xref: NCI:C8420
has db xref: SNOMEDCT_US_2023_03_01:109378008
has db xref: UMLS_CUI:C0278752
has db xref: UMLS_CUI:C0345967
has db xref: UMLS_CUI:C0392400
has db xref: UMLS_CUI:C1332338
has exact synonym: Diffuse malignant Mesothelioma
has exact synonym: advanced malignant mesothelioma
has exact synonym: asbestos-related malignant mesothelioma
has exact synonym: malignant tumor of Mesothelium
has OBO namespace: disease_ontology
id: DOID:1790
in subset: DO cancer slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: malignant mesothelioma
annotated property: IAO_0000115
annotated target: A cell type cancer that has_material_basis_in mesothelial tissue that develops from the thin layer of tissue that covers many of the internal organs.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007641
type: ECO_0007643
has db xref: url:http://cancergenome.nih.gov/cancersselected/Mesothelioma
has db xref: url:http://www.cancer.gov/dictionary?CdrID=44323
has db xref: url:http://www.merriam-webster.com/medlineplus/mesothelioma
has db xref: url:https://en.wikipedia.org/wiki/Mesothelioma

peritoneal carcinoma
type: Class
subclass of: cancer
IAO_0000115: A peritoneum cancer that is located_in the inside of the abdomen.
has db xref: NCI:C40022
has db xref: UMLS_CUI:C1514428
has exact synonym: primary peritoneal carcinoma
has OBO namespace: disease_ontology
id: DOID:1791
in subset: NCIthesaurus

Axiom
annotated source: peritoneal carcinoma
annotated property: IAO_0000115
annotated target: A peritoneum cancer that is located_in the inside of the abdomen.
has db xref: url:https://www.cedars-sinai.org/health-library/diseases-and-conditions/p/peritoneal-cancer.html

pancreas lymphoma
type: Class
subclass of: pancreatic cancer
has db xref: NCI:C5714
has db xref: UMLS_CUI:C1335307
has exact synonym: Lymphoma of pancreas
has OBO namespace: disease_ontology
id: DOID:1792
in subset: NCIthesaurus

pancreatic cancer
type: Class
subclass of: endocrine gland cancer
IAO_0000115: An endocrine gland cancer located_in the pancreas.
has alternative id: DOID:14356
has alternative id: DOID:1797
has alternative id: DOID:3588
has alternative id: DOID:9859
has db xref: GARD:9364
has db xref: ICD10CM:C25.0
has db xref: ICD10CM:C25.1
has db xref: ICD10CM:C25.2
has db xref: ICD9CM:157.0
has db xref: ICD9CM:157.1
has db xref: ICD9CM:157.2
has db xref: ICD9CM:157.8
has db xref: KEGG:05212
has db xref: MESH:D010190
has db xref: NCI:C3305
has db xref: ORDO:1333
has db xref: ORDO:217074
has db xref: SNOMEDCT_US_2023_03_01:126859007
has db xref: SNOMEDCT_US_2023_03_01:187796007
has db xref: SNOMEDCT_US_2023_03_01:93715005
has db xref: SNOMEDCT_US_2023_03_01:93823001
has db xref: SNOMEDCT_US_2023_03_01:94082003
has db xref: UMLS_CUI:C0030297
has db xref: UMLS_CUI:C0153458
has db xref: UMLS_CUI:C0153459
has db xref: UMLS_CUI:C0153460
has db xref: UMLS_CUI:C0153463
has exact synonym: Ca body of pancreas
has exact synonym: Ca head of pancreas
has exact synonym: Ca tail of pancreas
has exact synonym: malignant neoplasm of body of pancreas
has exact synonym: malignant neoplasm of head of pancreas
has exact synonym: malignant neoplasm of tail of pancreas
has exact synonym: pancreas neoplasm
has exact synonym: pancreatic neoplasm
has exact synonym: pancreatic tumor
has OBO namespace: disease_ontology
id: DOID:1793
in subset: DO CFDE slim
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim
comment: Xref MGI.

Axiom
annotated source: pancreatic cancer
annotated property: IAO_0000115
annotated target: An endocrine gland cancer located_in the pancreas.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Pancreatic

malignant exocrine pancreas neoplasm
type: Class
subclass of: pancreatic cancer
IAO_0000115: A pancreatic cancer that arises from the epithelial cells of the exocrine pancreatic tissue.
has alternative id: DOID:1794
has db xref: NCI:C7430
has db xref: SNOMEDCT_US_2023_03_01:255088001
has db xref: UMLS_CUI:C0346648
has exact synonym: malignant neoplasm of the Exocrine pancreas
has exact synonym: malignant tumor of exocrine pancreas
has exact synonym: malignant tumour of exocrine pancreas
has OBO namespace: disease_ontology
id: DOID:1795
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: malignant exocrine pancreas neoplasm
annotated property: IAO_0000115
annotated target: A pancreatic cancer that arises from the epithelial cells of the exocrine pancreatic tissue.
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C7430

pancreas sarcoma
type: Class
subclass of: pancreatic cancer
IAO_0000115: A pancreatic cancer that is located_in the pancreas and that arises from transformed cells of mesenchymal origin.
has db xref: NCI:C5715
has db xref: UMLS_CUI:C1096346
has exact synonym: sarcoma of pancreas
has OBO namespace: disease_ontology
id: DOID:1796
in subset: NCIthesaurus

Axiom
annotated source: pancreas sarcoma
annotated property: IAO_0000115
annotated target: A pancreatic cancer that is located_in the pancreas and that arises from transformed cells of mesenchymal origin.
type: ECO_0007645
has db xref: url:https://brief.land/rro/articles/5126.html

pancreatic endocrine carcinoma
type: Class
subclass of: pancreatic cancer
IAO_0000115: An islet cell tumor that has_material_basis_in epithelial cells.
has db xref: GARD:13034
has db xref: ICD10CM:C25.4
has db xref: ICD9CM:157.4
has db xref: MESH:D018273
has db xref: NCI:C3770
has db xref: SNOMEDCT_US_2023_03_01:254612002
has db xref: UMLS_CUI:C1328479
has exact synonym: Islet cell carcinoma
has exact synonym: carcinoma of endocrine pancreas
has exact synonym: malignant neoplasm of islets of Langerhans
has exact synonym: pancreatic neuroendocrine carcinoma
has OBO namespace: disease_ontology
id: DOID:1798
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: pancreatic endocrine carcinoma
annotated property: IAO_0000115
annotated target: An islet cell tumor that has_material_basis_in epithelial cells.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Carcinoma

urinary system disease
type: Class
subclass of: disease
IAO_0000115: A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra.
has alternative id: DOID:579
has db xref: NCI:C27599
has db xref: UMLS_CUI:C1335051
has exact synonym: Non-neoplastic urinary tract disease
has exact synonym: urinary tract disease
has OBO namespace: disease_ontology
id: DOID:18
in subset: DO AGR slim
in subset: DO CFDE slim
in subset: DO GXD slim
in subset: DO MGI slim
in subset: NCIthesaurus

Axiom
annotated source: urinary system disease
annotated property: IAO_0000115
annotated target: A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Urinary_system

ossifying fibroma
type: Class
subclass of: connective tissue benign neoplasm
IAO_0000115: A bone benign neoplasm that is located_in the mouth and results_in an overgrowth of gingival tissue due to irritation or trauma.
has db xref: ICDO:9262/0
has db xref: MESH:D018214
has db xref: NCI:C8422
has db xref: SNOMEDCT_US_2023_03_01:189896007
has db xref: UMLS_CUI:C0206640
has exact synonym: Fibro-osteoma
has OBO namespace: disease_ontology
has related synonym: peripheral ossifying fibroma
id: DOID:180
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: ossifying fibroma
annotated property: IAO_0000115
annotated target: A bone benign neoplasm that is located_in the mouth and results_in an overgrowth of gingival tissue due to irritation or trauma.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Ossifying_fibroma

neuroendocrine carcinoma
type: Class
subclass of: carcinoma
IAO_0000115: A carcinoma that derives_from neuroendocrine cells.
has db xref: ICDO:8246/3
has db xref: MESH:D018278
has db xref: NCI:C3773
has db xref: SNOMEDCT_US_2023_03_01:55937004
has db xref: UMLS_CUI:C0206695
has OBO namespace: disease_ontology
id: DOID:1800
in subset: NCIthesaurus

Axiom
annotated source: neuroendocrine carcinoma
annotated property: IAO_0000115
annotated target: A carcinoma that derives_from neuroendocrine cells.
has db xref: url:https://www.mayoclinic.org/diseases-conditions/neuroendocrine-tumors/symptoms-causes/syc-20354132

neuritis
type: Class
subclass of: DOID 870
has db xref: MESH:D009443
has db xref: NCI:C116381
has db xref: SNOMEDCT_US_2023_03_01:247378004
has db xref: UMLS_CUI:C0027813
has exact synonym: peripheral neuritis
has OBO namespace: disease_ontology
id: DOID:1803
in subset: NCIthesaurus

reflex sympathetic dystrophy
type: Class
subclass of: DOID 574
has db xref: ICD10CM:G90.5
has db xref: ICD9CM:337.2
has db xref: MESH:D012019
has db xref: MIM:604335
has db xref: NCI:C85042
has db xref: SNOMEDCT_US_2023_03_01:203492008
has db xref: UMLS_CUI:C0034931
has OBO namespace: disease_ontology
id: DOID:1811
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

calcinosis
type: Class
subclass of: disease of metabolism
IAO_0000115: A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue.
has db xref: MESH:D002114
has db xref: NCI:C3672
has db xref: SNOMEDCT_US_2023_03_01:237881004
has db xref: UMLS_CUI:C0006663
has exact synonym: Pathologically calcified structure
has exact synonym: pathologic calcification
has OBO namespace: disease_ontology
id: DOID:182
in subset: NCIthesaurus

Axiom
annotated source: calcinosis
annotated property: IAO_0000115
annotated target: A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Calcinosis

status epilepticus
type: Class
subclass of: epilepsy
has db xref: GARD:10191
has db xref: MESH:D013226
has db xref: NCI:C85079
has db xref: SNOMEDCT_US_2023_03_01:155039002
has db xref: UMLS_CUI:C0038220
has exact synonym: Grand mal status
has OBO namespace: disease_ontology
id: DOID:1824
in subset: DO rare slim
in subset: NCIthesaurus

childhood absence epilepsy
type: Class
subclass of: epilepsy
IAO_0000115: A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years.
has db xref: MESH:D004832
has db xref: NCI:C3023
has db xref: SNOMEDCT_US_2023_03_01:163596002
has db xref: UMLS_CUI:C0014553
has exact synonym: petit mal seizure
has exact synonym: pyknolepsy
has OBO namespace: disease_ontology
has related synonym: absence seizure
id: DOID:1825
in subset: NCIthesaurus

Axiom
annotated source: childhood absence epilepsy
annotated property: IAO_0000115
annotated target: A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Childhood_absence_epilepsy

epilepsy
type: Class
subclass of: DOID 936
IAO_0000115: A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.
has db xref: EFO:0000474
has db xref: ICD10CM:G40
has db xref: ICD9CM:345.9
has db xref: MESH:D004827
has db xref: NCI:C3020
has db xref: SNOMEDCT_US_2023_03_01:267698007
has db xref: UMLS_CUI:C0014544
has exact synonym: epilepsy syndrome
has exact synonym: epileptic syndrome
has OBO namespace: disease_ontology
id: DOID:1826
in subset: DO FlyBase slim
in subset: NCIthesaurus
narrow match: ICD10CM:G40.9
narrow match: ICD10CM:G40.909

Axiom
annotated source: epilepsy
annotated property: IAO_0000115
annotated target: A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.
type: ECO_0007643
has db xref: url:http://www.merriam-webster.com/medlineplus/epilepsy
has db xref: url:https://www.ilae.org/guidelines/definition-and-classification/ilae-classification-of-the-epilepsies-2017

generalized epilepsy
type: Class
subclass of: epilepsy
IAO_0000115: An epilepsy syndrome that is characterized by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain.
has db xref: MESH:D004829
has db xref: MIM:600669
has db xref: NCI:C3021
has db xref: SNOMEDCT_US_2023_03_01:155043003
has db xref: UMLS_CUI:C0014548
has exact synonym: idiopathic generalized epilepsy
has OBO namespace: disease_ontology
id: DOID:1827
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: generalized epilepsy
annotated property: IAO_0000115
annotated target: An epilepsy syndrome that is characterized by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Epilepsy
has db xref: url:http://en.wikipedia.org/wiki/Generalized_epilepsy

mononeuritis multiplex
type: Class
subclass of: DOID 870
has db xref: GARD:7056
has db xref: ICD10CM:G58.7
has db xref: ICD9CM:354.5
has db xref: MESH:D020422
has db xref: NCI:C70938
has db xref: SNOMEDCT_US_2023_03_01:30292005
has db xref: UMLS_CUI:C0151295
has OBO namespace: disease_ontology
id: DOID:1835
in subset: DO rare slim
in subset: NCIthesaurus

diabetic ketoacidosis
type: Class
subclass of: disease of metabolism
IAO_0000115: A metabolic acidosis that is characterized by the shift of acid-base status of the body toward the acid side accompanied by the accumulation of ketone bodies in body tissues and fluids, resulting from uncontrolled diabetes mellitus.
has db xref: ICD9CM:250.1
has db xref: MESH:D016883
has db xref: MIM:612227
has db xref: NCI:C50530
has db xref: SNOMEDCT_US_2023_03_01:154671004
has db xref: UMLS_CUI:C0011880
has exact synonym: DIABETES MELLITUS, KETOSIS-PRONE
has exact synonym: ketosis-prone diabetes mellitus
has OBO namespace: disease_ontology
id: DOID:1837
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: diabetic ketoacidosis
annotated property: IAO_0000115
annotated target: A metabolic acidosis that is characterized by the shift of acid-base status of the body toward the acid side accompanied by the accumulation of ketone bodies in body tissues and fluids, resulting from uncontrolled diabetes mellitus.
has db xref: url:https://medlineplus.gov/ency/article/000320.htm
has db xref: url:https://www.mayoclinic.org/diseases-conditions/diabetic-ketoacidosis/symptoms-causes/syc-20371551

Menkes disease
type: Class
subclass of: DOID 655
has db xref: GARD:1521
has db xref: MESH:D007706
has db xref: MIM:309400
has db xref: NCI:C75486
has db xref: SNOMEDCT_US_2023_03_01:59178007
has db xref: UMLS_CUI:C0022716
has exact synonym: COPPER TRANSPORT DISEASE
has exact synonym: Menkes kinky-hair syndrome
has exact synonym: steely hair syndrome
has OBO namespace: disease_ontology
id: DOID:1838
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

bone cancer
type: Class
subclass of: cancer
IAO_0000115: A connective tissue cancer that is located_in bone and is characterized by uncontrolled cellular proliferation that destroys normal bone tissue.
has alternative id: DOID:3348
has db xref: MESH:D001859
has db xref: NCI:C9343
has db xref: SNOMEDCT_US_2023_03_01:126537000
has db xref: UMLS_CUI:C0005967
has exact synonym: CA - bone cancer
has exact synonym: bone neoplasm
has exact synonym: bone tumour
has exact synonym: malignant bone neoplasm
has exact synonym: malignant bone tumour
has exact synonym: malignant neoplasm of bone
has exact synonym: malignant osseous tumor
has exact synonym: neoplasm of bone
has exact synonym: osseous tumor
has OBO namespace: disease_ontology
id: DOID:184
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim

Axiom
annotated source: bone cancer
annotated property: IAO_0000115
annotated target: A connective tissue cancer that is located_in bone and is characterized by uncontrolled cellular proliferation that destroys normal bone tissue.
type: ECO_0007637
has db xref: url:http://www.cancer.gov/cancertopics/factsheet/Sites-Types/bone
has db xref: url:http://www.cancer.gov/cancertopics/types/bone

cannabis dependence
type: Class
subclass of: DOID 9977
IAO_0000115: A drug dependence that involves the continued use of cannabis despite problems related to use of the substance.
has db xref: ICD10CM:F12.2
has db xref: ICD9CM:304.3
has db xref: MESH:D002189
has db xref: NCI:C34445
has db xref: SNOMEDCT_US_2023_03_01:268766005
has db xref: UMLS_CUI:C0006870
has OBO namespace: disease_ontology
id: DOID:1849
in subset: NCIthesaurus

Axiom
annotated source: cannabis dependence
annotated property: IAO_0000115
annotated target: A drug dependence that involves the continued use of cannabis despite problems related to use of the substance.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Cannabis_dependence

intrahepatic cholestasis
type: Class
subclass of: cholestasis
IAO_0000115: A cholestasis characterized by impairment of the bile flow caused by obstruction located_in liver.
has db xref: GARD:10214
has db xref: MESH:D002780
has db xref: NCI:C84400
has db xref: ORDO:284385
has db xref: SNOMEDCT_US_2023_03_01:4637005
has db xref: UMLS_CUI:C0008372
has exact synonym: neonatal intrahepatic cholestasis
has OBO namespace: disease_ontology
id: DOID:1852
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: intrahepatic cholestasis
annotated property: IAO_0000115
annotated target: A cholestasis characterized by impairment of the bile flow caused by obstruction located_in liver.
has db xref: url:https://medlineplus.gov/ency/article/000215.htm

cherubism 1
type: Class
subclass of: DOID 65
IAO_0000115: A cherubism that has_material_basis_in heterozygous mutation in the SH3BP2 gene on chromosome 4p16.3.
has db xref: GARD:6036
has db xref: MIM:118400
has db xref: NCI:C84630
has OBO namespace: disease_ontology
id: DOID:1856
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: cherubism 1
annotated property: IAO_0000115
annotated target: A cherubism that has_material_basis_in heterozygous mutation in the SH3BP2 gene on chromosome 4p16.3.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/10364528
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/11381256

McCune Albright syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and café-au-lait spots and has_material_basis_in spontaneous post zygotic missense mutation at ARG201 or Gln227 of the GNAS gene during embryogenesis.
has alternative id: DOID:11345
has db xref: GARD:6995
has db xref: ICD10CM:Q78.1
has db xref: ICD9CM:756.54
has db xref: MESH:D005359
has db xref: MIM:174800
has db xref: NCI:C34610
has db xref: SNOMEDCT_US_2023_03_01:205508003
has db xref: UMLS_CUI:C0016065
has exact synonym: fibrous dysplasia of bone
has exact synonym: osteitis fibrosa disseminata
has exact synonym: polyostotic fibrous dysplasia
has OBO namespace: disease_ontology
id: DOID:1858
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: McCune Albright syndrome
annotated property: IAO_0000115
annotated target: A syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and café-au-lait spots and has_material_basis_in spontaneous post zygotic missense mutation at ARG201 or Gln227 of the GNAS gene during embryogenesis.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007646
has db xref: url:http://en.wikipedia.org/wiki/McCune%E2%80%93Albright_syndrome
has db xref: url:http://ghr.nlm.nih.gov/condition/mccune-albright-syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK537092/

skull cancer
type: Class
subclass of: bone cancer
has db xref: MESH:D012888
has db xref: NCI:C3375
has db xref: SNOMEDCT_US_2023_03_01:126538005
has db xref: UMLS_CUI:C0037305
has OBO namespace: disease_ontology
id: DOID:1863
in subset: NCIthesaurus

giant cell reparative granuloma
type: Class
subclass of: bone giant cell tumor
has db xref: ICD10CM:M27.1
has db xref: ICD9CM:526.3
has db xref: MESH:D006101
has db xref: NCI:C173930
has db xref: SNOMEDCT_US_2023_03_01:15350006
has db xref: UMLS_CUI:C0162375
has exact synonym: central giant cell (reparative) granuloma
has exact synonym: central giant cell granuloma
has exact synonym: central giant cell reparative granuloma of jaw
has OBO namespace: disease_ontology
id: DOID:1866
in subset: NCIthesaurus

impotence
type: Class
subclass of: sexual dysfunction
IAO_0000115: A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity.
has db xref: EFO:0004234
has db xref: NCI:C3133
has exact synonym: Sexual impotence
has exact synonym: erectile dysfunction
has OBO namespace: disease_ontology
id: DOID:1875
in subset: NCIthesaurus

Axiom
annotated source: impotence
annotated property: IAO_0000115
annotated target: A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity.
has db xref: url:https://www.mayoclinic.org/diseases-conditions/erectile-dysfunction/symptoms-causes/syc-20355776

sexual dysfunction
type: Class
subclass of: reproductive system disease
IAO_0000115: A male reproductive system disease that is characterized by disturbances in sexual desire or performance.
has db xref: ICD10CM:F52.9
has db xref: NCI:C3347
has db xref: SNOMEDCT_US_2023_03_01:39894007
has db xref: UMLS_CUI:C0549622
has OBO namespace: disease_ontology
id: DOID:1876
in subset: NCIthesaurus

Axiom
annotated source: sexual dysfunction
annotated property: IAO_0000115
annotated target: A male reproductive system disease that is characterized by disturbances in sexual desire or performance.
has db xref: url:https://my.clevelandclinic.org/health/diseases/9121-sexual-dysfunction

atrial heart septal defect
type: Class
subclass of: heart septal defect
IAO_0000115: A heart septal defect located_in in the septum that separates the two atria of the heart.
has db xref: ICD10CM:Q21.1
has db xref: MESH:D006344
has db xref: MIM:PS108800
has db xref: NCI:C84473
has db xref: ORDO:1478
has db xref: SNOMEDCT_US_2023_03_01:156915002
has db xref: UMLS_CUI:C0018817
has exact synonym: atrial septal defect
has exact synonym: atrioseptal defect
has exact synonym: auricular septal defect
has exact synonym: congenital atrial septal defect
has exact synonym: interatrial septal defect
has exact synonym: interauricular septal defect
has OBO namespace: disease_ontology
id: DOID:1882
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: atrial heart septal defect
annotated property: IAO_0000115
annotated target: A heart septal defect located_in in the septum that separates the two atria of the heart.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Atrial_septal_defect

hepatitis C
type: Class
subclass of: hepatitis
IAO_0000115: A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in hepatitis C virus (Hepacivirus hominis), which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.
has alternative id: DOID:12430
has alternative id: DOID:12432
has alternative id: DOID:2049
has db xref: EFO:0003047
has db xref: ICD10CM:B19.20
has db xref: ICD9CM:070.7
has db xref: MESH:D006526
has db xref: NCI:C3098
has db xref: SNOMEDCT_US_2023_03_01:154349000
has db xref: UMLS_CUI:C0019196
has exact synonym: NANBH
has exact synonym: Viral hepatitis C
has exact synonym: chronic hepatitis C
has exact synonym: hepatitis C infection
has exact synonym: hepatitis nonA nonB
has OBO namespace: disease_ontology
id: DOID:1883
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: hepatitis C
annotated property: IAO_0000115
annotated target: A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in hepatitis C virus (Hepacivirus hominis), which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.
type: ECO_0007637
has db xref: url:http://www.cdc.gov/hepatitis/HCV/index.htm
has db xref: url:http://www.cdc.gov/hepatitis/Resources/Professionals/PDFs/ABCTable.pdf
has db xref: url:http://www.cdc.gov/hepatitis/hcv/pdfs/hepcgeneralfactsheet.pdf
has db xref: url:https://www.cdc.gov/hepatitis-c/about/index.html

Axiom
annotated source: hepatitis C
annotated property: hasExactSynonym
annotated target: NANBH
has synonym type: OMO_0003012

optic nerve disease
type: Class
subclass of: DOID 5656
IAO_0000115: A cranial nerve disease that is located_in the optic nerve.
has db xref: MESH:D009901
has db xref: NCI:C79698
has db xref: SNOMEDCT_US_2023_03_01:77157004
has db xref: UMLS_CUI:C0029132
has exact synonym: disorder of the second nerve
has exact synonym: optic nerve disorder
has exact synonym: optic neuropathy
has OBO namespace: disease_ontology
id: DOID:1891
in subset: NCIthesaurus

Axiom
annotated source: optic nerve disease
annotated property: IAO_0000115
annotated target: A cranial nerve disease that is located_in the optic nerve.
type: ECO_0007645
has db xref: url:http://www.academy.org.uk/lectures/barnard3.htm
has db xref: url:http://www.nature.com/eye/journal/v18/n11/full/6701575a.html

vagina sarcoma
type: Class
subclass of: vaginal cancer
IAO_0000115: A vaginal cancer that has_material_basis_in connective tissue.
has db xref: NCI:C7737
has db xref: UMLS_CUI:C0238519
has exact synonym: sarcoma of the vagina
has OBO namespace: disease_ontology
id: DOID:1901
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: vagina sarcoma
annotated property: IAO_0000115
annotated target: A vaginal cancer that has_material_basis_in connective tissue.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/21816677

malignant skin fibrous histiocytoma
type: Class
subclass of: DOID 5274
has db xref: NCI:C5576
has db xref: SNOMEDCT_US_2023_03_01:404014008
has db xref: UMLS_CUI:C1275254
has exact synonym: malignant fibrous histiocytoma of skin
has exact synonym: vaginal melanoma
has OBO namespace: disease_ontology
id: DOID:1906
in subset: NCIthesaurus

malignant fibrous histiocytoma
type: Class
subclass of: cancer
has db xref: ICDO:8830/3
has db xref: MESH:D051677
has db xref: NCI:C4247
has db xref: SNOMEDCT_US_2023_03_01:34360000
has db xref: UMLS_CUI:C0334463
has exact synonym: Fibroxanthosarcoma
has exact synonym: MFH
has OBO namespace: disease_ontology
id: DOID:1907
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: malignant fibrous histiocytoma
annotated property: hasExactSynonym
annotated target: MFH
has synonym type: OMO_0003012

melanoma
type: Class
subclass of: cancer
IAO_0000115: A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.
has db xref: EFO:0000756
has db xref: ICDO:8720/3
has db xref: KEGG:05218
has db xref: MESH:D008545
has db xref: NCI:C3224
has db xref: SNOMEDCT_US_2023_03_01:2092003
has db xref: UMLS_CUI:C0025202
has exact synonym: Naevocarcinoma
has exact synonym: malignant melanoma
has OBO namespace: disease_ontology
id: DOID:1909
in subset: DO RAD slim
in subset: DO cancer slim
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim

Axiom
annotated source: melanoma
annotated property: IAO_0000115
annotated target: A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/Melanoma
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/22123420

vaginal yolk sac tumor
type: Class
subclass of: vaginal cancer
IAO_0000115: A vaginal cancer that is a primitive, malignant, germ cell tumor with histological features recapitulating various development phases of the normal yolk sac.
has db xref: NCI:C6379
has db xref: UMLS_CUI:C1336945
has exact synonym: vaginal Yolk Sac neoplasm
has exact synonym: vaginal endodermal sinus neoplasm
has OBO namespace: disease_ontology
id: DOID:1910
in subset: NCIthesaurus

Axiom
annotated source: vaginal yolk sac tumor
annotated property: IAO_0000115
annotated target: A vaginal cancer that is a primitive, malignant, germ cell tumor with histological features recapitulating various development phases of the normal yolk sac.
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/30814243

endodermal sinus tumor
type: Class
subclass of: germ cell cancer
IAO_0000115: A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo.
has db xref: ICDO:9071/3
has db xref: MESH:D018240
has db xref: NCI:C3011
has db xref: SNOMEDCT_US_2023_03_01:74409009
has db xref: UMLS_CUI:C0014145
has exact synonym: Hepatoid yolk sac tumour
has exact synonym: Yolk Sac neoplasm
has exact synonym: Yolk sac tumour
has exact synonym: endodermal sinus tumour
has exact synonym: infantile embryonal carcinoma
has exact synonym: yolk sac tumor
has OBO namespace: disease_ontology
id: DOID:1911
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: endodermal sinus tumor
annotated property: IAO_0000115
annotated target: A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo.
type: ECO_0007636
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Endodermal_sinus_tumor
has db xref: url:http://en.wikipedia.org/wiki/Germ_cell_tumor
has db xref: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=876
has db xref: url:https://www.cincinnatichildrens.org/health/y/yolk-sac/

Lesch-Nyhan syndrome
type: Class
subclass of: DOID 655
IAO_0000115: A purine-pyrimidine metabolic disorder characterized by mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips that has_material_basis_in mutation in the HPRT1 gene on chromosome Xq26.
has db xref: ICD10CM:E79.1
has db xref: MESH:D007926
has db xref: MIM:300322
has db xref: NCI:C61255
has db xref: SNOMEDCT_US_2023_03_01:190918000
has db xref: UMLS_CUI:C0023374
has exact synonym: Complete hypoxanthine-guanine phosphoribosyltransferase deficiency
has exact synonym: HG-PRT deficiency
has exact synonym: HPRT1 deficiency
has exact synonym: Hypoxanthine-guanine phosphoribosyltransferase deficiency
has exact synonym: Hypoxanthine-guanine-phosphoribosyltransferase deficiency
has exact synonym: Lesch - Nyhan syndrome
has exact synonym: X-linked hyperuricemia
has exact synonym: deficiency of IMP pyrophosphorylase
has exact synonym: hypoxanthine guanine phosphoribosyltransferase deficiency
has OBO namespace: disease_ontology
id: DOID:1919
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Lesch-Nyhan syndrome
annotated property: IAO_0000115
annotated target: A purine-pyrimidine metabolic disorder characterized by mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips that has_material_basis_in mutation in the HPRT1 gene on chromosome Xq26.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/31182398/

sex cord-gonadal stromal tumor
type: Class
subclass of: reproductive organ cancer
IAO_0000115: A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary or testis and derives_from granulosa cells, Leydig cells, Sertoli cells, and fibroblasts.
has alternative id: DOID:12293
has db xref: ICDO:8590/1
has db xref: MESH:D018312
has db xref: NCI:C3794
has db xref: SNOMEDCT_US_2023_03_01:253028001
has db xref: UMLS_CUI:C0206724
has exact synonym: Sex Cord-Stromal neoplasm
has exact synonym: Sex cord stromal tumour
has exact synonym: Specialized gonadal neoplasm
has exact synonym: Specialized gonadal tumor
has exact synonym: Specialized gonadal tumour
has exact synonym: sex cord-gonadal stromal tumour
has OBO namespace: disease_ontology
id: DOID:192
in subset: NCIthesaurus

Axiom
annotated source: sex cord-gonadal stromal tumor
annotated property: IAO_0000115
annotated target: A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary or testis and derives_from granulosa cells, Leydig cells, Sertoli cells, and fibroblasts.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Sex_cord-gonadal_stromal_tumour

hyperuricemia
type: Class
subclass of: disease of metabolism
IAO_0000115: An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood.
has db xref: MESH:D033461
has db xref: NCI:C3961
has db xref: SNOMEDCT_US_2023_03_01:271198001
has db xref: UMLS_CUI:C0740394
has exact synonym: Blood urate raized
has exact synonym: uricacidemia
has OBO namespace: disease_ontology
id: DOID:1920
in subset: NCIthesaurus

Axiom
annotated source: hyperuricemia
annotated property: IAO_0000115
annotated target: An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Hyperuricemia

Klinefelter syndrome
type: Class
subclass of: DOID 630
IAO_0000115: A chromosomal duplication syndrome that is characterized by infertility and that has_material_basis_in an extra X chromosome in cells in men.
has db xref: GARD:8705
has db xref: ICD10CM:Q98.0
has db xref: ICD9CM:758.7
has db xref: MESH:D007713
has db xref: NCI:C34752
has db xref: SNOMEDCT_US_2023_03_01:405770005
has db xref: UMLS_CUI:C0022735
has exact synonym: 47, XXY
has exact synonym: Hypogonadotropic Hypogonadism
has exact synonym: Klinefelter's syndrome
has exact synonym: XXY syndrome
has exact synonym: XXY trisomy
has OBO namespace: disease_ontology
id: DOID:1921
in subset: DO rare slim
in subset: NCIthesaurus
comment: No OMIM mapping, confirmed by DO. [LS].

Axiom
annotated source: Klinefelter syndrome
annotated property: IAO_0000115
annotated target: A chromosomal duplication syndrome that is characterized by infertility and that has_material_basis_in an extra X chromosome in cells in men.
has db xref: url:https://ghr.nlm.nih.gov/condition/klinefelter-syndrome
has db xref: url:https://www.genome.gov/Genetic-Disorders/Klinefelter-Syndrome

hypogonadism
type: Class
subclass of: gonadal disease
IAO_0000115: A gonadal disease that is characterized by diminished functional activity of the gonads.
has db xref: MESH:D007006
has db xref: MIM:241100
has db xref: NCI:C9227
has db xref: SNOMEDCT_US_2023_03_01:48130008
has db xref: UMLS_CUI:C0020619
has OBO namespace: disease_ontology
id: DOID:1924
in subset: NCIthesaurus

Axiom
annotated source: hypogonadism
annotated property: IAO_0000115
annotated target: A gonadal disease that is characterized by diminished functional activity of the gonads.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Hypogonadism

Coffin-Siris syndrome
type: Class
subclass of: intellectual disability
IAO_0000115: An autosomal dominant intellectual developmental disorder that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails.
has db xref: GARD:6124
has db xref: MESH:C536436
has db xref: MIM:PS135900
has db xref: NCI:C35321
has db xref: ORDO:1465
has db xref: SNOMEDCT_US_2023_03_01:10007009
has db xref: UMLS_CUI:C0265338
has exact synonym: Dwarfism-Onychodysplasia
has exact synonym: Fifth Digit Syndrome
has exact synonym: Short Stature-Onychodysplasia.
has OBO namespace: disease_ontology
id: DOID:1925
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Coffin-Siris syndrome
annotated property: IAO_0000115
annotated target: An autosomal dominant intellectual developmental disorder that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Coffin%E2%80%93Siris_syndrome
has db xref: url:http://ghr.nlm.nih.gov/condition/coffin-siris-syndrome
has db xref: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1465

Gaucher's disease
type: Class
subclass of: sphingolipidosis
IAO_0000115: A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver.
has db xref: GARD:8233
has db xref: ICD10CM:E75.22
has db xref: MESH:D005776
has db xref: NCI:C61268
has db xref: ORDO:355
has db xref: SNOMEDCT_US_2023_03_01:190794006
has db xref: UMLS_CUI:C0017205
has exact synonym: Gaucher disease
has exact synonym: acid beta-glucosidase deficiency
has exact synonym: glocucerebrosidase deficiency
has exact synonym: glucosylceramide beta-glucosidase deficiency
has exact synonym: kerasin thesaurismosis
has OBO namespace: disease_ontology
id: DOID:1926
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Gaucher's disease
annotated property: IAO_0000115
annotated target: A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver.
type: ECO_0007636
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Gaucher%27s_disease
has db xref: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/12/viewAbstract

sphingolipidosis
type: Class
subclass of: lysosomal storage disease
IAO_0000115: A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates.
has db xref: GARD:7672
has db xref: ICD10CM:E75.3
has db xref: MESH:D013106
has db xref: NCI:C117254
has db xref: SNOMEDCT_US_2023_03_01:58459009
has db xref: UMLS_CUI:C0037899
has exact synonym: sphingolipidoses
has OBO namespace: disease_ontology
id: DOID:1927
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: sphingolipidosis
annotated property: IAO_0000115
annotated target: A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates.
type: ECO_0007638
type: ECO_0007645
has db xref: url:https://en.wikipedia.org/wiki/Sphingolipidoses
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/28857617

Williams-Beuren syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23.
has db xref: ICD10CM:Q93.82
has db xref: MESH:D018980
has db xref: MIM:194050
has db xref: NCI:C85232
has db xref: SNOMEDCT_US_2023_03_01:63247009
has db xref: UMLS_CUI:C0175702
has exact synonym: Fanconi Schlesinger syndrome
has exact synonym: WBS
has OBO namespace: disease_ontology
id: DOID:1928
in subset: DO FlyBase slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: Williams-Beuren syndrome
annotated property: IAO_0000115
annotated target: A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23.
has db xref: url:https://ghr.nlm.nih.gov/condition/williams-syndrome
has db xref: url:https://research.nhgri.nih.gov/atlas/condition/williams-syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK1249/

Axiom
annotated source: Williams-Beuren syndrome
annotated property: hasExactSynonym
annotated target: WBS
has synonym type: OMO_0003012

supravalvular aortic stenosis
type: Class
subclass of: aortic valve stenosis
IAO_0000115: An aortic valve stenosis that is characterized by a narrowing of the section of the aorta just above the valve that connects the aorta to the heart.
has db xref: GARD:743
has db xref: ICD10CM:Q25.3
has db xref: MESH:D021921
has db xref: MIM:185500
has db xref: NCI:C85176
has db xref: SNOMEDCT_US_2023_03_01:204436002
has db xref: UMLS_CUI:C0003499
has exact synonym: Supra-valvular aortic stenosis
has OBO namespace: disease_ontology
id: DOID:1929
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: supravalvular aortic stenosis
annotated property: IAO_0000115
annotated target: An aortic valve stenosis that is characterized by a narrowing of the section of the aorta just above the valve that connects the aorta to the heart.
type: ECO_0007637
has db xref: url:https://ghr.nlm.nih.gov/condition/supravalvular-aortic-stenosis
has db xref: url:https://rarediseases.info.nih.gov/diseases/743/supravalvular-aortic-stenosis

reproductive organ cancer
type: Class
subclass of: cancer
IAO_0000115: An organ system cancer that is manifested in the reproductive organs.
has alternative id: DOID:1900
has db xref: NCI:C3674
has db xref: UMLS_CUI:C0178830
has exact synonym: Reproductive tumor
has exact synonym: malignant reproductive system neoplasm
has OBO namespace: disease_ontology
has related synonym: cancer of reproductive system
id: DOID:193
in subset: NCIthesaurus

Axiom
annotated source: reproductive organ cancer
annotated property: IAO_0000115
annotated target: An organ system cancer that is manifested in the reproductive organs.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Reproductive_system#Examples_of_cancers

Laurence-Moon syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by pituitary dysfunction, childhood onset ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the PNPLA6 gene on chromosome 19p13.2.
has db xref: GARD:12635
has db xref: MEDDRA:10056710
has db xref: MESH:D007849
has db xref: MIM:245800
has db xref: NCI:C34760
has db xref: ORDO:2377
has db xref: SNOMEDCT_US_2023_03_01:232059000
has db xref: UMLS_CUI:C0023138
has exact synonym: LNMS
has OBO namespace: disease_ontology
has related synonym: Laurence-Moon-Biedl syndrome
id: DOID:1930
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Laurence-Moon syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by pituitary dysfunction, childhood onset ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the PNPLA6 gene on chromosome 19p13.2.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/25480986

Axiom
annotated source: Laurence-Moon syndrome
annotated property: hasExactSynonym
annotated target: LNMS
has synonym type: OMO_0003012

Angelman syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance.
has db xref: GARD:5810
has db xref: ICD10CM:Q93.51
has db xref: MESH:D017204
has db xref: MIM:105830
has db xref: NCI:C75462
has db xref: SNOMEDCT_US_2023_03_01:76880004
has db xref: UMLS_CUI:C0162635
has exact synonym: happy puppet syndrome
has exact synonym: puppetlike syndrome
has OBO namespace: disease_ontology
id: DOID:1932
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Angelman syndrome
annotated property: IAO_0000115
annotated target: A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance.
type: ECO_0007637
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Angelman_syndrome
has db xref: url:https://ghr.nlm.nih.gov/condition/angelman-syndrome#genes
has db xref: url:https://research.nhgri.nih.gov/atlas/condition/angelman-syndrome

Rubinstein-Taybi syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes.
has db xref: GARD:7593
has db xref: ICD10CM:Q87.2
has db xref: MESH:D012415
has db xref: MIM:180849
has db xref: MIM:610543
has db xref: MIM:613684
has db xref: NCI:C75466
has db xref: ORDO:783
has db xref: SNOMEDCT_US_2023_03_01:157032007
has db xref: UMLS_CUI:C0035934
has exact synonym: Broad Thumb-Hallux syndrome
has exact synonym: Rubinstein syndrome
has exact synonym: proximal chromosome 16p13.3 deletion syndrome
has OBO namespace: disease_ontology
id: DOID:1933
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Rubinstein-Taybi syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Rubinstein%E2%80%93Taybi_syndrome
has db xref: url:http://ghr.nlm.nih.gov/condition/rubinstein-taybi-syndrome
has db xref: url:https://research.nhgri.nih.gov/atlas/condition/rubinstein-taybi-syndrome

dysostosis
type: Class
subclass of: DOID 65
IAO_0000115: A bone development disease that results in defective ossification of bone.
has db xref: MESH:D004413
has db xref: NCI:C34560
has db xref: SNOMEDCT_US_2023_03_01:109420003
has db xref: UMLS_CUI:C0013393
has OBO namespace: disease_ontology
id: DOID:1934
in subset: NCIthesaurus

Axiom
annotated source: dysostosis
annotated property: IAO_0000115
annotated target: A bone development disease that results in defective ossification of bone.
type: ECO_0007638
type: ECO_0007641
has db xref: url:http://en.wikipedia.org/wiki/Dysostosis
has db xref: url:http://medical-dictionary.thefreedictionary.com/dysostosis

Bardet-Biedl syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.
has db xref: GARD:6866
has db xref: ICD10CM:Q87.89
has db xref: MESH:D020788
has db xref: MIM:PS209900
has db xref: NCI:C118632
has db xref: ORDO:110
has db xref: SNOMEDCT_US_2023_03_01:5619004
has db xref: UMLS_CUI:C0752166
has OBO namespace: disease_ontology
id: DOID:1935
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Bardet-Biedl syndrome
annotated property: IAO_0000115
annotated target: A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Bardet-Biedl_syndrome
has db xref: url:http://en.wikipedia.org/wiki/Ciliopathy
has db xref: url:http://ghr.nlm.nih.gov/condition/bardet-biedl-syndrome

atherosclerosis
type: Class
subclass of: arteriosclerotic cardiovascular disease
IAO_0000115: An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.
has db xref: EFO:0003914
has db xref: ICD10CM:I70
has db xref: ICD9CM:440
has db xref: MESH:D050197
has db xref: NCI:C35768
has db xref: SNOMEDCT_US_2023_03_01:155414001
has db xref: UMLS_CUI:C0004153
has OBO namespace: disease_ontology
id: DOID:1936
in subset: DO RAD slim
in subset: NCIthesaurus

Axiom
annotated source: atherosclerosis
annotated property: IAO_0000115
annotated target: An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.
type: ECO_0007645
has db xref: url:https://www.mayoclinic.org/diseases-conditions/arteriosclerosis-atherosclerosis/symptoms-causes/syc-20350569
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK507799/

telogen effluvium
type: Class
subclass of: DOID 987
has db xref: ICD10CM:L65.0
has db xref: ICD9CM:704.02
has db xref: NCI:C112200
has db xref: SNOMEDCT_US_2023_03_01:201147004
has db xref: UMLS_CUI:C0263518
has OBO namespace: disease_ontology
id: DOID:1943
in subset: NCIthesaurus

trichomoniasis
type: Class
subclass of: parasitic protozoa infectious disease
IAO_0000115: A parasitic protozoa infectious disease that is caused by singled-celled protozoan parasites Trichomonas vaginalis or Trichomonas tenax, which infect the urogenital tract and mouth respectively.
has alternative id: DOID:10996
has db xref: ICD10CM:A59
has db xref: ICD9CM:131
has db xref: MEDDRA:10044620
has db xref: MESH:D014245
has db xref: NCI:C35720
has db xref: SNOMEDCT_US_2023_03_01:56335008
has db xref: UMLS_CUI:C0040921
has OBO namespace: disease_ontology
has related synonym: trichomonas infection
id: DOID:1947
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: trichomoniasis
annotated property: IAO_0000115
annotated target: A parasitic protozoa infectious disease that is caused by singled-celled protozoan parasites Trichomonas vaginalis or Trichomonas tenax, which infect the urogenital tract and mouth respectively.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Trichomoniasis

cholecystitis
type: Class
subclass of: DOID 9446
IAO_0000115: A cholangitis that is characterized by an inflammation that is located in the gallbladder.
has alternative id: DOID:1948
has alternative id: DOID:2829
has alternative id: DOID:9438
has db xref: GARD:30
has db xref: ICD10CM:K81
has db xref: ICD9CM:575.10
has db xref: MESH:D002764
has db xref: MIM:600803
has db xref: NCI:C34465
has db xref: SNOMEDCT_US_2023_03_01:76581006
has db xref: UMLS_CUI:C0008325
has exact synonym: acute and chronic cholecystitis
has exact synonym: acute cholecystitis
has exact synonym: acute on chronic cholecystitis
has exact synonym: chronic cholecystitis
has OBO namespace: disease_ontology
id: DOID:1949
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: cholecystitis
annotated property: IAO_0000115
annotated target: A cholangitis that is characterized by an inflammation that is located in the gallbladder.
type: ECO_0007638
type: ECO_0007643
has db xref: url:http://en.wikipedia.org/wiki/Cholecystitis
has db xref: url:https://www.merriam-webster.com/dictionary/cholecystitis#medicalDictionary

fallopian tube disease
type: Class
subclass of: reproductive system disease
IAO_0000115: A female reproductive system disease that is located_in the fallopian tube.
has db xref: MESH:D005184
has db xref: NCI:C26771
has db xref: SNOMEDCT_US_2023_03_01:128134005
has db xref: UMLS_CUI:C0015556
has OBO namespace: disease_ontology
id: DOID:1962
in subset: NCIthesaurus

Axiom
annotated source: fallopian tube disease
annotated property: IAO_0000115
annotated target: A female reproductive system disease that is located_in the fallopian tube.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/21415195

fallopian tube carcinoma
type: Class
subclass of: fallopian tube cancer
IAO_0000115: A fallopian tube cancer that is located_in the fallopian tube.
has db xref: MESH:D005185
has db xref: NCI:C3867
has db xref: SNOMEDCT_US_2023_03_01:276870001
has db xref: UMLS_CUI:C0238122
has exact synonym: cancer of the fallopian tube
has exact synonym: carcinoma of fallopian tube
has exact synonym: fallopian tube Ca
has OBO namespace: disease_ontology
id: DOID:1963
in subset: NCIthesaurus

Axiom
annotated source: fallopian tube carcinoma
annotated property: IAO_0000115
annotated target: A fallopian tube cancer that is located_in the fallopian tube.
type: ECO_0007637
type: ECO_0007641
has db xref: url:http://www.cancer.gov/dictionary/?CdrID=45687

fallopian tube cancer
type: Class
subclass of: female reproductive organ cancer
IAO_0000115: A female reproductive organ cancer that is located_in fallopian tube.
has alternative id: DOID:1961
has db xref: GARD:9162
has db xref: ICD10CM:C57.0
has db xref: ICD9CM:183.2
has db xref: MESH:D005185
has db xref: NCI:C3032
has db xref: NCI:C7480
has db xref: SNOMEDCT_US_2023_03_01:126916003
has db xref: SNOMEDCT_US_2023_03_01:93794008
has db xref: UMLS_CUI:C0015558
has db xref: UMLS_CUI:C0153579
has exact synonym: fallopian tube neoplasm
has exact synonym: malignant neoplasm of uterine tube
has exact synonym: malignant tumor of fallopian tube
has exact synonym: malignant tumour of fallopian tube
has exact synonym: neoplasm of fallopian tube
has exact synonym: tumor of the fallopian tube
has exact synonym: tumor, fallopian tube, malignant
has OBO namespace: disease_ontology
id: DOID:1964
in subset: DO rare slim
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim

Axiom
annotated source: fallopian tube cancer
annotated property: IAO_0000115
annotated target: A female reproductive organ cancer that is located_in fallopian tube.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Fallopian_tube_cancer

fallopian tube leiomyosarcoma
type: Class
subclass of: fallopian tube cancer
IAO_0000115: A fallopian tube cancer that dervies_from smooth muscle cells.
has db xref: NCI:C40128
has db xref: UMLS_CUI:C1517116
has OBO namespace: disease_ontology
id: DOID:1965
in subset: NCIthesaurus

Axiom
annotated source: fallopian tube leiomyosarcoma
annotated property: IAO_0000115
annotated target: A fallopian tube cancer that dervies_from smooth muscle cells.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/20191300

leiomyosarcoma
type: Class
subclass of: smooth muscle cancer
IAO_0000115: A smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis.
has db xref: GARD:6880
has db xref: ICDO:8890/3
has db xref: MESH:D007890
has db xref: NCI:C3158
has db xref: SNOMEDCT_US_2023_03_01:443719001
has db xref: UMLS_CUI:C0023269
has exact synonym: Leiomyosarcomas
has OBO namespace: disease_ontology
id: DOID:1967
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: leiomyosarcoma
annotated property: IAO_0000115
annotated target: A smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis.
type: ECO_0007637
type: ECO_0007641
has db xref: url:http://www.cancer.gov/dictionary/?CdrID=46027

cerebral palsy
type: Class
subclass of: DOID 936
IAO_0000115: A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance.
has alternative id: DOID:1968
has db xref: ICD10CM:G80
has db xref: MESH:D002547
has db xref: NCI:C34460
has db xref: SNOMEDCT_US_2023_03_01:155024003
has db xref: UMLS_CUI:C0007789
has exact synonym: infantile cerebral palsy
has OBO namespace: disease_ontology
id: DOID:1969
in subset: DO FlyBase slim
in subset: NCIthesaurus

Axiom
annotated source: cerebral palsy
annotated property: IAO_0000115
annotated target: A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Cerebral_palsy
has db xref: url:http://www.brainandspinalcord.org/cerebral-palsy/index.html
has db xref: url:http://www.cerebralpalsy.org/what-is-cerebral-palsy/

fallopian tube carcinosarcoma
type: Class
subclass of: fallopian tube cancer
IAO_0000115: A fallopian tube cancer that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue.
has db xref: NCI:C40124
has db xref: UMLS_CUI:C1517117
has exact synonym: fallopian tube malignant mixed Mullerian tumor
has exact synonym: fallopian tube malignant mixed mesodermal (mullerian) tumor
has OBO namespace: disease_ontology
id: DOID:1970
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: fallopian tube carcinosarcoma
annotated property: IAO_0000115
annotated target: A fallopian tube cancer that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Carcinosarcoma

fallopian tube adenosarcoma
type: Class
subclass of: fallopian tube carcinosarcoma
IAO_0000115: A fallopian tube carcinoma that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue.
has db xref: NCI:C40125
has db xref: UMLS_CUI:C1517121
has exact synonym: fallopian tube mullerian adenosarcoma
has OBO namespace: disease_ontology
id: DOID:1973
in subset: NCIthesaurus

Axiom
annotated source: fallopian tube adenosarcoma
annotated property: IAO_0000115
annotated target: A fallopian tube carcinoma that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/24557435

adenosarcoma
type: Class
subclass of: carcinosarcoma
IAO_0000115: A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium.
has db xref: ICDO:8933/3
has db xref: MESH:D018195
has db xref: NCI:C9474
has db xref: SNOMEDCT_US_2023_03_01:189804002
has db xref: UMLS_CUI:C0001442
has exact synonym: mullerian Adenosarcoma
has OBO namespace: disease_ontology
id: DOID:1974
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: adenosarcoma
annotated property: IAO_0000115
annotated target: A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Adenosarcoma

thymus lipoma
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: An immune system organ benign neoplasm that is located_in the thymus and derives_from fat cells.
has db xref: NCI:C6452
has db xref: SNOMEDCT_US_2023_03_01:447137005
has db xref: UMLS_CUI:C1336744
has exact synonym: Thymolipoma
has OBO namespace: disease_ontology
id: DOID:1975
in subset: NCIthesaurus

Axiom
annotated source: thymus lipoma
annotated property: IAO_0000115
annotated target: An immune system organ benign neoplasm that is located_in the thymus and derives_from fat cells.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/24736228

rectal benign neoplasm
type: Class
subclass of: DOID 4610
IAO_0000115: An intestinal benign neoplasm located_in the rectum.
has db xref: MESH:D012004
has db xref: NCI:C3350
has db xref: SNOMEDCT_US_2023_03_01:126847008
has db xref: UMLS_CUI:C0034885
has exact synonym: Rectal tumor
has exact synonym: neoplasm of rectum
has exact synonym: rectum neoplasm
has OBO namespace: disease_ontology
id: DOID:1984
in subset: NCIthesaurus

Axiom
annotated source: rectal benign neoplasm
annotated property: IAO_0000115
annotated target: An intestinal benign neoplasm located_in the rectum.
type: ECO_0007646
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK6994/

rectum lymphoma
type: Class
subclass of: rectum cancer
has db xref: NCI:C5553
has db xref: UMLS_CUI:C1335685
has exact synonym: Lymphoma of rectum
has OBO namespace: disease_ontology
id: DOID:1988
in subset: NCIthesaurus

rectum malignant melanoma
type: Class
subclass of: rectum cancer
has db xref: NCI:C4640
has db xref: SNOMEDCT_US_2023_03_01:276822007
has db xref: UMLS_CUI:C0349539
has exact synonym: malignant melanoma of rectum
has exact synonym: melanoma of rectum
has OBO namespace: disease_ontology
id: DOID:1992
in subset: NCIthesaurus

rectum cancer
type: Class
subclass of: DOID 9256
IAO_0000115: A colorectal cancer that is located_in the rectum.
has alternative id: DOID:1989
has db xref: ICD10CM:C20
has db xref: ICD9CM:154.1
has db xref: MESH:D012004
has db xref: NCI:C7418
has db xref: NCI:C9382
has db xref: SNOMEDCT_US_2023_03_01:254582000
has db xref: SNOMEDCT_US_2023_03_01:93984006
has db xref: UMLS_CUI:C0007113
has db xref: UMLS_CUI:C0949022
has exact synonym: carcinoma of rectum
has exact synonym: carcinoma of the rectum
has exact synonym: malignant Rectal tumor
has exact synonym: malignant neoplasm of rectum
has exact synonym: malignant rectum tumor
has exact synonym: malignant tumor of rectum
has exact synonym: rectal cancer
has OBO namespace: disease_ontology
has related synonym: cancer of rectum
id: DOID:1993
in subset: DO cancer slim
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim

Axiom
annotated source: rectum cancer
annotated property: IAO_0000115
annotated target: A colorectal cancer that is located_in the rectum.
type: ECO_0007637
type: ECO_0007641
has db xref: url:http://www.cancer.gov/dictionary?CdrID=529764

rectum sarcoma
type: Class
subclass of: rectum cancer
IAO_0000115: A sarcoma and malignant tumor of rectum that is located_in the rectum.
has db xref: NCI:C5548
has db xref: UMLS_CUI:C1335688
has exact synonym: sarcoma of rectum
has OBO namespace: disease_ontology
id: DOID:1995
in subset: NCIthesaurus

Axiom
annotated source: rectum sarcoma
annotated property: IAO_0000115
annotated target: A sarcoma and malignant tumor of rectum that is located_in the rectum.
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/23712252

rectum adenocarcinoma
type: Class
subclass of: rectum cancer
IAO_0000115: A rectum cancer that derives_from epithelial cells of glandular origin.
has db xref: NCI:C9383
has db xref: SNOMEDCT_US_2023_03_01:254582000
has db xref: UMLS_CUI:C0149978
has exact synonym: Rectal adenocarcinoma
has OBO namespace: disease_ontology
id: DOID:1996
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: rectum adenocarcinoma
annotated property: IAO_0000115
annotated target: A rectum cancer that derives_from epithelial cells of glandular origin.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Adenocarcinoma

benign giant cell tumor
type: Class
subclass of: connective tissue benign neoplasm
has db xref: MESH:D005870
has db xref: NCI:C3055
has db xref: SNOMEDCT_US_2023_03_01:443790001
has db xref: UMLS_CUI:C0017525
has OBO namespace: disease_ontology
id: DOID:200
in subset: NCIthesaurus

neuroma
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A nervous system benign neoplasm that is characterized as a nerve tissue tumor.
has db xref: ICDO:9570/0
has db xref: MESH:D009463
has db xref: NCI:C3275
has db xref: SNOMEDCT_US_2023_03_01:443892003
has db xref: UMLS_CUI:C0027858
has OBO namespace: disease_ontology
id: DOID:2001
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: neuroma
annotated property: IAO_0000115
annotated target: A nervous system benign neoplasm that is characterized as a nerve tissue tumor.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Neuroma

preretinal fibrosis
type: Class
subclass of: DOID 4448
has db xref: ICD9CM:362.56
has db xref: MESH:D019773
has db xref: NCI:C175882
has db xref: SNOMEDCT_US_2023_03_01:193391002
has db xref: UMLS_CUI:C0339543
has exact synonym: Macular puckering of retina
has exact synonym: Macular retinal puckering
has exact synonym: cellophane maculopathy
has OBO namespace: disease_ontology
id: DOID:2006
in subset: NCIthesaurus

placenta cancer
type: Class
subclass of: female reproductive organ cancer
IAO_0000115: A female reproductive organ cancer that is located_in the placenta.
has alternative id: DOID:2023
has db xref: ICD10CM:C58
has db xref: ICD9CM:181
has db xref: NCI:C3555
has db xref: SNOMEDCT_US_2023_03_01:188187004
has db xref: UMLS_CUI:C0153572
has exact synonym: Placental tumors
has exact synonym: malignant Placental tumor
has exact synonym: malignant neoplasm of placenta
has exact synonym: neoplasm of placenta
has exact synonym: placental cancer
has exact synonym: primary malignant neoplasm of placenta
has OBO namespace: disease_ontology
id: DOID:2021
in subset: NCIthesaurus

Axiom
annotated source: placenta cancer
annotated property: IAO_0000115
annotated target: A female reproductive organ cancer that is located_in the placenta.
type: ECO_0007645
has db xref: url:https://www.medstarcancer.org/conditions/gynecologic-cancer/placenta-cancer/
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/26156670,

placental choriocarcinoma
type: Class
subclass of: gestational choriocarcinoma
IAO_0000115: A gestational choriocarcinoma that is located_in the placenta.
has db xref: NCI:C8893
has db xref: SNOMEDCT_US_2023_03_01:448401007
has db xref: UMLS_CUI:C0855173
has exact synonym: Choriocarcinoma of the Placenta
has OBO namespace: disease_ontology
id: DOID:2024
in subset: NCIthesaurus

Axiom
annotated source: placental choriocarcinoma
annotated property: IAO_0000115
annotated target: A gestational choriocarcinoma that is located_in the placenta.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2577684/

gestational choriocarcinoma
type: Class
subclass of: choriocarcinoma
IAO_0000115: A choriocarcinoma that develops in the presence of a preceding gestational event.
has db xref: NCI:C4646
has db xref: SNOMEDCT_US_2023_03_01:1884006
has db xref: UMLS_CUI:C0349557
has exact synonym: Gestational chorionepithelioma
has exact synonym: Molar pregnancy with choriocarcinoma
has OBO namespace: disease_ontology
id: DOID:2025
in subset: NCIthesaurus

Axiom
annotated source: gestational choriocarcinoma
annotated property: IAO_0000115
annotated target: A choriocarcinoma that develops in the presence of a preceding gestational event.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Gestational_choriocarcinoma

exostosis
type: Class
subclass of: hyperostosis
IAO_0000115: A hyperostosis that involves formation of new bone on the surface of preexisting bone.
has db xref: ICD10CM:M27.8
has db xref: ICD9CM:726.91
has db xref: MESH:D005096
has db xref: NCI:C3029
has db xref: SNOMEDCT_US_2023_03_01:80400009
has db xref: UMLS_CUI:C1442903
has exact synonym: bone spur
has exact synonym: bony outgrowth
has exact synonym: orbital exostosis
has exact synonym: osteophyte
has exact synonym: swimmer's exostosis
has OBO namespace: disease_ontology
id: DOID:203
in subset: NCIthesaurus

Axiom
annotated source: exostosis
annotated property: IAO_0000115
annotated target: A hyperostosis that involves formation of new bone on the surface of preexisting bone.
type: ECO_0007638
type: ECO_0007641
has db xref: url:http://en.wikipedia.org/wiki/Exostosis
has db xref: url:http://medical-dictionary.thefreedictionary.com/exostosis

anxiety disorder
type: Class
subclass of: cognitive disorder
IAO_0000115: A cognitive disorder that involves an excessive, irrational dread of everyday situations.
has alternative id: DOID:12884
has db xref: ICD10CM:F41.9
has db xref: MESH:D001008
has db xref: MIM:607834
has db xref: NCI:C2878
has db xref: SNOMEDCT_US_2023_03_01:65673007
has db xref: UMLS_CUI:C0003469
has exact synonym: anxiety
has exact synonym: anxiety state
has OBO namespace: disease_ontology
id: DOID:2030
in subset: DO RAD slim
in subset: NCIthesaurus

Axiom
annotated source: anxiety disorder
annotated property: IAO_0000115
annotated target: A cognitive disorder that involves an excessive, irrational dread of everyday situations.
type: ECO_0007637
has db xref: url:http://www.nimh.nih.gov/health/topics/anxiety-disorders/index.shtml

communication disorder
type: Class
subclass of: disease of mental health
IAO_0000115: A specific developmental disorder that involves specific developmental disorders of speech and language.
has db xref: ICD10CM:F80.9
has db xref: MESH:D003147
has db xref: NCI:C2958
has db xref: SNOMEDCT_US_2023_03_01:74825008
has db xref: UMLS_CUI:C0009460
has OBO namespace: disease_ontology
id: DOID:2033
in subset: NCIthesaurus

Axiom
annotated source: communication disorder
annotated property: IAO_0000115
annotated target: A specific developmental disorder that involves specific developmental disorders of speech and language.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Communication_disorder

encephalomalacia
type: Class
subclass of: DOID 936
IAO_0000115: A brain disease that is characterized by cerebral softening located_in cerebrum has_material_basis_in injured or dead cells of the central nervous system.
has db xref: MESH:D004678
has db xref: NCI:C98920
has db xref: SNOMEDCT_US_2023_03_01:58762006
has db xref: UMLS_CUI:C0014068
has OBO namespace: disease_ontology
id: DOID:2034
in subset: NCIthesaurus

Axiom
annotated source: encephalomalacia
annotated property: IAO_0000115
annotated target: A brain disease that is characterized by cerebral softening located_in cerebrum has_material_basis_in injured or dead cells of the central nervous system.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Cerebral_softening

hepatitis B
type: Class
subclass of: hepatitis
IAO_0000115: A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.
has alternative id: DOID:12591
has alternative id: DOID:12592
has alternative id: DOID:2042
has db xref: EFO:0004197
has db xref: MESH:D006509
has db xref: NCI:C3097
has db xref: SNOMEDCT_US_2023_03_01:66071002
has db xref: UMLS_CUI:C0019163
has exact synonym: chronic hepatitis B
has exact synonym: hepatitis B infection
has OBO namespace: disease_ontology
has related synonym: Serum hepatitis
id: DOID:2043
in subset: DO infectious disease slim
in subset: NCIthesaurus
in subset: sexually transmitted infectious disease

Axiom
annotated source: hepatitis B
annotated property: IAO_0000115
annotated target: A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://www.cdc.gov/hepatitis/Resources/Professionals/PDFs/ABCTable.pdf
has db xref: url:https://www.cdc.gov/hepatitis-b/
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK555945/

autoimmune hepatitis
type: Class
subclass of: disease
IAO_0000115: An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells.
has alternative id: DOID:4745
has db xref: GARD:5871
has db xref: ICD9CM:571.42
has db xref: MESH:D019693
has db xref: NCI:C27778
has db xref: SNOMEDCT_US_2023_03_01:16098491000119109
has db xref: UMLS_CUI:C0241910
has db xref: UMLS_CUI:C1332355
has exact synonym: Autoimmune chronic active hepatitis
has exact synonym: autoimmune hepatitis with centrilobular necrosis
has OBO namespace: disease_ontology
id: DOID:2048
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: autoimmune hepatitis
annotated property: IAO_0000115
annotated target: An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Autoimmune_hepatitis
comment: sn:IEDB

hyperostosis
type: Class
subclass of: DOID 65
IAO_0000115: A bone remodeling disease that results in an abnormal growth of located in bone.
has db xref: ICD10CM:M89.3
has db xref: MESH:D015576
has db xref: NCI:C34712
has db xref: SNOMEDCT_US_2023_03_01:13814009
has db xref: UMLS_CUI:C0020492
has exact synonym: bone hypertrophy
has exact synonym: hypertrophy of bone
has OBO namespace: disease_ontology
id: DOID:205
in subset: NCIthesaurus

Axiom
annotated source: hyperostosis
annotated property: IAO_0000115
annotated target: A bone remodeling disease that results in an abnormal growth of located in bone.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Hyperostosis

maxillary sinusitis
type: Class
subclass of: sinusitis
IAO_0000115: A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache.
has db xref: ICD10CM:J32.0
has db xref: MESH:D015523
has db xref: NCI:C34809
has db xref: SNOMEDCT_US_2023_03_01:275484005
has db xref: UMLS_CUI:C0024959
has OBO namespace: disease_ontology
id: DOID:2051
in subset: NCIthesaurus

Axiom
annotated source: maxillary sinusitis
annotated property: IAO_0000115
annotated target: A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/sinusitis
has db xref: url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html

reactive cutaneous fibrous lesion
type: Class
subclass of: skin disease
has db xref: NCI:C27549
has db xref: UMLS_CUI:C1335666
has OBO namespace: disease_ontology
id: DOID:2053
in subset: NCIthesaurus

post-traumatic stress disorder
type: Class
subclass of: anxiety disorder
IAO_0000115: An anxiety disorder which results from a traumatic experience that results in psychological trauma.
has db xref: ICD10CM:F43.1
has db xref: ICD9CM:309.81
has db xref: MESH:D013313
has db xref: NCI:C3389
has db xref: SNOMEDCT_US_2023_03_01:192415000
has db xref: UMLS_CUI:C0038436
has exact synonym: PTSD
has exact synonym: traumatic neurosis
has OBO namespace: disease_ontology
id: DOID:2055
in subset: NCIthesaurus

Axiom
annotated source: post-traumatic stress disorder
annotated property: IAO_0000115
annotated target: An anxiety disorder which results from a traumatic experience that results in psychological trauma.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Post-traumatic_stress_disorder

Axiom
annotated source: post-traumatic stress disorder
annotated property: hasExactSynonym
annotated target: PTSD
has synonym type: OMO_0003012

chronic mucocutaneous candidiasis
type: Class
subclass of: candidiasis
IAO_0000115: 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.
has alternative id: DOID:2056
has db xref: GARD:12313
has db xref: MESH:D002178
has db xref: MIM:114580
has db xref: MIM:212050
has db xref: MIM:607644
has db xref: MIM:613108
has db xref: MIM:613956
has db xref: MIM:615527
has db xref: MIM:616445
has db xref: NCI:C34444
has db xref: ORDO:1334
has db xref: SNOMEDCT_US_2023_03_01:234568006
has db xref: UMLS_CUI:C0006845
has OBO namespace: disease_ontology
id: DOID:2058
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: chronic mucocutaneous candidiasis
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007637

vulvar disease
type: Class
subclass of: reproductive system disease
IAO_0000115: A female reproductive system disease that is located_in the vulva.
has db xref: MESH:D014845
has db xref: NCI:C27631
has db xref: SNOMEDCT_US_2023_03_01:5089007
has db xref: UMLS_CUI:C0042994
has OBO namespace: disease_ontology
id: DOID:2059
in subset: NCIthesaurus

Axiom
annotated source: vulvar disease
annotated property: IAO_0000115
annotated target: A female reproductive system disease that is located_in the vulva.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Vulvar_disease

hereditary multiple exostoses
type: Class
subclass of: exostosis
IAO_0000115: An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth.
has db xref: ICD10CM:Q78.6
has db xref: MESH:D005097
has db xref: MIM:133700
has db xref: MIM:133701
has db xref: MIM:600209
has db xref: NCI:C5183
has db xref: ORDO:321
has db xref: SNOMEDCT_US_2023_03_01:254044004
has db xref: UMLS_CUI:C0015306
has exact synonym: Multiple congenital exostosis
has exact synonym: Multiple exostosis syndromes
has exact synonym: Osteochondromatosis syndrome
has exact synonym: hereditary multiple exostoses 1
has exact synonym: hereditary multiple exostoses 2
has exact synonym: hereditary multiple exostoses 3
has exact synonym: multiple ostechondromas
has OBO namespace: disease_ontology
id: DOID:206
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: hereditary multiple exostoses
annotated property: IAO_0000115
annotated target: An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007646
has db xref: url:http://atlasgeneticsoncology.org/Kprones/HeredMultExostosID10061.html
has db xref: url:http://en.wikipedia.org/wiki/Hereditary_multiple_exostoses
has db xref: url:http://ghr.nlm.nih.gov/condition/hereditary-multiple-exostoses
has db xref: url:http://www.mheresearchfoundation.org/
has db xref: url:http://www.wheelessonline.com/ortho/multiple_cartilaginous_exostoses_hereditary_exostosis

vulvar nodular hidradenoma
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A vulvar benign neoplasm that is characterized by nodules with cystic foci high in dermis on gross examination and derives_from the sweat gland distal excretory duct. Histologically characterized by nests or lobules of cells resembling eccrine poroma with either clear cytoplasm or prominent squamous metaplasia and lumina lined by cuboidal ductal cells or columnar secretory cells.
has db xref: NCI:C40312
has db xref: UMLS_CUI:C1520091
has OBO namespace: disease_ontology
id: DOID:2060
in subset: NCIthesaurus

Axiom
annotated source: vulvar nodular hidradenoma
annotated property: IAO_0000115
annotated target: A vulvar benign neoplasm that is characterized by nodules with cystic foci high in dermis on gross examination and derives_from the sweat gland distal excretory duct. Histologically characterized by nests or lobules of cells resembling eccrine poroma with either clear cytoplasm or prominent squamous metaplasia and lumina lined by cuboidal ductal cells or columnar secretory cells.
type: ECO_0007637
has db xref: url:http://www.pathologyoutlines.com/topic/skintumornonmelanocyticeccrineacrospiroma.html

vulvar syringoma
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A vulvar benign neoplasm that is characterized by the comma tadpole shaped tail of dilated, cystic eccrine ducts, derives_from the eccrine sweat gland and presents as multiple, small, soft, skin-colored-to-yellowish papules, and has_symptom vulvar discomfort and has_symptom itching.
has db xref: NCI:C40311
has db xref: UMLS_CUI:C1520099
has OBO namespace: disease_ontology
id: DOID:2064
in subset: NCIthesaurus

Axiom
annotated source: vulvar syringoma
annotated property: IAO_0000115
annotated target: A vulvar benign neoplasm that is characterized by the comma tadpole shaped tail of dilated, cystic eccrine ducts, derives_from the eccrine sweat gland and presents as multiple, small, soft, skin-colored-to-yellowish papules, and has_symptom vulvar discomfort and has_symptom itching.
type: ECO_0007638
type: ECO_0007645
has db xref: url:https://en.wikipedia.org/wiki/Syringoma
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2588787/
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4190724/

syringoma
type: Class
subclass of: sweat gland benign neoplasm
has db xref: GARD:10547
has db xref: ICDO:8407/0
has db xref: MESH:D018252
has db xref: MIM:186600
has db xref: NCI:C3761
has db xref: SNOMEDCT_US_2023_03_01:189051001
has db xref: UMLS_CUI:C0206673
has OBO namespace: disease_ontology
id: DOID:2065
in subset: DO rare slim
in subset: NCIthesaurus

vulvar angiokeratoma
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A vulvar benign neoplasm that is characterized by numerous ectatic blood vessels present in the superficial dermis.
has db xref: NCI:C8596
has db xref: SNOMEDCT_US_2023_03_01:402841001
has db xref: UMLS_CUI:C1274281
has exact synonym: Fordyce angiokeratoma of vulva
has OBO namespace: disease_ontology
id: DOID:2066
in subset: NCIthesaurus

Axiom
annotated source: vulvar angiokeratoma
annotated property: IAO_0000115
annotated target: A vulvar benign neoplasm that is characterized by numerous ectatic blood vessels present in the superficial dermis.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228019/

Bartholin's gland benign neoplasm
type: Class
subclass of: organ system benign neoplasm
has db xref: NCI:C6434
has db xref: UMLS_CUI:C0220616
has exact synonym: Bartholin gland neoplasm
has exact synonym: tumor of Bartholin's gland
has OBO namespace: disease_ontology
id: DOID:2068
in subset: NCIthesaurus

vulvar squamous papilloma
type: Class
subclass of: vulvar squamous tumor
has db xref: NCI:C6376
has db xref: UMLS_CUI:C1336982
has OBO namespace: disease_ontology
id: DOID:2071
in subset: NCIthesaurus

vulvar squamous tumor
type: Class
subclass of: vulva cancer
IAO_0000115: A vulva cancer that has_material_basis_in squamous tissue.
has db xref: NCI:C40283
has db xref: UMLS_CUI:C1520097
has OBO namespace: disease_ontology
id: DOID:2072
in subset: NCIthesaurus

Axiom
annotated source: vulvar squamous tumor
annotated property: IAO_0000115
annotated target: A vulva cancer that has_material_basis_in squamous tissue.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/24342664

intestinal perforation
type: Class
subclass of: DOID 5295
has db xref: ICD9CM:569.83
has db xref: MESH:D007416
has db xref: NCI:C39611
has db xref: SNOMEDCT_US_2023_03_01:56905009
has db xref: UMLS_CUI:C0021845
has exact synonym: Perforation of intestine
has OBO namespace: disease_ontology
id: DOID:2074
in subset: NCIthesaurus

minor vestibular glands adenoma
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A vestibular gland benign neoplasm that is located_in the minor vestibular glands and is composed_of epithelial tissue in which tumor cells form glands or glandlike structures.
has db xref: NCI:C40301
has db xref: UMLS_CUI:C1510791
has OBO namespace: disease_ontology
has related synonym: adenoma of minor vestibular glands
id: DOID:2075
in subset: NCIthesaurus

Axiom
annotated source: minor vestibular glands adenoma
annotated property: IAO_0000115
annotated target: A vestibular gland benign neoplasm that is located_in the minor vestibular glands and is composed_of epithelial tissue in which tumor cells form glands or glandlike structures.
type: ECO_0007645
has db xref: url:http://atlasgeneticsoncology.org/Tumors/VulVaginaCarcID5274.html
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/14714720

vulvar glandular tumor
type: Class
subclass of: vulva cancer
IAO_0000115: A vulva cancer that has_material_basis_in glandular tissue.
has db xref: NCI:C40292
has db xref: UMLS_CUI:C1520082
has OBO namespace: disease_ontology
id: DOID:2076
in subset: NCIthesaurus

Axiom
annotated source: vulvar glandular tumor
annotated property: IAO_0000115
annotated target: A vulva cancer that has_material_basis_in glandular tissue.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/24342664

chondroid syringoma of the vulva
type: Class
subclass of: eccrine mixed tumor of skin
has db xref: NCI:C40302
has db xref: UMLS_CUI:C1511091
has OBO namespace: disease_ontology
id: DOID:2078
in subset: NCIthesaurus

eccrine mixed tumor of skin
type: Class
subclass of: eccrine sweat gland neoplasm
has db xref: NCI:C4474
has db xref: SNOMEDCT_US_2023_03_01:254720009
has db xref: UMLS_CUI:C0346026
has exact synonym: Eccrine mixed tumor
has exact synonym: Eccrine mixed tumour
has exact synonym: eccrine mixed tumour of skin
has exact synonym: mixed Eccrine neoplasm of the skin
has OBO namespace: disease_ontology
id: DOID:2079
in subset: NCIthesaurus

vulvar trichoepithelioma
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A vulvar benign neoplasm that derives_from epithelial-mesenchymal origin cells. It is characterized by branching nests of basaloid cells, horn cysts, and abortive hair papillae. The tumors represent benign hamartomas of the pilosebaceous apparatus.
has db xref: NCI:C40314
has db xref: UMLS_CUI:C1520100
has OBO namespace: disease_ontology
id: DOID:2080
in subset: NCIthesaurus

Axiom
annotated source: vulvar trichoepithelioma
annotated property: IAO_0000115
annotated target: A vulvar benign neoplasm that derives_from epithelial-mesenchymal origin cells. It is characterized by branching nests of basaloid cells, horn cysts, and abortive hair papillae. The tumors represent benign hamartomas of the pilosebaceous apparatus.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4236999/

obsolete constipation
type: Class
IAO_0000115: A bowel dysfunction that is characterized by infrequent or difficult evacuation of feces.
has db xref: ICD10CM:K59.0
has db xref: ICD9CM:564.0
has db xref: MESH:D003248
has db xref: NCI:C37930
has db xref: SNOMEDCT_US_2022_03_01:363693003
has db xref: UMLS_CUI:C0009806
has OBO namespace: disease_ontology
id: DOID:2089
in subset: NCIthesaurus
comment: reviewed 10/2022 & determined to be a symptom
deprecated: true

Axiom
annotated source: obsolete constipation
annotated property: IAO_0000115
annotated target: A bowel dysfunction that is characterized by infrequent or difficult evacuation of feces.
type: ECO_0007638
type: ECO_0007645
has db xref: url:https://en.wikipedia.org/wiki/Constipation
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/19647687

transient arthritis
type: Class
subclass of: arthropathy
has db xref: ICD10CM:M12.8
has db xref: ICD9CM:716.4
has db xref: NCI:C35761
has db xref: SNOMEDCT_US_2023_03_01:66191007
has db xref: UMLS_CUI:C0152083
has OBO namespace: disease_ontology
id: DOID:2092
in subset: NCIthesaurus

vulvar melanoma
type: Class
subclass of: vulva cancer
IAO_0000115: A vulva cancer that has_material_basis_in melanocytes.
has db xref: NCI:C40329
has db xref: SNOMEDCT_US_2023_03_01:254896002
has db xref: UMLS_CUI:C0241989
has exact synonym: malignant melanoma of vulva
has OBO namespace: disease_ontology
id: DOID:2093
in subset: NCIthesaurus

Axiom
annotated source: vulvar melanoma
annotated property: IAO_0000115
annotated target: A vulva cancer that has_material_basis_in melanocytes.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5514586/

sweat gland cancer
type: Class
subclass of: skin cancer
has db xref: ICD10CM:C44
has db xref: NCI:C4810
has db xref: SNOMEDCT_US_2023_03_01:255095005
has db xref: UMLS_CUI:C1321904
has exact synonym: malignant neoplasm of sweat gland
has exact synonym: malignant tumor of the Sweat gland
has OBO namespace: disease_ontology
id: DOID:2095
in subset: NCIthesaurus

vulvar sarcoma
type: Class
subclass of: vulva cancer
IAO_0000115: A vulva cancer that has_material_basis_in connective tissue.
has db xref: NCI:C40317
has db xref: SNOMEDCT_US_2023_03_01:254897006
has db xref: UMLS_CUI:C0238525
has exact synonym: sarcoma of vulva
has OBO namespace: disease_ontology
id: DOID:2096
in subset: NCIthesaurus

Axiom
annotated source: vulvar sarcoma
annotated property: IAO_0000115
annotated target: A vulva cancer that has_material_basis_in connective tissue.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/25816393

vulval Paget's disease
type: Class
subclass of: vulva adenocarcinoma
IAO_0000115: A vulva adenocarcinoma that is characterized by distinctive large cells with prominent cytoplasm, referred to as Paget cells and is an intraepithelial neoplasm of epithelial origin expressing apocrine or eccrine glandular-like features.
has db xref: NCI:C4027
has db xref: SNOMEDCT_US_2023_03_01:254898001
has db xref: UMLS_CUI:C1275217
has exact synonym: Paget's disease of vulva
has exact synonym: Vulvar Paget's disease
has exact synonym: vulval Paget disease
has OBO namespace: disease_ontology
id: DOID:2097
in subset: NCIthesaurus

Axiom
annotated source: vulval Paget's disease
annotated property: IAO_0000115
annotated target: A vulva adenocarcinoma that is characterized by distinctive large cells with prominent cytoplasm, referred to as Paget cells and is an intraepithelial neoplasm of epithelial origin expressing apocrine or eccrine glandular-like features.
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/26971063

vulva adenocarcinoma
type: Class
subclass of: vulva carcinoma
IAO_0000115: A vulva carcinoma that derives_from epithelial cells of glandular origin.
has db xref: NCI:C6380
has db xref: UMLS_CUI:C1336975
has exact synonym: adenocarcinoma of Vulva
has OBO namespace: disease_ontology
has related synonym: adenocarcinoma of the vulva
id: DOID:2098
in subset: NCIthesaurus

Axiom
annotated source: vulva adenocarcinoma
annotated property: IAO_0000115
annotated target: A vulva carcinoma that derives_from epithelial cells of glandular origin.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Adenocarcinoma

vulva squamous cell carcinoma
type: Class
subclass of: vulva carcinoma
IAO_0000115: A vulva carcinoma and has_material_basis_in squamous cells and is located_in the epidermis of the vulvar tissue.
has db xref: NCI:C4052
has db xref: SNOMEDCT_US_2023_03_01:254895003
has db xref: UMLS_CUI:C0280856
has exact synonym: Vulvar Epidermoid carcinoma
has exact synonym: vulvar squamous cell carcinoma
has OBO namespace: disease_ontology
has related synonym: squamous cell carcinoma of vulva
id: DOID:2101
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: vulva squamous cell carcinoma
annotated property: IAO_0000115
annotated target: A vulva carcinoma and has_material_basis_in squamous cells and is located_in the epidermis of the vulvar tissue.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma
has db xref: url:http://en.wikipedia.org/wiki/Vulvar_cancer#Squamous_cell_carcinoma

myotonia congenita
type: Class
subclass of: musculoskeletal system disease
IAO_0000115: A muscle tissue disease that is characterized by slow muscle relaxation associated with hyperexcitation of the muscle fibres.
has alternative id: DOID:0080100
has db xref: GARD:12301
has db xref: ICD9CM:359.22
has db xref: MESH:D009224
has db xref: NCI:C84912
has db xref: ORDO:614
has db xref: UMLS_CUI:C0027127
has exact synonym: Batten Turner congenital myopathy
has exact synonym: Thomsen and Becker disease
has OBO namespace: disease_ontology
id: DOID:2106
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: myotonia congenita
annotated property: IAO_0000115
annotated target: A muscle tissue disease that is characterized by slow muscle relaxation associated with hyperexcitation of the muscle fibres.
type: ECO_0007636
has db xref: url:http://rarediseases.org/rare-diseases/myotonia-congenita/
has db xref: url:http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=614
has db xref: url:https://medlineplus.gov/genetics/condition/myotonia-congenita/

cystoisosporiasis
type: Class
subclass of: coccidiosis
IAO_0000115: A coccidiosis that involves infection of the epithelial cells of the small intestine with Cystoisospora belli, which results in nonbloody diarrhea with crampy abdominal pain, malabsorption and weight loss.
has alternative id: DOID:4891
has db xref: ICD10CM:A07.3
has db xref: MESH:D021865
has db xref: NCI:C4076
has db xref: SNOMEDCT_US_2023_03_01:73034009
has db xref: UMLS_CUI:C0311386
has exact synonym: Infection by Isospora belli and Isospora hominis
has exact synonym: Isosporosis
has exact synonym: isosporiasis
has OBO namespace: disease_ontology
id: DOID:2112
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: cystoisosporiasis
annotated property: IAO_0000115
annotated target: A coccidiosis that involves infection of the epithelial cells of the small intestine with Cystoisospora belli, which results in nonbloody diarrhea with crampy abdominal pain, malabsorption and weight loss.
type: ECO_0007637
has db xref: url:http://www.dpd.cdc.gov/DPDx/HTML/Cystoisosporiasis.htm

coccidiosis
type: Class
subclass of: parasitic protozoa infectious disease
IAO_0000115: A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection.
has db xref: MESH:D003048
has db xref: NCI:C34493
has db xref: SNOMEDCT_US_2023_03_01:186125004
has db xref: UMLS_CUI:C0009187
has OBO namespace: disease_ontology
has related synonym: intestinal coccidiosis
id: DOID:2113
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: coccidiosis
annotated property: IAO_0000115
annotated target: A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Coccidiosis

focal dermal hypoplasia
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized at birth by streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases, and has_material_basis_in heterozygous mutation in the PORCN gene on chromosome Xp11.23.
has db xref: GARD:6457
has db xref: MESH:D005489
has db xref: MIM:305600
has db xref: NCI:C84715
has db xref: ORDO:2092
has db xref: SNOMEDCT_US_2023_03_01:205573006
has db xref: UMLS_CUI:C0016395
has exact synonym: FDH
has exact synonym: FODH
has exact synonym: Goltz syndrome
has exact synonym: Goltz-Gorlin syndrome
has OBO namespace: disease_ontology
id: DOID:2120
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: focal dermal hypoplasia
annotated property: IAO_0000115
annotated target: A syndrome characterized at birth by streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases, and has_material_basis_in heterozygous mutation in the PORCN gene on chromosome Xp11.23.
type: ECO_0007637
has db xref: url:https://rarediseases.info.nih.gov/diseases/6457/disease

Axiom
annotated source: focal dermal hypoplasia
annotated property: hasExactSynonym
annotated target: FDH
has synonym type: OMO_0003012

Axiom
annotated source: focal dermal hypoplasia
annotated property: hasExactSynonym
annotated target: FODH
has synonym type: OMO_0003012

ectodermal dysplasia
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.
has db xref: GARD:6317
has db xref: ICD9CM:757.31
has db xref: MESH:D004476
has db xref: MIM:PS305100
has db xref: NCI:C84683
has db xref: ORDO:79373
has db xref: SNOMEDCT_US_2023_03_01:8654005
has db xref: UMLS_CUI:C0013575
has exact synonym: Congenital ectodermal defect
has exact synonym: Congenital ectodermal dysplasia
has OBO namespace: disease_ontology
id: DOID:2121
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: ectodermal dysplasia
annotated property: IAO_0000115
annotated target: A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Ectodermal_dysplasia
has db xref: url:https://medlineplus.gov/ency/article/001469.htm

brain germinoma
type: Class
subclass of: brain cancer
IAO_0000115: A brain cancer that is characterized by abnormally proliferating cells, derives_from germ cells.
has db xref: NCI:C6284
has db xref: UMLS_CUI:C1332606
has exact synonym: germinoma of the brain
has exact synonym: intracranial germinoma
has OBO namespace: disease_ontology
id: DOID:2127
in subset: NCIthesaurus

Axiom
annotated source: brain germinoma
annotated property: IAO_0000115
annotated target: A brain cancer that is characterized by abnormally proliferating cells, derives_from germ cells.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Germinoma

atypical teratoid rhabdoid tumor
type: Class
subclass of: brain cancer
IAO_0000115: A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system.
has db xref: ICDO:9508/3
has db xref: NCI:C6906
has db xref: ORDO:99966
has db xref: SNOMEDCT_US_2023_03_01:128792003
has db xref: UMLS_CUI:C1266184
has exact synonym: AT/RT
has exact synonym: ATRT
has exact synonym: Atypical teratoid/rhabdoid tumor
has exact synonym: Atypical teratoid/rhabdoid tumour
has exact synonym: Rhabdoid tumor of the CNS
has exact synonym: Rhabdoid tumour of the CNS
has exact synonym: atypical teratoid rhabdoid tumour
has OBO namespace: disease_ontology
id: DOID:2129
in subset: DO FlyBase slim
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus
related match: MIM:609322

Axiom
annotated source: atypical teratoid rhabdoid tumor
annotated property: IAO_0000115
annotated target: A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Atypical_teratoid_rhabdoid_tumor

Axiom
annotated source: atypical teratoid rhabdoid tumor
annotated property: hasExactSynonym
annotated target: AT/RT
has synonym type: OMO_0003012

Axiom
annotated source: atypical teratoid rhabdoid tumor
annotated property: hasExactSynonym
annotated target: ATRT
has synonym type: OMO_0003012

brain sarcoma
type: Class
subclass of: brain cancer
IAO_0000115: A brain cancer that is characterized by abnormally proliferating cells, derives_from embryonic mesoderm.
has db xref: NCI:C5154
has db xref: UMLS_CUI:C1332607
has exact synonym: sarcoma of the brain
has OBO namespace: disease_ontology
id: DOID:2132
in subset: NCIthesaurus

Axiom
annotated source: brain sarcoma
annotated property: IAO_0000115
annotated target: A brain cancer that is characterized by abnormally proliferating cells, derives_from embryonic mesoderm.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/12170093

central nervous system sarcoma
type: Class
subclass of: central nervous system cancer
IAO_0000115: A central nervous system cancer develops from transformed cells of mesenchymal origin located_in brain and spine, has_material_basis_in abnormally proliferating cells derives_from mesoderm.
has db xref: NCI:C5153
has db xref: UMLS_CUI:C1332892
has exact synonym: sarcoma of the CNS
has OBO namespace: disease_ontology
id: DOID:2133
in subset: NCIthesaurus

Axiom
annotated source: central nervous system sarcoma
annotated property: IAO_0000115
annotated target: A central nervous system cancer develops from transformed cells of mesenchymal origin located_in brain and spine, has_material_basis_in abnormally proliferating cells derives_from mesoderm.
type: ECO_0007638
type: ECO_0007645
has db xref: url:https://en.wikipedia.org/wiki/Sarcoma
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/12170093

temporal lobe neoplasm
type: Class
subclass of: cerebrum cancer
has alternative id: DOID:2134
has db xref: ICD10CM:C71.2
has db xref: ICD9CM:191.2
has db xref: NCI:C5567
has db xref: SNOMEDCT_US_2023_03_01:126955002
has db xref: SNOMEDCT_US_2023_03_01:94086000
has db xref: UMLS_CUI:C0153636
has db xref: UMLS_CUI:C1263887
has exact synonym: malignant neoplasm of temporal lobe
has exact synonym: neoplasm of temporal lobe
has exact synonym: tumor of Temporal Lobe
has OBO namespace: disease_ontology
id: DOID:2135
in subset: NCIthesaurus

urethral urothelial papilloma
type: Class
subclass of: DOID 730
has db xref: NCI:C5061
has db xref: UMLS_CUI:C1519826
has OBO namespace: disease_ontology
id: DOID:2140
in subset: NCIthesaurus

urethra leiomyoma
type: Class
subclass of: DOID 730
IAO_0000115: An urethral benign neoplasm that derives_from smooth muscle cells.
has db xref: NCI:C6171
has db xref: UMLS_CUI:C1336888
has exact synonym: leiomyoma of the urethra
has OBO namespace: disease_ontology
id: DOID:2142
in subset: NCIthesaurus

Axiom
annotated source: urethra leiomyoma
annotated property: IAO_0000115
annotated target: An urethral benign neoplasm that derives_from smooth muscle cells.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5141528/

ovarian malignant mesothelioma
type: Class
subclass of: ovarian cancer
IAO_0000115: An ovarian cancer that derives_from mesothelial tissue.
has db xref: NCI:C40444
has db xref: UMLS_CUI:C1518721
has OBO namespace: disease_ontology
id: DOID:2143
in subset: NCIthesaurus

Axiom
annotated source: ovarian malignant mesothelioma
annotated property: IAO_0000115
annotated target: An ovarian cancer that derives_from mesothelial tissue.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/8764743

malignant ovarian cyst
type: Class
subclass of: ovarian cancer
IAO_0000115: An ovarian cancer that is characterized by cystic structure.
has db xref: NCI:C3843
has db xref: UMLS_CUI:C0235770
has OBO namespace: disease_ontology
id: DOID:2145
in subset: NCIthesaurus

Axiom
annotated source: malignant ovarian cyst
annotated property: IAO_0000115
annotated target: An ovarian cancer that is characterized by cystic structure.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/23627408

ovary sarcoma
type: Class
subclass of: ovarian cancer
IAO_0000115: An ovarian cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm.
has db xref: NCI:C8267
has db xref: SNOMEDCT_US_2023_03_01:423627007
has db xref: UMLS_CUI:C0280746
has exact synonym: sarcoma of Ovary
has OBO namespace: disease_ontology
id: DOID:2146
in subset: NCIthesaurus

Axiom
annotated source: ovary sarcoma
annotated property: IAO_0000115
annotated target: An ovarian cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/21740740

ovarian lymphoma
type: Class
subclass of: ovarian cancer
IAO_0000115: An ovarian cancer that arises_from lymphocytes.
has db xref: NCI:C40021
has db xref: UMLS_CUI:C1518720
has OBO namespace: disease_ontology
id: DOID:2150
in subset: NCIthesaurus

Axiom
annotated source: ovarian lymphoma
annotated property: IAO_0000115
annotated target: An ovarian cancer that arises_from lymphocytes.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/23905454

malignant ovarian surface epithelial-stromal neoplasm
type: Class
subclass of: ovary epithelial cancer
IAO_0000115: An ovary epithelial cancer that has_material_basis_in epithelial and stromal tissue and arises from the surface epithelium of the ovary.
has db xref: NCI:C40026
has db xref: UMLS_CUI:C1518236
has OBO namespace: disease_ontology
id: DOID:2151
in subset: NCIthesaurus

Axiom
annotated source: malignant ovarian surface epithelial-stromal neoplasm
annotated property: IAO_0000115
annotated target: An ovary epithelial cancer that has_material_basis_in epithelial and stromal tissue and arises from the surface epithelium of the ovary.
type: ECO_0007645
has db xref: url:https://www.sciencedirect.com/science/article/pii/0046817791902054

ovary epithelial cancer
type: Class
subclass of: ovarian cancer
IAO_0000115: An ovarian cancer that is derives_from ovarian surface epithelium.
has db xref: NCI:C4381
has db xref: SNOMEDCT_US_2023_03_01:237057005
has db xref: UMLS_CUI:C0341823
has exact synonym: Ovarian Surface epithelial-Stromal tumor
has OBO namespace: disease_ontology
id: DOID:2152
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: ovary epithelial cancer
annotated property: IAO_0000115
annotated target: An ovarian cancer that is derives_from ovarian surface epithelium.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Ovarian_cancer
has db xref: url:http://en.wikipedia.org/wiki/Surface_epithelial-stromal_tumor

ovarian Wilms' cancer
type: Class
subclass of: ovarian cancer
IAO_0000115: A malignant neoplasm of ovary and nephroblastoma that is located_in the ovaries.
has db xref: NCI:C40443
has db xref: UMLS_CUI:C1518746
has OBO namespace: disease_ontology
has related synonym: ovarian Wilms' tumor
id: DOID:2153
in subset: NCIthesaurus

Axiom
annotated source: ovarian Wilms' cancer
annotated property: IAO_0000115
annotated target: A malignant neoplasm of ovary and nephroblastoma that is located_in the ovaries.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/18260155

nephroblastoma
type: Class
subclass of: kidney cancer
IAO_0000115: A kidney cancer that affects the kidneys and typically occuring in children.
has alternative id: DOID:5177
has alternative id: DOID:5180
has db xref: ICDO:8960/3
has db xref: MESH:D009396
has db xref: MIM:194070
has db xref: NCI:C27730
has db xref: NCI:C3267
has db xref: NCI:C6180
has db xref: SNOMEDCT_US_2023_03_01:25081006
has db xref: UMLS_CUI:C0027708
has db xref: UMLS_CUI:C1332219
has db xref: UMLS_CUI:C1333015
has exact synonym: adult nephroblastoma
has OBO namespace: disease_ontology
has related synonym: Wilms' tumor
id: DOID:2154
in subset: DO cancer slim
in subset: DO childhood cancer slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: nephroblastoma
annotated property: IAO_0000115
annotated target: A kidney cancer that affects the kidneys and typically occuring in children.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Wilms%27_tumor

malignant ovarian germ cell neoplasm
type: Class
subclass of: ovarian germ cell cancer
has db xref: MESH:C562841
has db xref: NCI:C4514
has db xref: SNOMEDCT_US_2023_03_01:254869000
has db xref: UMLS_CUI:C0346180
has exact synonym: malignant Ovarian germ cell tumor
has exact synonym: malignant germ cell tumor of ovary
has OBO namespace: disease_ontology
id: DOID:2155
in subset: NCIthesaurus

ovarian germ cell cancer
type: Class
subclass of: ovarian cancer
IAO_0000115: An ovarian cancer that originates in the germ (egg) cells of the ovary.
has db xref: GARD:9330
has db xref: MIM:603737
has db xref: NCI:C3873
has db xref: SNOMEDCT_US_2023_03_01:237059008
has db xref: UMLS_CUI:C0238324
has exact synonym: germ cell neoplasm of Ovary
has exact synonym: germ cell tumor of ovary
has OBO namespace: disease_ontology
has related synonym: ovarian germ cell tumor
id: DOID:2156
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: ovarian germ cell cancer
annotated property: IAO_0000115
annotated target: An ovarian cancer that originates in the germ (egg) cells of the ovary.
type: ECO_0007637
has db xref: url:http://www.cancer.gov/cancertopics/pdq/treatment/ovarian-germ-cell/Patient

dental caries
type: Class
subclass of: mouth disease
IAO_0000115: A teeth hard tissue disease that is characterized by damage to a tooth that can happen when decay-causing bacteria in your mouth make acids that attack the tooth’s surface, or enamel.
has alternative id: DOID:10785
has alternative id: DOID:10870
has alternative id: DOID:11913
has db xref: EFO:0003819
has db xref: ICD10CM:K02
has db xref: ICD10CM:K02.6
has db xref: ICD9CM:521.0
has db xref: ICD9CM:521.07
has db xref: MESH:D003731
has db xref: NCI:C52593
has db xref: SNOMEDCT_US_2023_03_01:155632007
has db xref: UMLS_CUI:C0011334
has db xref: UMLS_CUI:C1456145
has exact synonym: Dental caries extending into pulp
has exact synonym: Dental caries of smooth surface
has exact synonym: Dental caries pit and fissure
has OBO namespace: disease_ontology
id: DOID:216
in subset: NCIthesaurus

Axiom
annotated source: dental caries
annotated property: IAO_0000115
annotated target: A teeth hard tissue disease that is characterized by damage to a tooth that can happen when decay-causing bacteria in your mouth make acids that attack the tooth’s surface, or enamel.
has db xref: url:https://www.nidcr.nih.gov/health-info/tooth-decay

nasal cavity disease
type: Class
subclass of: disease
has alternative id: DOID:4728
has db xref: NCI:C27102
has db xref: SNOMEDCT_US_2023_03_01:232340005
has db xref: UMLS_CUI:C0339820
has OBO namespace: disease_ontology
id: DOID:2163
in subset: NCIthesaurus

vaginitis
type: Class
subclass of: vaginal disease
IAO_0000115: A vaginal disease that is characterized by inflammation of the vagina.
has alternative id: DOID:10769
has db xref: ICD9CM:616.1
has db xref: MESH:D014627
has db xref: NCI:C26911
has db xref: SNOMEDCT_US_2023_03_01:198212006
has db xref: SNOMEDCT_US_2023_03_01:393596009
has db xref: UMLS_CUI:C0042267
has db xref: UMLS_CUI:C0042268
has OBO namespace: disease_ontology
id: DOID:2170
in subset: NCIthesaurus

Axiom
annotated source: vaginitis
annotated property: IAO_0000115
annotated target: A vaginal disease that is characterized by inflammation of the vagina.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/21524046

eyelid benign neoplasm
type: Class
subclass of: skin benign neoplasm
has db xref: MESH:D005142
has db xref: NCI:C3031
has db xref: SNOMEDCT_US_2023_03_01:278697001
has db xref: UMLS_CUI:C0015424
has exact synonym: tumor of the eyelid
has OBO namespace: disease_ontology
id: DOID:2173
in subset: NCIthesaurus

ocular cancer
type: Class
subclass of: nervous system cancer
IAO_0000115: A sensory system cancer located_in the eye that is characterized by uncontrolled cellular proliferation in the eye.
has alternative id: DOID:9985
has db xref: ICD9CM:190.8
has db xref: MESH:D005134
has db xref: NCI:C3030
has db xref: SNOMEDCT_US_2023_03_01:126995000
has db xref: SNOMEDCT_US_2023_03_01:188277006
has db xref: UMLS_CUI:C0015414
has db xref: UMLS_CUI:C0153632
has exact synonym: Ocular tumor
has exact synonym: eye neoplasm
has exact synonym: malignant eye neoplasm
has exact synonym: neoplasm of eye
has exact synonym: neoplasm of eye proper
has OBO namespace: disease_ontology
id: DOID:2174
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim

Axiom
annotated source: ocular cancer
annotated property: IAO_0000115
annotated target: A sensory system cancer located_in the eye that is characterized by uncontrolled cellular proliferation in the eye.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Eye
has db xref: url:http://en.wikipedia.org/wiki/Eye_neoplasm

colon cancer
type: Class
subclass of: DOID 9256
IAO_0000115: A colorectal cancer that is located_in the colon.
has db xref: ICD10CM:C18
has db xref: ICD9CM:153
has db xref: MESH:D003110
has db xref: NCI:C9242
has db xref: SNOMEDCT_US_2023_03_01:363406005
has db xref: UMLS_CUI:C0007102
has OBO namespace: disease_ontology
id: DOID:219
in subset: DO cancer slim
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim

Axiom
annotated source: colon cancer
annotated property: IAO_0000115
annotated target: A colorectal cancer that is located_in the colon.
type: ECO_0007637
type: ECO_0007641
has db xref: url:http://www.cancer.gov/dictionary?CdrID=44237
has db xref: url:https://www.genome.gov/Genetic-Disorders/Colon-Cancer

factor XIII deficiency
type: Class
subclass of: blood coagulation disease
IAO_0000115: A blood coagulation disease that is characterized by easy bleeding, has_symptom prolonged umbilical cord bleeding, epistaxis, bleeding of the gums, menorrhagia, recurrent miscarriages, abnormal scar formation and wound healing, and hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation of the F13A1 or F13B gene, which encodes Factor XIII, formally known as fibrin stabilizing factor.
has db xref: GARD:10766
has db xref: MESH:D005177
has db xref: MIM:613225
has db xref: MIM:613235
has db xref: NCI:C98941
has db xref: SNOMEDCT_US_2023_03_01:50189006
has db xref: UMLS_CUI:C0015530
has exact synonym: Factor XIII deficiency disease
has exact synonym: Hereditary factor XIII deficiency disease
has exact synonym: deficiency, Laki-Lorand factor
has OBO namespace: disease_ontology
id: DOID:2211
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: factor XIII deficiency
annotated property: IAO_0000115
annotated target: A blood coagulation disease that is characterized by easy bleeding, has_symptom prolonged umbilical cord bleeding, epistaxis, bleeding of the gums, menorrhagia, recurrent miscarriages, abnormal scar formation and wound healing, and hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation of the F13A1 or F13B gene, which encodes Factor XIII, formally known as fibrin stabilizing factor.
type: ECO_0007636
type: ECO_0007637
has db xref: url:http://omim.org/entry/613225
has db xref: url:http://omim.org/entry/613235
has db xref: url:https://ghr.nlm.nih.gov/condition/factor-xiii-deficiency#inheritance

factor VII deficiency
type: Class
subclass of: blood coagulation disease
IAO_0000115: A blood coagulation disease that is characterized by easy bleeding, has_symptom epistaxis, bleeding of the gums, menorrhagia, and occasionally hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation in the F7 gene, which encodes coagulation factor VII, an important factor in the clotting cascade.
has db xref: GARD:2238
has db xref: ICD10CM:D68.2
has db xref: MESH:D005168
has db xref: MIM:227500
has db xref: NCI:C131631
has db xref: ORDO:327
has db xref: SNOMEDCT_US_2023_03_01:154820003
has db xref: UMLS_CUI:C0015503
has exact synonym: deficiency, stable
has OBO namespace: disease_ontology
id: DOID:2215
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: factor VII deficiency
annotated property: IAO_0000115
annotated target: A blood coagulation disease that is characterized by easy bleeding, has_symptom epistaxis, bleeding of the gums, menorrhagia, and occasionally hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation in the F7 gene, which encodes coagulation factor VII, an important factor in the clotting cascade.
type: ECO_0007636
type: ECO_0007637
has db xref: url:http://omim.org/entry/227500
has db xref: url:https://ghr.nlm.nih.gov/condition/factor-vii-deficiency#genes

factor V deficiency
type: Class
subclass of: blood coagulation disease
has db xref: GARD:2237
has db xref: ICD10CM:D68.2
has db xref: MESH:D005166
has db xref: MIM:227400
has db xref: NCI:C98938
has db xref: SNOMEDCT_US_2023_03_01:191284007
has db xref: UMLS_CUI:C0015499
has exact synonym: Hereditary hypoproaccelerinaemia
has exact synonym: Labile factor deficiency
has exact synonym: Proaccelerin deficiency
has exact synonym: deficiency, labile
has OBO namespace: disease_ontology
id: DOID:2216
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Bernard-Soulier syndrome
type: Class
subclass of: blood coagulation disease
IAO_0000115: A blood coagulation disease characterized by autosomal recessive inheritance of mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia with prolonged bleeding times, enlarged platelets and absence of platelet aggregation in response to von Willebrand factor that has_material_basis_in mutation in the GP1BA gene, the GP1BB gene, or the GP9 gene which are subunits of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib.
has db xref: MESH:D001606
has db xref: MIM:231200
has db xref: NCI:C84595
has db xref: ORDO:274
has db xref: SNOMEDCT_US_2023_03_01:54569005
has db xref: UMLS_CUI:C0005129
has exact synonym: Bernard - Soulier thrombopathy
has exact synonym: Bernard Soulier syndrome
has exact synonym: Giant platelet syndrome
has exact synonym: Hemorrhagic dystrophic thrombocytopenia
has exact synonym: Thrombopathy, Bernard-Soulier
has OBO namespace: disease_ontology
id: DOID:2217
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Bernard-Soulier syndrome
annotated property: IAO_0000115
annotated target: A blood coagulation disease characterized by autosomal recessive inheritance of mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia with prolonged bleeding times, enlarged platelets and absence of platelet aggregation in response to von Willebrand factor that has_material_basis_in mutation in the GP1BA gene, the GP1BB gene, or the GP9 gene which are subunits of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/10706630
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/8481514
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/8703016
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/9616133

blood platelet disease
type: Class
subclass of: blood coagulation disease
IAO_0000115: A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction.
has db xref: MESH:D001791
has db xref: NCI:C131634
has db xref: SNOMEDCT_US_2023_03_01:22716005
has db xref: UMLS_CUI:C0005818
has exact synonym: Thrombocytopathy
has exact synonym: platelet disorder
has OBO namespace: disease_ontology
id: DOID:2218
in subset: NCIthesaurus

Axiom
annotated source: blood platelet disease
annotated property: IAO_0000115
annotated target: A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction.
has db xref: url:https://www.merckmanuals.com/home/blood-disorders/platelet-disorders/overview-of-platelet-disorders

Glanzmann's thrombasthenia
type: Class
subclass of: blood coagulation disease
IAO_0000115: A blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has_material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32.
has db xref: GARD:2478
has db xref: ICD10CM:D69.1
has db xref: MESH:D013915
has db xref: MIM:273800
has db xref: NCI:C61249
has db xref: ORDO:849
has db xref: SNOMEDCT_US_2023_03_01:32942005
has db xref: UMLS_CUI:C0040015
has exact synonym: BDPLT2
has exact synonym: Glanzmann thrombasthenia
has exact synonym: Glycoprotein IIb/IIIa defect
has exact synonym: Thrombocytasthenia
has exact synonym: deficiency of GP IIb-IIIa complex
has exact synonym: deficiency of glycoprotein complex IIb-IIIa
has exact synonym: deficiency of platelet fibrinogen receptor
has exact synonym: platelet glycoprotein IIb-IIIa deficiency
has exact synonym: platelet-type bleeding disorder 2
has exact synonym: thrombasthenia of Glanzmann and Naegeli
has OBO namespace: disease_ontology
id: DOID:2219
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: Glanzmann's thrombasthenia
annotated property: IAO_0000115
annotated target: A blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has_material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/16463284
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/2014236
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/9160670

Axiom
annotated source: Glanzmann's thrombasthenia
annotated property: hasExactSynonym
annotated target: BDPLT2
has synonym type: OMO_0003012

factor X deficiency
type: Class
subclass of: blood coagulation disease
IAO_0000115: A blood coagulation disease that is characterized by the partial or complete absence of factor X activity in the blood.
has db xref: GARD:6404
has db xref: MESH:D005171
has db xref: MIM:227600
has db xref: NCI:C131632
has db xref: ORDO:328
has db xref: SNOMEDCT_US_2023_03_01:76642003
has db xref: UMLS_CUI:C0015519
has exact synonym: disease, Stuart-Prower
has OBO namespace: disease_ontology
id: DOID:2222
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: factor X deficiency
annotated property: IAO_0000115
annotated target: A blood coagulation disease that is characterized by the partial or complete absence of factor X activity in the blood.
has db xref: url:https://rarediseases.org/rare-diseases/factor-x-deficiency/

essential thrombocythemia
type: Class
subclass of: myeloproliferative neoplasm
IAO_0000115: A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets.
has db xref: GARD:6594
has db xref: ICD10CM:D47.3
has db xref: ICD9CM:238.71
has db xref: ICDO:9962/3
has db xref: MESH:D013920
has db xref: MIM:187950
has db xref: MIM:601977
has db xref: MIM:614521
has db xref: NCI:C3407
has db xref: ORDO:3318
has db xref: ORDO:71493
has db xref: SNOMEDCT_US_2023_03_01:234499005
has db xref: UMLS_CUI:C0040028
has exact synonym: Essential thrombocythaemia
has exact synonym: familial thrombocytosis
has exact synonym: hemorrhagic thrombocythemia
has exact synonym: hereditary thrombocythemia
has exact synonym: primary Thrombocytosis
has OBO namespace: disease_ontology
id: DOID:2224
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: essential thrombocythemia
annotated property: IAO_0000115
annotated target: A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets.
type: ECO_0007637
has db xref: url:http://www.webmd.com/a-to-z-guides/thrombocythemia-essential

myeloproliferative neoplasm
type: Class
subclass of: hematologic cancer
IAO_0000115: A myeloid neoplasm 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.
has alternative id: DOID:6002
has db xref: ICD10CM:D47.1
has db xref: ICDO:9960/3
has db xref: NCI:C4345
has db xref: SNOMEDCT_US_2023_03_01:115248004
has db xref: UMLS_CUI:C1292778
has exact synonym: CMPD
has exact synonym: CMPD, U
has exact synonym: chronic myeloproliferative disease
has OBO namespace: disease_ontology
id: DOID:2226
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: myeloproliferative neoplasm
annotated property: IAO_0000115
annotated target: A myeloid neoplasm 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.
type: ECO_0007637
type: ECO_0007645
has db xref: url:http://www.bloodjournal.org/content/114/5/937.long
has db xref: url:http://www.cancer.gov/cancertopics/types/myeloproliferative

Axiom
annotated source: myeloproliferative neoplasm
annotated property: hasExactSynonym
annotated target: CMPD
has synonym type: OMO_0003012

Axiom
annotated source: myeloproliferative neoplasm
annotated property: hasExactSynonym
annotated target: CMPD, U
has synonym type: OMO_0003012

thrombocytosis
type: Class
subclass of: blood platelet disease
IAO_0000115: A blood platelet disease that is characterized by the presence of high platelet counts in the blood.
has db xref: ICD10CM:D75.83
has db xref: MESH:D013922
has db xref: NCI:C35530
has db xref: SNOMEDCT_US_2023_03_01:165557006
has db xref: UMLS_CUI:C0836924
has exact synonym: Thrombocythaemia
has OBO namespace: disease_ontology
id: DOID:2228
in subset: NCIthesaurus

Axiom
annotated source: thrombocytosis
annotated property: IAO_0000115
annotated target: A blood platelet disease that is characterized by the presence of high platelet counts in the blood.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Thrombocytosis
has db xref: url:http://my.clevelandclinic.org/disorders/thrombocytosis/hic_thrombocytosis.aspx

factor XI deficiency
type: Class
subclass of: blood coagulation disease
IAO_0000115: A hemophilia that is characterized by deficiency of factor XI clotting factor and mild prolonged bleeding, especially of mucosal sites following trauma, and has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation of the coagulation factor XI gene of chromosome 4q35.2.
has db xref: GARD:9670
has db xref: ICD10CM:D68.1
has db xref: ICD9CM:286.2
has db xref: MESH:D005173
has db xref: MIM:612416
has db xref: NCI:C84705
has db xref: SNOMEDCT_US_2023_03_01:49762007
has db xref: UMLS_CUI:C0015523
has exact synonym: Congenital factor XI deficiency
has exact synonym: Hereditary factor XI deficiency disease
has exact synonym: Rosenthal's disease
has exact synonym: hemophilia C
has exact synonym: plasma thromboplastin antecedent deficiency
has OBO namespace: disease_ontology
id: DOID:2229
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: factor XI deficiency
annotated property: IAO_0000115
annotated target: A hemophilia that is characterized by deficiency of factor XI clotting factor and mild prolonged bleeding, especially of mucosal sites following trauma, and has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation of the coagulation factor XI gene of chromosome 4q35.2.
type: ECO_0007636
type: ECO_0007637
has db xref: url:https://ghr.nlm.nih.gov/condition/factor-xi-deficiency
has db xref: url:https://www.omim.org/entry/612416

basilar artery insufficiency
type: Class
subclass of: transient cerebral ischemia
has db xref: ICD9CM:435.0
has db xref: MESH:D014715
has db xref: NCI:C34413
has db xref: SNOMEDCT_US_2023_03_01:195197005
has db xref: UMLS_CUI:C0004812
has exact synonym: Basilar artery syndrome
has OBO namespace: disease_ontology
id: DOID:223
in subset: NCIthesaurus

factor XII deficiency
type: Class
subclass of: blood coagulation disease
IAO_0000115: A blood coagulation disease that is characterized by prolonged PTT time without clinical symptoms, and has_material_basis_in a mutation in the F12 gene on chromosome 5q33.
has db xref: GARD:6558
has db xref: MESH:D005175
has db xref: MIM:234000
has db xref: NCI:C131740
has db xref: ORDO:330
has db xref: SNOMEDCT_US_2023_03_01:46981006
has db xref: UMLS_CUI:C0015526
has exact synonym: Factor XII deficiency disease
has exact synonym: Hageman Factor deficiency
has exact synonym: deficiency, Hageman
has OBO namespace: disease_ontology
id: DOID:2231
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: factor XII deficiency
annotated property: IAO_0000115
annotated target: A blood coagulation disease that is characterized by prolonged PTT time without clinical symptoms, and has_material_basis_in a mutation in the F12 gene on chromosome 5q33.
type: ECO_0007636
has db xref: url:http://omim.org/entry/234000
has db xref: url:https://rarediseases.org/rare-diseases/factor-xii-deficiency/

focal epilepsy
type: Class
subclass of: epilepsy
IAO_0000115: An epilepsy syndrome that is characterized by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response.
has db xref: MESH:D004828
has db xref: NCI:C122812
has db xref: SNOMEDCT_US_2023_03_01:230381009
has db xref: UMLS_CUI:C0014547
has exact synonym: localisation-related epilepsy
has exact synonym: partial epilepsy
has OBO namespace: disease_ontology
id: DOID:2234
in subset: NCIthesaurus

Axiom
annotated source: focal epilepsy
annotated property: IAO_0000115
annotated target: An epilepsy syndrome that is characterized by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Epilepsy
has db xref: url:http://en.wikipedia.org/wiki/Focal_epilepsy
has db xref: url:http://www.aafp.org/afp/2001/0701/p91.html

prothrombin deficiency
type: Class
subclass of: thrombophilia
IAO_0000115: A thrombophilia that is characterized by bleeding symptoms due to low levels of circulating prothrombin, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding coagulation factor II, also known as prothrombin, on chromosome 11p11.
has db xref: MESH:C562724
has db xref: MIM:613679
has db xref: NCI:C26799
has db xref: ORDO:325
has db xref: SNOMEDCT_US_2023_03_01:33297000
has db xref: UMLS_CUI:C0272317
has exact synonym: Congenital factor II deficiency
has exact synonym: Hereditary factor II deficiency disease
has exact synonym: hypoprothrombinemia
has OBO namespace: disease_ontology
has related synonym: Factor II deficiency
id: DOID:2235
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: prothrombin deficiency
annotated property: IAO_0000115
annotated target: A thrombophilia that is characterized by bleeding symptoms due to low levels of circulating prothrombin, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding coagulation factor II, also known as prothrombin, on chromosome 11p11.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007645
has db xref: url:https://ghr.nlm.nih.gov/condition/prothrombin-deficiency
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/30306070
has db xref: url:https://www.omim.org/entry/613679
has db xref: url:https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=325

congenital afibrinogenemia
type: Class
subclass of: blood coagulation disease
IAO_0000115: A blood coagulation disease that is characterized by an impaired blood clotting resulting from a lack deficiency of a the fibrinogen protein (coagulation factor I).
has db xref: GARD:5761
has db xref: MESH:D000347
has db xref: MIM:202400
has db xref: NCI:C98130
has db xref: SNOMEDCT_US_2023_03_01:278504009
has db xref: UMLS_CUI:C0001733
has exact synonym: Factor I deficiency
has exact synonym: Fibrinogen deficiency
has OBO namespace: disease_ontology
id: DOID:2236
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: congenital afibrinogenemia
annotated property: IAO_0000115
annotated target: A blood coagulation disease that is characterized by an impaired blood clotting resulting from a lack deficiency of a the fibrinogen protein (coagulation factor I).
has db xref: url:https://ghr.nlm.nih.gov/condition/congenital-afibrinogenemia#synonyms

hepatitis
type: Class
subclass of: liver disease
IAO_0000115: A liver disease that is characterized as an inflammation of the liver.
has alternative id: DOID:12352
has alternative id: DOID:14551
has alternative id: DOID:1706
has alternative id: DOID:1707
has alternative id: DOID:2238
has db xref: ICD10CM:K73.9
has db xref: ICD9CM:570
has db xref: ICD9CM:571.4
has db xref: ICD9CM:571.41
has db xref: MESH:D006521
has db xref: NCI:C82978
has db xref: SNOMEDCT_US_2023_03_01:155813004
has db xref: SNOMEDCT_US_2023_03_01:197268000
has db xref: SNOMEDCT_US_2023_03_01:266539002
has db xref: UMLS_CUI:C0001308
has db xref: UMLS_CUI:C0019189
has db xref: UMLS_CUI:C0149519
has exact synonym: acute and subacute liver necrosis
has exact synonym: acute hepatitis
has exact synonym: acute/subac. necrosis of liver
has exact synonym: animal hepatitis
has exact synonym: chronic hepatitis
has exact synonym: chronic persistent hepatitis
has OBO namespace: disease_ontology
id: DOID:2237
in subset: NCIthesaurus

Axiom
annotated source: hepatitis
annotated property: IAO_0000115
annotated target: A liver disease that is characterized as an inflammation of the liver.
has db xref: url:https://medlineplus.gov/hepatitis.html

granulomatous hepatitis
type: Class
subclass of: hepatitis
has db xref: NCI:C27015
has db xref: SNOMEDCT_US_2023_03_01:86514004
has db xref: UMLS_CUI:C0235369
has OBO namespace: disease_ontology
id: DOID:2239
in subset: NCIthesaurus

transient cerebral ischemia
type: Class
subclass of: ischemia
IAO_0000115: A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.
has alternative id: DOID:2315
has db xref: ICD10CM:G45.9
has db xref: MESH:D002546
has db xref: NCI:C50781
has db xref: SNOMEDCT_US_2023_03_01:195196001
has db xref: UMLS_CUI:C0007787
has exact synonym: TIA
has exact synonym: TIA - Transient ischaemic attack
has exact synonym: Transient cerebral ischaemia
has exact synonym: Transient ischemic attacks
has exact synonym: transient ischemic attack
has OBO namespace: disease_ontology
id: DOID:224
in subset: NCIthesaurus

Axiom
annotated source: transient cerebral ischemia
annotated property: IAO_0000115
annotated target: A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Transient_ischemic_attack

Axiom
annotated source: transient cerebral ischemia
annotated property: hasExactSynonym
annotated target: TIA
has synonym type: OMO_0003012

syndrome
type: Class
subclass of: disease
IAO_0000115: A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality.
has db xref: MESH:D013577
has db xref: NCI:C28193
has db xref: SNOMEDCT_US_2023_03_01:64572001
has db xref: UMLS_CUI:C0039082
has OBO namespace: disease_ontology
id: DOID:225
in subset: DO AGR slim
in subset: DO CFDE slim
in subset: DO GXD slim
in subset: DO MGI slim
in subset: NCIthesaurus

Axiom
annotated source: syndrome
annotated property: IAO_0000115
annotated target: A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality.
type: ECO_0007643
has db xref: url:https://www.merriam-webster.com/dictionary/syndrome#medicalDictionary

cervix disease
type: Class
subclass of: uterine disease
IAO_0000115: An uterine disease that is located_in the cervix.
has db xref: MESH:D002577
has db xref: NCI:C40241
has db xref: SNOMEDCT_US_2023_03_01:63339007
has db xref: UMLS_CUI:C0007867
has OBO namespace: disease_ontology
id: DOID:2253
in subset: NCIthesaurus

Axiom
annotated source: cervix disease
annotated property: IAO_0000115
annotated target: An uterine disease that is located_in the cervix.
type: ECO_0007645
has db xref: url:https://www.mdedge.com/obgmanagement/article/136739/gynecology/2017-update-cervical-disease

osteochondrodysplasia
type: Class
subclass of: DOID 65
IAO_0000115: A bone development disease that results_in defective development of cartilage or bone.
has alternative id: DOID:1764
has db xref: ICD10CM:Q78.9
has db xref: ICD9CM:756.4
has db xref: MESH:D010009
has db xref: NCI:C34466
has db xref: NCI:C84978
has db xref: SNOMEDCT_US_2023_03_01:205510001
has db xref: SNOMEDCT_US_2023_03_01:67988000
has db xref: UMLS_CUI:C0008449
has db xref: UMLS_CUI:C0029422
has exact synonym: Cartilage Development disorder
has exact synonym: Congenital anomaly of cartilage
has exact synonym: Osteochondrodysplasia syndrome
has exact synonym: chondrodystrophy
has exact synonym: skeletal dysplasia
has OBO namespace: disease_ontology
id: DOID:2256
in subset: NCIthesaurus

Axiom
annotated source: osteochondrodysplasia
annotated property: IAO_0000115
annotated target: A bone development disease that results_in defective development of cartilage or bone.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Osteochondrodysplasia

ankylosis
type: Class
subclass of: arthropathy
IAO_0000115: An arthropathy where there is a stiffness of a joint, the result of injury or disease. The rigidity may be complete or partial and may be due to inflammation of the tendinous or muscular structures outside the joint or of the tissues of the joint itself.
has db xref: ICD10CM:M24.6
has db xref: ICD9CM:718.5
has db xref: MESH:D000844
has db xref: NCI:C171941
has db xref: SNOMEDCT_US_2023_03_01:36504009
has db xref: UMLS_CUI:C0003090
has OBO namespace: disease_ontology
id: DOID:227
in subset: NCIthesaurus

Axiom
annotated source: ankylosis
annotated property: IAO_0000115
annotated target: An arthropathy where there is a stiffness of a joint, the result of injury or disease. The rigidity may be complete or partial and may be due to inflammation of the tendinous or muscular structures outside the joint or of the tissues of the joint itself.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Ankylosis

vulvovaginal candidiasis
type: Class
subclass of: candidiasis
IAO_0000115: A candidiasis that involves fungal infection of the vaginal mucous membranes in women caused by Candida albicans. The symptoms include intense vulval pruritus, burning, erythema and dyspareunia associated with a creamy white, curd-like discharge.
has db xref: ICD10CM:B37.3
has db xref: ICD9CM:112.1
has db xref: MESH:D002181
has db xref: NCI:C2914
has db xref: SNOMEDCT_US_2023_03_01:154404004
has db xref: UMLS_CUI:C0700345
has exact synonym: Candidal cervix
has exact synonym: Candidal vulvovaginitis
has exact synonym: Candidiasis of vulva and vagina
has exact synonym: Monilial vulvovaginitis
has OBO namespace: disease_ontology
id: DOID:2272
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: vulvovaginal candidiasis
annotated property: IAO_0000115
annotated target: A candidiasis that involves fungal infection of the vaginal mucous membranes in women caused by Candida albicans. The symptoms include intense vulval pruritus, burning, erythema and dyspareunia associated with a creamy white, curd-like discharge.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Vulvovaginal_candidiasis

vulvovaginitis
type: Class
subclass of: reproductive system disease
IAO_0000115: A female reproductive system disease that is characterized by inflammation of the vagina and vulva.
has db xref: ICD10CM:N76.0
has db xref: MESH:D014848
has db xref: NCI:C35131
has db xref: SNOMEDCT_US_2023_03_01:155981006
has db xref: UMLS_CUI:C0042998
has exact synonym: Vulvo-vaginitis
has OBO namespace: disease_ontology
id: DOID:2273
in subset: NCIthesaurus

Axiom
annotated source: vulvovaginitis
annotated property: IAO_0000115
annotated target: A female reproductive system disease that is characterized by inflammation of the vagina and vulva.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/26001874

pharyngitis
type: Class
subclass of: disease
IAO_0000115: An upper respiratory tract disease involving inflammation of the throat or pharynx resulting from bacterial, viral, fungal infections or irritants like pollutants or chemical substances and smoking. The infection is often referred to as sore throat. The symptoms include pain during swallowing, enlarged tonsils coated with a white discharge, runny nose, cough and slight fever.
has alternative id: DOID:10455
has alternative id: DOID:11586
has alternative id: DOID:11588
has alternative id: DOID:938
has alternative id: DOID:939
has db xref: ICD10CM:J02
has db xref: ICD9CM:462
has db xref: ICD9CM:472
has db xref: ICD9CM:478.20
has db xref: MESH:D010608
has db xref: MESH:D010612
has db xref: NCI:C26850
has db xref: NCI:C26851
has db xref: NCI:C34355
has db xref: SNOMEDCT_US_2023_03_01:195654001
has db xref: SNOMEDCT_US_2023_03_01:195763009
has db xref: SNOMEDCT_US_2023_03_01:37616004
has db xref: SNOMEDCT_US_2023_03_01:75860007
has db xref: UMLS_CUI:C0001344
has db xref: UMLS_CUI:C0031345
has db xref: UMLS_CUI:C0031350
has db xref: UMLS_CUI:C0155824
has exact synonym: Inflamed throat
has exact synonym: Persistent sore throat
has exact synonym: Pharyngeal disorder
has exact synonym: Pharyngitis - acute
has exact synonym: Sore throat - chronic
has exact synonym: acute pharyngitis
has exact synonym: acute sore throat
has exact synonym: chronic pharyn/nasopharyngitis
has exact synonym: chronic pharyngitis
has exact synonym: chronic pharyngitis and nasopharyngitis
has exact synonym: chronic sore throat
has OBO namespace: disease_ontology
has related synonym: pharyngeal disease
id: DOID:2275
in subset: NCIthesaurus

Axiom
annotated source: pharyngitis
annotated property: IAO_0000115
annotated target: An upper respiratory tract disease involving inflammation of the throat or pharynx resulting from bacterial, viral, fungal infections or irritants like pollutants or chemical substances and smoking. The infection is often referred to as sore throat. The symptoms include pain during swallowing, enlarged tonsils coated with a white discharge, runny nose, cough and slight fever.
type: ECO_0007638
type: ECO_0007646
has db xref: url:http://en.wikipedia.org/wiki/Pharyngitis
has db xref: url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A5016

gonadal disease
type: Class
subclass of: endocrine system disease
IAO_0000115: An endocrine system disease that is located_in the gonads.
has db xref: MESH:D006058
has db xref: NCI:C26786
has db xref: UMLS_CUI:C0018050
has OBO namespace: disease_ontology
id: DOID:2277
in subset: NCIthesaurus

Axiom
annotated source: gonadal disease
annotated property: IAO_0000115
annotated target: An endocrine system disease that is located_in the gonads.
type: ECO_0007645
has db xref: url:https://www.nature.com/subjects/gonadal-disorders

hidradenitis suppurativa
type: Class
subclass of: hidradenitis
IAO_0000115: A hidradenitis that is characterized by chronic inflammation of the apocrine sweat glands, has_symptom painful nodules, abscesses, sinus tract formation, scarring, erythema, pruritis, and pain, and has_material_basis_in chronic inflammation of the apocrine sweat glands leading to recurrent folliculitis and an accompanying immune response that worsens inflammation.
has db xref: GARD:6658
has db xref: ICD10CM:L73.2
has db xref: MESH:D017497
has db xref: MIM:142690
has db xref: MIM:613736
has db xref: MIM:613737
has db xref: NCI:C128429
has db xref: SNOMEDCT_US_2023_03_01:201204008
has db xref: UMLS_CUI:C0162836
has exact synonym: Acne inversa, familial
has OBO namespace: disease_ontology
id: DOID:2280
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: hidradenitis suppurativa
annotated property: IAO_0000115
annotated target: A hidradenitis that is characterized by chronic inflammation of the apocrine sweat glands, has_symptom painful nodules, abscesses, sinus tract formation, scarring, erythema, pruritis, and pain, and has_material_basis_in chronic inflammation of the apocrine sweat glands leading to recurrent folliculitis and an accompanying immune response that worsens inflammation.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5402905/

hidradenitis
type: Class
subclass of: skin disease
IAO_0000115: A sweat gland disease that is characterized by inflammation of the apocrine sweat glands and has_symptom erythema, edema, papules, plaques, pruritis, and pain.
has db xref: ICD9CM:705.83
has db xref: MESH:D016575
has db xref: NCI:C112190
has db xref: SNOMEDCT_US_2023_03_01:267866004
has db xref: UMLS_CUI:C0085160
has exact synonym: Hydradenitis
has OBO namespace: disease_ontology
id: DOID:2282
in subset: NCIthesaurus

Axiom
annotated source: hidradenitis
annotated property: IAO_0000115
annotated target: A sweat gland disease that is characterized by inflammation of the apocrine sweat glands and has_symptom erythema, edema, papules, plaques, pruritis, and pain.
type: ECO_0007636
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C112190

keratopathy
type: Class
subclass of: corneal disease
has db xref: NCI:C27012
has db xref: UMLS_CUI:C0235270
has OBO namespace: disease_ontology
id: DOID:2283
in subset: NCIthesaurus

capillary lymphangioma
type: Class
subclass of: vascular disease
has db xref: ICDO:9171/0
has db xref: NCI:C27509
has db xref: SNOMEDCT_US_2023_03_01:445492005
has db xref: UMLS_CUI:C1333176
has OBO namespace: disease_ontology
has related synonym: cutaneous lymphangioma
id: DOID:2286
in subset: DO cancer slim
in subset: NCIthesaurus

leptospirosis
type: Class
subclass of: bacterial infectious disease
IAO_0000115: A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted by contact with water, food, or soil containing urine from the infected animals. The infection has symptom jaundice, has symptom chills, has symptom fever, has symptom muscle pain, and has symptom hepatomegaly.
has alternative id: DOID:11348
has db xref: GARD:7881
has db xref: ICD10CM:A27
has db xref: ICD10CM:A27.0
has db xref: ICD9CM:100
has db xref: ICD9CM:100.0
has db xref: MESH:D007922
has db xref: MESH:D014895
has db xref: NCI:C84825
has db xref: SNOMEDCT_US_2023_03_01:154391003
has db xref: SNOMEDCT_US_2023_03_01:398067003
has db xref: UMLS_CUI:C0023364
has db xref: UMLS_CUI:C0043102
has exact synonym: Fort Bragg fever
has exact synonym: Leptospirosis icterohaemorrhagica
has exact synonym: Rat Catcher's Yellows
has exact synonym: Weil's disease
has exact synonym: nanukayami fever
has exact synonym: spirochetal jaundice
has OBO namespace: disease_ontology
id: DOID:2297
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus
in subset: gram-negative bacterial infectious disease
in subset: zoonotic infectious disease

Axiom
annotated source: leptospirosis
annotated property: IAO_0000115
annotated target: A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted by contact with water, food, or soil containing urine from the infected animals. The infection has symptom jaundice, has symptom chills, has symptom fever, has symptom muscle pain, and has symptom hepatomegaly.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Leptospirosis

lateral sclerosis
type: Class
subclass of: neurodegenerative disease
IAO_0000115: A motor neuron disease characterized by painless but progressive weakness and stiffness of the muscles of the legs.
has db xref: ICD10CM:G12.23
has db xref: ICD9CM:335.24
has db xref: MESH:D016472
has db xref: MIM:611637
has db xref: NCI:C129933
has db xref: ORDO:35689
has db xref: SNOMEDCT_US_2023_03_01:81211007
has db xref: UMLS_CUI:C0154682
has exact synonym: adult-onset primary lateral sclerosis
has exact synonym: primary lateral sclerosis
has OBO namespace: disease_ontology
id: DOID:230
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: lateral sclerosis
annotated property: IAO_0000115
annotated target: A motor neuron disease characterized by painless but progressive weakness and stiffness of the muscles of the legs.
type: ECO_0007636
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Primary_lateral_sclerosis
has db xref: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/645/viewAbstract

spondylolysis
type: Class
subclass of: DOID 65
IAO_0000115: A bone structure disease that involves a defect located_in lumbar vertebral column.
has db xref: ICD10CM:M43.0
has db xref: MESH:D013169
has db xref: NCI:C35034
has db xref: SNOMEDCT_US_2023_03_01:203688008
has db xref: UMLS_CUI:C0038018
has OBO namespace: disease_ontology
id: DOID:2300
in subset: NCIthesaurus

Axiom
annotated source: spondylolysis
annotated property: IAO_0000115
annotated target: A bone structure disease that involves a defect located_in lumbar vertebral column.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Spondylolysis
has db xref: url:http://my.clevelandclinic.org/disorders/back_pain/hic_spondylolysis.aspx
has db xref: url:http://orthoinfo.aaos.org/topic.cfm?topic=a00053
has db xref: url:http://www.umm.edu/spinecenter/education/spondylolysis_spondylolisthesis.htm

nocardiosis
type: Class
subclass of: bacterial infectious disease
IAO_0000115: An opportunistic bacterial infectious disease that results_in disseminated infection in immunocompromised hosts, has_material_basis_in Nocardia asteroides. The infection has_symptom pneumonia, has_symptom cellulitis, has_symptom lesions in the brain or meninges, and has_symptom ascending regional lymphadenopathy.
has db xref: GARD:7210
has db xref: ICD10CM:A43
has db xref: MESH:D009617
has db xref: NCI:C171147
has db xref: SNOMEDCT_US_2023_03_01:29227009
has db xref: UMLS_CUI:C0028242
has exact synonym: Nocardia infectious disease
has OBO namespace: disease_ontology
id: DOID:2312
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus
in subset: gram-positive bacterial infectious disease

Axiom
annotated source: nocardiosis
annotated property: IAO_0000115
annotated target: An opportunistic bacterial infectious disease that results_in disseminated infection in immunocompromised hosts, has_material_basis_in Nocardia asteroides. The infection has_symptom pneumonia, has_symptom cellulitis, has_symptom lesions in the brain or meninges, and has_symptom ascending regional lymphadenopathy.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Nocardiosis

gastroenteritis
type: Class
subclass of: disease
IAO_0000115: A gastrointestinal system infectious disease that involves inflammation of the lining of the stomach and small and large intestines, which is caused by viruses, bacteria, or parasites. Chemicals and drugs also cause gastroenteritis. The symptoms include diarrhea, loss of appetite, nausea, vomiting, cramps, and discomfort in the abdomen.
has alternative id: DOID:4094
has alternative id: DOID:5269
has db xref: ICD10CM:K52.9
has db xref: MESH:D005759
has db xref: NCI:C34632
has db xref: SNOMEDCT_US_2023_03_01:154278002
has db xref: UMLS_CUI:C0017160
has exact synonym: cholera morbus
has exact synonym: infectious colitis, enteritis and gastroenteritis
has OBO namespace: disease_ontology
id: DOID:2326
in subset: NCIthesaurus

Axiom
annotated source: gastroenteritis
annotated property: IAO_0000115
annotated target: A gastrointestinal system infectious disease that involves inflammation of the lining of the stomach and small and large intestines, which is caused by viruses, bacteria, or parasites. Chemicals and drugs also cause gastroenteritis. The symptoms include diarrhea, loss of appetite, nausea, vomiting, cramps, and discomfort in the abdomen.
type: ECO_0007637
has db xref: url:http://www.merck.com/mmhe/sec09/ch122/ch122a.html

viral gastritis
type: Class
subclass of: gastritis
IAO_0000115: A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by viruses. The symptoms include abdominal pain, indigestion, ulcer formation, abdominal bloating, nausea and vomiting.
has db xref: NCI:C27184
has db xref: SNOMEDCT_US_2023_03_01:285344007
has db xref: UMLS_CUI:C0563238
has OBO namespace: disease_ontology
id: DOID:2327
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: viral gastritis
annotated property: IAO_0000115
annotated target: A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by viruses. The symptoms include abdominal pain, indigestion, ulcer formation, abdominal bloating, nausea and vomiting.
type: ECO_0007637
has db xref: url:http://www.merck.com/mmpe/sec02/ch013/ch013c.html

mandibular cancer
type: Class
subclass of: bone cancer
IAO_0000115: A jaw cancer and mandibular disease that affects your lower jawbone.
has alternative id: DOID:12408
has db xref: ICD10CM:C41.1
has db xref: ICD9CM:170.1
has db xref: MESH:D008339
has db xref: NCI:C35178
has db xref: SNOMEDCT_US_2023_03_01:126551000
has db xref: SNOMEDCT_US_2023_03_01:448668007
has db xref: UMLS_CUI:C0024694
has db xref: UMLS_CUI:C0153511
has exact synonym: malignant neoplasm of inferior maxilla
has exact synonym: malignant neoplasm of lower Jaw bone
has exact synonym: mandible cancer
has exact synonym: neoplasm of mandible
has OBO namespace: disease_ontology
has related synonym: malignant neoplasm of mandible
has related synonym: mandibular neoplasm
id: DOID:2338
in subset: NCIthesaurus

Axiom
annotated source: mandibular cancer
annotated property: IAO_0000115
annotated target: A jaw cancer and mandibular disease that affects your lower jawbone.

Crouzon syndrome
type: Class
subclass of: craniosynostosis
IAO_0000115: A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene.
has db xref: GARD:6206
has db xref: ICD10CM:Q75.1
has db xref: MESH:D003394
has db xref: MIM:123500
has db xref: NCI:C84653
has db xref: SNOMEDCT_US_2023_03_01:28861008
has db xref: UMLS_CUI:C0010273
has exact synonym: Craniofacial Dysostosis
has OBO namespace: disease_ontology
has related synonym: Crouzon's disease
id: DOID:2339
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Crouzon syndrome
annotated property: IAO_0000115
annotated target: A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Crouzon_syndrome
has db xref: url:http://ghr.nlm.nih.gov/condition/crouzon-syndrome
has db xref: url:https://www.faces-cranio.org/crouzon

colon adenocarcinoma
type: Class
subclass of: colon carcinoma
IAO_0000115: A colon carcinoma that derives_from epithelial cells of glandular origin.
has db xref: MESH:D003110
has db xref: NCI:C4349
has db xref: SNOMEDCT_US_2023_03_01:255082000
has db xref: UMLS_CUI:C0338106
has exact synonym: Colonic adenocarcinoma
has exact synonym: adenocarcinoma of colon
has OBO namespace: disease_ontology
has related synonym: adenocarcinoma of the colon
id: DOID:234
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: colon adenocarcinoma
annotated property: IAO_0000115
annotated target: A colon carcinoma that derives_from epithelial cells of glandular origin.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Adenocarcinoma

craniosynostosis
type: Class
subclass of: dysostosis
IAO_0000115: A synostosis that results_in premature fusion located_in skull.
has db xref: GARD:6209
has db xref: ICD10CM:Q75.0
has db xref: MESH:D003398
has db xref: MIM:182212
has db xref: MIM:600593
has db xref: NCI:C84655
has db xref: ORDO:1531
has db xref: SNOMEDCT_US_2023_03_01:205414007
has db xref: UMLS_CUI:C0010278
has exact synonym: Premature closure of cranial sutures
has OBO namespace: disease_ontology
id: DOID:2340
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS].

Axiom
annotated source: craniosynostosis
annotated property: IAO_0000115
annotated target: A synostosis that results_in premature fusion located_in skull.
type: ECO_0007638
type: ECO_0007640
has db xref: url:http://en.wikipedia.org/wiki/Craniosynostosis
has db xref: url:http://www.mayoclinic.com/health/craniosynostosis/DS00959
has db xref: url:http://www.ninds.nih.gov/disorders/craniosynostosis/craniosynostosis.htm
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/001590.htm

polyclonal hypergammaglobulinemia
type: Class
subclass of: DOID 655
has db xref: ICD10CM:D89.0
has db xref: ICD9CM:273.0
has db xref: NCI:C35885
has db xref: SNOMEDCT_US_2023_03_01:190808009
has db xref: UMLS_CUI:C0154254
has OBO namespace: disease_ontology
id: DOID:2344
in subset: NCIthesaurus

generalized atherosclerosis
type: Class
subclass of: atherosclerosis
IAO_0000115: An atherosclerosis that is not localized.
has db xref: ICD10CM:I70.91
has db xref: ICD9CM:440.9
has db xref: NCI:C35767
has db xref: SNOMEDCT_US_2023_03_01:367108003
has db xref: UMLS_CUI:C0017327
has exact synonym: Generalised atherosclerosis
has OBO namespace: disease_ontology
id: DOID:2347
in subset: NCIthesaurus

Axiom
annotated source: generalized atherosclerosis
annotated property: IAO_0000115
annotated target: An atherosclerosis that is not localized.
type: ECO_0007646
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK218744/

arteriosclerotic cardiovascular disease
type: Class
subclass of: arteriosclerosis
IAO_0000115: An arteriosclerosis that results in cardiovascular disease.
has db xref: NCI:C34403
has exact synonym: Cardiovascular arteriosclerosis
has OBO namespace: disease_ontology
id: DOID:2348
in subset: NCIthesaurus

Axiom
annotated source: arteriosclerotic cardiovascular disease
annotated property: IAO_0000115
annotated target: An arteriosclerosis that results in cardiovascular disease.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK218744/

arteriosclerosis
type: Class
subclass of: vascular disease
IAO_0000115: An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.
has db xref: ICD10CM:I70
has db xref: MESH:D001161
has db xref: NCI:C34398
has db xref: SNOMEDCT_US_2023_03_01:195251000
has db xref: UMLS_CUI:C0003850
has exact synonym: Arteriosclerotic vascular disease
has OBO namespace: disease_ontology
id: DOID:2349
in subset: NCIthesaurus

Axiom
annotated source: arteriosclerosis
annotated property: IAO_0000115
annotated target: An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Arteriosclerosis

colonic benign neoplasm
type: Class
subclass of: DOID 4610
IAO_0000115: An intestinal benign neoplasm that is located_in the colon.
has db xref: MESH:D003110
has db xref: NCI:C2953
has db xref: SNOMEDCT_US_2023_03_01:126838000
has db xref: UMLS_CUI:C0009375
has exact synonym: Colonic Mass
has exact synonym: Colonic tumor
has exact synonym: colon neoplasm
has exact synonym: neoplasm of colon
has OBO namespace: disease_ontology
id: DOID:235
in subset: NCIthesaurus

Axiom
annotated source: colonic benign neoplasm
annotated property: IAO_0000115
annotated target: An intestinal benign neoplasm that is located_in the colon.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Benign_tumor

hemochromatosis
type: Class
subclass of: DOID 655
IAO_0000115: A metal metabolism disorder characterized by the accumulation of iron in various organs of the body.
has db xref: ICD10CM:E83.11
has db xref: MESH:D006432
has db xref: MIM:231100
has db xref: MIM:PS235200
has db xref: NCI:C82892
has db xref: ORDO:139498
has db xref: SNOMEDCT_US_2023_03_01:86781004
has db xref: UMLS_CUI:C0018995
has exact synonym: Haemochromatosis
has exact synonym: diabetes bronze
has exact synonym: iron storage disorder
has OBO namespace: disease_ontology
id: DOID:2352
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: hemochromatosis
annotated property: IAO_0000115
annotated target: A metal metabolism disorder characterized by the accumulation of iron in various organs of the body.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/HFE_hereditary_haemochromatosis
has db xref: url:http://ghr.nlm.nih.gov/condition/hemochromatosis
has db xref: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/13/viewAbstract

anemia
type: Class
subclass of: DOID 74
IAO_0000115: A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.
has alternative id: DOID:13121
has db xref: EFO:0004272
has db xref: ICD10CM:D64.9
has db xref: ICD9CM:285.9
has db xref: MESH:D000740
has db xref: NCI:C2869
has db xref: SNOMEDCT_US_2023_03_01:64593003
has db xref: UMLS_CUI:C0002871
has exact synonym: anaemia
has OBO namespace: disease_ontology
id: DOID:2355
in subset: NCIthesaurus
comment: PRISM.

Axiom
annotated source: anemia
annotated property: IAO_0000115
annotated target: A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Anemia
has db xref: url:http://www.nhlbi.nih.gov/health/health-topics/topics/anemia/

macrocytic anemia
type: Class
subclass of: anemia
IAO_0000115: An anemia that is characterized by the production of abnormally large red blood cells and mean corpuscular volume (MCV) (more than 100 fL).
has db xref: MESH:D000748
has db xref: NCI:C34381
has db xref: SNOMEDCT_US_2023_03_01:83414005
has db xref: UMLS_CUI:C0002886
has exact synonym: ANEMIA MACROCYTIC
has exact synonym: Macrocytic anaemia
has OBO namespace: disease_ontology
id: DOID:2361
in subset: NCIthesaurus

Axiom
annotated source: macrocytic anemia
annotated property: IAO_0000115
annotated target: An anemia that is characterized by the production of abnormally large red blood cells and mean corpuscular volume (MCV) (more than 100 fL).
has db xref: url:https://my.clevelandclinic.org/health/diseases/23017-macrocytic-anemia

neuroaxonal dystrophy
type: Class
subclass of: DOID 936
has db xref: MESH:D019150
has db xref: NCI:C161542
has db xref: SNOMEDCT_US_2023_03_01:230365004
has db xref: UMLS_CUI:C0338473
has OBO namespace: disease_ontology
id: DOID:2367
in subset: NCIthesaurus

hereditary elliptocytosis
type: Class
subclass of: DOID 74
IAO_0000115: A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present.
has db xref: GARD:6621
has db xref: ICD10CM:D58.1
has db xref: ICD9CM:282.1
has db xref: MESH:D004612
has db xref: MIM:130600
has db xref: MIM:611804
has db xref: NCI:C35882
has db xref: ORDO:288
has db xref: SNOMEDCT_US_2023_03_01:154801000
has db xref: UMLS_CUI:C0013902
has exact synonym: Congenital elliptocytosis
has exact synonym: ovalocytosis
has OBO namespace: disease_ontology
id: DOID:2373
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: hereditary elliptocytosis
annotated property: IAO_0000115
annotated target: A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Hereditary_elliptocytosis
has db xref: url:http://www.merckmanuals.com/professional/hematology_and_oncology/anemias_caused_by_hemolysis/hereditary_spherocytosis_and_hereditary_elliptocytosis.html
has db xref: url:https://research.nhgri.nih.gov/RBCmembrane/

multiple sclerosis
type: Class
subclass of: demyelinating disease
IAO_0000115: A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.
has db xref: GARD:10255
has db xref: ICD10CM:G35
has db xref: ICD9CM:340
has db xref: MESH:D009103
has db xref: MIM:612594
has db xref: MIM:612595
has db xref: MIM:612596
has db xref: NCI:C3243
has db xref: SNOMEDCT_US_2023_03_01:155023009
has db xref: UMLS_CUI:C0026769
has exact synonym: Generalized multiple sclerosis
has exact synonym: insular sclerosis
has OBO namespace: disease_ontology
id: DOID:2377
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: multiple sclerosis
annotated property: IAO_0000115
annotated target: A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Multiple_sclerosis
has db xref: url:https://ghr.nlm.nih.gov/condition/multiple-sclerosis

relapsing-remitting multiple sclerosis
type: Class
subclass of: multiple sclerosis
IAO_0000115: A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles.
has db xref: EFO:0003929
has db xref: MESH:D020529
has db xref: NCI:C165675
has db xref: SNOMEDCT_US_2023_03_01:426373005
has db xref: UMLS_CUI:C0751967
has exact synonym: RRMS
has exact synonym: Relapsing-remitting MS
has OBO namespace: disease_ontology
id: DOID:2378
in subset: NCIthesaurus

Axiom
annotated source: relapsing-remitting multiple sclerosis
annotated property: IAO_0000115
annotated target: A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles.
type: ECO_0007637
has db xref: url:http://www.mayoclinic.org/multiple-sclerosis/types.html

Axiom
annotated source: relapsing-remitting multiple sclerosis
annotated property: hasExactSynonym
annotated target: RRMS
has synonym type: OMO_0003012

kernicterus
type: Class
subclass of: DOID 936
IAO_0000115: A brain disease that is characterized by hyperbilirubinemia-induced brain dysfunction.
has db xref: GARD:6830
has db xref: ICD10CM:P57
has db xref: MESH:D007647
has db xref: NCI:C84799
has db xref: SNOMEDCT_US_2023_03_01:157135006
has db xref: UMLS_CUI:C0022610
has exact synonym: bilirubin encephalopathy
has OBO namespace: disease_ontology
id: DOID:2382
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: kernicterus
annotated property: IAO_0000115
annotated target: A brain disease that is characterized by hyperbilirubinemia-induced brain dysfunction.
type: ECO_0007638
type: ECO_0007640
has db xref: url:https://en.wikipedia.org/wiki/Kernicterus
has db xref: url:https://www.nlm.nih.gov/medlineplus/ency/article/007309.htm

neonatal jaundice
type: Class
subclass of: skin disease
IAO_0000115: A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant.
has db xref: ICD10CM:P59.9
has db xref: MESH:D007567
has db xref: NCI:C99246
has db xref: SNOMEDCT_US_2023_03_01:299968002
has db xref: UMLS_CUI:C0022353
has exact synonym: neonatal hyperbilirubinemia
has exact synonym: neonatal icterus
has OBO namespace: disease_ontology
id: DOID:2383
in subset: NCIthesaurus

Axiom
annotated source: neonatal jaundice
annotated property: IAO_0000115
annotated target: A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant.
type: ECO_0007638
type: ECO_0007640
has db xref: url:http://en.wikipedia.org/wiki/Neonatal_jaundice
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/001559.htm

renal artery disease
type: Class
subclass of: vascular disease
has db xref: ICD9CM:593.81
has db xref: NCI:C35338
has db xref: SNOMEDCT_US_2023_03_01:16934004
has db xref: UMLS_CUI:C0268790
has exact synonym: renal vascular disease
has exact synonym: vascular disorder of kidney
has OBO namespace: disease_ontology
id: DOID:2388
in subset: NCIthesaurus

glandular cystitis
type: Class
subclass of: cystitis
has db xref: NCI:C39860
has db xref: SNOMEDCT_US_2023_03_01:72815004
has db xref: UMLS_CUI:C0268837
has OBO namespace: disease_ontology
has related synonym: cystitis glandularis
id: DOID:2392
in subset: NCIthesaurus

ovarian cancer
type: Class
subclass of: female reproductive organ cancer
IAO_0000115: A female reproductive organ cancer that is located_in the ovary.
has alternative id: DOID:0060070
has alternative id: DOID:2144
has alternative id: DOID:9595
has db xref: GARD:7295
has db xref: ICD10CM:C56
has db xref: ICD9CM:183.0
has db xref: MESH:D010051
has db xref: MIM:167000
has db xref: MIM:607893
has db xref: NCI:C4984
has db xref: NCI:C7431
has db xref: ORDO:213500
has db xref: ORDO:213517
has db xref: SNOMEDCT_US_2023_03_01:123843001
has db xref: SNOMEDCT_US_2023_03_01:372117006
has db xref: SNOMEDCT_US_2023_03_01:93934004
has db xref: UMLS_CUI:C0919267
has db xref: UMLS_CUI:C1140680
has db xref: UMLS_CUI:C1299247
has exact synonym: malignant Ovarian tumor
has exact synonym: malignant tumour of ovary
has exact synonym: ovarian neoplasm
has exact synonym: ovary neoplasm
has exact synonym: primary ovarian cancer
has exact synonym: tumor of the Ovary
has OBO namespace: disease_ontology
id: DOID:2394
in subset: DO CFDE slim
in subset: DO FlyBase slim
in subset: DO RAD slim
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: ovarian cancer
annotated property: IAO_0000115
annotated target: A female reproductive organ cancer that is located_in the ovary.
type: ECO_0007637
type: ECO_0007641
has db xref: url:http://www.cancer.gov/dictionary?CdrID=445074

iris disease
type: Class
subclass of: uveal disease
has db xref: MESH:D007499
has db xref: NCI:C34737
has db xref: SNOMEDCT_US_2023_03_01:85478004
has db xref: UMLS_CUI:C0022078
has OBO namespace: disease_ontology
id: DOID:240
in subset: DO RAD slim
in subset: NCIthesaurus

clitoris cancer
type: Class
subclass of: vulva cancer
IAO_0000115: A vulva cancer that is located_in the clitoris.
has alternative id: DOID:2400
has db xref: ICD10CM:C51.2
has db xref: ICD9CM:184.3
has db xref: NCI:C3557
has db xref: NCI:C9362
has db xref: SNOMEDCT_US_2023_03_01:93758009
has db xref: UMLS_CUI:C0153589
has db xref: UMLS_CUI:C1333070
has exact synonym: Clitoral Ca
has exact synonym: carcinoma of Clitoris
has exact synonym: clitoral cancer
has exact synonym: malignant neoplasm of clitoris
has exact synonym: malignant tumor of Clitoris
has OBO namespace: disease_ontology
id: DOID:2401
in subset: NCIthesaurus

Axiom
annotated source: clitoris cancer
annotated property: IAO_0000115
annotated target: A vulva cancer that is located_in the clitoris.
type: ECO_0007645
has db xref: url:https://scialert.net/fulltext/?doi=ijcr.2008.110.126

skin granular cell tumor
type: Class
subclass of: skin benign neoplasm
has db xref: NCI:C5617
has db xref: SNOMEDCT_US_2023_03_01:254763007
has db xref: UMLS_CUI:C0346060
has exact synonym: granular cell neoplasm of the skin
has exact synonym: granular cell tumor of skin
has exact synonym: granular cell tumour of skin
has exact synonym: skin granular cell tumour
has OBO namespace: disease_ontology
id: DOID:2410
in subset: NCIthesaurus

granular cell tumor
type: Class
subclass of: skin benign neoplasm
has db xref: GARD:9618
has db xref: ICDO:9580/0
has db xref: MESH:D016586
has db xref: NCI:C3474
has db xref: SNOMEDCT_US_2023_03_01:12169001
has db xref: UMLS_CUI:C0085167
has exact synonym: neoplasm of granular cell
has OBO namespace: disease_ontology
id: DOID:2411
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

cutaneous ganglioneuroma
type: Class
subclass of: skin benign neoplasm
has db xref: NCI:C4481
has db xref: SNOMEDCT_US_2023_03_01:254766004
has db xref: UMLS_CUI:C0346063
has exact synonym: Ganglioneuroma of skin
has OBO namespace: disease_ontology
id: DOID:2425
in subset: NCIthesaurus

gangliocytoma
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A central nervous system benign neoplasm that has_material_basis_in mature neurons, and is classified by the absence of neoplastic glial cells.
has db xref: GARD:10638
has db xref: ICDO:9492/0
has db xref: MESH:D005729
has db xref: NCI:C6934
has db xref: SNOMEDCT_US_2021_09_01:128919000
has exact synonym: gangliocytoma of central nervous system
has OBO namespace: disease_ontology
id: DOID:2426
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: gangliocytoma
annotated property: IAO_0000115
annotated target: A central nervous system benign neoplasm that has_material_basis_in mature neurons, and is classified by the absence of neoplastic glial cells.
type: ECO_0007637
type: ECO_0007645
has db xref: url:https://link.springer.com/chapter/10.1007/978-1-4419-1062-2_18
has db xref: url:https://radiopaedia.org/articles/gangliocytoma
has db xref: url:https://rarediseases.info.nih.gov/diseases/10638/gangliocytoma

skin glomus tumor
type: Class
subclass of: glomus tumor
has db xref: NCI:C4491
has db xref: SNOMEDCT_US_2023_03_01:254795008
has db xref: UMLS_CUI:C0346083
has exact synonym: Glomus skin neoplasm
has exact synonym: Glomus tumor of skin
has exact synonym: Glomus tumour of skin
has exact synonym: skin glomus tumour
has OBO namespace: disease_ontology
id: DOID:2430
in subset: NCIthesaurus

glomus tumor
type: Class
subclass of: hemangiopericytic tumor
IAO_0000115: A hemangiopericytic tumor that is a mesenchymal neoplasm composed of cells that closely resemble the modified smooth muscle cells of the normal glomus body.
has db xref: ICDO:8711/0
has db xref: MESH:D005918
has db xref: NCI:C3060
has db xref: SNOMEDCT_US_2023_03_01:189193002
has db xref: UMLS_CUI:C0017653
has exact synonym: Glomus neoplasm
has exact synonym: Glomus tumour
has OBO namespace: disease_ontology
id: DOID:2431
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: glomus tumor
annotated property: IAO_0000115
annotated target: A hemangiopericytic tumor that is a mesenchymal neoplasm composed of cells that closely resemble the modified smooth muscle cells of the normal glomus body.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Glomus_tumor

epidermal appendage tumor
type: Class
subclass of: skin benign neoplasm
has db xref: NCI:C4463
has db xref: SNOMEDCT_US_2023_03_01:126489007
has db xref: UMLS_CUI:C0345988
has exact synonym: neoplasm of skin with adnexal differentiation
has exact synonym: neoplasm of the skin Appendage
has exact synonym: skin appendage tumour
has OBO namespace: disease_ontology
id: DOID:2433
in subset: NCIthesaurus

skin glomangioma
type: Class
subclass of: glomangioma
has db xref: NCI:C6750
has db xref: SNOMEDCT_US_2023_03_01:403970001
has db xref: UMLS_CUI:C1275226
has exact synonym: Cutaneous Glomangioma
has exact synonym: Glomangioma of skin
has OBO namespace: disease_ontology
id: DOID:2435
in subset: NCIthesaurus

glomangioma
type: Class
subclass of: DOID 5238
IAO_0000115: A benign perivascular tumor that is a morphologic variant of the glomus tumor characterized by the presence of dilated veins, surrounded by small clusters of glomus cells. Glomangiomas are most often present in patients with multiple lesions.
has db xref: ICDO:8712/0
has db xref: MESH:D005918
has db xref: MIM:138000
has db xref: NCI:C4222
has db xref: ORDO:83454
has db xref: SNOMEDCT_US_2023_03_01:7429002
has db xref: UMLS_CUI:C0334421
has exact synonym: Glomuvenous Malformation
has OBO namespace: disease_ontology
id: DOID:2436
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: glomangioma
annotated property: IAO_0000115
annotated target: A benign perivascular tumor that is a morphologic variant of the glomus tumor characterized by the presence of dilated veins, surrounded by small clusters of glomus cells. Glomangiomas are most often present in patients with multiple lesions.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/21163162/

dermis tumor
type: Class
subclass of: skin benign neoplasm
has db xref: NCI:C4475
has db xref: SNOMEDCT_US_2023_03_01:254735005
has db xref: UMLS_CUI:C0346041
has exact synonym: dermis tumour
has exact synonym: neoplasm of Dermis
has exact synonym: tumor of dermis
has exact synonym: tumour of dermis
has OBO namespace: disease_ontology
id: DOID:2438
in subset: NCIthesaurus

frontal sinus squamous cell carcinoma
type: Class
subclass of: frontal sinus cancer
IAO_0000115: A squamous cell carcinoma that is located_in the frontal sinus.
has db xref: NCI:C6067
has db xref: SNOMEDCT_US_2023_03_01:1260048003
has db xref: UMLS_CUI:C1333646
has exact synonym: Epidermoid carcinoma of the Frontal sinus
has OBO namespace: disease_ontology
id: DOID:2441
in subset: NCIthesaurus

Axiom
annotated source: frontal sinus squamous cell carcinoma
annotated property: IAO_0000115
annotated target: A squamous cell carcinoma that is located_in the frontal sinus.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/22169549

paranasal sinus squamous cell carcinoma
type: Class
subclass of: paranasal sinus cancer
IAO_0000115: A paranasal sinus cancer that derives_from squamous epithelial cells.
has db xref: NCI:C8193
has db xref: UMLS_CUI:C0280334
has exact synonym: epidermoid carcinoma of the paranasal sinus
has exact synonym: squamous cell carcinoma of paranasal sinus
has OBO namespace: disease_ontology
id: DOID:2442
in subset: NCIthesaurus
broad match: NCI:C68611
broad match: ORDO:500464
broad match: UMLS_CUI:C0280332

Axiom
annotated source: paranasal sinus squamous cell carcinoma
annotated property: IAO_0000115
annotated target: A paranasal sinus cancer that derives_from squamous epithelial cells.
type: ECO_0007645
has db xref: url:https://pmc.ncbi.nlm.nih.gov/articles/PMC6534741/
has db xref: url:https://www.cancer.gov/types/head-and-neck/patient/adult/paranasal-sinus-treatment-pdq

acromegaly
type: Class
subclass of: endocrine system disease
IAO_0000115: A disease of metabolism that has_material_basis_in excessive growth hormone production which results_in enlargement located_in limb.
has db xref: GARD:5725
has db xref: MESH:D000172
has db xref: NCI:C84533
has db xref: SNOMEDCT_US_2023_03_01:154698000
has db xref: UMLS_CUI:C0001206
has OBO namespace: disease_ontology
id: DOID:2449
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: acromegaly
annotated property: IAO_0000115
annotated target: A disease of metabolism that has_material_basis_in excessive growth hormone production which results_in enlargement located_in limb.
type: ECO_0007638
type: ECO_0007640
has db xref: url:http://en.wikipedia.org/wiki/Acromegaly
has db xref: url:http://www.mayoclinic.com/health/acromegaly/DS00478
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/000321.htm

central retinal vein occlusion
type: Class
subclass of: retinal vein occlusion
has db xref: ICD10CM:H34.81
has db xref: ICD9CM:362.35
has db xref: MESH:D012170
has db xref: NCI:C118859
has db xref: SNOMEDCT_US_2023_03_01:193378003
has db xref: UMLS_CUI:C0154841
has OBO namespace: disease_ontology
id: DOID:2450
in subset: NCIthesaurus

protein S deficiency
type: Class
subclass of: thrombophilia
IAO_0000115: A thrombophilia that is characterized by increased risk of developing abnormal blood clots.
has db xref: GARD:4524
has db xref: ICD10CM:D68.59
has db xref: MESH:D018455
has db xref: NCI:C99026
has db xref: SNOMEDCT_US_2023_03_01:1563006
has db xref: UMLS_CUI:C0242666
has exact synonym: Protein S deficiency disease
has OBO namespace: disease_ontology
id: DOID:2451
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: protein S deficiency
annotated property: IAO_0000115
annotated target: A thrombophilia that is characterized by increased risk of developing abnormal blood clots.
has db xref: url:https://medlineplus.gov/genetics/condition/protein-s-deficiency/

thrombophilia
type: Class
subclass of: blood coagulation disease
IAO_0000115: A blood coagulation disease that is characterized by an increased tendency to form clots.
has db xref: ICD10CM:D68.59
has db xref: MESH:D019851
has db xref: MIM:PS188050
has db xref: NCI:C84479
has db xref: SNOMEDCT_US_2023_03_01:191302007
has db xref: UMLS_CUI:C0398623
has exact synonym: hypercoagulability state
has OBO namespace: disease_ontology
id: DOID:2452
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: thrombophilia
annotated property: IAO_0000115
annotated target: A blood coagulation disease that is characterized by an increased tendency to form clots.
has db xref: url:https://en.wikipedia.org/wiki/Thrombophilia
has db xref: url:https://www.nhs.uk/conditions/thrombophilia/

blepharoconjunctivitis
type: Class
subclass of: DOID 9423
IAO_0000115: A blepharitis that is characterized by the dual combination of conjunctivitis with blepharitis.
has db xref: ICD10CM:H10.5
has db xref: ICD9CM:372.2
has db xref: NCI:C34430
has db xref: SNOMEDCT_US_2023_03_01:155164001
has db xref: UMLS_CUI:C0005743
has OBO namespace: disease_ontology
id: DOID:2456
in subset: NCIthesaurus

Axiom
annotated source: blepharoconjunctivitis
annotated property: IAO_0000115
annotated target: A blepharitis that is characterized by the dual combination of conjunctivitis with blepharitis.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Conjunctivitis

giant papillary conjunctivitis
type: Class
subclass of: papillary conjunctivitis
has db xref: GARD:8445
has db xref: MESH:D003233
has db xref: NCI:C34507
has db xref: SNOMEDCT_US_2023_03_01:231857004
has db xref: UMLS_CUI:C0009769
has OBO namespace: disease_ontology
id: DOID:2457
in subset: DO rare slim
in subset: NCIthesaurus

papillary conjunctivitis
type: Class
subclass of: DOID 6195
has db xref: NCI:C35616
has db xref: SNOMEDCT_US_2023_03_01:416878008
has db xref: UMLS_CUI:C0854165
has OBO namespace: disease_ontology
id: DOID:2458
in subset: NCIthesaurus

retinal vascular disease
type: Class
subclass of: DOID 5679
has db xref: NCI:C35170
has db xref: SNOMEDCT_US_2023_03_01:57534004
has db xref: UMLS_CUI:C0154833
has exact synonym: retina circulation disorder
has OBO namespace: disease_ontology
id: DOID:2462
in subset: NCIthesaurus

vernal conjunctivitis
type: Class
subclass of: chronic conjunctivitis
has db xref: GARD:7854
has db xref: ICD10CM:H10.44
has db xref: ICD9CM:372.13
has db xref: MESH:D003233
has db xref: NCI:C34508
has db xref: SNOMEDCT_US_2023_03_01:193867003
has db xref: UMLS_CUI:C0009773
has OBO namespace: disease_ontology
id: DOID:2474
in subset: DO rare slim
in subset: NCIthesaurus

chronic conjunctivitis
type: Class
subclass of: DOID 6195
has db xref: ICD10CM:H10.4
has db xref: ICD9CM:372.1
has db xref: NCI:C35197
has db xref: SNOMEDCT_US_2023_03_01:155163007
has db xref: UMLS_CUI:C0155145
has OBO namespace: disease_ontology
id: DOID:2475
in subset: NCIthesaurus

hereditary spastic paraplegia
type: Class
subclass of: DOID 607
IAO_0000115: A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.
has db xref: GARD:6637
has db xref: ICD10CM:G11.4
has db xref: ICD9CM:334.1
has db xref: MESH:D015419
has db xref: MIM:PS303350
has db xref: NCI:C140267
has db xref: SNOMEDCT_US_2023_03_01:267692008
has db xref: UMLS_CUI:C0037773
has exact synonym: French settlement disease
has exact synonym: Strumpell-Lorrain disease
has exact synonym: familial spastic paraplegia
has exact synonym: hereditary spastic paraparesis
has OBO namespace: disease_ontology
id: DOID:2476
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: hereditary spastic paraplegia
annotated property: IAO_0000115
annotated target: A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Familial_spastic_paraplegia

motor peripheral neuropathy
type: Class
subclass of: DOID 870
IAO_0000115: A neuropathy that is characterized by inflammation or degeneration of the peripheral motor nerves.
has db xref: ICD10CM:G60.0
has db xref: MESH:D015417
has db xref: NCI:C75467
has db xref: SNOMEDCT_US_2023_03_01:128202008
has db xref: UMLS_CUI:C0027888
has exact synonym: HSMN
has exact synonym: HSMN - Hereditary sensory and motor neuropathy
has exact synonym: Hereditary motor and sensory neuropathy
has exact synonym: Peripheral Motor Neuropathy
has exact synonym: neuropathic muscular atrophy
has OBO namespace: disease_ontology
id: DOID:2477
in subset: NCIthesaurus

Axiom
annotated source: motor peripheral neuropathy
annotated property: IAO_0000115
annotated target: A neuropathy that is characterized by inflammation or degeneration of the peripheral motor nerves.
has db xref: url:https://www.ninds.nih.gov/health-information/disorders/peripheral-neuropathy

Axiom
annotated source: motor peripheral neuropathy
annotated property: hasExactSynonym
annotated target: HSMN
has synonym type: OMO_0003012

trachea leiomyoma
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A respiratory system benign neoplasm that derives_from smooth muscle cells and is located_in the trachea.
has alternative id: DOID:246
has db xref: MESH:D014134
has db xref: NCI:C3419
has db xref: NCI:C6049
has db xref: SNOMEDCT_US_2023_03_01:126703006
has db xref: UMLS_CUI:C0040582
has db xref: UMLS_CUI:C1336772
has exact synonym: leiomyoma of the Trachea
has OBO namespace: disease_ontology
id: DOID:248
in subset: NCIthesaurus

Axiom
annotated source: trachea leiomyoma
annotated property: IAO_0000115
annotated target: A respiratory system benign neoplasm that derives_from smooth muscle cells and is located_in the trachea.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/26026331

phosphorus metabolism disease
type: Class
subclass of: disease of metabolism
has db xref: ICD9CM:275.3
has db xref: MESH:D010760
has db xref: NCI:C97095
has db xref: SNOMEDCT_US_2023_03_01:190858002
has db xref: UMLS_CUI:C0031707
has exact synonym: Phosphorus disorder
has exact synonym: disorder of phosphorus metabolism
has exact synonym: phosphorus metabolism disorder
has OBO namespace: disease_ontology
id: DOID:2485
in subset: NCIthesaurus

sensory peripheral neuropathy
type: Class
subclass of: DOID 870
IAO_0000115: A neuropathy that involves damage to sensory nerves of the peripheral nervous system.
has alternative id: DOID:10596
has db xref: ICD9CM:356.2
has db xref: MESH:D009477
has db xref: NCI:C3501
has db xref: SNOMEDCT_US_2023_03_01:193163001
has db xref: SNOMEDCT_US_2023_03_01:95662005
has db xref: UMLS_CUI:C0151313
has db xref: UMLS_CUI:C0699739
has exact synonym: peripheral Sensory Neuropathy
has exact synonym: sensory neuropathy
has OBO namespace: disease_ontology
id: DOID:2491
in subset: NCIthesaurus

Axiom
annotated source: sensory peripheral neuropathy
annotated property: IAO_0000115
annotated target: A neuropathy that involves damage to sensory nerves of the peripheral nervous system.
type: ECO_0007637
has db xref: url:https://www.mayoclinic.org/diseases-conditions/peripheral-neuropathy/symptoms-causes/syc-20352061
comment: ls:IEDB

gastric antral vascular ectasia
type: Class
subclass of: vascular disease
has db xref: MESH:D020252
has db xref: NCI:C84724
has db xref: SNOMEDCT_US_2023_03_01:412795008
has db xref: UMLS_CUI:C0267211
has exact synonym: Watermelon stomach
has OBO namespace: disease_ontology
id: DOID:2493
in subset: NCIthesaurus

senile angioma
type: Class
subclass of: skin benign neoplasm
has db xref: NCI:C4390
has db xref: SNOMEDCT_US_2023_03_01:5050001
has db xref: UMLS_CUI:C0343082
has exact synonym: Senile hemangioma
has exact synonym: Senile naevus of skin
has OBO namespace: disease_ontology
id: DOID:2495
in subset: NCIthesaurus

Takayasu's arteritis
type: Class
subclass of: DOID 865
IAO_0000115: A vasculitis that involves inflammation of the aorta that carries blood from the heart to the rest of the body.
has alternative id: DOID:13377
has db xref: GARD:7730
has db xref: ICD10CM:M31.4
has db xref: ICD9CM:446.7
has db xref: MESH:D001015
has db xref: MESH:D013625
has db xref: MIM:207600
has db xref: NCI:C34391
has db xref: NCI:C35062
has db xref: SNOMEDCT_US_2023_03_01:359789008
has db xref: SNOMEDCT_US_2023_03_01:42153001
has db xref: UMLS_CUI:C0003490
has db xref: UMLS_CUI:C0039263
has exact synonym: Aortic arch arteritis
has exact synonym: Idiopathic aortitis
has exact synonym: Takayasu arteritis
has exact synonym: Takayasu's disease
has exact synonym: aortic arch syndrome
has OBO namespace: disease_ontology
id: DOID:2508
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Takayasu's arteritis
annotated property: IAO_0000115
annotated target: A vasculitis that involves inflammation of the aorta that carries blood from the heart to the rest of the body.
type: ECO_0007640
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/001250.htm

Kluver-Bucy syndrome
type: Class
subclass of: impulse control disorder
IAO_0000115: An impulse control disorder that involves abnormalities in memory, social and sexual functioning and idiosyncratic behaviors resulting from damage from trauma or infection to both temporal lobes causing individuals to put objects in their mouths and engage in inappropriate sexual behavior.
has db xref: MESH:D020232
has db xref: NCI:C84802
has db xref: SNOMEDCT_US_2023_03_01:10651001
has db xref: UMLS_CUI:C0270707
has exact synonym: Klver-Bucy syndrome
has OBO namespace: disease_ontology
id: DOID:2510
in subset: NCIthesaurus

Axiom
annotated source: Kluver-Bucy syndrome
annotated property: IAO_0000115
annotated target: An impulse control disorder that involves abnormalities in memory, social and sexual functioning and idiosyncratic behaviors resulting from damage from trauma or infection to both temporal lobes causing individuals to put objects in their mouths and engage in inappropriate sexual behavior.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Kl%C3%BCver%E2%80%93Bucy_syndrome
has db xref: url:http://www.ninds.nih.gov/disorders/kluver_bucy/kluver_bucy.htm

nevoid basal cell carcinoma syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by multiple early-onset basal cell carcinoma, multiple jaw keratocysts and skeletal abnormalities.
has db xref: GARD:7166
has db xref: MEDDRA:10062804
has db xref: MESH:D001478
has db xref: MIM:PS109400
has db xref: NCI:C2892
has db xref: ORDO:377
has db xref: SNOMEDCT_US_2023_03_01:69408002
has db xref: UMLS_CUI:C0004779
has exact synonym: Gorlin syndrome
has exact synonym: NBCCS
has exact synonym: basal cell nevus syndrome
has OBO namespace: disease_ontology
id: DOID:2512
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: nevoid basal cell carcinoma syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by multiple early-onset basal cell carcinoma, multiple jaw keratocysts and skeletal abnormalities.
type: ECO_0007640
type: ECO_0007645
has db xref: url:https://medlineplus.gov/genetics/condition/gorlin-syndrome/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/11932998/

Axiom
annotated source: nevoid basal cell carcinoma syndrome
annotated property: hasExactSynonym
annotated target: NBCCS
has synonym type: OMO_0003012

basal cell carcinoma
type: Class
subclass of: skin carcinoma
IAO_0000115: A skin carcinoma affecting basal cells.
has alternative id: DOID:4275
has alternative id: DOID:4276
has db xref: EFO:0004193
has db xref: ICDO:8090/3
has db xref: KEGG:05217
has db xref: MESH:D018295
has db xref: NCI:C156767
has db xref: NCI:C3784
has db xref: NCI:C7586
has db xref: SNOMEDCT_US_2023_03_01:127570002
has db xref: SNOMEDCT_US_2023_03_01:154507009
has db xref: SNOMEDCT_US_2023_03_01:252995000
has db xref: UMLS_CUI:C0007117
has db xref: UMLS_CUI:C0206710
has db xref: UMLS_CUI:C1368295
has exact synonym: Basal cell cancer
has exact synonym: Basal cell carcinoma of skin
has exact synonym: Basal cell neoplasm
has exact synonym: Basal cell tumor
has exact synonym: Epithelioma basal cell
has exact synonym: Rodent ulcer
has exact synonym: malignant Basal cell neoplasm
has exact synonym: malignant basal cell tumor
has OBO namespace: disease_ontology
id: DOID:2513
in subset: DO RAD slim
in subset: DO cancer slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: basal cell carcinoma
annotated property: IAO_0000115
annotated target: A skin carcinoma affecting basal cells.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Basal-cell_carcinoma

intracranial cavernous angioma
type: Class
subclass of: intracranial structure hemangioma
has db xref: NCI:C5432
has db xref: SNOMEDCT_US_2023_03_01:445513004
has db xref: UMLS_CUI:C1334237
has exact synonym: intracranial Cavernoma
has OBO namespace: disease_ontology
id: DOID:2516
in subset: NCIthesaurus

intracranial structure hemangioma
type: Class
subclass of: hemangioma
has db xref: ICD10CM:D18.02
has db xref: ICD9CM:228.02
has db xref: NCI:C3633
has db xref: SNOMEDCT_US_2023_03_01:93468003
has db xref: UMLS_CUI:C0154050
has exact synonym: Angioma of intracranial Structure
has exact synonym: hemangioma of intracranial structure
has exact synonym: hemangioma of intracranial structures
has OBO namespace: disease_ontology
id: DOID:2517
in subset: NCIthesaurus

orchitis
type: Class
subclass of: testicular disease
has db xref: ICD10CM:N45.2
has db xref: MESH:D009920
has db xref: NCI:C97145
has db xref: SNOMEDCT_US_2023_03_01:367112009
has db xref: UMLS_CUI:C0029191
has exact synonym: Inflammation of testis
has exact synonym: Orchititis
has OBO namespace: disease_ontology
id: DOID:2518
in subset: NCIthesaurus

testicular disease
type: Class
subclass of: reproductive system disease
has db xref: MESH:D013733
has db xref: NCI:C26890
has db xref: SNOMEDCT_US_2023_03_01:236763001
has db xref: UMLS_CUI:C0039584
has exact synonym: disorder of testis
has exact synonym: testis disorder
has OBO namespace: disease_ontology
id: DOID:2519
in subset: NCIthesaurus

prostate adenocarcinoma
type: Class
subclass of: prostate carcinoma
IAO_0000115: A prostate carcinoma that derives_from epithelial cells of glandular origin.
has db xref: NCI:C2919
has db xref: SNOMEDCT_US_2023_03_01:399490008
has db xref: UMLS_CUI:C0007112
has OBO namespace: disease_ontology
id: DOID:2526
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: prostate adenocarcinoma
annotated property: IAO_0000115
annotated target: A prostate carcinoma that derives_from epithelial cells of glandular origin.
type: ECO_0007638
has db xref: url:http://cancergenome.nih.gov/cancersselected/prostatecancer
has db xref: url:http://en.wikipedia.org/wiki/Adenocarcinoma
has db xref: url:http://en.wikipedia.org/wiki/Prostate_cancer

splenic disease
type: Class
subclass of: disease
has alternative id: DOID:0000815
has db xref: ICD10CM:D73
has db xref: ICD9CM:289.50
has db xref: MESH:D013158
has db xref: NCI:C35823
has db xref: SNOMEDCT_US_2023_03_01:51244008
has db xref: UMLS_CUI:C0037997
has exact synonym: Dyssplenism
has exact synonym: Spleen disease
has OBO namespace: disease_ontology
id: DOID:2529
in subset: NCIthesaurus

splenic abscess
type: Class
subclass of: splenic disease
has db xref: ICD10CM:D73.3
has db xref: NCI:C35347
has db xref: SNOMEDCT_US_2023_03_01:82053000
has db xref: UMLS_CUI:C0272412
has OBO namespace: disease_ontology
id: DOID:2530
in subset: NCIthesaurus

hematologic cancer
type: Class
subclass of: cancer
IAO_0000115: An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes.
has alternative id: DOID:1034
has alternative id: DOID:2532
has db xref: MESH:D019337
has db xref: NCI:C27134
has db xref: SNOMEDCT_US_2023_03_01:414388001
has db xref: UMLS_CUI:C0376544
has exact synonym: Hematologic malignancy
has exact synonym: Hematologic neoplasm
has exact synonym: Hematological tumors
has exact synonym: blood cancer
has exact synonym: hematopoietic and lymphoid system tumor
has exact synonym: hematopoietic cancer
has exact synonym: hematopoietic neoplasm
has exact synonym: hematopoietic tumors
has exact synonym: malignant hematopoietic neoplasm
has OBO namespace: disease_ontology
id: DOID:2531
in subset: DO CFDE slim
in subset: DO FlyBase slim
in subset: DO RAD slim
in subset: DO cancer slim
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim

Axiom
annotated source: hematologic cancer
annotated property: IAO_0000115
annotated target: An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007641
has db xref: url:http://en.wikipedia.org/wiki/Blood_cancer
has db xref: url:http://www.cancer.gov/dictionary/?CdrID=45708

chronic inflammatory demyelinating polyneuritis
type: Class
subclass of: DOID 870
has db xref: ICD10CM:G61.81
has db xref: ICD9CM:357.81
has db xref: MESH:D020277
has db xref: NCI:C84636
has db xref: SNOMEDCT_US_2023_03_01:128209004
has db xref: UMLS_CUI:C0393819
has OBO namespace: disease_ontology
id: DOID:2536
in subset: NCIthesaurus

Landau-Kleffner syndrome
type: Class
subclass of: epilepsy
IAO_0000115: A childhood electroclinical syndrome that is characterized by the loss of language comprehension (auditory verbal agnosia) and verbal expression (aphasia) in association with severely abnormal electroencephalographic (EEG) findings during sleep and clinical seizures in most patients.
has db xref: GARD:6855
has db xref: ICD10CM:G40.8
has db xref: MESH:D018887
has db xref: MIM:245570
has db xref: NCI:C84806
has db xref: ORDO:98818
has db xref: SNOMEDCT_US_2023_03_01:230438007
has db xref: UMLS_CUI:C0282512
has exact synonym: acquired epileptic aphasia
has OBO namespace: disease_ontology
id: DOID:2538
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Landau-Kleffner syndrome
annotated property: IAO_0000115
annotated target: A childhood electroclinical syndrome that is characterized by the loss of language comprehension (auditory verbal agnosia) and verbal expression (aphasia) in association with severely abnormal electroencephalographic (EEG) findings during sleep and clinical seizures in most patients.
has db xref: url:https://rarediseases.org/rare-diseases/landau-kleffner-syndrome/

hemangioma of intra-abdominal structure
type: Class
subclass of: hemangioma
has db xref: ICD10CM:D18.03
has db xref: ICD9CM:228.04
has db xref: NCI:C3635
has db xref: SNOMEDCT_US_2023_03_01:93467008
has db xref: UMLS_CUI:C0154052
has exact synonym: hemangioma of intra-abdominal structures
has exact synonym: hemangioma, Intra-abdominal
has OBO namespace: disease_ontology
id: DOID:254
in subset: NCIthesaurus

extratemporal epilepsy
type: Class
subclass of: epilepsy
IAO_0000115: An epilepsy syndrome that is located_in an area of the brain other than the temporal lobe.
has db xref: NCI:C7760
has db xref: SNOMEDCT_US_2023_03_01:111498005
has db xref: UMLS_CUI:C0270849
has OBO namespace: disease_ontology
id: DOID:2544
in subset: NCIthesaurus

Axiom
annotated source: extratemporal epilepsy
annotated property: IAO_0000115
annotated target: An epilepsy syndrome that is located_in an area of the brain other than the temporal lobe.
type: ECO_0007637
has db xref: url:http://www.webmd.com/epilepsy/extratemporal-cortical-resection

reflex epilepsy
type: Class
subclass of: epilepsy
IAO_0000115: A variable age at onset electroclinical syndrome that is consistently induced by identifiable and objective-specific triggers, which may be an afferent stimulus or by the patient's own activity.
has db xref: MESH:D020195
has db xref: NCI:C85041
has db xref: SNOMEDCT_US_2023_03_01:79745005
has db xref: UMLS_CUI:C0270857
has exact synonym: epilepsy, sensory-induced
has OBO namespace: disease_ontology
id: DOID:2548
in subset: NCIthesaurus

Axiom
annotated source: reflex epilepsy
annotated property: IAO_0000115
annotated target: A variable age at onset electroclinical syndrome that is consistently induced by identifiable and objective-specific triggers, which may be an afferent stimulus or by the patient's own activity.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5779309/

hemangioma
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A cardiovascular organ benign neoplasm that has_material_basis_in endothelial cells that line blood vessels and is characterized by increased number of normal or abnormal vessels filled with blood.
has db xref: ICD10CM:D18.0
has db xref: ICD9CM:228.00
has db xref: ICDO:9120/0
has db xref: MESH:D006391
has db xref: NCI:C3085
has db xref: SNOMEDCT_US_2023_03_01:154625006
has db xref: UMLS_CUI:C0018916
has OBO namespace: disease_ontology
id: DOID:255
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: hemangioma
annotated property: IAO_0000115
annotated target: A cardiovascular organ benign neoplasm that has_material_basis_in endothelial cells that line blood vessels and is characterized by increased number of normal or abnormal vessels filled with blood.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Hemangioma

tactile epilepsy
type: Class
subclass of: reflex epilepsy
has db xref: NCI:C4687
has db xref: SNOMEDCT_US_2023_03_01:230449001
has db xref: UMLS_CUI:C0393724
has OBO namespace: disease_ontology
id: DOID:2550
in subset: NCIthesaurus

granulomatous angiitis
type: Class
subclass of: DOID 865
has db xref: MESH:D020293
has db xref: NCI:C34653
has db xref: SNOMEDCT_US_2023_03_01:1260127003
has db xref: UMLS_CUI:C0018202
has OBO namespace: disease_ontology
id: DOID:2555
in subset: NCIthesaurus

relapsing polychondritis
type: Class
subclass of: DOID 65
IAO_0000115: A chondromalacia that is characterized by recurrent inflammation of cartilage and other tissues throughout the body.
has db xref: GARD:7417
has db xref: ICD10CM:M94.1
has db xref: MESH:D011081
has db xref: NCI:C157268
has db xref: SNOMEDCT_US_2023_03_01:72275000
has db xref: UMLS_CUI:C0032453
has exact synonym: Chondromalacia, systemic
has OBO namespace: disease_ontology
id: DOID:2556
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: relapsing polychondritis
annotated property: IAO_0000115
annotated target: A chondromalacia that is characterized by recurrent inflammation of cartilage and other tissues throughout the body.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/26711694/
has db xref: url:https://rarediseases.info.nih.gov/diseases/7417/relapsing-polychondritis

hemangioma of spleen
type: Class
subclass of: splenic disease
has db xref: NCI:C8541
has db xref: SNOMEDCT_US_2023_03_01:93472004
has db xref: UMLS_CUI:C0685201
has exact synonym: Splenic hemangioma
has OBO namespace: disease_ontology
id: DOID:256
in subset: NCIthesaurus

suppurative periapical periodontitis
type: Class
subclass of: DOID 824
has db xref: MESH:D010482
has db xref: NCI:C34913
has db xref: SNOMEDCT_US_2023_03_01:34597006
has db xref: UMLS_CUI:C0031024
has exact synonym: Apical abscess
has exact synonym: Dentoalveolar abscess
has exact synonym: Periapical abscess
has exact synonym: Suppurative apical periodontitis
has OBO namespace: disease_ontology
id: DOID:2562
in subset: NCIthesaurus

macular corneal dystrophy
type: Class
subclass of: corneal dystrophy
IAO_0000115: A corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea.
has db xref: ICD10CM:H18.55
has db xref: ICD9CM:371.55
has db xref: MESH:D003317
has db xref: MIM:217800
has db xref: NCI:C34793
has db xref: SNOMEDCT_US_2023_03_01:60258001
has db xref: UMLS_CUI:C0024439
has exact synonym: Fehr corneal dystrophy
has exact synonym: MACULAR DYSTROPHY, CORNEAL, 1
has OBO namespace: disease_ontology
id: DOID:2565
in subset: NCIthesaurus

Axiom
annotated source: macular corneal dystrophy
annotated property: IAO_0000115
annotated target: A corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea.
type: ECO_0007636
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://disorders.eyes.arizona.edu/disorders/corneal-dystrophy-macular
has db xref: url:http://en.wikipedia.org/wiki/Macular_corneal_dystrophy
has db xref: url:http://www.omim.org/entry/217800?search=217800&highlight=217800
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/11017086
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/17093400

corneal dystrophy
type: Class
subclass of: corneal disease
has alternative id: DOID:8944
has db xref: ICD10CM:H18.5
has db xref: ICD9CM:371.5
has db xref: MESH:D003317
has db xref: NCI:C34512
has db xref: NCI:C34513
has db xref: SNOMEDCT_US_2023_03_01:5587004
has db xref: SNOMEDCT_US_2023_03_01:77797009
has db xref: UMLS_CUI:C0010035
has db xref: UMLS_CUI:C0010036
has OBO namespace: disease_ontology
id: DOID:2566
in subset: NCIthesaurus

cervicitis
type: Class
subclass of: cervix disease
IAO_0000115: A cervix disease that is characterized by inflammation of the cervix.
has alternative id: DOID:10110
has db xref: ICD10CM:N72
has db xref: ICD9CM:616.0
has db xref: MESH:D002575
has db xref: NCI:C26716
has db xref: SNOMEDCT_US_2023_03_01:198199009
has db xref: SNOMEDCT_US_2023_03_01:237081003
has db xref: UMLS_CUI:C0007860
has db xref: UMLS_CUI:C0007861
has OBO namespace: disease_ontology
id: DOID:2568
in subset: NCIthesaurus

Axiom
annotated source: cervicitis
annotated property: IAO_0000115
annotated target: A cervix disease that is characterized by inflammation of the cervix.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/23584805

Langerhans-cell histiocytosis
type: Class
subclass of: histiocytosis
IAO_0000115: A histiocytosis that is characterized by clonal proliferation of Langerhans cells.
has alternative id: DOID:10617
has alternative id: DOID:10618
has alternative id: DOID:10620
has alternative id: DOID:10623
has alternative id: DOID:10624
has alternative id: DOID:10625
has alternative id: DOID:2553
has alternative id: DOID:2554
has alternative id: DOID:9582
has db xref: ICD10CM:C96.0
has db xref: ICD10CM:C96.6
has db xref: ICD9CM:202.5
has db xref: ICDO:9751/1
has db xref: MESH:C538636
has db xref: MESH:D006646
has db xref: MIM:246400
has db xref: MIM:604856
has db xref: NCI:C3107
has db xref: NCI:C3160
has db xref: SNOMEDCT_US_2023_03_01:154583006
has db xref: SNOMEDCT_US_2023_03_01:234439008
has db xref: UMLS_CUI:C0019621
has db xref: UMLS_CUI:C0023381
has exact synonym: Histiocytosis X
has exact synonym: Langerhan's cell histiocytosis
has exact synonym: Langerhans cell granulomatosis
has exact synonym: Letterer-Siwe disease
has exact synonym: Letterer-Siwe disease involving intra-abdominal lymph nodes
has exact synonym: Letterer-Siwe disease involving intrapelvic lymph nodes
has exact synonym: Letterer-Siwe disease involving intrathoracic lymph nodes
has exact synonym: Letterer-Siwe disease involving lymph nodes of axilla and upper limb
has exact synonym: Letterer-Siwe disease involving lymph nodes of head, face and neck
has exact synonym: Letterer-Siwe disease involving lymph nodes of head, face, and neck
has exact synonym: Letterer-Siwe disease involving lymph nodes of inguinal region and lower limb
has exact synonym: Letterer-Siwe disease involving lymph nodes of multiple sites
has exact synonym: Letterer-Siwe disease involving spleen
has exact synonym: Letterer-Siwe disease of intra-abdominal lymph nodes
has exact synonym: Letterer-Siwe disease of intrapelvic lymph nodes
has exact synonym: Letterer-Siwe disease of intrathoracic lymph nodes
has exact synonym: Letterer-Siwe disease of lymph nodes of axilla and upper limb
has exact synonym: Letterer-Siwe disease of lymph nodes of axilla and/or upper limb
has exact synonym: Letterer-Siwe disease of lymph nodes of head, face and neck
has exact synonym: Letterer-Siwe disease of lymph nodes of head, face and/or neck
has exact synonym: Letterer-Siwe disease of lymph nodes of inguinal region amd/or lower limb
has exact synonym: Letterer-Siwe disease of lymph nodes of inguinal region and lower limb
has exact synonym: Letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb
has exact synonym: Letterer-Siwe disease of lymph nodes of multiple sites
has exact synonym: Letterer-Siwe disease of spleen
has OBO namespace: disease_ontology
id: DOID:2571
in subset: DO cancer slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Langerhans-cell histiocytosis
annotated property: IAO_0000115
annotated target: A histiocytosis that is characterized by clonal proliferation of Langerhans cells.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Langerhans_cell_histiocytosis

rhizomelic chondrodysplasia punctata
type: Class
subclass of: chondrodysplasia punctata
IAO_0000115: A chondrodysplasia punctata that is characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity.
has db xref: GARD:13160
has db xref: ICD10CM:E71.540
has db xref: MESH:D018902
has db xref: MIM:PS215100
has db xref: NCI:C85047
has db xref: ORDO:177
has db xref: SNOMEDCT_US_2023_03_01:56692003
has db xref: UMLS_CUI:C0282529
has exact synonym: Chondrodysplasia Punctata, Rhizomelic Form
has OBO namespace: disease_ontology
id: DOID:2580
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: rhizomelic chondrodysplasia punctata
annotated property: IAO_0000115
annotated target: A chondrodysplasia punctata that is characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/Rhizomelic_chondrodysplasia_punctata
has db xref: url:http://ghr.nlm.nih.gov/condition/rhizomelic-chondrodysplasia-punctata
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/15679822

chondrodysplasia punctata
type: Class
subclass of: syndrome
IAO_0000115: A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography.
has db xref: GARD:8542
has db xref: ICD10CM:Q77.3
has db xref: MESH:D002806
has db xref: MIM:215105
has db xref: NCI:C84632
has db xref: ORDO:93442
has db xref: SNOMEDCT_US_2023_03_01:205486004
has db xref: UMLS_CUI:C0008445
has exact synonym: Chondrodysplasia punctata congenita
has OBO namespace: disease_ontology
id: DOID:2581
in subset: DO rare slim
in subset: NCIthesaurus
comment: DeObs MGI.
narrow match: MESH:D002806

Axiom
annotated source: chondrodysplasia punctata
annotated property: IAO_0000115
annotated target: A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography.
type: ECO_0007638
type: ECO_0007645
has db xref: url:https://en.wikipedia.org/wiki/Chondrodysplasia_punctata#cite_note-Fitz2-1
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/22229330

acatalasia
type: Class
subclass of: DOID 906
IAO_0000115: A peroxisomal disease characterized by loss of catalase activity in erythrocytes that has_material_basis_in homozygous mutation in the CAT gene on chromosome 11p13.
has db xref: GARD:363
has db xref: MESH:D020642
has db xref: MIM:614097
has db xref: NCI:C84526
has db xref: ORDO:926
has db xref: SNOMEDCT_US_2023_03_01:190954001
has db xref: UMLS_CUI:C0268419
has exact synonym: acatalasemia
has exact synonym: deficiency of catalase
has OBO namespace: disease_ontology
id: DOID:2582
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: acatalasia
annotated property: IAO_0000115
annotated target: A peroxisomal disease characterized by loss of catalase activity in erythrocytes that has_material_basis_in homozygous mutation in the CAT gene on chromosome 11p13.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/1999334/

agammaglobulinemia
type: Class
subclass of: DOID 612
IAO_0000115: A B cell deficiency that is caused by a reduction in all types of gamma globulins.
has alternative id: DOID:618
has db xref: ICD10CM:D80.1
has db xref: ICD9CM:279.00
has db xref: MESH:D000361
has db xref: MIM:PS601495
has db xref: NCI:C26931
has db xref: SNOMEDCT_US_2023_03_01:119250001
has db xref: SNOMEDCT_US_2023_03_01:267512002
has db xref: UMLS_CUI:C0001768
has db xref: UMLS_CUI:C0086438
has exact synonym: IGHM
has exact synonym: hypogammaglobulinemia
has exact synonym: mu heavy chain deficiency
has OBO namespace: disease_ontology
id: DOID:2583
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: agammaglobulinemia
annotated property: IAO_0000115
annotated target: A B cell deficiency that is caused by a reduction in all types of gamma globulins.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Dysgammaglobulinemia

Axiom
annotated source: agammaglobulinemia
annotated property: hasExactSynonym
annotated target: IGHM
has synonym type: OMO_0003012

familial nephrotic syndrome
type: Class
subclass of: nephrotic syndrome
IAO_0000115: A nephrotic syndrome that has_material_basis_in genetic mutations.
has db xref: ICD10CM:N04
has db xref: MESH:C535761
has db xref: MIM:PS256300
has db xref: NCI:C35337
has db xref: SNOMEDCT_US_2023_03_01:48796009
has db xref: UMLS_CUI:C3501848
has exact synonym: Congenital nephrotic syndrome
has OBO namespace: disease_ontology
id: DOID:2590
in subset: NCIthesaurus

Axiom
annotated source: familial nephrotic syndrome
annotated property: IAO_0000115
annotated target: A nephrotic syndrome that has_material_basis_in genetic mutations.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/19066979

glottis cancer
type: Class
subclass of: larynx cancer
has db xref: ICD10CM:C32.0
has db xref: ICD9CM:161.0
has db xref: NCI:C3544
has db xref: SNOMEDCT_US_2023_03_01:187841006
has db xref: UMLS_CUI:C0153483
has exact synonym: Ca larynx - glottis
has exact synonym: malignant tumor of glottis
has exact synonym: malignant tumor of the Glottis
has OBO namespace: disease_ontology
id: DOID:2595
in subset: NCIthesaurus

larynx cancer
type: Class
subclass of: cancer
IAO_0000115: A respiratory system cancer that is located_in the larynx.
has db xref: GARD:6862
has db xref: ICD10CM:C32
has db xref: ICD9CM:161
has db xref: MESH:D007822
has db xref: NCI:C7484
has db xref: SNOMEDCT_US_2023_03_01:93859007
has db xref: UMLS_CUI:C0007107
has OBO namespace: disease_ontology
id: DOID:2596
in subset: DO rare slim
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim

Axiom
annotated source: larynx cancer
annotated property: IAO_0000115
annotated target: A respiratory system cancer that is located_in the larynx.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Larynx

glottis neoplasm
type: Class
subclass of: laryngeal benign neoplasm
has db xref: NCI:C4425
has db xref: SNOMEDCT_US_2023_03_01:126693009
has db xref: UMLS_CUI:C0345713
has exact synonym: neoplasm of glottis
has exact synonym: tumor of the Glottis
has OBO namespace: disease_ontology
id: DOID:2597
in subset: NCIthesaurus

laryngeal benign neoplasm
type: Class
subclass of: organ system benign neoplasm
has db xref: MESH:D007822
has db xref: NCI:C3156
has db xref: SNOMEDCT_US_2023_03_01:126692004
has db xref: UMLS_CUI:C0023055
has exact synonym: laryngeal tumor
has exact synonym: larynx neoplasm
has exact synonym: neoplasm of larynx
has OBO namespace: disease_ontology
id: DOID:2598
in subset: NCIthesaurus

glottis carcinoma
type: Class
subclass of: glottis cancer
has db xref: NCI:C4923
has db xref: SNOMEDCT_US_2023_03_01:372103002
has db xref: UMLS_CUI:C0740083
has exact synonym: Glottic carcinoma
has exact synonym: carcinoma of glottis
has OBO namespace: disease_ontology
id: DOID:2599
in subset: NCIthesaurus

laryngeal carcinoma
type: Class
subclass of: larynx cancer
IAO_0000115: A larynx cancer that has_material_basis_in epithelial cells.
has db xref: NCI:C4855
has db xref: SNOMEDCT_US_2023_03_01:154480006
has db xref: UMLS_CUI:C0595989
has exact synonym: cancer of larynx
has exact synonym: carcinoma of larynx
has OBO namespace: disease_ontology
id: DOID:2600
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: laryngeal carcinoma
annotated property: IAO_0000115
annotated target: A larynx cancer that has_material_basis_in epithelial cells.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Carcinoma

juxtacortical chondroma
type: Class
subclass of: chondroma
has db xref: NCI:C4302
has db xref: SNOMEDCT_US_2023_03_01:9266000
has db xref: UMLS_CUI:C0334548
has exact synonym: Periosteal Chondroma
has OBO namespace: disease_ontology
id: DOID:2601
in subset: NCIthesaurus

chondroma
type: Class
subclass of: disease
IAO_0000115: A cell type benign neoplasm that is a cartilaginous tumor encapsulated with a lobular growing pattern.
has db xref: GARD:6052
has db xref: ICDO:9220/0
has db xref: MESH:D002812
has db xref: NCI:C53459
has db xref: SNOMEDCT_US_2023_03_01:269638002
has db xref: UMLS_CUI:C0936248
has exact synonym: central Chondroma
has OBO namespace: disease_ontology
id: DOID:2602
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: chondroma
annotated property: IAO_0000115
annotated target: A cell type benign neoplasm that is a cartilaginous tumor encapsulated with a lobular growing pattern.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Chondroma

adenomyoma
type: Class
subclass of: disease
IAO_0000115: A cell type benign neoplasm that has_material_basis_in gland and muscle components.
has db xref: ICDO:8932/0
has db xref: MESH:D018194
has db xref: NCI:C3726
has db xref: SNOMEDCT_US_2023_03_01:40293003
has db xref: UMLS_CUI:C0206622
has OBO namespace: disease_ontology
id: DOID:2609
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: adenomyoma
annotated property: IAO_0000115
annotated target: A cell type benign neoplasm that has_material_basis_in gland and muscle components.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Adenomyoma

serous surface papilloma
type: Class
subclass of: papilloma
has db xref: ICDO:8461/0
has db xref: NCI:C4181
has db xref: SNOMEDCT_US_2023_03_01:67073007
has db xref: UMLS_CUI:C0334360
has OBO namespace: disease_ontology
id: DOID:2614
in subset: NCIthesaurus

papilloma
type: Class
subclass of: disease
IAO_0000115: A cell type benign neoplam that is composed of epithelial tissue on papillae of vascularized connective tissue.
has alternative id: DOID:1635
has db xref: ICDO:8050/0
has db xref: MESH:D010212
has db xref: NCI:C3713
has db xref: NCI:C7440
has db xref: SNOMEDCT_US_2023_03_01:711329002
has db xref: SNOMEDCT_US_2023_03_01:82049002
has db xref: UMLS_CUI:C0030354
has db xref: UMLS_CUI:C0205875
has exact synonym: papillomatosis
has OBO namespace: disease_ontology
id: DOID:2615
in subset: NCIthesaurus

Axiom
annotated source: papilloma
annotated property: IAO_0000115
annotated target: A cell type benign neoplam that is composed of epithelial tissue on papillae of vascularized connective tissue.
type: ECO_0007643
has db xref: url:http://www.merriam-webster.com/medlineplus/papilloma

kidney hemangiopericytoma
type: Class
subclass of: kidney cancer
IAO_0000115: A kidney cancer which is manifested in the kidney.
has db xref: NCI:C4527
has db xref: SNOMEDCT_US_2023_03_01:254923001
has db xref: UMLS_CUI:C0346256
has exact synonym: hemangiopericytoma of kidney
has exact synonym: renal hemangiopericytoma
has OBO namespace: disease_ontology
id: DOID:262
in subset: NCIthesaurus

Axiom
annotated source: kidney hemangiopericytoma
annotated property: IAO_0000115
annotated target: A kidney cancer which is manifested in the kidney.
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/Hemangiopericytoma
has db xref: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1466284/

autonomic nervous system neoplasm
type: Class
subclass of: peripheral nervous system neoplasm
IAO_0000115: A peripheral nervous system neoplasm that is located_in the autonomic nervous system.
has db xref: NCI:C5112
has db xref: UMLS_CUI:C1332356
has exact synonym: tumor of Autonomic nervous system
has OBO namespace: disease_ontology
id: DOID:2621
in subset: NCIthesaurus

Axiom
annotated source: autonomic nervous system neoplasm
annotated property: IAO_0000115
annotated target: A peripheral nervous system neoplasm that is located_in the autonomic nervous system.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Autonomic_nervous_system

choroid plexus papilloma
type: Class
subclass of: organ system benign neoplasm
has alternative id: DOID:3661
has db xref: GARD:4214
has db xref: ICDO:9390/0
has db xref: MESH:D020288
has db xref: MIM:260500
has db xref: NCI:C3698
has db xref: NCI:C5800
has db xref: SNOMEDCT_US_2023_03_01:18021007
has db xref: UMLS_CUI:C0205770
has db xref: UMLS_CUI:C1332963
has exact synonym: childhood choroid plexus papilloma
has OBO namespace: disease_ontology
id: DOID:2626
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

kidney cancer
type: Class
subclass of: cancer
IAO_0000115: A urinary system cancer that is located_in the kidney.
has alternative id: DOID:11834
has alternative id: DOID:3676
has db xref: ICD10CM:C64
has db xref: ICD9CM:189.0
has db xref: MESH:D007680
has db xref: NCI:C120456
has db xref: NCI:C3150
has db xref: NCI:C7548
has db xref: SNOMEDCT_US_2023_03_01:126880001
has db xref: SNOMEDCT_US_2023_03_01:93849006
has db xref: UMLS_CUI:C0022665
has db xref: UMLS_CUI:C0494158
has db xref: UMLS_CUI:C0740457
has exact synonym: malignant neoplasm of kidney except pelvis
has exact synonym: malignant tumour of kidney
has exact synonym: renal cancer
has OBO namespace: disease_ontology
id: DOID:263
in subset: DO CFDE slim
in subset: DO cancer slim
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim

Axiom
annotated source: kidney cancer
annotated property: IAO_0000115
annotated target: A urinary system cancer that is located_in the kidney.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Kidney_cancer

papillary serous adenocarcinoma
type: Class
subclass of: papillary adenocarcinoma
IAO_0000115: A papillary adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures with psammoma bodies.
has alternative id: DOID:5589
has db xref: NCI:C4182
has db xref: SNOMEDCT_US_2021_09_01:90725004
has exact synonym: Micropapillary serous carcinoma
has exact synonym: Papillary serous carcinoma
has exact synonym: serous surface papillary carcinoma
has OBO namespace: disease_ontology
id: DOID:2632
in subset: NCIthesaurus

Axiom
annotated source: papillary serous adenocarcinoma
annotated property: IAO_0000115
annotated target: A papillary adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures with psammoma bodies.
has db xref: url:https://www.ajronline.org/doi/10.2214/ajr.182.6.1821534

cystadenoma
type: Class
subclass of: DOID 657
IAO_0000115: An adenoma that forms a cyst.
has db xref: ICDO:8440/0
has db xref: MESH:D003537
has db xref: NCI:C2972
has db xref: SNOMEDCT_US_2023_03_01:189680006
has db xref: UMLS_CUI:C0010633
has exact synonym: Cystoma
has OBO namespace: disease_ontology
id: DOID:2634
in subset: NCIthesaurus

Axiom
annotated source: cystadenoma
annotated property: IAO_0000115
annotated target: An adenoma that forms a cyst.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Cystadenoma

ovarian Brenner tumor
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: An ovarian benign neoplasm that has_material_basis_in the surface epithelium of the ovary.
has db xref: GARD:9397
has db xref: MESH:D001948
has db xref: NCI:C39954
has db xref: UMLS_CUI:C0006160
has exact synonym: benign ovarian Brenner tumor
has exact synonym: benign ovarian Brenner tumour
has exact synonym: ovarian Brenner tumour
has OBO namespace: disease_ontology
id: DOID:2636
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: ovarian Brenner tumor
annotated property: IAO_0000115
annotated target: An ovarian benign neoplasm that has_material_basis_in the surface epithelium of the ovary.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Brenner_tumour

breast pericanalicular fibroadenoma
type: Class
subclass of: breast fibroadenoma
IAO_0000115: A breast fibroadenoma that is characterized by stromal proliferation around epithelial structures.
has db xref: NCI:C4272
has db xref: SNOMEDCT_US_2023_03_01:41382006
has db xref: UMLS_CUI:C0334497
has exact synonym: Pericanalicular Fibroadenoma of breast
has exact synonym: Pericanalicular fibroadenoma
has OBO namespace: disease_ontology
id: DOID:2639
in subset: NCIthesaurus

Axiom
annotated source: breast pericanalicular fibroadenoma
annotated property: IAO_0000115
annotated target: A breast fibroadenoma that is characterized by stromal proliferation around epithelial structures.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Fibroadenoma

hemangiopericytoma
type: Class
subclass of: hemangiopericytic tumor
IAO_0000115: A hemangiopericytic tumor that is a soft tissue sarcoma and originates in the pericytes in the walls of capillaries.
has alternative id: DOID:5372
has db xref: GARD:2627
has db xref: ICDO:9150/3
has db xref: MESH:D006393
has db xref: NCI:C3087
has db xref: SNOMEDCT_US_2023_03_01:134335004
has db xref: UMLS_CUI:C0018922
has exact synonym: Haemangiopericytic meningioma
has exact synonym: hemangiopericytoma, malignant
has exact synonym: malignant hemangiopericytoma
has OBO namespace: disease_ontology
id: DOID:264
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: hemangiopericytoma
annotated property: IAO_0000115
annotated target: A hemangiopericytic tumor that is a soft tissue sarcoma and originates in the pericytes in the walls of capillaries.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Hemangiopericytoma

struma ovarii
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: An ovarian benign neoplasm that is composed either exclusively or predominantly of thyroid tissue.
has alternative id: DOID:5209
has db xref: ICDO:9090/0
has db xref: MESH:D013330
has db xref: NCI:C7468
has db xref: SNOMEDCT_US_2023_03_01:24327009
has db xref: UMLS_CUI:C0038478
has OBO namespace: disease_ontology
has related synonym: benign struma ovarii
id: DOID:2640
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: struma ovarii
annotated property: IAO_0000115
annotated target: An ovarian benign neoplasm that is composed either exclusively or predominantly of thyroid tissue.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/25640097
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/26374222

ovarian germ cell monodermal and highly specialized teratoma
type: Class
subclass of: DOID 5207
IAO_0000115: A monodermal teratoma that has_material_basis_in germ cells that are highly specialized and is located_in the ovary.
has db xref: NCI:C8113
has db xref: UMLS_CUI:C0280134
has exact synonym: Ovarian Monodermal and Highly Specialized teratoma
has OBO namespace: disease_ontology
id: DOID:2641
in subset: NCIthesaurus

Axiom
annotated source: ovarian germ cell monodermal and highly specialized teratoma
annotated property: IAO_0000115
annotated target: A monodermal teratoma that has_material_basis_in germ cells that are highly specialized and is located_in the ovary.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/12440821

perivascular epithelioid cell tumor
type: Class
subclass of: perivascular tumor
has db xref: MESH:D054973
has db xref: NCI:C38150
has db xref: SNOMEDCT_US_2023_03_01:388601000
has db xref: UMLS_CUI:C1300127
has exact synonym: PEComa
has exact synonym: neoplasm with Perivascular epithelioid cell differentiation
has OBO namespace: disease_ontology
id: DOID:2643
in subset: DO cancer slim
in subset: NCIthesaurus

benign mesothelioma
type: Class
subclass of: disease
IAO_0000115: A cell type benign neoplasm that has_material_basis_in mesothelium.
has alternative id: DOID:2644
has db xref: ICD10CM:C45
has db xref: MESH:D008654
has db xref: NCI:C3234
has db xref: SNOMEDCT_US_2023_03_01:154491004
has db xref: UMLS_CUI:C0025500
has exact synonym: benign tumor of Mesothelium
has OBO namespace: disease_ontology
id: DOID:2645
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: benign mesothelioma
annotated property: IAO_0000115
annotated target: A cell type benign neoplasm that has_material_basis_in mesothelium.
type: ECO_0007637
has db xref: url:http://www.mayoclinic.org/diseases-conditions/mesothelioma/basics/definition/con-20026157?_ga=1.105809091.1500897651.1410548817

parachordoma
type: Class
subclass of: mesenchymal cell neoplasm
has db xref: ICDO:9373/0
has db xref: NCI:C6581
has db xref: SNOMEDCT_US_2023_03_01:404086000
has db xref: UMLS_CUI:C1266175
has OBO namespace: disease_ontology
id: DOID:2647
in subset: DO cancer slim
in subset: NCIthesaurus

sebaceous adenoma
type: Class
subclass of: DOID 5759
has alternative id: DOID:7387
has db xref: NCI:C4174
has db xref: SNOMEDCT_US_2023_03_01:78424008
has db xref: UMLS_CUI:C1368816
has exact synonym: adenoma of the Sebaceous gland
has exact synonym: skin appendage sebaceous adenoma
has OBO namespace: disease_ontology
id: DOID:2648
in subset: NCIthesaurus

chondroblastoma
type: Class
subclass of: connective tissue benign neoplasm
IAO_0000115: A connective tissue benign neoplasm that derives_from chondroblasts and begins in cartilage at the ends of long bones (thighbone, shinbone, humerus) close to the joints.
has db xref: GARD:6047
has db xref: ICDO:9230/1
has db xref: MESH:D002804
has db xref: NCI:C2945
has db xref: SNOMEDCT_US_2023_03_01:9001003
has db xref: UMLS_CUI:C0008441
has exact synonym: Chondroblastoma of bone
has OBO namespace: disease_ontology
id: DOID:2649
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: chondroblastoma
annotated property: IAO_0000115
annotated target: A connective tissue benign neoplasm that derives_from chondroblasts and begins in cartilage at the ends of long bones (thighbone, shinbone, humerus) close to the joints.
has db xref: url:https://www.hopkinsmedicine.org/health/conditions-and-diseases/chondroblastoma
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK536947/

spleen angiosarcoma
type: Class
subclass of: angiosarcoma
IAO_0000115: An angiosarcoma and hemangioma of intra-abdominal structure and malignant soft tissue neoplasm of the spleen that results_in a nonhematolymphoid malignant neoplasm of the spleen.
has db xref: NCI:C4564
has db xref: SNOMEDCT_US_2023_03_01:187821001
has db xref: UMLS_CUI:C0346424
has exact synonym: Splenic hemangiosarcoma
has exact synonym: angiosarcoma of spleen
has OBO namespace: disease_ontology
id: DOID:265
in subset: NCIthesaurus

Axiom
annotated source: spleen angiosarcoma
annotated property: IAO_0000115
annotated target: An angiosarcoma and hemangioma of intra-abdominal structure and malignant soft tissue neoplasm of the spleen that results_in a nonhematolymphoid malignant neoplasm of the spleen.
type: ECO_0007645
has db xref: url:https://pubs.rsna.org/doi/full/10.1148/radiol.2351040308

benign fibrous mesothelioma
type: Class
subclass of: benign mesothelioma
has db xref: MESH:D054363
has db xref: NCI:C4457
has db xref: SNOMEDCT_US_2023_03_01:15702005
has db xref: UMLS_CUI:C0334511
has exact synonym: fibrous mesothelioma, benign
has exact synonym: localized benign fibrous Mesothelioma
has OBO namespace: disease_ontology
id: DOID:2653
in subset: NCIthesaurus

breast intracanalicular fibroadenoma
type: Class
subclass of: breast fibroadenoma
IAO_0000115: A breast fibroadenoma that is characterized by stromal proliferation compressing the epithelial structures into clefts.
has db xref: NCI:C4271
has db xref: SNOMEDCT_US_2023_03_01:72905006
has db xref: UMLS_CUI:C0334496
has OBO namespace: disease_ontology
id: DOID:2656
in subset: NCIthesaurus

Axiom
annotated source: breast intracanalicular fibroadenoma
annotated property: IAO_0000115
annotated target: A breast fibroadenoma that is characterized by stromal proliferation compressing the epithelial structures into clefts.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Fibroadenoma

dermoid cyst
type: Class
subclass of: cystic teratoma
IAO_0000115: A cystic teratoma that is composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm).
has db xref: ICD10CM:K09.8
has db xref: ICDO:9084/0
has db xref: MESH:D003884
has db xref: NCI:C9011
has db xref: SNOMEDCT_US_2023_03_01:189117002
has db xref: UMLS_CUI:C0011649
has exact synonym: Dermoid choristoma
has exact synonym: Dermoid tumour
has exact synonym: Mature cystic teratoma
has exact synonym: cystic dermoid choristoma
has exact synonym: teratoma, benign
has OBO namespace: disease_ontology
id: DOID:2658
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: dermoid cyst
annotated property: IAO_0000115
annotated target: A cystic teratoma that is composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm).
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Dermoid_cyst

cystic teratoma
type: Class
subclass of: benign teratoma
IAO_0000115: A benign teratoma that is characterized by the presence of cysts or cystic spaces.
has db xref: NCI:C9014
has db xref: SNOMEDCT_US_2023_03_01:42717009
has db xref: UMLS_CUI:C1368903
has OBO namespace: disease_ontology
id: DOID:2660
in subset: NCIthesaurus

Axiom
annotated source: cystic teratoma
annotated property: IAO_0000115
annotated target: A benign teratoma that is characterized by the presence of cysts or cystic spaces.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/23905455

myoepithelioma
type: Class
subclass of: sweat gland benign neoplasm
IAO_0000115: A sweat gland benign neoplasm that is composed_of outgrowths of myoepithelial cells from a sweat gland.
has db xref: ICDO:8982/0
has db xref: MESH:D009208
has db xref: NCI:C40392
has db xref: SNOMEDCT_US_2023_03_01:69291002
has db xref: UMLS_CUI:C0027070
has exact synonym: Myoepithelial adenoma
has exact synonym: Myoepithelial neoplasm
has exact synonym: benign myoepithelioma
has OBO namespace: disease_ontology
id: DOID:2661
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: myoepithelioma
annotated property: IAO_0000115
annotated target: A sweat gland benign neoplasm that is composed_of outgrowths of myoepithelial cells from a sweat gland.
type: ECO_0007641
has db xref: url:http://medical-dictionary.thefreedictionary.com/myoepithelioma

sweat gland benign neoplasm
type: Class
subclass of: skin benign neoplasm
has db xref: MESH:D013544
has db xref: NCI:C3398
has db xref: SNOMEDCT_US_2023_03_01:126490003
has db xref: UMLS_CUI:C0038987
has exact synonym: Sweat gland tumor
has exact synonym: neoplasm of sweat gland
has exact synonym: tumor of the Sweat gland
has OBO namespace: disease_ontology
id: DOID:2664
in subset: NCIthesaurus

mesenchymoma
type: Class
subclass of: cancer
has db xref: ICDO:8990/3
has db xref: MESH:D008637
has db xref: NCI:C3233
has db xref: SNOMEDCT_US_2023_03_01:44524009
has db xref: UMLS_CUI:C0025464
has OBO namespace: disease_ontology
id: DOID:2668
in subset: DO cancer slim
in subset: NCIthesaurus

Pacinian tumor
type: Class
subclass of: DOID 962
has db xref: ICDO:9507/0
has db xref: NCI:C4328
has db xref: SNOMEDCT_US_2023_03_01:4230004
has db xref: UMLS_CUI:C0334599
has exact synonym: Pacinian neurofibroma
has OBO namespace: disease_ontology
id: DOID:2669
in subset: DO cancer slim
in subset: NCIthesaurus

transitional papilloma
type: Class
subclass of: papilloma
has db xref: NCI:C4115
has db xref: SNOMEDCT_US_2023_03_01:44342003
has db xref: UMLS_CUI:C0334266
has exact synonym: transitional cell papilloma
has exact synonym: transitional cell papilloma, benign
has OBO namespace: disease_ontology
id: DOID:2670
in subset: NCIthesaurus

transitional cell carcinoma
type: Class
subclass of: carcinoma
IAO_0000115: A carcinoma that derives_from transitional epithelial cells.
has alternative id: DOID:3995
has db xref: GARD:7794
has db xref: ICDO:8120/3
has db xref: MESH:D002295
has db xref: NCI:C2930
has db xref: NCI:C6783
has db xref: SNOMEDCT_US_2023_03_01:118287003
has db xref: SNOMEDCT_US_2023_03_01:27090000
has db xref: UMLS_CUI:C0007138
has db xref: UMLS_CUI:C0334265
has exact synonym: transitional carcinoma
has exact synonym: transitional cell tumor
has exact synonym: urothelial cell carcinoma
has OBO namespace: disease_ontology
has related synonym: transitional cell neoplasm
id: DOID:2671
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: transitional cell carcinoma
annotated property: IAO_0000115
annotated target: A carcinoma that derives_from transitional epithelial cells.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Transitional_cell_carcinoma

adult cystic nephroma
type: Class
subclass of: kidney benign neoplasm
IAO_0000115: A nephroma that is characterized as a localized, well-circumscribed multilocular tumor lined by hobnail epithelium.
has db xref: NCI:C7504
has exact synonym: multilocular cystic nephroma, mixed epithelial stromal tumour and renal epithelial stromal tumour
has OBO namespace: disease_ontology
id: DOID:2673
in subset: NCIthesaurus

Axiom
annotated source: adult cystic nephroma
annotated property: IAO_0000115
annotated target: A nephroma that is characterized as a localized, well-circumscribed multilocular tumor lined by hobnail epithelium.
has db xref: url:http://www.pathologyoutlines.com/topic/kidneytumorcysticnephroma.html
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/27831959

dysembryoplastic neuroepithelial tumor
type: Class
subclass of: organ system benign neoplasm
has db xref: GARD:10640
has db xref: ICDO:9413/0
has db xref: NCI:C9505
has db xref: SNOMEDCT_US_2023_03_01:87211000119104
has db xref: UMLS_CUI:C1266177
has exact synonym: Dysembryoplastic Neuroepithelial neoplasm
has exact synonym: dysembryoplastic neuroepithelial tumour
has OBO namespace: disease_ontology
id: DOID:2679
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

liver angiosarcoma
type: Class
subclass of: angiosarcoma
IAO_0000115: An angiosarcoma and sarcoma of liver and hemangioma of intra-abdominal structure and Ca liver - primary that is located_in the liver.
has db xref: GARD:5813
has db xref: ICD10CM:C22.3
has db xref: NCI:C4438
has db xref: SNOMEDCT_US_2023_03_01:187770005
has db xref: UMLS_CUI:C0345907
has exact synonym: angiosarcoma of liver
has exact synonym: hemangiosarcoma of the Liver
has OBO namespace: disease_ontology
id: DOID:268
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: liver angiosarcoma
annotated property: IAO_0000115
annotated target: An angiosarcoma and sarcoma of liver and hemangioma of intra-abdominal structure and Ca liver - primary that is located_in the liver.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/30093472

ossifying fibromyxoid tumor
type: Class
subclass of: mesenchymal cell neoplasm
has db xref: ICDO:8842/0
has db xref: NCI:C6582
has db xref: SNOMEDCT_US_2023_03_01:404076001
has db xref: UMLS_CUI:C1266128
has exact synonym: Ossifying Fibromyxoma
has exact synonym: ossifying fibromyxoid tumour
has OBO namespace: disease_ontology
id: DOID:2685
in subset: DO cancer slim
in subset: NCIthesaurus

skin sarcoma
type: Class
subclass of: skin cancer
IAO_0000115: A sarcoma that is located_in the skin.
has db xref: NCI:C5585
has db xref: UMLS_CUI:C0856900
has exact synonym: Cutaneous sarcoma
has OBO namespace: disease_ontology
id: DOID:2687
in subset: NCIthesaurus

Axiom
annotated source: skin sarcoma
annotated property: IAO_0000115
annotated target: A sarcoma that is located_in the skin.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/21146736

lymphangiosarcoma
type: Class
subclass of: cancer
IAO_0000115: A lymphatic system cancer that has_material_basis_in endothelial cells located_in lymphatic vessels.
has alternative id: DOID:2686
has db xref: ICDO:9170/3
has db xref: MESH:C537491
has db xref: MESH:D008204
has db xref: NCI:C3205
has db xref: NCI:C4490
has db xref: SNOMEDCT_US_2023_03_01:403986008
has db xref: SNOMEDCT_US_2023_03_01:62497000
has db xref: UMLS_CUI:C0024224
has db xref: UMLS_CUI:C0346082
has exact synonym: Lymphangiosarcoma of Stewart and Treves
has exact synonym: Stewart-Treves syndrome
has exact synonym: malignant Lymphangioendothelioma
has exact synonym: skin lymphangiosarcoma
has OBO namespace: disease_ontology
id: DOID:2689
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: lymphangiosarcoma
annotated property: IAO_0000115
annotated target: A lymphatic system cancer that has_material_basis_in endothelial cells located_in lymphatic vessels.
type: ECO_0007638
type: ECO_0007645
has db xref: url:https://en.wikipedia.org/wiki/Lymphangiosarcoma
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/9796078

myoma
type: Class
subclass of: DOID 461
IAO_0000115: A muscle benign neoplasm that is characterized as benign hyperplastic lesions of uterine smooth muscle cells.
has db xref: ICD10CM:D21
has db xref: ICDO:8895/0
has db xref: MESH:D009214
has db xref: NCI:C4882
has db xref: SNOMEDCT_US_2023_03_01:66357004
has db xref: UMLS_CUI:C0027086
has exact synonym: benign neoplasm of the Muscle
has OBO namespace: disease_ontology
id: DOID:2691
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: myoma
annotated property: IAO_0000115
annotated target: A muscle benign neoplasm that is characterized as benign hyperplastic lesions of uterine smooth muscle cells.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/29789793

Leydig cell tumor
type: Class
subclass of: sex cord-gonadal stromal tumor
IAO_0000115: A sex cord-gonadal stromal tumor that secretes testosterone characterized by excessive proliferation of Leydig cells located_in ovary or testicle.
has alternative id: DOID:0050616
has db xref: MESH:D007984
has db xref: NCI:C3188
has db xref: NCI:C4213
has db xref: SNOMEDCT_US_2023_03_01:45002009
has db xref: SNOMEDCT_US_2023_03_01:77870005
has db xref: UMLS_CUI:C0023601
has db xref: UMLS_CUI:C0334410
has exact synonym: Leydig cell neoplasm
has OBO namespace: disease_ontology
id: DOID:2696
in subset: NCIthesaurus

Axiom
annotated source: Leydig cell tumor
annotated property: IAO_0000115
annotated target: A sex cord-gonadal stromal tumor that secretes testosterone characterized by excessive proliferation of Leydig cells located_in ovary or testicle.
has db xref: url:https://en.wikipedia.org/wiki/Leydig_cell_tumour

renal adenoma
type: Class
subclass of: kidney benign neoplasm
has db xref: NCI:C8383
has db xref: SNOMEDCT_US_2023_03_01:41627005
has db xref: UMLS_CUI:C0334684
has exact synonym: renal cell adenoma
has OBO namespace: disease_ontology
id: DOID:2697
in subset: NCIthesaurus

nephrogenic adenofibroma
type: Class
subclass of: kidney benign neoplasm
has db xref: NCI:C39812
has db xref: SNOMEDCT_US_2023_03_01:128760004
has db xref: UMLS_CUI:C1266141
has exact synonym: Metanephric adenofibroma
has OBO namespace: disease_ontology
id: DOID:2698
in subset: NCIthesaurus

liver sarcoma
type: Class
subclass of: liver cancer
IAO_0000115: A sarcoma and malignant non-epithelial hepatic and intrahepatic bile duct neoplasm sthat is located_in the liver.
has db xref: NCI:C4437
has db xref: SNOMEDCT_US_2023_03_01:254601002
has db xref: UMLS_CUI:C0345906
has exact synonym: hepatic sarcoma
has OBO namespace: disease_ontology
id: DOID:270
in subset: NCIthesaurus

Axiom
annotated source: liver sarcoma
annotated property: IAO_0000115
annotated target: A sarcoma and malignant non-epithelial hepatic and intrahepatic bile duct neoplasm sthat is located_in the liver.
has db xref: url:http://www.cancersupportivecare.com/liver.html

mucinous adenofibroma
type: Class
subclass of: disease
IAO_0000115: An adenofibroma that is characterized by the presence of mucin.
has db xref: ICDO:9015/0
has db xref: NCI:C8978
has db xref: SNOMEDCT_US_2023_03_01:10705005
has db xref: UMLS_CUI:C0334499
has OBO namespace: disease_ontology
id: DOID:2700
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: mucinous adenofibroma
annotated property: IAO_0000115
annotated target: An adenofibroma that is characterized by the presence of mucin.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3977110/

nodular tenosynovitis
type: Class
subclass of: connective tissue benign neoplasm
has alternative id: DOID:2665
has db xref: MESH:D000070779
has db xref: NCI:C3829
has db xref: NCI:C6532
has db xref: SNOMEDCT_US_2023_03_01:5178002
has db xref: SNOMEDCT_US_2023_03_01:71508003
has db xref: UMLS_CUI:C0221289
has db xref: UMLS_CUI:C0588125
has exact synonym: Synovioma, benign
has exact synonym: benign synovioma
has exact synonym: benign tumor of Synovium
has exact synonym: localized Giant cell tumor of Tenosynovium
has OBO namespace: disease_ontology
id: DOID:2701
in subset: NCIthesaurus

pigmented villonodular synovitis
type: Class
subclass of: synovitis
has db xref: GARD:7396
has db xref: ICD10CM:M12.2
has db xref: MESH:D013586
has db xref: NCI:C3401
has db xref: SNOMEDCT_US_2023_03_01:202903009
has db xref: UMLS_CUI:C0039106
has exact synonym: Diffuse Giant cell tumor of Tenosynovium
has exact synonym: villous tenosynovitis
has OBO namespace: disease_ontology
id: DOID:2702
in subset: DO rare slim
in subset: NCIthesaurus

synovitis
type: Class
subclass of: DOID 65
IAO_0000115: A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling.
has db xref: GARD:7722
has db xref: MESH:D013585
has db xref: NCI:C50766
has db xref: SNOMEDCT_US_2023_03_01:268092005
has db xref: UMLS_CUI:C0039103
has OBO namespace: disease_ontology
id: DOID:2703
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: synovitis
annotated property: IAO_0000115
annotated target: A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Synovitis
comment: sn:IEDB

malignant giant cell tumor of the tendon sheath
type: Class
subclass of: synovium cancer
has db xref: NCI:C6535
has db xref: SNOMEDCT_US_2023_03_01:128778009
has db xref: UMLS_CUI:C1266168
has exact synonym: Giant cell tumour of tendon sheath, malignant
has exact synonym: malignant Giant cell neoplasm of the Tendon Sheath
has OBO namespace: disease_ontology
id: DOID:2704
in subset: NCIthesaurus

malignant giant cell tumor
type: Class
subclass of: cancer
has db xref: NCI:C4090
has db xref: SNOMEDCT_US_2023_03_01:83950009
has db xref: UMLS_CUI:C0334229
has exact synonym: malignant Giant cell neoplasm
has exact synonym: malignant tumor, giant cell type
has OBO namespace: disease_ontology
id: DOID:2705
in subset: NCIthesaurus

synovium cancer
type: Class
subclass of: cancer
has db xref: NCI:C6531
has db xref: UMLS_CUI:C1334624
has exact synonym: malignant tumor of Synovium
has OBO namespace: disease_ontology
id: DOID:2706
in subset: NCIthesaurus

hemangioma of liver
type: Class
subclass of: DOID 916
has db xref: NCI:C3869
has db xref: SNOMEDCT_US_2023_03_01:93469006
has db xref: UMLS_CUI:C0238246
has exact synonym: Angioma of Liver
has exact synonym: hepatic angioma
has OBO namespace: disease_ontology
id: DOID:271
in subset: NCIthesaurus

phimosis
type: Class
subclass of: reproductive system disease
has db xref: ICD10CM:N47.1
has db xref: MESH:D010688
has db xref: NCI:C26852
has db xref: SNOMEDCT_US_2023_03_01:449826002
has db xref: UMLS_CUI:C0031538
has exact synonym: Tight foreskin
has exact synonym: Tight frenulum
has OBO namespace: disease_ontology
id: DOID:2712
in subset: NCIthesaurus

Bloom syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability.
has db xref: MESH:D001816
has db xref: MIM:210900
has db xref: NCI:C2903
has db xref: ORDO:125
has db xref: SNOMEDCT_US_2023_03_01:4434006
has db xref: UMLS_CUI:C0005859
has exact synonym: Bloom-Torre-Machacek syndrome
has exact synonym: Congenital Telangiectatic Erythema syndrome
has OBO namespace: disease_ontology
id: DOID:2717
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Bloom syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://ghr.nlm.nih.gov/condition/bloom-syndrome
has db xref: url:https://en.wikipedia.org/wiki/Bloom_syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/10823897
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/9482582

hepatic vascular disease
type: Class
subclass of: vascular disease
IAO_0000115: A vascular disease that is located_in the liver.
has db xref: NCI:C35442
has db xref: SNOMEDCT_US_2023_03_01:235878005
has db xref: UMLS_CUI:C0400923
has exact synonym: vascular disorder of liver
has OBO namespace: disease_ontology
id: DOID:272
in subset: NCIthesaurus

Axiom
annotated source: hepatic vascular disease
annotated property: IAO_0000115
annotated target: A vascular disease that is located_in the liver.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/21055687

acrodermatitis
type: Class
subclass of: dermatitis
IAO_0000115: A dermatitis that selectively affects the hands and feet.
has db xref: GARD:5722
has db xref: MESH:D000169
has db xref: NCI:C84532
has db xref: SNOMEDCT_US_2023_03_01:8197001
has db xref: UMLS_CUI:C0001197
has OBO namespace: disease_ontology
id: DOID:2722
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: acrodermatitis
annotated property: IAO_0000115
annotated target: A dermatitis that selectively affects the hands and feet.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Acrodermatitis

dermatitis
type: Class
subclass of: skin disease
IAO_0000115: A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin.
has alternative id: DOID:8614
has alternative id: DOID:8917
has db xref: ICD10CM:L30.9
has db xref: MESH:D003872
has db xref: NCI:C2983
has db xref: SNOMEDCT_US_2023_03_01:238538009
has db xref: UMLS_CUI:C0011603
has exact synonym: eczema
has exact synonym: skin inflammation
has OBO namespace: disease_ontology
id: DOID:2723
in subset: NCIthesaurus

Axiom
annotated source: dermatitis
annotated property: IAO_0000115
annotated target: A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin.
type: ECO_0007638
type: ECO_0007644
has db xref: url:http://en.wikipedia.org/wiki/Dermatitis
has db xref: url:http://www.nlm.nih.gov/medlineplus/eczema.html

capillary hemangioma
type: Class
subclass of: hemangioma
IAO_0000115: A hemangioma that is characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells.
has db xref: ICD10CM:Q82.5
has db xref: ICDO:9131/0
has db xref: MESH:D018324
has db xref: NCI:C7457
has db xref: SNOMEDCT_US_2023_03_01:56975005
has db xref: UMLS_CUI:C0206733
has exact synonym: Capillary haemangioma
has exact synonym: Congenital vascular hamartoma
has exact synonym: Congenital vascular naevus
has exact synonym: Infantile hemangioma
has exact synonym: Juvenile hemangioma
has exact synonym: Strawberry haemangioma
has exact synonym: Strawberry nevus
has exact synonym: Strawberry nevus of skin
has exact synonym: cellular hemangioma of Infancy
has OBO namespace: disease_ontology
id: DOID:2725
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: capillary hemangioma
annotated property: IAO_0000115
annotated target: A hemangioma that is characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells.
has db xref: url:https://eyewiki.aao.org/Capillary_Hemangioma

dyskeratosis congenita
type: Class
subclass of: skin disease
IAO_0000115: A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer.
has db xref: GARD:10905
has db xref: MESH:D019871
has db xref: MIM:PS127550
has db xref: NCI:C111802
has db xref: ORDO:1775
has db xref: SNOMEDCT_US_2023_03_01:74911008
has db xref: UMLS_CUI:C0265965
has exact synonym: DKCD
has OBO namespace: disease_ontology
id: DOID:2729
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping by NeuroDevNet. [LS].

Axiom
annotated source: dyskeratosis congenita
annotated property: IAO_0000115
annotated target: A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Dyskeratosis_congenita
has db xref: url:http://ghr.nlm.nih.gov/condition/dyskeratosis-congenita

Axiom
annotated source: dyskeratosis congenita
annotated property: hasExactSynonym
annotated target: DKCD
has synonym type: OMO_0003012

epidermolysis bullosa
type: Class
subclass of: dermatitis
IAO_0000115: A vesiculobullous skin disease that is characterized by formation of blisters with only minor skin trauma, which can cause widespread wounds, dehydration, electrolyte abnormalities, and severe infection, frequently develops_from mutations in connective tissue elements, including genes encoding keratin, collagen, and laminin.
has db xref: GARD:6359
has db xref: ICD10CM:Q81
has db xref: MESH:D004820
has db xref: NCI:C67383
has db xref: SNOMEDCT_US_2023_03_01:205580008
has db xref: UMLS_CUI:C0014527
has exact synonym: acantholysis bullosa
has OBO namespace: disease_ontology
id: DOID:2730
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: epidermolysis bullosa
annotated property: IAO_0000115
annotated target: A vesiculobullous skin disease that is characterized by formation of blisters with only minor skin trauma, which can cause widespread wounds, dehydration, electrolyte abnormalities, and severe infection, frequently develops_from mutations in connective tissue elements, including genes encoding keratin, collagen, and laminin.
type: ECO_0007636
has db xref: url:https://rarediseases.org/rare-diseases/epidermolysis-bullosa/

Rothmund-Thomson syndrome
type: Class
subclass of: skin disease
IAO_0000115: A skin disease characterized by poikiloderma, congenital bone defects, and an increased risk of osteosarcoma in childhood and skin cancer later in life that has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24.
has db xref: GARD:4392
has db xref: ICD10CM:Q82.8
has db xref: MESH:D011038
has db xref: MIM:268400
has db xref: NCI:C3335
has db xref: SNOMEDCT_US_2023_03_01:205572001
has db xref: UMLS_CUI:C0032339
has exact synonym: Congenital poikiloderma
has exact synonym: RTS
has OBO namespace: disease_ontology
id: DOID:2732
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Rothmund-Thomson syndrome
annotated property: IAO_0000115
annotated target: A skin disease characterized by poikiloderma, congenital bone defects, and an increased risk of osteosarcoma in childhood and skin cancer later in life that has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/20113479/

Axiom
annotated source: Rothmund-Thomson syndrome
annotated property: hasExactSynonym
annotated target: RTS
has synonym type: OMO_0003012

skin atrophy
type: Class
subclass of: skin disease
has db xref: ICD10CM:L90
has db xref: NCI:C35163
has db xref: SNOMEDCT_US_2023_03_01:16343004
has db xref: UMLS_CUI:C0151514
has exact synonym: Atrophoderma
has exact synonym: Atrophy - skin
has exact synonym: atrophic condition of skin
has OBO namespace: disease_ontology
id: DOID:2733
in subset: NCIthesaurus

keratosis follicularis
type: Class
subclass of: keratosis
has db xref: ICD10CM:E50.8
has db xref: MESH:D007644
has db xref: MIM:124200
has db xref: NCI:C84665
has db xref: SNOMEDCT_US_2023_03_01:157017000
has db xref: UMLS_CUI:C0022595
has exact synonym: DARIER-WHITE DISEASE
has exact synonym: Darier's disease
has OBO namespace: disease_ontology
id: DOID:2734
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Hajdu-Cheney syndrome
type: Class
subclass of: DOID 65
IAO_0000115: A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in the NOTCH2 gene on chromosome 1p12.
has alternative id: DOID:2735
has db xref: GARD:508
has db xref: MESH:D030981
has db xref: MESH:D031845
has db xref: MIM:102500
has db xref: NCI:C35545
has db xref: NCI:C84745
has db xref: SNOMEDCT_US_2023_03_01:63122002
has db xref: UMLS_CUI:C0917715
has db xref: UMLS_CUI:C0917990
has exact synonym: Cheney syndrome
has exact synonym: HJCYS
has exact synonym: SFPKS
has exact synonym: acroosteolysis with osteoporosis and changes in skull and mandible
has exact synonym: arthrodentoosteodysplasia
has exact synonym: serpentine fibula-polycystic kidney syndrome
has OBO namespace: disease_ontology
id: DOID:2736
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Hajdu-Cheney syndrome
annotated property: IAO_0000115
annotated target: A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in the NOTCH2 gene on chromosome 1p12.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/21378985
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/21378989
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/9714016

Axiom
annotated source: Hajdu-Cheney syndrome
annotated property: hasExactSynonym
annotated target: HJCYS
has synonym type: OMO_0003012

Axiom
annotated source: Hajdu-Cheney syndrome
annotated property: hasExactSynonym
annotated target: SFPKS
has synonym type: OMO_0003012

pseudoxanthoma elasticum
type: Class
subclass of: DOID 65
IAO_0000115: A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system.
has db xref: GARD:9643
has db xref: MESH:D011561
has db xref: MIM:177850
has db xref: MIM:264800
has db xref: NCI:C85036
has db xref: ORDO:758
has db xref: SNOMEDCT_US_2023_03_01:7109007
has db xref: UMLS_CUI:C0033847
has exact synonym: Gronblad-Strandberg syndrome
has OBO namespace: disease_ontology
id: DOID:2738
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: pseudoxanthoma elasticum
annotated property: IAO_0000115
annotated target: A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Pseudoxanthoma_elasticum
has db xref: url:http://ghr.nlm.nih.gov/condition/pseudoxanthoma-elasticum
has db xref: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/253/viewAbstract

Gilbert syndrome
type: Class
subclass of: bilirubin metabolic disorder
IAO_0000115: A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity.
has db xref: GARD:6507
has db xref: ICD10CM:E80.4
has db xref: MESH:D005878
has db xref: MIM:143500
has db xref: NCI:C84729
has db xref: SNOMEDCT_US_2023_03_01:27503000
has db xref: UMLS_CUI:C0017551
has exact synonym: Constitutional hyperbilirubinemia
has exact synonym: Gilbert's disease
has exact synonym: Gilbert's syndrome
has exact synonym: Gilbert-Meulengracht syndrome
has exact synonym: hereditary nonhemolytic jaundice
has OBO namespace: disease_ontology
id: DOID:2739
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Gilbert syndrome
annotated property: IAO_0000115
annotated target: A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Gilbert%27s_syndrome

bilirubin metabolic disorder
type: Class
subclass of: DOID 655
IAO_0000115: An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism.
has alternative id: DOID:2740
has db xref: MESH:D006932
has db xref: MESH:D006933
has db xref: NCI:C84761
has db xref: SNOMEDCT_US_2023_03_01:154770008
has db xref: UMLS_CUI:C0020433
has db xref: UMLS_CUI:C0020435
has exact synonym: hereditary hyperbilirubinemia
has exact synonym: hyperbilirubinemia
has OBO namespace: disease_ontology
has related synonym: hyperbilirubinaemia
id: DOID:2741
in subset: NCIthesaurus

Axiom
annotated source: bilirubin metabolic disorder
annotated property: IAO_0000115
annotated target: An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Hereditary_hyperbilirubinemia

auditory system disease
type: Class
subclass of: DOID 863
IAO_0000115: A sensory system disease that is characterized by auditory dysfunction located_in the auditory system.
has alternative id: DOID:1490
has alternative id: DOID:2011
has db xref: ICD10CM:H93.9
has db xref: ICD9CM:388.9
has db xref: MESH:D004427
has db xref: NCI:C26757
has db xref: SNOMEDCT_US_2023_03_01:194193002
has db xref: UMLS_CUI:C0013447
has exact synonym: ear and mastoid disease
has OBO namespace: disease_ontology
id: DOID:2742
in subset: DO FlyBase slim
in subset: NCIthesaurus

Axiom
annotated source: auditory system disease
annotated property: IAO_0000115
annotated target: A sensory system disease that is characterized by auditory dysfunction located_in the auditory system.
type: ECO_0007646

pyelitis
type: Class
subclass of: DOID 557
has db xref: ICD10CM:N12
has db xref: MESH:D011702
has db xref: NCI:C34964
has db xref: SNOMEDCT_US_2023_03_01:27174002
has db xref: UMLS_CUI:C0034183
has OBO namespace: disease_ontology
id: DOID:2744
in subset: NCIthesaurus

narcissistic personality disorder
type: Class
subclass of: disease of mental health
IAO_0000115: A personality disorder that involves an excessive preoccupation with issues of personal adequacy, power, prestige and vanity.
has db xref: ICD10CM:F60.81
has db xref: ICD9CM:301.81
has db xref: MESH:D010554
has db xref: NCI:C92635
has db xref: SNOMEDCT_US_2023_03_01:80711002
has db xref: UMLS_CUI:C0027402
has OBO namespace: disease_ontology
id: DOID:2745
in subset: NCIthesaurus

Axiom
annotated source: narcissistic personality disorder
annotated property: IAO_0000115
annotated target: A personality disorder that involves an excessive preoccupation with issues of personal adequacy, power, prestige and vanity.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Narcissistic_personality_disorder

glycogen storage disease V
type: Class
subclass of: glycogen storage disease
IAO_0000115: A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13.
has db xref: GARD:6528
has db xref: ICD10CM:E74.04
has db xref: MESH:D006012
has db xref: MIM:232600
has db xref: NCI:C84738
has db xref: ORDO:368
has db xref: SNOMEDCT_US_2023_03_01:55912009
has db xref: UMLS_CUI:C0017924
has exact synonym: Glycogen storage disease 5
has exact synonym: Glycogen storage disease, type V
has exact synonym: McArdle's disease
has exact synonym: glycogen storage disease type V
has exact synonym: myophosphorylase deficiency
has OBO namespace: disease_ontology
id: DOID:2746
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: glycogen storage disease V
annotated property: IAO_0000115
annotated target: A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13.
has db xref: url:https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-v/

glycogen storage disease
type: Class
subclass of: carbohydrate metabolic disorder
IAO_0000115: A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.
has db xref: ICD10CM:E74.0
has db xref: ICD9CM:271.0
has db xref: MESH:D006008
has db xref: NCI:C61272
has db xref: SNOMEDCT_US_2023_03_01:267498002
has db xref: UMLS_CUI:C0017919
has exact synonym: glycogenosis
has narrow synonym: glycogenoses
has OBO namespace: disease_ontology
id: DOID:2747
in subset: NCIthesaurus

Axiom
annotated source: glycogen storage disease
annotated property: IAO_0000115
annotated target: A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Glycogen#Disorders_of_glycogen_metabolism
has db xref: url:http://en.wikipedia.org/wiki/Glycogen_storage_disease
has db xref: url:http://www.slideshare.net/anjupaed/glcogen-storage-disorders

glycogen storage disease III
type: Class
subclass of: glycogen storage disease
IAO_0000115: A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21.
has db xref: ICD10CM:E74.03
has db xref: MESH:D006010
has db xref: MIM:232400
has db xref: NCI:C84736
has db xref: SNOMEDCT_US_2023_03_01:66937008
has db xref: UMLS_CUI:C0017922
has exact synonym: Glycogen storage disease 3
has exact synonym: Glycogen storage disease, type III
has exact synonym: amylo 1,6 glucosidase deficiency
has exact synonym: deficiency of debranching enzyme
has exact synonym: deficiency of dextrin
has OBO namespace: disease_ontology
id: DOID:2748
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: glycogen storage disease III
annotated property: IAO_0000115
annotated target: A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/17047887/

gastric hemangioma
type: Class
subclass of: organ system benign neoplasm
has db xref: NCI:C5481
has db xref: UMLS_CUI:C1333770
has exact synonym: hemangioma of stomach
has OBO namespace: disease_ontology
id: DOID:275
in subset: NCIthesaurus

glycogen storage disease IV
type: Class
subclass of: glycogen storage disease
IAO_0000115: A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the GBE1 gene, which encodes the glycogen branching enzyme, on chromosome 3p12.
has db xref: GARD:2520
has db xref: ICD10CM:E74.09
has db xref: MESH:D006011
has db xref: MIM:232500
has db xref: NCI:C84737
has db xref: SNOMEDCT_US_2023_03_01:11179002
has db xref: UMLS_CUI:C0017923
has exact synonym: Amylopectinosis
has exact synonym: Branching-transferase deficiency glycogenosis
has exact synonym: Glycogen storage disease 4
has exact synonym: Glycogen storage disease, type IV
has exact synonym: brancher deficiency glycogenosis
has exact synonym: deficiency of 1,4-alpha-glucan branching enzyme
has OBO namespace: disease_ontology
id: DOID:2750
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: glycogen storage disease IV
annotated property: IAO_0000115
annotated target: A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the GBE1 gene, which encodes the glycogen branching enzyme, on chromosome 3p12.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/17915577/

glycogen storage disease II
type: Class
subclass of: glycogen storage disease
IAO_0000115: A glycogen storage disease characterized by cardiomyopathy and muscular hypotonia are the cardinal features.
has db xref: GARD:5714
has db xref: ICD10CM:E74.02
has db xref: MESH:D006009
has db xref: MIM:232300
has db xref: NCI:C84734
has db xref: SNOMEDCT_US_2023_03_01:237967002
has db xref: UMLS_CUI:C0017921
has exact synonym: Generalized glycogenosis
has exact synonym: Glycogen storage disease 2
has exact synonym: Glycogen storage disease, type II
has exact synonym: Glycogenosis, type 2
has exact synonym: Lysosomal alpha-1,4-glucosidase deficiency
has exact synonym: Pompe disease
has exact synonym: Pompe's disease
has exact synonym: acid maltase deficiency
has exact synonym: deficiency of glucoamylase
has exact synonym: deficiency of maltase
has exact synonym: glycogen storage disease type II
has OBO namespace: disease_ontology
id: DOID:2752
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: glycogen storage disease II
annotated property: IAO_0000115
annotated target: A glycogen storage disease characterized by cardiomyopathy and muscular hypotonia are the cardinal features.
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/6360103/

glycogen storage disease VI
type: Class
subclass of: glycogen storage disease
IAO_0000115: A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation.
has db xref: ICD10CM:E74.09
has db xref: MESH:D006013
has db xref: MIM:232700
has db xref: NCI:C126875
has db xref: ORDO:369
has db xref: SNOMEDCT_US_2023_03_01:29291001
has db xref: UMLS_CUI:C0017925
has exact synonym: Glycogen storage disease 6
has exact synonym: Hers' disease
has exact synonym: glycogen storage disease type VI
has exact synonym: hepatic glycogen phosphorylase deficiency
has exact synonym: hepatophosphorylase deficiency glycogenosis
has OBO namespace: disease_ontology
id: DOID:2754
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: glycogen storage disease VI
annotated property: IAO_0000115
annotated target: A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_VI
has db xref: url:http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vi
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/25266922/
has db xref: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/401/viewAbstract

Mycobacterium avium complex disease
type: Class
subclass of: bacterial infectious disease
IAO_0000115: A primary bacterial infectious disease that results_in infection, has_material_basis_in Mycobacterium avium complex (MAC), which is transmitted_by inhalation or transmitted_by ingestion of via the respiratory or gastrointestinal tract respectively. The bacteria cause disseminated infection in HIV infected people, while pulmonary disease in immunocompetent persons.
has db xref: GARD:7123
has db xref: MESH:D015270
has db xref: NCI:C36197
has db xref: SNOMEDCT_US_2023_03_01:14009004
has db xref: UMLS_CUI:C0026916
has exact synonym: Infection due to Mycobacterium intracellulare
has exact synonym: MAC disease
has exact synonym: Mycobacterium Avium Infection
has exact synonym: Mycobacterium avium Complex
has OBO namespace: disease_ontology
id: DOID:2755
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus
in subset: gram-positive bacterial infectious disease

Axiom
annotated source: Mycobacterium avium complex disease
annotated property: IAO_0000115
annotated target: A primary bacterial infectious disease that results_in infection, has_material_basis_in Mycobacterium avium complex (MAC), which is transmitted_by inhalation or transmitted_by ingestion of via the respiratory or gastrointestinal tract respectively. The bacteria cause disseminated infection in HIV infected people, while pulmonary disease in immunocompetent persons.
has db xref: url:https://clinicalinfo.hiv.gov/en/guidelines/adult-and-adolescent-opportunistic-infection/mycobacterium-avium-complex-disease
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/35400550/

bone carcinoma
type: Class
subclass of: bone cancer
IAO_0000115: A bone cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
has db xref: NCI:C36082
has db xref: SNOMEDCT_US_2023_03_01:269568000
has db xref: UMLS_CUI:C0700110
has OBO namespace: disease_ontology
id: DOID:2762
in subset: NCIthesaurus

Axiom
annotated source: bone carcinoma
annotated property: IAO_0000115
annotated target: A bone cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Carcinoma

ethmoid sinus squamous cell carcinoma
type: Class
subclass of: ethmoid sinus cancer
IAO_0000115: A squamous cell carcinoma that is located_in the ethmoid sinus.
has db xref: NCI:C6065
has db xref: SNOMEDCT_US_2023_03_01:1260046004
has db xref: UMLS_CUI:C1333477
has exact synonym: Epidermoid carcinoma of the ethmoidal sinus
has OBO namespace: disease_ontology
id: DOID:2763
in subset: NCIthesaurus

Axiom
annotated source: ethmoid sinus squamous cell carcinoma
annotated property: IAO_0000115
annotated target: A squamous cell carcinoma that is located_in the ethmoid sinus.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4726268/

ethmoid sinus adenoid cystic carcinoma
type: Class
subclass of: ethmoid sinus cancer
has db xref: NCI:C6238
has db xref: UMLS_CUI:C1333473
has exact synonym: adenoid cystic carcinoma of the ethmoid sinus
has OBO namespace: disease_ontology
has related synonym: adenoid cystic carcinoma of ethmoid sinus
id: DOID:2764
in subset: NCIthesaurus

ethmoid sinus adenocarcinoma
type: Class
subclass of: ethmoid sinus cancer
IAO_0000115: An ethmoid sinus cancer that derives from epithelial cells of glandular origin.
has db xref: NCI:C6237
has db xref: UMLS_CUI:C1333472
has exact synonym: adenocarcinoma of the ethmoid sinus
has OBO namespace: disease_ontology
has related synonym: adenocarcinoma of ethmoid sinus
id: DOID:2766
in subset: NCIthesaurus

Axiom
annotated source: ethmoid sinus adenocarcinoma
annotated property: IAO_0000115
annotated target: An ethmoid sinus cancer that derives from epithelial cells of glandular origin.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Adenocarcinoma

transient tic disorder
type: Class
subclass of: disease of mental health
IAO_0000115: A tic disorder that consists of multiple motor and/or phonic tics with duration of at least 4 weeks, but less than 12 months.
has db xref: ICD10CM:F95.0
has db xref: ICD9CM:307.21
has db xref: MESH:D013981
has db xref: NCI:C116767
has db xref: SNOMEDCT_US_2023_03_01:192622000
has db xref: UMLS_CUI:C0040702
has OBO namespace: disease_ontology
id: DOID:2768
in subset: NCIthesaurus

Axiom
annotated source: transient tic disorder
annotated property: IAO_0000115
annotated target: A tic disorder that consists of multiple motor and/or phonic tics with duration of at least 4 weeks, but less than 12 months.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Tic_disorder

chorioangioma
type: Class
subclass of: organ system benign neoplasm
has db xref: MESH:D006391
has db xref: NCI:C4868
has db xref: SNOMEDCT_US_2023_03_01:699948001
has db xref: UMLS_CUI:C0677608
has exact synonym: Placental hemangioma
has OBO namespace: disease_ontology
id: DOID:277
in subset: NCIthesaurus

irritant dermatitis
type: Class
subclass of: contact dermatitis
IAO_0000115: A contact dermatitis that is characterized by a cutaneous inflammatory reaction to repeated contact with an irritant substance, friction, liquid, or adverse temperature that interacts with the skin and often has_symptom erythema, edema, scaling, pain, pruritis, or burning sensation.
has db xref: ICD10CM:L24.9
has db xref: MESH:D017453
has db xref: NCI:C27151
has db xref: SNOMEDCT_US_2023_03_01:110979008
has db xref: UMLS_CUI:C0162823
has exact synonym: irritant contact dermatitis
has exact synonym: primary irritant dermatitis
has OBO namespace: disease_ontology
id: DOID:2772
in subset: NCIthesaurus

Axiom
annotated source: irritant dermatitis
annotated property: IAO_0000115
annotated target: A contact dermatitis that is characterized by a cutaneous inflammatory reaction to repeated contact with an irritant substance, friction, liquid, or adverse temperature that interacts with the skin and often has_symptom erythema, edema, scaling, pain, pruritis, or burning sensation.
type: ECO_0007637
has db xref: url:https://www.dermcoll.edu.au/atoz/irritant-contact-dermatitis-icd/

contact dermatitis
type: Class
subclass of: dermatitis
has db xref: ICD10CM:L25.9
has db xref: MESH:D003877
has db xref: NCI:C26743
has db xref: SNOMEDCT_US_2023_03_01:156338009
has db xref: UMLS_CUI:C0011616
has exact synonym: Contact dermatitis/eczema
has exact synonym: Contact eczema
has exact synonym: Dermatitis, venenata
has exact synonym: dermatitis venenata
has OBO namespace: disease_ontology
id: DOID:2773
in subset: NCIthesaurus

long bone adamantinoma
type: Class
subclass of: adamantinoma
IAO_0000115: An adamantinoma that is located_in the long bones and results_in focal epithelial differentiation.
has db xref: MESH:D050398
has db xref: MIM:102660
has db xref: NCI:C7644
has db xref: SNOMEDCT_US_2023_03_01:56763007
has db xref: UMLS_CUI:C0334556
has OBO namespace: disease_ontology
id: DOID:2775
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: long bone adamantinoma
annotated property: IAO_0000115
annotated target: An adamantinoma that is located_in the long bones and results_in focal epithelial differentiation.
has db xref: url:http://atlasgeneticsoncology.org/Tumors/AdamantinID5154.html

adamantinoma
type: Class
subclass of: bone cancer
IAO_0000115: A bone cancer that is located_in almost exclusively in the long bones.
has db xref: MESH:D050398
has db xref: NCI:C7644
has db xref: ORDO:55881
has db xref: SNOMEDCT_US_2023_03_01:56763007
has db xref: UMLS_CUI:C0334556
has exact synonym: adamantinoma of long bones
has OBO namespace: disease_ontology
id: DOID:2776
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: adamantinoma
annotated property: IAO_0000115
annotated target: A bone cancer that is located_in almost exclusively in the long bones.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/30844202

rectosigmoid junction neoplasm
type: Class
subclass of: colonic benign neoplasm
has db xref: NCI:C4877
has db xref: SNOMEDCT_US_2023_03_01:126848003
has db xref: UMLS_CUI:C0345873
has exact synonym: Rectosigmoid tumor
has exact synonym: neoplasm of rectosigmoid junction
has exact synonym: rectosigmoid neoplasm
has OBO namespace: disease_ontology
id: DOID:2780
in subset: NCIthesaurus

rectosigmoid cancer
type: Class
subclass of: rectosigmoid junction cancer
has db xref: NCI:C7421
has db xref: UMLS_CUI:C1327709
has OBO namespace: disease_ontology
id: DOID:2781
in subset: NCIthesaurus

rectosigmoid junction cancer
type: Class
subclass of: colon cancer
has db xref: ICD10CM:C19
has db xref: ICD9CM:154.0
has db xref: NCI:C7420
has db xref: SNOMEDCT_US_2023_03_01:363414004
has db xref: UMLS_CUI:C0153443
has exact synonym: malignant Rectosigmoid tumor
has exact synonym: malignant neoplasm of rectosigmoid
has exact synonym: malignant neoplasm of rectosigmoid junction
has exact synonym: malignant tumor of rectosigmoid junction
has OBO namespace: disease_ontology
id: DOID:2782
in subset: NCIthesaurus

lung sarcoma
type: Class
subclass of: cancer
IAO_0000115: A lung cancer that is located_in the lung and that arises from transformed cells of mesenchymal origin.
has db xref: NCI:C4860
has db xref: UMLS_CUI:C0598790
has exact synonym: pulmonary sarcoma
has OBO namespace: disease_ontology
id: DOID:2784
in subset: NCIthesaurus

Axiom
annotated source: lung sarcoma
annotated property: IAO_0000115
annotated target: A lung cancer that is located_in the lung and that arises from transformed cells of mesenchymal origin.
has db xref: url:https://www.sciencedirect.com/topics/medicine-and-dentistry/lung-sarcoma

Dandy-Walker syndrome
type: Class
subclass of: DOID 936
IAO_0000115: A cerebellar disease that is characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle.
has db xref: GARD:6242
has db xref: ICD10CM:Q03.1
has db xref: MESH:D003616
has db xref: MIM:220200
has db xref: NCI:C75012
has db xref: SNOMEDCT_US_2023_03_01:14447001
has db xref: UMLS_CUI:C0010964
has exact synonym: Atresia of foramina of Magendie and Luschka
has OBO namespace: disease_ontology
id: DOID:2785
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Dandy-Walker syndrome
annotated property: IAO_0000115
annotated target: A cerebellar disease that is characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://omim.org/entry/220200
has db xref: url:https://en.wikipedia.org/wiki/Dandy-Walker_syndrome
has db xref: url:https://ghr.nlm.nih.gov/condition/dandy-walker-malformation

parasitic protozoa infectious disease
type: Class
subclass of: parasitic infectious disease
IAO_0000115: A parasitic infectious disease that is caused by parasitic protozoa which are microorganisms classified as unicellular eukaryotes.
has alternative id: DOID:0060003
has alternative id: DOID:10553
has alternative id: DOID:3734
has alternative id: DOID:3804
has alternative id: DOID:947
has db xref: ICD10CM:B64
has db xref: MESH:D011528
has db xref: NCI:C34953
has db xref: SNOMEDCT_US_2023_03_01:95896000
has db xref: UMLS_CUI:C0033740
has exact synonym: mastigophora infectious disease
has exact synonym: sarcomastigophora infectious disease
has OBO namespace: disease_ontology
id: DOID:2789
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: parasitic protozoa infectious disease
annotated property: IAO_0000115
annotated target: A parasitic infectious disease that is caused by parasitic protozoa which are microorganisms classified as unicellular eukaryotes.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Protozoan
has db xref: url:http://en.wikipedia.org/wiki/Protozoan_infection

necatoriasis
type: Class
subclass of: DOID 883
IAO_0000115: A parasitic helminthiasis infectious disease that involves infection of the small intestine of humans, dogs and cats by the nematode Necator americanus causing abdominal pain, diarrhea, cramps, weight loss and anemia. Cutaneous larvae migrans in humans is characterized by skin ruptures and severe itching.
has alternative id: DOID:13048
has db xref: ICD10CM:B76.1
has db xref: MESH:D009332
has db xref: NCI:C34838
has db xref: SNOMEDCT_US_2023_03_01:36667009
has db xref: UMLS_CUI:C0027528
has OBO namespace: disease_ontology
id: DOID:2790
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: necatoriasis
annotated property: IAO_0000115
annotated target: A parasitic helminthiasis infectious disease that involves infection of the small intestine of humans, dogs and cats by the nematode Necator americanus causing abdominal pain, diarrhea, cramps, weight loss and anemia. Cutaneous larvae migrans in humans is characterized by skin ruptures and severe itching.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Necator_americanus

bronchiolitis obliterans
type: Class
subclass of: interstitial lung disease
IAO_0000115: A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.
has db xref: GARD:9551
has db xref: MESH:D001989
has db xref: NCI:C62580
has db xref: SNOMEDCT_US_2023_03_01:40100001
has db xref: UMLS_CUI:C0006272
has exact synonym: Bronchiolitis exudativa
has exact synonym: Bronchiolitis fibrosa obliterans
has exact synonym: Obliterative bronchiolitis
has OBO namespace: disease_ontology
id: DOID:2799
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: bronchiolitis obliterans
annotated property: IAO_0000115
annotated target: A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.
type: ECO_0007643
has db xref: url:https://www.merriam-webster.com/medical/bronchiolitis%20obliterans

endocrine system disease
type: Class
subclass of: disease
IAO_0000115: A disease of anatomical entity that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body.
has db xref: ICD10CM:E34.9
has db xref: ICD9CM:259.9
has db xref: MESH:D004700
has db xref: NCI:C3009
has db xref: SNOMEDCT_US_2023_03_01:67432001
has db xref: UMLS_CUI:C0014130
has OBO namespace: disease_ontology
id: DOID:28
in subset: DO AGR slim
in subset: DO CFDE slim
in subset: DO GXD slim
in subset: DO MGI slim
in subset: DO RAD slim
in subset: NCIthesaurus

Axiom
annotated source: endocrine system disease
annotated property: IAO_0000115
annotated target: A disease of anatomical entity that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Endocrine_system

acute interstitial pneumonia
type: Class
subclass of: DOID 552
IAO_0000115: A idiopathic interstitial pneumonia which develops suddenly and is severe. Initially, the lung shows edema, hyaline membranes, and interstitial acute inflammation. Later, it develops loose organizing fibrosis, mostly within alveolar septa and type II pneumocyte hyperplasia. Fever, cough, and difficulty breathing develop over 1 to 2 weeks, typically progressing to acute respiratory failure.
has db xref: GARD:12835
has db xref: ICD10CM:J84.114
has db xref: ICD9CM:516.33
has db xref: NCI:C35806
has db xref: ORDO:79126
has db xref: SNOMEDCT_US_2023_03_01:129459004
has db xref: UMLS_CUI:C1279945
has exact synonym: AIP
has exact synonym: Hamman-Rich disease
has exact synonym: Hamman-Rich syndrome
has exact synonym: Idiopathic pulmonary fibrosis, acute fatal form
has exact synonym: accelerated interstitial pneumonia
has exact synonym: acute interstitial pneumonitis
has OBO namespace: disease_ontology
id: DOID:2800
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: acute interstitial pneumonia
annotated property: IAO_0000115
annotated target: A idiopathic interstitial pneumonia which develops suddenly and is severe. Initially, the lung shows edema, hyaline membranes, and interstitial acute inflammation. Later, it develops loose organizing fibrosis, mostly within alveolar septa and type II pneumocyte hyperplasia. Fever, cough, and difficulty breathing develop over 1 to 2 weeks, typically progressing to acute respiratory failure.
type: ECO_0007637
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/11790668

Axiom
annotated source: acute interstitial pneumonia
annotated property: hasExactSynonym
annotated target: AIP
has synonym type: OMO_0003012

nonspecific interstitial pneumonia
type: Class
subclass of: DOID 552
IAO_0000115: An idiopathic interstitial pneumonia that occurs mainly in women, people who do not smoke, and people younger than 50 years with no known cause or risk factors. Lung biopsies may show predominantly interstitial inflammation or fibrosis or a combination of inflammation and fibrosis. A dry cough and shortness of breath develop over 6 to 18 months. Low-grade fever and a feeling of illness (malaise) may occur.
has db xref: NCI:C35717
has db xref: SNOMEDCT_US_2023_03_01:129452008
has db xref: UMLS_CUI:C1290344
has exact synonym: NSIP
has OBO namespace: disease_ontology
id: DOID:2801
in subset: NCIthesaurus

Axiom
annotated source: nonspecific interstitial pneumonia
annotated property: IAO_0000115
annotated target: An idiopathic interstitial pneumonia that occurs mainly in women, people who do not smoke, and people younger than 50 years with no known cause or risk factors. Lung biopsies may show predominantly interstitial inflammation or fibrosis or a combination of inflammation and fibrosis. A dry cough and shortness of breath develop over 6 to 18 months. Low-grade fever and a feeling of illness (malaise) may occur.
type: ECO_0007637

Axiom
annotated source: nonspecific interstitial pneumonia
annotated property: hasExactSynonym
annotated target: NSIP
has synonym type: OMO_0003012

malignant neoplasm of acoustic nerve
type: Class
subclass of: cranial nerve malignant neoplasm
has db xref: ICD10CM:C72.4
has db xref: NCI:C4539
has db xref: SNOMEDCT_US_2023_03_01:93660000
has db xref: UMLS_CUI:C0346331
has exact synonym: malignant tumor of acoustic vestibular nerve
has exact synonym: malignant tumor of the Vestibulocochlear nerve
has exact synonym: malignant tumour of acoustic vestibular nerve
has OBO namespace: disease_ontology
id: DOID:2814
in subset: NCIthesaurus

cranial nerve malignant neoplasm
type: Class
subclass of: central nervous system cancer
IAO_0000115: A central nervous system cancer that affects a cranial nerve, develops from schwann cells located_in cranial nerves, has_material_basis_in abnormally proliferating cells.
has alternative id: DOID:338
has db xref: ICD10CM:C72.50
has db xref: ICD9CM:192.0
has db xref: MESH:D003390
has db xref: NCI:C2963
has db xref: NCI:C3571
has db xref: SNOMEDCT_US_2023_03_01:126966009
has db xref: SNOMEDCT_US_2023_03_01:188311003
has db xref: UMLS_CUI:C0010267
has db xref: UMLS_CUI:C0153644
has exact synonym: malignant neoplasm of cranial nerve
has exact synonym: malignant tumor of cranial nerve
has exact synonym: malignant tumor of the Cranial nerve
has OBO namespace: disease_ontology
id: DOID:2815
in subset: NCIthesaurus

Axiom
annotated source: cranial nerve malignant neoplasm
annotated property: IAO_0000115
annotated target: A central nervous system cancer that affects a cranial nerve, develops from schwann cells located_in cranial nerves, has_material_basis_in abnormally proliferating cells.
has db xref: url:https://link.springer.com/chapter/10.1007/978-3-642-02874-8_15

malignant oculomotor nerve tumor
type: Class
subclass of: cranial nerve malignant neoplasm
subclass of: cranial nerve III tumor
has db xref: NCI:C6995
has db xref: SNOMEDCT_US_2023_03_01:93929003
has db xref: UMLS_CUI:C0686417
has exact synonym: IIIrd Cranial nerve neoplasm, malignant
has exact synonym: primary malignant neoplasm of oculomotor nerve
has OBO namespace: disease_ontology
id: DOID:2816
in subset: NCIthesaurus

cranial nerve III tumor
type: Class
subclass of: peripheral nervous system neoplasm
has db xref: NCI:C6994
has db xref: SNOMEDCT_US_2023_03_01:126969002
has db xref: UMLS_CUI:C1263895
has exact synonym: Oculomotor nerve tumor
has exact synonym: Oculomotor nerve tumour
has exact synonym: cranial nerve III tumour
has exact synonym: neoplasm of oculomotor nerve
has OBO namespace: disease_ontology
id: DOID:2817
in subset: NCIthesaurus

acalculous cholecystitis
type: Class
subclass of: cholecystitis
IAO_0000115: A cholecystitis characterized by the absence of gallstones.
has alternative id: DOID:2827
has db xref: MESH:D042101
has db xref: NCI:C35578
has db xref: SNOMEDCT_US_2023_03_01:19968009
has db xref: UMLS_CUI:C0267841
has exact synonym: acute acalculous cholecystitis
has exact synonym: acute cholecystitis without calculus
has exact synonym: cholecystitis without calculus
has OBO namespace: disease_ontology
id: DOID:2828
in subset: NCIthesaurus

Axiom
annotated source: acalculous cholecystitis
annotated property: IAO_0000115
annotated target: A cholecystitis characterized by the absence of gallstones.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/30487697/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/34657038/
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8362504/

dehydration polycythemia
type: Class
subclass of: acquired polycythemia
has db xref: NCI:C27310
has db xref: UMLS_CUI:C0856815
has OBO namespace: disease_ontology
id: DOID:2833
in subset: NCIthesaurus

acquired polycythemia
type: Class
subclass of: DOID 8432
has db xref: ICD10CM:D75.1
has db xref: ICD9CM:289.0
has db xref: NCI:C27178
has db xref: SNOMEDCT_US_2023_03_01:154835002
has db xref: UMLS_CUI:C1318533
has exact synonym: Polycythemia, secondary
has exact synonym: secondary polycythemia
has OBO namespace: disease_ontology
id: DOID:2834
in subset: NCIthesaurus

polycythemia due to hypoxia
type: Class
subclass of: acquired polycythemia
has db xref: NCI:C27312
has db xref: UMLS_CUI:C0856818
has OBO namespace: disease_ontology
id: DOID:2835
in subset: NCIthesaurus

stress polycythemia
type: Class
subclass of: acquired polycythemia
has db xref: ICD10CM:D75.1
has db xref: NCI:C27174
has db xref: SNOMEDCT_US_2023_03_01:191371001
has db xref: UMLS_CUI:C0541719
has exact synonym: Gaisbock's syndrome
has exact synonym: Polycythemia, emotional
has OBO namespace: disease_ontology
id: DOID:2838
in subset: NCIthesaurus

erythropoietin polycythemia
type: Class
subclass of: acquired polycythemia
has db xref: ICD10CM:D75.1
has db xref: NCI:C35434
has db xref: SNOMEDCT_US_2023_03_01:367328005
has db xref: UMLS_CUI:C0391869
has exact synonym: Nephrogenous polycythemia
has exact synonym: Polycythaemia due to Excess Erythropoetin Production
has exact synonym: Polycythemia due to excess erythopoetin production
has exact synonym: Polycythemia, nephrogenous
has exact synonym: secondary polycythemia with excess erythropoietin
has OBO namespace: disease_ontology
id: DOID:2839
in subset: NCIthesaurus

asthma
type: Class
subclass of: disease
IAO_0000115: A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.
has alternative id: DOID:12703
has alternative id: DOID:13829
has alternative id: DOID:13830
has alternative id: DOID:2840
has alternative id: DOID:5783
has db xref: GARD:10246
has db xref: ICD10CM:J45
has db xref: ICD9CM:493
has db xref: KEGG:05310
has db xref: MESH:D001249
has db xref: MIM:600807
has db xref: NCI:C28397
has db xref: SNOMEDCT_US_2023_03_01:187687003
has db xref: UMLS_CUI:C0004096
has exact synonym: bronchial hyperreactivity
has exact synonym: chronic obstructive asthma
has exact synonym: chronic obstructive asthma with acute exacerbation
has exact synonym: chronic obstructive asthma with status asthmaticus
has OBO namespace: disease_ontology
id: DOID:2841
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: asthma
annotated property: IAO_0000115
annotated target: A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.
type: ECO_0007637
has db xref: url:http://www.nhlbi.nih.gov/health/dci/Diseases/Asthma/Asthma_WhatIs.html
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK430901/
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK7223/

Jervell-Lange Nielsen syndrome
type: Class
subclass of: long QT syndrome
has db xref: GARD:3048
has db xref: MESH:D029593
has db xref: MIM:220400
has db xref: MIM:612347
has db xref: NCI:C84793
has db xref: SNOMEDCT_US_2023_03_01:49518001
has db xref: UMLS_CUI:C0022387
has exact synonym: Jervell and Lange-Nielson syndrome
has OBO namespace: disease_ontology
id: DOID:2842
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

long QT syndrome
type: Class
subclass of: cardiomyopathy
IAO_0000115: An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles).
has alternative id: DOID:4069
has db xref: GARD:6922
has db xref: ICD10CM:I45.81
has db xref: ICD9CM:426.82
has db xref: MESH:D008133
has db xref: MIM:PS192500
has db xref: NCI:C34786
has db xref: ORDO:768
has db xref: SNOMEDCT_US_2023_03_01:9651007
has db xref: UMLS_CUI:C0023976
has exact synonym: LQT
has exact synonym: long Q-T syndrome
has narrow synonym: Romano-Ward syndrome
has OBO namespace: disease_ontology
id: DOID:2843
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].
narrow match: ORDO:101016

Axiom
annotated source: long QT syndrome
annotated property: IAO_0000115
annotated target: An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles).
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Long_QT_syndrome

Axiom
annotated source: long QT syndrome
annotated property: hasExactSynonym
annotated target: LQT
has synonym type: OMO_0003012

bruxism
type: Class
subclass of: disease of mental health
IAO_0000115: A sleep disorder that involves involuntarily grinding or clenching of the teeth while sleeping.
has alternative id: DOID:8891
has db xref: ICD10CM:F45.8
has db xref: ICD10CM:G47.63
has db xref: ICD9CM:327.53
has db xref: MESH:D002012
has db xref: MESH:D020186
has db xref: NCI:C73511
has db xref: SNOMEDCT_US_2023_03_01:274950005
has db xref: SNOMEDCT_US_2023_03_01:90207007
has db xref: UMLS_CUI:C0006325
has db xref: UMLS_CUI:C0393774
has exact synonym: Bruxism - teeth grinding
has exact synonym: Grinding teeth
has exact synonym: Teeth grinding
has exact synonym: sleep related bruxism
has OBO namespace: disease_ontology
id: DOID:2846
in subset: NCIthesaurus

Axiom
annotated source: bruxism
annotated property: IAO_0000115
annotated target: A sleep disorder that involves involuntarily grinding or clenching of the teeth while sleeping.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Bruxism

hairy cell leukemia
type: Class
subclass of: chronic lymphocytic leukemia
IAO_0000115: A chronic lymphocytic leukemia that is characterized by over production of B cells (lymphocytes) by the bone marrow where the B cells appear hairy under a microscope.
has db xref: GARD:6560
has db xref: ICD10CM:C91.4
has db xref: ICD9CM:202.4
has db xref: ICDO:9940/3
has db xref: MESH:D007943
has db xref: NCI:C7402
has db xref: SNOMEDCT_US_2023_03_01:118613001
has db xref: UMLS_CUI:C0023443
has OBO namespace: disease_ontology
id: DOID:285
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: hairy cell leukemia
annotated property: IAO_0000115
annotated target: A chronic lymphocytic leukemia that is characterized by over production of B cells (lymphocytes) by the bone marrow where the B cells appear hairy under a microscope.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007645
has db xref: url:https://en.wikipedia.org/wiki/Hairy_cell_leukemia
has db xref: url:https://www.mayoclinic.org/diseases-conditions/hairy-cell-leukemia/symptoms-causes/syc-20372956
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/30723113

hyperthyroxinemia
type: Class
subclass of: DOID 50
IAO_0000115: A thyroid gland disease that is characterized by elevated thyroxine levels in the blood.
has db xref: MESH:D006981
has db xref: NCI:C131850
has db xref: UMLS_CUI:C0020551
has OBO namespace: disease_ontology
id: DOID:2855
in subset: NCIthesaurus

Axiom
annotated source: hyperthyroxinemia
annotated property: IAO_0000115
annotated target: A thyroid gland disease that is characterized by elevated thyroxine levels in the blood.
has db xref: url:https://en.wikipedia.org/wiki/Hyperthyroxinemia

euthyroid sick syndrome
type: Class
subclass of: DOID 50
has db xref: ICD10CM:E07.81
has db xref: ICD9CM:790.94
has db xref: MESH:D005067
has db xref: NCI:C113170
has db xref: SNOMEDCT_US_2023_03_01:237542005
has db xref: UMLS_CUI:C0015190
has exact synonym: Sick-euthyroid syndrome
has OBO namespace: disease_ontology
id: DOID:2856
in subset: NCIthesaurus

hemoglobin C disease
type: Class
subclass of: hemoglobinopathy
has db xref: GARD:2640
has db xref: ICD10CM:D58.2
has db xref: MESH:D006445
has db xref: NCI:C34675
has db xref: SNOMEDCT_US_2023_03_01:51053007
has db xref: UMLS_CUI:C0019021
has exact synonym: Hb-C disease
has OBO namespace: disease_ontology
id: DOID:2859
in subset: DO rare slim
in subset: NCIthesaurus

hemoglobinopathy
type: Class
subclass of: DOID 589
has db xref: GARD:12455
has db xref: ICD10CM:D58.2
has db xref: MESH:D006453
has db xref: NCI:C3092
has db xref: SNOMEDCT_US_2023_03_01:154794008
has db xref: UMLS_CUI:C0019045
has exact synonym: hemoglobinopathies
has OBO namespace: disease_ontology
id: DOID:2860
in subset: DO rare slim
in subset: NCIthesaurus

glucosephosphate dehydrogenase deficiency
type: Class
subclass of: carbohydrate metabolic disorder
IAO_0000115: A carbohydrate metabolic disorder that is characterized by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH).
has db xref: GARD:6520
has db xref: MESH:D005955
has db xref: NCI:C98933
has db xref: SNOMEDCT_US_2023_03_01:124134002
has db xref: UMLS_CUI:C2939465
has exact synonym: Glucose-6-phosphate dehydrogenase deficiency
has exact synonym: deficiency of G-6PD
has OBO namespace: disease_ontology
id: DOID:2862
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: glucosephosphate dehydrogenase deficiency
annotated property: IAO_0000115
annotated target: A carbohydrate metabolic disorder that is characterized by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH).
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Glucosephosphate_dehydrogenase_deficiency

endometrial adenocarcinoma
type: Class
subclass of: endometrial carcinoma
IAO_0000115: An endometrial carcinoma that derives_from epithelial cells of glandular origin.
has alternative id: DOID:5827
has alternative id: DOID:6650
has db xref: NCI:C6287
has db xref: NCI:C6290
has db xref: NCI:C7359
has db xref: SNOMEDCT_US_2023_03_01:123845008
has db xref: SNOMEDCT_US_2023_03_01:1260086007
has db xref: UMLS_CUI:C0279763
has db xref: UMLS_CUI:C1153706
has db xref: UMLS_CUI:C1336905
has exact synonym: adenocarcinoma of endometrium
has exact synonym: adenocarcinoma of the Endometrium
has exact synonym: adenocarcinoma of uterus
has exact synonym: endometrial adenoacanthoma
has exact synonym: endometrial endometrioid adenocarcinoma
has exact synonym: endometrial endometrioid adenocarcinoma with squamous differentiation
has exact synonym: endometrioid adenoma or carcinoma
has exact synonym: endometrioid adenomas and carcinomas
has exact synonym: endometrioid carcinoma of Endometrium
has OBO namespace: disease_ontology
id: DOID:2870
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: endometrial adenocarcinoma
annotated property: IAO_0000115
annotated target: An endometrial carcinoma that derives_from epithelial cells of glandular origin.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Adenocarcinoma

endometrial carcinoma
type: Class
subclass of: endometrial cancer
IAO_0000115: A endometrial cancer that is located_in the tissue lining the uterus.
has alternative id: DOID:3000
has db xref: MESH:D016889
has db xref: MESH:D018269
has db xref: NCI:C7558
has db xref: SNOMEDCT_US_2023_03_01:30289006
has db xref: SNOMEDCT_US_2023_03_01:93781006
has db xref: UMLS_CUI:C0206687
has db xref: UMLS_CUI:C0476089
has exact synonym: carcinoma of the Endometrium
has exact synonym: endometrioid carcinoma
has exact synonym: endometrioid carcinoma of female Reproductive system
has OBO namespace: disease_ontology
id: DOID:2871
in subset: DO cancer slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: endometrial carcinoma
annotated property: IAO_0000115
annotated target: A endometrial cancer that is located_in the tissue lining the uterus.
type: ECO_0007637
has db xref: url:http://www.cancer.gov/cancertopics/types/endometrial

laryngeal squamous cell carcinoma
type: Class
subclass of: laryngeal carcinoma
IAO_0000115: A laryngeal carcinoma that has_material_basis_in squamous cells.
has db xref: MESH:D000077195
has db xref: NCI:C4044
has db xref: SNOMEDCT_US_2023_03_01:707358000
has db xref: UMLS_CUI:C0280324
has exact synonym: Epidermoid carcinoma of the Larynx
has exact synonym: squamous cell carcinoma of larynx
has OBO namespace: disease_ontology
id: DOID:2876
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: laryngeal squamous cell carcinoma
annotated property: IAO_0000115
annotated target: A laryngeal carcinoma that has_material_basis_in squamous cells.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma

larynx sarcoma
type: Class
subclass of: larynx cancer
IAO_0000115: A larynx cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm.
has db xref: NCI:C6020
has db xref: UMLS_CUI:C1334377
has exact synonym: sarcoma of larynx
has OBO namespace: disease_ontology
id: DOID:2877
in subset: NCIthesaurus

Axiom
annotated source: larynx sarcoma
annotated property: IAO_0000115
annotated target: A larynx cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm.
has db xref: url:https://www.sciencedirect.com/science/article/pii/S1726490109701893

prostatic adenoma
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A male reproductive organ benign neoplasm that derives_from glandular epithelial cells and that is located_in the prostate.
has db xref: MESH:D011470
has db xref: NCI:C4795
has db xref: SNOMEDCT_US_2023_03_01:21173002
has db xref: UMLS_CUI:C0520477
has exact synonym: adenoma - prostate
has exact synonym: adenoma of prostate
has exact synonym: benign adenoma of prostate
has exact synonym: prostate adenoma
has OBO namespace: disease_ontology
id: DOID:2883
in subset: NCIthesaurus

Axiom
annotated source: prostatic adenoma
annotated property: IAO_0000115
annotated target: A male reproductive organ benign neoplasm that derives_from glandular epithelial cells and that is located_in the prostate.
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/33102081/
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/24649766

benign prostate phyllodes tumor
type: Class
subclass of: organ system benign neoplasm
has alternative id: DOID:2886
has db xref: NCI:C5532
has db xref: NCI:C7574
has db xref: UMLS_CUI:C1332535
has db xref: UMLS_CUI:C1335409
has exact synonym: Phyllodes neoplasm of the prostate
has exact synonym: benign Phyllodes neoplasm of the prostate
has exact synonym: benign prostate phyllodes tumour
has exact synonym: prostate phyllodes tumor
has exact synonym: prostate phyllodes tumour
has OBO namespace: disease_ontology
id: DOID:2885
in subset: NCIthesaurus

prostate leiomyoma
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A male reproductive organ benign neoplasm that derives_from smooth muscle cells and that is located_in the prostate.
has db xref: NCI:C5544
has db xref: UMLS_CUI:C1335510
has exact synonym: Prostatic leiomyoma
has OBO namespace: disease_ontology
id: DOID:2887
in subset: NCIthesaurus

Axiom
annotated source: prostate leiomyoma
annotated property: IAO_0000115
annotated target: A male reproductive organ benign neoplasm that derives_from smooth muscle cells and that is located_in the prostate.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5037125/

endometriosis
type: Class
subclass of: reproductive system disease
IAO_0000115: A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.
has db xref: EFO:0001065
has db xref: ICD10CM:N80
has db xref: ICD9CM:617
has db xref: MESH:D004715
has db xref: NCI:C3014
has db xref: SNOMEDCT_US_2023_03_01:11871002
has db xref: UMLS_CUI:C0014175
has OBO namespace: disease_ontology
id: DOID:289
in subset: NCIthesaurus

Axiom
annotated source: endometriosis
annotated property: IAO_0000115
annotated target: A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.
type: ECO_0007638
type: ECO_0007645
has db xref: url:https://en.wikipedia.org/?title=Endometriosis
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/20574791

thyroid adenoma
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: An endocrine organ benign neoplasm that is located_in the thyroid and derives_from glandular epithelial cells.
has db xref: MESH:D013964
has db xref: NCI:C3502
has db xref: SNOMEDCT_US_2023_03_01:189174004
has db xref: UMLS_CUI:C0151468
has exact synonym: adenoma of thyroid gland
has OBO namespace: disease_ontology
id: DOID:2891
in subset: NCIthesaurus

Axiom
annotated source: thyroid adenoma
annotated property: IAO_0000115
annotated target: An endocrine organ benign neoplasm that is located_in the thyroid and derives_from glandular epithelial cells.
type: ECO_0007645
has db xref: url:https://www.sciencedirect.com/topics/veterinary-science-and-veterinary-medicine/thyroid-adenoma

exocervical carcinoma
type: Class
subclass of: cervix carcinoma
IAO_0000115: A cervix carcinoma that is located_in the exocervix.
has db xref: NCI:C7453
has db xref: SNOMEDCT_US_2023_03_01:372100004
has db xref: UMLS_CUI:C1299238
has exact synonym: carcinoma of exocervix
has exact synonym: carcinoma of the Exocervix
has OBO namespace: disease_ontology
id: DOID:2892
in subset: NCIthesaurus

Axiom
annotated source: exocervical carcinoma
annotated property: IAO_0000115
annotated target: A cervix carcinoma that is located_in the exocervix.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/14675699

cervix carcinoma
type: Class
subclass of: cervical cancer
IAO_0000115: A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
has db xref: NCI:C9039
has db xref: SNOMEDCT_US_2023_03_01:285432005
has db xref: UMLS_CUI:C0302592
has exact synonym: cancer of cervix
has exact synonym: carcinoma cervix uteri
has exact synonym: carcinoma of cervix
has exact synonym: carcinoma of the Cervix Uteri
has OBO namespace: disease_ontology
id: DOID:2893
in subset: DO cancer slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: cervix carcinoma
annotated property: IAO_0000115
annotated target: A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Cervical_cancer

Goldenhar syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch.
has db xref: GARD:6540
has db xref: ICD10CM:Q87.0
has db xref: MESH:D006053
has db xref: MIM:164210
has db xref: NCI:C84740
has db xref: ORDO:374
has db xref: SNOMEDCT_US_2023_03_01:46567003
has db xref: UMLS_CUI:C0265240
has exact synonym: Facio-auriculo-vertebral spectrum
has exact synonym: First AND second branchial arch syndrome
has exact synonym: First arch syndrome
has exact synonym: HEMIFACIAL MICROSOMIA
has exact synonym: OAV (oculoauriculovertebral) dysplasia
has exact synonym: Otomandibular dysostosis
has OBO namespace: disease_ontology
id: DOID:2907
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Goldenhar syndrome
annotated property: IAO_0000115
annotated target: A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Goldenhar_syndrome
has db xref: url:http://www.healthline.com/galecontent/goldenhar-syndrome
has db xref: url:https://www.faces-cranio.org/goldenhar

Treacher Collins syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities.
has db xref: GARD:9124
has db xref: ICD10CM:Q75.4
has db xref: MESH:D008342
has db xref: MIM:PS154500
has db xref: NCI:C75018
has db xref: SNOMEDCT_US_2023_03_01:205416009
has db xref: UMLS_CUI:C0242387
has exact synonym: Franceschetti syndrome
has exact synonym: mandibulofacial dysostosis
has OBO namespace: disease_ontology
id: DOID:2908
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Treacher Collins syndrome
annotated property: IAO_0000115
annotated target: A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities.
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK1532/

acute pancreatitis
type: Class
subclass of: DOID 4989
IAO_0000115: A pancreatitis that is characterized by inflammation of the pancreas over a short period of time and has symptoms of severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock.
has alternative id: DOID:2912
has db xref: ICD10CM:K85
has db xref: ICD9CM:577.0
has db xref: MESH:D010195
has db xref: NCI:C95437
has db xref: SNOMEDCT_US_2023_03_01:39726008
has db xref: UMLS_CUI:C0001339
has OBO namespace: disease_ontology
id: DOID:2913
in subset: NCIthesaurus

Axiom
annotated source: acute pancreatitis
annotated property: IAO_0000115
annotated target: A pancreatitis that is characterized by inflammation of the pancreas over a short period of time and has symptoms of severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock.
has db xref: url:https://www.nhs.uk/conditions/acute-pancreatitis/

cryoglobulinemia
type: Class
subclass of: disease
IAO_0000115: A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures.
has db xref: GARD:6217
has db xref: ICD10CM:D89.1
has db xref: MESH:D003449
has db xref: NCI:C26736
has db xref: SNOMEDCT_US_2023_03_01:30911005
has db xref: UMLS_CUI:C0010403
has exact synonym: Cryoimmunoglobulinaemia
has OBO namespace: disease_ontology
id: DOID:2917
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: cryoglobulinemia
annotated property: IAO_0000115
annotated target: A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures.
type: ECO_0007638
type: ECO_0007640
has db xref: url:http://en.wikipedia.org/wiki/Cryoglobulinemia
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/000540.htm
comment: ls:IEDB

lacrimal system cancer
type: Class
subclass of: ocular cancer
has db xref: NCI:C5102
has db xref: SNOMEDCT_US_2023_03_01:416510003
has db xref: UMLS_CUI:C1334361
has exact synonym: lacrimal system neoplasm
has exact synonym: neoplasm of lacrimal system
has exact synonym: tumor of the lacrimal system
has OBO namespace: disease_ontology
id: DOID:292
in subset: NCIthesaurus

membranoproliferative glomerulonephritis
type: Class
subclass of: glomerulonephritis
has db xref: GARD:11982
has db xref: MESH:D015432
has db xref: MIM:305800
has db xref: NCI:C34644
has db xref: SNOMEDCT_US_2023_03_01:80321008
has db xref: UMLS_CUI:C0017662
has exact synonym: Lobular glomerulonephritis
has exact synonym: chronic glomerulonephritis, lobular
has OBO namespace: disease_ontology
id: DOID:2920
in subset: DO rare slim
in subset: NCIthesaurus

glomerulonephritis
type: Class
subclass of: nephritis
IAO_0000115: A nephritis that causes inflammation of the glomeruli located_in kidney.
has db xref: GARD:6516
has db xref: ICD10CM:N08
has db xref: MESH:D005921
has db xref: NCI:C26784
has db xref: SNOMEDCT_US_2023_03_01:36171008
has db xref: UMLS_CUI:C0017658
has OBO namespace: disease_ontology
id: DOID:2921
in subset: DO RAD slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: glomerulonephritis
annotated property: IAO_0000115
annotated target: A nephritis that causes inflammation of the glomeruli located_in kidney.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Glomerulonephritis
comment: sn:IEDB

Klippel-Trenaunay syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome that is characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues.
has db xref: ICD10CM:Q87.2
has db xref: MESH:D007715
has db xref: MIM:149000
has db xref: NCI:C84801
has db xref: ORDO:90308
has db xref: SNOMEDCT_US_2023_03_01:59078009
has db xref: UMLS_CUI:C0022739
has exact synonym: Haemangiectatic hypertrophy
has exact synonym: Klippel-Trenaunay-Weber syndrome
has exact synonym: angioosteohypertrophy syndrome
has OBO namespace: disease_ontology
id: DOID:2926
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Klippel-Trenaunay syndrome
annotated property: IAO_0000115
annotated target: A syndrome that is characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues.
type: ECO_0007636
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Klippel%E2%80%93Tr%C3%A9naunay_syndrome
has db xref: url:http://omim.org/entry/149000

Newcastle disease
type: Class
subclass of: DOID 934
IAO_0000115: A viral infectious disease that results_in infection in birds and humans, has_material_basis_in Newcastle disease virus (Orthoavulavirus javaense), 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.
has db xref: MESH:D009521
has db xref: NCI:C34849
has db xref: SNOMEDCT_US_2023_03_01:258300000
has db xref: UMLS_CUI:C0027983
has exact synonym: Newcastle's disease
has exact synonym: Pseudo-fowlpest
has OBO namespace: disease_ontology
id: DOID:2929
in subset: DO infectious disease slim
in subset: NCIthesaurus
in subset: zoonotic infectious disease

Axiom
annotated source: Newcastle disease
annotated property: IAO_0000115
annotated target: A viral infectious disease that results_in infection in birds and humans, has_material_basis_in Newcastle disease virus (Orthoavulavirus javaense), 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.
type: ECO_0007638
type: ECO_0007645
has db xref: url:https://en.wikipedia.org/wiki/Virulent_Newcastle_disease
has db xref: url:https://www.agric.wa.gov.au/livestock-biosecurity/newcastle-disease
has db xref: url:https://www.ncbi.nlm.nih.gov/articles/PMC1526237/
has db xref: url:https://www.ncbi.nlm.nih.gov/articles/PMC1822603/

lacrimal gland carcinoma
type: Class
subclass of: lacrimal gland cancer
has db xref: NCI:C6129
has db xref: UMLS_CUI:C1334358
has exact synonym: carcinoma of the lacrimal gland
has OBO namespace: disease_ontology
id: DOID:293
in subset: NCIthesaurus

Chediak-Higashi syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy and that has_material_basis_in homozygous or compound heterozygous mutation in the lysosomal trafficking regulator gene (LYST) on chromosome 1q42.
has db xref: GARD:6035
has db xref: ICD10CM:E70.330
has db xref: MESH:D002609
has db xref: MIM:214500
has db xref: NCI:C2941
has db xref: ORDO:167
has db xref: SNOMEDCT_US_2023_03_01:111396008
has db xref: UMLS_CUI:C0007965
has exact synonym: CHS
has exact synonym: Chediak - Steinbrinck anomaly
has OBO namespace: disease_ontology
id: DOID:2935
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Chediak-Higashi syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy and that has_material_basis_in homozygous or compound heterozygous mutation in the lysosomal trafficking regulator gene (LYST) on chromosome 1q42.
type: ECO_0007637
type: ECO_0007645
has db xref: url:http://ghr.nlm.nih.gov/condition/chediak-higashi-syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/25129365

Axiom
annotated source: Chediak-Higashi syndrome
annotated property: hasExactSynonym
annotated target: CHS
has synonym type: OMO_0003012

Epstein-Barr virus infectious disease
type: Class
subclass of: DOID 934
IAO_0000115: A viral infectious disease that has_material_basis_in Human gammaherpesvirus 4 (Lymphocryptovirus humangamma4).
has db xref: MESH:D020031
has db xref: NCI:C38759
has db xref: SNOMEDCT_US_2023_09_01:240530001
has db xref: UMLS_CUI:C0149678
has exact synonym: EBV Infection
has exact synonym: Epstein-Barr virus infection
has OBO namespace: disease_ontology
id: DOID:2938
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: Epstein-Barr virus infectious disease
annotated property: IAO_0000115
annotated target: A viral infectious disease that has_material_basis_in Human gammaherpesvirus 4 (Lymphocryptovirus humangamma4).
type: ECO_0007637
type: ECO_0007638
type: ECO_0007646
has db xref: url:https://en.wikipedia.org/wiki/Epstein%E2%80%93Barr_virus_infection
has db xref: url:https://www.cdc.gov/epstein-barr/about/
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK559285/

lacrimal gland cancer
type: Class
subclass of: lacrimal system cancer
has alternative id: DOID:291
has db xref: ICD9CM:190.2
has db xref: NCI:C3563
has db xref: NCI:C4360
has db xref: SNOMEDCT_US_2023_03_01:127004000
has db xref: SNOMEDCT_US_2023_03_01:188271007
has db xref: UMLS_CUI:C0153627
has db xref: UMLS_CUI:C0339124
has exact synonym: malignant neoplasm of lacrimal gland
has exact synonym: malignant tumour of lacrimal gland
has exact synonym: neoplasm of lacrimal gland
has exact synonym: tumor of the lacrimal gland
has OBO namespace: disease_ontology
id: DOID:294
in subset: NCIthesaurus

bronchiolitis
type: Class
subclass of: DOID 850
IAO_0000115: A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen.
has db xref: MESH:D001988
has db xref: NCI:C39658
has db xref: SNOMEDCT_US_2023_03_01:4120002
has db xref: UMLS_CUI:C0006271
has OBO namespace: disease_ontology
id: DOID:2942
in subset: NCIthesaurus

Axiom
annotated source: bronchiolitis
annotated property: IAO_0000115
annotated target: A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Bronchiolitis

severe acute respiratory syndrome
type: Class
subclass of: DOID 934
IAO_0000115: A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.
has db xref: GARD:9237
has db xref: ICD10CM:J12.81
has db xref: ICD9CM:079.82
has db xref: MESH:D045169
has db xref: NCI:C85064
has db xref: SNOMEDCT_US_2023_03_01:398447004
has db xref: UMLS_CUI:C1175175
has exact synonym: SARS
has exact synonym: SARS-CoV infection
has OBO namespace: disease_ontology
id: DOID:2945
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus
in subset: zoonotic infectious disease

Axiom
annotated source: severe acute respiratory syndrome
annotated property: IAO_0000115
annotated target: A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.
type: ECO_0007638
type: ECO_0007643
has db xref: url:http://en.wikipedia.org/wiki/Severe_acute_respiratory_syndrome
has db xref: url:https://www.merriam-webster.com/dictionary/SARS#medicalDictionary
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK558977/

Axiom
annotated source: severe acute respiratory syndrome
annotated property: hasExactSynonym
annotated target: SARS
has synonym type: OMO_0003012

eye carcinoma
type: Class
subclass of: ocular cancer
IAO_0000115: An ocular cancer that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells and arises_from the tissues that cover structures located_in the eye.
has db xref: NCI:C6079
has db xref: UMLS_CUI:C0848866
has exact synonym: Ocular carcinoma
has OBO namespace: disease_ontology
has related synonym: carcinoma of eye
id: DOID:295
in subset: NCIthesaurus

Axiom
annotated source: eye carcinoma
annotated property: IAO_0000115
annotated target: An ocular cancer that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells and arises_from the tissues that cover structures located_in the eye.
type: ECO_0007637
type: ECO_0007641
has db xref: url:http://www.cancer.gov/dictionary/?CdrID=444991

motion sickness
type: Class
subclass of: inner ear disease
has db xref: ICD10CM:T75.3
has db xref: ICD9CM:994.6
has db xref: MESH:D009041
has db xref: MIM:158280
has db xref: NCI:C34824
has db xref: SNOMEDCT_US_2023_03_01:37031009
has db xref: UMLS_CUI:C0026603
has exact synonym: Travel Sickness
has OBO namespace: disease_ontology
id: DOID:2951
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

inner ear disease
type: Class
subclass of: auditory system disease
IAO_0000115: An auditory system disease that is located in the part of the ear that contains organs of the senses of hearing and equilibrium.
has db xref: ICD10CM:H83.9
has db xref: MESH:D007759
has db xref: NCI:C128369
has db xref: NCI:C27166
has db xref: SNOMEDCT_US_2023_03_01:194690003
has db xref: SNOMEDCT_US_2023_03_01:20425006
has db xref: UMLS_CUI:C0022890
has db xref: UMLS_CUI:C0494559
has exact synonym: labyrinthine disease
has OBO namespace: disease_ontology
id: DOID:2952
in subset: NCIthesaurus

Axiom
annotated source: inner ear disease
annotated property: IAO_0000115
annotated target: An auditory system disease that is located in the part of the ear that contains organs of the senses of hearing and equilibrium.
has db xref: url:https://www.merckmanuals.com/professional/ear,-nose,-and-throat-disorders/inner-ear-disorders/introduction-to-inner-ear-disorders

pulmonary tuberculosis
type: Class
subclass of: bacterial infectious disease
IAO_0000115: A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.
has db xref: ICD10CM:A15
has db xref: ICD9CM:011
has db xref: MESH:D014397
has db xref: NCI:C26899
has db xref: SNOMEDCT_US_2023_03_01:81483001
has db xref: UMLS_CUI:C0041327
has OBO namespace: disease_ontology
id: DOID:2957
in subset: DO infectious disease slim
in subset: NCIthesaurus
in subset: gram-positive bacterial infectious disease

Axiom
annotated source: pulmonary tuberculosis
annotated property: IAO_0000115
annotated target: A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.
type: ECO_0007637
type: ECO_0007643
has db xref: url:http://www.cdc.gov/tb/publications/factsheets/general/tb.htm
has db xref: url:https://www.merriam-webster.com/dictionary/tuberculosis#medicalDictionary

hyperimmunoglobulin syndrome
type: Class
subclass of: DOID 612
IAO_0000115: A B cell deficiency that is characterized by relative predominance of certain immunoglobulin subtypes and deficiencies of others.
has db xref: NCI:C27579
has db xref: UMLS_CUI:C1334069
has OBO namespace: disease_ontology
id: DOID:2959
in subset: NCIthesaurus

Axiom
annotated source: hyperimmunoglobulin syndrome
annotated property: IAO_0000115
annotated target: A B cell deficiency that is characterized by relative predominance of certain immunoglobulin subtypes and deficiencies of others.
type: ECO_0007636
has db xref: url:https://ncithesaurus-stage.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27579

mixed lacrimal gland cancer
type: Class
subclass of: lacrimal gland cancer
has db xref: NCI:C6804
has db xref: SNOMEDCT_US_2023_03_01:254989000
has db xref: UMLS_CUI:C0346342
has exact synonym: carcinoma Ex Pleomorphic adenoma of the lacrimal gland
has exact synonym: carcinoma ex pleomorphic adenoma of lacrimal gland
has exact synonym: malignant mixed neoplasm of lacrimal gland
has OBO namespace: disease_ontology
id: DOID:296
in subset: NCIthesaurus

photosensitive trichothiodystrophy
type: Class
subclass of: trichothiodystrophy
IAO_0000115: A trichothiodystrophy characterized by skin that is extremely sensitive to ultraviolet (UV) rays from sunlight.
has db xref: MESH:D054463
has db xref: NCI:C4924
has db xref: SNOMEDCT_US_2021_09_01:723551003
has exact synonym: IBIDS syndrome
has exact synonym: TTD-P
has exact synonym: Tay syndrome
has exact synonym: sulfur-deficient brittle hair syndrome
has exact synonym: trichothiodystrophy with congenital ichthyosis
has OBO namespace: disease_ontology
id: DOID:2960
in subset: DO FlyBase slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: photosensitive trichothiodystrophy
annotated property: IAO_0000115
annotated target: A trichothiodystrophy characterized by skin that is extremely sensitive to ultraviolet (UV) rays from sunlight.
type: ECO_0007636
type: ECO_0007645
has db xref: url:https://ghr.nlm.nih.gov/condition/trichothiodystrophy
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/18603627/

Axiom
annotated source: photosensitive trichothiodystrophy
annotated property: hasExactSynonym
annotated target: TTD-P
has synonym type: OMO_0003012

Cockayne syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome that is characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development.
has db xref: GARD:6122
has db xref: ICD10CM:Q87.19
has db xref: MESH:D003057
has db xref: NCI:C9460
has db xref: ORDO:191
has db xref: SNOMEDCT_US_2023_03_01:205832003
has db xref: UMLS_CUI:C0009207
has exact synonym: Neill-Dingwall syndrome
has OBO namespace: disease_ontology
has related synonym: Cockayne's syndrome
id: DOID:2962
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Cockayne syndrome
annotated property: IAO_0000115
annotated target: A syndrome that is characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Cockayne_syndrome
has db xref: url:https://medlineplus.gov/genetics/condition/cockayne-syndrome/
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK1342/

bursitis
type: Class
subclass of: DOID 65
IAO_0000115: A connective tissue disease that is characterized by the inflammation of bursae, small, fluid-filled sacs that cushion the bones, tendons and muscles near your joints.
has db xref: ICD10CM:M71.9
has db xref: MESH:D002062
has db xref: NCI:C94407
has db xref: SNOMEDCT_US_2023_03_01:156677003
has db xref: UMLS_CUI:C0006444
has OBO namespace: disease_ontology
id: DOID:2965
in subset: NCIthesaurus

Axiom
annotated source: bursitis
annotated property: IAO_0000115
annotated target: A connective tissue disease that is characterized by the inflammation of bursae, small, fluid-filled sacs that cushion the bones, tendons and muscles near your joints.
has db xref: url:https://www.mayoclinic.org/diseases-conditions/bursitis/symptoms-causes/syc-20353242

pleomorphic adenoma carcinoma
type: Class
subclass of: DOID 8618
has db xref: NCI:C4397
has db xref: SNOMEDCT_US_2023_03_01:17264009
has db xref: UMLS_CUI:C0344460
has exact synonym: carcinoma ex pleomorphic adenoma
has exact synonym: carcinoma in pleomorphic adenoma
has OBO namespace: disease_ontology
id: DOID:297
in subset: NCIthesaurus

primary hyperoxaluria
type: Class
subclass of: carbohydrate metabolic disorder
IAO_0000115: A carbohydrate metabolic disorder characterized by impaired glyoxylate metabolism resulting in accumulation of oxalate throughout the body typically manifesting as kidney and bladder stones.
has alternative id: DOID:2979
has db xref: ICD10CM:E72.53
has db xref: ICD10CM:R82.992
has db xref: MESH:D006959
has db xref: MESH:D006960
has db xref: MIM:PS259900
has db xref: NCI:C123158
has db xref: ORDO:416
has db xref: SNOMEDCT_US_2023_03_01:190766003
has db xref: SNOMEDCT_US_2023_03_01:367621000119107
has db xref: UMLS_CUI:C0020500
has db xref: UMLS_CUI:C0020501
has OBO namespace: disease_ontology
id: DOID:2977
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: primary hyperoxaluria
annotated property: IAO_0000115
annotated target: A carbohydrate metabolic disorder characterized by impaired glyoxylate metabolism resulting in accumulation of oxalate throughout the body typically manifesting as kidney and bladder stones.
type: ECO_0007645
has db xref: url:https://ghr.nlm.nih.gov/condition/primary-hyperoxaluria
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/27815184

carbohydrate metabolic disorder
type: Class
subclass of: DOID 655
IAO_0000115: An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates.
has alternative id: DOID:9434
has db xref: MESH:D002239
has db xref: NCI:C97089
has db xref: ORDO:79161
has db xref: UMLS_CUI:C0007001
has db xref: UMLS_CUI:C0149670
has exact synonym: disorder of carbohydrate transport and metabolism
has exact synonym: inborn carbohydrate metabolism disorder
has exact synonym: inborn errors of carbohydrate metabolism
has OBO namespace: disease_ontology
id: DOID:2978
in subset: DO CFDE slim
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: carbohydrate metabolic disorder
annotated property: IAO_0000115
annotated target: An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Inborn_errors_of_carbohydrate_metabolism

lacrimal gland adenocarcinoma
type: Class
subclass of: lacrimal gland carcinoma
IAO_0000115: A lacrimal gland carcinoma that derives_from epithelial cells of glandular origin.
has db xref: NCI:C4541
has db xref: SNOMEDCT_US_2023_03_01:254988008
has db xref: UMLS_CUI:C0346341
has OBO namespace: disease_ontology
has related synonym: adenocarcinoma of lacrimal gland
id: DOID:298
in subset: NCIthesaurus

Axiom
annotated source: lacrimal gland adenocarcinoma
annotated property: IAO_0000115
annotated target: A lacrimal gland carcinoma that derives_from epithelial cells of glandular origin.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Adenocarcinoma

anuria
type: Class
subclass of: DOID 557
has db xref: MESH:D001002
has db xref: NCI:C114699
has db xref: SNOMEDCT_US_2023_03_01:139460001
has db xref: UMLS_CUI:C0003460
has exact synonym: Suppression of urinary secretion
has OBO namespace: disease_ontology
id: DOID:2983
in subset: NCIthesaurus

IgA glomerulonephritis
type: Class
subclass of: glomerulonephritis
IAO_0000115: A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.
has db xref: EFO:0004194
has db xref: GARD:863
has db xref: MESH:D005922
has db xref: MIM:161950
has db xref: NCI:C34643
has db xref: SNOMEDCT_US_2023_03_01:236407003
has db xref: UMLS_CUI:C0017661
has exact synonym: Berger's IgA or IgG nephropathy
has exact synonym: Focal Glomerulonephritis
has exact synonym: IgA nephropathy
has exact synonym: primary IgA nephropathy
has exact synonym: segmental glomerulonephritis
has OBO namespace: disease_ontology
id: DOID:2986
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: IgA glomerulonephritis
annotated property: IAO_0000115
annotated target: A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.
type: ECO_0007638
type: ECO_0007640
has db xref: url:http://en.wikipedia.org/wiki/IgA_nephropathy
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/000466.htm

familial Mediterranean fever
type: Class
subclass of: DOID 612
IAO_0000115: An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.
has db xref: GARD:6421
has db xref: ICD10CM:M04.1
has db xref: ICD9CM:277.31
has db xref: MESH:D010505
has db xref: MIM:134610
has db xref: MIM:249100
has db xref: NCI:C84707
has db xref: ORDO:342
has db xref: SNOMEDCT_US_2023_03_01:12579009
has db xref: UMLS_CUI:C0031069
has exact synonym: FMF
has exact synonym: benign paroxysmal peritonitis
has OBO namespace: disease_ontology
id: DOID:2987
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: familial Mediterranean fever
annotated property: IAO_0000115
annotated target: An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.
type: ECO_0007636
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Familial_Mediterranean_fever
has db xref: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/127/viewAbstract

Axiom
annotated source: familial Mediterranean fever
annotated property: hasExactSynonym
annotated target: FMF
has synonym type: OMO_0003012

antiphospholipid syndrome
type: Class
subclass of: disease
IAO_0000115: An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin).
has db xref: GARD:5824
has db xref: ICD10CM:D68.61
has db xref: MESH:D016736
has db xref: MIM:107320
has db xref: NCI:C61283
has db xref: SNOMEDCT_US_2023_03_01:201450008
has db xref: UMLS_CUI:C0085278
has exact synonym: APS
has exact synonym: antiphospholipid antibody syndrome
has OBO namespace: disease_ontology
id: DOID:2988
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: antiphospholipid syndrome
annotated property: IAO_0000115
annotated target: An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin).
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Antiphospholipid_syndrome
has db xref: url:https://www.genome.gov/Genetic-Disorders/Antiphospholipid-Syndrome
comment: ls:IEDB

Axiom
annotated source: antiphospholipid syndrome
annotated property: hasExactSynonym
annotated target: APS
has synonym type: OMO_0003012

adenocarcinoma
type: Class
subclass of: carcinoma
IAO_0000115: A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue.
has db xref: ICDO:8140/3
has db xref: MESH:D000230
has db xref: NCI:C2852
has db xref: SNOMEDCT_US_2023_03_01:35917007
has db xref: UMLS_CUI:C0001418
has OBO namespace: disease_ontology
id: DOID:299
in subset: NCIthesaurus

Axiom
annotated source: adenocarcinoma
annotated property: IAO_0000115
annotated target: A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Adenocarcinoma

prostate neuroendocrine neoplasm
type: Class
subclass of: prostate cancer
has db xref: NCI:C5545
has db xref: UMLS_CUI:C1335515
has exact synonym: neuroendocrine tumor of the prostate
has OBO namespace: disease_ontology
id: DOID:2992
in subset: NCIthesaurus

germ cell cancer
type: Class
subclass of: cancer
IAO_0000115: A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from germ cells.
has alternative id: DOID:2157
has db xref: MESH:D009373
has db xref: NCI:C3708
has db xref: SNOMEDCT_US_2023_03_01:302853003
has db xref: UMLS_CUI:C0205851
has exact synonym: malignant tumor of the germ cell
has OBO namespace: disease_ontology
has related synonym: germ cell neoplasm
has related synonym: germ cell tumour
id: DOID:2994
in subset: DO RAD slim
in subset: NCIthesaurus

Axiom
annotated source: germ cell cancer
annotated property: IAO_0000115
annotated target: A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from germ cells.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Germ_cell_tumor

mixed germ cell-sex cord neoplasm
type: Class
subclass of: mixed cell type cancer
has db xref: NCI:C5241
has db xref: SNOMEDCT_US_2023_03_01:703601005
has db xref: UMLS_CUI:C1321220
has exact synonym: mixed germ cell-Sex Cord tumor
has exact synonym: mixed germ cell-sex cord-stromal tumor
has OBO namespace: disease_ontology
id: DOID:2996
in subset: NCIthesaurus

testicular cancer
type: Class
subclass of: male reproductive organ cancer
IAO_0000115: A male reproductive system cancer that is located_in the testicles.
has alternative id: DOID:12231
has alternative id: DOID:5554
has db xref: GARD:7746
has db xref: ICD10CM:C62
has db xref: ICD9CM:186
has db xref: MESH:D013736
has db xref: NCI:C3404
has db xref: NCI:C5053
has db xref: NCI:C7251
has db xref: SNOMEDCT_US_2023_03_01:126900000
has db xref: SNOMEDCT_US_2023_03_01:94087009
has db xref: UMLS_CUI:C0039590
has db xref: UMLS_CUI:C0153594
has db xref: UMLS_CUI:C1333010
has exact synonym: childhood neoplasm of the testis
has exact synonym: neoplasm of testis
has exact synonym: pediatric testicular neoplasm
has exact synonym: testicular tumor
has exact synonym: testis cancer
has exact synonym: testis neoplasm
has OBO namespace: disease_ontology
id: DOID:2998
in subset: DO rare slim
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: testicular cancer
annotated property: IAO_0000115
annotated target: A male reproductive system cancer that is located_in the testicles.
type: ECO_0007637
type: ECO_0007641
has db xref: url:http://www.cancer.gov/dictionary?CdrID=445090

granulosa cell tumor
type: Class
subclass of: sex cord-gonadal stromal tumor
IAO_0000115: A sex cord-gonadal stromal tumor that has_material_basis_in granulosa cells and arises from the sex cord stroma.
has alternative id: DOID:5333
has db xref: MESH:D006106
has db xref: NCI:C3070
has db xref: NCI:C4205
has db xref: SNOMEDCT_US_2023_03_01:18861007
has db xref: SNOMEDCT_US_2023_03_01:46585005
has db xref: UMLS_CUI:C0018206
has db xref: UMLS_CUI:C0334401
has exact synonym: Granulosa cell neoplasm
has exact synonym: Granulosa cell tumor, adult type
has exact synonym: Granulosa cell tumour, sarcomatoid
has exact synonym: malignant granulosa cell neoplasm
has OBO namespace: disease_ontology
id: DOID:2999
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: granulosa cell tumor
annotated property: IAO_0000115
annotated target: A sex cord-gonadal stromal tumor that has_material_basis_in granulosa cells and arises from the sex cord stroma.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Granulosa_cell_tumour

female reproductive endometrioid cancer
type: Class
subclass of: female reproductive organ cancer
IAO_0000115: A female reproductive organ cancer that is characterized by a resemblance to endometrium.
has db xref: NCI:C7113
has db xref: SNOMEDCT_US_2023_03_01:253013001
has db xref: UMLS_CUI:C0474809
has exact synonym: endometrioid neoplasm
has exact synonym: endometrioid tumor
has OBO namespace: disease_ontology
has related synonym: female reproductive endometrioid neoplasm
id: DOID:3001
in subset: NCIthesaurus

Axiom
annotated source: female reproductive endometrioid cancer
annotated property: IAO_0000115
annotated target: A female reproductive organ cancer that is characterized by a resemblance to endometrium.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Endometrioid_tumor

ovary neuroendocrine neoplasm
type: Class
subclass of: ovarian cancer
IAO_0000115: An ovarian cancer that has_material_basis_in nuroendocrine cells.
has db xref: NCI:C5237
has db xref: UMLS_CUI:C1335172
has exact synonym: neuroendocrine tumor of Ovary
has OBO namespace: disease_ontology
id: DOID:3002
in subset: NCIthesaurus

Axiom
annotated source: ovary neuroendocrine neoplasm
annotated property: IAO_0000115
annotated target: An ovarian cancer that has_material_basis_in nuroendocrine cells.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/26976990

nipple benign neoplasm
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A breast benign neoplasm that is located_in the nipple.
has db xref: NCI:C5212
has db xref: UMLS_CUI:C1112166
has exact synonym: tumor of Nipple
has OBO namespace: disease_ontology
id: DOID:3003
in subset: NCIthesaurus

Axiom
annotated source: nipple benign neoplasm
annotated property: IAO_0000115
annotated target: A breast benign neoplasm that is located_in the nipple.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Nipple_adenoma

breast myoepithelial neoplasm
type: Class
subclass of: breast cancer
IAO_0000115: A breast cancer that arises from myoepithelial cells, which are a normal constituent of the salivary acini and ducts and are found between the epithelial cells and the basement membrane.
has db xref: NCI:C40389
has db xref: UMLS_CUI:C1511319
has OBO namespace: disease_ontology
id: DOID:3004
in subset: NCIthesaurus

Axiom
annotated source: breast myoepithelial neoplasm
annotated property: IAO_0000115
annotated target: A breast cancer that arises from myoepithelial cells, which are a normal constituent of the salivary acini and ducts and are found between the epithelial cells and the basement membrane.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4439666/

invasive ductal carcinoma
type: Class
subclass of: breast carcinoma
IAO_0000115: A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated.
has alternative id: DOID:3005
has db xref: MESH:D018270
has db xref: NCI:C4017
has db xref: NCI:C4194
has db xref: SNOMEDCT_US_2023_03_01:408643008
has db xref: UMLS_CUI:C1134719
has db xref: UMLS_CUI:C1527349
has exact synonym: Infiltrating ductal carcinoma of breast
has exact synonym: Invasive ductal carcinoma, NST
has exact synonym: ductal adenocarcinoma
has OBO namespace: disease_ontology
id: DOID:3008
in subset: NCIthesaurus

Axiom
annotated source: invasive ductal carcinoma
annotated property: IAO_0000115
annotated target: A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated.
type: ECO_0007645
has db xref: url:https://www.hopkinsmedicine.org/breast_center/breast_cancers_other_conditions/invasive_ductal_carcinoma.html
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/25343550

breast neuroendocrine neoplasm
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A breast benign neoplasm that forms from cells that release hormones into the blood in response to a signal from the nervous system.
has db xref: NCI:C5169
has db xref: UMLS_CUI:C1332635
has exact synonym: neuroendocrine tumor of the breast
has OBO namespace: disease_ontology
id: DOID:3009
in subset: NCIthesaurus

Axiom
annotated source: breast neuroendocrine neoplasm
annotated property: IAO_0000115
annotated target: A breast benign neoplasm that forms from cells that release hormones into the blood in response to a signal from the nervous system.
type: ECO_0007637
type: ECO_0007641
has db xref: url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/neuroendocrine-tumor

lobular neoplasia
type: Class
subclass of: DOID 8719
IAO_0000115: A breast carcinoma in situ that is characterized by abnormal cells are found in the lobules (glands that make milk) of the breast.
has db xref: NCI:C27939
has db xref: UMLS_CUI:C0861352
has exact synonym: Lobular Intraepithelial Neoplasia
has exact synonym: lobular carcinoma in situ
has OBO namespace: disease_ontology
id: DOID:3010
in subset: NCIthesaurus

Axiom
annotated source: lobular neoplasia
annotated property: IAO_0000115
annotated target: A breast carcinoma in situ that is characterized by abnormal cells are found in the lobules (glands that make milk) of the breast.
type: ECO_0007637
type: ECO_0007641
has db xref: url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/lobular-neoplasia

breast granular cell tumor
type: Class
subclass of: breast cancer
IAO_0000115: A breast cancer that is believed to arises_from Schwann cells.
has db xref: NCI:C40400
has db xref: UMLS_CUI:C1511312
has OBO namespace: disease_ontology
id: DOID:3011
in subset: NCIthesaurus

Axiom
annotated source: breast granular cell tumor
annotated property: IAO_0000115
annotated target: A breast cancer that is believed to arises_from Schwann cells.
type: ECO_0007637
type: ECO_0007641
has db xref: url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/granular-cell-tumor

Li-Fraumeni syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by autosomal dominant inheritance of increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata.
has db xref: GARD:6902
has db xref: MESH:D016864
has db xref: MIM:PS151623
has db xref: NCI:C3476
has db xref: ORDO:524
has db xref: SNOMEDCT_US_2023_03_01:428850001
has db xref: UMLS_CUI:C0085390
has exact synonym: LFS
has exact synonym: Li-Fraumeni Familiar cancer Susceptibility syndrome
has exact synonym: SBLA syndrome
has exact synonym: sarcoma, breast, leukaemia and adrenal gland syndrome
has OBO namespace: disease_ontology
id: DOID:3012
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Li-Fraumeni syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by autosomal dominant inheritance of increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Li%E2%80%93Fraumeni_syndrome
has db xref: url:http://ghr.nlm.nih.gov/condition/li-fraumeni-syndrome
has db xref: url:https://www.lfsassociation.org/what-is-lfs/

Axiom
annotated source: Li-Fraumeni syndrome
annotated property: hasExactSynonym
annotated target: LFS
has synonym type: OMO_0003012

intraductal breast benign neoplasm
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A breast benign neoplasm that is located_in the breast ducts.
has db xref: NCI:C36083
has db xref: UMLS_CUI:C0948967
has OBO namespace: disease_ontology
id: DOID:3013
in subset: NCIthesaurus

Axiom
annotated source: intraductal breast benign neoplasm
annotated property: IAO_0000115
annotated target: A breast benign neoplasm that is located_in the breast ducts.
type: ECO_0007645
has db xref: url:https://www.hopkinsmedicine.org/breast_center/breast_cancers_other_conditions/invasive_ductal_carcinoma.html
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/23025963

breast malignant phyllodes tumor
type: Class
subclass of: breast cancer
IAO_0000115: A breast cancer that is characterized by a prominent infiltrative border, unequivocal sarcomatous areas, and stromal overgrowth and arises_from the stroma, lined by an epithelial and myoepithelial bilayer, forming a leaflike structure. They tend to grow rapidly and present in middle-aged women (40s-50s).
has alternative id: DOID:1632
has alternative id: DOID:3018
has db xref: MESH:D003557
has db xref: NCI:C4275
has db xref: NCI:C4504
has db xref: NCI:C7575
has db xref: SNOMEDCT_US_2023_03_01:254844000
has db xref: SNOMEDCT_US_2023_03_01:712989008
has db xref: SNOMEDCT_US_2023_03_01:87913009
has db xref: UMLS_CUI:C0238031
has db xref: UMLS_CUI:C0346154
has db xref: UMLS_CUI:C0600066
has exact synonym: Phyllodes breast neoplasm
has exact synonym: Phyllodes tumor, malignant
has exact synonym: breast malignant phyllodes tumour
has exact synonym: malignant Mammary Phyllodes tumor
has exact synonym: malignant Mammary Phyllodes tumour
has exact synonym: malignant Phyllodes neoplasm
has exact synonym: malignant cystosarcoma phyllodes
has exact synonym: malignant phyllodes tumor
has exact synonym: malignant phyllodes tumor of breast
has exact synonym: malignant phyllodes tumour
has exact synonym: malignant phyllodes tumour of breast
has exact synonym: phyllodes breast tumor
has exact synonym: phyllodes breast tumour
has OBO namespace: disease_ontology
id: DOID:3016
in subset: NCIthesaurus

Axiom
annotated source: breast malignant phyllodes tumor
annotated property: IAO_0000115
annotated target: A breast cancer that is characterized by a prominent infiltrative border, unequivocal sarcomatous areas, and stromal overgrowth and arises_from the stroma, lined by an epithelial and myoepithelial bilayer, forming a leaflike structure. They tend to grow rapidly and present in middle-aged women (40s-50s).
type: ECO_0007645
has db xref: url:https://www.sciencedirect.com/science/article/pii/S2214330016300256

breast sarcoma
type: Class
subclass of: breast cancer
IAO_0000115: A breast cancer that has_material_basis_in abnormally proliferating cells derives_from mesenchymal cells.
has db xref: NCI:C4670
has db xref: SNOMEDCT_US_2023_03_01:278050001
has db xref: UMLS_CUI:C0349667
has exact synonym: sarcoma of breast
has OBO namespace: disease_ontology
id: DOID:3017
in subset: NCIthesaurus

Axiom
annotated source: breast sarcoma
annotated property: IAO_0000115
annotated target: A breast cancer that has_material_basis_in abnormally proliferating cells derives_from mesenchymal cells.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Sarcoma

substance abuse
type: Class
subclass of: substance-related disorder
IAO_0000115: A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning.
has db xref: MESH:D019966
has db xref: NCI:C16522
has db xref: SNOMEDCT_US_2023_03_01:26416006
has db xref: UMLS_CUI:C0013146
has OBO namespace: disease_ontology
id: DOID:302
in subset: NCIthesaurus

Axiom
annotated source: substance abuse
annotated property: IAO_0000115
annotated target: A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Substance_abuse

prostatic acinar adenocarcinoma
type: Class
subclass of: prostate adenocarcinoma
has db xref: NCI:C5596
has db xref: UMLS_CUI:C1332139
has OBO namespace: disease_ontology
id: DOID:3024
in subset: NCIthesaurus

acinar cell carcinoma
type: Class
subclass of: carcinoma
IAO_0000115: A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from spindle cells and/or derives_from giant cells.
has db xref: GARD:8568
has db xref: ICDO:8550/3
has db xref: MESH:D018267
has db xref: NCI:C3768
has db xref: SNOMEDCT_US_2023_03_01:45410002
has db xref: UMLS_CUI:C0206685
has exact synonym: acinic cell carcinoma
has OBO namespace: disease_ontology
id: DOID:3025
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: acinar cell carcinoma
annotated property: IAO_0000115
annotated target: A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from spindle cells and/or derives_from giant cells.
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/15215543/

colon mucinous adenocarcinoma
type: Class
subclass of: colon adenocarcinoma
has db xref: NCI:C7966
has db xref: UMLS_CUI:C0279639
has exact synonym: Colonic mucinous adenocarcinoma
has OBO namespace: disease_ontology
id: DOID:3029
in subset: DO cancer slim
in subset: NCIthesaurus

substance-related disorder
type: Class
subclass of: disease of mental health
IAO_0000115: A disease of mental health involving the abuse or dependence on a substance that is ingested in order to produce a high, alter one's senses, or otherwise affect functioning.
has db xref: MESH:D019966
has db xref: NCI:C92203
has db xref: UMLS_CUI:C0236969
has OBO namespace: disease_ontology
id: DOID:303
in subset: DO RAD slim
in subset: NCIthesaurus

Axiom
annotated source: substance-related disorder
annotated property: IAO_0000115
annotated target: A disease of mental health involving the abuse or dependence on a substance that is ingested in order to produce a high, alter one's senses, or otherwise affect functioning.
has db xref: url:https://www.psychologytoday.com/us/conditions/substance-related-disorders

mucinous adenocarcinoma
type: Class
subclass of: adenocarcinoma
IAO_0000115: An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin.
has alternative id: DOID:4532
has db xref: ICDO:8480/3
has db xref: MESH:D002288
has db xref: NCI:C26712
has db xref: NCI:C27379
has db xref: SNOMEDCT_US_2023_03_01:72495009
has db xref: SNOMEDCT_US_2023_03_01:900006
has db xref: UMLS_CUI:C0007130
has db xref: UMLS_CUI:C0334368
has exact synonym: Mucin-Secreting adenocarcinoma
has exact synonym: Mucin-Secreting carcinoma
has exact synonym: Mucous carcinoma
has exact synonym: Pseudomyxoma peritonei with unknown primary site
has exact synonym: mucin-producing adenocarcinoma
has OBO namespace: disease_ontology
id: DOID:3030
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: mucinous adenocarcinoma
annotated property: IAO_0000115
annotated target: An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin.
type: ECO_0007641
has db xref: url:http://coloncancer.about.com/od/typesofcancer/a/Mucinous_Tumor.htm
has db xref: url:http://medical-dictionary.thefreedictionary.com/mucinous+carcinoma

submucosal invasive colon adenocarcinoma
type: Class
subclass of: colon adenocarcinoma
has db xref: NCI:C38760
has db xref: UMLS_CUI:C1515024
has OBO namespace: disease_ontology
id: DOID:3038
in subset: NCIthesaurus

cecum adenocarcinoma
type: Class
subclass of: cecum carcinoma
IAO_0000115: A cecum carcinoma that derives_from epithelial cells of glandular origin.
has db xref: NCI:C5543
has db xref: SNOMEDCT_US_2023_03_01:413446001
has db xref: UMLS_CUI:C1332866
has exact synonym: Cecal adenocarcinoma
has OBO namespace: disease_ontology
id: DOID:3039
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: cecum adenocarcinoma
annotated property: IAO_0000115
annotated target: A cecum carcinoma that derives_from epithelial cells of glandular origin.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Adenocarcinoma

allergic contact dermatitis
type: Class
subclass of: contact dermatitis
IAO_0000115: A contact dermatitis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign.
has db xref: ICD10CM:L23
has db xref: MESH:D017449
has db xref: NCI:C26998
has db xref: SNOMEDCT_US_2023_03_01:200841005
has db xref: UMLS_CUI:C0162820
has OBO namespace: disease_ontology
id: DOID:3042
in subset: NCIthesaurus

Axiom
annotated source: allergic contact dermatitis
annotated property: IAO_0000115
annotated target: A contact dermatitis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Allergic_contact_dermatitis
comment: ls:IEDB

food allergy
type: Class
subclass of: allergic disease
IAO_0000115: A hypersensitivity reaction type I disease that is an abnormal response to a food, triggered by the body's immune system.
has db xref: MESH:D005512
has db xref: NCI:C172304
has db xref: SNOMEDCT_US_2023_03_01:213018006
has db xref: UMLS_CUI:C0016470
has exact synonym: food hypersensitivity
has OBO namespace: disease_ontology
id: DOID:3044
in subset: DO IEDB slim
in subset: NCIthesaurus

Axiom
annotated source: food allergy
annotated property: IAO_0000115
annotated target: A hypersensitivity reaction type I disease that is an abnormal response to a food, triggered by the body's immune system.
type: ECO_0007637
has db xref: url:http://www.niaid.nih.gov/topics/foodAllergy/understanding/Pages/whatIsIt.aspx

Churg-Strauss syndrome
type: Class
subclass of: DOID 865
IAO_0000115: A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding.
has db xref: ICD10CM:M30.1
has db xref: MESH:D015267
has db xref: NCI:C34481
has db xref: SNOMEDCT_US_2023_03_01:82275008
has db xref: UMLS_CUI:C0008728
has exact synonym: Allergic Granulomatous Angiitis
has exact synonym: Allergic granulomatosis angiitis
has exact synonym: Churg-Strauss vasculitis
has OBO namespace: disease_ontology
id: DOID:3049
in subset: NCIthesaurus

Axiom
annotated source: Churg-Strauss syndrome
annotated property: IAO_0000115
annotated target: A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding.
type: ECO_0007637
has db xref: url:http://www.hopkinsvasculitis.org/types-vasculitis/churgstrauss-syndrome-css/
has db xref: url:http://www.mayoclinic.com/health/churg-strauss-syndrome/DS00855

carcinoma
type: Class
subclass of: cancer
IAO_0000115: A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
has alternative id: DOID:2428
has alternative id: DOID:6570
has db xref: ICDO:8010/3
has db xref: MESH:D002277
has db xref: MESH:D009375
has db xref: NCI:C2916
has db xref: NCI:C3709
has db xref: SNOMEDCT_US_2023_03_01:188083002
has db xref: SNOMEDCT_US_2023_03_01:269513004
has db xref: SNOMEDCT_US_2023_03_01:71298006
has db xref: UMLS_CUI:C0007097
has db xref: UMLS_CUI:C0553707
has db xref: UMLS_CUI:C1368683
has exact synonym: epithelial cancer
has exact synonym: epithelioma
has exact synonym: malignant Epithelioma
has OBO namespace: disease_ontology
id: DOID:305
in subset: DO FlyBase slim
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: carcinoma
annotated property: IAO_0000115
annotated target: A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Carcinoma

paratyphoid fever
type: Class
subclass of: bacterial infectious disease
IAO_0000115: A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Salmonella enterica subsp enterica serovar Paratyphi A, B or C, which are transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, has_symptom malaise, has_symptom anorexia, has_symptom constipation, has_symptom rosy spots on the central body, has_symptom non productive cough (in early stage of illness), has_symptom bradycardia, and has_symptom hepatosplenomegaly.
has alternative id: DOID:13324
has alternative id: DOID:13325
has alternative id: DOID:3053
has db xref: ICD10CM:A01.1
has db xref: ICD10CM:A01.2
has db xref: ICD10CM:A01.3
has db xref: ICD10CM:A01.4
has db xref: ICD9CM:002.1
has db xref: ICD9CM:002.2
has db xref: ICD9CM:002.3
has db xref: ICD9CM:002.9
has db xref: MESH:D010284
has db xref: NCI:C34894
has db xref: NCI:C34895
has db xref: NCI:C34896
has db xref: NCI:C34897
has db xref: SNOMEDCT_US_2023_03_01:51254007
has db xref: SNOMEDCT_US_2023_03_01:71085009
has db xref: SNOMEDCT_US_2023_03_01:76623002
has db xref: SNOMEDCT_US_2023_03_01:85904008
has db xref: UMLS_CUI:C0030528
has db xref: UMLS_CUI:C0343375
has db xref: UMLS_CUI:C0343376
has db xref: UMLS_CUI:C0343377
has exact synonym: Paratyphoid
has exact synonym: Paratyphoid A fever
has exact synonym: Paratyphoid B fever
has exact synonym: Paratyphoid C fever
has exact synonym: Paratyphoid fever A
has exact synonym: Paratyphoid fever B
has exact synonym: Paratyphoid fever C
has exact synonym: paratyphoid a
has exact synonym: paratyphoid b
has exact synonym: paratyphoid c
has OBO namespace: disease_ontology
id: DOID:3055
in subset: DO infectious disease slim
in subset: NCIthesaurus
in subset: gram-negative bacterial infectious disease

Axiom
annotated source: paratyphoid fever
annotated property: IAO_0000115
annotated target: A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Salmonella enterica subsp enterica serovar Paratyphi A, B or C, which are transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, has_symptom malaise, has_symptom anorexia, has_symptom constipation, has_symptom rosy spots on the central body, has_symptom non productive cough (in early stage of illness), has_symptom bradycardia, and has_symptom hepatosplenomegaly.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Paratyphoid_fever

glioblastoma
type: Class
subclass of: malignant astrocytoma
IAO_0000115: A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.
has alternative id: DOID:3075
has alternative id: DOID:3080
has db xref: GARD:2491
has db xref: ICDO:9440/3
has db xref: MESH:D005909
has db xref: NCI:C129295
has db xref: NCI:C39750
has db xref: NCI:C9094
has db xref: SNOMEDCT_US_2023_03_01:63634009
has db xref: UMLS_CUI:C0017636
has db xref: UMLS_CUI:C0278878
has db xref: UMLS_CUI:C1514422
has exact synonym: GBM
has exact synonym: adult glioblastoma multiforme
has exact synonym: glioblastoma multiforme
has exact synonym: grade IV adult Astrocytic tumor
has exact synonym: primary glioblastoma multiforme
has exact synonym: spongioblastoma multiforme
has OBO namespace: disease_ontology
id: DOID:3068
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: glioblastoma
annotated property: IAO_0000115
annotated target: A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://cancergenome.nih.gov/cancersselected/glioblastomamultiforme
has db xref: url:http://en.wikipedia.org/wiki/Glioblastoma_multiforme
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/20129251
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/23029035

Axiom
annotated source: glioblastoma
annotated property: hasExactSynonym
annotated target: GBM
has synonym type: OMO_0003012

malignant astrocytoma
type: Class
subclass of: high grade glioma
IAO_0000115: A malignant glioma that is has_material_basis_in astrocyte cells, a type of star-shaped glial cell, located in the brain and spinal cord.
has alternative id: DOID:4861
has db xref: ICDO:9400/3
has db xref: MESH:D001254
has db xref: NCI:C4951
has db xref: NCI:C60781
has db xref: SNOMEDCT_US_2023_03_01:189914005
has db xref: SNOMEDCT_US_2023_03_01:99131000119108
has db xref: UMLS_CUI:C0004114
has db xref: UMLS_CUI:C0750935
has exact synonym: Astrocytic tumor
has exact synonym: astrocytoma of Cerebrum
has exact synonym: astrocytoma of brain
has exact synonym: astroglioma
has exact synonym: cerebral astrocytoma
has OBO namespace: disease_ontology
id: DOID:3069
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: malignant astrocytoma
annotated property: IAO_0000115
annotated target: A malignant glioma that is has_material_basis_in astrocyte cells, a type of star-shaped glial cell, located in the brain and spinal cord.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Astrocytoma

high grade glioma
type: Class
subclass of: cancer
IAO_0000115: A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.
has alternative id: DOID:2627
has db xref: ICDO:9380/3
has db xref: KEGG:05214
has db xref: MESH:D005910
has db xref: MIM:PS137800
has db xref: NCI:C3059
has db xref: NCI:C4822
has db xref: ORDO:182067
has db xref: SNOMEDCT_US_2023_03_01:393564001
has db xref: SNOMEDCT_US_2023_03_01:74532006
has db xref: UMLS_CUI:C0017638
has db xref: UMLS_CUI:C0555198
has exact synonym: Neuroglial tumor
has exact synonym: glial cell tumor
has exact synonym: glioma, malignant
has exact synonym: malignant Neuroglial tumor
has exact synonym: malignant glioma
has OBO namespace: disease_ontology
id: DOID:3070
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: high grade glioma
annotated property: IAO_0000115
annotated target: A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Malignant_glioma

gliosarcoma
type: Class
subclass of: glioblastoma
IAO_0000115: A gliomablastoma that is characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation.
has db xref: GARD:5653
has db xref: ICDO:9442/3
has db xref: MESH:D018316
has db xref: NCI:C3796
has db xref: SNOMEDCT_US_2023_03_01:35262004
has db xref: UMLS_CUI:C0206726
has exact synonym: Glioblastoma with sarcomatous component
has OBO namespace: disease_ontology
id: DOID:3071
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: gliosarcoma
annotated property: IAO_0000115
annotated target: A gliomablastoma that is characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation.
has db xref: url:https://en.wikipedia.org/wiki/Gliosarcoma
has db xref: url:https://www.cancer.gov/rare-brain-spine-tumor/tumors/gliosarcoma

brain glioblastoma multiforme
type: Class
subclass of: brain cancer
IAO_0000115: A brain glioma that has_material_basis_in abnormally proliferating cells derives_from glial cells, has_symptom seizure, headaches, nausea and vomiting, memory loss, changes to personality, mood or concentration; and localized neurological problems.
has db xref: NCI:C4642
has db xref: SNOMEDCT_US_2023_03_01:276828006
has db xref: UMLS_CUI:C0349543
has exact synonym: Glioblastoma multiforme of brain
has exact synonym: brain Glioblastoma
has OBO namespace: disease_ontology
id: DOID:3073
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: brain glioblastoma multiforme
annotated property: IAO_0000115
annotated target: A brain glioma that has_material_basis_in abnormally proliferating cells derives_from glial cells, has_symptom seizure, headaches, nausea and vomiting, memory loss, changes to personality, mood or concentration; and localized neurological problems.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Glioblastoma

giant cell glioblastoma
type: Class
subclass of: glioblastoma
IAO_0000115: A glioblastoma that is characterized by a prevalence of bizarre, multinucleated giant cells.
has db xref: ICDO:9441/3
has db xref: MESH:D005909
has db xref: NCI:C4325
has db xref: SNOMEDCT_US_2023_03_01:44529004
has db xref: UMLS_CUI:C0334588
has exact synonym: Monstrocellular sarcoma
has OBO namespace: disease_ontology
id: DOID:3074
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: giant cell glioblastoma
annotated property: IAO_0000115
annotated target: A glioblastoma that is characterized by a prevalence of bizarre, multinucleated giant cells.
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/Giant-cell_glioblastoma
has db xref: url:http://neuro-oncology.oxfordjournals.org/content/11/6/833.full

adult astrocytic tumor
type: Class
subclass of: malignant astrocytoma
IAO_0000115: A malignant astrocytoma that occurs during adulthood.
has db xref: NCI:C7049
has db xref: UMLS_CUI:C1332183
has exact synonym: adult astrocytic tumour
has exact synonym: adult astrocytoma
has OBO namespace: disease_ontology
id: DOID:3076
in subset: NCIthesaurus

Axiom
annotated source: adult astrocytic tumor
annotated property: IAO_0000115
annotated target: A malignant astrocytoma that occurs during adulthood.
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C7049

anaplastic astrocytoma
type: Class
subclass of: malignant astrocytoma
IAO_0000115: A malignant astrocytoma that is characterized by cells with regular, round to oval nuclei.
has db xref: GARD:5860
has db xref: MESH:D001254
has db xref: NCI:C9477
has db xref: SNOMEDCT_US_2023_03_01:55353007
has db xref: UMLS_CUI:C0334579
has exact synonym: grade III Astrocytic tumor
has exact synonym: grade III astrocytoma
has OBO namespace: disease_ontology
id: DOID:3078
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: anaplastic astrocytoma
annotated property: IAO_0000115
annotated target: A malignant astrocytoma that is characterized by cells with regular, round to oval nuclei.
type: ECO_0007638
type: ECO_0007641
has db xref: url:http://en.wikipedia.org/wiki/Anaplastic_astrocytoma
has db xref: url:http://www.cancer.gov/dictionary?CdrID=45591

childhood astrocytic tumor
type: Class
subclass of: malignant astrocytoma
has db xref: NCI:C9022
has db xref: SNOMEDCT_US_2023_03_01:128854008
has db xref: UMLS_CUI:C1321865
has exact synonym: juvenile astrocytoma
has exact synonym: pediatric astrocytoma
has OBO namespace: disease_ontology
id: DOID:3079
in subset: DO childhood cancer slim
in subset: NCIthesaurus

cystic lymphangioma
type: Class
subclass of: lymphangioma
has db xref: GARD:6234
has db xref: ICDO:9173/0
has db xref: MESH:D018191
has db xref: MIM:257350
has db xref: NCI:C3724
has db xref: SNOMEDCT_US_2023_03_01:40225001
has db xref: UMLS_CUI:C0206620
has exact synonym: cystic Hygroma
has OBO namespace: disease_ontology
id: DOID:3081
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

interstitial lung disease
type: Class
subclass of: DOID 850
IAO_0000115: A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.
has db xref: GARD:13336
has db xref: ICD10CM:J84.9
has db xref: MESH:D017563
has db xref: MIM:PS619611
has db xref: NCI:C164315
has db xref: SNOMEDCT_US_2023_03_01:64667001
has db xref: UMLS_CUI:C0206062
has exact synonym: ILD
has OBO namespace: disease_ontology
id: DOID:3082
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: interstitial lung disease
annotated property: IAO_0000115
annotated target: A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4215823/

Axiom
annotated source: interstitial lung disease
annotated property: hasExactSynonym
annotated target: ILD
has synonym type: OMO_0003012

chronic obstructive pulmonary disease
type: Class
subclass of: DOID 850
IAO_0000115: An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.
has alternative id: DOID:11500
has alternative id: DOID:6144
has db xref: EFO:0000341
has db xref: ICD10CM:J44.9
has db xref: MESH:D029424
has db xref: MIM:606963
has db xref: NCI:C3199
has db xref: SNOMEDCT_US_2023_03_01:13645005
has db xref: UMLS_CUI:C0024117
has exact synonym: COLD
has exact synonym: COPD
has exact synonym: chronic obstructive airway disease
has exact synonym: chronic obstructive lung disease
has OBO namespace: disease_ontology
id: DOID:3083
in subset: DO RAD slim
in subset: NCIthesaurus

Axiom
annotated source: chronic obstructive pulmonary disease
annotated property: IAO_0000115
annotated target: An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/28513453/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/32745458/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/32800196/
has db xref: url:https://www.nhlbi.nih.gov/health/copd

Axiom
annotated source: chronic obstructive pulmonary disease
annotated property: hasExactSynonym
annotated target: COLD
has synonym type: OMO_0003012

Axiom
annotated source: chronic obstructive pulmonary disease
annotated property: hasExactSynonym
annotated target: COPD
has synonym type: OMO_0003012

gingivitis
type: Class
subclass of: gingival disease
has alternative id: DOID:10422
has alternative id: DOID:10424
has db xref: ICD10CM:K05.0
has db xref: ICD10CM:K05.1
has db xref: ICD10CM:K05.10
has db xref: ICD9CM:523.0
has db xref: ICD9CM:523.1
has db xref: MESH:D005891
has db xref: NCI:C34474
has db xref: NCI:C34636
has db xref: SNOMEDCT_US_2023_03_01:155643004
has db xref: SNOMEDCT_US_2023_03_01:196355002
has db xref: SNOMEDCT_US_2023_03_01:266490003
has db xref: UMLS_CUI:C0008684
has db xref: UMLS_CUI:C0017574
has db xref: UMLS_CUI:C0155937
has exact synonym: acute gingivitis
has exact synonym: chronic gingivitis
has OBO namespace: disease_ontology
id: DOID:3087
in subset: NCIthesaurus

granulomatous orchitis
type: Class
subclass of: testicular disease
has db xref: NCI:C27162
has db xref: SNOMEDCT_US_2023_03_01:50390006
has db xref: UMLS_CUI:C0436545
has exact synonym: Non-Specific Granulomatous Orchitis
has OBO namespace: disease_ontology
id: DOID:3089
in subset: NCIthesaurus

nervous system cancer
type: Class
subclass of: cancer
IAO_0000115: An organ system cancer located_in the nervous system that affects the central or peripheral nervous system.
has alternative id: DOID:1193
has alternative id: DOID:3195
has alternative id: DOID:4695
has db xref: ICD9CM:192.9
has db xref: MESH:D009380
has db xref: NCI:C35562
has db xref: SNOMEDCT_US_2023_03_01:188306000
has db xref: UMLS_CUI:C0027665
has db xref: UMLS_CUI:C0153643
has db xref: UMLS_CUI:C1334956
has exact synonym: malignant neoplasm of nervous system
has exact synonym: neoplasm of nervous system
has exact synonym: nervous system neoplasm
has exact synonym: neural neoplasm
has exact synonym: neural tumor
has exact synonym: tumor of the nervous system
has OBO namespace: disease_ontology
id: DOID:3093
in subset: NCIthesaurus

Axiom
annotated source: nervous system cancer
annotated property: IAO_0000115
annotated target: An organ system cancer located_in the nervous system that affects the central or peripheral nervous system.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Nervous_system_disease

small cell sarcoma
type: Class
subclass of: cancer
IAO_0000115: A sarcoma characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm.
has db xref: ICDO:8803/3
has db xref: MESH:D018228
has db xref: NCI:C3746
has db xref: SNOMEDCT_US_2023_03_01:73506006
has db xref: UMLS_CUI:C0206652
has OBO namespace: disease_ontology
id: DOID:3098
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: small cell sarcoma
annotated property: IAO_0000115
annotated target: A sarcoma characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/36202860/

MERRF syndrome
type: Class
subclass of: DOID 699
has db xref: ICD10CM:E88.42
has db xref: MESH:D017243
has db xref: MIM:545000
has db xref: NCI:C84889
has db xref: SNOMEDCT_US_2023_03_01:68448003
has db xref: UMLS_CUI:C0162672
has exact synonym: Fukuhara syndrome
has exact synonym: Myoclonic epilepsy - ragged red fibers
has exact synonym: Myoclonus epilepsy AND ragged red fibers
has exact synonym: Myoclonus with epilepsy and with Ragged Red Fibers
has OBO namespace: disease_ontology
id: DOID:310
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

thoracic outlet syndrome
type: Class
subclass of: vascular disease
IAO_0000115: A vascular disease that is characterized by compression at the superior thoracic outlet[1] resulting from excess pressure placed on a neurovascular bundle passing between the anterior scalene and middle scalene muscles.
has db xref: GARD:7759
has db xref: ICD10CM:G54.0
has db xref: MESH:D013901
has db xref: NCI:C85188
has db xref: SNOMEDCT_US_2023_03_01:2040007
has db xref: UMLS_CUI:C0039984
has exact synonym: TOS - Thoracic outlet syndrome
has OBO namespace: disease_ontology
id: DOID:3103
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: thoracic outlet syndrome
annotated property: IAO_0000115
annotated target: A vascular disease that is characterized by compression at the superior thoracic outlet[1] resulting from excess pressure placed on a neurovascular bundle passing between the anterior scalene and middle scalene muscles.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Thoracic_outlet_syndrome

idiopathic CD4-positive T-lymphocytopenia
type: Class
subclass of: DOID 74
IAO_0000115: A lymphopenia that is caused by a reduction of CD4+ T lymphocytes.
has db xref: MESH:D018344
has db xref: NCI:C84780
has db xref: UMLS_CUI:C0206744
has OBO namespace: disease_ontology
id: DOID:3109
in subset: NCIthesaurus

Axiom
annotated source: idiopathic CD4-positive T-lymphocytopenia
annotated property: IAO_0000115
annotated target: A lymphopenia that is caused by a reduction of CD4+ T lymphocytes.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Idiopathic_CD4%2B_lymphocytopenia

papillary cystadenocarcinoma
type: Class
subclass of: cystadenocarcinoma
IAO_0000115: A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with cysts and papillary endophytic projections.
has db xref: GARD:10162
has db xref: ICDO:8450/3
has db xref: MESH:D018283
has db xref: NCI:C3777
has db xref: SNOMEDCT_US_2023_03_01:2735009
has db xref: UMLS_CUI:C0206700
has OBO namespace: disease_ontology
id: DOID:3110
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: papillary cystadenocarcinoma
annotated property: IAO_0000115
annotated target: A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with cysts and papillary endophytic projections.
type: ECO_0007645
has db xref: url:http://www.sciencedirect.com/science/article/pii/S1741940905000841

cystadenocarcinoma
type: Class
subclass of: cancer
IAO_0000115: An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, in which cystic accumulations of retained secretions are formed.
has db xref: ICDO:8440/3
has db xref: MESH:D003536
has db xref: NCI:C2971
has db xref: SNOMEDCT_US_2023_03_01:21008007
has db xref: UMLS_CUI:C0010631
has OBO namespace: disease_ontology
id: DOID:3111
in subset: NCIthesaurus

Axiom
annotated source: cystadenocarcinoma
annotated property: IAO_0000115
annotated target: An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, in which cystic accumulations of retained secretions are formed.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Cystadenocarcinoma

papillary adenocarcinoma
type: Class
subclass of: adenocarcinoma
IAO_0000115: An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures and exhibit compressive, destructive growth that replaces the normal tissue.
has alternative id: DOID:5596
has db xref: ICDO:8260/3
has db xref: MESH:D000231
has db xref: NCI:C2853
has db xref: SNOMEDCT_US_2023_03_01:4797003
has db xref: UMLS_CUI:C0001420
has exact synonym: Infiltrating and papillary adenocarcinoma
has exact synonym: infiltrating papillary adenocarcinoma
has OBO namespace: disease_ontology
id: DOID:3112
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: papillary adenocarcinoma
annotated property: IAO_0000115
annotated target: An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures and exhibit compressive, destructive growth that replaces the normal tissue.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Papillary_adenocarcinoma

papillary carcinoma
type: Class
subclass of: carcinoma
IAO_0000115: A carcinoma that is derives_from epithelial cells with finger like projections.
has db xref: ICDO:8050/3
has db xref: MESH:D002291
has db xref: NCI:C2927
has db xref: SNOMEDCT_US_2023_03_01:25910003
has db xref: UMLS_CUI:C0007133
has OBO namespace: disease_ontology
id: DOID:3113
in subset: NCIthesaurus

Axiom
annotated source: papillary carcinoma
annotated property: IAO_0000115
annotated target: A carcinoma that is derives_from epithelial cells with finger like projections.
has db xref: url:http://breastcancer.about.com/od/types/p/papillary_ca.htm

serous cystadenocarcinoma
type: Class
subclass of: cystadenocarcinoma
IAO_0000115: A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions.
has db xref: MESH:D018284
has db xref: NCI:C3778
has db xref: SNOMEDCT_US_2023_03_01:90725004
has db xref: UMLS_CUI:C0206701
has exact synonym: serous adenocarcinoma
has exact synonym: serous carcinoma
has OBO namespace: disease_ontology
id: DOID:3114
in subset: NCIthesaurus

Axiom
annotated source: serous cystadenocarcinoma
annotated property: IAO_0000115
annotated target: A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions.
type: ECO_0007645
has db xref: url:http://ukpmc.ac.uk/abstract/MED/16025006

kidney benign neoplasm
type: Class
subclass of: DOID 731
has db xref: NCI:C7514
has db xref: UMLS_CUI:C1334323
has exact synonym: renal and ureteral tumor
has OBO namespace: disease_ontology
id: DOID:3116
in subset: NCIthesaurus

hepatobiliary benign neoplasm
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A gastrointestinal system benign neoplasm located_in the hepatobiliary system.
has db xref: NCI:C8614
has db xref: UMLS_CUI:C0854196
has exact synonym: hepatobiliary tumors
has OBO namespace: disease_ontology
id: DOID:3117
in subset: NCIthesaurus

Axiom
annotated source: hepatobiliary benign neoplasm
annotated property: IAO_0000115
annotated target: A gastrointestinal system benign neoplasm located_in the hepatobiliary system.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Hepatobiliary_system

hepatobiliary disease
type: Class
subclass of: disease
IAO_0000115: A gastrointestinal system disease that is located_in the liver and/or biliary tract.
has db xref: MESH:D004066
has db xref: NCI:C3959
has db xref: UMLS_CUI:C0267792
has exact synonym: liver and biliary tract disease
has OBO namespace: disease_ontology
id: DOID:3118
in subset: NCIthesaurus

Axiom
annotated source: hepatobiliary disease
annotated property: IAO_0000115
annotated target: A gastrointestinal system disease that is located_in the liver and/or biliary tract.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Hepato-biliary_diseases

gastrointestinal system cancer
type: Class
subclass of: cancer
IAO_0000115: An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system.
has alternative id: DOID:4945
has alternative id: DOID:8377
has db xref: ICD10CM:C26.9
has db xref: ICD9CM:239.0
has db xref: MESH:D004067
has db xref: MESH:D005770
has db xref: NCI:C3052
has db xref: NCI:C4890
has db xref: SNOMEDCT_US_2023_03_01:128348002
has db xref: SNOMEDCT_US_2023_03_01:276806006
has db xref: SNOMEDCT_US_2023_03_01:428905002
has db xref: UMLS_CUI:C0012243
has db xref: UMLS_CUI:C0017185
has db xref: UMLS_CUI:C0685938
has exact synonym: GI tumor
has exact synonym: digestive system cancer
has exact synonym: gastrointestinal tract cancer
has OBO namespace: disease_ontology
id: DOID:3119
in subset: DO FlyBase slim
in subset: DO cancer slim
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim

Axiom
annotated source: gastrointestinal system cancer
annotated property: IAO_0000115
annotated target: An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Human_gastrointestinal_tract

gallbladder papillomatosis
type: Class
subclass of: gallbladder benign neoplasm
IAO_0000115: A gallbladder benign neoplasm composed of epithelial tissue on papillae of vascularized connective tissue.
has db xref: NCI:C7130
has db xref: UMLS_CUI:C1333754
has OBO namespace: disease_ontology
id: DOID:3120
in subset: NCIthesaurus

Axiom
annotated source: gallbladder papillomatosis
annotated property: IAO_0000115
annotated target: A gallbladder benign neoplasm composed of epithelial tissue on papillae of vascularized connective tissue.
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/25351203/

gallbladder cancer
type: Class
subclass of: gastrointestinal system cancer
IAO_0000115: A biliary tract cancer that is located_in the gallbladder.
has alternative id: DOID:8090
has alternative id: DOID:8157
has db xref: GARD:9328
has db xref: ICD10CM:C23
has db xref: ICD9CM:156.0
has db xref: MESH:D005706
has db xref: NCI:C3048
has db xref: NCI:C35676
has db xref: NCI:C7481
has db xref: SNOMEDCT_US_2023_03_01:126854002
has db xref: SNOMEDCT_US_2023_03_01:93810008
has db xref: UMLS_CUI:C0016978
has db xref: UMLS_CUI:C0153452
has db xref: UMLS_CUI:C0278806
has exact synonym: gallbladder Ca
has exact synonym: gallbladder neoplasm
has exact synonym: localized malignant gallbladder neoplasm
has exact synonym: malignant neoplasm of gallbladder
has exact synonym: malignant tumor of the gallbladder
has exact synonym: malignant tumour of gallbladder
has exact synonym: tumor of the gallbladder
has OBO namespace: disease_ontology
id: DOID:3121
in subset: DO rare slim
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim

Axiom
annotated source: gallbladder cancer
annotated property: IAO_0000115
annotated target: A biliary tract cancer that is located_in the gallbladder.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Gallbladder

proctitis
type: Class
subclass of: DOID 5295
IAO_0000115: A rectal disease that involves inflammation of the rectal mucosa, which results from infection, inflammatory bowel disease, or radiation. Sexually transmitted pathogens (Neisseria gonorrhoeae, Chlamydia trachomatis, herpes simplex virus 1 and 2, Treponema pallidum) and enteric pathogens (Campylobacter, Shigella, Salmonella) are involved in the disease. Symptoms are rectal discomfort and bleeding.
has db xref: ICD10CM:K62.89
has db xref: MESH:D011349
has db xref: NCI:C38011
has db xref: SNOMEDCT_US_2023_03_01:266534007
has db xref: UMLS_CUI:C0033246
has narrow synonym: ulcerative proctitis
has OBO namespace: disease_ontology
id: DOID:3127
in subset: NCIthesaurus

Axiom
annotated source: proctitis
annotated property: IAO_0000115
annotated target: A rectal disease that involves inflammation of the rectal mucosa, which results from infection, inflammatory bowel disease, or radiation. Sexually transmitted pathogens (Neisseria gonorrhoeae, Chlamydia trachomatis, herpes simplex virus 1 and 2, Treponema pallidum) and enteric pathogens (Campylobacter, Shigella, Salmonella) are involved in the disease. Symptoms are rectal discomfort and bleeding.
type: ECO_0007637
has db xref: url:http://www.cdc.gov/std/Treatment/2006/proctitis.htm
has db xref: url:http://www.merck.com/mmpe/sec02/ch020/ch020i.html#sec02-ch020-ch020g-1361

anus disease
type: Class
subclass of: DOID 5295
IAO_0000115: A rectal disease located_in the anus.
has alternative id: DOID:11479
has alternative id: DOID:11993
has db xref: MESH:D001004
has db xref: NCI:C26695
has db xref: SNOMEDCT_US_2023_03_01:32110003
has db xref: UMLS_CUI:C0003462
has exact synonym: Nontraumatic tear of anus
has exact synonym: Solitary anal ulcer
has exact synonym: Ulcer of anus
has exact synonym: anal disease
has exact synonym: anal fissure
has exact synonym: anal fissure and fistula
has exact synonym: anal ulcer
has exact synonym: fissure in ano
has OBO namespace: disease_ontology
id: DOID:3128
in subset: NCIthesaurus

Axiom
annotated source: anus disease
annotated property: IAO_0000115
annotated target: A rectal disease located_in the anus.
has db xref: url:https://www.health.harvard.edu/a_to_z/anal-disorders-a-to-z

porphyria cutanea tarda
type: Class
subclass of: porphyria
IAO_0000115: An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin.
has db xref: GARD:7433
has db xref: ICD10CM:E80.1
has db xref: MESH:D017119
has db xref: MIM:176090
has db xref: MIM:176100
has db xref: NCI:C27725
has db xref: ORDO:101330
has db xref: SNOMEDCT_US_2023_03_01:61860000
has db xref: UMLS_CUI:C0162566
has OBO namespace: disease_ontology
id: DOID:3132
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: porphyria cutanea tarda
annotated property: IAO_0000115
annotated target: An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin.
type: ECO_0007636
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Porphyria_cutanea_tarda
has db xref: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/321/viewAbstract

acanthosis nigricans
type: Class
subclass of: skin disease
IAO_0000115: A pigmentation disease characterized by velvety, darkening of the skin usually in intertriginous areas.
has db xref: GARD:8603
has db xref: ICD10CM:L83
has db xref: MESH:D000052
has db xref: MIM:100600
has db xref: MIM:200170
has db xref: NCI:C26687
has db xref: SNOMEDCT_US_2023_03_01:72129000
has db xref: UMLS_CUI:C0000889
has exact synonym: keratosis nigricans
has OBO namespace: disease_ontology
id: DOID:3138
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: acanthosis nigricans
annotated property: IAO_0000115
annotated target: A pigmentation disease characterized by velvety, darkening of the skin usually in intertriginous areas.
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/32516476/
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK431057/

tenosynovial giant cell tumor
type: Class
subclass of: benign giant cell tumor
has db xref: ICD9CM:727.02
has db xref: ICDO:9252/0
has db xref: MESH:D000070779
has db xref: NCI:C3402
has db xref: SNOMEDCT_US_2023_03_01:310605004
has db xref: UMLS_CUI:C1318543
has exact synonym: Giant cell tumor of Tenosynovium
has exact synonym: Giant cell tumor of tendon sheath
has exact synonym: Giant cell tumour of Tenosynovium
has exact synonym: Giant cell tumour of tendon sheath
has exact synonym: fibrous histiocytoma of tendon sheath
has exact synonym: tenosynovial giant cell tumour
has OBO namespace: disease_ontology
id: DOID:314
in subset: DO cancer slim
in subset: NCIthesaurus

scleredema adultorum
type: Class
subclass of: skin disease
IAO_0000115: A skin disease that is characterized by induration of the skin, especially of the neck and upper trunk, has_symptom skin hardening or stiffening, and is associated with infections (especially streptococcal), hematologic malignancies, diabetes, and adverse drug reactions.
has db xref: GARD:5975
has db xref: MESH:D012592
has db xref: NCI:C85057
has db xref: SNOMEDCT_US_2023_03_01:72967001
has db xref: UMLS_CUI:C0036413
has exact synonym: Buschke's scleredema
has OBO namespace: disease_ontology
id: DOID:3140
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: scleredema adultorum
annotated property: IAO_0000115
annotated target: A skin disease that is characterized by induration of the skin, especially of the neck and upper trunk, has_symptom skin hardening or stiffening, and is associated with infections (especially streptococcal), hematologic malignancies, diabetes, and adverse drug reactions.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/30128796

cutis laxa
type: Class
subclass of: skin disease
IAO_0000115: A skin disease characterized by loose, hanging, wrinkled skin lacking in elasticity.
has db xref: GARD:6227
has db xref: ICD10CM:Q82.8
has db xref: MESH:D003483
has db xref: MIM:PS123700
has db xref: NCI:C84663
has db xref: ORDO:209
has db xref: SNOMEDCT_US_2023_03_01:238825007
has db xref: UMLS_CUI:C0010495
has exact synonym: loose skin
has OBO namespace: disease_ontology
id: DOID:3144
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: cutis laxa
annotated property: IAO_0000115
annotated target: A skin disease characterized by loose, hanging, wrinkled skin lacking in elasticity.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Cutis_laxa
has db xref: url:http://ghr.nlm.nih.gov/condition/cutis-laxa
has db xref: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/175/viewAbstract

hyperlipoproteinemia type III
type: Class
subclass of: familial hyperlipidemia
IAO_0000115: A familial hyperlipidemia that has_material_basis_in by homozygous, compound heterozygous, or heterozygous mutation in the APOE gene on chromosome 19q13.
has db xref: MESH:D006952
has db xref: MIM:617347
has db xref: NCI:C34710
has db xref: SNOMEDCT_US_2023_03_01:42569002
has db xref: UMLS_CUI:C0020479
has exact synonym: Remnant hyperlipidemia
has exact synonym: carbohydrate induced hyperlipemia
has exact synonym: familial hypercholesterolaemia with hyperlipaemia
has exact synonym: familial type 3 hyperlipoproteinemia
has OBO namespace: disease_ontology
id: DOID:3145
in subset: NCIthesaurus

Axiom
annotated source: hyperlipoproteinemia type III
annotated property: IAO_0000115
annotated target: A familial hyperlipidemia that has_material_basis_in by homozygous, compound heterozygous, or heterozygous mutation in the APOE gene on chromosome 19q13.
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/27481046/

keratoacanthoma
type: Class
subclass of: skin squamous cell carcinoma
has db xref: MESH:D007636
has db xref: NCI:C3146
has db xref: SNOMEDCT_US_2023_03_01:201061007
has db xref: UMLS_CUI:C0022572
has OBO namespace: disease_ontology
id: DOID:3149
in subset: NCIthesaurus

synovium neoplasm
type: Class
subclass of: connective tissue benign neoplasm
has db xref: NCI:C8964
has db xref: SNOMEDCT_US_2023_03_01:189829008
has db xref: UMLS_CUI:C0476203
has exact synonym: Synovial neoplasm
has exact synonym: tumor of Synovium
has OBO namespace: disease_ontology
id: DOID:315
in subset: NCIthesaurus

skin squamous cell carcinoma
type: Class
subclass of: skin carcinoma
IAO_0000115: A skin carcinoma that has_material_basis_in squamous cells.
has db xref: NCI:C4819
has db xref: SNOMEDCT_US_2023_03_01:254651007
has db xref: UMLS_CUI:C0553723
has exact synonym: Epidermoid skin carcinoma
has OBO namespace: disease_ontology
has related synonym: squamous cell carcinoma of skin
id: DOID:3151
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: skin squamous cell carcinoma
annotated property: IAO_0000115
annotated target: A skin carcinoma that has_material_basis_in squamous cells.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma

hypomelanosis of Ito
type: Class
subclass of: skin disease
IAO_0000115: A skin disease that is characterized by distinctive skin changes, in which areas of the body lack skin color (hypopigmentation).
has db xref: MESH:D010859
has db xref: MIM:300337
has db xref: NCI:C7582
has db xref: SNOMEDCT_US_2023_03_01:367520004
has db xref: UMLS_CUI:C0022283
has exact synonym: Bloch-Siemans syndrome
has exact synonym: Incontinentia pigmenti achromians syndrome
has exact synonym: Ito's nevus
has exact synonym: incontinentia pigmenti achromians
has exact synonym: nevus of Ito
has OBO namespace: disease_ontology
id: DOID:3156
in subset: NCIthesaurus

Axiom
annotated source: hypomelanosis of Ito
annotated property: IAO_0000115
annotated target: A skin disease that is characterized by distinctive skin changes, in which areas of the body lack skin color (hypopigmentation).
type: ECO_0007636
has db xref: url:https://rarediseases.org/rare-diseases/hypomelanosis-of-ito/

malignant spindle cell melanoma
type: Class
subclass of: melanoma
IAO_0000115: A melanoma that is composed of spindled neoplastic cells arranged in sheets and fascicles.
has db xref: NCI:C4237
has db xref: SNOMEDCT_US_2023_03_01:68827007
has db xref: UMLS_CUI:C0334444
has exact synonym: Spitzoid malignant melanoma
has exact synonym: spindle cell malignant melanoma
has exact synonym: spindle cell melanoma
has OBO namespace: disease_ontology
has related synonym: desmoplastic melanoma
id: DOID:3162
in subset: NCIthesaurus

Axiom
annotated source: malignant spindle cell melanoma
annotated property: IAO_0000115
annotated target: A melanoma that is composed of spindled neoplastic cells arranged in sheets and fascicles.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6144801/

skin benign neoplasm
type: Class
subclass of: organ system benign neoplasm
has db xref: MESH:D012878
has db xref: NCI:C3372
has db xref: SNOMEDCT_US_2023_03_01:126488004
has db xref: UMLS_CUI:C0037286
has exact synonym: neoplasm of skin
has exact synonym: neoplasm of skin by site
has exact synonym: skin neoplasm
has exact synonym: tumor of the skin
has OBO namespace: disease_ontology
id: DOID:3165
in subset: NCIthesaurus

squamous cell neoplasm
type: Class
subclass of: disease
IAO_0000115: A cell type benign neoplasm composed_of epithelial cells located_in the ectodermal or endodermal cells linking body cavities.
has db xref: MESH:D018307
has db xref: NCI:C3792
has db xref: SNOMEDCT_US_2023_03_01:118286007
has db xref: UMLS_CUI:C0206720
has exact synonym: Epidermoid cell tumor
has exact synonym: squamous cell tumor
has OBO namespace: disease_ontology
id: DOID:3168
in subset: NCIthesaurus

Axiom
annotated source: squamous cell neoplasm
annotated property: IAO_0000115
annotated target: A cell type benign neoplasm composed_of epithelial cells located_in the ectodermal or endodermal cells linking body cavities.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma

papillary adenoma
type: Class
subclass of: DOID 657
has db xref: ICDO:8260/0
has db xref: MESH:D000236
has db xref: NCI:C79951
has db xref: SNOMEDCT_US_2023_03_01:86143001
has db xref: UMLS_CUI:C0205650
has exact synonym: glandular papilloma
has OBO namespace: disease_ontology
id: DOID:3172
in subset: NCIthesaurus

fallopian tube serous papilloma
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A fallopian tube benign neoplasm that has_material_basis_in the serosa and is characterized by exophytic growth.
has db xref: NCI:C40112
has db xref: UMLS_CUI:C1517123
has OBO namespace: disease_ontology
id: DOID:3173
in subset: NCIthesaurus

Axiom
annotated source: fallopian tube serous papilloma
annotated property: IAO_0000115
annotated target: A fallopian tube benign neoplasm that has_material_basis_in the serosa and is characterized by exophytic growth.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007641
has db xref: url:https://en.wikipedia.org/wiki/Papilloma
has db xref: url:https://www.cancer.gov/publications/dictionaries/cancer-terms/search?contains=true&q=serous

verrucous papilloma
type: Class
subclass of: papilloma
has db xref: ICDO:8051/0
has db xref: NCI:C4101
has db xref: SNOMEDCT_US_2023_03_01:48218007
has db xref: UMLS_CUI:C0334243
has OBO namespace: disease_ontology
id: DOID:3177
in subset: NCIthesaurus

skin papilloma
type: Class
subclass of: skin benign neoplasm
IAO_0000115: A skin benign neoplasm that is composed of epithelial cells and a fibrous stalk.
has db xref: NCI:C4614
has db xref: SNOMEDCT_US_2023_03_01:189051001
has db xref: UMLS_CUI:C0347390
has exact synonym: cutaneous papilloma
has exact synonym: papilloma of skin
has OBO namespace: disease_ontology
id: DOID:3178
in subset: NCIthesaurus

Axiom
annotated source: skin papilloma
annotated property: IAO_0000115
annotated target: A skin benign neoplasm that is composed of epithelial cells and a fibrous stalk.
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK560737/

inverted papilloma
type: Class
subclass of: papilloma
has db xref: MESH:D018308
has db xref: NCI:C3793
has db xref: SNOMEDCT_US_2023_03_01:104081000119103
has db xref: UMLS_CUI:C0206721
has exact synonym: Inverted papilloma, squamous cell
has OBO namespace: disease_ontology
id: DOID:3179
in subset: NCIthesaurus

progressive muscular atrophy
type: Class
subclass of: neurodegenerative disease
has db xref: ICD9CM:335.21
has db xref: MESH:D009134
has db xref: NCI:C85027
has db xref: SNOMEDCT_US_2023_03_01:88923002
has db xref: UMLS_CUI:C0917981
has exact synonym: Pure progressive muscular atrophy
has exact synonym: progressive spinal muscular atrophy
has OBO namespace: disease_ontology
id: DOID:318
in subset: NCIthesaurus

oligodendroglioma
type: Class
subclass of: high grade glioma
has alternative id: DOID:3182
has db xref: GARD:9953
has db xref: ICDO:9450/3
has db xref: MESH:D009837
has db xref: NCI:C3288
has db xref: UMLS_CUI:C0751396
has exact synonym: oligodendroglial neoplasm
has exact synonym: oligodendroglial tumor
has OBO namespace: disease_ontology
id: DOID:3181
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

childhood oligodendroglioma
type: Class
subclass of: oligodendroglioma
has db xref: MESH:D009837
has db xref: NCI:C4045
has db xref: UMLS_CUI:C0280475
has exact synonym: pediatric Oligodendroglioma
has OBO namespace: disease_ontology
id: DOID:3183
in subset: DO cancer slim
in subset: DO childhood cancer slim
in subset: NCIthesaurus

spinal cord oligodendroglioma
type: Class
subclass of: spinal cord glioma
has db xref: NCI:C4535
has db xref: SNOMEDCT_US_2023_03_01:254950006
has db xref: UMLS_CUI:C0346295
has exact synonym: Oligodendroglioma of spinal cord
has exact synonym: Well differentiated Spinal Cord Oligodendroglioma
has OBO namespace: disease_ontology
id: DOID:3184
in subset: NCIthesaurus

spinal cord glioma
type: Class
subclass of: DOID 5612
IAO_0000115: A spinal cancer that is located in the spinal cord and has_material_basis_in glial cells.
has db xref: NCI:C4534
has db xref: SNOMEDCT_US_2023_03_01:254946004
has db xref: UMLS_CUI:C2937245
has exact synonym: Glial neoplasm Spinal Cord
has exact synonym: Glial tumor of spinal cord
has exact synonym: glioma of spinal cord
has OBO namespace: disease_ontology
id: DOID:3185
in subset: NCIthesaurus

Axiom
annotated source: spinal cord glioma
annotated property: IAO_0000115
annotated target: A spinal cancer that is located in the spinal cord and has_material_basis_in glial cells.
type: ECO_0007637
type: ECO_0007641
has db xref: url:http://www.cancer.gov/dictionary?CdrID=45700

adult oligodendroglioma
type: Class
subclass of: oligodendroglioma
has alternative id: DOID:7355
has db xref: MESH:D009837
has db xref: NCI:C4014
has db xref: NCI:C9376
has db xref: UMLS_CUI:C0279070
has db xref: UMLS_CUI:C1332190
has exact synonym: adult brain oligodendroglioma
has exact synonym: grade II adult Oligodendroglial tumor
has OBO namespace: disease_ontology
id: DOID:3186
in subset: NCIthesaurus

brain oligodendroglioma
type: Class
subclass of: brain cancer
IAO_0000115: A brain glioma that has_material_basis_in oligodendrocytes.
has db xref: NCI:C9377
has db xref: SNOMEDCT_US_2023_03_01:254940005
has db xref: UMLS_CUI:C0346286
has exact synonym: Oligodendroglioma of brain
has OBO namespace: disease_ontology
id: DOID:3187
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: brain oligodendroglioma
annotated property: IAO_0000115
annotated target: A brain glioma that has_material_basis_in oligodendrocytes.
type: ECO_0007637
type: ECO_0007641
has db xref: url:http://www.cancer.gov/dictionary?CdrID=46257

spinal cord disease
type: Class
subclass of: central nervous system disease
has db xref: ICD10CM:G95.9
has db xref: ICD9CM:336.9
has db xref: MESH:D013118
has db xref: NCI:C97110
has db xref: SNOMEDCT_US_2023_03_01:48522003
has db xref: UMLS_CUI:C0037928
has OBO namespace: disease_ontology
has related synonym: myelopathy
id: DOID:319
in subset: NCIthesaurus

neurilemmoma
type: Class
subclass of: neuroma
IAO_0000115: A neuroma that is characterized as a benign nerve sheath tumor that is composed of Schwann cells.
has alternative id: DOID:955
has db xref: ICDO:9560/3
has db xref: MESH:D009442
has db xref: NCI:C3269
has db xref: SNOMEDCT_US_2023_03_01:985004
has db xref: UMLS_CUI:C0027809
has exact synonym: Psammomatous schwannoma
has exact synonym: schwannoma
has OBO namespace: disease_ontology
id: DOID:3192
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: neurilemmoma
annotated property: IAO_0000115
annotated target: A neuroma that is characterized as a benign nerve sheath tumor that is composed of Schwann cells.
has db xref: url:https://en.wikipedia.org/wiki/Schwannoma

cellular schwannoma
type: Class
subclass of: neurilemmoma
IAO_0000115: A neurilemmoma with a predominantly cellular growth but no Verocay bodies.
has db xref: NCI:C4724
has db xref: SNOMEDCT_US_2023_03_01:253086004
has db xref: UMLS_CUI:C0431124
has exact synonym: cellular Neurinoma
has OBO namespace: disease_ontology
id: DOID:3196
in subset: NCIthesaurus

Axiom
annotated source: cellular schwannoma
annotated property: IAO_0000115
annotated target: A neurilemmoma with a predominantly cellular growth but no Verocay bodies.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/2400975

schwannoma of twelfth cranial nerve
type: Class
subclass of: neurilemmoma
IAO_0000115: A neurilemmoma that is located_in the 12th cranial nerve.
has db xref: NCI:C5434
has db xref: UMLS_CUI:C1335928
has exact synonym: Hypoglossal Schwannoma
has OBO namespace: disease_ontology
id: DOID:3197
in subset: NCIthesaurus

Axiom
annotated source: schwannoma of twelfth cranial nerve
annotated property: IAO_0000115
annotated target: A neurilemmoma that is located_in the 12th cranial nerve.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4078147/

hypoglossal nerve neoplasm
type: Class
subclass of: cranial nerve malignant neoplasm
has db xref: NCI:C5830
has db xref: SNOMEDCT_US_2023_03_01:126978008
has db xref: UMLS_CUI:C1263903
has exact synonym: neoplasm of hypoglossal nerve
has exact synonym: tumor of Hypoglossal nerve
has OBO namespace: disease_ontology
id: DOID:3198
in subset: NCIthesaurus

C-P angle neurinoma
type: Class
subclass of: cerebellopontine angle tumor
has db xref: NCI:C5413
has db xref: UMLS_CUI:C1332905
has exact synonym: Cerebellopontine Angle Neurinoma
has OBO namespace: disease_ontology
id: DOID:3199
in subset: NCIthesaurus

cerebellopontine angle tumor
type: Class
subclass of: brain stem cancer
IAO_0000115: A brain stem cancer that is characterized by neoplasms in the fossa located_in cerebellopontine angle.
has db xref: NCI:C5414
has exact synonym: cerebellopontine angle tumour
has exact synonym: neoplasm of the Cerebellopontine Angle
has OBO namespace: disease_ontology
id: DOID:3200
in subset: NCIthesaurus

Axiom
annotated source: cerebellopontine angle tumor
annotated property: IAO_0000115
annotated target: A brain stem cancer that is characterized by neoplasms in the fossa located_in cerebellopontine angle.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Cerebellopontine_angle_syndrome

sympathetic neurilemmoma
type: Class
subclass of: autonomic nervous system neoplasm
has db xref: NCI:C5421
has db xref: UMLS_CUI:C1336543
has OBO namespace: disease_ontology
id: DOID:3201
in subset: NCIthesaurus

neurilemmoma of the fifth cranial nerve
type: Class
subclass of: trigeminal nerve neoplasm
has db xref: NCI:C4655
has db xref: SNOMEDCT_US_2023_03_01:277185000
has db xref: UMLS_CUI:C0349582
has exact synonym: Trigeminal Neurilemmoma
has exact synonym: Trigeminal schwannoma
has OBO namespace: disease_ontology
id: DOID:3202
in subset: NCIthesaurus

macrocystic neurilemmoma
type: Class
subclass of: neurilemmoma
has db xref: NCI:C5321
has db xref: UMLS_CUI:C4054526
has OBO namespace: disease_ontology
id: DOID:3203
in subset: NCIthesaurus

schwannomatosis
type: Class
subclass of: syndrome
IAO_0000115: A RASopathy characterized by the development of schwannomas or hybrid nerve sheath tumors.
has db xref: ICD10CM:Q85.03
has db xref: ICD9CM:237.73
has db xref: ICDO:9560/1
has db xref: MESH:C536641
has db xref: MIM:PS162091
has db xref: NCI:C6557
has db xref: ORDO:93921
has db xref: SNOMEDCT_US_2023_03_01:781641005
has db xref: UMLS_CUI:C1335929
has exact synonym: SWN
has exact synonym: neurilemmomatosis
has exact synonym: neurinomatosis
has OBO namespace: disease_ontology
id: DOID:3204
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus
broad match: ORDO:634518
narrow match: ORDO:634492

Axiom
annotated source: schwannomatosis
annotated property: IAO_0000115
annotated target: A RASopathy characterized by the development of schwannomas or hybrid nerve sheath tumors.
type: ECO_0007645
has db xref: url:https://health.ucdavis.edu/mindinstitute/clinic/genomic-medicine/RASclinic.html
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/35674741/

Axiom
annotated source: schwannomatosis
annotated property: hasExactSynonym
annotated target: SWN
has synonym type: OMO_0003012

melanotic neurilemmoma
type: Class
subclass of: neurilemmoma
has db xref: NCI:C6970
has db xref: SNOMEDCT_US_2023_03_01:253088003
has db xref: UMLS_CUI:C1306247
has exact synonym: Melanotic Schwannoma
has exact synonym: Pigmented Neurilemmoma
has exact synonym: Pigmented schwannoma
has OBO namespace: disease_ontology
id: DOID:3205
in subset: NCIthesaurus

plexiform schwannoma
type: Class
subclass of: neurilemmoma
has db xref: NCI:C6969
has db xref: SNOMEDCT_US_2023_03_01:404025004
has db xref: UMLS_CUI:C1370659
has exact synonym: Plexiform Neurinoma
has exact synonym: Plexiform neurilemmoma
has OBO namespace: disease_ontology
id: DOID:3206
in subset: NCIthesaurus

junctional epidermolysis bullosa
type: Class
subclass of: epidermolysis bullosa
IAO_0000115: An epidermolysis bullosa that is characterized by recurrent blistering located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in genes related to laminin 332, which strengthens the skin.
has db xref: GARD:2152
has db xref: MESH:D016109
has db xref: NCI:C90598
has db xref: SNOMEDCT_US_2023_03_01:76905008
has db xref: UMLS_CUI:C0079301
has exact synonym: congenital junctional epidermolysis bullosa
has OBO namespace: disease_ontology
id: DOID:3209
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: junctional epidermolysis bullosa
annotated property: IAO_0000115
annotated target: An epidermolysis bullosa that is characterized by recurrent blistering located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in genes related to laminin 332, which strengthens the skin.
type: ECO_0007637
has db xref: url:https://ghr.nlm.nih.gov/condition/junctional-epidermolysis-bullosa#genes

HTLV-1-associated myelopathy/tropical spastic paraparesis
type: Class
subclass of: DOID 934
IAO_0000115: A viral infectious disease that results in inflammation located in spinal cord, has_material_basis_in human T-cell leukemia virus type 1 (Deltaretrovirus priTlym1), which is transmitted by sexual contact, and transmitted by breast feeding. The infection has symptom spastic weakness of both legs, has symptom muscle stiffness, has symptom sensory disturbance, and has symptom spasms.
has db xref: ICD10CM:G04.1
has db xref: MESH:D015493
has db xref: MIM:159580
has db xref: NCI:C179058
has db xref: SNOMEDCT_US_2023_03_01:45129002
has db xref: UMLS_CUI:C0030481
has exact synonym: HAM/TSP
has exact synonym: HTLV-associated myelopathy
has exact synonym: Tropical spastic paralysis
has exact synonym: Tropical spastic paraplegia
has exact synonym: tropical spastic paraparesis
has OBO namespace: disease_ontology
id: DOID:321
in subset: DO infectious disease slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: HTLV-1-associated myelopathy/tropical spastic paraparesis
annotated property: IAO_0000115
annotated target: A viral infectious disease that results in inflammation located in spinal cord, has_material_basis_in human T-cell leukemia virus type 1 (Deltaretrovirus priTlym1), which is transmitted by sexual contact, and transmitted by breast feeding. The infection has symptom spastic weakness of both legs, has symptom muscle stiffness, has symptom sensory disturbance, and has symptom spasms.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Tropical_spastic_paraparesis
has db xref: url:https://www.merckmanuals.com/professional/neurologic-disorders/spinal-cord-disorders/htlv-1-associated-myelopathy-tropical-spastic-paraparesis-ham-tsp
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK560825/
has db xref: url:https://www.ninds.nih.gov/health-information/disorders/htlv-1-associated-myelopathy-hamtropical-spastic-paraparesis-tsp

Axiom
annotated source: HTLV-1-associated myelopathy/tropical spastic paraparesis
annotated property: hasExactSynonym
annotated target: HAM/TSP
has synonym type: OMO_0003012

Pelizaeus-Merzbacher disease
type: Class
subclass of: leukodystrophy
IAO_0000115: A hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.
has db xref: GARD:4265
has db xref: MESH:D020371
has db xref: MIM:312080
has db xref: NCI:C75487
has db xref: ORDO:702
has db xref: SNOMEDCT_US_2023_03_01:64855000
has db xref: UMLS_CUI:C0205711
has exact synonym: HLD1
has exact synonym: Leukodystrophy, sudanophilic
has exact synonym: PMD
has exact synonym: Pelizaeus Merzbacher brain sclerosis
has exact synonym: Pelizaeus-Merzbacher brain sclerosis
has exact synonym: diffuse familial brain sclerosis
has exact synonym: hypomyelinating leukodystrophy 1
has exact synonym: sudanophilic leukodystrophy, Paelizeus-Merzbacher type
has OBO namespace: disease_ontology
id: DOID:3210
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Pelizaeus-Merzbacher disease
annotated property: IAO_0000115
annotated target: A hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.
type: ECO_0007645
type: ECO_0007646
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK560522/
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/15627202
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/2773936
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/3476455

Axiom
annotated source: Pelizaeus-Merzbacher disease
annotated property: hasExactSynonym
annotated target: HLD1
has synonym type: OMO_0003012

Axiom
annotated source: Pelizaeus-Merzbacher disease
annotated property: hasExactSynonym
annotated target: PMD
has synonym type: OMO_0003012

lysosomal storage disease
type: Class
subclass of: DOID 655
IAO_0000115: An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.
has db xref: MESH:D016464
has db xref: NCI:C61250
has db xref: SNOMEDCT_US_2023_03_01:23585005
has db xref: UMLS_CUI:C0085078
has exact synonym: disorder of lysosomal enzyme
has exact synonym: inborn lysosomal enzyme disorder
has exact synonym: lysosomal storage metabolism disorder
has OBO namespace: disease_ontology
id: DOID:3211
in subset: DO FlyBase slim
in subset: NCIthesaurus

Axiom
annotated source: lysosomal storage disease
annotated property: IAO_0000115
annotated target: An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Lysosomal_storage_disease

demyelinating disease
type: Class
subclass of: central nervous system disease
IAO_0000115: A central nervous system disease that is characterized by damage to the myelin sheath present around nerve axons.
has db xref: MESH:D003711
has db xref: NCI:C34527
has db xref: UMLS_CUI:C0011303
has exact synonym: demyelinating disorder
has OBO namespace: disease_ontology
id: DOID:3213
in subset: NCIthesaurus

Axiom
annotated source: demyelinating disease
annotated property: IAO_0000115
annotated target: A central nervous system disease that is characterized by damage to the myelin sheath present around nerve axons.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/17071802

jejunal somatostatinoma
type: Class
subclass of: jejunal cancer
has db xref: NCI:C5787
has db xref: UMLS_CUI:C1334297
has exact synonym: Somatosatinoma of Jejunum
has exact synonym: jejunal delta cell somatostatin producing tumor
has OBO namespace: disease_ontology
id: DOID:3216
in subset: NCIthesaurus

jejunal neoplasm
type: Class
subclass of: DOID 7505
has db xref: MESH:D007580
has db xref: NCI:C8401
has db xref: SNOMEDCT_US_2023_03_01:254575004
has db xref: UMLS_CUI:C0022374
has exact synonym: Jejunal tumor
has exact synonym: neoplasm of jejunum
has exact synonym: tumor of jejunum
has OBO namespace: disease_ontology
id: DOID:3218
in subset: NCIthesaurus

myelitis
type: Class
subclass of: spinal cord disease
IAO_0000115: A spinal cord disease that is characterized by inflammation of the white matter or gray matter of the spinal cord.
has db xref: GARD:7130
has db xref: MESH:D009187
has db xref: NCI:C26832
has db xref: SNOMEDCT_US_2023_03_01:192682002
has db xref: UMLS_CUI:C0026975
has OBO namespace: disease_ontology
id: DOID:322
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: myelitis
annotated property: IAO_0000115
annotated target: A spinal cord disease that is characterized by inflammation of the white matter or gray matter of the spinal cord.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Myelitis

causalgia
type: Class
subclass of: DOID 574
has db xref: MESH:D002422
has db xref: NCI:C121572
has db xref: SNOMEDCT_US_2023_03_01:247397004
has db xref: UMLS_CUI:C0007462
has exact synonym: Complex regional pain syndrome, type II
has OBO namespace: disease_ontology
id: DOID:3222
in subset: NCIthesaurus

tracheal disease
type: Class
subclass of: disease
has db xref: ICD10CM:S12.8
has db xref: MESH:D014133
has db xref: NCI:C35079
has db xref: SNOMEDCT_US_2023_03_01:47125007
has db xref: UMLS_CUI:C0040580
has OBO namespace: disease_ontology
id: DOID:3225
in subset: NCIthesaurus

tracheal stenosis
type: Class
subclass of: tracheal disease
has db xref: MESH:D014135
has db xref: NCI:C78646
has db xref: SNOMEDCT_US_2023_03_01:11296007
has db xref: UMLS_CUI:C0040583
has exact synonym: Stenosis of trachea
has OBO namespace: disease_ontology
id: DOID:3227
in subset: NCIthesaurus

central nervous system lymphoma
type: Class
subclass of: central nervous system cancer
IAO_0000115: A hematologic cancer that has_material_basis_in lymphoma located_in central nervous system.
has alternative id: DOID:3233
has db xref: ICD9CM:200.5
has db xref: NCI:C9301
has db xref: SNOMEDCT_US_2023_03_01:69110006
has db xref: UMLS_CUI:C0280803
has exact synonym: Microglioma
has exact synonym: primary CNS lymphoma
has OBO namespace: disease_ontology
id: DOID:3234
in subset: NCIthesaurus

Axiom
annotated source: central nervous system lymphoma
annotated property: IAO_0000115
annotated target: A hematologic cancer that has_material_basis_in lymphoma located_in central nervous system.
has db xref: url:https://www.lls.org/lymphoma/non-hodgkin-lymphoma/treatment/treatment-for-aggressive-nhl-subtypes/central-nervous-system-cns-lymphoma

embryonal rhabdomyosarcoma
type: Class
subclass of: rhabdomyosarcoma
IAO_0000115: A rhabdomyosarcoma wherein the mesenchymally-derived malignant cells resemble the primitive developing skeletal muscle of the embryo; it occurs most often in the head and neck area or in the genital or urinary organs.
has db xref: GARD:4702
has db xref: ICDO:8910/3
has db xref: MESH:D018233
has db xref: MIM:268210
has db xref: NCI:C8971
has db xref: ORDO:99757
has db xref: SNOMEDCT_US_2023_03_01:404051002
has db xref: UMLS_CUI:C0206656
has OBO namespace: disease_ontology
id: DOID:3246
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: embryonal rhabdomyosarcoma
annotated property: IAO_0000115
annotated target: A rhabdomyosarcoma wherein the mesenchymally-derived malignant cells resemble the primitive developing skeletal muscle of the embryo; it occurs most often in the head and neck area or in the genital or urinary organs.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Embryonal_rhabdomyosarcoma
has db xref: url:http://www.cancer.gov/cancertopics/pdq/treatment/childrhabdomyosarcoma/Patient/page1

rhabdomyosarcoma
type: Class
subclass of: skeletal muscle cancer
IAO_0000115: A skeletal muscle cancer that arise from skeletal muscle progenitors.
has db xref: ICDO:8900/3
has db xref: MESH:D012208
has db xref: NCI:C3359
has db xref: SNOMEDCT_US_2023_03_01:302847003
has db xref: UMLS_CUI:C0035412
has OBO namespace: disease_ontology
id: DOID:3247
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: rhabdomyosarcoma
annotated property: IAO_0000115
annotated target: A skeletal muscle cancer that arise from skeletal muscle progenitors.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Rhabdomyosarcoma
has db xref: url:https://pmc.ncbi.nlm.nih.gov/articles/PMC9425116/

pleomorphic rhabdomyosarcoma
type: Class
subclass of: rhabdomyosarcoma
has db xref: ICDO:8901/3
has db xref: NCI:C4258
has db xref: SNOMEDCT_US_2023_03_01:404054005
has db xref: UMLS_CUI:C0334480
has exact synonym: Pleomorphic rhabdomyosarcoma, adult type
has exact synonym: anaplastic Rhabdomyosarcoma
has OBO namespace: disease_ontology
id: DOID:3250
in subset: DO cancer slim
in subset: NCIthesaurus

prostate embryonal rhabdomyosarcoma
type: Class
subclass of: prostate rhabdomyosarcoma
IAO_0000115: A prostate rhabdomyosarcoma that is most common in children and that is characterized by a high degree of malignancy, both local rapid growth with formation of large pelvic masses, often leading to renal failure due to urethral obstruction, and systemic spread, commonly to the lungs, liver and bone.
has db xref: NCI:C5525
has db xref: UMLS_CUI:C1335508
has exact synonym: Embryonal Rhabdomyosarcoma of the prostate
has OBO namespace: disease_ontology
id: DOID:3251
in subset: NCIthesaurus

Axiom
annotated source: prostate embryonal rhabdomyosarcoma
annotated property: IAO_0000115
annotated target: A prostate rhabdomyosarcoma that is most common in children and that is characterized by a high degree of malignancy, both local rapid growth with formation of large pelvic masses, often leading to renal failure due to urethral obstruction, and systemic spread, commonly to the lungs, liver and bone.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3863144/

prostate rhabdomyosarcoma
type: Class
subclass of: prostate sarcoma
IAO_0000115: A rhabdomyosarcoma and sarcoma of prostate that is located_in the prostate.
has db xref: NCI:C5522
has db xref: UMLS_CUI:C1335518
has exact synonym: Rhabdomyosarcoma of the prostate
has OBO namespace: disease_ontology
id: DOID:3252
in subset: NCIthesaurus

Axiom
annotated source: prostate rhabdomyosarcoma
annotated property: IAO_0000115
annotated target: A rhabdomyosarcoma and sarcoma of prostate that is located_in the prostate.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/26776454
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/29468476

embryonal extrahepatic bile duct rhabdomyosarcoma
type: Class
subclass of: bile duct rhabdomyosarcoma
has db xref: NCI:C5847
has db xref: UMLS_CUI:C1333505
has OBO namespace: disease_ontology
id: DOID:3253
in subset: NCIthesaurus

bile duct rhabdomyosarcoma
type: Class
subclass of: rhabdomyosarcoma
IAO_0000115: A rhabdomyosarcoma and sarcoma of bile duct that is located_in the bile duct.
has db xref: NCI:C5860
has db xref: UMLS_CUI:C2064434
has exact synonym: rhabdomyosarcoma of the bile duct
has OBO namespace: disease_ontology
id: DOID:3254
in subset: NCIthesaurus

Axiom
annotated source: bile duct rhabdomyosarcoma
annotated property: IAO_0000115
annotated target: A rhabdomyosarcoma and sarcoma of bile duct that is located_in the bile duct.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Rhabdomyosarcoma

botryoid rhabdomyosarcoma
type: Class
subclass of: embryonal rhabdomyosarcoma
has db xref: NCI:C9150
has db xref: SNOMEDCT_US_2023_03_01:14269005
has db xref: UMLS_CUI:C1306573
has exact synonym: Botryoid sarcoma
has exact synonym: Botryoid-type Embryonal Rhabdomyosarcoma
has exact synonym: sarcoma botryoides
has OBO namespace: disease_ontology
id: DOID:3255
in subset: NCIthesaurus

orbit embryonal rhabdomyosarcoma
type: Class
subclass of: orbit rhabdomyosarcoma
IAO_0000115: An orbit rhabdomyosarcoma that is characterized by elongated to round spindle cells with features of skeletal muscle in different stages of embryogenesis with a highly eosiniphilic cytoplasm and hyperchromatic nuclei.
has db xref: NCI:C6246
has db xref: UMLS_CUI:C1335127
has exact synonym: Embryonal Rhabdomyosarcoma of the orbit
has OBO namespace: disease_ontology
id: DOID:3258
in subset: NCIthesaurus

Axiom
annotated source: orbit embryonal rhabdomyosarcoma
annotated property: IAO_0000115
annotated target: An orbit rhabdomyosarcoma that is characterized by elongated to round spindle cells with features of skeletal muscle in different stages of embryogenesis with a highly eosiniphilic cytoplasm and hyperchromatic nuclei.
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3770217/

orbit rhabdomyosarcoma
type: Class
subclass of: DOID 9987
IAO_0000115: An orbit sarcoma that is that arises from primitive pleuripotential mesenchymal cells that possess the ability to differentiate into striated muscle, most often in young children.
has db xref: MESH:C537605
has db xref: NCI:C4543
has db xref: SNOMEDCT_US_2023_03_01:254994000
has db xref: UMLS_CUI:C0346347
has exact synonym: Rhabdomyosarcoma of orbit
has exact synonym: Rhabdomyosarcoma of the orbit
has OBO namespace: disease_ontology
id: DOID:3259
in subset: NCIthesaurus

Axiom
annotated source: orbit rhabdomyosarcoma
annotated property: IAO_0000115
annotated target: An orbit sarcoma that is that arises from primitive pleuripotential mesenchymal cells that possess the ability to differentiate into striated muscle, most often in young children.
has db xref: url:https://eyewiki.aao.org/Orbital_Rhabdomyosarcoma
has db xref: url:https://link.springer.com/chapter/10.1007/978-1-4613-2029-6_14
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3770217/

ischemia
type: Class
subclass of: vascular disease
IAO_0000115: A vascular disease that is characterized by a restriction in blood supply to tissues.
has db xref: MESH:D007511
has db xref: NCI:C34738
has db xref: SNOMEDCT_US_2023_03_01:52674009
has db xref: UMLS_CUI:C0022116
has OBO namespace: disease_ontology
id: DOID:326
in subset: NCIthesaurus

Axiom
annotated source: ischemia
annotated property: IAO_0000115
annotated target: A vascular disease that is characterized by a restriction in blood supply to tissues.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Ischemia

spindle cell rhabdomyosarcoma
type: Class
subclass of: rhabdomyosarcoma
IAO_0000115: A rhabdomyosarcoma that is characterized by the presence of whorls of spindle cells forming a storiform pattern. In children it usually arises in the paratesticular region. In adults it usually arises from the deep soft tissues in the head and neck.
has db xref: ICDO:8912/3
has db xref: NCI:C6519
has db xref: SNOMEDCT_US_2023_03_01:404055006
has db xref: UMLS_CUI:C1266134
has exact synonym: Sclerosing rhabdomyosarcoma
has exact synonym: Spindle Cell/Sclerosing Rhabdomyosarcoma
has exact synonym: Synonym Rhabdomyosarcoma, spindle cell/sclerosing type
has OBO namespace: disease_ontology
id: DOID:3260
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: spindle cell rhabdomyosarcoma
annotated property: IAO_0000115
annotated target: A rhabdomyosarcoma that is characterized by the presence of whorls of spindle cells forming a storiform pattern. In children it usually arises in the paratesticular region. In adults it usually arises from the deep soft tissues in the head and neck.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/34958505/

autosomal dominant hyper-IgE syndrome 1 with recurrent infections
type: Class
subclass of: hyperimmunoglobulin syndrome
IAO_0000115: A hyper IgE syndrome that has_material_basis_in heterozygous mutation in the STAT3 gene on chromosome 17q21.
has db xref: GARD:6800
has db xref: MESH:D007589
has db xref: MIM:147060
has db xref: NCI:C126342
has db xref: NCI:C126343
has db xref: ORDO:2314
has db xref: UMLS_CUI:C1968689
has db xref: UMLS_CUI:C2936739
has exact synonym: Job syndrome
has exact synonym: Job's syndrome
has exact synonym: STAT3 Hyper IgE syndrome
has exact synonym: hyper IgE recurrent infection syndrome 1
has exact synonym: hyperimmunoglobulin E syndrome
has OBO namespace: disease_ontology
id: DOID:3261
in subset: DO rare slim
in subset: NCIthesaurus
comment: nomenclature update Oct 2024 [LS]. nomenclature update Nov 2025 [claudiasbj].

Axiom
annotated source: autosomal dominant hyper-IgE syndrome 1 with recurrent infections
annotated property: IAO_0000115
annotated target: A hyper IgE syndrome that has_material_basis_in heterozygous mutation in the STAT3 gene on chromosome 17q21.
type: ECO_0007646
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK25507/
has db xref: url:https://www.niaid.nih.gov/diseases-conditions/stat3-dominant-negative-disease

piebaldism
type: Class
subclass of: disease
IAO_0000115: An integumentary system disease characterized by congenital absence of melanocytes in areas of the skin and hair that has_material_basis_in heterozygous mutation in the KIT gene on chromosome 4q12.
has db xref: GARD:4344
has db xref: ICD10CM:E70.39
has db xref: MESH:D016116
has db xref: MIM:172800
has db xref: NCI:C85009
has db xref: ORDO:2884
has db xref: SNOMEDCT_US_2023_03_01:718122005
has db xref: UMLS_CUI:C0080024
has exact synonym: PIEBALD TRAIT
has exact synonym: Partial albinism
has OBO namespace: disease_ontology
id: DOID:3263
in subset: DO rare slim
in subset: NCIthesaurus
comment: This disease previously was thought to also have material basis in the SNAI2 gene but that gene likely does not contribute to this disease (see PMID:32975012).

Axiom
annotated source: piebaldism
annotated property: IAO_0000115
annotated target: An integumentary system disease characterized by congenital absence of melanocytes in areas of the skin and hair that has_material_basis_in heterozygous mutation in the KIT gene on chromosome 4q12.
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/32975012/
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/15485525
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/1717985

chronic granulomatous disease
type: Class
subclass of: DOID 612
IAO_0000115: A phagocyte bactericidal dysfunction characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, liver, lymph nodes, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed.
has db xref: GARD:6100
has db xref: ICD10CM:D71
has db xref: MESH:D006105
has db xref: MIM:PS306400
has db xref: NCI:C26788
has db xref: ORDO:379
has db xref: SNOMEDCT_US_2023_03_01:11210002
has db xref: UMLS_CUI:C0018203
has exact synonym: Bridges-Good syndrome
has exact synonym: CGD
has exact synonym: Congenital dysphagocytosis
has exact synonym: Quie syndrome
has OBO namespace: disease_ontology
id: DOID:3265
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: chronic granulomatous disease
annotated property: IAO_0000115
annotated target: A phagocyte bactericidal dysfunction characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, liver, lymph nodes, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007638
type: ECO_0007646
has db xref: url:http://en.wikipedia.org/wiki/Chronic_granulomatous_disease
has db xref: url:https://medlineplus.gov/genetics/condition/chronic-granulomatous-disease/
has db xref: url:https://rarediseases.org/rare-diseases/chronic-granulomatous-disease/
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK99496/

Axiom
annotated source: chronic granulomatous disease
annotated property: hasExactSynonym
annotated target: CGD
has synonym type: OMO_0003012

mucinous ovarian cystadenoma
type: Class
subclass of: ovarian cystadenoma
IAO_0000115: An ovarian cystadenoma that is characterized by the presence of mucin.
has db xref: NCI:C4512
has db xref: SNOMEDCT_US_2023_03_01:119422004
has db xref: UMLS_CUI:C0346172
has exact synonym: Ovarian mucinous Cystadenoma
has exact synonym: mucinous cystadenoma of ovary
has OBO namespace: disease_ontology
id: DOID:3267
in subset: NCIthesaurus

Axiom
annotated source: mucinous ovarian cystadenoma
annotated property: IAO_0000115
annotated target: An ovarian cystadenoma that is characterized by the presence of mucin.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/22476372

ovarian cystadenoma
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: An ovarian benign neoplasm that has_material_basis_in glandular epithelial tissue in which cystic accumulations of retained secretions are formed.
has db xref: NCI:C4060
has db xref: SNOMEDCT_US_2023_03_01:198297004
has db xref: UMLS_CUI:C0346169
has exact synonym: Cystoma Serosum simplex
has exact synonym: simple cystoma of ovary
has exact synonym: simple cystoma of the ovary
has OBO namespace: disease_ontology
id: DOID:3269
in subset: NCIthesaurus

Axiom
annotated source: ovarian cystadenoma
annotated property: IAO_0000115
annotated target: An ovarian benign neoplasm that has_material_basis_in glandular epithelial tissue in which cystic accumulations of retained secretions are formed.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/27244785

syringomyelia
type: Class
subclass of: spinal cord disease
has db xref: GARD:7725
has db xref: MESH:D013595
has db xref: MIM:186700
has db xref: NCI:C85179
has db xref: ORDO:3280
has db xref: SNOMEDCT_US_2023_03_01:155020007
has db xref: UMLS_CUI:C0039144
has OBO namespace: disease_ontology
id: DOID:327
in subset: DO rare slim
in subset: NCIthesaurus

proliferative type fibrocystic change of breast
type: Class
subclass of: breast fibrocystic disease
IAO_0000115: A breast fibrocystic disease that is characterized by the presence of epithelial cell hyperplasia and the absence of epithelial atypia.
has alternative id: DOID:8101
has alternative id: DOID:8112
has db xref: NCI:C8365
has db xref: SNOMEDCT_US_2023_03_01:35813005
has db xref: UMLS_CUI:C0334056
has exact synonym: Fibrocystic change, proliferative type with atypia
has exact synonym: Fibrocystic disease, Proliferative type with Atypia
has exact synonym: Proliferating Lesion of breast without Atypia
has exact synonym: Proliferating Lesion of the breast without Atypia
has exact synonym: Proliferative Fibrocystic Change
has OBO namespace: disease_ontology
id: DOID:3274
in subset: NCIthesaurus

Axiom
annotated source: proliferative type fibrocystic change of breast
annotated property: IAO_0000115
annotated target: A breast fibrocystic disease that is characterized by the presence of epithelial cell hyperplasia and the absence of epithelial atypia.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/34967547/

thymoma
type: Class
subclass of: thymus cancer
IAO_0000115: A thymus cancer that derives_from epithelial cells located_in the thymus. The tumor cells in a thymoma look similar to the normal cells of the thymus, grow slowly, and rarely spread beyond the thymus.
has db xref: ICDO:8580/3
has db xref: MESH:D013945
has db xref: NCI:C3411
has db xref: SNOMEDCT_US_2023_03_01:444231005
has db xref: UMLS_CUI:C0040100
has OBO namespace: disease_ontology
id: DOID:3275
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: thymoma
annotated property: IAO_0000115
annotated target: A thymus cancer that derives_from epithelial cells located_in the thymus. The tumor cells in a thymoma look similar to the normal cells of the thymus, grow slowly, and rarely spread beyond the thymus.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://cancergenome.nih.gov/cancersselected/Thymoma
has db xref: url:http://en.wikipedia.org/wiki/Thymoma
has db xref: url:http://www.cancer.gov/cancertopics/pdq/treatment/thymoma/patient/page1

thymus cancer
type: Class
subclass of: cancer
IAO_0000115: An immune system cancer located_in the thymus.
has alternative id: DOID:10143
has db xref: ICD10CM:C37
has db xref: ICD9CM:164.0
has db xref: MESH:D013953
has db xref: NCI:C4962
has db xref: SNOMEDCT_US_2023_03_01:94096009
has db xref: UMLS_CUI:C0751552
has exact synonym: Thymic tumor
has exact synonym: neoplasm of thymus
has exact synonym: thymic neoplasm
has OBO namespace: disease_ontology
id: DOID:3277
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim

Axiom
annotated source: thymus cancer
annotated property: IAO_0000115
annotated target: An immune system cancer located_in the thymus.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Thymus

encapsulated thymoma
type: Class
subclass of: thymoma
has db xref: NCI:C7386
has db xref: UMLS_CUI:C1333383
has OBO namespace: disease_ontology
id: DOID:3278
in subset: NCIthesaurus

spindle cell thymoma
type: Class
subclass of: thymoma
has db xref: NCI:C6454
has db xref: SNOMEDCT_US_2023_03_01:1144928005
has db xref: UMLS_CUI:C1266091
has exact synonym: Medullary Thymoma
has exact synonym: Thymoma, medullary
has OBO namespace: disease_ontology
id: DOID:3279
in subset: NCIthesaurus

mixed type thymoma
type: Class
subclass of: thymoma
has db xref: NCI:C6885
has db xref: SNOMEDCT_US_2023_03_01:1144922006
has db xref: UMLS_CUI:C1266092
has exact synonym: Thymoma, mixed type
has OBO namespace: disease_ontology
id: DOID:3280
in subset: NCIthesaurus

thymoma type B
type: Class
subclass of: thymoma
IAO_0000115: A thymoma that is an epithelial neoplasm arising from the thymus. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia.
has db xref: NCI:C7114
has db xref: ORDO:263317
has db xref: SNOMEDCT_US_2023_03_01:1144924007
has db xref: UMLS_CUI:C1328042
has exact synonym: dendritic cell thymoma
has exact synonym: epithelioid Thymoma
has OBO namespace: disease_ontology
id: DOID:3282
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: thymoma type B
annotated property: IAO_0000115
annotated target: A thymoma that is an epithelial neoplasm arising from the thymus. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia.
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9964105/

invasive malignant thymoma
type: Class
subclass of: thymoma
has db xref: NCI:C6453
has db xref: UMLS_CUI:C0278846
has exact synonym: Infiltrating Thymoma
has exact synonym: Thymoma malignant Invasive
has OBO namespace: disease_ontology
id: DOID:3283
in subset: NCIthesaurus

thymic carcinoma
type: Class
subclass of: thymus cancer
IAO_0000115: A thymus cancer that derives_from epithelial cells. The tumor cells in a thymic carcinoma look very different from the normal cells of the thymus, grow more quickly, and have usually spread to other parts of the body when the cancer is found.
has db xref: ICDO:8586/3
has db xref: MESH:D013945
has db xref: NCI:C7569
has db xref: SNOMEDCT_US_2023_03_01:128717008
has db xref: UMLS_CUI:C0205969
has exact synonym: Thymoma, malignant
has exact synonym: malignant Thymoma
has OBO namespace: disease_ontology
id: DOID:3284
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: thymic carcinoma
annotated property: IAO_0000115
annotated target: A thymus cancer that derives_from epithelial cells. The tumor cells in a thymic carcinoma look very different from the normal cells of the thymus, grow more quickly, and have usually spread to other parts of the body when the cancer is found.
type: ECO_0007637
has db xref: url:http://www.cancer.gov/cancertopics/pdq/treatment/thymoma/patient/page1

mpox
type: Class
subclass of: DOID 934
IAO_0000115: A viral infectious disease that results in infection of primates, rodents and humans, located in skin, has_material_basis_in Monkeypox virus (Orthopoxvirus monkeypox), which is transmitted by contact with the animal's blood, body fluids, rash, or with the body fluids of a sick person, transmitted by fomites, and transmitted by respiratory droplets. The infection has symptom fever, has symptom muscle ache, has symptom headache, and has symptom lymphadenopathy.
has db xref: GARD:10722
has db xref: ICD10CM:B04
has db xref: ICD9CM:059.01
has db xref: MESH:D045908
has db xref: NCI:C128421
has db xref: SNOMEDCT_US_2023_03_01:240466002
has db xref: UMLS_CUI:C0276180
has exact synonym: monkeypox
has OBO namespace: disease_ontology
id: DOID:3292
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus
in subset: zoonotic infectious disease
comment: November 2022 WHO name update.
broad match: ORDO:438279

Axiom
annotated source: mpox
annotated property: IAO_0000115
annotated target: A viral infectious disease that results in infection of primates, rodents and humans, located in skin, has_material_basis_in Monkeypox virus (Orthopoxvirus monkeypox), which is transmitted by contact with the animal's blood, body fluids, rash, or with the body fluids of a sick person, transmitted by fomites, and transmitted by respiratory droplets. The infection has symptom fever, has symptom muscle ache, has symptom headache, and has symptom lymphadenopathy.
type: ECO_0007637
has db xref: url:http://www.cdc.gov/ncidod/monkeypox/factsheet2.htm
has db xref: url:https://www.who.int/news/item/28-11-2022-who-recommends-new-name-for-monkeypox-disease

gonadoblastoma
type: Class
subclass of: disease
IAO_0000115: A cell type benign neoplasm that is composed_of a mixture of gonadal elements, such as large primordial germ cells, immature Sertoli cells or granulosa cells of the sex cord, and gonadal stromal cells (which comprises the granulosa, theca, and fibrocyte cells).
has db xref: ICDO:9073/1
has db xref: MESH:D018238
has db xref: MIM:424500
has db xref: NCI:C3754
has db xref: SNOMEDCT_US_2023_03_01:74751003
has db xref: UMLS_CUI:C0206661
has OBO namespace: disease_ontology
id: DOID:3301
in subset: DO cancer slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: gonadoblastoma
annotated property: IAO_0000115
annotated target: A cell type benign neoplasm that is composed_of a mixture of gonadal elements, such as large primordial germ cells, immature Sertoli cells or granulosa cells of the sex cord, and gonadal stromal cells (which comprises the granulosa, theca, and fibrocyte cells).
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Gonadoblastoma

chordoma
type: Class
subclass of: notochordal cancer
IAO_0000115: A notochordal cancer that derives_from cellular remnants of the notochord.
has db xref: GARD:1303
has db xref: ICDO:9370/3
has db xref: MESH:D002817
has db xref: NCI:C2947
has db xref: SNOMEDCT_US_2023_03_01:50007008
has db xref: UMLS_CUI:C0008487
has exact synonym: notochordoma
has OBO namespace: disease_ontology
id: DOID:3302
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: chordoma
annotated property: IAO_0000115
annotated target: A notochordal cancer that derives_from cellular remnants of the notochord.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Chordoma

notochordal cancer
type: Class
subclass of: bone cancer
IAO_0000115: An embryonal cancer and bone cancer and mesenchymal cell neoplasm that is located_in the notochord.
has db xref: NCI:C7063
has db xref: UMLS_CUI:C1335069
has OBO namespace: disease_ontology
has related synonym: notochordal tumor
id: DOID:3303
in subset: NCIthesaurus

Axiom
annotated source: notochordal cancer
annotated property: IAO_0000115
annotated target: An embryonal cancer and bone cancer and mesenchymal cell neoplasm that is located_in the notochord.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Notochord

teratocarcinoma
type: Class
subclass of: germ cell cancer
IAO_0000115: A mixed germ cell tumor that is a mixture of teratoma with embryonal carcinoma, or with choriocarcinoma, or with both.
has db xref: ICDO:9081/3
has db xref: MESH:D018243
has db xref: NCI:C3756
has db xref: SNOMEDCT_US_2023_03_01:67830002
has db xref: UMLS_CUI:C0206664
has exact synonym: mixed Embryonal carcinoma and teratoma
has OBO namespace: disease_ontology
id: DOID:3305
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: teratocarcinoma
annotated property: IAO_0000115
annotated target: A mixed germ cell tumor that is a mixture of teratoma with embryonal carcinoma, or with choriocarcinoma, or with both.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed

mixed germ cell cancer
type: Class
subclass of: germ cell cancer
IAO_0000115: A germ cell cancer that occurs in many forms.
has db xref: ICDO:9085/3
has db xref: NCI:C4290
has db xref: SNOMEDCT_US_2023_03_01:189853002
has db xref: UMLS_CUI:C0334524
has exact synonym: mixed germ cell neoplasm
has exact synonym: mixed germ cell tumor
has exact synonym: mixed germ cell tumour
has exact synonym: mixed teratoma and seminoma
has OBO namespace: disease_ontology
id: DOID:3306
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: mixed germ cell cancer
annotated property: IAO_0000115
annotated target: A germ cell cancer that occurs in many forms.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed

teratoma
type: Class
subclass of: germ cell cancer
IAO_0000115: A germ cell and embryonal cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers.
has db xref: ICDO:9080/3
has db xref: MESH:D013724
has db xref: NCI:C3403
has db xref: SNOMEDCT_US_2023_03_01:36591000119102
has db xref: UMLS_CUI:C0039538
has OBO namespace: disease_ontology
id: DOID:3307
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: teratoma
annotated property: IAO_0000115
annotated target: A germ cell and embryonal cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Teratoma

embryonal carcinoma
type: Class
subclass of: DOID 688
IAO_0000115: An embryonal cancer that is a type of germ cell tumour that is located_in the ovaries or located_in the testes.
has alternative id: DOID:5676
has db xref: GARD:5140
has db xref: ICDO:9070/3
has db xref: MESH:D018236
has db xref: NCI:C3752
has db xref: NCI:C8880
has db xref: SNOMEDCT_US_2023_03_01:1156454002
has db xref: UMLS_CUI:C0206659
has db xref: UMLS_CUI:C0855159
has exact synonym: primary extragonadal embryonal carcinoma
has OBO namespace: disease_ontology
id: DOID:3308
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: embryonal carcinoma
annotated property: IAO_0000115
annotated target: An embryonal cancer that is a type of germ cell tumour that is located_in the ovaries or located_in the testes.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Embryonal_carcinoma

neurodermatitis
type: Class
subclass of: dermatitis
IAO_0000115: A dermatitis that is characterized by chronic itching or scaling.
has db xref: MESH:D009450
has db xref: NCI:C111963
has db xref: SNOMEDCT_US_2023_03_01:156383005
has db xref: UMLS_CUI:C0027822
has OBO namespace: disease_ontology
id: DOID:3309
in subset: NCIthesaurus

Axiom
annotated source: neurodermatitis
annotated property: IAO_0000115
annotated target: A dermatitis that is characterized by chronic itching or scaling.
has db xref: url:https://www.mayoclinic.org/diseases-conditions/neurodermatitis/symptoms-causes/syc-20375634

central nervous system disease
type: Class
subclass of: DOID 863
IAO_0000115: A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system.
has db xref: ICD10CM:G96.9
has db xref: MESH:D002493
has db xref: NCI:C2934
has db xref: SNOMEDCT_US_2023_03_01:267144009
has db xref: UMLS_CUI:C0007682
has OBO namespace: disease_ontology
id: DOID:331
in subset: DO AGR slim
in subset: DO CFDE slim
in subset: DO GXD slim
in subset: NCIthesaurus

Axiom
annotated source: central nervous system disease
annotated property: IAO_0000115
annotated target: A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Central_nervous_system_disease

bipolar disorder
type: Class
subclass of: mood disorder
IAO_0000115: A mood disorder that involves alternating periods of mania and depression.
has alternative id: DOID:3311
has alternative id: DOID:9554
has alternative id: DOID:9555
has db xref: GARD:10249
has db xref: ICD10CM:F31
has db xref: ICD9CM:296.40
has db xref: ICD9CM:296.60
has db xref: ICD9CM:296.80
has db xref: MESH:D001714
has db xref: NCI:C34423
has db xref: NCI:C34424
has db xref: NCI:C34805
has db xref: SNOMEDCT_US_2023_03_01:16506000
has db xref: SNOMEDCT_US_2023_03_01:191627008
has db xref: SNOMEDCT_US_2023_03_01:192355004
has db xref: SNOMEDCT_US_2023_03_01:68569003
has db xref: UMLS_CUI:C0005586
has db xref: UMLS_CUI:C0005587
has db xref: UMLS_CUI:C0024713
has db xref: UMLS_CUI:C0236780
has exact synonym: Manic Bipolar Affective disorder
has exact synonym: Manic Depressive disorder
has exact synonym: Manic bipolar I disorder
has exact synonym: bipolar depression
has exact synonym: bipolar disorder manic phase
has exact synonym: manic depression
has exact synonym: manic disorder
has exact synonym: mixed bipolar disorder
has OBO namespace: disease_ontology
has related synonym: Depressive-manic psych.
id: DOID:3312
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: bipolar disorder
annotated property: IAO_0000115
annotated target: A mood disorder that involves alternating periods of mania and depression.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Mood_disorder

angiomyolipoma
type: Class
subclass of: disease
IAO_0000115: A cell type benign neoplasm that is primarily located in the kidneys but may be found in the lungs, liver or other organs and is derived from perivascular epithelioid cells.
has db xref: ICDO:8860/0
has db xref: MESH:D018207
has db xref: NCI:C3734
has db xref: SNOMEDCT_US_2023_03_01:19929002
has db xref: UMLS_CUI:C0206633
has OBO namespace: disease_ontology
id: DOID:3314
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: angiomyolipoma
annotated property: IAO_0000115
annotated target: A cell type benign neoplasm that is primarily located in the kidneys but may be found in the lungs, liver or other organs and is derived from perivascular epithelioid cells.
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/Angiomyolipoma
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/9503504

lipoma
type: Class
subclass of: disease
IAO_0000115: A cell type benign neoplasm that is composed of lipocytes.
has alternative id: DOID:3154
has alternative id: DOID:9291
has db xref: ICD10CM:D17
has db xref: ICD10CM:D17.9
has db xref: ICD9CM:214
has db xref: ICDO:8850/0
has db xref: MESH:D008067
has db xref: MESH:D018205
has db xref: NCI:C3192
has db xref: NCI:C4248
has db xref: NCI:C4502
has db xref: SNOMEDCT_US_2023_03_01:115227001
has db xref: SNOMEDCT_US_2023_03_01:154612003
has db xref: SNOMEDCT_US_2023_03_01:254830006
has db xref: UMLS_CUI:C0023798
has db xref: UMLS_CUI:C0206631
has db xref: UMLS_CUI:C0346118
has exact synonym: Lipomatous neoplasm
has exact synonym: Lipomatous tumor
has exact synonym: benign lipomatous tumor
has exact synonym: benign tumor of Adipose tissue
has exact synonym: tumor of adipose tissue
has OBO namespace: disease_ontology
has related synonym: multiple lipomatosis
id: DOID:3315
in subset: DO cancer slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: lipoma
annotated property: IAO_0000115
annotated target: A cell type benign neoplasm that is composed of lipocytes.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Benign_tumor

perivascular tumor
type: Class
subclass of: vascular cancer
has alternative id: DOID:5234
has db xref: NCI:C6528
has db xref: NCI:C6530
has db xref: UMLS_CUI:C1334611
has db xref: UMLS_CUI:C1335392
has exact synonym: malignant perivascular cancer
has OBO namespace: disease_ontology
id: DOID:3316
in subset: NCIthesaurus

hepatic angiomyolipoma
type: Class
subclass of: DOID 916
has db xref: NCI:C27485
has db xref: SNOMEDCT_US_2023_03_01:1196904007
has db xref: UMLS_CUI:C1333962
has OBO namespace: disease_ontology
id: DOID:3317
in subset: NCIthesaurus

epithelioid type angiomyolipoma
type: Class
subclass of: angiomyolipoma
has db xref: NCI:C38151
has db xref: SNOMEDCT_US_2021_09_01:733836008
has exact synonym: Epithelioid angiomyolipoma
has OBO namespace: disease_ontology
id: DOID:3318
in subset: NCIthesaurus

lymphangioleiomyomatosis
type: Class
subclass of: DOID 850
IAO_0000115: A lung disease that is characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas.
has alternative id: DOID:3682
has db xref: GARD:3319
has db xref: ICDO:9174/1
has db xref: MIM:606690
has db xref: NCI:C38153
has db xref: ORDO:538
has db xref: SNOMEDCT_US_2023_03_01:277844007
has db xref: UMLS_CUI:C0349649
has exact synonym: lung lymphangioleiomyomatosis
has exact synonym: lymphangiomyomatosis
has exact synonym: pulmonary lymphangioleiomyomatosis
has OBO namespace: disease_ontology
id: DOID:3319
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: lymphangioleiomyomatosis
annotated property: IAO_0000115
annotated target: A lung disease that is characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/31610670/

amyotrophic lateral sclerosis
type: Class
subclass of: neurodegenerative disease
IAO_0000115: A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.
has db xref: GARD:5786
has db xref: ICD10CM:G12.21
has db xref: ICD9CM:335.20
has db xref: KEGG:05014
has db xref: MESH:D000690
has db xref: MIM:PS105400
has db xref: NCI:C34373
has db xref: ORDO:803
has db xref: SNOMEDCT_US_2023_03_01:86044005
has db xref: UMLS_CUI:C0002736
has exact synonym: ALS
has exact synonym: Lou Gehrig's disease
has exact synonym: motor neuron disease, bulbar
has OBO namespace: disease_ontology
id: DOID:332
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: amyotrophic lateral sclerosis
annotated property: IAO_0000115
annotated target: A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis
has db xref: url:http://www.ninds.nih.gov/disorders/amyotrophiclateralsclerosis/detail_ALS.htm

Axiom
annotated source: amyotrophic lateral sclerosis
annotated property: hasExactSynonym
annotated target: ALS
has synonym type: OMO_0003012

Tay-Sachs disease
type: Class
subclass of: sphingolipidosis
IAO_0000115: A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23.
has db xref: GARD:7737
has db xref: ICD10CM:E75.02
has db xref: MESH:D013661
has db xref: MIM:272800
has db xref: NCI:C85184
has db xref: SNOMEDCT_US_2023_03_01:111385000
has db xref: UMLS_CUI:C0039373
has exact synonym: GM2 gangliosidosis, type 1
has exact synonym: hexosaminidase A deficiency
has OBO namespace: disease_ontology
id: DOID:3320
in subset: DO childhood cancer slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Tay-Sachs disease
annotated property: IAO_0000115
annotated target: A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23.
has db xref: url:https://medlineplus.gov/genetics/condition/tay-sachs-disease/
has db xref: url:https://www.genome.gov/Genetic-Disorders/Tay-Sachs-Disease
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK1218/

GM1 gangliosidosis
type: Class
subclass of: sphingolipidosis
IAO_0000115: A gangliosidosis that is characterized by progressive destruction of nerve cells in the brain and spinal cord and that has_material_basis_in mutations in the gene encoding beta-galactosidase-1 (GLB1) resulting in build up of GM1 ganglioside.
has db xref: GARD:10891
has db xref: ICD10CM:E75.19
has db xref: MESH:D016537
has db xref: NCI:C84739
has db xref: SNOMEDCT_US_2023_03_01:32917001
has db xref: UMLS_CUI:C0085131
has exact synonym: Beta-galactosidase deficiency
has exact synonym: deficiency of beta-galactosidase
has exact synonym: gangliosidosis GM1
has OBO namespace: disease_ontology
id: DOID:3322
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: GM1 gangliosidosis
annotated property: IAO_0000115
annotated target: A gangliosidosis that is characterized by progressive destruction of nerve cells in the brain and spinal cord and that has_material_basis_in mutations in the gene encoding beta-galactosidase-1 (GLB1) resulting in build up of GM1 ganglioside.
type: ECO_0007637
has db xref: url:https://ghr.nlm.nih.gov/condition/gm1-gangliosidosis

Sandhoff disease
type: Class
subclass of: sphingolipidosis
IAO_0000115: A GM2 gangliosidosis that is characterized by an accumulation of GM2 gangliosides, particularly in neurons, and that has_material_basis_in mutation in the beta subunit of hexosaminidase (HEXB) on chromosome 5q13.
has db xref: GARD:7604
has db xref: ICD10CM:E75.01
has db xref: MESH:D012497
has db xref: MIM:268800
has db xref: NCI:C85052
has db xref: SNOMEDCT_US_2023_03_01:23849003
has db xref: UMLS_CUI:C0036161
has exact synonym: Sandhoff Jatzkewitz disease
has OBO namespace: disease_ontology
id: DOID:3323
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Sandhoff disease
annotated property: IAO_0000115
annotated target: A GM2 gangliosidosis that is characterized by an accumulation of GM2 gangliosides, particularly in neurons, and that has_material_basis_in mutation in the beta subunit of hexosaminidase (HEXB) on chromosome 5q13.
type: ECO_0007637
has db xref: url:https://ghr.nlm.nih.gov/condition/sandhoff-disease

mood disorder
type: Class
subclass of: cognitive disorder
IAO_0000115: A cognitive disorder that involves a disturbance in mood as the predominant underlying feature.
has db xref: EFO:0004247
has db xref: ICD10CM:F39
has db xref: MESH:D019964
has db xref: NCI:C92200
has db xref: SNOMEDCT_US_2023_03_01:46206005
has db xref: UMLS_CUI:C0525045
has exact synonym: episodic mood disorder
has OBO namespace: disease_ontology
id: DOID:3324
in subset: NCIthesaurus
comment: Updating outdated UMLS CUI.

Axiom
annotated source: mood disorder
annotated property: IAO_0000115
annotated target: A cognitive disorder that involves a disturbance in mood as the predominant underlying feature.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Mood_disorder

purpura
type: Class
subclass of: blood coagulation disease
has db xref: ICD10CM:D69.2
has db xref: MESH:D011693
has db xref: NCI:C78787
has db xref: SNOMEDCT_US_2023_03_01:423902002
has db xref: UMLS_CUI:C0034150
has exact synonym: Purpuric disorder
has OBO namespace: disease_ontology
id: DOID:3326
in subset: NCIthesaurus

partial motor epilepsy
type: Class
subclass of: focal epilepsy
has db xref: MESH:D020938
has db xref: NCI:C50847
has db xref: SNOMEDCT_US_2023_03_01:128612007
has db xref: UMLS_CUI:C0016399
has exact synonym: Focal motor seizure
has exact synonym: epilepsy, focal motor
has OBO namespace: disease_ontology
id: DOID:3327
in subset: NCIthesaurus

temporal lobe epilepsy
type: Class
subclass of: focal epilepsy
IAO_0000115: A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.
has db xref: MESH:D004833
has db xref: MIM:PS600512
has db xref: NCI:C177244
has db xref: SNOMEDCT_US_2023_03_01:84340007
has db xref: UMLS_CUI:C0014556
has exact synonym: epilepsy, temporal lobe
has OBO namespace: disease_ontology
id: DOID:3328
in subset: NCIthesaurus

Axiom
annotated source: temporal lobe epilepsy
annotated property: IAO_0000115
annotated target: A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.
has db xref: url:https://en.wikipedia.org/wiki/Temporal_lobe_epilepsy

histrionic personality disorder
type: Class
subclass of: disease of mental health
IAO_0000115: A personality disorder that is characterized by a pattern of excessive emotionality and attention-seeking, including an excessive need for approval and inappropriately seductive behavior, usually beginning in early adulthood.
has db xref: ICD10CM:F60.4
has db xref: ICD9CM:301.5
has db xref: MESH:D006677
has db xref: NCI:C92634
has db xref: SNOMEDCT_US_2023_03_01:192489002
has db xref: UMLS_CUI:C0019681
has OBO namespace: disease_ontology
id: DOID:334
in subset: NCIthesaurus

Axiom
annotated source: histrionic personality disorder
annotated property: IAO_0000115
annotated target: A personality disorder that is characterized by a pattern of excessive emotionality and attention-seeking, including an excessive need for approval and inappropriately seductive behavior, usually beginning in early adulthood.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Histrionic_personality_disorder

osteitis fibrosa
type: Class
subclass of: DOID 65
IAO_0000115: A bone resorption disease that has_material_basis_in hyperparathyroidism which results_in hyperactivity in osteoclasts, deformity, and loss of mass located_in bone.
has db xref: MESH:D010002
has db xref: NCI:C34875
has db xref: SNOMEDCT_US_2023_03_01:190451000
has db xref: UMLS_CUI:C0029405
has exact synonym: Osteitis fibrosa cystica generalisata
has exact synonym: Von Recklinghausen's bone disease
has exact synonym: hyperparathyroid bone disease
has OBO namespace: disease_ontology
id: DOID:3341
in subset: NCIthesaurus

Axiom
annotated source: osteitis fibrosa
annotated property: IAO_0000115
annotated target: A bone resorption disease that has_material_basis_in hyperparathyroidism which results_in hyperactivity in osteoclasts, deformity, and loss of mass located_in bone.
type: ECO_0007638
type: ECO_0007640
has db xref: url:http://en.wikipedia.org/wiki/Osteitis_fibrosa_cystica
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/001252.htm

glycoproteinosis
type: Class
subclass of: lysosomal storage disease
IAO_0000115: A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase).
has db xref: GARD:10670
has db xref: MESH:D009081
has db xref: MIM:256550
has db xref: NCI:C61267
has db xref: SNOMEDCT_US_2023_03_01:70528007
has db xref: UMLS_CUI:C0026697
has exact synonym: Mucolipidosis type I
has exact synonym: sialidosis
has OBO namespace: disease_ontology
id: DOID:3343
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping submitted by NeuroDevNet. [LS].

Axiom
annotated source: glycoproteinosis
annotated property: IAO_0000115
annotated target: A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase).
type: ECO_0007636
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Sialidosis
has db xref: url:https://en.wikipedia.org/wiki/Glycoproteinosis
has db xref: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/302/viewAbstract

osteosarcoma
type: Class
subclass of: bone cancer
IAO_0000115: A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).
has alternative id: DOID:183
has db xref: GARD:7284
has db xref: ICDO:9180/3
has db xref: MESH:D012516
has db xref: MESH:D018213
has db xref: MIM:259500
has db xref: NCI:C9145
has db xref: ORDO:668
has db xref: SNOMEDCT_US_2023_03_01:189878003
has db xref: UMLS_CUI:C0029463
has db xref: UMLS_CUI:C0206639
has exact synonym: Osteogenic sarcoma
has exact synonym: Skeletal sarcoma
has exact synonym: bone tissue neoplasm
has exact synonym: osteoid sarcoma
has OBO namespace: disease_ontology
id: DOID:3347
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: osteosarcoma
annotated property: IAO_0000115
annotated target: A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).
type: ECO_0007637
type: ECO_0007638
type: ECO_0007641
has db xref: url:http://en.wikipedia.org/wiki/Osteosarcoma
has db xref: url:http://www.cancer.gov/dictionary?cdrid=45395

mesenchymal cell neoplasm
type: Class
subclass of: cancer
IAO_0000115: A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic connective tissue that is capable of developing into connective tissue, such as bone, and cartilage, the lymphatic system, and the circulatory system.
has alternative id: DOID:1630
has db xref: NCI:C6587
has db xref: NCI:C7059
has db xref: UMLS_CUI:C1332517
has db xref: UMLS_CUI:C1334699
has exact synonym: benign miscellaneous mesenchymal tumor
has exact synonym: mesenchymal tumor
has OBO namespace: disease_ontology
id: DOID:3350
in subset: NCIthesaurus

Axiom
annotated source: mesenchymal cell neoplasm
annotated property: IAO_0000115
annotated target: A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic connective tissue that is capable of developing into connective tissue, such as bone, and cartilage, the lymphatic system, and the circulatory system.
type: ECO_0007638
type: ECO_0007646
has db xref: url:http://en.wikipedia.org/wiki/Mesenchymal_cell
has db xref: url:http://www.ncbi.nlm.nih.gov/books/NBK9549/

bone angioendothelial sarcoma
type: Class
subclass of: bone cancer
has db xref: NCI:C6479
has db xref: UMLS_CUI:C1332574
has exact synonym: osseous hemangiosarcoma
has OBO namespace: disease_ontology
id: DOID:3351
in subset: NCIthesaurus

malignant fibrous histiocytoma of bone
type: Class
subclass of: cancer
has db xref: NCI:C8563
has db xref: UMLS_CUI:C0740479
has exact synonym: malignant fibrous Histiocytoma of the bone
has OBO namespace: disease_ontology
id: DOID:3352
in subset: NCIthesaurus

fibrosarcoma
type: Class
subclass of: cancer
IAO_0000115: A connective tissue cancer that has_material_basis_in fibrous connective tissue and characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern.
has alternative id: DOID:156
has alternative id: DOID:3509
has db xref: GARD:2327
has db xref: ICDO:8810/3
has db xref: MESH:D005354
has db xref: MESH:D018218
has db xref: NCI:C3043
has db xref: NCI:C6605
has db xref: NCI:C7075
has db xref: SNOMEDCT_US_2023_03_01:443250000
has db xref: UMLS_CUI:C0016057
has db xref: UMLS_CUI:C0206643
has db xref: UMLS_CUI:C1336021
has exact synonym: Fibrocytic tumor
has exact synonym: fibrosarcoma of soft tissue
has exact synonym: fibrous tissue neoplasm
has OBO namespace: disease_ontology
id: DOID:3355
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: fibrosarcoma
annotated property: IAO_0000115
annotated target: A connective tissue cancer that has_material_basis_in fibrous connective tissue and characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Fibrosarcoma

localized osteosarcoma
type: Class
subclass of: osteosarcoma
IAO_0000115: An osteosarcoma that is confined to a specific site without evidence of spread to other anatomic sites.
has db xref: NCI:C7780
has db xref: UMLS_CUI:C0278511
has exact synonym: localised Osteogenic sarcoma
has exact synonym: localised osteosarcoma
has exact synonym: localized Osteogenic sarcoma
has OBO namespace: disease_ontology
id: DOID:3356
in subset: NCIthesaurus

Axiom
annotated source: localized osteosarcoma
annotated property: IAO_0000115
annotated target: An osteosarcoma that is confined to a specific site without evidence of spread to other anatomic sites.
has db xref: url:https://www.cancer.org/cancer/types/osteosarcoma/detection-diagnosis-staging/staging.html

extraosseous osteosarcoma
type: Class
subclass of: osteosarcoma
IAO_0000115: An osteosarcoma arising from the soft tissue.
has db xref: NCI:C8810
has db xref: SNOMEDCT_US_2023_03_01:404077005
has db xref: UMLS_CUI:C0855052
has exact synonym: extraskeletal Osteogenic sarcoma
has exact synonym: extraskeletal osteosarcoma
has OBO namespace: disease_ontology
id: DOID:3357
in subset: NCIthesaurus

Axiom
annotated source: extraosseous osteosarcoma
annotated property: IAO_0000115
annotated target: An osteosarcoma arising from the soft tissue.
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4080674/

multifocal osteogenic sarcoma
type: Class
subclass of: bone cancer
has db xref: NCI:C6470
has db xref: SNOMEDCT_US_2023_03_01:431371000124105
has db xref: UMLS_CUI:C1334820
has OBO namespace: disease_ontology
id: DOID:3360
in subset: NCIthesaurus

childhood osteosarcoma
type: Class
subclass of: osteosarcoma
has db xref: NCI:C6585
has db xref: UMLS_CUI:C1332986
has exact synonym: pediatric osteosarcoma
has OBO namespace: disease_ontology
id: DOID:3361
in subset: DO cancer slim
in subset: DO childhood cancer slim
in subset: NCIthesaurus

coronary aneurysm
type: Class
subclass of: heart disease
has db xref: GARD:6200
has db xref: ICD10CM:I25.41
has db xref: ICD9CM:414.11
has db xref: MESH:D003323
has db xref: NCI:C168176
has db xref: SNOMEDCT_US_2023_03_01:50570003
has db xref: UMLS_CUI:C0010051
has exact synonym: Aneurysm of coronary vessels
has exact synonym: Aneurysmal lesion of coronary artery
has exact synonym: Arteriovenous aneurysm of coronary vessels
has OBO namespace: disease_ontology
id: DOID:3362
in subset: DO rare slim
in subset: NCIthesaurus

bone leiomyosarcoma
type: Class
subclass of: leiomyosarcoma
has db xref: NCI:C7154
has db xref: UMLS_CUI:C1332579
has OBO namespace: disease_ontology
id: DOID:3367
in subset: NCIthesaurus

Ewing sarcoma of bone
type: Class
subclass of: Ewing sarcoma
IAO_0000115: A peripheral primitive neuroectodermal tumor that is located_in bone.
has alternative id: DOID:4984
has alternative id: DOID:6392
has db xref: NCI:C35871
has db xref: NCI:C4835
has db xref: NCI:C6623
has db xref: SNOMEDCT_US_2023_03_01:307608006
has db xref: UMLS_CUI:C0585474
has db xref: UMLS_CUI:C1333481
has db xref: UMLS_CUI:C1334406
has exact synonym: Ewing's sarcoma/bone peripheral primitive neuroectodermal tumor
has exact synonym: bone Ewing sarcoma
has exact synonym: bone localized Ewing sarcoma
has exact synonym: bone localized Ewing's sarcoma
has exact synonym: localized Skeletal Ewing's sarcoma
has OBO namespace: disease_ontology
has related synonym: Ewing's sarcoma of bone
has related synonym: bone Ewing's sarcoma
id: DOID:3368
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: Ewing sarcoma of bone
annotated property: IAO_0000115
annotated target: A peripheral primitive neuroectodermal tumor that is located_in bone.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Ewing%27s_sarcoma

Ewing sarcoma
type: Class
subclass of: cancer
IAO_0000115: A connective tissue cancer that has_material_basis_in neural crest cells derives_from undeveloped, undifferentiated neuroectoderm.
has alternative id: DOID:0050607
has alternative id: DOID:4158
has alternative id: DOID:4390
has alternative id: DOID:4391
has alternative id: DOID:4392
has alternative id: DOID:4980
has db xref: GARD:6390
has db xref: ICDO:9364/3
has db xref: MESH:C563168
has db xref: MESH:D012512
has db xref: MESH:D018241
has db xref: MIM:612219
has db xref: NCI:C27901
has db xref: NCI:C27903
has db xref: NCI:C4817
has db xref: NCI:C7542
has db xref: NCI:C7806
has db xref: NCI:C9341
has db xref: SNOMEDCT_US_2023_03_01:134210007
has db xref: SNOMEDCT_US_2023_03_01:73676002
has db xref: SNOMEDCT_US_2023_03_01:76909002
has db xref: UMLS_CUI:C0553580
has db xref: UMLS_CUI:C0684337
has db xref: UMLS_CUI:C0796547
has db xref: UMLS_CUI:C0863029
has db xref: UMLS_CUI:C0877849
has db xref: UMLS_CUI:C1334408
has exact synonym: Ewing's family localized tumor
has exact synonym: Ewing's sarcoma/peripheral primitive neuroectodermal tumor
has exact synonym: Ewing's tumor
has exact synonym: Ewings sarcoma
has exact synonym: Ewings sarcoma-primitive neuroectodermal tumor
has exact synonym: PNET of Thoracopulmonary Region
has exact synonym: localized Ewing sarcoma
has exact synonym: localized Ewing's sarcoma
has exact synonym: localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor
has exact synonym: localized Ewing's tumor
has exact synonym: localized peripheral primitive neuroectodermal tumor
has exact synonym: peripheral primitive neuroectodermal tumor
has OBO namespace: disease_ontology
id: DOID:3369
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Ewing sarcoma
annotated property: IAO_0000115
annotated target: A connective tissue cancer that has_material_basis_in neural crest cells derives_from undeveloped, undifferentiated neuroectoderm.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007641
has db xref: url:http://en.wikipedia.org/wiki/Primitive_neuroectodermal_tumor
has db xref: url:http://www.cancer.gov/dictionary?cdrid=383924

spinal accessory nerve neoplasm
type: Class
subclass of: cranial nerve malignant neoplasm
has db xref: NCI:C5829
has db xref: SNOMEDCT_US_2023_03_01:126977003
has db xref: UMLS_CUI:C1263902
has exact synonym: XIth Cranial nerve tumors
has exact synonym: neoplasm of accessory nerve
has OBO namespace: disease_ontology
id: DOID:337
in subset: NCIthesaurus

chondrosarcoma
type: Class
subclass of: bone cancer
IAO_0000115: A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage.
has alternative id: DOID:3370
has db xref: GARD:6004
has db xref: GARD:6055
has db xref: ICDO:9220/3
has db xref: MESH:D002813
has db xref: MIM:215300
has db xref: NCI:C2946
has db xref: NCI:C7155
has db xref: SNOMEDCT_US_2023_03_01:443520009
has db xref: SNOMEDCT_US_2023_03_01:735679005
has db xref: UMLS_CUI:C0008479
has db xref: UMLS_CUI:C1335473
has exact synonym: Cartilaginous cancer
has exact synonym: chondrosarcoma of bone
has exact synonym: primary chondrosarcoma of the bone
has OBO namespace: disease_ontology
id: DOID:3371
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: chondrosarcoma
annotated property: IAO_0000115
annotated target: A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Chondrosarcoma

chondroblastic osteosarcoma
type: Class
subclass of: osteosarcoma
has db xref: ICDO:9181/3
has db xref: NCI:C4021
has db xref: SNOMEDCT_US_2023_03_01:76312009
has db xref: UMLS_CUI:C0279603
has exact synonym: chondrosarcomatous Osteogenic sarcoma
has OBO namespace: disease_ontology
id: DOID:3372
in subset: DO cancer slim
in subset: NCIthesaurus

parosteal osteosarcoma
type: Class
subclass of: peripheral osteosarcoma
has db xref: ICDO:9192/3
has db xref: MESH:D018217
has db xref: NCI:C8969
has db xref: SNOMEDCT_US_2023_03_01:91242000
has db xref: UMLS_CUI:C0206642
has exact synonym: Parosteal Osteogenic sarcoma
has exact synonym: juxtacortical osteosarcoma
has OBO namespace: disease_ontology
id: DOID:3373
in subset: DO cancer slim
in subset: NCIthesaurus

peripheral osteosarcoma
type: Class
subclass of: bone osteosarcoma
has db xref: NCI:C7134
has db xref: UMLS_CUI:C1332591
has exact synonym: Surface Osteosarcoma
has OBO namespace: disease_ontology
id: DOID:3374
in subset: NCIthesaurus

bone osteosarcoma
type: Class
subclass of: osteosarcoma
IAO_0000115: An osteosarcoma that is an usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs.
has alternative id: DOID:8580
has db xref: NCI:C53707
has db xref: SNOMEDCT_US_2023_03_01:307576001
has db xref: UMLS_CUI:C0585442
has exact synonym: Osteosarcoma of bone
has exact synonym: primary Osteosarcoma of bone
has OBO namespace: disease_ontology
id: DOID:3376
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: bone osteosarcoma
annotated property: IAO_0000115
annotated target: An osteosarcoma that is an usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs.
has db xref: url:https://my.clevelandclinic.org/health/diseases/15041-osteosarcoma

small cell osteogenic sarcoma
type: Class
subclass of: DOID 7602
has db xref: NCI:C4023
has db xref: SNOMEDCT_US_2023_03_01:12302002
has db xref: UMLS_CUI:C0279622
has exact synonym: Round cell osteosarcoma
has exact synonym: small cell Osteosarcoma
has OBO namespace: disease_ontology
id: DOID:3377
in subset: NCIthesaurus

metachronous osteosarcoma of the bone
type: Class
subclass of: osteosarcoma
has db xref: NCI:C38157
has db xref: UMLS_CUI:C1334704
has OBO namespace: disease_ontology
id: DOID:3379
in subset: NCIthesaurus

liposarcoma of bone
type: Class
subclass of: bone cancer
has db xref: NCI:C7598
has db xref: UMLS_CUI:C1332581
has exact synonym: Liposarcoma of the bone
has OBO namespace: disease_ontology
id: DOID:3381
in subset: NCIthesaurus

liposarcoma
type: Class
subclass of: cancer
IAO_0000115: A connective tissue cancer that arises in fat cells in deep soft tissue retroperitoneum and the extremities.
has alternative id: DOID:3939
has db xref: GARD:6913
has db xref: ICDO:8850/3
has db xref: MESH:D008080
has db xref: NCI:C3194
has db xref: SNOMEDCT_US_2023_03_01:254829001
has db xref: UMLS_CUI:C0023827
has exact synonym: lipomatous cancer
has OBO namespace: disease_ontology
id: DOID:3382
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: liposarcoma
annotated property: IAO_0000115
annotated target: A connective tissue cancer that arises in fat cells in deep soft tissue retroperitoneum and the extremities.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Liposarcoma

bacterial vaginosis
type: Class
subclass of: vaginitis
IAO_0000115: A vaginitis that is characterized by a grayish vaginal discharge usually of foul odor and the presence of Gardnerella vaginalis.
has db xref: MESH:D016585
has db xref: NCI:C116973
has db xref: SNOMEDCT_US_2023_03_01:237092002
has db xref: UMLS_CUI:C0085166
has OBO namespace: disease_ontology
id: DOID:3385
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: bacterial vaginosis
annotated property: IAO_0000115
annotated target: A vaginitis that is characterized by a grayish vaginal discharge usually of foul odor and the presence of Gardnerella vaginalis.
type: ECO_0007643
has db xref: url:https://www.merriam-webster.com/dictionary/bacterial%20vaginosis#medicalDictionary

periodontal disease
type: Class
subclass of: mouth disease
IAO_0000115: A mouth disease that is relating to or affecting the structures surrounding and supporting the teeth.
has db xref: ICD10CM:K05.6
has db xref: MESH:D010510
has db xref: NCI:C63743
has db xref: SNOMEDCT_US_2023_03_01:196354003
has db xref: UMLS_CUI:C0031090
has exact synonym: disease of supporting structures of teeth
has exact synonym: periodontium disorder
has OBO namespace: disease_ontology
id: DOID:3388
in subset: NCIthesaurus

Axiom
annotated source: periodontal disease
annotated property: IAO_0000115
annotated target: A mouth disease that is relating to or affecting the structures surrounding and supporting the teeth.
has db xref: url:https://www.nidcr.nih.gov/health-info/gum-disease/more-info

Papillon-Lefevre disease
type: Class
subclass of: ectodermal dysplasia
IAO_0000115: An ectodermal dysplasia that is characterized by palmoplantar keratoderma associated with early-onset periodontitis and has_material_basis_in homozygous or compound heterozygous mutation in the cathepsin C gene on chromosome 11q14.
has db xref: GARD:3100
has db xref: MESH:D010214
has db xref: MIM:245000
has db xref: NCI:C84992
has db xref: ORDO:678
has db xref: SNOMEDCT_US_2023_03_01:40158001
has db xref: UMLS_CUI:C0030360
has exact synonym: Papillon Lefevre syndrome
has exact synonym: Papillon-Lefvre syndrome
has OBO namespace: disease_ontology
id: DOID:3389
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Papillon-Lefevre disease
annotated property: IAO_0000115
annotated target: An ectodermal dysplasia that is characterized by palmoplantar keratoderma associated with early-onset periodontitis and has_material_basis_in homozygous or compound heterozygous mutation in the cathepsin C gene on chromosome 11q14.
type: ECO_0007638
type: ECO_0007645
has db xref: url:https://en.wikipedia.org/wiki/Papillon–Lefevre_syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/articles/PMC4507741/

accessory nerve disease
type: Class
subclass of: DOID 5656
IAO_0000115: A glossopharyngeal nerve disease that is characterized by involvement of the accessory nerve (eleventh cranial nerve).
has db xref: ICD9CM:352.4
has db xref: MESH:D020436
has db xref: NCI:C26953
has db xref: SNOMEDCT_US_2023_03_01:84759007
has db xref: UMLS_CUI:C0152180
has exact synonym: Eleventh nerve disorder
has exact synonym: disorder of 11th nerve
has exact synonym: disorder of accessory [11th] nerve
has exact synonym: disorder of accessory nerve
has OBO namespace: disease_ontology
id: DOID:339
in subset: NCIthesaurus

Axiom
annotated source: accessory nerve disease
annotated property: IAO_0000115
annotated target: A glossopharyngeal nerve disease that is characterized by involvement of the accessory nerve (eleventh cranial nerve).
has db xref: url:https://en.wikipedia.org/wiki/Accessory_nerve_disorder

coronary artery disease
type: Class
subclass of: vascular disease
IAO_0000115: An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.
has alternative id: DOID:10506
has alternative id: DOID:3363
has alternative id: DOID:3394
has alternative id: DOID:9420
has db xref: EFO:0001645
has db xref: ICD10CM:I20-I25
has db xref: ICD10CM:I25
has db xref: ICD10CM:I25.10
has db xref: ICD9CM:410-414.99
has db xref: ICD9CM:414.0
has db xref: ICD9CM:414.9
has db xref: MESH:D003324
has db xref: MESH:D003327
has db xref: MESH:D017202
has db xref: MIM:300464
has db xref: MIM:607339
has db xref: MIM:608316
has db xref: MIM:608318
has db xref: MIM:608320
has db xref: MIM:610947
has db xref: MIM:611139
has db xref: MIM:612030
has db xref: MIM:614293
has db xref: NCI:C35505
has db xref: NCI:C50625
has db xref: SNOMEDCT_US_2023_03_01:194852007
has db xref: SNOMEDCT_US_2023_03_01:233822007
has db xref: SNOMEDCT_US_2023_03_01:41702007
has db xref: SNOMEDCT_US_2023_03_01:53741008
has db xref: UMLS_CUI:C0010054
has db xref: UMLS_CUI:C0010068
has db xref: UMLS_CUI:C0151744
has db xref: UMLS_CUI:C0264694
has exact synonym: CHD
has exact synonym: Coronary disease
has exact synonym: Ischemic Heart Disease
has exact synonym: coronary arteriosclerosis
has exact synonym: coronary heart disease
has OBO namespace: disease_ontology
id: DOID:3393
in subset: DO RAD slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: coronary artery disease
annotated property: IAO_0000115
annotated target: An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Coronary_heart_disease

Axiom
annotated source: coronary artery disease
annotated property: hasExactSynonym
annotated target: CHD
has synonym type: OMO_0003012

inappropriate ADH syndrome
type: Class
subclass of: endocrine system disease
IAO_0000115: A pituitary gland disease resulting from excessive production of antidiuretic hormone (ADH).
has db xref: ICD10CM:E22.2
has db xref: MESH:D007177
has db xref: NCI:C3988
has db xref: SNOMEDCT_US_2023_03_01:55004003
has db xref: UMLS_CUI:C0021141
has exact synonym: SIADH
has exact synonym: syndrome of Inappropriate Antidiuretic Hormone Secretion
has exact synonym: syndrome of inappropriate secretion of ADH
has exact synonym: syndrome of inappropriate secretion of antidiuretic hormone
has exact synonym: syndrome of inappropriate vasopressin secretion
has OBO namespace: disease_ontology
id: DOID:3401
in subset: NCIthesaurus

Axiom
annotated source: inappropriate ADH syndrome
annotated property: IAO_0000115
annotated target: A pituitary gland disease resulting from excessive production of antidiuretic hormone (ADH).
type: ECO_0007640
has db xref: url:https://medlineplus.gov/ency/article/000314.htm

Axiom
annotated source: inappropriate ADH syndrome
annotated property: hasExactSynonym
annotated target: SIADH
has synonym type: OMO_0003012

histiocytosis
type: Class
subclass of: disease
IAO_0000115: A lymphatic system disease that is characterized by an excessive number of histiocytes.
has alternative id: DOID:3344
has db xref: MESH:D015614
has db xref: NCI:C3106
has db xref: SNOMEDCT_US_2023_03_01:60657004
has db xref: UMLS_CUI:C0019618
has exact synonym: Hand Schuller Christian disease
has exact synonym: chronic Histiocytosis X
has OBO namespace: disease_ontology
id: DOID:3405
in subset: NCIthesaurus

Axiom
annotated source: histiocytosis
annotated property: IAO_0000115
annotated target: A lymphatic system disease that is characterized by an excessive number of histiocytes.
type: ECO_0007638
type: ECO_0007640
has db xref: url:http://en.wikipedia.org/wiki/Histiocytosis
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/000068.htm

carotid artery disease
type: Class
subclass of: DOID 6713
has db xref: MESH:D002340
has db xref: NCI:C84476
has db xref: SNOMEDCT_US_2023_03_01:371160000
has db xref: UMLS_CUI:C0007273
has exact synonym: disorder of carotid artery
has OBO namespace: disease_ontology
id: DOID:3407
in subset: NCIthesaurus

alpha-mannosidosis
type: Class
subclass of: lysosomal storage disease
IAO_0000115: A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome.
has db xref: GARD:6968
has db xref: MESH:D008363
has db xref: MIM:248500
has db xref: NCI:C84548
has db xref: SNOMEDCT_US_2023_03_01:65524005
has db xref: UMLS_CUI:C0024748
has exact synonym: Alpha-D-mannosidosis
has exact synonym: alpha-mannosidase deficiency
has exact synonym: deficiency of alpha-mannosidase
has OBO namespace: disease_ontology
id: DOID:3413
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: alpha-mannosidosis
annotated property: IAO_0000115
annotated target: A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Alpha-mannosidosis

glossopharyngeal nerve neoplasm
type: Class
subclass of: cranial nerve malignant neoplasm
has db xref: NCI:C5828
has db xref: SNOMEDCT_US_2023_03_01:126975006
has db xref: UMLS_CUI:C1263900
has exact synonym: neoplasm of glossopharyngeal nerve
has exact synonym: tumor of Glossopharyngeal nerve
has OBO namespace: disease_ontology
id: DOID:3417
in subset: NCIthesaurus

optic nerve neoplasm
type: Class
subclass of: cranial nerve malignant neoplasm
has db xref: MESH:D019574
has db xref: NCI:C4801
has db xref: SNOMEDCT_US_2023_03_01:126968005
has db xref: UMLS_CUI:C0524802
has exact synonym: Tumour of optic nerve
has exact synonym: neoplasm of optic nerve
has exact synonym: tumor of Second Cranial nerve
has OBO namespace: disease_ontology
id: DOID:3419
in subset: NCIthesaurus

trochlear nerve neoplasm
type: Class
subclass of: cranial nerve malignant neoplasm
has db xref: NCI:C5825
has db xref: SNOMEDCT_US_2023_03_01:126970001
has db xref: UMLS_CUI:C1263896
has exact synonym: neoplasm of trochlear nerve
has exact synonym: tumor of Trochlear nerve
has OBO namespace: disease_ontology
id: DOID:3421
in subset: NCIthesaurus

granulomatous myositis
type: Class
subclass of: DOID 633
has db xref: NCI:C27575
has db xref: UMLS_CUI:C1334150
has OBO namespace: disease_ontology
id: DOID:3428
in subset: NCIthesaurus
comment: Adding UMLS CUI for synonym.

inclusion body myositis
type: Class
subclass of: DOID 633
IAO_0000115: A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle.
has db xref: GARD:3896
has db xref: ICD10CM:G72.41
has db xref: ICD9CM:359.71
has db xref: MESH:D018979
has db xref: MIM:147421
has db xref: NCI:C84786
has db xref: ORDO:611
has db xref: SNOMEDCT_US_2023_03_01:72315009
has db xref: UMLS_CUI:C0238190
has OBO namespace: disease_ontology
id: DOID:3429
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: inclusion body myositis
annotated property: IAO_0000115
annotated target: A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle.
type: ECO_0007636
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Inclusion_body_myositis
has db xref: url:https://ghr.nlm.nih.gov/condition/idiopathic-inflammatory-myopathy

cerebritis
type: Class
subclass of: DOID 936
IAO_0000115: A brain disease that is characterized by inflammation of the brain tissue occurring as a result of an underlying condition.
has db xref: NCI:C27199
has db xref: UMLS_CUI:C0742115
has OBO namespace: disease_ontology
id: DOID:3431
in subset: NCIthesaurus

Axiom
annotated source: cerebritis
annotated property: IAO_0000115
annotated target: A brain disease that is characterized by inflammation of the brain tissue occurring as a result of an underlying condition.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Cerebritis

viral laryngitis
type: Class
subclass of: DOID 9396
IAO_0000115: A acute laryngitis which is caused by viral infection.
has db xref: NCI:C27305
has db xref: SNOMEDCT_US_2023_03_01:441551009
has db xref: UMLS_CUI:C0853195
has OBO namespace: disease_ontology
id: DOID:3436
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: viral laryngitis
annotated property: IAO_0000115
annotated target: A acute laryngitis which is caused by viral infection.
type: ECO_0007637
has db xref: url:http://www.merck.com/mmpe/sec08/ch092/ch092d.html

laryngitis
type: Class
subclass of: DOID 786
IAO_0000115: A laryngeal disease involving an inflammation of the larynx leading to hoarse voice or a complete loss of voice due to irritation of the vocal cords caused by viral, bacterial or fungal infection, inflammation due to overuse of the vocal cords and excessive coughing, smoking, or alcohol consumption.
has db xref: MESH:D007827
has db xref: NCI:C26811
has db xref: SNOMEDCT_US_2023_03_01:45913009
has db xref: UMLS_CUI:C0023067
has OBO namespace: disease_ontology
id: DOID:3437
in subset: NCIthesaurus

Axiom
annotated source: laryngitis
annotated property: IAO_0000115
annotated target: A laryngeal disease involving an inflammation of the larynx leading to hoarse voice or a complete loss of voice due to irritation of the vocal cords caused by viral, bacterial or fungal infection, inflammation due to overuse of the vocal cords and excessive coughing, smoking, or alcohol consumption.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Laryngitis

mammary Paget's disease
type: Class
subclass of: breast adenocarcinoma
IAO_0000115: A breast adenocarcinoma that has_material_basis_in epidermal Paget cells, which are malignant glandular epithelial cells with abundant and clear cytoplasm, usually containing mucin, and pleomorphic and hyperchromatic nucleus.
has db xref: NCI:C7073
has db xref: UMLS_CUI:C0030185
has db xref: UMLS_CUI:C1368019
has exact synonym: Paget cell neoplasm
has exact synonym: Paget's disease
has exact synonym: Paget's disease of the breast
has exact synonym: mammary Paget disease
has OBO namespace: disease_ontology
id: DOID:3443
in subset: NCIthesaurus

Axiom
annotated source: mammary Paget's disease
annotated property: IAO_0000115
annotated target: A breast adenocarcinoma that has_material_basis_in epidermal Paget cells, which are malignant glandular epithelial cells with abundant and clear cytoplasm, usually containing mucin, and pleomorphic and hyperchromatic nucleus.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4371672/

scrotum Paget's disease
type: Class
subclass of: scrotal carcinoma
has db xref: NCI:C7728
has db xref: UMLS_CUI:C0238330
has exact synonym: Paget's disease of scrotum
has exact synonym: scrotum Paget disease
has OBO namespace: disease_ontology
id: DOID:3444
in subset: DO cancer slim
in subset: NCIthesaurus

scrotal carcinoma
type: Class
subclass of: DOID 518
has db xref: NCI:C6389
has db xref: UMLS_CUI:C1370468
has exact synonym: carcinoma of scrotum
has OBO namespace: disease_ontology
id: DOID:3445
in subset: NCIthesaurus

anal Paget's disease
type: Class
subclass of: anus adenocarcinoma
has db xref: NCI:C5598
has db xref: UMLS_CUI:C1332274
has exact synonym: Paget's disease of anus
has exact synonym: anal Paget disease
has OBO namespace: disease_ontology
has related synonym: Paget's disease of the anus
id: DOID:3446
in subset: NCIthesaurus

anus adenocarcinoma
type: Class
subclass of: DOID 4908
IAO_0000115: An anal carcinoma that originating in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin.
has db xref: NCI:C5600
has db xref: SNOMEDCT_US_2023_03_01:423607006
has db xref: UMLS_CUI:C1332257
has exact synonym: adenocarcinoma of anus
has OBO namespace: disease_ontology
has related synonym: adenocarcinoma of the anus
id: DOID:3447
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: anus adenocarcinoma
annotated property: IAO_0000115
annotated target: An anal carcinoma that originating in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Adenocarcinoma

penis Paget's disease
type: Class
subclass of: penis carcinoma
has db xref: NCI:C27817
has db xref: SNOMEDCT_US_2023_03_01:255104003
has db xref: UMLS_CUI:C0221286
has exact synonym: Paget's disease of penis
has exact synonym: penis Paget disease
has OBO namespace: disease_ontology
id: DOID:3448
in subset: NCIthesaurus

penis carcinoma
type: Class
subclass of: penile cancer
IAO_0000115: A penile cancer that is located_in the skin or tissues of the penis.
has db xref: NCI:C9061
has db xref: SNOMEDCT_US_2023_03_01:372106005
has db xref: UMLS_CUI:C0853105
has exact synonym: Penile carcinoma
has exact synonym: carcinoma of penis
has OBO namespace: disease_ontology
id: DOID:3449
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: penis carcinoma
annotated property: IAO_0000115
annotated target: A penile cancer that is located_in the skin or tissues of the penis.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Carcinoma_of_the_penis

uterine disease
type: Class
subclass of: reproductive system disease
IAO_0000115: A female reproductive system disease that is located_in the uterus.
has db xref: ICD10CM:N85.9
has db xref: ICD9CM:621.9
has db xref: MESH:D014591
has db xref: NCI:C26907
has db xref: SNOMEDCT_US_2023_03_01:237068005
has db xref: UMLS_CUI:C0042131
has OBO namespace: disease_ontology
id: DOID:345
in subset: NCIthesaurus

Axiom
annotated source: uterine disease
annotated property: IAO_0000115
annotated target: A female reproductive system disease that is located_in the uterus.
type: ECO_0007643
has db xref: url:http://www.merriam-webster.com/dictionary/uterus

cutaneous Paget's disease
type: Class
subclass of: skin carcinoma
IAO_0000115: A skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli.
has db xref: MESH:D010145
has db xref: NCI:C3302
has exact synonym: Paget's disease of skin
has exact synonym: cutaneous Paget disease
has exact synonym: extramammary Paget's disease
has OBO namespace: disease_ontology
id: DOID:3450
in subset: NCIthesaurus

Axiom
annotated source: cutaneous Paget's disease
annotated property: IAO_0000115
annotated target: A skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli.
type: ECO_0007636

skin carcinoma
type: Class
subclass of: skin cancer
IAO_0000115: A skin cancer that is located_in tissues of the skin and develops from epithelial cells.
has db xref: NCI:C4914
has db xref: UMLS_CUI:C0699893
has exact synonym: carcinoma of skin
has OBO namespace: disease_ontology
id: DOID:3451
in subset: DO RAD slim
in subset: NCIthesaurus

Axiom
annotated source: skin carcinoma
annotated property: IAO_0000115
annotated target: A skin cancer that is located_in tissues of the skin and develops from epithelial cells.
type: ECO_0007637
has db xref: url:http://www.cancer.gov/cancertopics/types/skin

invasive lobular carcinoma
type: Class
subclass of: breast lobular carcinoma
IAO_0000115: A breast lobular carcinoma that is characterized by infiltration into the tissue of the breast outside of the lobule where it originated.
has db xref: MESH:D018275
has db xref: NCI:C3771
has db xref: SNOMEDCT_US_2023_03_01:89740008
has db xref: UMLS_CUI:C0206692
has exact synonym: Lobular carcinoma
has exact synonym: Lobular carcinoma of breast
has exact synonym: Lobular carcinoma of the breast
has OBO namespace: disease_ontology
id: DOID:3457
in subset: NCIthesaurus

Axiom
annotated source: invasive lobular carcinoma
annotated property: IAO_0000115
annotated target: A breast lobular carcinoma that is characterized by infiltration into the tissue of the breast outside of the lobule where it originated.
type: ECO_0007645
has db xref: url:http://www.breastcancer.org/symptoms/types/ilc
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/25849106

breast adenocarcinoma
type: Class
subclass of: breast carcinoma
IAO_0000115: A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast.
has db xref: NCI:C5214
has db xref: SNOMEDCT_US_2023_03_01:865954003
has db xref: UMLS_CUI:C0858252
has exact synonym: Mammary adenocarcinoma
has OBO namespace: disease_ontology
has related synonym: adenocarcinoma of breast
id: DOID:3458
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: breast adenocarcinoma
annotated property: IAO_0000115
annotated target: A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast.
has db xref: url:http://www.virtualmedicalcentre.com/diseases.asp?did=696

breast carcinoma
type: Class
subclass of: breast cancer
IAO_0000115: A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
has db xref: EFO:0000305
has db xref: MESH:D001943
has db xref: NCI:C4872
has db xref: SNOMEDCT_US_2023_03_01:154513000
has db xref: UMLS_CUI:C0678222
has exact synonym: Mammary carcinoma
has exact synonym: carcinoma of breast
has OBO namespace: disease_ontology
id: DOID:3459
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: breast carcinoma
annotated property: IAO_0000115
annotated target: A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Breast_cancer

hamartoma
type: Class
subclass of: disease
IAO_0000115: A benign neoplasm characterized by disorganized tissue formed by a mixture of cells native to a particular anatomical location.
has alternative id: DOID:3474
has db xref: MESH:D006222
has db xref: NCI:C3075
has db xref: SNOMEDCT_US_2025_03_01:400006008
has db xref: UMLS_CUI:C0018552
has exact synonym: hamartomatous polyp
has OBO namespace: disease_ontology
id: DOID:3462
in subset: NCIthesaurus

Axiom
annotated source: hamartoma
annotated property: IAO_0000115
annotated target: A benign neoplasm characterized by disorganized tissue formed by a mixture of cells native to a particular anatomical location.
type: ECO_0007638
type: ECO_0007646
has db xref: url:https://en.wikipedia.org/wiki/Hamartoma
has db xref: url:https://my.clevelandclinic.org/health/diseases/24652-hamartoma
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK562298/

breast disease
type: Class
subclass of: disease
IAO_0000115: A disease of anatomical entity that is located_in the breast.
has db xref: ICD10CM:N64.9
has db xref: ICD9CM:610-612.99
has db xref: MESH:D001941
has db xref: NCI:C26709
has db xref: SNOMEDCT_US_2023_03_01:79604008
has db xref: UMLS_CUI:C0006145
has OBO namespace: disease_ontology
id: DOID:3463
in subset: DO MGI slim
in subset: NCIthesaurus

Axiom
annotated source: breast disease
annotated property: IAO_0000115
annotated target: A disease of anatomical entity that is located_in the breast.
type: ECO_0007644
has db xref: url:http://www.nlm.nih.gov/medlineplus/breastdiseases.html

iris cancer
type: Class
subclass of: uveal cancer
has alternative id: DOID:6353
has db xref: MESH:D015811
has db xref: NCI:C3142
has db xref: NCI:C4554
has db xref: SNOMEDCT_US_2023_03_01:188264002
has db xref: SNOMEDCT_US_2023_03_01:231964001
has db xref: UMLS_CUI:C0022079
has db xref: UMLS_CUI:C0346372
has exact synonym: malignant neoplasm of the Iris
has exact synonym: malignant tumor of iris
has exact synonym: tumor of the Iris
has OBO namespace: disease_ontology
id: DOID:3478
in subset: NCIthesaurus

uveal cancer
type: Class
subclass of: ocular cancer
IAO_0000115: An ocular cancer that is located_in the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid. The uvea is the most common location of intraocular malignancy in adults and may commonly be caused by a subtype of cancer that arises from melanocytes.
has alternative id: DOID:12754
has db xref: NCI:C6105
has db xref: UMLS_CUI:C3665670
has exact synonym: Malignant neoplasm of uveal tract
has exact synonym: Uveal tumor
has exact synonym: malignant Uveal tumor
has OBO namespace: disease_ontology
id: DOID:3479
in subset: NCIthesaurus

Axiom
annotated source: uveal cancer
annotated property: IAO_0000115
annotated target: An ocular cancer that is located_in the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid. The uvea is the most common location of intraocular malignancy in adults and may commonly be caused by a subtype of cancer that arises from melanocytes.
has db xref: url:https://www.umkelloggeye.org/conditions-treatments/uveal-melanoma-ocular-melanoma

uveal disease
type: Class
subclass of: DOID 5614
IAO_0000115: An eye disease affecting the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid.
has db xref: GARD:8192
has db xref: MESH:D014603
has db xref: NCI:C26908
has db xref: SNOMEDCT_US_2023_03_01:95678007
has db xref: UMLS_CUI:C0042161
has OBO namespace: disease_ontology
id: DOID:3480
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: uveal disease
annotated property: IAO_0000115
annotated target: An eye disease affecting the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid.
type: ECO_0007636
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C26908

plague
type: Class
subclass of: bacterial infectious disease
IAO_0000115: A primary bacterial infectious disease that results_in infection, located_in lymph node, located_in vasculature or located_in lungs, has_material_basis_in Yersinia pestis, which is transmitted_by oriental rat flea (Xenopsylla cheopis) infected by feeding on rodents and other mammals, transmitted_by air, transmitted_by direct contact or transmitted_by ingestion of contaminated undercooked food.
has db xref: ICD10CM:A20
has db xref: ICD9CM:020
has db xref: MESH:D010930
has db xref: NCI:C85015
has db xref: SNOMEDCT_US_2023_03_01:58750007
has db xref: UMLS_CUI:C0032064
has OBO namespace: disease_ontology
id: DOID:3482
in subset: DO infectious disease slim
in subset: NCIthesaurus
in subset: gram-negative bacterial infectious disease
in subset: zoonotic infectious disease

Axiom
annotated source: plague
annotated property: IAO_0000115
annotated target: A primary bacterial infectious disease that results_in infection, located_in lymph node, located_in vasculature or located_in lungs, has_material_basis_in Yersinia pestis, which is transmitted_by oriental rat flea (Xenopsylla cheopis) infected by feeding on rodents and other mammals, transmitted_by air, transmitted_by direct contact or transmitted_by ingestion of contaminated undercooked food.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/29628173

necrobiosis lipoidica
type: Class
subclass of: skin disease
has db xref: GARD:13040
has db xref: MESH:D009335
has db xref: NCI:C34840
has db xref: SNOMEDCT_US_2023_03_01:201319007
has db xref: UMLS_CUI:C0027538
has OBO namespace: disease_ontology
id: DOID:3486
in subset: DO rare slim
in subset: NCIthesaurus

cellulitis
type: Class
subclass of: skin disease
IAO_0000115: A skin disease where there is a diffuse infection of connective tissue with severe inflammation of dermal and subcutaneous layers of the skin. Cellulitis can be caused by normal skin flora or by exogenous bacteria, and often occurs where the skin has previously been broken: cracks in the skin, cuts, blisters, burns, insect bites, surgical wounds, or sites of intravenous catheter insertion.
has alternative id: DOID:2472
has db xref: ICD10CM:L03.90
has db xref: MESH:D002481
has db xref: NCI:C26715
has db xref: NCI:C34454
has db xref: SNOMEDCT_US_2023_03_01:267833003
has db xref: SNOMEDCT_US_2023_03_01:74276003
has db xref: UMLS_CUI:C0007642
has db xref: UMLS_CUI:C0007646
has OBO namespace: disease_ontology
id: DOID:3488
in subset: NCIthesaurus

Axiom
annotated source: cellulitis
annotated property: IAO_0000115
annotated target: A skin disease where there is a diffuse infection of connective tissue with severe inflammation of dermal and subcutaneous layers of the skin. Cellulitis can be caused by normal skin flora or by exogenous bacteria, and often occurs where the skin has previously been broken: cracks in the skin, cuts, blisters, burns, insect bites, surgical wounds, or sites of intravenous catheter insertion.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Cellulitis

systemic mastocytosis
type: Class
subclass of: mastocytosis
has db xref: GARD:8616
has db xref: ICD10CM:D47.02
has db xref: MESH:D034721
has db xref: NCI:C9235
has db xref: SNOMEDCT_US_2023_03_01:123310005
has db xref: UMLS_CUI:C0221013
has exact synonym: SMCD - systemic mast cell disease
has exact synonym: systemic tissue mast cell disease
has OBO namespace: disease_ontology
id: DOID:349
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Noonan syndrome
type: Class
subclass of: syndrome
IAO_0000115: A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.
has db xref: GARD:10955
has db xref: ICD10CM:Q87.19
has db xref: MESH:D009634
has db xref: MIM:PS163950
has db xref: NCI:C34854
has db xref: ORDO:648
has db xref: SNOMEDCT_US_2023_03_01:88327006
has db xref: UMLS_CUI:C0028326
has exact synonym: Turner's phenotype, karyotype normal
has OBO namespace: disease_ontology
id: DOID:3490
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Noonan syndrome
annotated property: IAO_0000115
annotated target: A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.
type: ECO_0007637
has db xref: url:https://ghr.nlm.nih.gov/condition/noonan-syndrome#definition
has db xref: url:https://rarediseases.info.nih.gov/diseases/10955/noonan-syndrome
has db xref: url:https://research.nhgri.nih.gov/atlas/condition/noonan-syndrome
has db xref: url:https://www.genome.gov/Genetic-Disorders/Noonan-Syndrome

Turner syndrome
type: Class
subclass of: gonadal dysgenesis
IAO_0000115: A gonadal dysgenesis that is characterized by short stature and early loss of ovarian function resulting from ovarian hypofunction or premature ovarian failure and has_material_basis_in one missing or structurally altered X chromosome.
has alternative id: DOID:5448
has db xref: GARD:2540
has db xref: GARD:7831
has db xref: ICD10CM:Q96
has db xref: MESH:D014424
has db xref: NCI:C26900
has db xref: NCI:C34434
has db xref: SNOMEDCT_US_2023_03_01:38804009
has db xref: UMLS_CUI:C0041408
has db xref: UMLS_CUI:C1527168
has exact synonym: Bonnevie-Ullrich syndrome
has exact synonym: Gonadal dysgenesis - Turner
has exact synonym: Karyotype 45, X
has exact synonym: Monosomy X
has exact synonym: XO syndrome
has exact synonym: monosomy X syndrome
has OBO namespace: disease_ontology
id: DOID:3491
in subset: DO rare slim
in subset: NCIthesaurus
comment: No OMIM mapping, confirmed by DO. [LS].

Axiom
annotated source: Turner syndrome
annotated property: IAO_0000115
annotated target: A gonadal dysgenesis that is characterized by short stature and early loss of ovarian function resulting from ovarian hypofunction or premature ovarian failure and has_material_basis_in one missing or structurally altered X chromosome.
has db xref: url:https://ghr.nlm.nih.gov/condition/turner-syndrome
has db xref: url:https://rarediseases.org/rare-diseases/turner-syndrome/
has db xref: url:https://research.nhgri.nih.gov/atlas/condition/turner-syndrome
has db xref: url:https://www.genome.gov/Genetic-Disorders/Turner-Syndrome

mixed connective tissue disease
type: Class
subclass of: DOID 854
IAO_0000115: A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen.
has db xref: GARD:7051
has db xref: ICD10CM:M35.1
has db xref: MESH:D008947
has db xref: NCI:C84892
has db xref: SNOMEDCT_US_2023_03_01:33110008
has db xref: UMLS_CUI:C0026272
has exact synonym: Connective tissue disease overlap syndrome
has exact synonym: mixed collagen vascular disease
has OBO namespace: disease_ontology
id: DOID:3492
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: mixed connective tissue disease
annotated property: IAO_0000115
annotated target: A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen.
type: ECO_0007637
has db xref: url:http://www.merckmanuals.com/professional/sec04/ch032/ch032c.html

signet ring cell adenocarcinoma
type: Class
subclass of: adenocarcinoma
IAO_0000115: An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which have signet ring appearance.
has db xref: MESH:D018279
has db xref: NCI:C3774
has db xref: SNOMEDCT_US_2023_03_01:189701002
has db xref: UMLS_CUI:C0206696
has exact synonym: Signet ring carcinoma
has exact synonym: Signet ring cell carcinoma
has OBO namespace: disease_ontology
id: DOID:3493
in subset: NCIthesaurus

Axiom
annotated source: signet ring cell adenocarcinoma
annotated property: IAO_0000115
annotated target: An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which have signet ring appearance.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Signet_ring_cell_carcinoma

bile duct signet ring cell carcinoma
type: Class
subclass of: DOID 4897
has db xref: NCI:C5776
has db xref: UMLS_CUI:C0861859
has OBO namespace: disease_ontology
id: DOID:3494
in subset: NCIthesaurus

extrahepatic bile duct adenocarcinoma
type: Class
subclass of: DOID 4682
IAO_0000115: An extrahepatic bile duct carcinoma that derives_from epithelial cells of glandular origin.
has db xref: NCI:C7975
has db xref: UMLS_CUI:C0279659
has exact synonym: adenocarcinoma of extrahepatic bile duct
has OBO namespace: disease_ontology
has related synonym: adenocarcinoma of the extrahepatic bile duct
id: DOID:3495
in subset: NCIthesaurus

Axiom
annotated source: extrahepatic bile duct adenocarcinoma
annotated property: IAO_0000115
annotated target: An extrahepatic bile duct carcinoma that derives_from epithelial cells of glandular origin.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Adenocarcinoma

pancreatic signet ring cell adenocarcinoma
type: Class
subclass of: pancreatic ductal adenocarcinoma
has db xref: NCI:C5720
has db xref: UMLS_CUI:C1335317
has exact synonym: Signet Ring cell carcinoma of pancreas
has exact synonym: pancreatic signet ring cell carcinoma
has OBO namespace: disease_ontology
id: DOID:3497
in subset: NCIthesaurus

pancreatic ductal adenocarcinoma
type: Class
subclass of: pancreatic adenocarcinoma
IAO_0000115: A pancreatic adenocarcinoma that derives_from pancreatic duct cells.
has db xref: NCI:C9120
has db xref: SNOMEDCT_US_2023_03_01:792907004
has db xref: UMLS_CUI:C1335302
has exact synonym: ductal adenocarcinoma of the pancreas
has OBO namespace: disease_ontology
id: DOID:3498
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: pancreatic ductal adenocarcinoma
annotated property: IAO_0000115
annotated target: A pancreatic adenocarcinoma that derives_from pancreatic duct cells.
type: ECO_0007638
has db xref: url:http://cancergenome.nih.gov/cancersselected/PancreaticDuctalAdenocarcinoma
has db xref: url:http://en.wikipedia.org/wiki/Pancreatic_cancer

gallbladder signet ring cell adenocarcinoma
type: Class
subclass of: gallbladder adenocarcinoma
has db xref: NCI:C5745
has db xref: UMLS_CUI:C1333758
has exact synonym: Signet Ring cell carcinoma of the gallbladder
has OBO namespace: disease_ontology
id: DOID:3499
in subset: NCIthesaurus

mastocytosis
type: Class
subclass of: DOID 74
has db xref: GARD:6987
has db xref: ICD10CM:D47.09
has db xref: MESH:D008415
has db xref: MIM:154800
has db xref: NCI:C84269
has db xref: SNOMEDCT_US_2023_03_01:78745000
has db xref: UMLS_CUI:C0024899
has exact synonym: mast cell hyperplasia
has OBO namespace: disease_ontology
id: DOID:350
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

gallbladder adenocarcinoma
type: Class
subclass of: DOID 4948
IAO_0000115: A gallbladder carcinoma that derives_from epithelial cells of glandular origin.
has db xref: NCI:C9166
has db xref: UMLS_CUI:C0279651
has exact synonym: adenocarcinoma of the gallbladder
has OBO namespace: disease_ontology
id: DOID:3500
in subset: NCIthesaurus

Axiom
annotated source: gallbladder adenocarcinoma
annotated property: IAO_0000115
annotated target: A gallbladder carcinoma that derives_from epithelial cells of glandular origin.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Adenocarcinoma

ampullary signet ring cell adenocarcinoma
type: Class
subclass of: ampulla of Vater adenocarcinoma
has db xref: NCI:C6656
has db xref: UMLS_CUI:C1332249
has exact synonym: ampullary signet ring cell carcinoma
has OBO namespace: disease_ontology
id: DOID:3501
in subset: NCIthesaurus

ampulla of Vater adenocarcinoma
type: Class
subclass of: DOID 4932
IAO_0000115: An ampulla of Vater carcinoma that derives_from epithelial cells of glandular origin.
has db xref: NCI:C6650
has db xref: UMLS_CUI:C1332243
has exact synonym: ampullary adenocarcinoma
has OBO namespace: disease_ontology
has related synonym: adenocarcinoma of ampulla of vater
id: DOID:3502
in subset: NCIthesaurus

Axiom
annotated source: ampulla of Vater adenocarcinoma
annotated property: IAO_0000115
annotated target: An ampulla of Vater carcinoma that derives_from epithelial cells of glandular origin.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Adenocarcinoma

breast signet ring cell adenocarcinoma
type: Class
subclass of: breast adenocarcinoma
IAO_0000115: A breast adenocarcinoma that is characterized by the presence of numerous cells containing intracellular mucin, without large amounts of extracellular mucins.
has db xref: NCI:C5175
has db xref: UMLS_CUI:C1335964
has exact synonym: Mammary Signet Ring cell carcinoma
has OBO namespace: disease_ontology
has related synonym: signet ring cell carcinoma of breast
id: DOID:3503
in subset: NCIthesaurus

Axiom
annotated source: breast signet ring cell adenocarcinoma
annotated property: IAO_0000115
annotated target: A breast adenocarcinoma that is characterized by the presence of numerous cells containing intracellular mucin, without large amounts of extracellular mucins.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751374/

prostate signet ring cell adenocarcinoma
type: Class
subclass of: prostate adenocarcinoma
has db xref: NCI:C5535
has db xref: UMLS_CUI:C1335520
has exact synonym: Signet Ring cell carcinoma of prostate
has exact synonym: prostate signet ring cell carcinoma
has OBO namespace: disease_ontology
id: DOID:3504
in subset: NCIthesaurus

adult fibrosarcoma
type: Class
subclass of: fibrosarcoma
has db xref: NCI:C7809
has db xref: UMLS_CUI:C0278595
has OBO namespace: disease_ontology
id: DOID:3516
in subset: NCIthesaurus

conventional fibrosarcoma
type: Class
subclass of: fibrosarcoma
has db xref: NCI:C9429
has db xref: UMLS_CUI:C1333156
has OBO namespace: disease_ontology
id: DOID:3517
in subset: NCIthesaurus

childhood fibrosarcoma
type: Class
subclass of: fibrosarcoma
has db xref: NCI:C8088
has db xref: UMLS_CUI:C0279981
has exact synonym: pediatric fibrosarcoma
has OBO namespace: disease_ontology
id: DOID:3520
in subset: DO cancer slim
in subset: DO childhood cancer slim
in subset: NCIthesaurus

lateral medullary syndrome
type: Class
subclass of: DOID 6713
IAO_0000115: A brain stem infarction that is characterized by hoarseness, dizziness, nausea, located_in the lateral part of the medulla oblongata that develops from a blockage in the posterior inferior cerebellar artery or one of its branches or of the vertebral artery, has_symptom vertigo, has_symptom ipsilateral cerebellar signs, has_symptom contralateral sensory deficits of limbs and torso, has_symptom ipsilateral sensory deficits of face, has_symptom laryngeal, pharyngeal, and palatal hemiparalysis, has_symptom ipsilateral Horner's syndrome.
has db xref: ICD10CM:G46.3
has db xref: MESH:D014854
has db xref: NCI:C84807
has db xref: SNOMEDCT_US_2023_03_01:78569004
has db xref: UMLS_CUI:C0043019
has exact synonym: Posterior inferior cerebellar artery syndrome
has exact synonym: Wallenberg syndrome
has OBO namespace: disease_ontology
id: DOID:3522
in subset: NCIthesaurus

Axiom
annotated source: lateral medullary syndrome
annotated property: IAO_0000115
annotated target: A brain stem infarction that is characterized by hoarseness, dizziness, nausea, located_in the lateral part of the medulla oblongata that develops from a blockage in the posterior inferior cerebellar artery or one of its branches or of the vertebral artery, has_symptom vertigo, has_symptom ipsilateral cerebellar signs, has_symptom contralateral sensory deficits of limbs and torso, has_symptom ipsilateral sensory deficits of face, has_symptom laryngeal, pharyngeal, and palatal hemiparalysis, has_symptom ipsilateral Horner's syndrome.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Lateral_medullary_syndrome

cerebral infarction
type: Class
subclass of: DOID 6713
IAO_0000115: A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.
has db xref: ICD10CM:I63
has db xref: MESH:D002544
has db xref: MIM:601367
has db xref: NCI:C50486
has db xref: SNOMEDCT_US_2023_03_01:195188006
has db xref: UMLS_CUI:C0007785
has exact synonym: Cerebral infarct
has OBO namespace: disease_ontology
id: DOID:3526
in subset: NCIthesaurus

Axiom
annotated source: cerebral infarction
annotated property: IAO_0000115
annotated target: A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Cerebral_infarction

congenital myopathy 1A
type: Class
subclass of: myopathy
IAO_0000115: A congenital myopathy that is characterized by muscle weakness primarily affecting the proximal muscles of the lower limbs beginning in infancy or early childhood, although later onset of symptoms has been reported and that has_material_basis_in heterozygous mutation in the ryanodine receptor-1 gene (RYR1) on chromosome 19q13. Heterozygous mutation in the RYR1 gene also causes susceptibility to malignant hyperthermia-1 (MHS1), patients with CMYP1A are at risk for MHS. Biallelic mutations in the RYR1 gene cause autosomal recessive CMYP1B, which shows overlapping features, but is typically more severe.
has db xref: GARD:6014
has db xref: ICD10CM:G71.29
has db xref: MESH:D020512
has db xref: MIM:117000
has db xref: NCI:C83010
has db xref: ORDO:597
has db xref: SNOMEDCT_US_2023_03_01:43152001
has db xref: UMLS_CUI:C0751951
has exact synonym: autosomal dominant congenital myopathy 1A
has exact synonym: central core disease
has exact synonym: central core myopathy
has OBO namespace: disease_ontology
id: DOID:3529
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: congenital myopathy 1A
annotated property: IAO_0000115
annotated target: A congenital myopathy that is characterized by muscle weakness primarily affecting the proximal muscles of the lower limbs beginning in infancy or early childhood, although later onset of symptoms has been reported and that has_material_basis_in heterozygous mutation in the ryanodine receptor-1 gene (RYR1) on chromosome 19q13. Heterozygous mutation in the RYR1 gene also causes susceptibility to malignant hyperthermia-1 (MHS1), patients with CMYP1A are at risk for MHS. Biallelic mutations in the RYR1 gene cause autosomal recessive CMYP1B, which shows overlapping features, but is typically more severe.
has db xref: url:https://medlineplus.gov/genetics/condition/central-core-disease/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/23553484/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/34627702/

Lafora disease
type: Class
subclass of: DOID 891
IAO_0000115: A progressive myoclonus epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations, and progressive neurological decline with onset between 8 and 18 years of age that has_material_basis_in homozygous or compound heterozygous mutation in either NHLRC1 on chromosome 6p22.3 or EPM2A on chromosome 6q24.3.
has db xref: GARD:8214
has db xref: MESH:D020192
has db xref: MIM:PS254780
has db xref: NCI:C84804
has db xref: SNOMEDCT_US_2023_03_01:230425004
has db xref: UMLS_CUI:C0751783
has exact synonym: Lafora Progressive Myoclonic Epilepsy
has exact synonym: Lafora's disease
has exact synonym: MYOCLONIC EPILEPSY OF LAFORA
has exact synonym: progressive myoclonic epilepsy 2
has OBO namespace: disease_ontology
id: DOID:3534
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Lafora disease
annotated property: IAO_0000115
annotated target: A progressive myoclonus epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations, and progressive neurological decline with onset between 8 and 18 years of age that has_material_basis_in homozygous or compound heterozygous mutation in either NHLRC1 on chromosome 6p22.3 or EPM2A on chromosome 6q24.3.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/19267391
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/19469843

Unverricht-Lundborg syndrome
type: Class
subclass of: DOID 891
IAO_0000115: A progressive myoclonus epilepsy characterized by onset between 6 and 13 years of age of action- and stimulus-sensitive myoclonus, tonic-clonic seizures with ataxia, and a mild cognitive decline.
has db xref: GARD:3876
has db xref: MESH:D020194
has db xref: NCI:C179710
has db xref: SNOMEDCT_US_2023_03_01:192847001
has db xref: UMLS_CUI:C0751785
has exact synonym: Unverricht - Lundborg disease
has exact synonym: Unverricht's disease
has exact synonym: Unverricht-Lundborg disease
has OBO namespace: disease_ontology
id: DOID:3535
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: Unverricht-Lundborg syndrome
annotated property: IAO_0000115
annotated target: A progressive myoclonus epilepsy characterized by onset between 6 and 13 years of age of action- and stimulus-sensitive myoclonus, tonic-clonic seizures with ataxia, and a mild cognitive decline.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/19469843

choroid plexus cancer
type: Class
subclass of: cerebral ventricle cancer
IAO_0000115: A cerebral ventricle cancer that is located_in the plexus located_in the ventricles of the brain.
has db xref: MESH:D016545
has db xref: NCI:C3473
has db xref: SNOMEDCT_US_2023_03_01:254942002
has db xref: UMLS_CUI:C0085138
has exact synonym: tumor of choroid plexus
has exact synonym: tumor of the Choroid Plexus
has OBO namespace: disease_ontology
has related synonym: choroid plexus neoplasm
id: DOID:3540
in subset: NCIthesaurus

Axiom
annotated source: choroid plexus cancer
annotated property: IAO_0000115
annotated target: A cerebral ventricle cancer that is located_in the plexus located_in the ventricles of the brain.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Choroid_plexus

cerebral ventricle cancer
type: Class
subclass of: cerebrum cancer
IAO_0000115: A cerebrum cancer that is located_in the cerebral ventricles.
has alternative id: DOID:10856
has db xref: GARD:6025
has db xref: ICD10CM:C71.5
has db xref: ICD9CM:191.5
has db xref: MESH:D002551
has db xref: NCI:C2937
has db xref: SNOMEDCT_US_2023_03_01:126958000
has db xref: SNOMEDCT_US_2023_03_01:363471001
has db xref: UMLS_CUI:C0007798
has db xref: UMLS_CUI:C0346906
has exact synonym: Intraventricular tumor of brain
has exact synonym: cerebral ventricle neoplasm
has OBO namespace: disease_ontology
id: DOID:3541
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: cerebral ventricle cancer
annotated property: IAO_0000115
annotated target: A cerebrum cancer that is located_in the cerebral ventricles.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Ventricular_system

adult choroid plexus cancer
type: Class
subclass of: choroid plexus cancer
has db xref: NCI:C8568
has db xref: UMLS_CUI:C0796430
has exact synonym: neoplasm of the adult Choroid Plexus
has OBO namespace: disease_ontology
has related synonym: adult choroid plexus tumor
id: DOID:3542
in subset: NCIthesaurus

atypical choroid plexus papilloma
type: Class
subclass of: organ system benign neoplasm
has db xref: ICDO:9390/1
has db xref: NCI:C53686
has db xref: SNOMEDCT_US_2023_03_01:1156470000
has db xref: UMLS_CUI:C1266176
has OBO namespace: disease_ontology
id: DOID:3544
in subset: DO cancer slim
in subset: NCIthesaurus

childhood choroid plexus cancer
type: Class
subclass of: choroid plexus cancer
has db xref: NCI:C42080
has db xref: UMLS_CUI:C0280623
has OBO namespace: disease_ontology
has related synonym: childhood choroid plexus neoplasm
id: DOID:3545
in subset: DO cancer slim
in subset: DO childhood cancer slim
in subset: NCIthesaurus

mast-cell sarcoma
type: Class
subclass of: cancer
IAO_0000115: A sarcoma that has_material_basis_in mast cells.
has db xref: ICD10CM:C96.22
has db xref: ICD9CM:202.6
has db xref: MESH:D012515
has db xref: NCI:C9348
has db xref: SNOMEDCT_US_2023_03_01:118615008
has db xref: UMLS_CUI:C0036221
has OBO namespace: disease_ontology
id: DOID:355
in subset: NCIthesaurus

Axiom
annotated source: mast-cell sarcoma
annotated property: IAO_0000115
annotated target: A sarcoma that has_material_basis_in mast cells.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/24745684

superior mesenteric artery syndrome
type: Class
subclass of: duodenal obstruction
IAO_0000115: A duodenal obstruction resulting from compression of the duodenum between the aorta and the superior mesenteric artery.
has db xref: GARD:7712
has db xref: MESH:D013478
has db xref: NCI:C85175
has db xref: ORDO:622099
has db xref: SNOMEDCT_US_2023_03_01:24988007
has db xref: UMLS_CUI:C0038828
has exact synonym: Wilkie's syndrome
has OBO namespace: disease_ontology
id: DOID:3557
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: superior mesenteric artery syndrome
annotated property: IAO_0000115
annotated target: A duodenal obstruction resulting from compression of the duodenum between the aorta and the superior mesenteric artery.
has db xref: url:https://rarediseases.org/rare-diseases/superior-mesenteric-artery-syndrome/
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK482209/

duodenal obstruction
type: Class
subclass of: DOID 5295
has db xref: ICD10CM:K31.5
has db xref: MESH:D004380
has db xref: NCI:C79548
has db xref: SNOMEDCT_US_2023_03_01:95532008
has db xref: UMLS_CUI:C0013292
has OBO namespace: disease_ontology
id: DOID:3558
in subset: NCIthesaurus

pseudomyxoma peritonei
type: Class
subclass of: appendix cancer
IAO_0000115: An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis.
has db xref: GARD:7488
has db xref: ICDO:8480/6
has db xref: MESH:D011553
has db xref: NCI:C3345
has db xref: SNOMEDCT_US_2023_03_01:307601000
has db xref: UMLS_CUI:C0033822
has exact synonym: mucinous Ascites
has OBO namespace: disease_ontology
id: DOID:3559
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: pseudomyxoma peritonei
annotated property: IAO_0000115
annotated target: An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007638
type: ECO_0007641
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/Pseudomyxoma_peritonei
has db xref: url:http://www.cancer.gov/dictionary?CdrID=44256
has db xref: url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/843/viewAbstract
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/14567019

meningioma
type: Class
subclass of: central nervous system cancer
IAO_0000115: A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges.
has alternative id: DOID:1137
has alternative id: DOID:3554
has alternative id: DOID:3567
has alternative id: DOID:4750
has db xref: GARD:7015
has db xref: ICD10CM:D32.9
has db xref: ICDO:9530/0
has db xref: MESH:D008579
has db xref: NCI:C3230
has db xref: NCI:C6971
has db xref: SNOMEDCT_US_2023_03_01:269643009
has db xref: UMLS_CUI:C0025286
has db xref: UMLS_CUI:C1334698
has exact synonym: meningeal neoplasm
has exact synonym: meningothelial cell tumor
has exact synonym: neoplasm of the meninges
has exact synonym: primary Meningeal tumor
has OBO namespace: disease_ontology
id: DOID:3565
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim

Axiom
annotated source: meningioma
annotated property: IAO_0000115
annotated target: A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Meningioma

liver cancer
type: Class
subclass of: gastrointestinal system cancer
IAO_0000115: A hepatobiliary system cancer that is located_in the liver.
has alternative id: DOID:12300
has alternative id: DOID:269
has alternative id: DOID:7330
has alternative id: DOID:915
has alternative id: DOID:919
has db xref: ICD10CM:C22.0
has db xref: ICD10CM:C22.9
has db xref: ICD9CM:155.0
has db xref: ICD9CM:155.2
has db xref: MESH:D008113
has db xref: NCI:C34803
has db xref: NCI:C7692
has db xref: SNOMEDCT_US_2023_03_01:126851005
has db xref: SNOMEDCT_US_2023_03_01:187771009
has db xref: SNOMEDCT_US_2023_03_01:93870000
has db xref: UMLS_CUI:C0023903
has db xref: UMLS_CUI:C0024620
has db xref: UMLS_CUI:C0345904
has db xref: UMLS_CUI:C0854795
has exact synonym: Ca liver - primary
has exact synonym: Resectable malignant neoplasm of Liver
has exact synonym: hepatic cancer
has exact synonym: hepatic neoplasm
has exact synonym: malignant hepato-biliary neoplasm
has exact synonym: malignant neoplasm of liver
has exact synonym: malignant neoplasm of liver, not specified as primary or secondary
has exact synonym: malignant neoplasm of liver, primary
has exact synonym: malignant tumor of liver
has exact synonym: neoplasm of liver
has exact synonym: non-resectable primary hepatic malignant neoplasm
has exact synonym: primary liver cancer
has exact synonym: primary malignant neoplasm of liver
has exact synonym: resectable malignant neoplasm of the liver
has OBO namespace: disease_ontology
id: DOID:3571
in subset: DO CFDE slim
in subset: DO RAD slim
in subset: DO cancer slim
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim

Axiom
annotated source: liver cancer
annotated property: IAO_0000115
annotated target: A hepatobiliary system cancer that is located_in the liver.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Liver

Sertoli cell tumor
type: Class
subclass of: sex cord-gonadal stromal tumor
IAO_0000115: A sex cord-gonadal stromal tumor characterized by excessive proliferation of Sertoli cells.
has alternative id: DOID:0050617
has db xref: ICDO:8640/1
has db xref: MESH:D012707
has db xref: NCI:C39976
has db xref: SNOMEDCT_US_2023_03_01:128857001
has db xref: UMLS_CUI:C0036769
has exact synonym: tubular androblastoma
has OBO namespace: disease_ontology
id: DOID:3577
in subset: NCIthesaurus

Axiom
annotated source: Sertoli cell tumor
annotated property: IAO_0000115
annotated target: A sex cord-gonadal stromal tumor characterized by excessive proliferation of Sertoli cells.
has db xref: url:https://en.wikipedia.org/wiki/Sertoli_cell_tumour

ovarian gonadoblastoma
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: An ovarian benign neoplasm that is has_material_basis_in a mixture of gonadal elements.
has db xref: NCI:C39985
has db xref: SNOMEDCT_US_2023_03_01:716594002
has db xref: UMLS_CUI:C1518716
has OBO namespace: disease_ontology
id: DOID:3578
in subset: NCIthesaurus

Axiom
annotated source: ovarian gonadoblastoma
annotated property: IAO_0000115
annotated target: An ovarian benign neoplasm that is has_material_basis_in a mixture of gonadal elements.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/21879333

testicular gonadoblastoma
type: Class
subclass of: organ system benign neoplasm
has db xref: NCI:C39911
has db xref: UMLS_CUI:C1515283
has OBO namespace: disease_ontology
id: DOID:3579
in subset: NCIthesaurus

gestational trophoblastic neoplasm
type: Class
subclass of: endometrial cancer
has alternative id: DOID:14071
has alternative id: DOID:3598
has db xref: ICD10CM:O01
has db xref: ICD9CM:630
has db xref: MESH:D006828
has db xref: MESH:D031901
has db xref: MIM:231090
has db xref: NCI:C3110
has db xref: NCI:C4699
has db xref: NCI:C7887
has db xref: SNOMEDCT_US_2023_03_01:156085008
has db xref: SNOMEDCT_US_2023_03_01:417475006
has db xref: UMLS_CUI:C0020217
has db xref: UMLS_CUI:C0278796
has db xref: UMLS_CUI:C1135868
has exact synonym: gestational trophoblastic neoplasia
has exact synonym: hydatidiform mole
has exact synonym: molar pregnancy
has OBO namespace: disease_ontology
id: DOID:3590
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

epithelioid trophoblastic tumor
type: Class
subclass of: cervical cancer
has db xref: NCI:C6900
has db xref: SNOMEDCT_US_2023_03_01:128767001
has db xref: UMLS_CUI:C1266159
has OBO namespace: disease_ontology
id: DOID:3593
in subset: NCIthesaurus

choriocarcinoma
type: Class
subclass of: placenta cancer
IAO_0000115: A placenta cancer that has_material_basis_in trophoblastic cells.
has db xref: GARD:6059
has db xref: ICD10CM:C58
has db xref: ICDO:9100/3
has db xref: MESH:D002822
has db xref: NCI:C2948
has db xref: SNOMEDCT_US_2023_03_01:189444004
has db xref: UMLS_CUI:C0008497
has exact synonym: Chorioepithelioma
has OBO namespace: disease_ontology
id: DOID:3594
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: choriocarcinoma
annotated property: IAO_0000115
annotated target: A placenta cancer that has_material_basis_in trophoblastic cells.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Choriocarcinoma

placental site trophoblastic tumor
type: Class
subclass of: choriocarcinoma
IAO_0000115: A choriocarcinoma that is characterized by low beta-hCG levels and arises from neoplastic transformation of intermediate trophoblastic cells.
has db xref: ICDO:9104/1
has db xref: MESH:D018245
has db xref: NCI:C3757
has db xref: SNOMEDCT_US_2023_03_01:75320001
has db xref: UMLS_CUI:C0206666
has exact synonym: Placental-Site Gestational Trophoblastic neoplasm
has exact synonym: placental site trophoblastic tumour
has OBO namespace: disease_ontology
id: DOID:3596
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: placental site trophoblastic tumor
annotated property: IAO_0000115
annotated target: A choriocarcinoma that is characterized by low beta-hCG levels and arises from neoplastic transformation of intermediate trophoblastic cells.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/14614893

toxic encephalopathy
type: Class
subclass of: DOID 863
IAO_0000115: A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems.
has db xref: MESH:D020258
has db xref: NCI:C27961
has db xref: SNOMEDCT_US_2023_03_01:19466003
has db xref: UMLS_CUI:C0235032
has exact synonym: neurotoxicity
has exact synonym: neurotoxicity syndrome
has OBO namespace: disease_ontology
id: DOID:3602
in subset: NCIthesaurus

Axiom
annotated source: toxic encephalopathy
annotated property: IAO_0000115
annotated target: A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems.
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3521923/
has db xref: url:https://en.wikipedia.org/wiki/Toxic_encephalopathy

mucinous cystadenocarcinoma
type: Class
subclass of: cystadenocarcinoma
IAO_0000115: A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells.
has db xref: ICDO:8470/3
has db xref: MESH:D018282
has db xref: NCI:C3776
has db xref: SNOMEDCT_US_2023_03_01:79143006
has db xref: UMLS_CUI:C0206699
has exact synonym: Pseudomucinous cystadenocarcinoma
has OBO namespace: disease_ontology
id: DOID:3603
in subset: NCIthesaurus

Axiom
annotated source: mucinous cystadenocarcinoma
annotated property: IAO_0000115
annotated target: A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells.
has db xref: url:https://www.thehealthboard.com/what-is-a-mucinous-cystadenocarcinoma.htm

ovarian mucinous cystadenocarcinoma
type: Class
subclass of: ovarian cystadenocarcinoma
IAO_0000115: An ovarian cystadenocarcinoma that is characterized by the presence of mucin.
has db xref: NCI:C4026
has db xref: SNOMEDCT_US_2023_03_01:254851009
has db xref: UMLS_CUI:C0279665
has exact synonym: mucinous cystadenocarcinoma of ovary
has OBO namespace: disease_ontology
id: DOID:3604
in subset: NCIthesaurus

Axiom
annotated source: ovarian mucinous cystadenocarcinoma
annotated property: IAO_0000115
annotated target: An ovarian cystadenocarcinoma that is characterized by the presence of mucin.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Ovarian_mucinous_tumor

ovarian cystadenocarcinoma
type: Class
subclass of: ovary adenocarcinoma
IAO_0000115: An ovary adenocarcinoma that is characterized by the presence of cysts or cystic spaces.
has db xref: NCI:C5228
has db xref: SNOMEDCT_US_2023_03_01:314191009
has db xref: UMLS_CUI:C1096638
has exact synonym: cystadenocarcinoma of ovary
has exact synonym: cystadenocarcinoma of the Ovary
has OBO namespace: disease_ontology
id: DOID:3605
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: ovarian cystadenocarcinoma
annotated property: IAO_0000115
annotated target: An ovary adenocarcinoma that is characterized by the presence of cysts or cystic spaces.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/2196390/

ovarian mucinous adenocarcinoma
type: Class
subclass of: ovary adenocarcinoma
IAO_0000115: An ovary adenocarcinoma that is characterized by the presence of mucin.
has db xref: NCI:C5243
has db xref: UMLS_CUI:C1335167
has exact synonym: mucinous carcinoma of Ovary
has OBO namespace: disease_ontology
id: DOID:3606
in subset: NCIthesaurus

Axiom
annotated source: ovarian mucinous adenocarcinoma
annotated property: IAO_0000115
annotated target: An ovary adenocarcinoma that is characterized by the presence of mucin.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/24487473

appendix mucinous cystadenocarcinoma
type: Class
subclass of: appendix adenocarcinoma
has db xref: NCI:C5511
has db xref: UMLS_CUI:C1096639
has exact synonym: Colloidal cystadenocarcinoma of the appendix
has OBO namespace: disease_ontology
id: DOID:3607
in subset: NCIthesaurus

appendix adenocarcinoma
type: Class
subclass of: DOID 4902
IAO_0000115: An appendix carcinoma that derives_from epithelial cells of glandular origin.
has db xref: NCI:C7718
has db xref: SNOMEDCT_US_2023_03_01:413445002
has db xref: UMLS_CUI:C0238003
has exact synonym: Appendiceal adenocarcinoma
has OBO namespace: disease_ontology
id: DOID:3608
in subset: NCIthesaurus

Axiom
annotated source: appendix adenocarcinoma
annotated property: IAO_0000115
annotated target: An appendix carcinoma that derives_from epithelial cells of glandular origin.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Adenocarcinoma

breast mucinous cystadenocarcinoma
type: Class
subclass of: breast mucinous carcinoma
IAO_0000115: A breast mucinous carcinoma that is characterized by both intracellular and extracellular mucin and cystic spaces are lined by tall columnar cells that contain profuse extracellular mucin.
has db xref: NCI:C40354
has db xref: UMLS_CUI:C1511318
has OBO namespace: disease_ontology
id: DOID:3609
in subset: NCIthesaurus

Axiom
annotated source: breast mucinous cystadenocarcinoma
annotated property: IAO_0000115
annotated target: A breast mucinous carcinoma that is characterized by both intracellular and extracellular mucin and cystic spaces are lined by tall columnar cells that contain profuse extracellular mucin.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5643878/

cervix endometriosis
type: Class
subclass of: cervix disease
IAO_0000115: A cervix disease that is characterized by the growth endometrial tissue that is located on the cervix.
has db xref: ICD10CM:N80.0
has db xref: NCI:C27623
has db xref: SNOMEDCT_US_2023_03_01:61640006
has db xref: UMLS_CUI:C0269107
has exact synonym: Endometriosis of cervix
has exact synonym: cervical Endometriosis
has OBO namespace: disease_ontology
id: DOID:361
in subset: NCIthesaurus

Axiom
annotated source: cervix endometriosis
annotated property: IAO_0000115
annotated target: A cervix disease that is characterized by the growth endometrial tissue that is located on the cervix.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/21890095

breast mucinous carcinoma
type: Class
subclass of: breast adenocarcinoma
IAO_0000115: A breast adenocarcinoma in which at least one half of the tumor volume is extracellular mucin throughout.
has db xref: NCI:C9131
has db xref: SNOMEDCT_US_2023_03_01:444712000
has db xref: UMLS_CUI:C1334807
has exact synonym: Invasive mucinous breast carcinoma
has OBO namespace: disease_ontology
has related synonym: mucinous carcinoma of breast
id: DOID:3610
in subset: NCIthesaurus

Axiom
annotated source: breast mucinous carcinoma
annotated property: IAO_0000115
annotated target: A breast adenocarcinoma in which at least one half of the tumor volume is extracellular mucin throughout.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/24305754

retinitis
type: Class
subclass of: DOID 5679
has db xref: ICD10CM:H30.9
has db xref: MESH:D012173
has db xref: NCI:C115993
has db xref: SNOMEDCT_US_2023_03_01:35426003
has db xref: UMLS_CUI:C0035333
has OBO namespace: disease_ontology
id: DOID:3612
in subset: NCIthesaurus

Canavan disease
type: Class
subclass of: leukodystrophy
IAO_0000115: A leukodystrophy characterized by onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average that has_material_basis_in homozygous or compound heterozygous mutation in ASPA gene encoding aspartoacylase on chromosome 17p13.
has db xref: GARD:5984
has db xref: MESH:D017825
has db xref: MIM:271900
has db xref: NCI:C84611
has db xref: SNOMEDCT_US_2023_03_01:80544005
has db xref: UMLS_CUI:C0206307
has exact synonym: ACY2 DEFICIENCY
has exact synonym: AMINOACYLASE 2 DEFICIENCY
has exact synonym: ASP DEFICIENCY
has exact synonym: ASPA DEFICIENCY
has exact synonym: ASPARTOACYLASE DEFICIENCY
has exact synonym: CANAVAN-VAN BOGAERT-BERTRAND DISEASE
has exact synonym: Spongy degeneration of central nervous system
has OBO namespace: disease_ontology
id: DOID:3613
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Canavan disease
annotated property: IAO_0000115
annotated target: A leukodystrophy characterized by onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average that has_material_basis_in homozygous or compound heterozygous mutation in ASPA gene encoding aspartoacylase on chromosome 17p13.
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/2512436/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/3354621/

Kallmann syndrome
type: Class
subclass of: hypogonadism
IAO_0000115: A hypogonadotropic hypogonadism with a defective sense of smell (anosmia or hyposmia).
has db xref: GARD:10771
has db xref: ICD10CM:E23.0
has db xref: MESH:D017436
has db xref: NCI:C75479
has db xref: ORDO:478
has db xref: SNOMEDCT_US_2023_03_01:190559001
has db xref: UMLS_CUI:C0162809
has exact synonym: Hypogonadism with anosmia
has exact synonym: Kallman syndrome
has exact synonym: Kallman's syndrome
has exact synonym: familial hypogonadism with anosmia
has OBO namespace: disease_ontology
id: DOID:3614
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Kallmann syndrome
annotated property: IAO_0000115
annotated target: A hypogonadotropic hypogonadism with a defective sense of smell (anosmia or hyposmia).
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/26194704

infiltrating angiolipoma
type: Class
subclass of: angiolipoma
IAO_0000115: An angiolipoma that is characterized by prominent vascularity that invades the surrounding deep tissue.
has db xref: NCI:C7449
has db xref: SNOMEDCT_US_2023_03_01:24045002
has db xref: UMLS_CUI:C1305256
has exact synonym: Angiolipoma, infiltrating
has OBO namespace: disease_ontology
id: DOID:3615
in subset: NCIthesaurus

Axiom
annotated source: infiltrating angiolipoma
annotated property: IAO_0000115
annotated target: An angiolipoma that is characterized by prominent vascularity that invades the surrounding deep tissue.
has db xref: url:https://www.spandidos-publications.com/10.3892/ol.2014.2737

angiolipoma
type: Class
subclass of: lipoma
IAO_0000115: A lipoma that is a painful subcutaneous nodule, having all other features of a typical lipoma.
has db xref: ICDO:8861/0
has db xref: MESH:D018206
has db xref: NCI:C3733
has db xref: SNOMEDCT_US_2023_03_01:404057003
has db xref: UMLS_CUI:C0206632
has OBO namespace: disease_ontology
id: DOID:3616
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: angiolipoma
annotated property: IAO_0000115
annotated target: A lipoma that is a painful subcutaneous nodule, having all other features of a typical lipoma.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Angiolipoma

epidural spinal canal angiolipoma
type: Class
subclass of: angiolipoma
has db xref: NCI:C5424
has db xref: UMLS_CUI:C1333416
has exact synonym: Angiolipoma of Extradural Spinal canal
has OBO namespace: disease_ontology
id: DOID:3617
in subset: NCIthesaurus

epidural spinal canal neoplasm
type: Class
subclass of: DOID 5612
has db xref: MESH:D015174
has db xref: NCI:C3019
has db xref: SNOMEDCT_US_2023_03_01:1153337000
has db xref: UMLS_CUI:C0014536
has exact synonym: Extradural tumor
has OBO namespace: disease_ontology
id: DOID:3618
in subset: NCIthesaurus

central nervous system cancer
type: Class
subclass of: nervous system cancer
IAO_0000115: A nervous system cancer that is located_in the central nervous system.
has alternative id: DOID:0060093
has alternative id: DOID:1318
has db xref: EFO:0000326
has db xref: ICD10CM:C72.9
has db xref: MESH:D016543
has db xref: NCI:C4627
has db xref: NCI:C9293
has db xref: SNOMEDCT_US_2023_03_01:126951006
has db xref: SNOMEDCT_US_2023_03_01:93744007
has db xref: UMLS_CUI:C0085136
has db xref: UMLS_CUI:C0348374
has exact synonym: CNS neoplasm
has exact synonym: central nervous system tumor
has exact synonym: central nervous system tumors
has exact synonym: malignant neoplasm of central nervous system
has exact synonym: malignant tumor of CNS
has exact synonym: neoplasm of central nervous system
has OBO namespace: disease_ontology
id: DOID:3620
in subset: NCIthesaurus

Axiom
annotated source: central nervous system cancer
annotated property: IAO_0000115
annotated target: A nervous system cancer that is located_in the central nervous system.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Central_nervous_system

aortic aneurysm
type: Class
subclass of: DOID 520
IAO_0000115: An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size.
has alternative id: DOID:11138
has alternative id: DOID:7682
has alternative id: DOID:7692
has alternative id: DOID:7703
has db xref: ICD10CM:I71.1
has db xref: ICD10CM:I71.3
has db xref: ICD10CM:I71.5
has db xref: ICD10CM:I71.8
has db xref: ICD10CM:I71.9
has db xref: ICD9CM:441.1
has db xref: ICD9CM:441.3
has db xref: ICD9CM:441.5
has db xref: ICD9CM:441.6
has db xref: MESH:D001014
has db xref: MESH:D001019
has db xref: NCI:C26697
has db xref: NCI:C27046
has db xref: NCI:C27198
has db xref: NCI:C27299
has db xref: SNOMEDCT_US_2023_03_01:14336007
has db xref: SNOMEDCT_US_2023_03_01:155419006
has db xref: SNOMEDCT_US_2023_03_01:195265003
has db xref: SNOMEDCT_US_2023_03_01:34365005
has db xref: SNOMEDCT_US_2023_03_01:73067008
has db xref: UMLS_CUI:C0003486
has db xref: UMLS_CUI:C0265010
has db xref: UMLS_CUI:C0265012
has db xref: UMLS_CUI:C0741160
has db xref: UMLS_CUI:C1305122
has exact synonym: ruptured aortic aneurysm
has OBO namespace: disease_ontology
id: DOID:3627
in subset: NCIthesaurus

Axiom
annotated source: aortic aneurysm
annotated property: IAO_0000115
annotated target: An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Aortic_aneurysm

uterine cancer
type: Class
subclass of: female reproductive organ cancer
IAO_0000115: A female reproductive organ cancer that is located_in the uterus.
has alternative id: DOID:4363
has db xref: ICD10CM:C55
has db xref: ICD9CM:179
has db xref: MESH:D014594
has db xref: NCI:C3435
has db xref: NCI:C3552
has db xref: SNOMEDCT_US_2023_03_01:126908007
has db xref: SNOMEDCT_US_2023_03_01:371973000
has db xref: UMLS_CUI:C0042138
has db xref: UMLS_CUI:C0153567
has exact synonym: CA - cancer of uterus
has exact synonym: Tumour of uterus
has exact synonym: malignant neoplasm of uterus
has exact synonym: malignant uterine tumor
has exact synonym: neoplasm of uterus
has exact synonym: uterine tumor
has exact synonym: uterus neoplasm
has OBO namespace: disease_ontology
id: DOID:363
in subset: DO CFDE slim
in subset: DO cancer slim
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim

Axiom
annotated source: uterine cancer
annotated property: IAO_0000115
annotated target: A female reproductive organ cancer that is located_in the uterus.
type: ECO_0007637
type: ECO_0007641
has db xref: url:http://www.cancer.gov/dictionary?CdrID=445094

beta-mannosidosis
type: Class
subclass of: lysosomal storage disease
IAO_0000115: A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism.
has db xref: MESH:D044905
has db xref: MIM:248510
has db xref: NCI:C84596
has db xref: SNOMEDCT_US_2023_03_01:238047006
has db xref: UMLS_CUI:C4048196
has exact synonym: Beta-D-mannosidosis
has exact synonym: beta-mannosidase deficiency
has exact synonym: lysosomal beta-mannosidase deficiency
has OBO namespace: disease_ontology
id: DOID:3633
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: beta-mannosidosis
annotated property: IAO_0000115
annotated target: A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Beta-mannosidosis

congenital myasthenic syndrome
type: Class
subclass of: neuromuscular disease
IAO_0000115: A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic).
has db xref: GARD:11902
has db xref: MESH:D020294
has db xref: MIM:PS601462
has db xref: NCI:C84647
has db xref: ORDO:590
has db xref: SNOMEDCT_US_2023_03_01:230672006
has db xref: UMLS_CUI:C0751882
has OBO namespace: disease_ontology
id: DOID:3635
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: congenital myasthenic syndrome
annotated property: IAO_0000115
annotated target: A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic).
type: ECO_0007636
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Congenital_myasthenic_syndrome
has db xref: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=590

childhood spinal cord tumor
type: Class
subclass of: DOID 5612
has db xref: NCI:C9234
has db xref: UMLS_CUI:C1134515
has exact synonym: childhood Spinal Cord neoplasm
has OBO namespace: disease_ontology
id: DOID:3637
in subset: DO cancer slim
in subset: DO childhood cancer slim
in subset: NCIthesaurus

spinal cord intramedullary teratoma
type: Class
subclass of: DOID 5612
has db xref: NCI:C5428
has db xref: UMLS_CUI:C1334259
has exact synonym: Intramedullary Spinal teratoma
has OBO namespace: disease_ontology
id: DOID:3639
in subset: NCIthesaurus

central nervous system teratoma
type: Class
subclass of: DOID 4439
IAO_0000115: A teratoma that is located_in the central nervous system.
has db xref: NCI:C5441
has db xref: UMLS_CUI:C1332895
has exact synonym: CNS teratoma
has OBO namespace: disease_ontology
id: DOID:3640
in subset: NCIthesaurus

Axiom
annotated source: central nervous system teratoma
annotated property: IAO_0000115
annotated target: A teratoma that is located_in the central nervous system.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/21150046

conus medullaris neoplasm
type: Class
subclass of: DOID 5612
has db xref: NCI:C5443
has db xref: UMLS_CUI:C1333153
has exact synonym: tumor of Conus Medullaris
has OBO namespace: disease_ontology
id: DOID:3641
in subset: NCIthesaurus

empty sella syndrome
type: Class
subclass of: endocrine system disease
has db xref: GARD:6331
has db xref: MESH:D004652
has db xref: NCI:C84686
has db xref: SNOMEDCT_US_2023_03_01:393569006
has db xref: UMLS_CUI:C0014008
has OBO namespace: disease_ontology
id: DOID:3642
in subset: DO rare slim
in subset: NCIthesaurus

sella turcica neoplasm
type: Class
subclass of: skull base cancer
has db xref: NCI:C4944
has db xref: UMLS_CUI:C0748616
has exact synonym: tumor of Sella Turcica
has OBO namespace: disease_ontology
id: DOID:3643
in subset: NCIthesaurus

hypothalamic neoplasm
type: Class
subclass of: supratentorial cancer
has db xref: MESH:D007029
has db xref: NCI:C3129
has db xref: SNOMEDCT_US_2023_03_01:254968009
has db xref: UMLS_CUI:C0020659
has exact synonym: neoplasm of the Hypothalamus
has exact synonym: tumor of hypothalamus
has OBO namespace: disease_ontology
id: DOID:3644
in subset: NCIthesaurus

necrosis of pituitary
type: Class
subclass of: endocrine system disease
has db xref: NCI:C27066
has db xref: SNOMEDCT_US_2023_03_01:59572000
has db xref: UMLS_CUI:C0271558
has exact synonym: Pituitary necrosis
has OBO namespace: disease_ontology
id: DOID:3646
in subset: NCIthesaurus

pyruvate decarboxylase deficiency
type: Class
subclass of: carbohydrate metabolic disorder
IAO_0000115: A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex.
has db xref: GARD:4620
has db xref: GARD:7513
has db xref: ICD10CM:E74.4
has db xref: MESH:D015325
has db xref: MIM:245348
has db xref: MIM:245349
has db xref: MIM:312170
has db xref: MIM:608782
has db xref: MIM:614111
has db xref: NCI:C103968
has db xref: ORDO:79243
has db xref: SNOMEDCT_US_2023_03_01:46683007
has db xref: UMLS_CUI:C0034345
has exact synonym: deficiency of pyruvic dehydrogenase
has exact synonym: pyruvate dehydrogenase complex deficiency disease
has exact synonym: pyruvate dehydrogenase deficiency
has OBO namespace: disease_ontology
id: DOID:3649
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: pyruvate decarboxylase deficiency
annotated property: IAO_0000115
annotated target: A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Pyruvate_dehydrogenase_deficiency
has db xref: url:http://ghr.nlm.nih.gov/condition/pyruvate-dehydrogenase-deficiency
has db xref: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/413/viewAbstract

bladder disease
type: Class
subclass of: urinary system disease
IAO_0000115: A urinary system disease that is located_in the bladder.
has db xref: ICD10CM:N32.9
has db xref: ICD9CM:596.9
has db xref: MESH:D001745
has db xref: NCI:C2900
has db xref: SNOMEDCT_US_2023_03_01:42643001
has db xref: UMLS_CUI:C0005686
has exact synonym: Urinary Bladder Disease
has OBO namespace: disease_ontology
id: DOID:365
in subset: NCIthesaurus

Axiom
annotated source: bladder disease
annotated property: IAO_0000115
annotated target: A urinary system disease that is located_in the bladder.
type: ECO_0007644
has db xref: url:http://www.nlm.nih.gov/medlineplus/bladderdiseases.html

lactic acidosis
type: Class
subclass of: disease of metabolism
IAO_0000115: A metabolic acidosis characterized by buildup of lactate.
has db xref: ICD10CM:E87.20
has db xref: MESH:D000140
has db xref: NCI:C98969
has db xref: SNOMEDCT_US_2023_03_01:91273001
has db xref: UMLS_CUI:C0001125
has OBO namespace: disease_ontology
id: DOID:3650
in subset: NCIthesaurus

Axiom
annotated source: lactic acidosis
annotated property: IAO_0000115
annotated target: A metabolic acidosis characterized by buildup of lactate.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Lactic_acidosis

pyruvate carboxylase deficiency disease
type: Class
subclass of: carbohydrate metabolic disorder
IAO_0000115: A carbohydrate metabolic disorder that is characterized by deficiency of pyruvate carboxylase causing decreased utilization of carbohydrates and toxic accumulation of lactic acid, possibly has_symptom periodic lactate elevations, gastrointestinal upset, neonatal onset of metabolic acidosis, failure to thrive, developmental delay, seizures, death, and has_material_basis_in autosomal recessive inheritance of mutation in the PC gene, which encodes pyruvate carboxylase, a critical protein in the citric acid cycle and in gluconeogenesis.
has db xref: ICD10CM:E74.4
has db xref: MESH:D015324
has db xref: MIM:266150
has db xref: NCI:C85040
has db xref: SNOMEDCT_US_2023_03_01:87694001
has db xref: UMLS_CUI:C0034341
has exact synonym: deficiency of pyruvic carboxylase
has OBO namespace: disease_ontology
id: DOID:3651
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: pyruvate carboxylase deficiency disease
annotated property: IAO_0000115
annotated target: A carbohydrate metabolic disorder that is characterized by deficiency of pyruvate carboxylase causing decreased utilization of carbohydrates and toxic accumulation of lactic acid, possibly has_symptom periodic lactate elevations, gastrointestinal upset, neonatal onset of metabolic acidosis, failure to thrive, developmental delay, seizures, death, and has_material_basis_in autosomal recessive inheritance of mutation in the PC gene, which encodes pyruvate carboxylase, a critical protein in the citric acid cycle and in gluconeogenesis.
type: ECO_0007636
type: ECO_0007637
has db xref: url:http://omim.org/entry/266150
has db xref: url:https://ghr.nlm.nih.gov/condition/pyruvate-carboxylase-deficiency

Leigh disease
type: Class
subclass of: cytochrome-c oxidase deficiency disease
IAO_0000115: A cytochrome-c oxidase deficiency disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity.
has db xref: GARD:6877
has db xref: ICD10CM:G31.82
has db xref: MESH:D007888
has db xref: MIM:256000
has db xref: NCI:C84814
has db xref: ORDO:506
has db xref: SNOMEDCT_US_2023_03_01:29570005
has db xref: UMLS_CUI:C0023264
has exact synonym: Infantile necrotizing encephalomyelopathy
has exact synonym: Leigh syndrome
has exact synonym: juvenile subacute necrotizing encephalomyelopathy
has OBO namespace: disease_ontology
has related synonym: subacute necrotizing encephalomyelopathy
id: DOID:3652
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Leigh disease
annotated property: IAO_0000115
annotated target: A cytochrome-c oxidase deficiency disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Leigh%27s_disease
has db xref: url:http://ghr.nlm.nih.gov/condition/leigh-syndrome
has db xref: url:https://rarediseases.org/rare-diseases/cytochrome-c-oxidase-deficiency/
has db xref: url:https://rarediseases.org/rare-diseases/leigh-syndrome/

sialuria
type: Class
subclass of: lysosomal storage disease
IAO_0000115: A lysosomal storage disease characterized by increased sialic acid in the urine.
has db xref: MESH:D029461
has db xref: MIM:269921
has db xref: MIM:604369
has db xref: NCI:C85067
has db xref: SNOMEDCT_US_2023_03_01:238051008
has db xref: UMLS_CUI:C0342853
has OBO namespace: disease_ontology
id: DOID:3659
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS]. OMIM mapping submitted by NeuroDevNet. [LS].

Axiom
annotated source: sialuria
annotated property: IAO_0000115
annotated target: A lysosomal storage disease characterized by increased sialic acid in the urine.
type: ECO_0007636
type: ECO_0007638
type: ECO_0007646
has db xref: url:http://en.wikipedia.org/wiki/Sialuria
has db xref: url:http://www.ncbi.nlm.nih.gov/books/NBK1164/
has db xref: url:http://www.omim.org/entry/269921

cutaneous mastocytosis
type: Class
subclass of: mastocytosis
has db xref: GARD:7842
has db xref: ICD10CM:D47.01
has db xref: MESH:D034701
has db xref: NCI:C7137
has db xref: SNOMEDCT_US_2023_03_01:703827008
has db xref: UMLS_CUI:C1136033
has exact synonym: CM
has OBO namespace: disease_ontology
id: DOID:3663
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: cutaneous mastocytosis
annotated property: hasExactSynonym
annotated target: CM
has synonym type: OMO_0003012

mast cell neoplasm
type: Class
subclass of: hematologic cancer
IAO_0000115: A hematologic cancer that has_material_basis_in mast cells.
has db xref: ICD10CM:D47.09
has db xref: NCI:C9295
has db xref: SNOMEDCT_US_2023_03_01:127581004
has db xref: UMLS_CUI:C0334664
has exact synonym: Mast cell Proliferative disease
has exact synonym: mast cell tumor
has exact synonym: mastocytoma
has OBO namespace: disease_ontology
id: DOID:3664
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: mast cell neoplasm
annotated property: IAO_0000115
annotated target: A hematologic cancer that has_material_basis_in mast cells.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007641
has db xref: url:http://en.wikipedia.org/wiki/Mastocytoma
has db xref: url:http://www.cancer.gov/dictionary?CdrID=410729

diffuse cutaneous mastocytosis
type: Class
subclass of: cutaneous mastocytosis
has db xref: GARD:12686
has db xref: ICD10CM:D47.01
has db xref: MESH:D034701
has db xref: NCI:C3218
has db xref: SNOMEDCT_US_2023_03_01:703826004
has db xref: UMLS_CUI:C0024901
has OBO namespace: disease_ontology
id: DOID:3665
in subset: DO rare slim
in subset: NCIthesaurus

solitary mastocytoma of the skin
type: Class
subclass of: mast cell neoplasm
IAO_0000115: A mast cell neoplasm that is characterized by collections of mast cells with a single or multiple (usually five or fewer individual) orange-brown to red-brown plaques or nodules ranging from 0.5 to 3.5 cm in diameter.
has db xref: ICD10CM:D47.01
has db xref: MESH:D054705
has db xref: NCI:C7138
has db xref: SNOMEDCT_US_2023_03_01:239147000
has db xref: UMLS_CUI:C0343115
has exact synonym: Solitary Mastocytoma of skin
has exact synonym: Solitary mastocytoma
has exact synonym: cutaneous solitary mastocytoma
has OBO namespace: disease_ontology
id: DOID:3666
in subset: NCIthesaurus

Axiom
annotated source: solitary mastocytoma of the skin
annotated property: IAO_0000115
annotated target: A mast cell neoplasm that is characterized by collections of mast cells with a single or multiple (usually five or fewer individual) orange-brown to red-brown plaques or nodules ranging from 0.5 to 3.5 cm in diameter.
has db xref: url:https://www.sciencedirect.com/science/article/pii/B9781416030317000127

olfactory nerve disease
type: Class
subclass of: DOID 5656
IAO_0000115: A brain disease that is characterized by nerve injury located_in olfactory nerve, occurring as a result of normal aging, trauma, mass lesion or other insult, and has_symptom impaired sense of smell, has_symptom anosmia or loss of smell.
has db xref: ICD10CM:G52.0
has db xref: ICD9CM:352.0
has db xref: MESH:D020431
has db xref: NCI:C27210
has db xref: SNOMEDCT_US_2023_03_01:68982002
has db xref: UMLS_CUI:C0751937
has exact synonym: disorder of 1st nerve
has exact synonym: disorder of olfactory [1st] nerve
has exact synonym: disorder of olfactory nerve
has OBO namespace: disease_ontology
id: DOID:367
in subset: NCIthesaurus

Axiom
annotated source: olfactory nerve disease
annotated property: IAO_0000115
annotated target: A brain disease that is characterized by nerve injury located_in olfactory nerve, occurring as a result of normal aging, trauma, mass lesion or other insult, and has_symptom impaired sense of smell, has_symptom anosmia or loss of smell.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Olfactory_nerve

rhabdoid cancer
type: Class
subclass of: childhood kidney cancer
IAO_0000115: A childhood kidney neoplasm that is located_in the kidney, liver, muscle, heart, lung, soft tissues, skin and central nervous system.
has db xref: GARD:7572
has db xref: MESH:D018335
has db xref: NCI:C3808
has db xref: SNOMEDCT_US_2023_03_01:83118000
has db xref: UMLS_CUI:C0206743
has exact synonym: Rhabdoid sarcoma
has exact synonym: malignant rhabdoid tumour
has OBO namespace: disease_ontology
has related synonym: rhabdoid tumor
id: DOID:3672
in subset: DO cancer slim
in subset: DO childhood cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: rhabdoid cancer
annotated property: IAO_0000115
annotated target: A childhood kidney neoplasm that is located_in the kidney, liver, muscle, heart, lung, soft tissues, skin and central nervous system.
has db xref: url:https://rarediseases.info.nih.gov/diseases/7572/rhabdoid-tumor

kidney rhabdoid cancer
type: Class
subclass of: rhabdoid cancer
IAO_0000115: A embryonal cancer that is located in the kidney.
has db xref: NCI:C8715
has db xref: UMLS_CUI:C0854917
has exact synonym: renal Rhabdoid tumor
has exact synonym: rhabdoid tumor of the kidney
has OBO namespace: disease_ontology
has related synonym: kidney rhabdoid tumor
id: DOID:3674
in subset: DO childhood cancer slim
in subset: NCIthesaurus

Axiom
annotated source: kidney rhabdoid cancer
annotated property: IAO_0000115
annotated target: A embryonal cancer that is located in the kidney.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/32853941/

childhood kidney cancer
type: Class
subclass of: kidney cancer
has db xref: NCI:C6563
has db xref: UMLS_CUI:C1333003
has exact synonym: pediatric renal tumor
has OBO namespace: disease_ontology
id: DOID:3675
in subset: DO cancer slim
in subset: DO childhood cancer slim
in subset: NCIthesaurus

cerebrum cancer
type: Class
subclass of: supratentorial cancer
IAO_0000115: A supratentorial cancer that is located_in the cerebrum.
has alternative id: DOID:912
has db xref: ICD9CM:191.8
has db xref: NCI:C4874
has db xref: SNOMEDCT_US_2023_03_01:126953009
has db xref: SNOMEDCT_US_2023_03_01:188300006
has db xref: UMLS_CUI:C0153642
has db xref: UMLS_CUI:C1263885
has exact synonym: cerebral cancer
has exact synonym: neoplasm of cerebrum
has exact synonym: tumor of Cerebrum
has OBO namespace: disease_ontology
id: DOID:368
in subset: NCIthesaurus

Axiom
annotated source: cerebrum cancer
annotated property: IAO_0000115
annotated target: A supratentorial cancer that is located_in the cerebrum.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Cerebrum

lung benign neoplasm
type: Class
subclass of: organ system benign neoplasm
has db xref: MESH:D008175
has db xref: NCI:C3200
has db xref: SNOMEDCT_US_2023_03_01:126713003
has db xref: UMLS_CUI:C0024121
has exact synonym: tumor of the lung
has OBO namespace: disease_ontology
id: DOID:3683
in subset: NCIthesaurus

MELAS syndrome
type: Class
subclass of: DOID 699
IAO_0000115: A mitochondrial encephalomyopathy that is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, has_symptom myalgia, motor weakness, headaches, seizures, and stroke-like episodes with acute hemiparesis and severe headaches, and develops_from mutation in mitochondrial genes including MT-TL1, which encodes tRNA proteins.
has db xref: ICD10CM:E88.41
has db xref: MESH:D017241
has db xref: MIM:540000
has db xref: NCI:C84885
has db xref: SNOMEDCT_US_2023_03_01:39925003
has db xref: UMLS_CUI:C0162671
has exact synonym: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
has OBO namespace: disease_ontology
id: DOID:3687
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: MELAS syndrome
annotated property: IAO_0000115
annotated target: A mitochondrial encephalomyopathy that is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, has_symptom myalgia, motor weakness, headaches, seizures, and stroke-like episodes with acute hemiparesis and severe headaches, and develops_from mutation in mitochondrial genes including MT-TL1, which encodes tRNA proteins.
type: ECO_0007637
has db xref: url:https://ghr.nlm.nih.gov/condition/mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes#genes

plexopathy
type: Class
subclass of: neurodegenerative disease
has db xref: NCI:C27744
has db xref: UMLS_CUI:C1335437
has OBO namespace: disease_ontology
id: DOID:3688
in subset: NCIthesaurus

brachial plexus neuritis
type: Class
subclass of: brachial plexus neuropathy
IAO_0000115: A brachial plexus neuropathy that affects the chest, shoulder, arm and hand.
has db xref: ICD10CM:G54.5
has db xref: MESH:D020968
has db xref: NCI:C84600
has db xref: SNOMEDCT_US_2023_03_01:26609002
has db xref: UMLS_CUI:C0221759
has exact synonym: Brachial neuritis
has exact synonym: Parsonage-Aldren-Turner syndrome
has OBO namespace: disease_ontology
id: DOID:3689
in subset: NCIthesaurus

Axiom
annotated source: brachial plexus neuritis
annotated property: IAO_0000115
annotated target: A brachial plexus neuropathy that affects the chest, shoulder, arm and hand.
has db xref: url:https://www.hopkinsmedicine.org/health/conditions-and-diseases/brachial-neuritis

olfactory neuroblastoma
type: Class
subclass of: malignant olfactory nerve neoplasm
has db xref: GARD:2197
has db xref: ICDO:9522/3
has db xref: MESH:D018304
has db xref: NCI:C3789
has db xref: SNOMEDCT_US_2023_03_01:76060004
has db xref: UMLS_CUI:C0206717
has exact synonym: Asthesioneuroblastoma
has exact synonym: Esthesioneuroblastoma
has exact synonym: Esthesioneuroepithelioma
has exact synonym: Olfactory Esthesioneuroblastoma
has exact synonym: paranasal sinus Olfactory neuroblastoma
has OBO namespace: disease_ontology
id: DOID:369
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

brachial plexus neuropathy
type: Class
subclass of: DOID 574
IAO_0000115: A peripheral nervous system disease that is characterized by damage to nerves in the upper shoulder of the brachial plexus, an area where nerves from the spinal cord branch into the arm nerves.
has db xref: ICD10CM:G54.0
has db xref: MESH:D020516
has db xref: NCI:C27194
has db xref: SNOMEDCT_US_2023_03_01:3548001
has db xref: UMLS_CUI:C0700251
has exact synonym: Brachial plexus disorder
has exact synonym: brachial plexopathy
has OBO namespace: disease_ontology
id: DOID:3690
in subset: NCIthesaurus

Axiom
annotated source: brachial plexus neuropathy
annotated property: IAO_0000115
annotated target: A peripheral nervous system disease that is characterized by damage to nerves in the upper shoulder of the brachial plexus, an area where nerves from the spinal cord branch into the arm nerves.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/30688233/
has db xref: url:https://www.mayoclinic.org/diseases-conditions/peripheral-neuropathy/symptoms-causes/syc-20352061

anal colloid adenocarcinoma
type: Class
subclass of: anus adenocarcinoma
IAO_0000115: An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal colloid.
has db xref: NCI:C5606
has db xref: UMLS_CUI:C1332272
has exact synonym: mucinous adenocarcinoma of anus
has OBO namespace: disease_ontology
id: DOID:3691
in subset: NCIthesaurus

Axiom
annotated source: anal colloid adenocarcinoma
annotated property: IAO_0000115
annotated target: An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal colloid.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Adenocarcinoma

anal canal adenocarcinoma
type: Class
subclass of: DOID 5672
IAO_0000115: An anal canal cancer that derives_from epithelial cells of glandular origin.
has db xref: NCI:C7471
has db xref: SNOMEDCT_US_2023_03_01:764845008
has db xref: UMLS_CUI:C1332259
has exact synonym: adenocarcinoma of the anal canal
has OBO namespace: disease_ontology
has related synonym: adenocarcinoma of anal canal
id: DOID:3692
in subset: NCIthesaurus

Axiom
annotated source: anal canal adenocarcinoma
annotated property: IAO_0000115
annotated target: An anal canal cancer that derives_from epithelial cells of glandular origin.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Adenocarcinoma

ampulla of Vater mucinous adenocarcinoma
type: Class
subclass of: ampulla of Vater adenocarcinoma
has db xref: NCI:C27416
has db xref: UMLS_CUI:C1332248
has OBO namespace: disease_ontology
id: DOID:3693
in subset: NCIthesaurus

bile duct mucinous adenocarcinoma
type: Class
subclass of: DOID 4896
has db xref: NCI:C5846
has db xref: UMLS_CUI:C0861856
has exact synonym: mucinous carcinoma of the bile duct
has OBO namespace: disease_ontology
id: DOID:3698
in subset: NCIthesaurus

uterine ligament mucinous adenocarcinoma
type: Class
subclass of: uterine ligament adenocarcinoma
IAO_0000115: A uterine ligament adenocarcinoma that produces mucin.
has db xref: NCI:C40137
has db xref: UMLS_CUI:C5557429
has OBO namespace: disease_ontology
id: DOID:3699
in subset: NCIthesaurus

Axiom
annotated source: uterine ligament mucinous adenocarcinoma
annotated property: IAO_0000115
annotated target: A uterine ligament adenocarcinoma that produces mucin.
type: ECO_0007636
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C40137

skin disease
type: Class
subclass of: disease
IAO_0000115: An integumentary system disease that is located_in skin.
has alternative id: DOID:1576
has alternative id: DOID:1698
has alternative id: DOID:187
has alternative id: DOID:6486
has alternative id: DOID:8948
has db xref: ICD9CM:702
has db xref: MESH:D012871
has db xref: MESH:D012873
has db xref: NCI:C156032
has db xref: NCI:C3371
has db xref: SNOMEDCT_US_2023_03_01:201095006
has db xref: SNOMEDCT_US_2023_03_01:5613003
has db xref: SNOMEDCT_US_2023_03_01:95320005
has db xref: UMLS_CUI:C0029574
has db xref: UMLS_CUI:C0037274
has db xref: UMLS_CUI:C0037277
has exact synonym: Genodermatosis
has exact synonym: skin and subcutaneous tissue disease
has OBO namespace: disease_ontology
id: DOID:37
in subset: DO RAD slim
in subset: NCIthesaurus

Axiom
annotated source: skin disease
annotated property: IAO_0000115
annotated target: An integumentary system disease that is located_in skin.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Skin_disease

malignant olfactory nerve neoplasm
type: Class
subclass of: cranial nerve malignant neoplasm
has db xref: ICD10CM:C72.2
has db xref: NCI:C4768
has db xref: UMLS_CUI:C0496838
has exact synonym: malignant olfactory nerve tumor
has exact synonym: malignant tumor of Olfactory nerve
has exact synonym: primary malignant neoplasm of olfactory nerve
has OBO namespace: disease_ontology
id: DOID:370
in subset: NCIthesaurus

uterine ligament adenocarcinoma
type: Class
subclass of: DOID 5727
IAO_0000115: A uterine ligament cancer that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue.
has db xref: NCI:C40135
has db xref: UMLS_CUI:C5557428
has OBO namespace: disease_ontology
id: DOID:3700
in subset: NCIthesaurus

Axiom
annotated source: uterine ligament adenocarcinoma
annotated property: IAO_0000115
annotated target: A uterine ligament cancer that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/26699941

cervical mucinous adenocarcinoma
type: Class
subclass of: cervical adenocarcinoma
IAO_0000115: A cervical adenocarcinoma that derives_from mucin producing epithelial cells.
has db xref: NCI:C36095
has db xref: UMLS_CUI:C1332919
has OBO namespace: disease_ontology
id: DOID:3701
in subset: NCIthesaurus

Axiom
annotated source: cervical mucinous adenocarcinoma
annotated property: IAO_0000115
annotated target: A cervical adenocarcinoma that derives_from mucin producing epithelial cells.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/24199926

cervical adenocarcinoma
type: Class
subclass of: cervix carcinoma
IAO_0000115: A cervix carcinoma that derives_from epithelial cells of glandular origin.
has db xref: NCI:C4029
has db xref: SNOMEDCT_US_2023_03_01:254887002
has db xref: UMLS_CUI:C0279672
has exact synonym: adenocarcinoma cervix uteri
has exact synonym: adenocarcinoma of cervix
has exact synonym: adenocarcinoma of the uterine Cervix
has OBO namespace: disease_ontology
id: DOID:3702
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: cervical adenocarcinoma
annotated property: IAO_0000115
annotated target: A cervix carcinoma that derives_from epithelial cells of glandular origin.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Adenocarcinoma

prostate colloid adenocarcinoma
type: Class
subclass of: prostate adenocarcinoma
IAO_0000115: A prostate adenocarcinoma that produces mucin and is characterized by non-cystic structure.
has db xref: NCI:C5537
has db xref: UMLS_CUI:C1335513
has exact synonym: acinar Colloid prostate adenocarcinoma
has OBO namespace: disease_ontology
id: DOID:3703
in subset: NCIthesaurus

Axiom
annotated source: prostate colloid adenocarcinoma
annotated property: IAO_0000115
annotated target: A prostate adenocarcinoma that produces mucin and is characterized by non-cystic structure.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/11145249

fallopian tube mucinous adenocarcinoma
type: Class
subclass of: fallopian tube adenocarcinoma
IAO_0000115: A fallopian tube adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin.
has db xref: NCI:C40103
has db xref: UMLS_CUI:C1517119
has OBO namespace: disease_ontology
id: DOID:3704
in subset: NCIthesaurus

Axiom
annotated source: fallopian tube mucinous adenocarcinoma
annotated property: IAO_0000115
annotated target: A fallopian tube adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4987967/

fallopian tube mucinous tumor
type: Class
subclass of: organ system benign neoplasm
IAO_0000115: A fallopian tube benign neoplasm that produces mucin.
has db xref: NCI:C40109
has db xref: UMLS_CUI:C1517120
has OBO namespace: disease_ontology
id: DOID:3705
in subset: NCIthesaurus

Axiom
annotated source: fallopian tube mucinous tumor
annotated property: IAO_0000115
annotated target: A fallopian tube benign neoplasm that produces mucin.
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/26894303/

fallopian tube adenocarcinoma
type: Class
subclass of: fallopian tube carcinoma
IAO_0000115: A fallopian tube carcinoma that derives_from epithelial cells of glandular origin.
has db xref: NCI:C6265
has db xref: UMLS_CUI:C1333590
has exact synonym: adenocarcinoma of the fallopian tube
has OBO namespace: disease_ontology
id: DOID:3706
in subset: NCIthesaurus

Axiom
annotated source: fallopian tube adenocarcinoma
annotated property: IAO_0000115
annotated target: A fallopian tube carcinoma that derives_from epithelial cells of glandular origin.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Adenocarcinoma

endometrial mucinous adenocarcinoma
type: Class
subclass of: endometrial adenocarcinoma
IAO_0000115: An endometrial adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin.
has db xref: NCI:C40144
has db xref: UMLS_CUI:C1519859
has exact synonym: uterine Corpus mucinous adenocarcinoma
has OBO namespace: disease_ontology
id: DOID:3707
in subset: NCIthesaurus

Axiom
annotated source: endometrial mucinous adenocarcinoma
annotated property: IAO_0000115
annotated target: An endometrial adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/22569105

rectum mucinous adenocarcinoma
type: Class
subclass of: rectum adenocarcinoma
IAO_0000115: A rectal adenocarcinoma that produces mucin.
has db xref: NCI:C7973
has db xref: UMLS_CUI:C0279652
has exact synonym: Colloidal adenocarcinoma of rectum
has OBO namespace: disease_ontology
id: DOID:3709
in subset: NCIthesaurus

Axiom
annotated source: rectum mucinous adenocarcinoma
annotated property: IAO_0000115
annotated target: A rectal adenocarcinoma that produces mucin.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4110493/

extracranial neuroblastoma
type: Class
subclass of: DOID 769
has db xref: NCI:C5437
has db xref: UMLS_CUI:C1333499
has OBO namespace: disease_ontology
id: DOID:371
in subset: NCIthesaurus

bladder colloid adenocarcinoma
type: Class
subclass of: bladder adenocarcinoma
has db xref: NCI:C39837
has db xref: UMLS_CUI:C1511193
has OBO namespace: disease_ontology
id: DOID:3710
in subset: NCIthesaurus

bladder adenocarcinoma
type: Class
subclass of: bladder carcinoma
IAO_0000115: A bladder carcinoma that derives_from epithelial cells of glandular origin.
has db xref: NCI:C4032
has db xref: SNOMEDCT_US_2023_03_01:255110003
has db xref: UMLS_CUI:C0279682
has exact synonym: adenocarcinoma of bladder
has exact synonym: adenocarcinoma of the urinary bladder
has exact synonym: bladder adenocarcinoma, Not Otherwise Specified
has OBO namespace: disease_ontology
id: DOID:3711
in subset: NCIthesaurus

Axiom
annotated source: bladder adenocarcinoma
annotated property: IAO_0000115
annotated target: A bladder carcinoma that derives_from epithelial cells of glandular origin.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Adenocarcinoma

ovary adenocarcinoma
type: Class
subclass of: malignant ovarian surface epithelial-stromal neoplasm
IAO_0000115: An ovarian carcinoma that derives_from epithelial cells of glandular origin.
has alternative id: DOID:7816
has db xref: NCI:C7700
has db xref: UMLS_CUI:C0948216
has exact synonym: Ovarian adenocarcinoma
has exact synonym: ovarian adenoacanthoma
has OBO namespace: disease_ontology
has related synonym: adenocarcinoma of the ovary
id: DOID:3713
in subset: NCIthesaurus

Axiom
annotated source: ovary adenocarcinoma
annotated property: IAO_0000115
annotated target: An ovarian carcinoma that derives_from epithelial cells of glandular origin.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Adenocarcinoma

mucinous stomach adenocarcinoma
type: Class
subclass of: DOID 6217
has db xref: NCI:C5248
has db xref: UMLS_CUI:C1334809
has exact synonym: mucinous adenocarcinoma of the stomach
has OBO namespace: disease_ontology
id: DOID:3716
in subset: NCIthesaurus

gastric adenocarcinoma
type: Class
subclass of: DOID 5517
IAO_0000115: A stomach carcinoma that derives_from epithelial cells of glandular origin.
has db xref: NCI:C4004
has db xref: SNOMEDCT_US_2023_03_01:408647009
has db xref: UMLS_CUI:C0278701
has exact synonym: adenocarcinoma of stomach
has exact synonym: stomach adenocarcinoma
has OBO namespace: disease_ontology
id: DOID:3717
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: gastric adenocarcinoma
annotated property: IAO_0000115
annotated target: A stomach carcinoma that derives_from epithelial cells of glandular origin.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Adenocarcinoma

extramedullary plasmacytoma
type: Class
subclass of: plasmacytoma
has db xref: ICD10CM:C90.2
has db xref: NCI:C4002
has db xref: SNOMEDCT_US_2023_03_01:128921005
has db xref: UMLS_CUI:C0278619
has exact synonym: extraosseous plasmacytoma
has exact synonym: plasmacytoma, extramedullary
has OBO namespace: disease_ontology
id: DOID:3720
in subset: NCIthesaurus

plasmacytoma
type: Class
subclass of: DOID 706
has db xref: ICD10CM:C90.3
has db xref: ICDO:9731/3
has db xref: MESH:D010954
has db xref: NCI:C9349
has db xref: SNOMEDCT_US_2023_03_01:302852008
has db xref: UMLS_CUI:C0032131
has exact synonym: Myeloma - solitary
has exact synonym: Myeloma, solitary
has exact synonym: Solitary myeloma
has exact synonym: Solitary plasmacytoma
has OBO namespace: disease_ontology
id: DOID:3721
in subset: DO cancer slim
in subset: NCIthesaurus

solitary osseous plasmacytoma
type: Class
subclass of: plasmacytoma
has db xref: NCI:C7812
has db xref: SNOMEDCT_US_2023_03_01:42215000
has db xref: UMLS_CUI:C0272256
has exact synonym: Isolated osseous plasmacytoma
has exact synonym: Solitary plasmacytoma of bone
has OBO namespace: disease_ontology
id: DOID:3722
in subset: NCIthesaurus

solitary plasmacytoma of chest wall
type: Class
subclass of: plasmacytoma
has db xref: NCI:C6711
has db xref: UMLS_CUI:C1332936
has exact synonym: Solitary plasmacytoma of the Chest Wall
has OBO namespace: disease_ontology
id: DOID:3723
in subset: NCIthesaurus

verrucous carcinoma
type: Class
subclass of: squamous cell carcinoma
IAO_0000115: A squamous cell carcinoma that is a diffuse, papillary, non metastasizing, well differentiated, malignant neoplasm of epidermis or oral epithelium.
has db xref: ICDO:8051/3
has db xref: MESH:D018289
has db xref: NCI:C3781
has db xref: SNOMEDCT_US_2023_03_01:89906000
has db xref: UMLS_CUI:C0206706
has exact synonym: Warty carcinoma
has exact synonym: verrucous squamous carcinoma
has exact synonym: verrucous squamous cell carcinoma
has OBO namespace: disease_ontology
id: DOID:3737
in subset: NCIthesaurus

Axiom
annotated source: verrucous carcinoma
annotated property: IAO_0000115
annotated target: A squamous cell carcinoma that is a diffuse, papillary, non metastasizing, well differentiated, malignant neoplasm of epidermis or oral epithelium.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Verrucous_carcinoma

nutrition disease
type: Class
subclass of: disease of metabolism
IAO_0000115: An acquired metabolic disease that is characterized by an insufficient intake of food or of certain nutrients, by an inability of the body to absorb and use nutrients, or by overconsumption of certain foods.
has db xref: MESH:D009748
has db xref: NCI:C26836
has db xref: SNOMEDCT_US_2023_03_01:191077005
has db xref: UMLS_CUI:C3714509
has exact synonym: Nutritional disorder
has OBO namespace: disease_ontology
id: DOID:374
in subset: NCIthesaurus

Axiom
annotated source: nutrition disease
annotated property: IAO_0000115
annotated target: An acquired metabolic disease that is characterized by an insufficient intake of food or of certain nutrients, by an inability of the body to absorb and use nutrients, or by overconsumption of certain foods.
type: ECO_0007637
has db xref: url:http://www.who.int/topics/nutrition_disorders/en/

vulva verrucous carcinoma
type: Class
subclass of: vulva squamous cell carcinoma
IAO_0000115: A vulva squamous cell carcinoma that is characterized as locally invasive, with warty-appearing, highly differentiated, and variably keratinized lesions.
has db xref: NCI:C6383
has db xref: UMLS_CUI:C1336983
has exact synonym: verrucous carcinoma of Vulva
has OBO namespace: disease_ontology
id: DOID:3740
in subset: NCIthesaurus

Axiom
annotated source: vulva verrucous carcinoma
annotated property: IAO_0000115
annotated target: A vulva squamous cell carcinoma that is characterized as locally invasive, with warty-appearing, highly differentiated, and variably keratinized lesions.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5429114/

bladder verrucous squamous cell carcinoma
type: Class
subclass of: bladder squamous cell carcinoma
has db xref: NCI:C39832
has db xref: UMLS_CUI:C1511208
has OBO namespace: disease_ontology
id: DOID:3741
in subset: NCIthesaurus

bladder squamous cell carcinoma
type: Class
subclass of: bladder carcinoma
IAO_0000115: A carcinoma of bladder that is manifested in squamous cells of the bladder.
has db xref: NCI:C4031
has db xref: SNOMEDCT_US_2023_03_01:255111004
has db xref: UMLS_CUI:C0279681
has exact synonym: Epidermoid carcinoma of the urinary bladder
has exact synonym: squamous cell carcinoma of bladder
has OBO namespace: disease_ontology
id: DOID:3742
in subset: NCIthesaurus

Axiom
annotated source: bladder squamous cell carcinoma
annotated property: IAO_0000115
annotated target: A carcinoma of bladder that is manifested in squamous cells of the bladder.
type: ECO_0007637
has db xref: url:http://www.cancer.gov/cancertopics/types/bladder

cervical verrucous carcinoma
type: Class
subclass of: cervical squamous cell carcinoma
IAO_0000115: A cervical squamous cell carcinoma that is characterized by a hyperkeratotic, undulating, warty surface and invades the underlying stroma in the form of bulbous epithelial pegs with a pushing border, broad papillae that lack fibrovascular cores and the absence of koilocytosis. It shows no more than minimal nuclear atypia and does not exhibit infiltrative growth.
has db xref: NCI:C40190
has db xref: UMLS_CUI:C1516435
has OBO namespace: disease_ontology
id: DOID:3743
in subset: NCIthesaurus

Axiom
annotated source: cervical verrucous carcinoma
annotated property: IAO_0000115
annotated target: A cervical squamous cell carcinoma that is characterized by a hyperkeratotic, undulating, warty surface and invades the underlying stroma in the form of bulbous epithelial pegs with a pushing border, broad papillae that lack fibrovascular cores and the absence of koilocytosis. It shows no more than minimal nuclear atypia and does not exhibit infiltrative growth.
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/18214065

cervical squamous cell carcinoma
type: Class
subclass of: cervix carcinoma
IAO_0000115: A cervix carcinoma that has_material_basis_in squamous cells of the cervix.
has db xref: NCI:C4028
has db xref: SNOMEDCT_US_2023_03_01:254886006
has db xref: UMLS_CUI:C0279671
has exact synonym: squamous cell carcinoma of cervix
has exact synonym: squamous cell carcinoma of the Cervix Uteri
has OBO namespace: disease_ontology
id: DOID:3744
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: cervical squamous cell carcinoma
annotated property: IAO_0000115
annotated target: A cervix carcinoma that has_material_basis_in squamous cells of the cervix.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007641
has db xref: url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma
has db xref: url:http://www.cancer.gov/dictionary?CdrID=752829

esophagus verrucous carcinoma
type: Class
subclass of: esophagus squamous cell carcinoma
has db xref: NCI:C27420
has db xref: UMLS_CUI:C1333470
has exact synonym: oesophagus verrucous carcinoma
has exact synonym: verrucous carcinoma of esophagus
has exact synonym: verrucous carcinoma of oesophagus
has OBO namespace: disease_ontology
has related synonym: verrucous carcinoma of the esophagus
id: DOID:3747
in subset: NCIthesaurus

esophagus squamous cell carcinoma
type: Class
subclass of: esophageal carcinoma
IAO_0000115: An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.
has db xref: MESH:D000077277
has db xref: NCI:C4024
has db xref: SNOMEDCT_US_2023_03_01:276804009
has db xref: UMLS_CUI:C0279626
has exact synonym: SCC of esophagus
has exact synonym: SCC of oesophagus
has exact synonym: oesophagus squamous cell carcinoma
has OBO namespace: disease_ontology
id: DOID:3748
in subset: DO cancer slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: esophagus squamous cell carcinoma
annotated property: IAO_0000115
annotated target: An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.
type: ECO_0007637
has db xref: url:http://www.cancer.gov/cancertopics/types/esophageal

urethral verrucous carcinoma
type: Class
subclass of: urethra squamous cell carcinoma
IAO_0000115: A urethra squamous cell carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
has db xref: NCI:C39874
has db xref: UMLS_CUI:C1519827
has OBO namespace: disease_ontology
id: DOID:3749
in subset: NCIthesaurus

Axiom
annotated source: urethral verrucous carcinoma
annotated property: IAO_0000115
annotated target: A urethra squamous cell carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
type: ECO_0007636
has db xref: url:https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C39874

urethra squamous cell carcinoma
type: Class
subclass of: DOID 734
IAO_0000115: A cancer of urethra that shows squamous cell differentiation.
has db xref: NCI:C6165
has db xref: UMLS_CUI:C1336890
has exact synonym: urethral Epidermoid carcinoma
has OBO namespace: disease_ontology
id: DOID:3750
in subset: NCIthesaurus

Axiom
annotated source: urethra squamous cell carcinoma
annotated property: IAO_0000115
annotated target: A cancer of urethra that shows squamous cell differentiation.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Squamous_cell_carcinoma

plantar verrucous skin carcinoma
type: Class
subclass of: skin squamous cell carcinoma
has db xref: NCI:C6811
has db xref: SNOMEDCT_US_2023_03_01:254655003
has db xref: UMLS_CUI:C0349657
has OBO namespace: disease_ontology
id: DOID:3751
in subset: NCIthesaurus

larynx verrucous carcinoma
type: Class
subclass of: laryngeal squamous cell carcinoma
has db xref: NCI:C8188
has db xref: UMLS_CUI:C0280328
has exact synonym: verrucous carcinoma of the Larynx
has OBO namespace: disease_ontology
id: DOID:3752
in subset: NCIthesaurus

Hermansky-Pudlak syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin.
has db xref: GARD:6643
has db xref: ICD10CM:E70.331
has db xref: MESH:D022861
has db xref: MIM:PS203300
has db xref: NCI:C37261
has db xref: ORDO:231531
has db xref: ORDO:231537
has db xref: ORDO:280663
has db xref: ORDO:79430
has db xref: SNOMEDCT_US_2023_03_01:60255003
has db xref: UMLS_CUI:C0079504
has OBO namespace: disease_ontology
id: DOID:3753
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Hermansky-Pudlak syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Hermansky%E2%80%93Pudlak_syndrome
has db xref: url:http://ghr.nlm.nih.gov/condition/hermansky-pudlak-syndrome
has db xref: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/946/viewAbstract

antithrombin III deficiency
type: Class
subclass of: thrombophilia
IAO_0000115: A thrombophilia that is characterized by the tendency to form clots in the veins.
has db xref: ICD10CM:D68.59
has db xref: MESH:D020152
has db xref: MIM:613118
has db xref: NCI:C98815
has db xref: SNOMEDCT_US_2023_03_01:36351005
has db xref: UMLS_CUI:C0272375
has exact synonym: AT III deficiency
has exact synonym: hereditary thrombophilia due to congenital antithrombin deficiency
has OBO namespace: disease_ontology
id: DOID:3755
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: antithrombin III deficiency
annotated property: IAO_0000115
annotated target: A thrombophilia that is characterized by the tendency to form clots in the veins.
type: ECO_0007636
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Antithrombin_III_deficiency
has db xref: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/99/viewAbstract

protein C deficiency
type: Class
subclass of: thrombophilia
IAO_0000115: A thrombophilia that is characterized by recurrent venous thrombosis and that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.
has db xref: GARD:4521
has db xref: ICD10CM:D68.59
has db xref: MESH:D020151
has db xref: NCI:C99025
has db xref: ORDO:745
has db xref: SNOMEDCT_US_2023_03_01:76407009
has db xref: UMLS_CUI:C0398625
has OBO namespace: disease_ontology
id: DOID:3756
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: protein C deficiency
annotated property: IAO_0000115
annotated target: A thrombophilia that is characterized by recurrent venous thrombosis and that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/10942114/

cytochrome-c oxidase deficiency disease
type: Class
subclass of: DOID 655
IAO_0000115: A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation.
has db xref: GARD:48
has db xref: MESH:D030401
has db xref: MIM:PS220110
has db xref: NCI:C98910
has db xref: SNOMEDCT_US_2023_03_01:237991006
has db xref: UMLS_CUI:C0268237
has exact synonym: MITOCHONDRIAL COMPLEX IV DEFICIENCY
has OBO namespace: disease_ontology
id: DOID:3762
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: cytochrome-c oxidase deficiency disease
annotated property: IAO_0000115
annotated target: A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007645
has db xref: url:https://en.wikipedia.org/wiki/Cytochrome_c_oxidase#Genetic_defects_and_disorders
has db xref: url:https://ghr.nlm.nih.gov/condition/cytochrome-c-oxidase-deficiency
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/26846578

hermaphroditism
type: Class
subclass of: gonadal disease
has db xref: MESH:D012734
has db xref: NCI:C45909
has db xref: SNOMEDCT_US_2023_03_01:52572004
has db xref: UMLS_CUI:C0019269
has OBO namespace: disease_ontology
id: DOID:3763
in subset: NCIthesaurus

Denys-Drash syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome that is characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma that derives_from an abnormality in the WT1 gene (Wilms' tumor suppressor gene).
has db xref: GARD:5576
has db xref: MESH:D030321
has db xref: MIM:194080
has db xref: NCI:C84668
has db xref: SNOMEDCT_US_2023_03_01:236385009
has db xref: UMLS_CUI:C0950121
has OBO namespace: disease_ontology
id: DOID:3764
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Denys-Drash syndrome
annotated property: IAO_0000115
annotated target: A syndrome that is characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma that derives_from an abnormality in the WT1 gene (Wilms' tumor suppressor gene).
type: ECO_0007636
type: ECO_0007645
has db xref: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1049926/
has db xref: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=220&lng=EN

pseudohermaphroditism
type: Class
subclass of: gonadal disease
has alternative id: DOID:11226
has db xref: ICD10CM:Q56
has db xref: ICD10CM:Q56.3
has db xref: ICD9CM:752.7
has db xref: MESH:D012734
has db xref: NCI:C124575
has db xref: SNOMEDCT_US_2023_03_01:204895009
has db xref: SNOMEDCT_US_2023_03_01:268328009
has db xref: UMLS_CUI:C0021193
has db xref: UMLS_CUI:C0033804
has exact synonym: Indeterminate sex and pseudohermaphroditism
has OBO namespace: disease_ontology
id: DOID:3765
in subset: NCIthesaurus

leukorrhea
type: Class
subclass of: vaginal disease
IAO_0000115: A vaginal discharge that is characterized by a whitish or yellow color.
has db xref: ICD10CM:N89.8
has db xref: MESH:D007973
has db xref: NCI:C34775
has db xref: SNOMEDCT_US_2023_03_01:156017008
has db xref: UMLS_CUI:C0023533
has exact synonym: Leukorrhea of vagina
has exact synonym: discharge - leukorrhea
has OBO namespace: disease_ontology
id: DOID:3766
in subset: NCIthesaurus

Axiom
annotated source: leukorrhea
annotated property: IAO_0000115
annotated target: A vaginal discharge that is characterized by a whitish or yellow color.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/27773511

pulmonary fibrosis
type: Class
subclass of: interstitial lung disease
IAO_0000115: An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.
has db xref: MESH:D011658
has db xref: NCI:C26869
has db xref: SNOMEDCT_US_2023_03_01:155613001
has db xref: UMLS_CUI:C0034069
has exact synonym: Fibrosis of lung
has OBO namespace: disease_ontology
id: DOID:3770
in subset: NCIthesaurus

Axiom
annotated source: pulmonary fibrosis
annotated property: IAO_0000115
annotated target: An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.
type: ECO_0007645
has db xref: url:https://www.lung.org/lung-health-diseases/lung-disease-lookup/pulmonary-fibrosis
has db xref: url:https://www.sciencedirect.com/science/article/pii/S0954611106004331

intraventricular meningioma
type: Class
subclass of: meningioma
has db xref: MESH:D008579
has db xref: NCI:C5273
has db xref: UMLS_CUI:C1334271
has OBO namespace: disease_ontology
id: DOID:3772
in subset: NCIthesaurus

chordoid glioma
type: Class
subclass of: high grade glioma
IAO_0000115: A high grade glioma that is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates.
has alternative id: DOID:3773
has db xref: ICDO:9444/1
has db xref: NCI:C5592
has db xref: ORDO:251674
has db xref: SNOMEDCT_US_2023_03_01:128789002
has db xref: UMLS_CUI:C1322252
has exact synonym: Chordoid glioma of 3rd Ventricle
has exact synonym: Chordoid glioma of third ventricle
has exact synonym: third ventricle chordoid glioma
has OBO namespace: disease_ontology
id: DOID:3774
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: chordoid glioma
annotated property: IAO_0000115
annotated target: A high grade glioma that is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/28315998/
has db xref: url:https://www.frontiersin.org/articles/10.3389/fonc.2020.00502/full

granuloma annulare
type: Class
subclass of: dermatitis
has db xref: GARD:6546
has db xref: ICD10CM:L92.0
has db xref: MESH:D016460
has db xref: NCI:C3470
has db xref: SNOMEDCT_US_2023_03_01:200953005
has db xref: UMLS_CUI:C0085074
has exact synonym: Granulome annulare
has OBO namespace: disease_ontology
id: DOID:3777
in subset: DO rare slim
in subset: NCIthesaurus

anovulation
type: Class
subclass of: ovarian disease
IAO_0000115: An ovarian disease that is characterized by the absence of ovulation.
has db xref: MESH:D000858
has db xref: NCI:C34388
has db xref: SNOMEDCT_US_2023_03_01:34571000
has db xref: UMLS_CUI:C0003128
has OBO namespace: disease_ontology
id: DOID:3781
in subset: NCIthesaurus

Axiom
annotated source: anovulation
annotated property: IAO_0000115
annotated target: An ovarian disease that is characterized by the absence of ovulation.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Anovulation

Coffin-Lowry syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome that is characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females, and has_material_basis_in mutation in the RSK2 gene on chromosome Xp22.
has db xref: GARD:6123
has db xref: MESH:D038921
has db xref: MIM:303600
has db xref: NCI:C84643
has db xref: SNOMEDCT_US_2023_03_01:15182000
has db xref: UMLS_CUI:C0265252
has OBO namespace: disease_ontology
id: DOID:3783
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Coffin-Lowry syndrome
annotated property: IAO_0000115
annotated target: A syndrome that is characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females, and has_material_basis_in mutation in the RSK2 gene on chromosome Xp22.
type: ECO_0007637
has db xref: url:https://ghr.nlm.nih.gov/condition/coffin-lowry-syndrome#inheritance

external ear disease
type: Class
subclass of: auditory system disease
IAO_0000115: An auditory system disease that is located_in the external ear.
has alternative id: DOID:13122
has alternative id: DOID:835
has db xref: ICD10CM:H61.9
has db xref: ICD9CM:380
has db xref: NCI:C26972
has db xref: SNOMEDCT_US_2023_03_01:49130001
has db xref: UMLS_CUI:C0155388
has exact synonym: Preauricular cyst
has exact synonym: Preauricular sinus and fistula
has exact synonym: Preauricular sinus or fistula
has OBO namespace: disease_ontology
id: DOID:379
in subset: NCIthesaurus

Axiom
annotated source: external ear disease
annotated property: IAO_0000115
annotated target: An auditory system disease that is located_in the external ear.
has db xref: url:https://app1.unmc.edu/medicine/heywood/otology/unit3-external-ear-disease-diagnosis.cfm

pleural empyema
type: Class
subclass of: pleural disease
IAO_0000115: A soft tissue infectious disease that involves accumulation of pus in the pleural cavity as a result of infection within the lung (pneumonia) or a lung abscess spreading into the space. The symptoms include cough, fever, chest pain, sweating and shortness of breath.
has alternative id: DOID:11023
has alternative id: DOID:13630
has alternative id: DOID:14304
has db xref: ICD10CM:J86
has db xref: MESH:D016724
has db xref: NCI:C45692
has db xref: SNOMEDCT_US_2023_03_01:196069007
has db xref: UMLS_CUI:C0014013
has exact synonym: Empyema of pleura
has exact synonym: Empyema of pleura without fistula
has exact synonym: Empyema with no fistula
has exact synonym: Empyema with pleural fistula
has exact synonym: Empyema without mention of fistula
has exact synonym: Empyema, chest
has exact synonym: Pleural empyema with fistula
has exact synonym: Purulent pleurisy
has exact synonym: Thorax abscess
has exact synonym: abscess of pleural cavity
has exact synonym: abscess of thorax
has exact synonym: empyema
has exact synonym: empyema with fistula
has exact synonym: lung empyema
has exact synonym: pleural empyema with no fistula
has exact synonym: purulent pleuritis
has exact synonym: pyothorax
has OBO namespace: disease_ontology
id: DOID:3798
in subset: NCIthesaurus
comment: Updating outdated UMLS CUI.

Axiom
annotated source: pleural empyema
annotated property: IAO_0000115
annotated target: A soft tissue infectious disease that involves accumulation of pus in the pleural cavity as a result of infection within the lung (pneumonia) or a lung abscess spreading into the space. The symptoms include cough, fever, chest pain, sweating and shortness of breath.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Pleural_empyema
has db xref: url:http://www.merck.com/mmhe/sec04/ch052/ch052b.html?qt=Pleural%20empyema%20&alt=sh

porokeratosis
type: Class
subclass of: keratosis
has alternative id: DOID:8668
has db xref: GARD:10983
has db xref: ICD10CM:L56.5
has db xref: ICD9CM:692.75
has db xref: MESH:D017499
has db xref: MIM:175800
has db xref: NCI:C85019
has db xref: SNOMEDCT_US_2023_03_01:201086003
has db xref: SNOMEDCT_US_2023_03_01:238630009
has db xref: UMLS_CUI:C0162839
has db xref: UMLS_CUI:C0265970
has exact synonym: disseminated superficial actinic porokeratosis
has OBO namespace: disease_ontology
id: DOID:3805
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

epidural spinal canal meningioma
type: Class
subclass of: spinal canal and spinal cord meningioma
has db xref: NCI:C5310
has db xref: UMLS_CUI:C1333417
has OBO namespace: disease_ontology
id: DOID:3809
in subset: NCIthesaurus

arthropathy
type: Class
subclass of: DOID 65
IAO_0000115: A bone disease that is located_in the joint.
has alternative id: DOID:13871
has alternative id: DOID:13960
has alternative id: DOID:1843
has alternative id: DOID:1903
has alternative id: DOID:226
has alternative id: DOID:2317
has alternative id: DOID:2318
has alternative id: DOID:546
has alternative id: DOID:9489
has db xref: ICD10CM:M00-M02
has db xref: ICD10CM:M12.9
has db xref: ICD9CM:711
has db xref: ICD9CM:719.90
has db xref: MESH:D007592
has db xref: NCI:C35760
has db xref: NCI:C78402
has db xref: SNOMEDCT_US_2023_03_01:48548006
has db xref: SNOMEDCT_US_2023_03_01:8316001
has db xref: UMLS_CUI:C0022408
has db xref: UMLS_CUI:C0157749
has exact synonym: Ankylosis of joint of ankle and/or foot
has exact synonym: Ankylosis of joint of forearm
has exact synonym: Ankylosis of joint of hand
has exact synonym: Ankylosis of joint of lower leg
has exact synonym: Ankylosis of joint of upper arm
has exact synonym: Ankylosis of multiple joints
has exact synonym: Infectious arthropathy
has exact synonym: Joint ankylosis of the ankle and foot
has exact synonym: Joint ankylosis of the ankle and/or foot
has exact synonym: Joint ankylosis of the forearm
has exact synonym: Joint ankylosis of the hand
has exact synonym: Joint ankylosis of the lower leg
has exact synonym: Joint ankylosis of the pelvic region and thigh
has exact synonym: Joint ankylosis of the shoulder region
has exact synonym: Joint ankylosis of the upper arm
has exact synonym: ankylosis of ankle and foot joint
has exact synonym: ankylosis of forearm joint
has exact synonym: ankylosis of hand joint
has exact synonym: ankylosis of joint of multiple sites
has exact synonym: ankylosis of joint of pelvic region and thigh
has exact synonym: ankylosis of joint of shoulder region
has exact synonym: ankylosis of lower leg joint
has exact synonym: ankylosis of upper arm joint
has OBO namespace: disease_ontology
id: DOID:381
in subset: NCIthesaurus

Axiom
annotated source: arthropathy
annotated property: IAO_0000115
annotated target: A bone disease that is located_in the joint.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Arthropathy
comment: ls:IEDB

central nervous system chondroma
type: Class
subclass of: organ system benign neoplasm
has db xref: NCI:C7001
has db xref: UMLS_CUI:C1333019
has exact synonym: Chondroma of the CNS
has OBO namespace: disease_ontology
id: DOID:3813
in subset: NCIthesaurus

soft tissue chondroma
type: Class
subclass of: connective tissue benign neoplasm
IAO_0000115: A connective tissue benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification.
has db xref: NCI:C9482
has exact synonym: extraskeletal chondroma
has OBO namespace: disease_ontology
id: DOID:3814
in subset: NCIthesaurus

Axiom
annotated source: soft tissue chondroma
annotated property: IAO_0000115
annotated target: A connective tissue benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification.
has db xref: url:https://radiopaedia.org/articles/soft-tissue-chondroma

glossopharyngeal nerve paralysis
type: Class
subclass of: cranial nerve palsy
has db xref: NCI:C27335
has db xref: SNOMEDCT_US_2023_03_01:827050005
has db xref: UMLS_CUI:C5231192
has OBO namespace: disease_ontology
id: DOID:3816
in subset: NCIthesaurus

cranial nerve palsy
type: Class
subclass of: DOID 5656
IAO_0000115: A cranial nerve disease that is characterized by complete or partial weakness or paralysis of the areas served by the affected nerve.
has db xref: MESH:D003389
has db xref: NCI:C26941
has db xref: SNOMEDCT_US_2023_03_01:73013002
has db xref: UMLS_CUI:C0151311
has exact synonym: Cranial nerve Paralysis
has OBO namespace: disease_ontology
id: DOID:3817
in subset: NCIthesaurus

Axiom
annotated source: cranial nerve palsy
annotated property: IAO_0000115
annotated target: A cranial nerve disease that is characterized by complete or partial weakness or paralysis of the areas served by the affected nerve.
has db xref: url:https://aapos.org/glossary/cranial-nerve-palsy

congenital diaphragmatic hernia
type: Class
subclass of: musculoskeletal system disease
IAO_0000115: A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs.
has db xref: GARD:1481
has db xref: ICD10CM:K44
has db xref: MESH:D006548
has db xref: MIM:142340
has db xref: MIM:222400
has db xref: MIM:610187
has db xref: NCI:C34687
has db xref: ORDO:2140
has db xref: SNOMEDCT_US_2023_03_01:155748004
has db xref: UMLS_CUI:C0019284
has exact synonym: Diaphragmatic Hernia
has OBO namespace: disease_ontology
id: DOID:3827
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: congenital diaphragmatic hernia
annotated property: IAO_0000115
annotated target: A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Congenital_diaphragmatic_hernia
has db xref: url:http://ghr.nlm.nih.gov/condition/congenital-diaphragmatic-hernia

chromophobe adenoma
type: Class
subclass of: pituitary adenoma
has db xref: ICDO:8270/0
has db xref: MESH:D000238
has db xref: NCI:C2857
has db xref: SNOMEDCT_US_2023_03_01:37039006
has db xref: UMLS_CUI:C0001432
has exact synonym: Chromophobe adenoma of the Pituitary gland
has OBO namespace: disease_ontology
id: DOID:3828
in subset: NCIthesaurus

pituitary adenoma
type: Class
subclass of: endocrine system disease
IAO_0000115: A pituitary gland benign neoplasm that derives_from glandular epithelial cells.
has db xref: ICDO:8272/0
has db xref: MESH:D010911
has db xref: MIM:PS102200
has db xref: NCI:C3329
has db xref: SNOMEDCT_US_2023_03_01:154621002
has db xref: UMLS_CUI:C0032000
has exact synonym: adenoma of the Pituitary gland
has OBO namespace: disease_ontology
id: DOID:3829
in subset: NCIthesaurus

Axiom
annotated source: pituitary adenoma
annotated property: IAO_0000115
annotated target: A pituitary gland benign neoplasm that derives_from glandular epithelial cells.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/24010395

Wolff-Parkinson-White syndrome
type: Class
subclass of: heart disease
has alternative id: DOID:10392
has db xref: GARD:7897
has db xref: ICD10CM:I45.6
has db xref: ICD9CM:426.7
has db xref: MESH:D014927
has db xref: MIM:194200
has db xref: NCI:C35132
has db xref: SNOMEDCT_US_2023_03_01:195057009
has db xref: SNOMEDCT_US_2023_03_01:74390002
has db xref: UMLS_CUI:C0043202
has db xref: UMLS_CUI:C0392470
has exact synonym: Anomalous A-V excitation
has exact synonym: Wolff-Parkinson-White pattern
has exact synonym: anomalous atrioventricular excitation
has OBO namespace: disease_ontology
id: DOID:384
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS]. OMIM mapping confirmed by DO. [SN].

craniopharyngioma
type: Class
subclass of: organ system benign neoplasm
has db xref: GARD:10486
has db xref: ICDO:9350/1
has db xref: MESH:D003397
has db xref: NCI:C2964
has db xref: SNOMEDCT_US_2023_03_01:189179009
has db xref: UMLS_CUI:C0010276
has exact synonym: neoplasm of Rathke's Pouch
has OBO namespace: disease_ontology
id: DOID:3840
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

skull base cancer
type: Class
subclass of: skull cancer
has db xref: MESH:D019292
has db xref: NCI:C4676
has db xref: UMLS_CUI:C0376527
has exact synonym: tumors of Skull Base
has OBO namespace: disease_ontology
id: DOID:3842
in subset: NCIthesaurus

diencephalic neoplasm
type: Class
subclass of: supratentorial cancer
has alternative id: DOID:6097
has db xref: NCI:C5125
has db xref: NCI:C5126
has db xref: UMLS_CUI:C1333286
has db xref: UMLS_CUI:C1334576
has exact synonym: malignant Diencephalic tumor
has exact synonym: malignant diencephalic neoplasm
has exact synonym: tumor of Diencephalon
has OBO namespace: disease_ontology
id: DOID:3843
in subset: NCIthesaurus

adamantinous craniopharyngioma
type: Class
subclass of: craniopharyngioma
has db xref: ICDO:9351/1
has db xref: MESH:D003397
has db xref: NCI:C4726
has db xref: SNOMEDCT_US_2023_03_01:134216001
has db xref: UMLS_CUI:C0431129
has exact synonym: Adamantinous Rathke's Pouch tumor
has exact synonym: craniopharyngioma, adamantinomatous
has OBO namespace: disease_ontology
id: DOID:3846
in subset: DO cancer slim
in subset: NCIthesaurus

papillary craniopharyngioma
type: Class
subclass of: craniopharyngioma
has db xref: ICDO:9352/1
has db xref: MESH:D003397
has db xref: NCI:C4725
has db xref: SNOMEDCT_US_2023_03_01:134215002
has db xref: UMLS_CUI:C0431128
has exact synonym: Papillary Rathke's Pouch tumor
has exact synonym: craniopharyngioma, papillary
has OBO namespace: disease_ontology
id: DOID:3847
in subset: DO cancer slim
in subset: NCIthesaurus

hemangiopericytic tumor
type: Class
subclass of: perivascular tumor
has db xref: NCI:C7076
has db xref: SNOMEDCT_US_2023_03_01:189867006
has db xref: UMLS_CUI:C0476144
has exact synonym: Hemangiopericytic neoplasm
has OBO namespace: disease_ontology
id: DOID:3850
in subset: NCIthesaurus

Peutz-Jeghers syndrome
type: Class
subclass of: DOID 5295
IAO_0000115: An intestinal disease characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms that has_material_basis_in heterozygous mutation in the serine/threonine kinase STK11 gene on chromosome 19p13.
has alternative id: DOID:4133
has alternative id: DOID:4134
has alternative id: DOID:6252
has alternative id: DOID:6253
has db xref: GARD:7378
has db xref: ICD10CM:Q85.89
has db xref: MESH:D010580
has db xref: MIM:175200
has db xref: NCI:C3324
has db xref: NCI:C4733
has db xref: NCI:C7755
has db xref: ORDO:2869
has db xref: SNOMEDCT_US_2023_03_01:157029009
has db xref: SNOMEDCT_US_2023_03_01:277161008
has db xref: SNOMEDCT_US_2023_03_01:53633000
has db xref: UMLS_CUI:C0031269
has db xref: UMLS_CUI:C0265323
has db xref: UMLS_CUI:C0456487
has exact synonym: Colonic hamartomatous polyp
has exact synonym: Peutz Jeghers colon polyp
has exact synonym: Peutz Jeghers polyp
has exact synonym: Peutz-Jeghers polyp of small Intestine
has exact synonym: gastric Peutz-Jeghers polyp
has exact synonym: peutz-jeghers small bowel hamartoma
has OBO namespace: disease_ontology
id: DOID:3852
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Peutz-Jeghers syndrome
annotated property: IAO_0000115
annotated target: An intestinal disease characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms that has_material_basis_in heterozygous mutation in the serine/threonine kinase STK11 gene on chromosome 19p13.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/10499464/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/10874301/

seminal vesicle tumor
type: Class
subclass of: organ system benign neoplasm
has db xref: NCI:C39908
has db xref: SNOMEDCT_US_2023_03_01:236740006
has db xref: UMLS_CUI:C0341767
has exact synonym: Seminal Vesicle neoplasm
has exact synonym: seminal vesicle tumour
has exact synonym: tumor of seminal vesicle
has exact synonym: tumour of seminal vesicle
has OBO namespace: disease_ontology
id: DOID:3855
in subset: NCIthesaurus

male reproductive organ cancer
type: Class
subclass of: reproductive organ cancer
IAO_0000115: A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum.
has alternative id: DOID:10284
has db xref: ICD10CM:C63.9
has db xref: ICD9CM:187.9
has db xref: MESH:D005834
has db xref: NCI:C3054
has db xref: NCI:C8561
has db xref: SNOMEDCT_US_2023_03_01:126895004
has db xref: SNOMEDCT_US_2023_03_01:363515000
has db xref: UMLS_CUI:C0017417
has db xref: UMLS_CUI:C0153606
has exact synonym: male genital cancer
has exact synonym: male reproductive system neoplasm
has exact synonym: malignant neoplasm of male genital organ
has exact synonym: malignant neoplasm of male genital organ or tract
has exact synonym: malignant neoplasm of male genital organs
has exact synonym: malignant tumor of male Reproductive system
has exact synonym: malignant tumor of male genital organ
has exact synonym: neoplasm of male genital organ
has exact synonym: tumor of male Reproductive system
has OBO namespace: disease_ontology
has related synonym: male genital neoplasm
id: DOID:3856
in subset: NCIthesaurus

Axiom
annotated source: male reproductive organ cancer
annotated property: IAO_0000115
annotated target: A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Template:Male_genital_neoplasia
has db xref: url:http://www.wrongdiagnosis.com/g/genital_system_cancer/intro.htm

large cell medulloblastoma
type: Class
subclass of: medulloblastoma
IAO_0000115: A medulloblastoma that is characterized by cells that are larger than would be normally expected.
has db xref: ICDO:9474/3
has db xref: NCI:C6904
has db xref: ORDO:251855
has db xref: SNOMEDCT_US_2023_03_01:128790006
has db xref: UMLS_CUI:C1266180
has exact synonym: Anaplastic medulloblastoma
has OBO namespace: disease_ontology
id: DOID:3857
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: large cell medulloblastoma
annotated property: IAO_0000115
annotated target: A medulloblastoma that is characterized by cells that are larger than would be normally expected.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Large_cell

cerebellar vermis medulloblastoma
type: Class
subclass of: cerebellum cancer
has db xref: NCI:C5401
has db xref: UMLS_CUI:C1332903
has exact synonym: Vermis Medulloblastoma
has OBO namespace: disease_ontology
id: DOID:3860
in subset: NCIthesaurus

medullomyoblastoma
type: Class
subclass of: medulloblastoma
has db xref: ICDO:9472/3
has db xref: MESH:D008527
has db xref: NCI:C3706
has db xref: SNOMEDCT_US_2023_03_01:24604009
has db xref: UMLS_CUI:C0205833
has OBO namespace: disease_ontology
id: DOID:3861
in subset: DO cancer slim
in subset: NCIthesaurus

adult medulloblastoma
type: Class
subclass of: medulloblastoma
has alternative id: DOID:6380
has db xref: MESH:D008527
has db xref: NCI:C4011
has db xref: UMLS_CUI:C0278876
has exact synonym: adult brain medulloblastoma
has OBO namespace: disease_ontology
id: DOID:3864
in subset: NCIthesaurus

adult central nervous system embryonal tumor
type: Class
subclass of: central nervous system embryonal tumor
IAO_0000115: A central nervous system embryonal tumor that occurs in adults.
has db xref: NCI:C5411
has db xref: UMLS_CUI:C1332196
has exact synonym: adult CNS PNET
has exact synonym: adult central nervous system primitive neuroectodermal neoplasm
has OBO namespace: disease_ontology
id: DOID:3865
in subset: NCIthesaurus

Axiom
annotated source: adult central nervous system embryonal tumor
annotated property: IAO_0000115
annotated target: A central nervous system embryonal tumor that occurs in adults.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/33477185/

melanotic medulloblastoma
type: Class
subclass of: medulloblastoma
has db xref: MESH:D008527
has db xref: NCI:C9497
has db xref: SNOMEDCT_US_2023_03_01:83217000
has db xref: UMLS_CUI:C1275668
has exact synonym: Medulloblastoma, melanotic
has OBO namespace: disease_ontology
id: DOID:3868
in subset: NCIthesaurus

childhood medulloblastoma
type: Class
subclass of: medulloblastoma
has db xref: MESH:D008527
has db xref: NCI:C3997
has db xref: UMLS_CUI:C0278510
has exact synonym: pediatric Medulloblastoma
has OBO namespace: disease_ontology
id: DOID:3869
in subset: DO cancer slim
in subset: DO childhood cancer slim
in subset: NCIthesaurus

childhood central nervous system embryonal tumor
type: Class
subclass of: central nervous system embryonal tumor
IAO_0000115: A central nervous system embryonal tumor that occurs in childhood.
has db xref: NCI:C5961
has db xref: UMLS_CUI:C1332957
has exact synonym: childhood central nervous system primitive neuroectodermal neoplasm
has exact synonym: pediatric CNS PNET
has OBO namespace: disease_ontology
id: DOID:3870
in subset: DO cancer slim
in subset: DO childhood cancer slim
in subset: NCIthesaurus

Axiom
annotated source: childhood central nervous system embryonal tumor
annotated property: IAO_0000115
annotated target: A central nervous system embryonal tumor that occurs in childhood.
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6315657/

desmoplastic/nodular medulloblastoma
type: Class
subclass of: medulloblastoma
IAO_0000115: A medulloblastoma that is characterized by the presence of nodular, collagenous areas which do not contain reticulin, surrounded by hypercellular areas which contain an intercellular reticulin fiber network.
has db xref: ICDO:9471/3
has db xref: NCI:C5407
has db xref: SNOMEDCT_US_2023_03_01:733902001
has db xref: UMLS_CUI:C1334970
has exact synonym: Medulloblastoma with extensive nodularity
has exact synonym: desmoplastic nodular medulloblastoma
has exact synonym: nodular medulloblastoma
has OBO namespace: disease_ontology
id: DOID:3873
in subset: DO cancer slim
in subset: NCIthesaurus
comment: According to WHO ICDO Medulloblastoma with extensive nodularity is the same as desmoplastic nodular medulloblastoma.

Axiom
annotated source: desmoplastic/nodular medulloblastoma
annotated property: IAO_0000115
annotated target: A medulloblastoma that is characterized by the presence of nodular, collagenous areas which do not contain reticulin, surrounded by hypercellular areas which contain an intercellular reticulin fiber network.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/32304218/
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4910646/

thrombophlebitis
type: Class
subclass of: DOID 864
IAO_0000115: A phlebitis that results from a blood clot in the vessel.
has alternative id: DOID:1146
has db xref: ICD10CM:I80.0
has db xref: ICD9CM:451.0
has db xref: MESH:D013924
has db xref: NCI:C3410
has db xref: SNOMEDCT_US_2023_03_01:40283005
has db xref: SNOMEDCT_US_2023_03_01:64156001
has db xref: UMLS_CUI:C0040046
has db xref: UMLS_CUI:C0265057
has exact synonym: Phlebitis and thrombophlebitis of superficial vessels of lower extremities
has exact synonym: Superficial thrombophlebitis of leg
has exact synonym: Thrombophlebitis of a superficial leg vein
has exact synonym: Thrombophlebitis of superficial veins of lower extremity
has OBO namespace: disease_ontology
id: DOID:3875
in subset: NCIthesaurus

Axiom
annotated source: thrombophlebitis
annotated property: IAO_0000115
annotated target: A phlebitis that results from a blood clot in the vessel.
type: ECO_0007638
type: ECO_0007640
has db xref: url:http://en.wikipedia.org/wiki/Thrombophlebitis
has db xref: url:http://www.hopkinsmedicine.org/heart_vascular_institute/conditions_treatments/conditions/thrombophlebitis.html
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/001108.htm

Lynch syndrome
type: Class
subclass of: syndrome
IAO_0000115: A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers.
has alternative id: DOID:0050586
has alternative id: DOID:3040
has db xref: GARD:9905
has db xref: MESH:D003123
has db xref: MIM:PS120435
has db xref: NCI:C8494
has db xref: ORDO:144
has db xref: SNOMEDCT_US_2023_03_01:700064004
has db xref: UMLS_CUI:C0009405
has db xref: UMLS_CUI:C4552100
has exact synonym: HNPCC
has exact synonym: Hereditary Defective Mismatch Repair syndrome
has exact synonym: Hereditary non-polyposis colon cancer
has exact synonym: Hereditary non-polyposis colon cancer syndrome
has exact synonym: Hereditary non-polyposis colorectal cancer
has exact synonym: Hereditary non-polyposis colorectal cancer syndrome
has exact synonym: Hereditary nonpolyposis colon cancer
has exact synonym: Hereditary nonpolyposis colon cancer syndrome
has exact synonym: Hereditary nonpolyposis colorectal cancer syndrome
has exact synonym: hereditary nonpolyposis colorectal cancer
has exact synonym: hereditary nonpolyposis colorectal neoplasm
has OBO namespace: disease_ontology
id: DOID:3883
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].
broad match: NCI:C120083
broad match: ORDO:443909
broad match: UMLS_CUI:C1333990

Axiom
annotated source: Lynch syndrome
annotated property: IAO_0000115
annotated target: A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Hereditary_nonpolyposis_colorectal_cancer
has db xref: url:http://ghr.nlm.nih.gov/condition/lynch-syndrome

Axiom
annotated source: Lynch syndrome
annotated property: hasExactSynonym
annotated target: HNPCC
has synonym type: OMO_0003012

acute intermittent porphyria
type: Class
subclass of: porphyria
has db xref: GARD:5732
has db xref: MESH:D017118
has db xref: MIM:176000
has db xref: NCI:C84536
has db xref: SNOMEDCT_US_2023_03_01:190914003
has db xref: UMLS_CUI:C0162565
has exact synonym: AIP - acute intermittent porphyria
has exact synonym: Pyrroloporphyria
has exact synonym: porphyria intermittent acute
has OBO namespace: disease_ontology
id: DOID:3890
in subset: DO rare slim
in subset: NCIthesaurus

insulinoma
type: Class
subclass of: pancreatic cystadenoma
IAO_0000115: A pancreatic cystadenoma that is characterized by the overproduction of insulin.
has alternative id: DOID:3903
has db xref: GARD:3010
has db xref: ICDO:8151/3
has db xref: MESH:D007340
has db xref: MESH:D007516
has db xref: NCI:C65184
has db xref: NCI:C95598
has db xref: SNOMEDCT_US_2023_03_01:189586007
has db xref: SNOMEDCT_US_2023_03_01:25324008
has db xref: UMLS_CUI:C0021670
has db xref: UMLS_CUI:C0022134
has exact synonym: Insulin-Producing tumor of Islet cells
has exact synonym: Islet cell adenoma
has OBO namespace: disease_ontology
id: DOID:3892
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: insulinoma
annotated property: IAO_0000115
annotated target: A pancreatic cystadenoma that is characterized by the overproduction of insulin.
has db xref: url:https://en.wikipedia.org/wiki/Insulinoma

hidrocystoma
type: Class
subclass of: DOID 5876
has db xref: ICDO:8404/0
has db xref: MESH:D018251
has db xref: NCI:C3760
has db xref: SNOMEDCT_US_2023_03_01:80549000
has db xref: UMLS_CUI:C0206672
has exact synonym: Eccrine Cystadenoma
has exact synonym: Eccrine hidrocystoma of skin
has exact synonym: apocrine cystadenoma
has OBO namespace: disease_ontology
id: DOID:3893
in subset: NCIthesaurus

apocrine adenoma
type: Class
subclass of: DOID 5876
has db xref: ICDO:8401/0
has db xref: NCI:C4168
has db xref: SNOMEDCT_US_2023_03_01:307596009
has db xref: UMLS_CUI:C0334345
has exact synonym: tubular Apocrine adenoma
has OBO namespace: disease_ontology
id: DOID:3895
in subset: NCIthesaurus

hidradenoma
type: Class
subclass of: sweat gland benign neoplasm
IAO_0000115: A sweat gland benign neoplasm that is located_in an apical sweat gland.
has db xref: ICDO:8402/0
has db xref: MESH:D006607
has db xref: NCI:C7560
has db xref: SNOMEDCT_US_2023_03_01:81393009
has db xref: UMLS_CUI:C0019522
has exact synonym: Hidradenoma of skin
has exact synonym: Sweat gland adenoma
has exact synonym: Syringoadenoma
has OBO namespace: disease_ontology
id: DOID:3896
in subset: NCIthesaurus

Axiom
annotated source: hidradenoma
annotated property: IAO_0000115
annotated target: A sweat gland benign neoplasm that is located_in an apical sweat gland.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Hidradenoma

bronchus carcinoma
type: Class
subclass of: cancer
IAO_0000115: A bronchus cancer that has_material_basis_in epithelial cells.
has db xref: MESH:D002283
has db xref: NCI:C35875
has db xref: SNOMEDCT_US_2023_03_01:254622008
has db xref: UMLS_CUI:C0007121
has exact synonym: BC - Bronchogenic carcinoma
has OBO namespace: disease_ontology
id: DOID:3904
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: bronchus carcinoma
annotated property: IAO_0000115
annotated target: A bronchus cancer that has_material_basis_in epithelial cells.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Carcinoma

lung carcinoma
type: Class
subclass of: cancer
IAO_0000115: A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.
has db xref: EFO:0001071
has db xref: NCI:C4878
has db xref: SNOMEDCT_US_2023_03_01:154485001
has db xref: UMLS_CUI:C0684249
has exact synonym: cancer of lung
has OBO namespace: disease_ontology
has related synonym: carcinoma of lung
id: DOID:3905
in subset: DO cancer slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: lung carcinoma
annotated property: IAO_0000115
annotated target: A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.
type: ECO_0007637
has db xref: url:https://merck.com/mmpe/sec05/ch062/ch062b.html

lung squamous cell carcinoma
type: Class
subclass of: lung non-small cell carcinoma
IAO_0000115: A non-small cell lung carcinoma that has_material_basis_in the squamous cell.
has db xref: NCI:C3493
has db xref: SNOMEDCT_US_2023_03_01:254634000
has db xref: UMLS_CUI:C0149782
has exact synonym: Epidermoid cell carcinoma of the lung
has OBO namespace: disease_ontology
has related synonym: squamous cell carcinoma of lung
id: DOID:3907
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: lung squamous cell carcinoma
annotated property: IAO_0000115
annotated target: A non-small cell lung carcinoma that has_material_basis_in the squamous cell.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007641
has db xref: url:http://cancergenome.nih.gov/cancersselected/lungsquamouscell
has db xref: url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma
has db xref: url:http://en.wikipedia.org/wiki/Squamous_cell_carcinoma_of_the_lung
has db xref: url:http://www.cancer.gov/dictionary?CdrID=46595

lung non-small cell carcinoma
type: Class
subclass of: lung carcinoma
IAO_0000115: A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.
has db xref: EFO:0003060
has db xref: KEGG:05223
has db xref: MESH:D002289
has db xref: NCI:C2926
has db xref: SNOMEDCT_US_2023_03_01:254637007
has db xref: UMLS_CUI:C0007131
has exact synonym: NSCLC
has exact synonym: Non-small cell lung cancer
has exact synonym: non-small cell lung carcinoma
has OBO namespace: disease_ontology
id: DOID:3908
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: lung non-small cell carcinoma
annotated property: IAO_0000115
annotated target: A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Non-small-cell_lung_carcinoma

Axiom
annotated source: lung non-small cell carcinoma
annotated property: hasExactSynonym
annotated target: NSCLC
has synonym type: OMO_0003012

lung adenocarcinoma
type: Class
subclass of: lung non-small cell carcinoma
IAO_0000115: A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.
has alternative id: DOID:3909
has alternative id: DOID:4826
has db xref: EFO:0000571
has db xref: GARD:5742
has db xref: MESH:D000077192
has db xref: NCI:C27745
has db xref: NCI:C3512
has db xref: SNOMEDCT_US_2023_03_01:254626006
has db xref: UMLS_CUI:C0152013
has db xref: UMLS_CUI:C1335060
has exact synonym: bronchogenic lung adenocarcinoma
has exact synonym: nonsmall cell adenocarcinoma
has OBO namespace: disease_ontology
has related synonym: adenocarcinoma of lung
id: DOID:3910
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: lung adenocarcinoma
annotated property: IAO_0000115
annotated target: A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.
type: ECO_0007638
has db xref: url:http://cancergenome.nih.gov/cancersselected/lungadenocarcinoma
has db xref: url:http://en.wikipedia.org/wiki/Adenocarcinoma
has db xref: url:http://en.wikipedia.org/wiki/Adenocarcinoma_of_the_lung

progeria
type: Class
subclass of: syndrome
IAO_0000115: A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22.
has db xref: GARD:7467
has db xref: ICD10CM:E34.8
has db xref: MEDDRA:10036794
has db xref: MESH:D011371
has db xref: MIM:176670
has db xref: NCI:C34951
has db xref: ORDO:740
has db xref: SNOMEDCT_US_2023_03_01:190590004
has db xref: UMLS_CUI:C0033300
has exact synonym: HGPS
has exact synonym: Hutchinson Gilford syndrome
has exact synonym: Hutchinson-Gilford Progeria syndrome
has exact synonym: Hutchinson-Gilford disease
has OBO namespace: disease_ontology
id: DOID:3911
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: progeria
annotated property: IAO_0000115
annotated target: A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22.
type: ECO_0007645
has db xref: url:https://www.genome.gov/Genetic-Disorders/Progeria
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/12714972
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/16838330

Axiom
annotated source: progeria
annotated property: hasExactSynonym
annotated target: HGPS
has synonym type: OMO_0003012

pancreatic serous cystadenoma
type: Class
subclass of: pancreatic cystadenoma
has db xref: NCI:C5712
has db xref: SNOMEDCT_US_2023_03_01:690761000119100
has db xref: UMLS_CUI:C1335316
has OBO namespace: disease_ontology
id: DOID:3917
in subset: NCIthesaurus

pancreatic cystadenoma
type: Class
subclass of: organ system benign neoplasm
has db xref: NCI:C4374
has db xref: SNOMEDCT_US_2023_03_01:235967003
has db xref: UMLS_CUI:C0341486
has OBO namespace: disease_ontology
id: DOID:3918
in subset: NCIthesaurus

pancreatic serous cystic neoplasm
type: Class
subclass of: malignant exocrine pancreas neoplasm
has db xref: NCI:C41248
has db xref: UMLS_CUI:C1518875
has OBO namespace: disease_ontology
id: DOID:3919
in subset: NCIthesaurus

diffuse lipomatosis
type: Class
subclass of: skin disease
has db xref: NCI:C6504
has db xref: UMLS_CUI:C1333298
has OBO namespace: disease_ontology
id: DOID:3923
in subset: NCIthesaurus

steroid lipomatosis
type: Class
subclass of: skin disease
has db xref: NCI:C27487
has db xref: UMLS_CUI:C1336506
has OBO namespace: disease_ontology
id: DOID:3925
in subset: NCIthesaurus

mediastinal lipomatosis
type: Class
subclass of: skin disease
has db xref: NCI:C27488
has db xref: UMLS_CUI:C1334662
has OBO namespace: disease_ontology
id: DOID:3926
in subset: NCIthesaurus

pelvic lipomatosis
type: Class
subclass of: skin disease
has db xref: GARD:7350
has db xref: MESH:C535549
has db xref: NCI:C27486
has db xref: SNOMEDCT_US_2023_03_01:190802005
has db xref: UMLS_CUI:C0406608
has OBO namespace: disease_ontology
id: DOID:3927
in subset: DO rare slim
in subset: NCIthesaurus

adiposis dolorosa
type: Class
subclass of: skin disease
IAO_0000115: A lipomatosis characterized by characterized by painful folds of fatty (adipose) tissue or the growth of multiple noncancerous (benign) fatty tumors called lipomas.
has db xref: GARD:5750
has db xref: ICD10CM:E88.2
has db xref: MESH:D000274
has db xref: MIM:103200
has db xref: NCI:C84540
has db xref: SNOMEDCT_US_2023_03_01:71404003
has db xref: UMLS_CUI:C0001529
has exact synonym: Dercum disease
has OBO namespace: disease_ontology
id: DOID:3928
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: adiposis dolorosa
annotated property: IAO_0000115
annotated target: A lipomatosis characterized by characterized by painful folds of fatty (adipose) tissue or the growth of multiple noncancerous (benign) fatty tumors called lipomas.
type: ECO_0007645
has db xref: url:https://medlineplus.gov/genetics/condition/adiposis-dolorosa/
has db xref: url:https://www.genome.gov/Genetic-Disorders/Dercum-Disease

pituitary-dependent Cushing's disease
type: Class
subclass of: endocrine system disease
has db xref: ICD10CM:E24.0
has db xref: MESH:D047748
has db xref: NCI:C113210
has db xref: SNOMEDCT_US_2023_03_01:190502001
has db xref: UMLS_CUI:C0221406
has exact synonym: Overproduction of ACTH
has exact synonym: pituitary-dependent Cushing disease
has OBO namespace: disease_ontology
id: DOID:3946
in subset: NCIthesaurus

adrenal gland hyperfunction
type: Class
subclass of: DOID 9553
has db xref: MESH:D000308
has db xref: NCI:C113208
has db xref: SNOMEDCT_US_2023_03_01:47270006
has db xref: UMLS_CUI:C0001622
has exact synonym: Adrenocortical hyperfunction
has exact synonym: hyperadrenalism
has exact synonym: hypercortisolism
has OBO namespace: disease_ontology
id: DOID:3947
in subset: NCIthesaurus

adrenocortical carcinoma
type: Class
subclass of: DOID 660
IAO_0000115: An adrenal cortex cancer that forms in the outer layer of tissue of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
has db xref: GARD:558
has db xref: MESH:D018268
has db xref: MIM:202300
has db xref: NCI:C9325
has db xref: SNOMEDCT_US_2023_03_01:255035007
has db xref: UMLS_CUI:C0206686
has exact synonym: Adrenal cortical carcinoma
has exact synonym: carcinoma of the Adrenal cortex
has OBO namespace: disease_ontology
id: DOID:3948
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: adrenocortical carcinoma
annotated property: IAO_0000115
annotated target: An adrenal cortex cancer that forms in the outer layer of tissue of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
type: ECO_0007637
has db xref: url:http://cancergenome.nih.gov/cancersselected/AdrenocorticalCarcinoma
has db xref: url:http://www.cancer.gov/cancertopics/types/adrenocortical

acute myocarditis
type: Class
subclass of: DOID 820
has db xref: ICD10CM:I40
has db xref: ICD9CM:422
has db xref: NCI:C35206
has db xref: SNOMEDCT_US_2023_03_01:155336004
has db xref: UMLS_CUI:C0155686
has OBO namespace: disease_ontology
id: DOID:3951
in subset: NCIthesaurus

adrenal gland cancer
type: Class
subclass of: endocrine gland cancer
IAO_0000115: An endocrine gland cancer located_in the adrenal glands which are located above the kidneys.
has alternative id: DOID:11007
has db xref: GARD:5751
has db xref: ICD10CM:C74
has db xref: ICD9CM:194.0
has db xref: MESH:D000310
has db xref: NCI:C2859
has db xref: NCI:C9338
has db xref: SNOMEDCT_US_2023_03_01:127021009
has db xref: SNOMEDCT_US_2023_03_01:93665005
has db xref: UMLS_CUI:C0001624
has db xref: UMLS_CUI:C0750887
has exact synonym: adrenal cancer
has exact synonym: adrenal neoplasm
has exact synonym: malignant Adrenal tumor
has exact synonym: malignant neoplasm of adrenal gland
has exact synonym: neoplasm of adrenal gland
has exact synonym: tumor of the Adrenal gland
has OBO namespace: disease_ontology
id: DOID:3953
in subset: DO CFDE slim
in subset: DO rare slim
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim

Axiom
annotated source: adrenal gland cancer
annotated property: IAO_0000115
annotated target: An endocrine gland cancer located_in the adrenal glands which are located above the kidneys.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Adrenal_gland

Loeffler endocarditis
type: Class
subclass of: restrictive cardiomyopathy
IAO_0000115: A restrictive cardiomyopathy that affects the endocardium and occurs with white blood cell proliferation, specifically of eosinophils.
has db xref: ICD10CM:I42.3
has db xref: NCI:C27044
has db xref: SNOMEDCT_US_2023_03_01:33258008
has db xref: UMLS_CUI:C0264834
has exact synonym: Eosinophilic Endomyocardial disease
has OBO namespace: disease_ontology
id: DOID:396
in subset: NCIthesaurus

Axiom
annotated source: Loeffler endocarditis
annotated property: IAO_0000115
annotated target: A restrictive cardiomyopathy that affects the endocardium and occurs with white blood cell proliferation, specifically of eosinophils.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/L%C3%B6ffler%27s_endocarditis

follicular thyroid carcinoma
type: Class
subclass of: differentiated high-grade thyroid carcinoma
IAO_0000115: A differentiated thyroid gland carcinoma that has_material_basis_in follicular cells.
has db xref: ICD11:2D10.0
has db xref: ICDO:8330/3
has db xref: MESH:D018263
has db xref: MIM:188470
has db xref: NCI:C8054
has db xref: SNOMEDCT_US_2023_03_01:255028004
has db xref: UMLS_CUI:C0206682
has exact synonym: Follicular adenocarcinoma
has exact synonym: Follicular adenocarcinoma, well differentiated
has exact synonym: Follicular carcinoma
has exact synonym: Thyroid adenocarcinoma
has exact synonym: thyroid gland follicular carcinoma
has OBO namespace: disease_ontology
id: DOID:3962
in subset: DO cancer slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: follicular thyroid carcinoma
annotated property: IAO_0000115
annotated target: A differentiated thyroid gland carcinoma that has_material_basis_in follicular cells.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Follicular_thyroid_cancer

thyroid gland carcinoma
type: Class
subclass of: thyroid cancer
IAO_0000115: A thyroid gland cancer that has_material_basis_in epithelial cells.
has db xref: EFO:0002892
has db xref: MESH:D013964
has db xref: NCI:C4815
has db xref: UMLS_CUI:C0549473
has exact synonym: Thyroid carcinoma
has exact synonym: head and neck cancer, Thyroid
has OBO namespace: disease_ontology
id: DOID:3963
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: thyroid gland carcinoma
annotated property: IAO_0000115
annotated target: A thyroid gland cancer that has_material_basis_in epithelial cells.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Carcinoma

trabecular follicular adenocarcinoma
type: Class
subclass of: follicular thyroid carcinoma
has db xref: NCI:C46095
has db xref: SNOMEDCT_US_2023_03_01:72174007
has db xref: UMLS_CUI:C0334327
has exact synonym: Follicular adenocarcinoma, trabecular
has exact synonym: Trabecular Follicular carcinoma
has OBO namespace: disease_ontology
id: DOID:3964
in subset: NCIthesaurus

Merkel cell carcinoma
type: Class
subclass of: skin carcinoma
has db xref: GARD:9266
has db xref: ICDO:8247/3
has db xref: NCI:C4068
has db xref: SNOMEDCT_US_2023_03_01:29792007
has db xref: UMLS_CUI:C0302182
has exact synonym: Trabecular adenocarcinoma
has exact synonym: trabecular carcinoma
has OBO namespace: disease_ontology
id: DOID:3965
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

papillary thyroid carcinoma
type: Class
subclass of: differentiated high-grade thyroid carcinoma
subclass of: papillary adenocarcinoma
IAO_0000115: A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer and arises from the follicular cells of the thyroid gland.
has db xref: GARD:12027
has db xref: ICD11:2D10.1
has db xref: ICDO:8260/3
has db xref: MESH:D000077273
has db xref: MIM:188550
has db xref: NCI:C4035
has db xref: SNOMEDCT_US_2023_03_01:255029007
has db xref: UMLS_CUI:C0238463
has exact synonym: Papillary carcinoma of the Thyroid gland
has exact synonym: Papillary carcinoma of thyroid
has exact synonym: thyroid gland papillary carcinoma
has OBO namespace: disease_ontology
id: DOID:3969
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: papillary thyroid carcinoma
annotated property: IAO_0000115
annotated target: A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer and arises from the follicular cells of the thyroid gland.
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://cancergenome.nih.gov/cancersselected/thyroid
has db xref: url:http://en.wikipedia.org/wiki/Papillary_thyroid_cancer
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/21455196

restrictive cardiomyopathy
type: Class
subclass of: cardiomyopathy
IAO_0000115: An intrinsic cardiomyopathy characterized by impaired ventricular filling, with normal or decreased diastolic volume of either or both ventricles typically resulting from increased stiffness of the myocardium.
has db xref: ICD10CM:I42.5
has db xref: MESH:D002313
has db xref: MIM:PS115210
has db xref: NCI:C62798
has db xref: ORDO:75249
has db xref: SNOMEDCT_US_2023_03_01:389996009
has db xref: UMLS_CUI:C0007196
has exact synonym: Cardiomyopathy, constrictive
has exact synonym: primary restrictive cardiomyopathy
has OBO namespace: disease_ontology
has related synonym: Familial restrictive cardiomyopathy
id: DOID:397
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mappings 115210, 612422 added from NeuroDevNet [WAK].

Axiom
annotated source: restrictive cardiomyopathy
annotated property: IAO_0000115
annotated target: An intrinsic cardiomyopathy characterized by impaired ventricular filling, with normal or decreased diastolic volume of either or both ventricles typically resulting from increased stiffness of the myocardium.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/8995091

Axiom
annotated source: restrictive cardiomyopathy
annotated property: hasRelatedSynonym
annotated target: Familial restrictive cardiomyopathy
has db xref: MIM:115210

poorly differentiated thyroid carcinoma
type: Class
subclass of: thyroid gland carcinoma
IAO_0000115: A thyroid gland carcinoma characterized by intermediate follicular cell differentiation and either high mitotic activity or tumor necrosis.
has db xref: ICDO:8337/3
has db xref: NCI:C6040
has db xref: SNOMEDCT_US_2025_09_01:724552002
has db xref: UMLS_CUI:C1266050
has exact synonym: PDTC
has exact synonym: insular carcinoma
has exact synonym: poorly differentiated carcinoma of thyroid gland
has exact synonym: poorly differentiated thyroid gland carcinoma
has OBO namespace: disease_ontology
id: DOID:3972
in subset: NCIthesaurus

Axiom
annotated source: poorly differentiated thyroid carcinoma
annotated property: IAO_0000115
annotated target: A thyroid gland carcinoma characterized by intermediate follicular cell differentiation and either high mitotic activity or tumor necrosis.
type: ECO_0007645
has db xref: url:https://pmc.ncbi.nlm.nih.gov/articles/PMC6437626/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/16470605/

Axiom
annotated source: poorly differentiated thyroid carcinoma
annotated property: hasExactSynonym
annotated target: PDTC
has synonym type: OMO_0003012

medullary thyroid carcinoma
type: Class
subclass of: thyroid gland carcinoma
IAO_0000115: A thyroid gland carcinoma that has_material_basis_in parafollicular cells.
has db xref: ICDO:8345/3
has db xref: MESH:C536914
has db xref: NCI:C3879
has db xref: SNOMEDCT_US_2023_03_01:255032005
has db xref: UMLS_CUI:C0238462
has exact synonym: Medullary carcinoma of the Thyroid gland
has exact synonym: Parafollicular cell carcinoma
has exact synonym: Ultimobranchial thyroid tumor
has exact synonym: Ultimobranchial thyroid tumour
has exact synonym: thyroid gland medullary carcinoma
has OBO namespace: disease_ontology
id: DOID:3973
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: medullary thyroid carcinoma
annotated property: IAO_0000115
annotated target: A thyroid gland carcinoma that has_material_basis_in parafollicular cells.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Medullary_thyroid_cancer
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK459354/

pantothenate kinase-associated neurodegeneration
type: Class
subclass of: neurodegenerative disease
IAO_0000115: A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13.
has db xref: GARD:6564
has db xref: ICD10CM:G23.0
has db xref: MESH:D006211
has db xref: MIM:234200
has db xref: NCI:C8967
has db xref: ORDO:157850
has db xref: SNOMEDCT_US_2023_03_01:2992000
has db xref: UMLS_CUI:C0018523
has exact synonym: Hallervorden-Spatz disease
has exact synonym: Hallervorden-Spatz syndrome
has exact synonym: NBIA1
has exact synonym: Pigmentary pallidal degeneration
has exact synonym: brain Iron Accumulation type I syndrome
has exact synonym: neurodegeneration with brain iron accumulation 1
has OBO namespace: disease_ontology
id: DOID:3981
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: pantothenate kinase-associated neurodegeneration
annotated property: IAO_0000115
annotated target: A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Pantothenate_kinase-associated_neurodegeneration

Axiom
annotated source: pantothenate kinase-associated neurodegeneration
annotated property: hasExactSynonym
annotated target: NBIA1
has synonym type: OMO_0003012

Bartholin's gland transitional cell carcinoma
type: Class
subclass of: Bartholin's gland carcinoma
IAO_0000115: A Bartholin's gland carcinoma that derives_from transitional epithelial cells.
has db xref: NCI:C40297
has db xref: UMLS_CUI:C1511053
has exact synonym: Bartholin gland transitional cell carcinoma
has OBO namespace: disease_ontology
id: DOID:3998
in subset: NCIthesaurus

Axiom
annotated source: Bartholin's gland transitional cell carcinoma
annotated property: IAO_0000115
annotated target: A Bartholin's gland carcinoma that derives_from transitional epithelial cells.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/articles/PMC4081365/

Bartholin's gland carcinoma
type: Class
subclass of: vulva carcinoma
IAO_0000115: A vulva carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in Bartholin's gland.
has db xref: NCI:C9055
has db xref: SNOMEDCT_US_2023_03_01:399533005
has db xref: UMLS_CUI:C0349561
has exact synonym: Bartholin gland carcinoma
has exact synonym: carcinoma of Bartholin's gland
has OBO namespace: disease_ontology
id: DOID:3999
in subset: NCIthesaurus

Axiom
annotated source: Bartholin's gland carcinoma
annotated property: IAO_0000115
annotated target: A vulva carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in Bartholin's gland.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Bartholin%27s_gland
has db xref: url:http://en.wikipedia.org/wiki/Carcinoma

disease
type: Class
IAO_0000115: A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
has db xref: MESH:D004194
has db xref: NCI:C2991
has db xref: SNOMEDCT_US_2023_03_01:64572001
has db xref: UMLS_CUI:C0012634
has OBO namespace: disease_ontology
id: DOID:4
in subset: DO RAD slim
in subset: NCIthesaurus

Axiom
annotated source: disease
annotated property: IAO_0000115
annotated target: A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3041577/

ovary transitional cell carcinoma
type: Class
subclass of: ovary epithelial cancer
IAO_0000115: An ovarian epithelial cancer that derives_from epithelial transitional cells.
has alternative id: DOID:2637
has alternative id: DOID:4002
has db xref: NCI:C5240
has db xref: UMLS_CUI:C1335184
has exact synonym: malignant ovarian transitional cell neoplasm
has exact synonym: ovarian transitional cell cancer
has exact synonym: transitional cell carcinoma of Ovary
has OBO namespace: disease_ontology
has related synonym: ovarian transitional cell neoplasm
id: DOID:4000
in subset: NCIthesaurus

Axiom
annotated source: ovary transitional cell carcinoma
annotated property: IAO_0000115
annotated target: An ovarian epithelial cancer that derives_from epithelial transitional cells.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3362466/

Schneiderian carcinoma
type: Class
subclass of: maxillary sinus cancer
has db xref: ICDO:8121/3
has db xref: NCI:C54287
has db xref: SNOMEDCT_US_2023_03_01:5600009
has db xref: UMLS_CUI:C0334270
has exact synonym: Cylindrical cell carcinoma
has OBO namespace: disease_ontology
id: DOID:4003
in subset: NCIthesaurus

endometrial transitional cell carcinoma
type: Class
subclass of: endometrial carcinoma
IAO_0000115: An endometrial carcinoma that derives_from transitional epithelial cells.
has db xref: NCI:C40154
has db xref: UMLS_CUI:C1516864
has OBO namespace: disease_ontology
id: DOID:4005
in subset: NCIthesaurus

Axiom
annotated source: endometrial transitional cell carcinoma
annotated property: IAO_0000115
annotated target: An endometrial carcinoma that derives_from transitional epithelial cells.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Transitional_cell_carcinoma

bladder urothelial carcinoma
type: Class
subclass of: bladder carcinoma
IAO_0000115: A bladder carcinoma that has_material_basis_in transitional cells located_in the lining of the bladder.
has db xref: NCI:C39851
has db xref: SNOMEDCT_US_2023_03_01:393562002
has db xref: UMLS_CUI:C0279680
has exact synonym: bladder transitional cell carcinoma
has exact synonym: transitional cell carcinoma of bladder
has exact synonym: urinary bladder urothelial carcinoma
has exact synonym: urothelial bladder carcinoma
has OBO namespace: disease_ontology
id: DOID:4006
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: bladder urothelial carcinoma
annotated property: IAO_0000115
annotated target: A bladder carcinoma that has_material_basis_in transitional cells located_in the lining of the bladder.
type: ECO_0007637
type: ECO_0007641
has db xref: url:http://cancergenome.nih.gov/cancersselected/UrothelialBladderCarcinoma
has db xref: url:http://www.cancer.gov/dictionary?cdrid=46629

bladder carcinoma
type: Class
subclass of: urinary bladder cancer
IAO_0000115: A urinary bladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
has db xref: NCI:C4912
has db xref: SNOMEDCT_US_2023_03_01:269607003
has db xref: UMLS_CUI:C0699885
has exact synonym: carcinoma of urinary bladder
has OBO namespace: disease_ontology
id: DOID:4007
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: bladder carcinoma
annotated property: IAO_0000115
annotated target: A urinary bladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
has db xref: url:https://www.mayoclinic.org/diseases-conditions/bladder-cancer/symptoms-causes/syc-20356104

fallopian tube transitional cell carcinoma
type: Class
subclass of: fallopian tube carcinoma
IAO_0000115: A fallopian tube carcinoma that derives_from epithelial transitional cells.
has db xref: NCI:C40104
has db xref: UMLS_CUI:C1517128
has OBO namespace: disease_ontology
id: DOID:4008
in subset: NCIthesaurus

Axiom
annotated source: fallopian tube transitional cell carcinoma
annotated property: IAO_0000115
annotated target: A fallopian tube carcinoma that derives_from epithelial transitional cells.
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/26894303/

multidrug-resistant tuberculosis
type: Class
subclass of: bacterial infectious disease
IAO_0000115: A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs.
has db xref: MESH:D018088
has db xref: NCI:C128415
has db xref: SNOMEDCT_US_2023_03_01:423092005
has db xref: UMLS_CUI:C0206526
has OBO namespace: disease_ontology
id: DOID:401
in subset: DO infectious disease slim
in subset: NCIthesaurus
in subset: gram-positive bacterial infectious disease

Axiom
annotated source: multidrug-resistant tuberculosis
annotated property: IAO_0000115
annotated target: A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Multidrug-resistant_tuberculosis

papillary transitional carcinoma
type: Class
subclass of: transitional cell carcinoma
IAO_0000115: A transitional cell carcinoma that has several papillary fronds with central fibrovascular core lined by transitional type epithelium.
has db xref: NCI:C4122
has db xref: SNOMEDCT_US_2023_03_01:12400006
has db xref: UMLS_CUI:C0334274
has exact synonym: Papillary transitional cell carcinoma
has OBO namespace: disease_ontology
id: DOID:4012
in subset: NCIthesaurus

Axiom
annotated source: papillary transitional carcinoma
annotated property: IAO_0000115
annotated target: A transitional cell carcinoma that has several papillary fronds with central fibrovascular core lined by transitional type epithelium.
has db xref: url:https://www.healthline.com/health/papillary-urothelial-carcinoma

urethra transitional cell carcinoma
type: Class
subclass of: DOID 734
IAO_0000115: An urethra cancer that is characterized by cancer cells forming in the renal pelvis and ureter.
has db xref: NCI:C6166
has db xref: UMLS_CUI:C0863015
has exact synonym: urethral transitional cell carcinoma
has OBO namespace: disease_ontology
id: DOID:4013
in subset: NCIthesaurus

Axiom
annotated source: urethra transitional cell carcinoma
annotated property: IAO_0000115
annotated target: An urethra cancer that is characterized by cancer cells forming in the renal pelvis and ureter.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/31950597/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/9730148/

sarcomatoid transitional cell carcinoma
type: Class
subclass of: transitional cell carcinoma
IAO_0000115: A transitional cell carcinoma that has sarcoma-like components arising from the malignant transitional epithelium.
has db xref: NCI:C4120
has db xref: SNOMEDCT_US_2023_03_01:112676006
has db xref: UMLS_CUI:C0334271
has exact synonym: transitional cell carcinoma, sarcomatoid
has exact synonym: transitional spindle cell carcinoma
has OBO namespace: disease_ontology
id: DOID:4014
in subset: NCIthesaurus

Axiom
annotated source: sarcomatoid transitional cell carcinoma
annotated property: IAO_0000115
annotated target: A transitional cell carcinoma that has sarcoma-like components arising from the malignant transitional epithelium.
type: ECO_0007645
has db xref: url:http://www.sciencedirect.com/science/article/pii/S0090429505013439
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/16504263/

sarcomatoid carcinoma
type: Class
subclass of: carcinoma
IAO_0000115: A carcinoma that is characterized by the presence of spindle cells and anaplastic morphologic features.
has db xref: MESH:D002277
has db xref: NCI:C27004
has db xref: SNOMEDCT_US_2023_03_01:65692009
has db xref: UMLS_CUI:C0205697
has exact synonym: spindle cell carcinoma
has OBO namespace: disease_ontology
id: DOID:4015
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: sarcomatoid carcinoma
annotated property: IAO_0000115
annotated target: A carcinoma that is characterized by the presence of spindle cells and anaplastic morphologic features.
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27004

ureterocele
type: Class
subclass of: ureteral disease
IAO_0000115: A ureteral disease that is characterized_as a congenital anomaly in which the distal end of the ureter swells as it enters the bladder.
has db xref: MESH:D014518
has db xref: MIM:191650
has db xref: NCI:C123159
has db xref: SNOMEDCT_US_2023_03_01:12818004
has db xref: UMLS_CUI:C0041960
has OBO namespace: disease_ontology
id: DOID:4022
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: ureterocele
annotated property: IAO_0000115
annotated target: A ureteral disease that is characterized_as a congenital anomaly in which the distal end of the ureter swells as it enters the bladder.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/23969704

linitis plastica
type: Class
subclass of: DOID 6217
has db xref: ICDO:8142/3
has db xref: MESH:D008039
has db xref: NCI:C3190
has db xref: SNOMEDCT_US_2023_03_01:307594007
has db xref: UMLS_CUI:C0023743
has exact synonym: Leather-bottle stomach
has OBO namespace: disease_ontology
id: DOID:4023
in subset: NCIthesaurus

scirrhous adenocarcinoma
type: Class
subclass of: adenocarcinoma
IAO_0000115: An adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma.
has db xref: ICDO:8141/3
has db xref: MESH:D002293
has db xref: NCI:C2928
has db xref: SNOMEDCT_US_2023_03_01:4584002
has db xref: UMLS_CUI:C0007135
has exact synonym: adenocarcinoma with Productive Fibrosis
has OBO namespace: disease_ontology
id: DOID:4024
in subset: NCIthesaurus

Axiom
annotated source: scirrhous adenocarcinoma
annotated property: IAO_0000115
annotated target: An adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/34084475/

angioma serpiginosum
type: Class
subclass of: DOID 471
IAO_0000115: A skin hemangioma that is characterized by the presence of small red dots that cluster together to form a linear or snake-like array or ring-shaped pattern located_in the blood vessels of the skin.
has db xref: ICD10CM:L81.7
has db xref: MIM:106050
has db xref: MIM:300652
has db xref: NCI:C3926
has db xref: ORDO:95429
has db xref: SNOMEDCT_US_2023_03_01:49465005
has db xref: UMLS_CUI:C0263637
has exact synonym: Angioma serpiginosum of skin
has OBO namespace: disease_ontology
id: DOID:4028
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: angioma serpiginosum
annotated property: IAO_0000115
annotated target: A skin hemangioma that is characterized by the presence of small red dots that cluster together to form a linear or snake-like array or ring-shaped pattern located_in the blood vessels of the skin.
type: ECO_0007637
has db xref: url:http://www.dermnetnz.org/vascular/angioma-serpiginosa.html

gastritis
type: Class
subclass of: DOID 76
IAO_0000115: A stomach disease that is an inflammation of the lining of the stomach.
has alternative id: DOID:4032
has alternative id: DOID:8697
has alternative id: DOID:8845
has alternative id: DOID:9190
has db xref: ICD10CM:K29.7
has db xref: MESH:D005756
has db xref: NCI:C26780
has db xref: SNOMEDCT_US_2023_03_01:155711008
has db xref: UMLS_CUI:C0017152
has exact synonym: Erosive Gastritis
has exact synonym: Erosive gastropathy
has exact synonym: acute gastric mucosal erosion
has OBO namespace: disease_ontology
id: DOID:4029
in subset: NCIthesaurus

Axiom
annotated source: gastritis
annotated property: IAO_0000115
annotated target: A stomach disease that is an inflammation of the lining of the stomach.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Gastritis

mouth disease
type: Class
subclass of: disease
IAO_0000115: A gastrointestinal system disease that is located_in the mouth.
has db xref: MESH:D009059
has db xref: NCI:C27641
has db xref: SNOMEDCT_US_2023_03_01:118938008
has db xref: UMLS_CUI:C0026636
has OBO namespace: disease_ontology
id: DOID:403
in subset: DO RAD slim
in subset: NCIthesaurus

Axiom
annotated source: mouth disease
annotated property: IAO_0000115
annotated target: A gastrointestinal system disease that is located_in the mouth.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Oral_and_maxillofacial_pathology

eosinophilic gastritis
type: Class
subclass of: gastritis
has db xref: ICD9CM:535.7
has db xref: NCI:C27052
has db xref: SNOMEDCT_US_2023_03_01:196738004
has db xref: UMLS_CUI:C0267154
has OBO namespace: disease_ontology
id: DOID:4030
in subset: NCIthesaurus

eosinophilic gastroenteritis
type: Class
subclass of: gastroenteritis
has db xref: ICD9CM:558.41
has db xref: NCI:C35330
has db xref: SNOMEDCT_US_2023_03_01:359804008
has db xref: UMLS_CUI:C1262481
has OBO namespace: disease_ontology
id: DOID:4031
in subset: NCIthesaurus

bacterial gastritis
type: Class
subclass of: gastritis
IAO_0000115: A gastritis that involves inflammation of the stomach lining caused by bacteria. The disease has_symptom abdominal pain, has_symptom indigestion, has_symptom ulcer formation, has_symptom abdominal bloating, has_symptom nausea and has_symptom vomiting.
has db xref: NCI:C27340
has db xref: SNOMEDCT_US_2023_03_01:723096000
has db xref: UMLS_CUI:C0948039
has OBO namespace: disease_ontology
id: DOID:4033
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: bacterial gastritis
annotated property: IAO_0000115
annotated target: A gastritis that involves inflammation of the stomach lining caused by bacteria. The disease has_symptom abdominal pain, has_symptom indigestion, has_symptom ulcer formation, has_symptom abdominal bloating, has_symptom nausea and has_symptom vomiting.
type: ECO_0007637
has db xref: url:http://www.merck.com/mmhe/sec09/ch121/ch121b.html
has db xref: url:https://www.niddk.nih.gov/health-information/digestive-diseases/gastritis-gastropathy/definition-facts

fungal gastritis
type: Class
subclass of: gastritis
IAO_0000115: A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by fungal infection in immunocompromised patients.
has db xref: NCI:C27342
has db xref: SNOMEDCT_US_2023_03_01:723097009
has db xref: UMLS_CUI:C0948638
has OBO namespace: disease_ontology
id: DOID:4034
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: fungal gastritis
annotated property: IAO_0000115
annotated target: A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by fungal infection in immunocompromised patients.
type: ECO_0007637
has db xref: url:http://www.merck.com/mmpe/sec02/ch013/ch013c.html

lymphocytic gastritis
type: Class
subclass of: gastritis
has db xref: NCI:C27051
has db xref: SNOMEDCT_US_2023_03_01:235658000
has db xref: UMLS_CUI:C1283271
has OBO namespace: disease_ontology
id: DOID:4035
in subset: NCIthesaurus

necrotizing gastritis
type: Class
subclass of: gastritis
has db xref: NCI:C27329
has db xref: UMLS_CUI:C0877152
has OBO namespace: disease_ontology
id: DOID:4037
in subset: NCIthesaurus

granulomatous gastritis
type: Class
subclass of: gastritis
has db xref: ICD10CM:K29.6
has db xref: NCI:C27348
has db xref: UMLS_CUI:C1112577
has OBO namespace: disease_ontology
id: DOID:4038
in subset: NCIthesaurus

skeletal muscle cancer
type: Class
subclass of: muscle cancer
has db xref: NCI:C6516
has db xref: UMLS_CUI:C1334619
has exact synonym: malignant tumor of Skeletal Muscle
has OBO namespace: disease_ontology
id: DOID:4043
in subset: NCIthesaurus

skeletal muscle neoplasm
type: Class
subclass of: DOID 461
has db xref: NCI:C6514
has db xref: SNOMEDCT_US_2023_03_01:699955004
has db xref: UMLS_CUI:C1335971
has exact synonym: tumor of Skeletal Muscle
has OBO namespace: disease_ontology
id: DOID:4044
in subset: NCIthesaurus

muscle cancer
type: Class
subclass of: cancer
IAO_0000115: A musculoskeletal system cancer that is located_in muscle.
has alternative id: DOID:4046
has db xref: ICD10CM:C49
has db xref: MESH:D009217
has db xref: MESH:D019042
has db xref: NCI:C4883
has db xref: SNOMEDCT_US_2023_03_01:20667008
has db xref: SNOMEDCT_US_2023_03_01:93913006
has db xref: UMLS_CUI:C0027095
has db xref: UMLS_CUI:C0684743
has exact synonym: malignant neoplasm of muscle
has exact synonym: malignant tumor of muscle
has exact synonym: malignant tumor of the Muscle
has exact synonym: myosarcoma
has OBO namespace: disease_ontology
id: DOID:4045
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim

Axiom
annotated source: muscle cancer
annotated property: IAO_0000115
annotated target: A musculoskeletal system cancer that is located_in muscle.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Muscle

liver rhabdomyosarcoma
type: Class
subclass of: liver sarcoma
IAO_0000115: A rhabdomyosarcoma and sarcoma of liver that are located_in the liver.
has db xref: NCI:C5834
has db xref: UMLS_CUI:C1333975
has exact synonym: Rhabdomyosarcoma of Liver
has OBO namespace: disease_ontology
id: DOID:4047
in subset: NCIthesaurus

Axiom
annotated source: liver rhabdomyosarcoma
annotated property: IAO_0000115
annotated target: A rhabdomyosarcoma and sarcoma of liver that are located_in the liver.
type: ECO_0007637
has db xref: url:http://www.cancer.gov/cancertopics/pdq/treatment/childrhabdomyosarcoma/HealthProfessional/page6

central nervous system rhabdomyosarcoma
type: Class
subclass of: rhabdomyosarcoma
has db xref: NCI:C5464
has db xref: UMLS_CUI:C1332891
has exact synonym: Rhabdomyosarcoma of the CNS
has OBO namespace: disease_ontology
id: DOID:4048
in subset: NCIthesaurus

mediastinum rhabdomyosarcoma
type: Class
subclass of: rhabdomyosarcoma
IAO_0000115: A rhabdomyosarcoma that is located_in the mediastinum and affects children and adolescents.
has db xref: NCI:C6617
has db xref: UMLS_CUI:C1334677
has exact synonym: Rhabdomyosarcoma of mediastinum
has OBO namespace: disease_ontology
id: DOID:4049
in subset: NCIthesaurus

Axiom
annotated source: mediastinum rhabdomyosarcoma
annotated property: IAO_0000115
annotated target: A rhabdomyosarcoma that is located_in the mediastinum and affects children and adolescents.
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/28024111/

mediastinum sarcoma
type: Class
subclass of: DOID 5559
IAO_0000115: A sarcoma and malignant mediastinal mesenchymnal tumor that is located_in the mediastinum.
has db xref: NCI:C6606
has db xref: UMLS_CUI:C1334678
has exact synonym: sarcoma of mediastinum
has OBO namespace: disease_ontology
id: DOID:4050
in subset: NCIthesaurus

Axiom
annotated source: mediastinum sarcoma
annotated property: IAO_0000115
annotated target: A sarcoma and malignant mediastinal mesenchymnal tumor that is located_in the mediastinum.
has db xref: url:https://www.sciencedirect.com/science/article/pii/S1556086415305220

alveolar rhabdomyosarcoma
type: Class
subclass of: rhabdomyosarcoma
has alternative id: DOID:4382
has db xref: GARD:4701
has db xref: ICDO:8920/3
has db xref: MESH:D018232
has db xref: MIM:268220
has db xref: NCI:C3749
has db xref: NCI:C7958
has db xref: SNOMEDCT_US_2023_03_01:404053004
has db xref: UMLS_CUI:C0206655
has db xref: UMLS_CUI:C0279613
has exact synonym: alveolar childhood rhabdomyosarcoma
has OBO namespace: disease_ontology
id: DOID:4051
in subset: DO FlyBase slim
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

rectum rhabdomyosarcoma
type: Class
subclass of: rectum sarcoma
IAO_0000115: A rectum sarcoma that is located_in the rectum in which the cancer cells are thought to arise from skeletal muscle progenitors.
has db xref: NCI:C5627
has db xref: UMLS_CUI:C1335687
has exact synonym: Rhabdomyosarcoma of rectum
has OBO namespace: disease_ontology
id: DOID:4053
in subset: NCIthesaurus

Axiom
annotated source: rectum rhabdomyosarcoma
annotated property: IAO_0000115
annotated target: A rectum sarcoma that is located_in the rectum in which the cancer cells are thought to arise from skeletal muscle progenitors.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Rhabdomyosarcoma

prostate sarcoma
type: Class
subclass of: prostate cancer
IAO_0000115: A prostate cancer that is located_in the prostate.
has db xref: NCI:C7731
has db xref: UMLS_CUI:C0238393
has exact synonym: sarcoma of the prostate
has OBO namespace: disease_ontology
id: DOID:4054
in subset: NCIthesaurus

Axiom
annotated source: prostate sarcoma
annotated property: IAO_0000115
annotated target: A prostate cancer that is located_in the prostate.
has db xref: url:https://radiopaedia.org/articles/prostate-sarcoma

ectomesenchymoma
type: Class
subclass of: central nervous system cancer
has db xref: ICDO:8921/3
has db xref: NCI:C4716
has db xref: SNOMEDCT_US_2023_03_01:128750008
has db xref: UMLS_CUI:C0431111
has exact synonym: Rhabdomyosarcoma with ganglionic differentiation
has OBO namespace: disease_ontology
id: DOID:4055
in subset: DO cancer slim
in subset: NCIthesaurus

gallbladder rhabdomyosarcoma
type: Class
subclass of: rhabdomyosarcoma
IAO_0000115: A gallbladder sarcoma that is located_in the gallbladder that has_material_basis_in cells that normally develop into skeletal (voluntary) muscles.
has db xref: NCI:C5839
has db xref: UMLS_CUI:C1333756
has exact synonym: Rhabdomyosarcoma of the gallbladder
has OBO namespace: disease_ontology
id: DOID:4057
in subset: NCIthesaurus

Axiom
annotated source: gallbladder rhabdomyosarcoma
annotated property: IAO_0000115
annotated target: A gallbladder sarcoma that is located_in the gallbladder that has_material_basis_in cells that normally develop into skeletal (voluntary) muscles.
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/Rhabdomyosarcoma
has db xref: url:https://gut.bmj.com/content/35/6/854

gallbladder sarcoma
type: Class
subclass of: gallbladder cancer
IAO_0000115: A sarcoma that is located_in the gallbladder.
has db xref: NCI:C5736
has db xref: UMLS_CUI:C1333757
has exact synonym: malignant mesenchymal tumor of gallbladder
has OBO namespace: disease_ontology
id: DOID:4058
in subset: NCIthesaurus

Axiom
annotated source: gallbladder sarcoma
annotated property: IAO_0000115
annotated target: A sarcoma that is located_in the gallbladder.
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/19194282

ovary rhabdomyosarcoma
type: Class
subclass of: rhabdomyosarcoma
IAO_0000115: An ovary sarcoma that arises from skeletal muscle progenitors.
has db xref: NCI:C5236
has db xref: UMLS_CUI:C1335176
has exact synonym: Rhabdomyosarcoma of Ovary
has OBO namespace: disease_ontology
id: DOID:4059
in subset: NCIthesaurus

Axiom
annotated source: ovary rhabdomyosarcoma
annotated property: IAO_0000115
annotated target: An ovary sarcoma that arises from skeletal muscle progenitors.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/9553806

breast rhabdomyosarcoma
type: Class
subclass of: breast sarcoma
IAO_0000115: A breast sarcoma that arises from skeletal muscle cells.
has db xref: NCI:C5190
has db xref: UMLS_CUI:C1332637
has exact synonym: Rhabdomyosarcoma of the breast
has OBO namespace: disease_ontology
id: DOID:4060
in subset: NCIthesaurus

Axiom
annotated source: breast rhabdomyosarcoma
annotated property: IAO_0000115
annotated target: A breast sarcoma that arises from skeletal muscle cells.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Rhabdomyosarcoma

testis rhabdomyosarcoma
type: Class
subclass of: testis sarcoma
IAO_0000115: A testis sarcoma that arises from mesenchymal cells and is located_in the testis.
has db xref: NCI:C6378
has db xref: UMLS_CUI:C1336726
has exact synonym: Rhabdomyosarcoma of testis
has OBO namespace: disease_ontology
id: DOID:4061
in subset: NCIthesaurus

Axiom
annotated source: testis rhabdomyosarcoma
annotated property: IAO_0000115
annotated target: A testis sarcoma that arises from mesenchymal cells and is located_in the testis.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/21470524

testis sarcoma
type: Class
subclass of: testicular cancer
IAO_0000115: A sarcoma and malignant neoplasm of testis that is located_in the testis.
has db xref: NCI:C6359
has db xref: UMLS_CUI:C1336727
has exact synonym: sarcoma of testis
has OBO namespace: disease_ontology
id: DOID:4062
in subset: NCIthesaurus

Axiom
annotated source: testis sarcoma
annotated property: IAO_0000115
annotated target: A sarcoma and malignant neoplasm of testis that is located_in the testis.
has db xref: url:https://jamanetwork.com/journals/jama/fullarticle/462919

bile duct sarcoma
type: Class
subclass of: DOID 4606
IAO_0000115: A sarcoma and malignant tumor of extrahepatic bile duct that is located_in the bile duct.
has db xref: NCI:C5029
has db xref: UMLS_CUI:C2205442
has exact synonym: sarcoma of the bile duct
has OBO namespace: disease_ontology
id: DOID:4064
in subset: NCIthesaurus

Axiom
annotated source: bile duct sarcoma
annotated property: IAO_0000115
annotated target: A sarcoma and malignant tumor of extrahepatic bile duct that is located_in the bile duct.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Sarcoma_botryoides

anus rhabdomyosarcoma
type: Class
subclass of: rhabdomyosarcoma
IAO_0000115: A rhabdomyosarcoma and sarcoma of the anus that is located_in the anus.
has db xref: NCI:C5610
has db xref: UMLS_CUI:C1332276
has exact synonym: rhabdomyosarcoma of anus
has OBO namespace: disease_ontology
id: DOID:4066
in subset: NCIthesaurus

Axiom
annotated source: anus rhabdomyosarcoma
annotated property: IAO_0000115
annotated target: A rhabdomyosarcoma and sarcoma of the anus that is located_in the anus.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422314/

anus sarcoma
type: Class
subclass of: anus cancer
IAO_0000115: A sarcoma and malignant neoplasm of anus that is located_in the anus.
has db xref: NCI:C5611
has db xref: UMLS_CUI:C1332277
has exact synonym: sarcoma of anus
has OBO namespace: disease_ontology
id: DOID:4067
in subset: NCIthesaurus

Axiom
annotated source: anus sarcoma
annotated property: IAO_0000115
annotated target: A sarcoma and malignant neoplasm of anus that is located_in the anus.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Sarcoma

pancreatic cystadenocarcinoma
type: Class
subclass of: pancreatic adenocarcinoma
has db xref: NCI:C3874
has db xref: SNOMEDCT_US_2023_03_01:235966007
has db xref: UMLS_CUI:C0238337
has exact synonym: cystadenocarcinoma of pancreas
has OBO namespace: disease_ontology
id: DOID:4073
in subset: NCIthesaurus

pancreatic adenocarcinoma
type: Class
subclass of: DOID 4905
IAO_0000115: A pancreatic carcinoma that derives_from epithelial cells of glandular origin.
has db xref: NCI:C8294
has db xref: SNOMEDCT_US_2023_03_01:700423003
has db xref: UMLS_CUI:C0281361
has exact synonym: pancreas adenocarcinoma
has OBO namespace: disease_ontology
has related synonym: adenocarcinoma of the pancreas
id: DOID:4074
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: pancreatic adenocarcinoma
annotated property: IAO_0000115
annotated target: A pancreatic carcinoma that derives_from epithelial cells of glandular origin.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Adenocarcinoma

bile duct cystadenocarcinoma
type: Class
subclass of: DOID 4896
has db xref: ICDO:8161/3
has db xref: NCI:C4130
has db xref: SNOMEDCT_US_2023_03_01:50422007
has db xref: UMLS_CUI:C0334286
has exact synonym: biliary cystadenocarcinoma
has OBO namespace: disease_ontology
id: DOID:4075
in subset: NCIthesaurus

tricuspid valve stenosis
type: Class
subclass of: heart valve disease
IAO_0000115: A tricuspid valve disease that is characterized by the narrowing of the orifice of the tricuspid valve of the heart. This causes increased resistance to blood flow through the valve.
has db xref: MESH:D014264
has db xref: NCI:C50783
has db xref: SNOMEDCT_US_2023_03_01:49915006
has db xref: UMLS_CUI:C0040963
has exact synonym: Tricuspid stenosis
has OBO namespace: disease_ontology
id: DOID:4078
in subset: NCIthesaurus

Axiom
annotated source: tricuspid valve stenosis
annotated property: IAO_0000115
annotated target: A tricuspid valve disease that is characterized by the narrowing of the orifice of the tricuspid valve of the heart. This causes increased resistance to blood flow through the valve.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Tricuspid_valve_stenosis

heart valve disease
type: Class
subclass of: heart disease
IAO_0000115: A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right).
has alternative id: DOID:989
has db xref: MESH:D006349
has db xref: MESH:D016127
has db xref: NCI:C45525
has db xref: SNOMEDCT_US_2023_03_01:368009
has db xref: SNOMEDCT_US_2023_03_01:398995000
has db xref: UMLS_CUI:C0018824
has db xref: UMLS_CUI:C0079485
has exact synonym: Valvular heart disease
has OBO namespace: disease_ontology
id: DOID:4079
in subset: DO RAD slim
in subset: NCIthesaurus

Axiom
annotated source: heart valve disease
annotated property: IAO_0000115
annotated target: A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right).
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Heart_valve_disease

tricuspid valve insufficiency
type: Class
subclass of: heart valve disease
IAO_0000115: A tricuspid valve disease that is characterized by failure of the heart's tricuspid valve to close properly during systole. As a result, with each heart beat, blood is pumped out from the right side of the heart in the opposite direction to normal.
has db xref: MESH:D014262
has db xref: NCI:C50842
has db xref: SNOMEDCT_US_2023_03_01:111287006
has db xref: UMLS_CUI:C0040961
has exact synonym: Tricuspid incompetence
has exact synonym: Tricuspid regurgitation
has exact synonym: Tricuspid valve regurgitation
has OBO namespace: disease_ontology
id: DOID:4080
in subset: NCIthesaurus

Axiom
annotated source: tricuspid valve insufficiency
annotated property: IAO_0000115
annotated target: A tricuspid valve disease that is characterized by failure of the heart's tricuspid valve to close properly during systole. As a result, with each heart beat, blood is pumped out from the right side of the heart in the opposite direction to normal.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Tricuspid_insufficiency

testicular trophoblastic tumor
type: Class
subclass of: testicular cancer
has db xref: NCI:C39934
has db xref: UMLS_CUI:C1515301
has OBO namespace: disease_ontology
id: DOID:4084
in subset: NCIthesaurus

trophoblastic neoplasm
type: Class
subclass of: germ cell cancer
IAO_0000115: A germ cell and embryonal cancer that derives_from trophoblastic tissue.
has db xref: MESH:D014328
has db xref: NCI:C3422
has db xref: SNOMEDCT_US_2023_03_01:115234004
has db xref: UMLS_CUI:C0041182
has exact synonym: Trophoblastic tumor
has OBO namespace: disease_ontology
id: DOID:4085
in subset: NCIthesaurus

Axiom
annotated source: trophoblastic neoplasm
annotated property: IAO_0000115
annotated target: A germ cell and embryonal cancer that derives_from trophoblastic tissue.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Trophoblastic_neoplasm

testicular pure germ cell tumor
type: Class
subclass of: DOID 5557
has db xref: NCI:C39915
has db xref: UMLS_CUI:C1514608
has OBO namespace: disease_ontology
id: DOID:4087
in subset: NCIthesaurus

liver disease
type: Class
subclass of: hepatobiliary disease
has alternative id: DOID:2164
has alternative id: DOID:2165
has alternative id: DOID:46
has db xref: ICD10CM:K76.9
has db xref: ICD9CM:573.9
has db xref: MESH:D008107
has db xref: NCI:C3196
has db xref: SNOMEDCT_US_2023_03_01:62857009
has db xref: UMLS_CUI:C0023895
has exact synonym: disorder of liver
has exact synonym: hepatic disorder
has OBO namespace: disease_ontology
id: DOID:409
in subset: DO RAD slim
in subset: NCIthesaurus

agnosia
type: Class
subclass of: communication disorder
IAO_0000115: A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss.
has alternative id: DOID:4019
has db xref: GARD:8
has db xref: ICD10CM:R48.1
has db xref: MESH:D000377
has db xref: NCI:C84542
has db xref: SNOMEDCT_US_2023_03_01:42341009
has db xref: UMLS_CUI:C0001816
has exact synonym: Dyspraxia
has exact synonym: Dyspraxia syndrome
has OBO namespace: disease_ontology
id: DOID:4090
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: agnosia
annotated property: IAO_0000115
annotated target: A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Agnosia

cervical adenosarcoma
type: Class
subclass of: cervical carcinosarcoma
IAO_0000115: A cervical carcinosarcoma that is located_in the cervix.
has db xref: NCI:C40229
has db xref: SNOMEDCT_US_2023_03_01:764847000
has db xref: UMLS_CUI:C1516426
has exact synonym: cervical Muellerian adenosarcoma
has exact synonym: cervical Mullerian adenosarcoma
has OBO namespace: disease_ontology
id: DOID:4111
in subset: NCIthesaurus

Axiom
annotated source: cervical adenosarcoma
annotated property: IAO_0000115
annotated target: A cervical carcinosarcoma that is located_in the cervix.
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/17292949/

cervical carcinosarcoma
type: Class
subclass of: cervical cancer
IAO_0000115: A cervical cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components.
has alternative id: DOID:4431
has alternative id: DOID:6173
has db xref: NCI:C36097
has db xref: NCI:C40226
has db xref: NCI:C40228
has db xref: SNOMEDCT_US_2023_03_01:764951002
has db xref: UMLS_CUI:C1332917
has db xref: UMLS_CUI:C1516420
has db xref: UMLS_CUI:C1518168
has exact synonym: cervical malignant mixed Mullerian tumor
has exact synonym: cervical malignant mixed mesodermal mullerian tumor
has exact synonym: cervical mixed epithelial and mesenchymal neoplasm
has OBO namespace: disease_ontology
id: DOID:4112
in subset: NCIthesaurus

Axiom
annotated source: cervical carcinosarcoma
annotated property: IAO_0000115
annotated target: A cervical cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/18357808

uterine corpus adenosarcoma
type: Class
subclass of: uterine body mixed cancer
IAO_0000115: An adenosarcoma and malignant uterine body mixed neoplasm that derives_from the glands that line the uterus.
has db xref: NCI:C6336
has db xref: UMLS_CUI:C1336917
has exact synonym: uterine Corpus mullerian adenosarcoma
has OBO namespace: disease_ontology
has related synonym: adenosarcoma of uterine corpus
id: DOID:4113
in subset: NCIthesaurus

Axiom
annotated source: uterine corpus adenosarcoma
annotated property: IAO_0000115
annotated target: An adenosarcoma and malignant uterine body mixed neoplasm that derives_from the glands that line the uterus.
has db xref: url:http://www.wrongdiagnosis.com/a/adenosarcoma_of_the_uterus/intro.htm

uterine body mixed cancer
type: Class
subclass of: DOID 9460
IAO_0000115: A uterine corpus cancer that has_material_basis_in more than one type of cell.
has db xref: NCI:C6311
has db xref: UMLS_CUI:C1334628
has exact synonym: malignant mixed tumor of Corpus Uteri
has OBO namespace: disease_ontology
id: DOID:4114
in subset: NCIthesaurus

Axiom
annotated source: uterine body mixed cancer
annotated property: IAO_0000115
annotated target: A uterine corpus cancer that has_material_basis_in more than one type of cell.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Uterine_cancer

ovarian mesodermal adenosarcoma
type: Class
subclass of: DOID 6170
IAO_0000115: An ovarian carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium.
has db xref: NCI:C7317
has db xref: UMLS_CUI:C1335169
has exact synonym: Ovarian mullerian Adenosarcoma
has OBO namespace: disease_ontology
id: DOID:4115
in subset: NCIthesaurus

Axiom
annotated source: ovarian mesodermal adenosarcoma
annotated property: IAO_0000115
annotated target: An ovarian carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/12360039

vaginal adenosarcoma
type: Class
subclass of: vaginal carcinosarcoma
IAO_0000115: A vaginal carcinosarcoma derives_from the glands that line the uterus.
has db xref: NCI:C40277
has db xref: UMLS_CUI:C1519914
has OBO namespace: disease_ontology
id: DOID:4117
in subset: NCIthesaurus

Axiom
annotated source: vaginal adenosarcoma
annotated property: IAO_0000115
annotated target: A vaginal carcinosarcoma derives_from the glands that line the uterus.
has db xref: url:http://www.wrongdiagnosis.com/medical/mullerian_adenosarcoma_of_the_uterus.htm

colon neuroendocrine neoplasm
type: Class
subclass of: colonic benign neoplasm
has db xref: NCI:C5697
has db xref: SNOMEDCT_US_2023_03_01:1162856006
has db xref: UMLS_CUI:C1333097
has exact synonym: Colonic neuroendocrine tumor
has OBO namespace: disease_ontology
id: DOID:4118
in subset: NCIthesaurus

intestinal neuroendocrine benign tumor
type: Class
subclass of: DOID 4610
has db xref: NCI:C5695
has db xref: UMLS_CUI:C1334231
has exact synonym: intestinal neuroendocrine benign tumour
has exact synonym: neuroendocrine tumor of Intestine
has exact synonym: neuroendocrine tumour of Intestine
has OBO namespace: disease_ontology
id: DOID:4119
in subset: NCIthesaurus

myxosarcoma
type: Class
subclass of: cancer
has db xref: ICDO:8840/3
has db xref: MESH:D009236
has db xref: NCI:C3255
has db xref: SNOMEDCT_US_2023_03_01:28351005
has db xref: UMLS_CUI:C0027155
has OBO namespace: disease_ontology
id: DOID:4136
in subset: DO cancer slim
in subset: NCIthesaurus

bile duct disease
type: Class
subclass of: hepatobiliary disease
IAO_0000115: A biliary tract disease located_in one or more bile ducts.
has db xref: MESH:D001649
has db xref: NCI:C96716
has db xref: SNOMEDCT_US_2023_03_01:118926004
has db xref: UMLS_CUI:C0005395
has exact synonym: bile duct disorder
has exact synonym: disorder of bile duct
has OBO namespace: disease_ontology
id: DOID:4138
in subset: NCIthesaurus

Axiom
annotated source: bile duct disease
annotated property: IAO_0000115
annotated target: A biliary tract disease located_in one or more bile ducts.
has db xref: url:https://medlineplus.gov/bileductdiseases.html
has db xref: url:https://www.health.harvard.edu/a_to_z/bile-duct-diseases-a-to-z
has db xref: url:https://www.nyp.org/cadc/liver-diseases-and-transplantation/bile-duct-disorders

intraorbital meningioma
type: Class
subclass of: orbital cancer
IAO_0000115: A meningioma by site and orbital neoplasm that is located_in the area around the eye sockets of the skull and results_in pressure in the eyes, giving a bulging appearance.
has db xref: MESH:D008579
has db xref: NCI:C6778
has db xref: UMLS_CUI:C1334261
has OBO namespace: disease_ontology
id: DOID:4141
in subset: NCIthesaurus

Axiom
annotated source: intraorbital meningioma
annotated property: IAO_0000115
annotated target: A meningioma by site and orbital neoplasm that is located_in the area around the eye sockets of the skull and results_in pressure in the eyes, giving a bulging appearance.
type: ECO_0007637
has db xref: url:http://www.mayfieldclinic.com/pe-meni.htm

orbital cancer
type: Class
subclass of: bone cancer
IAO_0000115: A bone cancer that is located_in the area behind the eye and derives_from the orbit or secondarily derives_from an adjacent source (eyelid, paranasal sinus, or intracranial compartment). It results_in the eye pushing forward causing a bulging of the eye called proptosis.
has alternative id: DOID:9984
has db xref: ICD10CM:C69.6
has db xref: ICD9CM:190.1
has db xref: MESH:D009918
has db xref: NCI:C3290
has db xref: NCI:C3562
has db xref: SNOMEDCT_US_2023_03_01:127003006
has db xref: SNOMEDCT_US_2023_03_01:363462005
has db xref: UMLS_CUI:C0029185
has db xref: UMLS_CUI:C0153626
has exact synonym: malignant neoplasm of orbit
has exact synonym: neoplasm of orbit proper
has exact synonym: orbit cancer
has exact synonym: orbital tumor
has OBO namespace: disease_ontology
id: DOID:4143
in subset: NCIthesaurus

Axiom
annotated source: orbital cancer
annotated property: IAO_0000115
annotated target: A bone cancer that is located_in the area behind the eye and derives_from the orbit or secondarily derives_from an adjacent source (eyelid, paranasal sinus, or intracranial compartment). It results_in the eye pushing forward causing a bulging of the eye called proptosis.
type: ECO_0007646
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK13668/

gastrointestinal adenoma
type: Class
subclass of: organ system benign neoplasm
has db xref: NCI:C36207
has db xref: UMLS_CUI:C0948101
has exact synonym: GI adenoma
has OBO namespace: disease_ontology
id: DOID:4147
in subset: NCIthesaurus

gastrointestinal neuroendocrine benign tumor
type: Class
subclass of: organ system benign neoplasm
has db xref: NCI:C27721
has db xref: UMLS_CUI:C1333799
has OBO namespace: disease_ontology
id: DOID:4148
in subset: NCIthesaurus

skull base chordoma
type: Class
subclass of: chordoma
IAO_0000115: A chordoma that is located_in the skull base.
has db xref: NCI:C5453
has db xref: UMLS_CUI:C1335975
has exact synonym: Chordoma of the Skull Base
has OBO namespace: disease_ontology
id: DOID:4151
in subset: NCIthesaurus

Axiom
annotated source: skull base chordoma
annotated property: IAO_0000115
annotated target: A chordoma that is located_in the skull base.
has db xref: url:https://www.urmc.rochester.edu/encyclopedia/content.aspx?ContentTypeID=134&ContentID=85

chondroid chordoma
type: Class
subclass of: chordoma
IAO_0000115: A chordoma that histologically derives_from chordoma, derives_from chondroma, and derives_from chondrosarcoma.
has db xref: ICDO:9371/3
has db xref: NCI:C6902
has db xref: SNOMEDCT_US_2023_03_01:128784007
has db xref: UMLS_CUI:C1266173
has OBO namespace: disease_ontology
id: DOID:4152
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: chondroid chordoma
annotated property: IAO_0000115
annotated target: A chordoma that histologically derives_from chordoma, derives_from chondroma, and derives_from chondrosarcoma.
has db xref: url:http://www.ajnr.org/ajnr-case-collections-diagnosis/chondroid-chordoma
has db xref: url:https://my.clevelandclinic.org/health/diseases/17916-chordoma
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6263615/

spinal chordoma
type: Class
subclass of: chordoma
IAO_0000115: A chordoma that derives_from the spine.
has db xref: NCI:C5156
has exact synonym: Chordoma of Spine
has OBO namespace: disease_ontology
id: DOID:4153
in subset: NCIthesaurus

Axiom
annotated source: spinal chordoma
annotated property: IAO_0000115
annotated target: A chordoma that derives_from the spine.
type: ECO_0007637
has db xref: url:http://www.hopkinsmedicine.org/neurology_neurosurgery/conditions_main/chordoma.html

dentinogenesis imperfecta
type: Class
subclass of: mouth disease
IAO_0000115: A tooth disease characterized by discolored, opalescent teeth that has_material_basis_in mutation in the DSPP gene on chromosome 4q22.
has db xref: GARD:6258
has db xref: ICD10CM:K00.5
has db xref: MESH:D003811
has db xref: MIM:125490
has db xref: MIM:125500
has db xref: NCI:C84667
has db xref: ORDO:49042
has db xref: SNOMEDCT_US_2023_03_01:367461002
has db xref: UMLS_CUI:C0011436
has OBO namespace: disease_ontology
id: DOID:4154
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: dentinogenesis imperfecta
annotated property: IAO_0000115
annotated target: A tooth disease characterized by discolored, opalescent teeth that has_material_basis_in mutation in the DSPP gene on chromosome 4q22.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/19021896/

secondary syphilis
type: Class
subclass of: bacterial infectious disease
IAO_0000115: A syphilis that is characterized as the second stage of syphilis which appears from 2 to 6 months after primary infection, and is marked by lesions especially in the skin but also in organs and tissues, and that lasts from 3 to 12 weeks.
has alternative id: DOID:12122
has db xref: ICD9CM:091.9
has db xref: MESH:C536773
has db xref: NCI:C128413
has db xref: SNOMEDCT_US_2023_03_01:154382002
has db xref: UMLS_CUI:C0149985
has exact synonym: secondary syphilis of viscera or bone
has OBO namespace: disease_ontology
id: DOID:4157
in subset: DO infectious disease slim
in subset: NCIthesaurus
in subset: gram-negative bacterial infectious disease
in subset: sexually transmitted infectious disease

Axiom
annotated source: secondary syphilis
annotated property: IAO_0000115
annotated target: A syphilis that is characterized as the second stage of syphilis which appears from 2 to 6 months after primary infection, and is marked by lesions especially in the skin but also in organs and tissues, and that lasts from 3 to 12 weeks.
type: ECO_0007643
has db xref: url:https://www.merriam-webster.com/dictionary/secondary%20syphilis#medicalDictionary

skin cancer
type: Class
subclass of: cancer
IAO_0000115: An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells.
has db xref: GARD:10421
has db xref: MESH:D012878
has db xref: NCI:C2920
has db xref: SNOMEDCT_US_2023_03_01:94047004
has db xref: UMLS_CUI:C0007114
has exact synonym: CA - skin cancer
has exact synonym: malignant neoplasm of skin
has exact synonym: melanoma and Non-melanoma skin cancer
has OBO namespace: disease_ontology
has related synonym: cancer of skin
id: DOID:4159
in subset: DO CFDE slim
in subset: DO rare slim
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim

Axiom
annotated source: skin cancer
annotated property: IAO_0000115
annotated target: An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells.
has db xref: url:https://medlineplus.gov/skincancer.html
has db xref: url:https://www.genome.gov/Genetic-Disorders/Skin-Cancer

differentiating neuroblastoma
type: Class
subclass of: DOID 769
has db xref: NCI:C42048
has db xref: UMLS_CUI:C1511934
has OBO namespace: disease_ontology
id: DOID:4160
in subset: NCIthesaurus

ganglioneuroblastoma
type: Class
subclass of: DOID 769
has db xref: ICDO:9490/3
has db xref: MESH:D018305
has db xref: NCI:C3790
has db xref: SNOMEDCT_US_2023_03_01:116381000119105
has db xref: UMLS_CUI:C0206718
has OBO namespace: disease_ontology
id: DOID:4163
in subset: DO cancer slim
in subset: NCIthesaurus

cerebral neuroblastoma
type: Class
subclass of: brain cancer
IAO_0000115: A brain cancer that is characterized by small, round and blue cells with rosette patterns on histology, that has_material_basis_in abnormally proliferating cells and derives_from precursor cells called blast cells.
has db xref: NCI:C4826
has db xref: SNOMEDCT_US_2023_03_01:281560004
has db xref: UMLS_CUI:C0559458
has exact synonym: neuroblastoma of Cerebrum
has exact synonym: neuroblastoma of brain
has exact synonym: neuroblastoma of the cerebral hemisphere
has OBO namespace: disease_ontology
id: DOID:4164
in subset: NCIthesaurus

Axiom
annotated source: cerebral neuroblastoma
annotated property: IAO_0000115
annotated target: A brain cancer that is characterized by small, round and blue cells with rosette patterns on histology, that has_material_basis_in abnormally proliferating cells and derives_from precursor cells called blast cells.
type: ECO_0007638
type: ECO_0007645
has db xref: url:https://en.wikipedia.org/wiki/Neuroblastoma
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/6886755

Rh isoimmunization
type: Class
subclass of: DOID 74
has db xref: MESH:D012203
has db xref: NCI:C113150
has db xref: SNOMEDCT_US_2023_03_01:199580004
has db xref: UMLS_CUI:C0035404
has exact synonym: Rh incompatibility affecting management of mother
has OBO namespace: disease_ontology
id: DOID:4175
in subset: NCIthesaurus

systemic scleroderma
type: Class
subclass of: scleroderma
IAO_0000115: A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.
has db xref: EFO:0000717
has db xref: GARD:9748
has db xref: ICD10CM:M34.0
has db xref: ICD9CM:710.1
has db xref: MESH:D012595
has db xref: MIM:181750
has db xref: NCI:C72070
has db xref: SNOMEDCT_US_2023_03_01:89155008
has db xref: UMLS_CUI:C0036421
has exact synonym: Scleroderma
has exact synonym: Scleroderma syndrome
has exact synonym: progressive systemic sclerosis
has exact synonym: systemic sclerosis
has OBO namespace: disease_ontology
id: DOID:418
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: systemic scleroderma
annotated property: IAO_0000115
annotated target: A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.
type: ECO_0007637
has db xref: url:https://ghr.nlm.nih.gov/condition/systemic-scleroderma
comment: sn:IEDB

pseudopseudohypoparathyroidism
type: Class
subclass of: pseudohypoparathyroidism
IAO_0000115: A pseudohypoparathyroidism characterized by a lack of resistance to parathyroid hormone or other hormones along with the constellation of clinical features referred to as Albright hereditary osteodystrophy and that has_material_basis_in a mutation resulting in loss of function of the Gs-alpha isoform of the GNAS gene on the paternal allele. This results in expression of the Gs-alpha protein only from the maternal allele.
has db xref: GARD:7860
has db xref: MESH:D011556
has db xref: MIM:612463
has db xref: NCI:C129722
has db xref: SNOMEDCT_US_2023_03_01:190867002
has db xref: UMLS_CUI:C0033835
has exact synonym: Normocalcemic pseudohypoparathyroidism
has exact synonym: PPHP
has OBO namespace: disease_ontology
id: DOID:4183
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: pseudopseudohypoparathyroidism
annotated property: IAO_0000115
annotated target: A pseudohypoparathyroidism characterized by a lack of resistance to parathyroid hormone or other hormones along with the constellation of clinical features referred to as Albright hereditary osteodystrophy and that has_material_basis_in a mutation resulting in loss of function of the Gs-alpha isoform of the GNAS gene on the paternal allele. This results in expression of the Gs-alpha protein only from the maternal allele.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/17161328/

Axiom
annotated source: pseudopseudohypoparathyroidism
annotated property: hasExactSynonym
annotated target: PPHP
has synonym type: OMO_0003012

pseudohypoparathyroidism
type: Class
subclass of: DOID 655
IAO_0000115: A metal metabolism disorder that is characterized by end-organ resistance to parathyroid hormone and/or a constellation of symptoms collectively termed Albright’s hereditary osteodystrophy, which include shortening and widening of long bones located_in the hand or located_in the foot along with short stature, obesity, and rounded face.
has db xref: GARD:10758
has db xref: ICD10CM:E20.1
has db xref: MESH:D011547
has db xref: NCI:C99027
has db xref: SNOMEDCT_US_2023_03_01:190867002
has db xref: UMLS_CUI:C0033806
has exact synonym: PHP
has OBO namespace: disease_ontology
id: DOID:4184
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: pseudohypoparathyroidism
annotated property: IAO_0000115
annotated target: A metal metabolism disorder that is characterized by end-organ resistance to parathyroid hormone and/or a constellation of symptoms collectively termed Albright’s hereditary osteodystrophy, which include shortening and widening of long bones located_in the hand or located_in the foot along with short stature, obesity, and rounded face.
type: ECO_0007645
type: ECO_0007646
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/27401862/
has db xref: url:https://www.chop.edu/conditions-diseases/pseudohypoparathyroidism-php
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK279165/
has db xref: url:https://www.ncbi.nlm.nih.gov/sites/books/NBK559141/

Axiom
annotated source: pseudohypoparathyroidism
annotated property: hasExactSynonym
annotated target: PHP
has synonym type: OMO_0003012

echolalia
type: Class
subclass of: DOID 92
IAO_0000115: A speech disorder that involves the automatic repetition of vocalizations made by another person.
has db xref: MESH:D004454
has db xref: NCI:C97166
has db xref: SNOMEDCT_US_2023_03_01:64712007
has db xref: UMLS_CUI:C0013528
has OBO namespace: disease_ontology
id: DOID:4188
in subset: NCIthesaurus

Axiom
annotated source: echolalia
annotated property: IAO_0000115
annotated target: A speech disorder that involves the automatic repetition of vocalizations made by another person.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Echolalia

scleroderma
type: Class
subclass of: musculoskeletal system disease
IAO_0000115: A rheumatic disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs.
has db xref: MESH:D012594
has db xref: NCI:C26746
has db xref: SNOMEDCT_US_2023_03_01:201440007
has db xref: UMLS_CUI:C0011644
has exact synonym: dermatosclerosis
has OBO namespace: disease_ontology
id: DOID:419
in subset: NCIthesaurus

Axiom
annotated source: scleroderma
annotated property: IAO_0000115
annotated target: A rheumatic disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs.
type: ECO_0007637
has db xref: url:http://www.niams.nih.gov/Health_Info/Scleroderma/default.asp
has db xref: url:https://scleroderma.org/

glucose metabolism disease
type: Class
subclass of: carbohydrate metabolic disorder
IAO_0000115: A carbohydrate metabolic disorder that is characterized by blood glucose levels which cannot be maintained within the normal range.
has db xref: MESH:D044882
has db xref: NCI:C53655
has db xref: SNOMEDCT_US_2023_03_01:126877002
has db xref: UMLS_CUI:C1257958
has exact synonym: disorder of glucose metabolism
has OBO namespace: disease_ontology
id: DOID:4194
in subset: NCIthesaurus

Axiom
annotated source: glucose metabolism disease
annotated property: IAO_0000115
annotated target: A carbohydrate metabolic disorder that is characterized by blood glucose levels which cannot be maintained within the normal range.
type: ECO_0007645
type: ECO_0007646
has db xref: url:https://empendium.com/mcmtextbook/chapter/B31.II.24.11.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/39067965/

hyperglycemia
type: Class
subclass of: glucose metabolism disease
has db xref: ICD10CM:R73.9
has db xref: MESH:D006943
has db xref: NCI:C26797
has db xref: SNOMEDCT_US_2023_03_01:144187006
has db xref: UMLS_CUI:C0020456
has OBO namespace: disease_ontology
id: DOID:4195
in subset: NCIthesaurus

femoral neuropathy
type: Class
subclass of: DOID 870
IAO_0000115: A mononeuropathy that is characterized by a loss of movement or sensation in parts of the legs due to damage to the femoral nerve.
has db xref: ICD10CM:G57.2
has db xref: MESH:D020428
has db xref: NCI:C27595
has db xref: SNOMEDCT_US_2023_03_01:25690000
has db xref: UMLS_CUI:C0751931
has exact synonym: Femoral nerve lesions
has exact synonym: femoral nerve dysfunction
has OBO namespace: disease_ontology
id: DOID:4196
in subset: NCIthesaurus

Axiom
annotated source: femoral neuropathy
annotated property: IAO_0000115
annotated target: A mononeuropathy that is characterized by a loss of movement or sensation in parts of the legs due to damage to the femoral nerve.
type: ECO_0007640
has db xref: url:https://medlineplus.gov/ency/article/000687.htm

hypertrichosis
type: Class
subclass of: hair disease
IAO_0000115: A hair disease characterized by hair growth that is abnormal in quantity or location.
has db xref: ICD10CM:L68
has db xref: MESH:D006983
has db xref: NCI:C79597
has db xref: ORDO:79365
has db xref: SNOMEDCT_US_2023_03_01:201164001
has db xref: UMLS_CUI:C0020555
has OBO namespace: disease_ontology
id: DOID:420
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: hypertrichosis
annotated property: IAO_0000115
annotated target: A hair disease characterized by hair growth that is abnormal in quantity or location.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/18328202

peroneal neuropathy
type: Class
subclass of: DOID 870
has db xref: MESH:D020427
has db xref: NCI:C27596
has db xref: UMLS_CUI:C0747533
has OBO namespace: disease_ontology
id: DOID:4201
in subset: NCIthesaurus

brain stem glioma
type: Class
subclass of: brain stem cancer
IAO_0000115: A brain stem cancer that is characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells, derives_from glial cells.
has db xref: NCI:C8501
has db xref: SNOMEDCT_US_2023_03_01:444545003
has db xref: UMLS_CUI:C0677865
has exact synonym: Brainstem Neuroglial tumor
has OBO namespace: disease_ontology
id: DOID:4202
in subset: NCIthesaurus

Axiom
annotated source: brain stem glioma
annotated property: IAO_0000115
annotated target: A brain stem cancer that is characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells, derives_from glial cells.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Brainstem_glioma

brain stem cancer
type: Class
subclass of: DOID 4706
has alternative id: DOID:13974
has alternative id: DOID:4204
has alternative id: DOID:4208
has db xref: GARD:8244
has db xref: ICD10CM:C71.7
has db xref: ICD9CM:191.7
has db xref: MESH:D020295
has db xref: NCI:C3570
has db xref: NCI:C4869
has db xref: NCI:C4975
has db xref: NCI:C5967
has db xref: SNOMEDCT_US_2023_03_01:126961004
has db xref: SNOMEDCT_US_2023_03_01:93726004
has db xref: UMLS_CUI:C0153641
has db xref: UMLS_CUI:C0677866
has db xref: UMLS_CUI:C0751886
has db xref: UMLS_CUI:C1332192
has exact synonym: malignant neoplasm of brain stem
has exact synonym: malignant neoplasm of brainstem
has exact synonym: neoplasm of adult brain stem
has exact synonym: neoplasm of brain stem
has exact synonym: primary brain Stem tumor
has exact synonym: primary brain stem neoplasm
has OBO namespace: disease_ontology
id: DOID:4203
in subset: DO rare slim
in subset: NCIthesaurus

cerebellum cancer
type: Class
subclass of: DOID 4706
has alternative id: DOID:12786
has db xref: ICD10CM:C71.6
has db xref: ICD9CM:191.6
has db xref: MESH:D002528
has db xref: NCI:C2935
has db xref: NCI:C3569
has db xref: SNOMEDCT_US_2023_03_01:126960003
has db xref: SNOMEDCT_US_2023_03_01:449420002
has db xref: UMLS_CUI:C0007762
has db xref: UMLS_CUI:C0153640
has exact synonym: cerebellar cancer
has exact synonym: malignant tumor of Cerebellum
has OBO namespace: disease_ontology
id: DOID:4205
in subset: NCIthesaurus

childhood brain stem neoplasm
type: Class
subclass of: brain stem cancer
IAO_0000115: A brain stem cancer characterized by mass lesion of the brainstem in childhood, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells.
has db xref: NCI:C5969
has db xref: UMLS_CUI:C1332951
has exact synonym: pediatric tumor of Brainstem
has OBO namespace: disease_ontology
id: DOID:4206
in subset: DO cancer slim
in subset: DO childhood cancer slim
in subset: NCIthesaurus

Axiom
annotated source: childhood brain stem neoplasm
annotated property: IAO_0000115
annotated target: A brain stem cancer characterized by mass lesion of the brainstem in childhood, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells.
type: ECO_0007636
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C5969

childhood infratentorial neoplasm
type: Class
subclass of: brain stem cancer
IAO_0000115: A brain stem cancer in the infratentorial region of the brain in childhood, characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells.
has db xref: NCI:C5802
has db xref: UMLS_CUI:C1332973
has exact synonym: pediatric Infratentorial tumor
has OBO namespace: disease_ontology
id: DOID:4207
in subset: DO cancer slim
in subset: DO childhood cancer slim
in subset: NCIthesaurus

Axiom
annotated source: childhood infratentorial neoplasm
annotated property: IAO_0000115
annotated target: A brain stem cancer in the infratentorial region of the brain in childhood, characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells.
type: ECO_0007636
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C5802

brainstem intraparenchymal clear cell meningioma
type: Class
subclass of: clear cell meningioma
has db xref: NCI:C5295
has db xref: UMLS_CUI:C1332612
has exact synonym: Intraparenchymal Clear cell meningioma of the Brainstem
has OBO namespace: disease_ontology
id: DOID:4209
in subset: NCIthesaurus

hair disease
type: Class
subclass of: disease
IAO_0000115: An integumentary system disease that is located_in hair.
has db xref: MESH:D006201
has db xref: NCI:C34656
has db xref: SNOMEDCT_US_2023_03_01:267862002
has db xref: UMLS_CUI:C0018500
has OBO namespace: disease_ontology
id: DOID:421
in subset: NCIthesaurus

Axiom
annotated source: hair disease
annotated property: IAO_0000115
annotated target: An integumentary system disease that is located_in hair.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Hair_disease

clear cell meningioma
type: Class
subclass of: meningioma
has db xref: ICDO:9538/1
has db xref: MESH:D008579
has db xref: NCI:C4722
has db xref: SNOMEDCT_US_2023_03_01:134213009
has db xref: UMLS_CUI:C0431121
has OBO namespace: disease_ontology
id: DOID:4210
in subset: DO cancer slim
in subset: NCIthesaurus

posterior fossa meningioma
type: Class
subclass of: meningioma
IAO_0000115: A meningioma that affects the posterior cranial fossa.
has db xref: MESH:D008579
has db xref: NCI:C6775
has db xref: UMLS_CUI:C1565950
has exact synonym: meningioma of the Posterior Cranial Fossa
has exact synonym: posterior cranial fossa meningioma
has OBO namespace: disease_ontology
id: DOID:4211
in subset: NCIthesaurus

Axiom
annotated source: posterior fossa meningioma
annotated property: IAO_0000115
annotated target: A meningioma that affects the posterior cranial fossa.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/33814376/

malignant ovarian Brenner tumor
type: Class
subclass of: malignant ovarian surface epithelial-stromal neoplasm
IAO_0000115: A malignant ovarian surface epithelial-stromal neoplasm that has_material_basis_in the surface epithelium of the ovary.
has db xref: MESH:D001948
has db xref: NCI:C4270
has db xref: SNOMEDCT_US_2023_03_01:42194009
has db xref: UMLS_CUI:C0334495
has OBO namespace: disease_ontology
id: DOID:4217
in subset: NCIthesaurus

Axiom
annotated source: malignant ovarian Brenner tumor
annotated property: IAO_0000115
annotated target: A malignant ovarian surface epithelial-stromal neoplasm that has_material_basis_in the surface epithelium of the ovary.
type: ECO_0007636
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C40026

congenital structural myopathy
type: Class
subclass of: myopathy
IAO_0000115: A myopathy that is characterized by hypotonia, muscle weakness, and delayed development of motor skills.
has db xref: MESH:D020914
has db xref: NCI:C84648
has db xref: UMLS_CUI:C0752282
has OBO namespace: disease_ontology
id: DOID:422
in subset: DO FlyBase slim
in subset: NCIthesaurus

Axiom
annotated source: congenital structural myopathy
annotated property: IAO_0000115
annotated target: A myopathy that is characterized by hypotonia, muscle weakness, and delayed development of motor skills.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/23897157/

endometrial stromal sarcoma
type: Class
subclass of: endometrial cancer
IAO_0000115: An endometrial stromal tumor that has_material_basis_in connective tissue.
has db xref: GARD:6339
has db xref: ICDO:8930/3
has db xref: MESH:D018203
has db xref: NCI:C8973
has db xref: SNOMEDCT_US_2023_03_01:1178986006
has db xref: UMLS_CUI:C0206630
has exact synonym: ESS
has exact synonym: Undifferentiated endometrial sarcoma
has exact synonym: endometrial stromal sarcoma, high grade
has OBO namespace: disease_ontology
id: DOID:4226
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: endometrial stromal sarcoma
annotated property: IAO_0000115
annotated target: An endometrial stromal tumor that has_material_basis_in connective tissue.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Endometrial_stromal_sarcoma

Axiom
annotated source: endometrial stromal sarcoma
annotated property: hasExactSynonym
annotated target: ESS
has synonym type: OMO_0003012

uterine corpus endometrial stromal sarcoma
type: Class
subclass of: DOID 5165
IAO_0000115: A uterine corpus sarcoma that has_material_basis_in the connective tissue of the uterine lining.
has alternative id: DOID:1374
has db xref: NCI:C40219
has db xref: UMLS_CUI:C1519849
has exact synonym: uterine corpus endometrial stromal tumor
has OBO namespace: disease_ontology
id: DOID:4227
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: uterine corpus endometrial stromal sarcoma
annotated property: IAO_0000115
annotated target: A uterine corpus sarcoma that has_material_basis_in the connective tissue of the uterine lining.
type: ECO_0007645
has db xref: url:https://www.cancer.org/cancer/uterine-sarcoma/about/what-is-uterine-sarcoma.html
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/21652246

myopathy
type: Class
subclass of: musculoskeletal system disease
IAO_0000115: A muscular disease in which the muscle fibers do not function resulting in muscular weakness.
has db xref: ICD10CM:G72.9
has db xref: ICD9CM:359.9
has db xref: MESH:D009135
has db xref: NCI:C101216
has db xref: SNOMEDCT_US_2023_03_01:155094005
has db xref: UMLS_CUI:C0026848
has OBO namespace: disease_ontology
id: DOID:423
in subset: DO FlyBase slim
in subset: NCIthesaurus

Axiom
annotated source: myopathy
annotated property: IAO_0000115
annotated target: A muscular disease in which the muscle fibers do not function resulting in muscular weakness.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Myopathy

smooth muscle cancer
type: Class
subclass of: muscle cancer
has db xref: NCI:C6511
has db xref: UMLS_CUI:C1334620
has exact synonym: malignant tumor of Smooth Muscle
has OBO namespace: disease_ontology
id: DOID:4230
in subset: NCIthesaurus

histiocytoma
type: Class
subclass of: connective tissue benign neoplasm
has db xref: ICDO:8831/0
has db xref: MESH:D051642
has db xref: NCI:C35765
has db xref: SNOMEDCT_US_2023_03_01:154614002
has db xref: UMLS_CUI:C1509147
has OBO namespace: disease_ontology
id: DOID:4231
in subset: DO cancer slim
in subset: NCIthesaurus

extraosseous Ewing sarcoma
type: Class
subclass of: Ewing sarcoma
IAO_0000115: A Ewing sarcoma that is morphologically indistinguishable from skeletal Ewing sarcoma but is located in extraosseous locations.
has db xref: NCI:C27293
has db xref: ORDO:370334
has db xref: UMLS_CUI:C1333514
has exact synonym: extraosseous Ewing's sarcoma
has exact synonym: extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor
has exact synonym: extraskeletal Ewing sarcom
has OBO namespace: disease_ontology
id: DOID:4232
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: extraosseous Ewing sarcoma
annotated property: IAO_0000115
annotated target: A Ewing sarcoma that is morphologically indistinguishable from skeletal Ewing sarcoma but is located in extraosseous locations.
type: ECO_0007636
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27293

clear cell sarcoma
type: Class
subclass of: cancer
IAO_0000115: A sarcoma that is characterized by solid nests and fascicles of tumor cells with clear cytoplasm and prominent nucleoli. It presents as a slow growing mass that especially affects tendons and aponeuroses and it is deeply situated.
has alternative id: DOID:4881
has db xref: ICDO:9044/3
has db xref: MESH:D018227
has db xref: NCI:C27370
has db xref: NCI:C3745
has db xref: SNOMEDCT_US_2023_03_01:12622007
has db xref: UMLS_CUI:C0206651
has db xref: UMLS_CUI:C1332198
has exact synonym: Clear cell sarcoma of soft Parts
has exact synonym: adult soft part clear cell sarcoma
has exact synonym: malignant melanoma of soft tissues
has exact synonym: melanoma, malignant, of soft parts
has OBO namespace: disease_ontology
has related synonym: malignant melanoma of soft parts
id: DOID:4233
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: clear cell sarcoma
annotated property: IAO_0000115
annotated target: A sarcoma that is characterized by solid nests and fascicles of tumor cells with clear cytoplasm and prominent nucleoli. It presents as a slow growing mass that especially affects tendons and aponeuroses and it is deeply situated.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Clear-cell_sarcoma

spindle cell sarcoma
type: Class
subclass of: cancer
IAO_0000115: A sarcoma that results_in cells that are spindle-shaped. They are usually resistant to radiation therapy.
has db xref: ICDO:8801/3
has db xref: MESH:D012509
has db xref: NCI:C27005
has db xref: SNOMEDCT_US_2023_03_01:9801004
has db xref: UMLS_CUI:C0205945
has OBO namespace: disease_ontology
id: DOID:4235
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: spindle cell sarcoma
annotated property: IAO_0000115
annotated target: A sarcoma that results_in cells that are spindle-shaped. They are usually resistant to radiation therapy.
type: ECO_0007641
has db xref: url:http://medical-dictionary.thefreedictionary.com/spindle+cell+sarcoma

carcinosarcoma
type: Class
subclass of: mixed cell type cancer
IAO_0000115: A mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components.
has alternative id: DOID:1971
has alternative id: DOID:2610
has alternative id: DOID:4234
has db xref: ICDO:8980/3
has db xref: MESH:D002296
has db xref: MESH:D018199
has db xref: MESH:D018200
has db xref: NCI:C34448
has db xref: NCI:C3730
has db xref: NCI:C8975
has db xref: SNOMEDCT_US_2023_03_01:112684005
has db xref: SNOMEDCT_US_2023_03_01:63264007
has db xref: SNOMEDCT_US_2023_03_01:84427001
has db xref: UMLS_CUI:C0007140
has db xref: UMLS_CUI:C0206627
has db xref: UMLS_CUI:C1334603
has exact synonym: MMMT
has exact synonym: malignant mixed Mullerian tumor
has exact synonym: malignant mixed mesodermal (mullerian) tumor
has exact synonym: mesodermal mixed tumor
has exact synonym: mixed Mesodermal (mullerian) tumor
has exact synonym: mullerian mixed tumor
has OBO namespace: disease_ontology
id: DOID:4236
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: carcinosarcoma
annotated property: IAO_0000115
annotated target: A mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007641
has db xref: url:http://en.wikipedia.org/wiki/Mixed_M%C3%BCllerian_tumor
has db xref: url:http://www.cancer.gov/dictionary/?CdrID=44003

Axiom
annotated source: carcinosarcoma
annotated property: hasExactSynonym
annotated target: MMMT
has synonym type: OMO_0003012

alveolar soft part sarcoma
type: Class
subclass of: skeletal muscle cancer
IAO_0000115: A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults.
has alternative id: DOID:5315
has alternative id: DOID:5318
has db xref: GARD:5654
has db xref: ICDO:9581/3
has db xref: MESH:D018234
has db xref: MIM:606243
has db xref: NCI:C3750
has db xref: NCI:C7943
has db xref: NCI:C8092
has db xref: ORDO:163699
has db xref: SNOMEDCT_US_2023_03_01:88195001
has db xref: UMLS_CUI:C0206657
has db xref: UMLS_CUI:C0279544
has db xref: UMLS_CUI:C0279985
has OBO namespace: disease_ontology
id: DOID:4239
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: alveolar soft part sarcoma
annotated property: IAO_0000115
annotated target: A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Alveolar_soft_part_sarcoma

kidney sarcoma
type: Class
subclass of: kidney cancer
IAO_0000115: A kidney cancer that is located in the kidney's connective tissue.
has db xref: NCI:C4525
has db xref: SNOMEDCT_US_2023_03_01:254918001
has db xref: UMLS_CUI:C0346251
has exact synonym: renal sarcoma
has exact synonym: sarcoma of kidney
has OBO namespace: disease_ontology
id: DOID:4242
in subset: NCIthesaurus

Axiom
annotated source: kidney sarcoma
annotated property: IAO_0000115
annotated target: A kidney cancer that is located in the kidney's connective tissue.
has db xref: url:https://www.cancer.org/cancer/types/kidney-cancer/about/what-is-kidney-cancer.html

coronary stenosis
type: Class
subclass of: coronary artery disease
has db xref: MESH:D023921
has db xref: NCI:C80427
has db xref: SNOMEDCT_US_2023_03_01:233970002
has db xref: UMLS_CUI:C0242231
has exact synonym: Coronary artery stenosis
has OBO namespace: disease_ontology
id: DOID:4248
in subset: NCIthesaurus

Gerstmann-Straussler-Scheinker syndrome
type: Class
subclass of: DOID 649
IAO_0000115: A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain.
has db xref: GARD:7690
has db xref: ICD10CM:A81.82
has db xref: ICD9CM:046.71
has db xref: MESH:D016098
has db xref: MIM:137440
has db xref: NCI:C84727
has db xref: SNOMEDCT_US_2023_03_01:67155006
has db xref: UMLS_CUI:C0017495
has exact synonym: Gerstmann-Straussler-Scheinker disease
has exact synonym: PRION DEMENTIA
has OBO namespace: disease_ontology
id: DOID:4249
in subset: DO FlyBase slim
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Gerstmann-Straussler-Scheinker syndrome
annotated property: IAO_0000115
annotated target: A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Gerstmann-Str%C3%A4ussler-Scheinker_syndrome
has db xref: url:http://en.wikipedia.org/wiki/Gerstmann-straussler-scheinker_disease
has db xref: url:http://www.cdc.gov/ncidod/dvrd/prions/

conjunctival disease
type: Class
subclass of: DOID 5614
IAO_0000115: An eye disease affecting the conjunctiva, which is the mucous membrane surrounding the eye and interior of the eyelids.
has db xref: ICD10CM:H11.9
has db xref: ICD9CM:372.9
has db xref: MESH:D003229
has db xref: NCI:C27605
has db xref: SNOMEDCT_US_2023_03_01:194583004
has db xref: UMLS_CUI:C0009759
has OBO namespace: disease_ontology
id: DOID:4251
in subset: NCIthesaurus

Axiom
annotated source: conjunctival disease
annotated property: IAO_0000115
annotated target: An eye disease affecting the conjunctiva, which is the mucous membrane surrounding the eye and interior of the eyelids.
type: ECO_0007636
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27605

Alexander disease
type: Class
subclass of: leukodystrophy
IAO_0000115: A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes.
has db xref: GARD:5774
has db xref: MESH:D038261
has db xref: MIM:203450
has db xref: NCI:C84545
has db xref: SNOMEDCT_US_2023_03_01:81854007
has db xref: UMLS_CUI:C0270726
has exact synonym: Alexander's disease
has OBO namespace: disease_ontology
id: DOID:4252
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Alexander disease
annotated property: IAO_0000115
annotated target: A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes.
type: ECO_0007636
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Alexander_disease
has db xref: url:http://www.ninds.nih.gov/disorders/alexander_disease/alexander_disease.htm
has db xref: url:http://www.omim.org/entry/203450
has db xref: url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/56/viewAbstract

melorheostosis
type: Class
subclass of: osteosclerosis
IAO_0000115: An osteosclerosis that has_material_basis_in a mutation of the LEMD3 gene which results_in a hyperdense bony cortex.
has db xref: GARD:9474
has db xref: MESH:D008557
has db xref: MIM:155950
has db xref: NCI:C84887
has db xref: SNOMEDCT_US_2023_03_01:240173003
has db xref: UMLS_CUI:C0025239
has OBO namespace: disease_ontology
id: DOID:4253
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: melorheostosis
annotated property: IAO_0000115
annotated target: An osteosclerosis that has_material_basis_in a mutation of the LEMD3 gene which results_in a hyperdense bony cortex.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Melorheostosis
has db xref: url:http://www.melorheostosis.com/

osteosclerosis
type: Class
subclass of: DOID 65
IAO_0000115: A bone remodeling disease that results_in abnormal elevated bone density or mass.
has db xref: ICD10CM:Q78.2
has db xref: MESH:D010026
has db xref: NCI:C41236
has db xref: SNOMEDCT_US_2023_03_01:49347007
has db xref: UMLS_CUI:C0029464
has OBO namespace: disease_ontology
id: DOID:4254
in subset: NCIthesaurus

Axiom
annotated source: osteosclerosis
annotated property: IAO_0000115
annotated target: A bone remodeling disease that results_in abnormal elevated bone density or mass.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Osteosclerosis

Caffey disease
type: Class
subclass of: DOID 65
IAO_0000115: A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability.
has db xref: GARD:1051
has db xref: ICD10CM:M89.8
has db xref: MESH:D006958
has db xref: MIM:114000
has db xref: NCI:C84645
has db xref: SNOMEDCT_US_2023_03_01:24752008
has db xref: UMLS_CUI:C0020497
has exact synonym: cortical congenital hyperostosis
has exact synonym: infantile cortical hyperostosis
has OBO namespace: disease_ontology
id: DOID:4257
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Caffey disease
annotated property: IAO_0000115
annotated target: A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Infantile_cortical_hyperostosis

Weissenbacher-Zweymuller syndrome
type: Class
subclass of: osteochondrodysplasia
IAO_0000115: An osteochondrodysplasia that results_in shortened long bones and distinct facial abnormalities.
has db xref: ICD10CM:Q87.0
has db xref: MESH:D010855
has db xref: MIM:261800
has db xref: NCI:C85010
has db xref: SNOMEDCT_US_2023_03_01:156908005
has db xref: UMLS_CUI:C0031900
has exact synonym: Piere-Robin syndrome
has exact synonym: Pierre Robin Malformation
has OBO namespace: disease_ontology
id: DOID:4258
in subset: NCIthesaurus

Axiom
annotated source: Weissenbacher-Zweymuller syndrome
annotated property: IAO_0000115
annotated target: An osteochondrodysplasia that results_in shortened long bones and distinct facial abnormalities.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Weissenbacher-Zweym%C3%BCller_syndrome
has db xref: url:http://ghr.nlm.nih.gov/condition/weissenbacher-zweymuller-syndrome

angiomyoma
type: Class
subclass of: vascular disease
IAO_0000115: A leiomyoma that is located_in the blood vessels.
has db xref: MESH:D018229
has db xref: NCI:C3747
has db xref: SNOMEDCT_US_2023_03_01:86959002
has db xref: UMLS_CUI:C0206653
has exact synonym: vascular leiomyoma
has OBO namespace: disease_ontology
id: DOID:4265
in subset: NCIthesaurus

Axiom
annotated source: angiomyoma
annotated property: IAO_0000115
annotated target: A leiomyoma that is located_in the blood vessels.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4202094/

intravascular angioleiomyoma
type: Class
subclass of: angiomyoma
has db xref: NCI:C5355
has db xref: UMLS_CUI:C1334267
has OBO namespace: disease_ontology
id: DOID:4266
in subset: NCIthesaurus

microsporidiosis
type: Class
subclass of: fungal infectious disease
IAO_0000115: An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in Microsporidia phylum members.
has db xref: GARD:3655
has db xref: ICD10CM:B60.8
has db xref: MESH:D016881
has db xref: NCI:C84891
has db xref: SNOMEDCT_US_2023_03_01:61842000
has db xref: UMLS_CUI:C0085407
has exact synonym: Infection by Microspora
has exact synonym: Infection by Microsporea
has exact synonym: Infection by Microsporida
has OBO namespace: disease_ontology
id: DOID:4271
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: microsporidiosis
annotated property: IAO_0000115
annotated target: An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in Microsporidia phylum members.
type: ECO_0007637
has db xref: url:http://www.dpd.cdc.gov/dpdx/HTML/Microsporidiosis.htm

penis basal cell carcinoma
type: Class
subclass of: penis carcinoma
IAO_0000115: A basal cell carcinoma that is located_in the penis.
has db xref: NCI:C39961
has db xref: UMLS_CUI:C1518949
has OBO namespace: disease_ontology
has related synonym: basal cell carcinoma of the penis
id: DOID:4277
in subset: NCIthesaurus

Axiom
annotated source: penis basal cell carcinoma
annotated property: IAO_0000115
annotated target: A basal cell carcinoma that is located_in the penis.
type: ECO_0007637
has db xref: url:https://www.cancer.org/cancer/penile-cancer/about/what-is-penile-cancer.html

scrotum basal cell carcinoma
type: Class
subclass of: scrotal carcinoma
has db xref: NCI:C6386
has db xref: UMLS_CUI:C1335934
has exact synonym: Basal cell carcinoma of scrotum
has OBO namespace: disease_ontology
has related synonym: basal cell carcinoma of the scrotum
id: DOID:4278
in subset: NCIthesaurus

nodular basal cell carcinoma
type: Class
subclass of: basal cell carcinoma
IAO_0000115: A basal cell carcinoma characterized by elevated, pearl shaped nodules with telengactisae on the surface and periphery.
has alternative id: DOID:4296
has db xref: NCI:C62282
has db xref: SNOMEDCT_US_2023_03_01:716274007
has db xref: UMLS_CUI:C1304300
has exact synonym: Basal cell carcinoma, nodular
has exact synonym: Circumscribed solid basal cell carcinoma
has exact synonym: skin nodulo-ulcerative basal cell carcinoma
has exact synonym: skin solid (nodular) Basal cell carcinoma
has OBO namespace: disease_ontology
id: DOID:4280
in subset: NCIthesaurus

Axiom
annotated source: nodular basal cell carcinoma
annotated property: IAO_0000115
annotated target: A basal cell carcinoma characterized by elevated, pearl shaped nodules with telengactisae on the surface and periphery.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3573444/

anal margin basal cell carcinoma
type: Class
subclass of: basal cell carcinoma
IAO_0000115: A basal cell carcinoma that is located_in the anal margin.
has db xref: ICD10CM:C44.510
has db xref: NCI:C7473
has db xref: UMLS_CUI:C1332269
has exact synonym: Basal cell carcinoma of Perianal skin
has OBO namespace: disease_ontology
has related synonym: basal cell carcinoma of anal margin
id: DOID:4283
in subset: NCIthesaurus

Axiom
annotated source: anal margin basal cell carcinoma
annotated property: IAO_0000115
annotated target: A basal cell carcinoma that is located_in the anal margin.
type: ECO_0007637
has db xref: url:https://www.cancer.org/cancer/anal-cancer/about/what-is-anal-cancer.html

anal margin carcinoma
type: Class
subclass of: DOID 4908
IAO_0000115: An anal carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anal margin (where the canal meets the outside skin at the anus).
has db xref: NCI:C7472
has db xref: SNOMEDCT_US_2023_03_01:255084004
has db xref: UMLS_CUI:C0349534
has exact synonym: Perianal skin carcinoma
has OBO namespace: disease_ontology
has related synonym: carcinoma of anal margin
id: DOID:4284
in subset: NCIthesaurus

Axiom
annotated source: anal margin carcinoma
annotated property: IAO_0000115
annotated target: An anal carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anal margin (where the canal meets the outside skin at the anus).
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/20436838/

skin nasal cell carcinoma with sebaceous differentiation
type: Class
subclass of: basal cell carcinoma
IAO_0000115: A basal cell carcinoma that is characterized by sebaceous differentiation and located in the skin.
has db xref: NCI:C4346
has exact synonym: sebaceous basal cell carcinoma
has exact synonym: skin basosebaceous basal cell carcinoma
has OBO namespace: disease_ontology
id: DOID:4286
in subset: NCIthesaurus

Axiom
annotated source: skin nasal cell carcinoma with sebaceous differentiation
annotated property: IAO_0000115
annotated target: A basal cell carcinoma that is characterized by sebaceous differentiation and located in the skin.
has db xref: url:https://journals.lww.com/prsgo/fulltext/2020/12000/basal_cell_carcinoma_with_sebaceous.50.aspx

external ear basal cell carcinoma
type: Class
subclass of: external ear carcinoma
has db xref: NCI:C6082
has db xref: UMLS_CUI:C1333491
has exact synonym: Basal cell carcinoma of the External ear
has OBO namespace: disease_ontology
has related synonym: basal cell carcinoma of external ear
id: DOID:4287
in subset: NCIthesaurus

external ear carcinoma
type: Class
subclass of: DOID 5665
IAO_0000115: An external ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
has db xref: NCI:C6081
has db xref: UMLS_CUI:C1333492
has exact synonym: carcinoma of the External ear
has OBO namespace: disease_ontology
has related synonym: carcinoma of external ear
id: DOID:4288
in subset: NCIthesaurus

Axiom
annotated source: external ear carcinoma
annotated property: IAO_0000115
annotated target: An external ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Carcinoma

gynatresia
type: Class
subclass of: reproductive system disease
IAO_0000115: A female reproductive system disease that is characterized by the occlusion of some part of the female genital tract, especially occlusion of the vagina.
has db xref: MESH:D006175
has db xref: NCI:C84743
has db xref: UMLS_CUI:C0018414
has OBO namespace: disease_ontology
id: DOID:429
in subset: NCIthesaurus

Axiom
annotated source: gynatresia
annotated property: IAO_0000115
annotated target: A female reproductive system disease that is characterized by the occlusion of some part of the female genital tract, especially occlusion of the vagina.
type: ECO_0007645
has db xref: url:https://fertilitypedia.org/edu/diagnoses/gynatresia
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/22717415

adamantinoid basal cell epithelioma
type: Class
subclass of: basal cell carcinoma
has db xref: NCI:C7585
has db xref: SNOMEDCT_US_2023_03_01:402524007
has db xref: UMLS_CUI:C1304295
has exact synonym: Basal cell carcinoma - adamantinoid
has exact synonym: Melanotic adamantinoma of skin
has exact synonym: skin adamantinoid basal cell epithelioma
has OBO namespace: disease_ontology
id: DOID:4290
in subset: NCIthesaurus

fibroepithelial basal cell carcinoma
type: Class
subclass of: basal cell carcinoma
has db xref: NCI:C4109
has db xref: SNOMEDCT_US_2023_03_01:254703005
has db xref: UMLS_CUI:C0346013
has exact synonym: Fibroepithelioma of Pinkus
has exact synonym: Fibroepithelioma of Pinkus type
has exact synonym: Pinkus tumor
has OBO namespace: disease_ontology
id: DOID:4291
in subset: NCIthesaurus

morpheaform basal cell carcinoma
type: Class
subclass of: basal cell carcinoma
has db xref: NCI:C27182
has db xref: SNOMEDCT_US_2023_03_01:403913006
has db xref: UMLS_CUI:C0555191
has exact synonym: Basal cell carcinoma, morphea
has exact synonym: Cicatricial basal-cell carcinoma
has exact synonym: Morphea-type (Sclerosing) Basal cell carcinoma
has OBO namespace: disease_ontology
id: DOID:4292
in subset: NCIthesaurus

clear cell basal cell carcinoma
type: Class
subclass of: basal cell carcinoma
has db xref: NCI:C27536
has db xref: UMLS_CUI:C1516599
has exact synonym: skin clear cell basal cell carcinoma
has OBO namespace: disease_ontology
id: DOID:4293
in subset: NCIthesaurus

adenoid basal cell carcinoma
type: Class
subclass of: basal cell carcinoma
IAO_0000115: A basal cell carcinoma that is characterized by the presence of thin strands of basaloid cells forming a reticulate pattern.
has db xref: NCI:C27535
has exact synonym: skin adenoid basal cell carcinoma
has OBO namespace: disease_ontology
id: DOID:4294
in subset: NCIthesaurus

Axiom
annotated source: adenoid basal cell carcinoma
annotated property: IAO_0000115
annotated target: A basal cell carcinoma that is characterized by the presence of thin strands of basaloid cells forming a reticulate pattern.
has db xref: url:https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC4840735/

follicular basal cell carcinoma
type: Class
subclass of: basal cell carcinoma
IAO_0000115: A basal cell carcinoma that is characterized by follicular differentiation.
has db xref: NCI:C27538
has exact synonym: Skin Follicular Basal Cell Carcinoma
has exact synonym: follicular (pilar) basal cell carcinoma
has OBO namespace: disease_ontology
id: DOID:4295
in subset: NCIthesaurus

Axiom
annotated source: follicular basal cell carcinoma
annotated property: IAO_0000115
annotated target: A basal cell carcinoma that is characterized by follicular differentiation.
has db xref: url:https://link.springer.com/chapter/10.1007/978-3-319-45704-8_57

scimitar syndrome
type: Class
subclass of: congenital heart disease
IAO_0000115: A congenital heart disease that is characterized by partial or entire anomalous curved venous drainage of the right lung to the inferior vena cava, association with variable right lung and pulmonary artery hypoplasia, dextraposition of the heart and an anomalous systemic blood supply to the ipsilateral lung.
has db xref: ICD10CM:Q26.8
has db xref: MESH:D012587
has db xref: MIM:106700
has db xref: NCI:C85056
has db xref: ORDO:185
has db xref: SNOMEDCT_US_2023_03_01:39905002
has db xref: UMLS_CUI:C0036400
has exact synonym: Halasz syndrome
has exact synonym: congenital venolobar syndrome
has exact synonym: hypogenetic lung syndrome
has exact synonym: mirror-image lung syndrome
has exact synonym: pulmonary venolobar syndrome
has exact synonym: total anomalous pulmonary venous return
has exact synonym: vena cava bronchovascular syndrome
has OBO namespace: disease_ontology
id: DOID:4297
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: scimitar syndrome
annotated property: IAO_0000115
annotated target: A congenital heart disease that is characterized by partial or entire anomalous curved venous drainage of the right lung to the inferior vena cava, association with variable right lung and pulmonary artery hypoplasia, dextraposition of the heart and an anomalous systemic blood supply to the ipsilateral lung.
has db xref: url:https://en.wikipedia.org/wiki/Scimitar_syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/31536209

superficial basal cell carcinoma
type: Class
subclass of: basal cell carcinoma
has db xref: ICDO:8091/3
has db xref: NCI:C4108
has db xref: SNOMEDCT_US_2023_03_01:61098004
has db xref: UMLS_CUI:C0334256
has exact synonym: Multifocal superficial basal cell carcinoma
has exact synonym: Superficial multicentric basal-cell carcinoma
has exact synonym: multicentric basal cell carcinoma
has OBO namespace: disease_ontology
id: DOID:4300
in subset: NCIthesaurus

vulva basal cell carcinoma
type: Class
subclass of: vulva carcinoma
IAO_0000115: A vulva carcinoma that has_material_basis_in basal cells.
has db xref: NCI:C6381
has db xref: SNOMEDCT_US_2023_03_01:717731002
has db xref: UMLS_CUI:C1336977
has exact synonym: Basal cell carcinoma of Vulva
has OBO namespace: disease_ontology
has related synonym: basal cell carcinoma of the vulva
id: DOID:4301
in subset: NCIthesaurus

Axiom
annotated source: vulva basal cell carcinoma
annotated property: IAO_0000115
annotated target: A vulva carcinoma that has_material_basis_in basal cells.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/22935972

sarcomatoid basal cell carcinoma
type: Class
subclass of: basal cell carcinoma
has db xref: NCI:C38111
has db xref: UMLS_CUI:C1519182
has exact synonym: skin sarcomatoid basal cell carcinoma
has OBO namespace: disease_ontology
id: DOID:4303
in subset: NCIthesaurus

signet ring basal cell carcinoma
type: Class
subclass of: basal cell carcinoma
has db xref: NCI:C38110
has db xref: UMLS_CUI:C1519320
has exact synonym: skin signet ring cell basal cell carcinoma
has OBO namespace: disease_ontology
id: DOID:4304
in subset: NCIthesaurus

bone giant cell tumor
type: Class
subclass of: benign giant cell tumor
IAO_0000115: A benign giant cell tumor that results_in the presence of multinucleated giant cells.
has db xref: MESH:D018212
has db xref: NCI:C121932
has db xref: SNOMEDCT_US_2023_03_01:697970009
has db xref: UMLS_CUI:C0206638
has exact synonym: Giant cell neoplasm of bone
has exact synonym: Giant cell tumor of bone
has exact synonym: Giant cell tumour of bone
has exact synonym: bone giant cell tumour
has OBO namespace: disease_ontology
has related synonym: giant cell myeloma
has related synonym: osteoclastoma
id: DOID:4305
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: bone giant cell tumor
annotated property: IAO_0000115
annotated target: A benign giant cell tumor that results_in the presence of multinucleated giant cells.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Giant_cell_tumor_of_bone

polyradiculopathy
type: Class
subclass of: DOID 574
IAO_0000115: A radiculopathy that is present in more than one nerve.
has db xref: MESH:D011128
has db xref: NCI:C34934
has db xref: SNOMEDCT_US_2023_03_01:75572007
has db xref: UMLS_CUI:C0032586
has OBO namespace: disease_ontology
id: DOID:4307
in subset: NCIthesaurus

Axiom
annotated source: polyradiculopathy
annotated property: IAO_0000115
annotated target: A radiculopathy that is present in more than one nerve.
has db xref: url:https://en.wikipedia.org/wiki/Radiculopathy

smooth muscle tumor
type: Class
subclass of: DOID 461
has db xref: MESH:D018235
has db xref: NCI:C3751
has db xref: SNOMEDCT_US_2023_03_01:75109009
has db xref: UMLS_CUI:C0206658
has OBO namespace: disease_ontology
id: DOID:4310
in subset: NCIthesaurus

epidermolysis bullosa acquisita
type: Class
subclass of: epidermolysis bullosa
IAO_0000115: An acquired epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, and has_material_basis_in the development of autoantibodies to type VII collagen.
has db xref: ICD10CM:L12.3
has db xref: MESH:D016107
has db xref: NCI:C84690
has db xref: SNOMEDCT_US_2023_03_01:2772003
has db xref: UMLS_CUI:C0079293
has exact synonym: acquired epidermolysis bullosa
has OBO namespace: disease_ontology
id: DOID:4313
in subset: NCIthesaurus

Axiom
annotated source: epidermolysis bullosa acquisita
annotated property: IAO_0000115
annotated target: An acquired epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, and has_material_basis_in the development of autoantibodies to type VII collagen.
type: ECO_0007645
has db xref: url:https://www.nejm.org/doi/full/10.1056/NEJMicm1204895

large cell acanthoma
type: Class
subclass of: acanthoma
has db xref: ICDO:8072/0
has db xref: NCI:C27518
has db xref: SNOMEDCT_US_2023_03_01:733894009
has db xref: UMLS_CUI:C1334362
has OBO namespace: disease_ontology
id: DOID:4321
in subset: NCIthesaurus

pilar sheath acanthoma
type: Class
subclass of: acanthoma
has db xref: ICDO:8104/0
has db xref: MESH:D049309
has db xref: NCI:C4468
has db xref: SNOMEDCT_US_2023_03_01:254693008
has db xref: UMLS_CUI:C0346005
has OBO namespace: disease_ontology
id: DOID:4322
in subset: NCIthesaurus

epidermolytic acanthoma
type: Class
subclass of: acanthoma
has db xref: NCI:C27516
has db xref: SNOMEDCT_US_2023_03_01:733892008
has db xref: UMLS_CUI:C1333414
has OBO namespace: disease_ontology
id: DOID:4323
in subset: NCIthesaurus

acantholytic acanthoma
type: Class
subclass of: acanthoma
has db xref: NCI:C27517
has db xref: SNOMEDCT_US_2023_03_01:397188008
has db xref: UMLS_CUI:C1301270
has OBO namespace: disease_ontology
id: DOID:4324
in subset: NCIthesaurus

Ebola virus disease
type: Class
subclass of: DOID 934
IAO_0000115: A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Bundibugyo virus (Orthoebolavirus bundibugyoense), Sudan ebolavirus (Orthoebolavirus sudanense), Tai Forest ebolavirus (Orthoebolavirus taiense), or Zaire ebolavirus (Orthoebolavirus zairense), which are transmitted_by contact with the body fluids of an infected animal or person, transmitted by contaminated fomites, or transmitted by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding.
has db xref: GARD:2035
has db xref: ICD10CM:A98.4
has db xref: MESH:D019142
has db xref: NCI:C36171
has db xref: SNOMEDCT_US_2023_03_01:123323003
has db xref: UMLS_CUI:C0282687
has exact synonym: Ebola
has exact synonym: Ebola disease
has exact synonym: Ebola hemorrhagic fever
has OBO namespace: disease_ontology
id: DOID:4325
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus
in subset: zoonotic infectious disease

Axiom
annotated source: Ebola virus disease
annotated property: IAO_0000115
annotated target: A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Bundibugyo virus (Orthoebolavirus bundibugyoense), Sudan ebolavirus (Orthoebolavirus sudanense), Tai Forest ebolavirus (Orthoebolavirus taiense), or Zaire ebolavirus (Orthoebolavirus zairense), which are transmitted_by contact with the body fluids of an infected animal or person, transmitted by contaminated fomites, or transmitted by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding.
type: ECO_0007637
has db xref: url:https://en.wikipedia.org/wiki/Ebola
has db xref: url:https://www.cdc.gov/ebola/about/
has db xref: url:https://www.nhs.uk/conditions/ebola/
has db xref: url:https://www.who.int/health-topics/ebola
has db xref: url:https://www.who.int/news-room/fact-sheets/detail/ebola-virus-disease

Marburg hemorrhagic fever
type: Class
subclass of: DOID 934
IAO_0000115: A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Marburg virus (Orthomarburgvirus marburgense), which is transmitted_by contact with the body fluids of an infected person. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash on the trunk, has_symptom nausea, has_symptom vomiting, has_symptom chest pain, has_symptom sore throat, has_symptom abdominal pain, has_symptom diarrhea, and has_symptom bleeding.
has db xref: GARD:9444
has db xref: ICD10CM:A98.3
has db xref: MESH:D008379
has db xref: NCI:C84883
has db xref: SNOMEDCT_US_2023_03_01:123322008
has db xref: UMLS_CUI:C0024788
has exact synonym: Marburg disease
has exact synonym: Marburg virus disease
has OBO namespace: disease_ontology
id: DOID:4327
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Marburg hemorrhagic fever
annotated property: IAO_0000115
annotated target: A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Marburg virus (Orthomarburgvirus marburgense), which is transmitted_by contact with the body fluids of an infected person. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash on the trunk, has_symptom nausea, has_symptom vomiting, has_symptom chest pain, has_symptom sore throat, has_symptom abdominal pain, has_symptom diarrhea, and has_symptom bleeding.
type: ECO_0007637
has db xref: url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/marburg/qa.htm

Erdheim-Chester disease
type: Class
subclass of: histiocytosis
IAO_0000115: A non-Langerhans-cell histiocytosis that is characterized by the proliferation in the tissues of lipid-laden macrophages and the presence of multinucleated giant cells. It results in sclerosis of the long bones and failure of the affected organs.
has db xref: GARD:6369
has db xref: ICDO:9749/3
has db xref: MESH:D031249
has db xref: NCI:C53972
has db xref: SNOMEDCT_US_2023_03_01:703711007
has db xref: UMLS_CUI:C0878675
has OBO namespace: disease_ontology
id: DOID:4329
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Erdheim-Chester disease
annotated property: IAO_0000115
annotated target: A non-Langerhans-cell histiocytosis that is characterized by the proliferation in the tissues of lipid-laden macrophages and the presence of multinucleated giant cells. It results in sclerosis of the long bones and failure of the affected organs.
has db xref: url:https://medlineplus.gov/genetics/condition/erdheim-chester-disease/
has db xref: url:https://rarediseases.org/rare-diseases/erdheim-chester-disease/

burning mouth syndrome
type: Class
subclass of: mouth disease
IAO_0000115: A mouth disease that is characterized by long-lasting burning sensations of the mouth.
has db xref: GARD:5974
has db xref: MESH:D002054
has db xref: NCI:C62545
has db xref: SNOMEDCT_US_2023_03_01:111349000
has db xref: UMLS_CUI:C0006430
has exact synonym: Orodynia
has exact synonym: Stomatopyrosis
has OBO namespace: disease_ontology
id: DOID:4331
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: burning mouth syndrome
annotated property: IAO_0000115
annotated target: A mouth disease that is characterized by long-lasting burning sensations of the mouth.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/30189984/

splenic manifestation of prolymphocytic leukemia
type: Class
subclass of: DOID 710
has db xref: NCI:C7297
has db xref: UMLS_CUI:C1336066
has OBO namespace: disease_ontology
id: DOID:4334
in subset: NCIthesaurus

tinea favosa
type: Class
subclass of: tinea capitis
IAO_0000115: A tinea capitis that results_in fungal infection located_in scalp, located_in glabrous skin or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and results_in_formation_of scutula, yellowish cup-shaped crusts of dense masses of mycelium and epithelial debris, which develop at the surface of a hair follicle with the shaft in the center of the raised lesion. Removal of these crusts reveals an oozing, moist, red base. Later, atrophy of the skin occurs leaving a cicatricial alopecia and scarring.
has alternative id: DOID:0050109
has db xref: ICD10CM:B35
has db xref: MESH:D014007
has db xref: NCI:C35072
has db xref: SNOMEDCT_US_2023_03_01:85375000
has db xref: UMLS_CUI:C0040254
has exact synonym: favus
has OBO namespace: disease_ontology
id: DOID:4336
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: tinea favosa
annotated property: IAO_0000115
annotated target: A tinea capitis that results_in fungal infection located_in scalp, located_in glabrous skin or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and results_in_formation_of scutula, yellowish cup-shaped crusts of dense masses of mycelium and epithelial debris, which develop at the surface of a hair follicle with the shaft in the center of the raised lesion. Removal of these crusts reveals an oozing, moist, red base. Later, atrophy of the skin occurs leaving a cicatricial alopecia and scarring.
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3885931/

tinea capitis
type: Class
subclass of: DOID 8913
IAO_0000115: A dermatophytosis that results_in contagious fungal infection located_in scalp, located_in hair of head, located_in eyebrow or located_in eyelash, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching of the scalp, has_symptom pus filled lesions on the scalp, and has_symptom patches of hair loss, sometimes with a 'black dot' pattern.
has alternative id: DOID:0050114
has alternative id: DOID:12319
has db xref: ICD9CM:110.0
has db xref: NCI:C34536
has db xref: SNOMEDCT_US_2023_03_01:186985002
has db xref: UMLS_CUI:C0011640
has exact synonym: Scalp ringworm
has exact synonym: Trichophyton rubrum tinea capitis
has exact synonym: dermatophytosis of scalp or beard
has exact synonym: tinea capitis due to Trichophyton rubrum
has OBO namespace: disease_ontology
has related synonym: Dermatophytosis of scalp
id: DOID:4337
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: tinea capitis
annotated property: IAO_0000115
annotated target: A dermatophytosis that results_in contagious fungal infection located_in scalp, located_in hair of head, located_in eyebrow or located_in eyelash, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching of the scalp, has_symptom pus filled lesions on the scalp, and has_symptom patches of hair loss, sometimes with a 'black dot' pattern.
type: ECO_0007640
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/000878.htm
has db xref: url:https://drfungus.org/knowledge-base/tinea-capitis/

variegate porphyria
type: Class
subclass of: porphyria
has db xref: GARD:7848
has db xref: MESH:D046350
has db xref: MIM:176200
has db xref: NCI:C85219
has db xref: SNOMEDCT_US_2023_03_01:58275005
has db xref: UMLS_CUI:C0162532
has exact synonym: Protocoproporphyria
has exact synonym: Protoporphyrinogen oxidase deficiency
has OBO namespace: disease_ontology
id: DOID:4346
in subset: DO rare slim
in subset: NCIthesaurus

lymphocele
type: Class
subclass of: disease
has db xref: MESH:D008210
has db xref: NCI:C78442
has db xref: SNOMEDCT_US_2023_03_01:234109007
has db xref: UMLS_CUI:C0024248
has exact synonym: Lymph cyst
has OBO namespace: disease_ontology
id: DOID:4347
in subset: NCIthesaurus

ciliary body cancer
type: Class
subclass of: uveal cancer
has alternative id: DOID:6352
has db xref: ICD10CM:C69.4
has db xref: NCI:C4364
has db xref: NCI:C4766
has db xref: SNOMEDCT_US_2023_03_01:126998003
has db xref: SNOMEDCT_US_2023_03_01:93756008
has db xref: UMLS_CUI:C0339349
has db xref: UMLS_CUI:C0496833
has exact synonym: malignant neoplasm of ciliary body
has exact synonym: malignant tumor of ciliary body
has exact synonym: malignant tumor of the Ciliary body
has exact synonym: neoplasm of ciliary body
has exact synonym: tumor of the Ciliary body
has OBO namespace: disease_ontology
id: DOID:4352
in subset: NCIthesaurus

ciliary body disease
type: Class
subclass of: iris disease
IAO_0000115: An iris disease that is located_in the ciliary body.
has db xref: NCI:C35775
has db xref: SNOMEDCT_US_2023_03_01:68575007
has db xref: UMLS_CUI:C0271100
has OBO namespace: disease_ontology
id: DOID:4353
in subset: NCIthesaurus

Axiom
annotated source: ciliary body disease
annotated property: IAO_0000115
annotated target: An iris disease that is located_in the ciliary body.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/35695216/

amelanotic melanoma
type: Class
subclass of: melanoma
has db xref: ICDO:8730/3
has db xref: MESH:D018328
has db xref: NCI:C3802
has db xref: SNOMEDCT_US_2023_03_01:70594002
has db xref: UMLS_CUI:C0206735
has OBO namespace: disease_ontology
id: DOID:4359
in subset: DO cancer slim
in subset: NCIthesaurus

epithelioid cell melanoma
type: Class
subclass of: melanoma
has db xref: ICDO:8771/3
has db xref: NCI:C4236
has db xref: SNOMEDCT_US_2023_03_01:37138001
has db xref: UMLS_CUI:C0334443
has exact synonym: epithelioid melanoma
has OBO namespace: disease_ontology
id: DOID:4360
in subset: DO cancer slim
in subset: NCIthesaurus

cervical cancer
type: Class
subclass of: female reproductive organ cancer
IAO_0000115: A female reproductive organ cancer that is located_in the cervix.
has alternative id: DOID:4361
has db xref: ICD10CM:C53
has db xref: ICD9CM:180
has db xref: MESH:D002583
has db xref: MIM:603956
has db xref: NCI:C2940
has db xref: NCI:C9311
has db xref: SNOMEDCT_US_2023_03_01:123841004
has db xref: SNOMEDCT_US_2023_03_01:254885005
has db xref: UMLS_CUI:C0007847
has db xref: UMLS_CUI:C0007873
has exact synonym: cervical neoplasm
has exact synonym: cervix cancer
has exact synonym: cervix uteri cancer
has exact synonym: neoplasm of uterine cervix
has exact synonym: tumor of the Cervix Uteri
has exact synonym: uterine cervical neoplasm
has OBO namespace: disease_ontology
id: DOID:4362
in subset: DO CFDE slim
in subset: DO cancer slim
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim

Axiom
annotated source: cervical cancer
annotated property: IAO_0000115
annotated target: A female reproductive organ cancer that is located_in the cervix.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007641
has db xref: url:http://cancergenome.nih.gov/cancersselected/cervicalcancer
has db xref: url:http://en.wikipedia.org/wiki/Cervical_cancer
has db xref: url:http://www.cancer.gov/dictionary?CdrID=444973

malignant breast melanoma
type: Class
subclass of: breast cancer
IAO_0000115: A breast cancer that arises_from melanocytes.
has db xref: NCI:C8410
has db xref: SNOMEDCT_US_2023_03_01:188050009
has db xref: UMLS_CUI:C0346787
has exact synonym: breast melanoma
has exact synonym: malignant melanoma of breast
has OBO namespace: disease_ontology
id: DOID:4364
in subset: NCIthesaurus

Axiom
annotated source: malignant breast melanoma
annotated property: IAO_0000115
annotated target: A breast cancer that arises_from melanocytes.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/15845569

apparent mineralocorticoid excess syndrome
type: Class
subclass of: DOID 655
IAO_0000115: A steroid inherited metabolic disorder characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16.
has alternative id: DOID:0090121
has db xref: GARD:433
has db xref: MESH:D043204
has db xref: MIM:218030
has db xref: NCI:C123231
has db xref: ORDO:320
has db xref: SNOMEDCT_US_2023_03_01:237770005
has db xref: UMLS_CUI:C0342488
has exact synonym: 11-beta-hydroxysteroid dehydrogenase deficiency type 2
has exact synonym: Ulick syndrome
has exact synonym: cortisol 11-beta-ketoreductase deficiency
has exact synonym: syndrome of apparent mineralocorticoid excess
has OBO namespace: disease_ontology
id: DOID:4367
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: apparent mineralocorticoid excess syndrome
annotated property: IAO_0000115
annotated target: A steroid inherited metabolic disorder characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16.
type: ECO_0007636
has db xref: url:https://www.omim.org/entry/218030

myasthenia gravis
type: Class
subclass of: autoimmune disease of the nervous system
IAO_0000115: An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath.
has alternative id: DOID:443
has alternative id: DOID:444
has db xref: GARD:7122
has db xref: ICD10CM:G70.0
has db xref: ICD10CM:G70.00
has db xref: ICD9CM:358.0
has db xref: ICD9CM:358.00
has db xref: MESH:D009157
has db xref: MIM:254200
has db xref: NCI:C60989
has db xref: SNOMEDCT_US_2023_03_01:155092009
has db xref: UMLS_CUI:C0026896
has db xref: UMLS_CUI:C1260409
has OBO namespace: disease_ontology
id: DOID:437
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: myasthenia gravis
annotated property: IAO_0000115
annotated target: An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath.
has db xref: url:https://www.ninds.nih.gov/health-information/disorders/myasthenia-gravis

egg allergy
type: Class
subclass of: food allergy
IAO_0000115: A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms.
has db xref: MESH:D021181
has db xref: NCI:C172313
has db xref: SNOMEDCT_US_2023_03_01:91930004
has db xref: UMLS_CUI:C0559469
has exact synonym: Allergy to eggs
has OBO namespace: disease_ontology
id: DOID:4377
in subset: DO IEDB slim
in subset: NCIthesaurus

Axiom
annotated source: egg allergy
annotated property: IAO_0000115
annotated target: A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Allergy#Foods
comment: ls:IEDB

nut allergy
type: Class
subclass of: food allergy
IAO_0000115: A food allergy that develops_from exposure to and particularly consumption of nuts, and has_symptom asthma, skin rashes, throat and eye irritation, and anaphylaxis.
has db xref: MESH:D021184
has db xref: NCI:C175521
has db xref: SNOMEDCT_US_2023_03_01:395654004
has db xref: UMLS_CUI:C0577620
has exact synonym: allergy to nuts
has exact synonym: nut allergic reaction
has OBO namespace: disease_ontology
id: DOID:4379
in subset: DO IEDB slim
in subset: NCIthesaurus

Axiom
annotated source: nut allergy
annotated property: IAO_0000115
annotated target: A food allergy that develops_from exposure to and particularly consumption of nuts, and has_symptom asthma, skin rashes, throat and eye irritation, and anaphylaxis.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Tree_nut_allergy

autoimmune disease of the nervous system
type: Class
subclass of: disease
IAO_0000115: An autoimmune disease affecting the nervous system.
has db xref: MESH:D020274
has db xref: NCI:C99383
has db xref: UMLS_CUI:C0751871
has OBO namespace: disease_ontology
has related synonym: autoimmune nervous system disorder
id: DOID:438
in subset: NCIthesaurus

Axiom
annotated source: autoimmune disease of the nervous system
annotated property: IAO_0000115
annotated target: An autoimmune disease affecting the nervous system.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1003353/
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/21619947

orbit alveolar rhabdomyosarcoma
type: Class
subclass of: orbit rhabdomyosarcoma
IAO_0000115: An orbit rhabdomyosarcoma that is characterized by ill-defined aggregates of poorly differentiated malignant cells that are loosely arranged and separated into irregular ovoid spaces by thin fibrovascular septa in an alveolar pattern which is absent in the solid form.
has db xref: NCI:C6247
has db xref: UMLS_CUI:C1335126
has exact synonym: Alveolar Rhabdomyosarcoma of the orbit
has OBO namespace: disease_ontology
id: DOID:4384
in subset: NCIthesaurus

Axiom
annotated source: orbit alveolar rhabdomyosarcoma
annotated property: IAO_0000115
annotated target: An orbit rhabdomyosarcoma that is characterized by ill-defined aggregates of poorly differentiated malignant cells that are loosely arranged and separated into irregular ovoid spaces by thin fibrovascular septa in an alveolar pattern which is absent in the solid form.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/31146616/

papillary squamous carcinoma
type: Class
subclass of: squamous cell carcinoma
IAO_0000115: A squamous cell carcinoma that has papillae, which are characterized either by narrow fibrovascular cores that superficially resemble papillary carcinoma of the urinary tract or by broad cores that contain edematous fibrous stroma with prominent capillaries and stromal inflammation.
has db xref: NCI:C4102
has db xref: SNOMEDCT_US_2023_03_01:39056008
has db xref: UMLS_CUI:C0334244
has exact synonym: papillary epidermoid carcinoma
has OBO namespace: disease_ontology
id: DOID:4385
in subset: NCIthesaurus

Axiom
annotated source: papillary squamous carcinoma
annotated property: IAO_0000115
annotated target: A squamous cell carcinoma that has papillae, which are characterized either by narrow fibrovascular cores that superficially resemble papillary carcinoma of the urinary tract or by broad cores that contain edematous fibrous stroma with prominent capillaries and stromal inflammation.
type: ECO_0007645
has db xref: url:http://www.sciencedirect.com/science/article/pii/S0090825803003299

bone peripheral neuroepithelioma
type: Class
subclass of: Ewing sarcoma of bone
has db xref: NCI:C8776
has db xref: UMLS_CUI:C0855009
has exact synonym: osseous peripheral Neuroepithelioma
has OBO namespace: disease_ontology
id: DOID:4388
in subset: NCIthesaurus

soft tissue peripheral neuroepithelioma
type: Class
subclass of: extraosseous Ewing sarcoma
has db xref: NCI:C27471
has db xref: UMLS_CUI:C1112437
has exact synonym: peripheral Neuroectodermal tumor of soft tissues
has OBO namespace: disease_ontology
id: DOID:4389
in subset: NCIthesaurus

reticulohistiocytic granuloma
type: Class
subclass of: histiocytosis
has db xref: GARD:12967
has db xref: MESH:D015616
has db xref: NCI:C3356
has db xref: SNOMEDCT_US_2023_03_01:15960008
has db xref: UMLS_CUI:C0035290
has exact synonym: Reticulohistiocytoma
has exact synonym: solitary reticulohistiocytoma
has OBO namespace: disease_ontology
id: DOID:4394
in subset: DO rare slim
in subset: NCIthesaurus

granulomatous dermatitis
type: Class
subclass of: dermatitis
has db xref: NCI:C3505
has db xref: UMLS_CUI:C0743086
has OBO namespace: disease_ontology
id: DOID:4397
in subset: NCIthesaurus

pustulosis of palm and sole
type: Class
subclass of: dermatitis
has db xref: ICD10CM:L40.3
has db xref: MESH:D011565
has db xref: NCI:C34888
has db xref: SNOMEDCT_US_2023_03_01:238610005
has db xref: UMLS_CUI:C0030246
has exact synonym: Acropustulosis
has exact synonym: Palmoplantar Pustulosis
has exact synonym: Pustular psoriasis of the palms and/or soles
has OBO namespace: disease_ontology
id: DOID:4398
in subset: NCIthesaurus

acneiform dermatitis
type: Class
subclass of: dermatitis
has db xref: NCI:C35277
has db xref: UMLS_CUI:C0234894
has OBO namespace: disease_ontology
id: DOID:4399
in subset: NCIthesaurus

neuromuscular disease
type: Class
subclass of: DOID 870
IAO_0000115: A neuropathy that affect the nerves that control the voluntary muscles.
has db xref: ICD10CM:G70.9
has db xref: ICD9CM:358
has db xref: MESH:D009468
has db xref: NCI:C189005
has db xref: SNOMEDCT_US_2023_03_01:1664005
has db xref: UMLS_CUI:C0027868
has OBO namespace: disease_ontology
id: DOID:440
in subset: NCIthesaurus

Axiom
annotated source: neuromuscular disease
annotated property: IAO_0000115
annotated target: A neuropathy that affect the nerves that control the voluntary muscles.
type: ECO_0007644
has db xref: url:http://www.nlm.nih.gov/medlineplus/neuromusculardisorders.html

dermatosis papulosa nigra
type: Class
subclass of: dermatitis
has db xref: ICD10CM:L82
has db xref: MESH:C562379
has db xref: MIM:125600
has db xref: NCI:C2984
has db xref: SNOMEDCT_US_2023_03_01:254669003
has db xref: UMLS_CUI:C0011645
has OBO namespace: disease_ontology
id: DOID:4400
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].