{ "uniprot_canonical_ac": "P81563-1", "uniprot_ac": "P81563", "uniprot_id": "MMP1_RAT", "mass": { "chemical_mass": 1787.0, "monoisotopic_mass": 1787.0 }, "refseq": { "ac": "NP_001128002", "name": "interstitial collagenase precursor", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128002" }, "gene_names": [ { "name": "Mmp1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P81563", "id": "P81563" }, { "name": "Clgn; MMP-1; Mmp1a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128002", "id": "NP_001128002" }, { "name": "Mmp1a", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P81563", "id": "P81563" }, { "name": "Mmp1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128002", "id": "NP_001128002" } ], "protein_names": [ { "name": "Interstitial collagenase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P81563" }, { "name": "3.4.24.7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P81563" }, { "name": "Fibroblast collagenase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P81563" }, { "name": "MMP-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P81563" }, { "name": "Matrix metalloproteinase-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P81563" }, { "name": "Myocardial collagenase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P81563" }, { "name": "interstitial collagenase precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128002", "id": "NP_001128002" }, { "name": "matrix metalloproteinase 1a (interstitial collagenase); fibroblast collagenase; myocardial collagenase; matrix metallopeptidase 1a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128002", "id": "NP_001128002" } ], "function": [ { "annotation": "Berberine alleviates monosodium glutamate induced postnatal metabolic disorders associated vascular endothelial dysfunction in newborn rats: possible role of matrix metalloproteinase-1.", "evidence": [ { "database": "RefSeq", "id": "NP_001128002", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128002" }, { "database": "PubMed", "id": "32072839", "url": "https://glygen.org/publication/PubMed/32072839" } ] }, { "annotation": "Cleaves collagens of types I, II, and III at one site in the helical domain. Also cleaves collagens of types VII and X. May play a role in the deterioration of the heart wall extracellular matrix proteins during the onset of dilated cardiomyopathy.", "evidence": [ { "database": "UniProtKB", "id": "P81563", "url": "https://www.uniprot.org/uniprot/P81563#function" } ] }, { "annotation": "Differential MMP 1 and MMP 13 expression in proliferation and ligamentization phases of graft remodeling in anterior cruciate ligament reconstruction.", "evidence": [ { "database": "RefSeq", "id": "NP_001128002", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128002" }, { "database": "PubMed", "id": "33356628", "url": "https://glygen.org/publication/PubMed/33356628" } ] }, { "annotation": "Placental ischemia, possibly through the release of TNF-alpha, causes increases in the levels of matrix metalloproteinase (MMP)-1 and MMP-7, which could alter collagen deposition and cause inadequate uteroplacental and vascular remodeling in hypertension in pregnancy.", "evidence": [ { "database": "RefSeq", "id": "NP_001128002", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128002" }, { "database": "PubMed", "id": "28626073", "url": "https://glygen.org/publication/PubMed/28626073" } ] }, { "annotation": "The expression and significance of NF-kappaB, MMP1, and MMP2 in rats with abdominal aortic aneurysm. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001128002", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128002" }, { "database": "PubMed", "id": "32538742", "url": "https://glygen.org/publication/PubMed/32538742" } ] } ], "disease": [ { "disease_id": "DOID:0050156", "recommended_name": { "id": "DOID:0050156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050156", "name": "idiopathic pulmonary fibrosis", "description": "A pulmonary fibrosis that is characterized by scarring of the lung." }, "synonyms": [ { "id": "DOID:0050156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050156", "name": "FIBROCYSTIC PULMONARY DYSPLASIA", "description": "" }, { "id": "DOID:0050156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050156", "name": "IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL", "description": "" }, { "id": "DOID:0050156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050156", "name": "cryptogenic fibrosing alveolitis", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "interstitial lung disease 2", "description": "A nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause." }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "CFA", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "ILD2", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "IPF", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "UIP", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "cryptogenic fibrosing alveolitis", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "fibrocystic pulmonary dysplasia", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "fibrosing alveolitis, cryptogenic", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "idiopathic pulmonary fibrosis, familial", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "interstitial pneumonitis, usual", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "usual 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"https://www.alliancegenome.org/disease/DOID:0050156" } ] }, { "disease_id": "DOID:0050851", "recommended_name": { "id": "DOID:0050851", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050851", "name": "glomerulosclerosis", "description": "A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney." }, "synonyms": [], "evidence": [ { "id": "0050851", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050851" } ] }, { "disease_id": "DOID:0050855", "recommended_name": { "id": "DOID:0050855", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050855", "name": "renal fibrosis", "description": "A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function." }, "synonyms": [], "evidence": [ { "id": "0050855", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050855" } ] }, { "disease_id": "DOID:0060224", "recommended_name": { "id": "DOID:0060224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060224", "name": "atrial fibrillation", "description": "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." }, "synonyms": [ { "id": "DOID:0060224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060224", "name": "A-fib", "description": "" }, { "id": "DOID:0060224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060224", "name": "AFib", "description": "" } ], "evidence": [ { "id": "0060224", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060224" } ] }, { "disease_id": "DOID:0060249", "recommended_name": { "id": "DOID:0060249", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060249", "name": "scoliosis", "description": "A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine." }, "synonyms": [], "evidence": [ { "id": "0060249", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060249" } ] }, { "disease_id": "DOID:0060903", "recommended_name": { "id": "DOID:0060903", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060903", "name": "thrombosis", "description": "A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system." }, "synonyms": [], "evidence": [ { "id": "0060903", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060903" } ] }, { "disease_id": "DOID:0080600", "recommended_name": { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "COVID-19", "description": "A Coronavirus infection that is characterized by fever, cough and shortness of breath and that has_material_basis_in SARS-CoV-2." }, "synonyms": [ { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "2019 Novel Coronavirus (2019-nCoV)", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "2019-nCoV infection", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "Wuhan coronavirus infection", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "Wuhan seafood market pneumonia virus infection", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "COVID19", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "SARS-CoV-2 infection", "description": "" } ], "evidence": [ { "id": "0080600", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080600" } ] }, { "disease_id": "DOID:0080933", "recommended_name": { "id": "DOID:0080933", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080933", "name": "immunoglobulin light chain amyloidosis", "description": "An amyloidosis that is characterized by misfolded and aggregated amyloidogenic immunoglobulin light chains produced by marrow clonal plasma cells." }, "synonyms": [ { "id": 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"description": "" }, { "id": "DOID:0080933", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080933", "name": "Systemic AL amyloidsis", "description": "" } ], "evidence": [ { "id": "0080933", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080933" } ] }, { "disease_id": "DOID:1070", "recommended_name": { "id": "DOID:1070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1070", "name": "primary open angle glaucoma", "description": "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." }, "synonyms": [ { "id": "DOID:1070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1070", "name": "chronic simple glaucoma", "description": "" }, { "id": "MONDO:0007665", "resource": "MONDO", "url": 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A form of glaucoma in which there is no visible abnormality in the trabecular meshwork." }, { "id": "MONDO:0007665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007665", "name": "chronic simple glaucoma", "description": "" }, { "id": "MONDO:0007665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007665", "name": "glaucoma 1, open angle, E", "description": "" }, { "id": "MONDO:0007665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007665", "name": "glaucoma, primary open angle, adult-onset", "description": "" }, { "id": "MIM:137760", "resource": "MIM", "url": "https://www.omim.org/entry/137760", "name": "Glaucoma, primary open angle", "description": "Glaucoma, primary open angle" } ], "evidence": [ { "id": "1070", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1070" } ] }, { "disease_id": "DOID:10763", "recommended_name": { "id": "DOID:10763", 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"http://disease-ontology.org/term/DOID:10964", "name": "cholesteatoma", "description": "" }, { "id": "DOID:10964", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10964", "name": "middle ear cholesteatoma", "description": "" } ], "evidence": [ { "id": "10964", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10964" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of 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"description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "evidence": [ { "id": "11054", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:11984", "recommended_name": { "id": "DOID:11984", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause." }, "synonyms": [ { "id": "DOID:11984", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11984", "name": "hypertrophic obstructive cardiomyopathy", "description": "" } ], "evidence": [ { "id": "11984", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ] }, { "disease_id": "DOID:12930", "recommended_name": { "id": "DOID:12930", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently." }, "synonyms": [ { "id": "DOID:12930", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12930", "name": "primary dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, congestive", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, familial idiopathic", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, idiopathic dilated", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ], "evidence": [ { "id": "12930", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ] }, { "disease_id": "DOID:13001", "recommended_name": { "id": "DOID:13001", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13001", "name": "carotid stenosis", "description": "" }, "synonyms": [ { "id": "DOID:13001", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13001", "name": "Carotid artery stenosis", "description": "" }, { "id": "DOID:13001", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13001", "name": "Stenosis, carotid artery", "description": "" } ], "evidence": [ { "id": "13001", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13001" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "evidence": [ { "id": "1324", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:14004", "recommended_name": { "id": "DOID:14004", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14004", "name": "thoracic aortic aneurysm", "description": "An aortic aneurysm that is located_in the thoracic aorta." }, "synonyms": [ { "id": "MONDO:0013418", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013418", "name": "aortic aneurysm, familial thoracic 7", "description": "" }, { "id": "MONDO:0013418", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013418", "name": "aortic aneurysm, familial thoracic 7", "description": "" }, { "id": "MONDO:0013418", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013418", "name": "aortic aneurysm, familial thoracic type 7", "description": "" }, { "id": "MONDO:0013418", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013418", "name": "AAT7", "description": "" }, { "id": "MONDO:0013418", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013418", "name": "aortic dissection, familial, with or without aortic aneurysm", "description": "" }, { "id": "MONDO:0007568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007568", "name": "aortic aneurysm, familial thoracic 4", "description": "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MYH11 gene." }, { "id": "MONDO:0007568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007568", "name": "MYH11 familial thoracic aortic aneurysm and aortic dissection", "description": "" }, { "id": "MONDO:0007568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007568", "name": "aortic aneurysm, familial thoracic 4", "description": "" }, { "id": "MONDO:0007568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007568", "name": "aortic aneurysm, familial thoracic type 4", "description": "" }, { "id": "MONDO:0007568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007568", "name": "familial thoracic aortic aneurysm and aortic dissection caused by mutation in MYH11", "description": "" }, { "id": "MONDO:0007568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007568", "name": "AAT4", "description": "" }, { "id": "MONDO:0007568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007568", "name": "FAA4", "description": "" }, { "id": "MONDO:0007568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007568", "name": "aortic aneurysm/aortic dissection and patent ductus arteriosus", "description": "" }, { "id": "MONDO:0012730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012730", "name": "aortic aneurysm, familial thoracic 6", "description": "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the ACTA2 gene." }, { "id": "MONDO:0012730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012730", "name": "ACTA2 familial thoracic aortic aneurysm and aortic dissection", "description": "" }, { "id": "MONDO:0012730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012730", "name": "aortic aneurysm, familial thoracic 6", "description": "" }, { "id": "MONDO:0012730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012730", "name": "aortic aneurysm, familial thoracic type 6", "description": "" }, { "id": "MONDO:0012730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012730", "name": "familial thoracic aortic aneurysm and aortic dissection caused by mutation in ACTA2", "description": "" }, { "id": "MONDO:0012730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012730", "name": "AAT6", "description": "" }, { "id": "MONDO:0012730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012730", "name": "familial thoracic aortic aneurysm with livedo reticularis and iris flocculi", "description": "" }, { "id": "MONDO:0011770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011770", "name": "aortic aneurysm, familial thoracic 2", "description": "" }, { "id": "MONDO:0011770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011770", "name": "aortic aneurysm, familial thoracic 2", "description": "" }, { "id": "MONDO:0011770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011770", "name": "AAT2", "description": "" }, { "id": "MONDO:0011770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011770", "name": "FAA2", "description": "" }, { "id": "MONDO:0024559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024559", "name": "aortic aneurysm, familial thoracic 1", "description": "" }, { "id": "MONDO:0024559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024559", "name": "AAT1", "description": "" }, { "id": "MONDO:0024559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024559", "name": "Erdheim cystic medial necrosis of aorta", "description": "" }, { "id": "MONDO:0024559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024559", "name": "FAA1", "description": "" }, { "id": "MONDO:0024559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024559", "name": "aneurysm, thoracic aortic", "description": "" }, { "id": "MONDO:0024559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024559", "name": "annuloaortic ectasia", "description": "" }, { "id": "MONDO:0024559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024559", "name": "aortic aneurysm, familial thoracic", "description": "" }, { "id": "MONDO:0024559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024559", "name": "aortic dissection, familial", "description": "" }, { "id": "MONDO:0014187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014187", "name": "aortic aneurysm, familial thoracic 8", "description": "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the PRKG1 gene." }, { "id": "MONDO:0014187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014187", "name": "PRKG1 familial thoracic aortic aneurysm and aortic dissection", "description": "" }, { "id": "MONDO:0014187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014187", "name": "aortic aneurysm, familial thoracic 8", "description": "" }, { "id": "MONDO:0014187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014187", "name": "aortic aneurysm, familial thoracic type 8", "description": "" }, { "id": "MONDO:0014187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014187", "name": "familial thoracic aortic aneurysm and aortic dissection caused by mutation in PRKG1", "description": "" }, { "id": "MONDO:0014187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014187", "name": "AAT8", "description": "" }, { "id": "MIM:613780", "resource": "MIM", "url": "https://www.omim.org/entry/613780", "name": "Aortic aneurysm, familial thoracic 7", "description": "Aortic aneurysm, familial thoracic 7" }, { "id": "MIM:132900", "resource": "MIM", "url": "https://www.omim.org/entry/132900", "name": "Aortic aneurysm, familial thoracic 4", "description": "Aortic aneurysm, familial thoracic 4" }, { "id": "MIM:611788", "resource": "MIM", "url": "https://www.omim.org/entry/611788", "name": "Aortic aneurysm, familial thoracic 6", "description": "Aortic aneurysm, familial thoracic 6" }, { "id": "MIM:615436", "resource": "MIM", "url": "https://www.omim.org/entry/615436", "name": "Aortic aneurysm, familial thoracic 8", "description": "Aortic aneurysm, familial thoracic 8" } ], "evidence": [ { "id": "14004", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:14004" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "evidence": [ { "id": "1612", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:1712", "recommended_name": { "id": "DOID:1712", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1712", "name": "aortic valve stenosis", "description": "An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening." }, "synonyms": [ { "id": "DOID:1712", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1712", "name": "Aortic stenosis", "description": "" }, { "id": "DOID:1712", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1712", "name": "Rheumatic aortic stenosis", "description": "" }, { "id": "DOID:1712", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1712", "name": "rheumatic aortic valve stenosis", "description": "" } ], "evidence": [ { "id": "1712", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1712" } ] }, { "disease_id": "DOID:1936", "recommended_name": { "id": "DOID:1936", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1936", "name": "atherosclerosis", "description": "" }, "synonyms": [], "evidence": [ { "id": "1936", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ] }, { "disease_id": "DOID:2320", "recommended_name": { "id": "DOID:2320", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2320", "name": "obstructive lung disease", "description": "A lung disease that is characterized by narrowing of pulmonary airways." }, "synonyms": [ { "id": "DOID:2320", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2320", "name": "respiratory airway obstruction", "description": "" } ], "evidence": [ { "id": "2320", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2320" } ] }, { "disease_id": "DOID:2349", "recommended_name": { "id": "DOID:2349", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries." }, "synonyms": [ { "id": "DOID:2349", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2349", "name": "Arteriosclerotic vascular disease", "description": "" } ], "evidence": [ { "id": "2349", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ] }, { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, epithelial", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "primary ovarian cancer", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "evidence": [ { "id": "2394", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] }, { "disease_id": "DOID:3083", "recommended_name": { "id": "DOID:3083", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "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." }, "synonyms": [ { "id": "DOID:3083", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3083", "name": "COLD", "description": "" }, { "id": "DOID:3083", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3083", "name": "COPD", "description": "" }, { "id": "DOID:3083", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3083", "name": "chronic obstructive airway disease", "description": "" }, { "id": "DOID:3083", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3083", "name": "chronic obstructive lung disease", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "chronic obstructive pulmonary disease", "description": "A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema." }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "COPD", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "COPD, chronic obstructive pulmonary disease", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "chronic obstructive airway disease", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "chronic obstructive airways disease", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "chronic obstructive lung disease", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "chronic obstructive pulmonary disease (COPD)", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "chronic obstructive pulmonary disease, (COPD)", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "cold", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "cold (chronic obstructive lung disease)", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "disease (COPD), chronic obstructive", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "obstructive lung disease, chronic", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "obstructive pulmonary disease (COPD), chronic", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "pulmonary disease (COPD), chronic obstructive", "description": "" } ], "evidence": [ { "id": "3083", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ] }, { "disease_id": "DOID:332", "recommended_name": { "id": "DOID:332", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing." }, "synonyms": [ { "id": "DOID:332", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:332", "name": "ALS", "description": "" }, { "id": "DOID:332", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:332", "name": "Lou Gehrig's disease", "description": "" }, { "id": "DOID:332", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:332", "name": "motor neuron disease, bulbar", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis type 1", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "ALS1", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis 1", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis type 1", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "FALS", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis 1, autosomal dominant", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis 1, autosomal dominant amyotrophic lateral sclerosis 1, autosomal recessive, included", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis 1, autosomal recessive", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis 1, familial", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis, autosomal dominant", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis, familial", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis, sporadic", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis, sporadic, included", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis, susceptibility to", "description": "" }, { "id": "MIM:105400", "resource": "MIM", "url": "https://www.omim.org/entry/105400", "name": "Amyotrophic lateral sclerosis 1", "description": "Amyotrophic lateral sclerosis 1" } ], "evidence": [ { "id": "332", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:332" } ] }, { "disease_id": "DOID:3393", "recommended_name": { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "coronary artery disease", "description": "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." }, "synonyms": [ { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "CHD", "description": "" }, { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "Coronary disease", "description": "" }, { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "coronary arteriosclerosis", "description": "" }, { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "coronary heart disease", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "coronary heart disease, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "coronary heart disease, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "coronary heart disease, susceptibility to, type 4", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "Chds4", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "coronary heart disease, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "coronary heart disease, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "coronary heart disease, susceptibility to, type 2", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "Chds2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform mole, recurrent, 2", "description": "Any complete hydatidiform mole in which the cause of the disease is a mutation in the KHDC3L gene." }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "KHDC3L complete hydatidiform mole", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "complete hydatidiform mole caused by mutation in KHDC3L", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform Mole, recurrent, type 2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform mole, recurrent, 2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "HYDM2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform MOLE, recurrent, 2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform Mole, complete", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to, 1", "description": "Any coronary artery disease in which the cause of the disease is a mutation in the CX3CR1 gene." }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "CX3CR1 coronary artery disease", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary artery disease caused by mutation in CX3CR1", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary artery disease, resistance to", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to, type 1", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "Chds1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease, autosomal dominant, 1", "description": "Any coronary artery disease in which the cause of the disease is a mutation in the MEF2A gene." }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "MEF2A coronary artery disease", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease caused by mutation in MEF2A", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease, autosomal dominant, 1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease, autosomal dominant, type 1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "ADCAD1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease with myocardial infarction", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant 2", "description": "Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene." }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "LRP6 coronary artery disease", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease caused by mutation in LRP6", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery 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"https://monarchinitiative.org/disease/MONDO:0012788", "name": "coronary heart disease, susceptibility to, 9", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "coronary heart disease, susceptibility to, 3", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "coronary heart disease, susceptibility to, 3", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "coronary heart disease, susceptibility to, type 3", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "Chds3", "description": "" }, { "id": "MONDO:0012628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012628", "name": "coronary heart disease, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012628", "name": "CHDS8", "description": "" }, { "id": "MONDO:0012628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012628", "name": "coronary heart disease, susceptibility to, 8", "description": "" }, { "id": "MIM:614293", "resource": "MIM", "url": "https://www.omim.org/entry/614293", "name": "Hydatidiform mole, recurrent, 2", "description": "Hydatidiform mole, recurrent, 2" }, { "id": "MIM:608320", "resource": "MIM", "url": "https://www.omim.org/entry/608320", "name": "Coronary artery disease, autosomal dominant, 1", "description": "Coronary artery disease, autosomal dominant, 1" }, { "id": "MIM:610947", "resource": "MIM", "url": "https://www.omim.org/entry/610947", "name": "Coronary artery disease, autosomal dominant, 2", "description": "Coronary artery disease, autosomal dominant, 2" } ], "evidence": [ { "id": "3393", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ] }, { "disease_id": "DOID:3407", "recommended_name": { "id": "DOID:3407", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3407", "name": "carotid artery disease", "description": "" }, "synonyms": [ { "id": "DOID:3407", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3407", "name": "disorder of carotid artery", "description": "" } ], "evidence": [ { "id": "3407", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3407" } ] }, { "disease_id": "DOID:3770", "recommended_name": { "id": "DOID:3770", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3770", "name": "pulmonary fibrosis", "description": "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." }, "synonyms": [ { "id": "DOID:3770", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3770", "name": "Fibrosis of lung", "description": "" } ], "evidence": [ { "id": "3770", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ] }, { "disease_id": "DOID:418", "recommended_name": { "id": "DOID:418", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies." }, "synonyms": [ { "id": "DOID:418", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:418", "name": "Scleroderma", "description": "" }, { "id": "DOID:418", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:418", "name": "Scleroderma syndrome", "description": "" }, { "id": "DOID:418", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:418", "name": "progressive systemic sclerosis", "description": "" }, { "id": "DOID:418", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:418", "name": "systemic sclerosis", "description": "" }, { "id": "MONDO:0008418", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008418", "name": "scleroderma, familial progressive", "description": "" }, { "id": "MONDO:0008418", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008418", "name": "scleroderma, familial progressive", "description": "" }, { "id": "MONDO:0008418", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008418", "name": "Crest syndrome", "description": "" }, { "id": "MONDO:0008418", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008418", "name": "systemic sclerosis, susceptibility to", "description": "" } ], "evidence": [ { "id": "418", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:418" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix uteri cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "evidence": [ { "id": "4362", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:4450", "recommended_name": { "id": "DOID:4450", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney." }, "synonyms": [ { "id": "DOID:4450", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4450", "name": "RCC", "description": "" }, { "id": "DOID:4450", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4450", "name": "adenocarcinoma of kidney", "description": "" }, { "id": "DOID:4450", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4450", "name": "hypernephroma", "description": "" }, { "id": "MONDO:0010456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010456", "name": "renal cell carcinoma, Xp11-associated", "description": "" }, { "id": "MONDO:0010456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010456", "name": "renal cell carcinoma, Xp11-associated", "description": "" }, { "id": "MONDO:0010456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010456", "name": "renal cell carcinoma, papillary, 1", "description": "" }, { "id": "MONDO:0010456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010456", "name": "RCCX1", "description": "" } ], "evidence": [ { "id": "4450", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ] }, { "disease_id": "DOID:4914", "recommended_name": { "id": "DOID:4914", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin." }, "synonyms": [ { "id": "DOID:4914", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4914", "name": "Oesophageal adenocarcinoma", "description": "" } ], "evidence": [ { "id": "4914", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ] }, { "disease_id": "DOID:4959", "recommended_name": { "id": "DOID:4959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4959", "name": "epidermolysis bullosa dystrophica", "description": "An epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, especially in the hands, feet, knees, and elbows, and has_material_basis_in mutation in COL7A1 gene, which encodes a protein that assists assembly of type VII collagen." }, "synonyms": [ { "id": "DOID:4959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4959", "name": "Dystrophic epidermolysis bullosa", "description": "" } ], "evidence": [ { "id": "4959", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4959" } ] }, { "disease_id": "DOID:5082", "recommended_name": { "id": "DOID:5082", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5082", "name": "liver cirrhosis", "description": "" }, "synonyms": [ { "id": "DOID:5082", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5082", "name": "Cirrhosis", "description": "" }, { "id": "DOID:5082", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5082", "name": "cirrhosis of liver", "description": "" }, { "id": "MONDO:0005155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005155", "name": "cirrhosis of liver", "description": "A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholism, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy." }, { "id": "MONDO:0005155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005155", "name": "cirrhosis", "description": "" }, { "id": "MONDO:0005155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005155", "name": "cirrhosis of liver", "description": "" }, { "id": "MONDO:0005155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005155", "name": "liver cirrhosis", "description": "" } ], "evidence": [ { "id": "5082", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ] }, { "disease_id": "DOID:5517", "recommended_name": { "id": "DOID:5517", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5517", "name": "stomach carcinoma", "description": "A stomach cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:5517", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5517", "name": "cancer of the stomach", "description": "" }, { "id": "DOID:5517", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5517", "name": "carcinoma of stomach", "description": "" }, { "id": "DOID:5517", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5517", "name": "gastric carcinoma", "description": "" } ], "evidence": [ { "id": "5517", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5517" } ] }, { "disease_id": "DOID:5844", "recommended_name": { "id": "DOID:5844", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia." }, "synonyms": [ { "id": "DOID:5844", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5844", "name": "Myocardial infarct", "description": "" }, { "id": "DOID:5844", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5844", "name": "heart attack", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "myocardial infarction, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "myocardial infarction, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "myocardial infarction, susceptibility to, type 2", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "Mci2", "description": "" } ], "evidence": [ { "id": "5844", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ] }, { "disease_id": "DOID:6000", "recommended_name": { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body." }, "synonyms": [ { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "CHF", "description": "" }, { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "Cardiac Failure Congestive", "description": "" }, { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "Congestive heart disease", "description": "" }, { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "Weak heart", "description": "" } ], "evidence": [ { "id": "6000", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ] }, { "disease_id": "DOID:6432", "recommended_name": { "id": "DOID:6432", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries." }, "synonyms": [], "evidence": [ { "id": "6432", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ] }, { "disease_id": "DOID:7148", "recommended_name": { "id": "DOID:7148", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint." }, "synonyms": [ { "id": "DOID:7148", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7148", "name": "Arthritis or polyarthritis, rheumatic", "description": "" }, { "id": "DOID:7148", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7148", "name": "atrophic Arthritis", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "rheumatoid arthritis", "description": "A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor." }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "atrophic arthritis", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "RA", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "arthritis or polyarthritis, rheumatic", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "arthritis, rheumatoid", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "autoimmune arthritis", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "rheumatoid arthritis", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "rheumatoid arthritis, progression of", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "rheumatoid arthritis, susceptibility to", "description": "" }, { "id": "MIM:180300", "resource": "MIM", "url": "https://www.omim.org/entry/180300", "name": "Rheumatoid arthritis", "description": "Rheumatoid arthritis" } ], "evidence": [ { "id": "7148", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ] }, { "disease_id": "DOID:7693", "recommended_name": { "id": "DOID:7693", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta." }, "synonyms": [ { "id": "DOID:7693", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7693", "name": "AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1", "description": "" }, { "id": "MONDO:0012343", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012343", "name": "aortic aneurysm, familial abdominal, 2", "description": "" }, { "id": "MONDO:0012343", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012343", "name": "AAA2", "description": "" }, { "id": "MONDO:0012343", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012343", "name": "aortic aneurysm, familial abdominal 2", "description": "" }, { "id": "MONDO:0012343", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012343", "name": "aortic aneurysm, familial abdominal, 2", "description": "" }, { "id": "MONDO:0024521", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024521", "name": "aortic aneurysm, familial abdominal, 1", "description": "" }, { "id": "MONDO:0024521", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024521", "name": "AAA1", "description": "" }, { "id": "MONDO:0024521", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024521", "name": "aortic aneurysm, familial abdominal 1", "description": "" }, { "id": "MONDO:0024521", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024521", "name": "aortic aneurysm, familial abdominal, 1", "description": "" }, { "id": "MONDO:0024521", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024521", "name": "abdominal aortic aneurysm", "description": "" }, { "id": "MONDO:0024521", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024521", "name": "aneurysm, abdominal aortic", "description": "" }, { "id": "MONDO:0013716", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013716", "name": "aortic aneurysm, familial abdominal, 4", "description": "" }, { "id": "MONDO:0013716", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013716", "name": "AAA4", "description": "" }, { "id": "MONDO:0013716", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013716", "name": "aortic aneurysm, familial abdominal, 4", "description": "" }, { "id": "MONDO:0012751", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012751", "name": "aortic aneurysm, familial abdominal, 3", "description": "" }, { "id": "MONDO:0012751", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012751", "name": "AAA3", "description": "" }, { "id": "MONDO:0012751", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012751", "name": "aneurysm, familial abdominal 3", "description": "" }, { "id": "MONDO:0012751", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012751", "name": "aortic aneurysm, familial abdominal, 3", "description": "" } ], "evidence": [ { "id": "7693", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ] }, { "disease_id": "DOID:783", "recommended_name": { "id": "DOID:783", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease." }, "synonyms": [ { "id": "DOID:783", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:783", "name": "end stage renal failure", "description": "" }, { "id": "DOID:783", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:783", "name": "end-stage kidney disease", "description": "" } ], "evidence": [ { "id": "783", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:783" } ] }, { "disease_id": "DOID:799", "recommended_name": { "id": "DOID:799", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:799", "name": "varicose veins", "description": "A vein disease that is characterized by swollen, twisted veins visible just under the surface of the skin." }, "synonyms": [ { "id": "DOID:799", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:799", "name": "Varix", "description": "" }, { "id": "DOID:799", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:799", "name": "Venous ectasia", "description": "" }, { "id": "DOID:799", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:799", "name": "Venous varices", "description": "" }, { "id": "DOID:799", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:799", "name": "varices", "description": "" }, { "id": "MONDO:0008638", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008638", "name": "varicose disease", "description": "A vascular disease characterized by the presence of enlarged and tortuous veins." }, { "id": "MONDO:0008638", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008638", "name": "Venous ectasia", "description": "" }, { "id": "MONDO:0008638", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008638", "name": "Venous varices", "description": "" }, { "id": "MONDO:0008638", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008638", "name": "varix", "description": "" }, { "id": "MONDO:0008638", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008638", "name": "varices", "description": "" }, { "id": "MONDO:0008638", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008638", "name": "varicose veins", "description": "" } ], "evidence": [ { "id": "799", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:799" } ] }, { "disease_id": "DOID:824", "recommended_name": { "id": "DOID:824", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:824", "name": "periodontitis", "description": "" }, "synonyms": [ { "id": "DOID:824", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:824", "name": "chronic pericementitis", "description": "" } ], "evidence": [ { "id": "824", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:824" } ] }, { "disease_id": "DOID:8398", "recommended_name": { "id": "DOID:8398", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint." }, "synonyms": [ { "id": "DOID:8398", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8398", "name": "Osteoarthrosis and allied disorder", "description": "" }, { "id": "DOID:8398", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8398", "name": "degenerative arthritis", "description": "" }, { "id": "DOID:8398", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8398", "name": "degenerative joint disease", "description": "" }, { "id": "DOID:8398", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8398", "name": "hypertrophic arthritis", "description": "" }, { "id": "DOID:8398", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8398", "name": "osteoarthrosis", "description": "" } ], "evidence": [ { "id": "8398", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ] }, { "disease_id": "DOID:8472", "recommended_name": { "id": "DOID:8472", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8472", "name": "localized scleroderma", "description": "" }, "synonyms": [ { "id": "DOID:8472", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8472", "name": "Morphea", "description": "" }, { "id": "DOID:8472", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8472", "name": "Scleroderma, circumscribed or localised", "description": "" }, { "id": "DOID:8472", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8472", "name": "Scleroderma, circumscribed or localized", "description": "" }, { "id": "DOID:8472", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8472", "name": "circumscribed scleroderma", "description": "" }, { "id": "DOID:8472", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8472", "name": "localised morphea", "description": "" }, { "id": "DOID:8472", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8472", "name": "localised morphoea", "description": "" }, { "id": "DOID:8472", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8472", "name": "localised scleroderma", "description": "" }, { "id": "DOID:8472", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8472", "name": "localized morphea", "description": "" } ], "evidence": [ { "id": "8472", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8472" } ] }, { "disease_id": "DOID:8577", "recommended_name": { "id": "DOID:8577", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores." }, "synonyms": [ { "id": "DOID:8577", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8577", "name": "Left-sided ulcerative colitis", "description": "" } ], "evidence": [ { "id": "8577", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ] }, { "disease_id": "DOID:8805", "recommended_name": { "id": "DOID:8805", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8805", "name": "intermediate coronary syndrome", "description": "" }, "synonyms": [ { "id": "DOID:8805", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8805", "name": "Angina at rest", "description": "" }, { "id": "DOID:8805", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8805", "name": "Anginal chest pain at rest", "description": "" }, { "id": "DOID:8805", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8805", "name": "Impending infarction", "description": "" }, { "id": "DOID:8805", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8805", "name": "Preinfarction angina", "description": "" }, { "id": "DOID:8805", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8805", "name": "Unstable angina", "description": "" }, { "id": "DOID:8805", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8805", "name": "Worsening angina", "description": "" } ], "evidence": [ { "id": "8805", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8805" } ] }, { "disease_id": "DOID:8923", "recommended_name": { "id": "DOID:8923", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8923", "name": "skin melanoma", "description": "A skin cancer that has_material_basis_in melanocytes." }, "synonyms": [ { "id": "DOID:8923", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8923", "name": "cutaneous melanoma", "description": "" }, { "id": "DOID:8923", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8923", "name": "malignant ear melanoma", "description": "" }, { "id": "DOID:8923", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8923", "name": "malignant lip melanoma", "description": "" }, { "id": "DOID:8923", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8923", "name": "malignant lower limb melanoma", "description": "" }, { "id": "DOID:8923", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8923", "name": "malignant melanoma of skin of lower limb", "description": "" }, { "id": "DOID:8923", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8923", "name": "malignant melanoma of skin of trunk except scrotum", "description": "" }, { "id": "DOID:8923", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8923", "name": "malignant melanoma of skin of upper limb", "description": "" }, { "id": "DOID:8923", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8923", "name": "malignant neck melanoma", "description": "" }, { "id": "DOID:8923", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8923", "name": "malignant scalp melanoma", "description": "" }, { "id": "DOID:8923", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8923", "name": "malignant trunk melanoma", "description": "" }, { "id": "DOID:8923", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8923", "name": "malignant upper limb melanoma", "description": "" }, { "id": "DOID:8923", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8923", "name": "malignant melanoma of ear and/or external auricular canal", "description": "" }, { "id": "MONDO:0011954", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011954", "name": "melanoma, cutaneous malignant, susceptibility to, 4", "description": "" }, { "id": "MONDO:0011954", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011954", "name": "CMM4", "description": "" }, { "id": "MONDO:0011954", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011954", "name": "melanoma, cutaneous malignant, 4", "description": "" }, { "id": "MONDO:0011954", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011954", "name": "melanoma, cutaneous malignant, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012842", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012842", "name": "melanoma, cutaneous malignant, susceptibility to, 7", "description": "" }, { "id": "MONDO:0012842", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012842", "name": "CMM7", "description": "" }, { "id": "MONDO:0012842", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012842", "name": "melanoma, cutaneous malignant, 7", "description": "" }, { "id": "MONDO:0012842", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012842", "name": "melanoma, cutaneous malignant, susceptibility to, 7", "description": "" } ], "evidence": [ { "id": "8923", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8923" } ] }, { "disease_id": "DOID:898", "recommended_name": { "id": "DOID:898", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:898", "name": "autosomal dominant polycystic kidney disease", "description": "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 dominant fashion." }, "synonyms": [ { "id": "DOID:898", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:898", "name": "Congenital biliary ectasias", "description": "" }, { "id": "DOID:898", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:898", "name": "POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1", "description": "" } ], "evidence": [ { "id": "898", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:898" } ] }, { "disease_id": "DOID:90", "recommended_name": { "id": "DOID:90", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:90", "name": "degenerative disc disease", "description": "A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc." }, "synonyms": [ { "id": "DOID:90", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:90", "name": "cervical disc degenerative disease", "description": "" }, { "id": "DOID:90", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:90", "name": "intervertebral disc degeneration", "description": "" }, { "id": "DOID:90", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:90", "name": "lumbar disc degeneration", "description": "" }, { "id": "DOID:90", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:90", "name": "vertebral disc disease", "description": "" }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "intervertebral disk degenerative disorder", "description": "Any disease of a degenerative nature that affects the intervertebral disk." }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "IDD", "description": "" }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "degenerative disc disease", "description": "" }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "degenerative disk disease", "description": "" }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "degenerative disorder of intervertebral disc", "description": "" }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "degenerative disorder of intervertebral disk", "description": "" }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "intervertebral Disc Degeneration", "description": "" }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "intervertebral Disc degenerative disease", "description": "" }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "intervertebral Disc degenerative disorder", "description": "" }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "intervertebral disc degeneration", "description": "" }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "intervertebral disc disease", "description": "" }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "intervertebral disk degeneration", "description": "" }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "intervertebral disk degenerative disorder", "description": "" }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "intervertebral disk disease", "description": "" }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "vertebral Disc degenerative disease", "description": "" }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "vertebral Disc degenerative disorder", "description": "" }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "vertebral disc disease", "description": "" }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "vertebral disk disease", "description": "" }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "cervical disc degenerative disease", "description": "" }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "cervical disk degenerative disease", "description": "" }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "lumbar disc degeneration", "description": "" }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "lumbar disk degeneration", "description": "" }, { "id": "MIM:603932", "resource": "MIM", "url": "https://www.omim.org/entry/603932", "name": "Intervertebral disc disease", "description": "Intervertebral disc disease" } ], "evidence": [ { "id": "90", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:90" } ] }, { "disease_id": "DOID:9008", "recommended_name": { "id": "DOID:9008", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9008", "name": "psoriatic arthritis", "description": "An arthritis that is characterized by joint inflammation that usually occurs in combination with psoriasis." }, "synonyms": [ { "id": "DOID:9008", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9008", "name": "arthritis psoriatica", "description": "" }, { "id": "DOID:9008", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9008", "name": "arthropathic psoriasis", "description": "" }, { "id": "MONDO:0011849", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011849", "name": "psoriatic arthritis", "description": "Joint inflammation associated with psoriasis." }, { "id": "MONDO:0011849", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011849", "name": "arthritis psoriatica", "description": "" }, { "id": "MONDO:0011849", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011849", "name": "arthropathic psoriasis", "description": "" }, { "id": "MONDO:0011849", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011849", "name": "psoriatic arthritis, susceptibility to", "description": "" }, { "id": "MONDO:0011849", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011849", "name": "psoriatic arthritis, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011849", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011849", "name": "psoriatic arthropathy", "description": "" }, { "id": "MONDO:0011849", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011849", "name": "susceptibility to psoriatic arthritis", "description": "" }, { "id": "MONDO:0100232", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100232", "name": "psoriatic arthritis, susceptibility to", "description": "An inherited susceptibility or predisposition to developing psoriatic arthritis." }, { "id": "MONDO:0100232", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100232", "name": "psoriatic arthritis, susceptibility", "description": "" }, { "id": "MONDO:0100232", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100232", "name": "psoriatic arthritis, susceptibility to", "description": "" }, { "id": "MIM:607507", "resource": "MIM", "url": "https://www.omim.org/entry/607507", "name": "Psoriatic arthritis", "description": "Psoriatic arthritis" }, { "id": "MIM:607507", "resource": "MIM", "url": "https://www.omim.org/entry/607507", "name": "Psoriatic arthritis", "description": "Psoriatic arthritis" } ], "evidence": [ { "id": "9008", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9008" } ] }, { "disease_id": "DOID:9074", "recommended_name": { "id": "DOID:9074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart." }, "synonyms": [ { "id": "DOID:9074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9074", "name": "Lupus Erythematosus, systemic", "description": "" }, { "id": "DOID:9074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9074", "name": "SLE - Lupus Erythematosus, systemic", "description": "" }, { "id": "DOID:9074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9074", "name": "disseminated lupus erythematosus", "description": "" }, { "id": "MONDO:0012361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012361", "name": "systemic lupus erythematosus, susceptibility to, 5", "description": "" }, { "id": "MONDO:0012361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012361", "name": "SLEB5", "description": "" }, { "id": "MONDO:0012361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012361", "name": "systemic lupus erythematosus, susceptibility to, 5", "description": "" }, { "id": "MONDO:0012404", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012404", "name": "systemic lupus erythematosus, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012404", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012404", "name": "SLEB8", "description": "" }, { "id": "MONDO:0012404", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012404", "name": "systemic lupus erythematosus, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012403", "name": "systemic lupus erythematosus, susceptibility to, 7", "description": "" }, { "id": "MONDO:0012403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012403", "name": "SLEB7", "description": "" }, { "id": "MONDO:0012403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012403", "name": "systemic lupus erythematosus, susceptibility to, 7", "description": "" }, { "id": "MONDO:0012836", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012836", "name": "systemic lupus erythematosus, susceptibility to, 12", "description": "" }, { "id": "MONDO:0012836", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012836", "name": "SLEB12", "description": "" }, { "id": "MONDO:0012836", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012836", "name": "systemic lupus erythematosus, susceptibility to, 12", "description": "" }, { "id": "MONDO:0013152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013152", "name": "systemic lupus erythematosus, susceptibility to, 14", "description": "" }, { "id": "MONDO:0013152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013152", "name": "SLEB14", "description": "" }, { "id": "MONDO:0013152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013152", "name": "systemic lupus erythematosus, susceptibility to, 14", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus", "description": "An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific." }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "SLE", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "SLE - lupus erythematosus, systemic", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "disseminated lupus erythematosus", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "lupus erythematosus, systemic", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus (disease)", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus susceptibility to", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus, susceptibility to", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "excess LMW-DNA", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "excess lymphocyte low molecular weight DNA", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "lupus nephritis, susceptibility to", "description": "" }, { "id": "MONDO:0010433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010433", "name": "systemic lupus erythematosus, susceptibility to, 15", "description": "" }, { "id": "MONDO:0010433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010433", "name": "SLEB15", "description": "" }, { "id": "MONDO:0010433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010433", "name": "systemic lupus erythematosus, susceptibility to, 15", "description": "" }, { "id": "MONDO:0012036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012036", "name": "systemic lupus erythematosus, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012036", "name": "SLEB4", "description": "" }, { "id": "MONDO:0012036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012036", "name": "systemic lupus erythematosus, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012369", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012369", "name": "systemic lupus erythematosus, susceptibility to, 6", "description": "" }, { "id": "MONDO:0012369", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012369", "name": "SLEB6", "description": "" }, { "id": "MONDO:0012369", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012369", "name": "systemic lupus erythematosus, susceptibility to, 6", "description": "" }, { "id": "MONDO:0012884", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012884", "name": "systemic lupus erythematosus, susceptibility to, 13", "description": "" }, { "id": "MONDO:0012884", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012884", "name": "SLEB13", "description": "" }, { "id": "MONDO:0012884", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012884", "name": "systemic lupus erythematosus, susceptibility to, 13", "description": "" }, { "id": "MONDO:0011560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011560", "name": "systemic lupus erythematosus, susceptibility to, 3", "description": "" }, { "id": "MONDO:0011560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011560", "name": "SLEB3", "description": "" }, { "id": "MONDO:0011560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011560", "name": "systemic lupus erythematosus, susceptibility to, 3", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "autosomal systemic lupus erythematosus type 16", "description": "An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3." }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "autosomal SLE", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "familial SLE", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "familial systemic lupus erythematosus", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "SLEB16", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "systemic lupus erythematosus 16", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "systemic lupus erythematosus type 16", "description": "" }, { "id": "MIM:152700", "resource": "MIM", "url": "https://www.omim.org/entry/152700", "name": "Systemic lupus erythematosus", "description": "Systemic lupus erythematosus" }, { "id": "MIM:609939", "resource": "MIM", "url": "https://www.omim.org/entry/609939", "name": "Systemic lupus erythematosus 6", "description": "Systemic lupus erythematosus 6" }, { "id": "MIM:614420", "resource": "MIM", "url": "https://www.omim.org/entry/614420", "name": "Systemic lupus erythematosus 16", "description": "Systemic lupus erythematosus 16" } ], "evidence": [ { "id": "9074", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ] }, { "disease_id": "DOID:9206", "recommended_name": { "id": "DOID:9206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9206", "name": "Barrett's esophagus", "description": "An esophageal disease characterized by a change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium." }, "synonyms": [ { "id": "DOID:9206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9206", "name": "Barrett esophagus", "description": "" }, { "id": "DOID:9206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9206", "name": "Barrett's esophagus with esophagitis", "description": "" }, { "id": "DOID:9206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9206", "name": "Barrett's oesophagus", "description": "" }, { "id": "DOID:9206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9206", "name": "Barrett's ulcer of esophagus", "description": "" }, { "id": "DOID:9206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9206", "name": "Barretts syndrome", "description": "" }, { "id": "DOID:9206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9206", "name": "ulcerative esophagitis", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett esophagus", "description": "Esophageal lesion lined with columnar metaplastic epithelium which is flat or villiform. Barrett epithelium is characterized by two different types of cells: goblet cells and columnar cells. The symptomatology of Barrett esophagus is that of gastro-esophageal reflux. It is the precursor of most esophageal adenocarcinomas. (WHO)" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "BE", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett esophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett esophagus/esophageal adenocarcinoma", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett's esophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett's esophagus with esophagitis", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett's oesophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett's oesophagus with esophagitis", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett's ulcer of esophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett's ulcer of oesophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barretts syndrome", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "CLE", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "cello", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "columnar epithelial-lined Lower esophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "columnar epithelial-lined Lower oesophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "columnar-lined esophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "columnar-lined oesophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "ulcerative esophagitis", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett metaplasia", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "adenocarcinoma of esophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "adenocarcinoma of oesophagus", "description": "" }, { "id": "MIM:614266", "resource": "MIM", "url": "https://www.omim.org/entry/614266", "name": "Barrett esophagus", "description": "Barrett esophagus" } ], "evidence": [ { "id": "9206", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9206" } ] }, { "disease_id": "DOID:9282", "recommended_name": { "id": "DOID:9282", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9282", "name": "ocular hypertension", "description": "An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss." }, "synonyms": [], "evidence": [ { "id": "9282", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9282" } ] }, { "disease_id": "DOID:9352", "recommended_name": { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin." }, "synonyms": [ { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "NIDDM", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "non-insulin-dependent diabetes mellitus", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "type 2 diabetes", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "type II diabetes mellitus", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "insulin resistance", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, 4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, 4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, type 4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "Niddm4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "noninsulin-dependent diabetes mellitus 4", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus", "description": "A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity." }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "NIDDM", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "T2DM - type 2 diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "adult onset diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "adult-onset diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitis type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitis type II", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, association with", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, late onset", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type II", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes, type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "insulin resistance, severe, digenic", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "non-insulin dependent diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "non-insulin dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "non-insulin-dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "noninsulin dependent diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "noninsulin-dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus non-insulin dependent", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type II diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type II diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, non-insulin-dependent, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type 2, protection against", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type 2, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type II, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "hypertension, insulin resistance-related, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "insulin resistance, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "maturity-onset diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus, susceptibility to", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, type 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "NIDDM1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "noninsulin-dependent diabetes mellitus 1", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "diabetes mellitus, noninsulin-dependent, 2", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "NIDDM2", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "diabetes mellitus, noninsulin-dependent, 2", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "noninsulin-dependent diabetes mellitus 2", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "diabetes mellitus, noninsulin-dependent, 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "diabetes mellitus, noninsulin-dependent, 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "diabetes mellitus, noninsulin-dependent, type 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "type 2 diabetes mellitus 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "NIDDM3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "noninsulin-dependent diabetes mellitus 3", "description": "" }, { "id": "MIM:125853", "resource": "MIM", "url": "https://www.omim.org/entry/125853", "name": "Type 2 diabetes mellitus", "description": "Type 2 diabetes mellitus" }, { "id": "MIM:601283", "resource": "MIM", "url": "https://www.omim.org/entry/601283", "name": "Type 2 diabetes mellitus 1", "description": "Type 2 diabetes mellitus 1" } ], "evidence": [ { "id": "9352", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ] }, { "disease_id": "DOID:9675", "recommended_name": { "id": "DOID:9675", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9675", "name": "pulmonary emphysema", "description": "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls." }, "synonyms": [ { "id": "MONDO:0007535", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007535", "name": "emphysema, hereditary pulmonary", "description": "" }, { "id": "MONDO:0007535", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007535", "name": "emphysema, hereditary 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"UniProtKB", "categories": [ "Protein" ] }, { "id": "P81563-1", "url": "https://www.uniprot.org/uniprot/P81563-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "DTLKSEKNADFKDLY", "length": 15, "header": "sp|P81563-1|MMP1_RAT Isoform 1 of Interstitial collagenase OS=Rattus norvegicus OX=10116 GN=Mmp1 PE=1 SV=1 CANONICAL=P81563-1" }, "isoforms": [ { "isoform_ac": "B5DFD5-1", "url": "", "sequence": { "sequence": "MLSLPLLLLLLATSSYSFPVFQDGARQNVETVWKYLENYYNLGEDVQAKNVDAKEVMAEKLRQMQQLFGLKVTGNSNSETLSAMRKPRCGVPDVAPYAITHNNPRWTKTHLTYSILNYTPYLPKEVIENAIERAFKVWSDVTPLTFERVFEEEGDIVFAFYRGDHSDNNPFDGPEYGLAHTFPPGPRLGGDVHYDLDETWTDNSDNFNLFYVTAHELGHSLGLTHSRDVGALMFPSYTWYTEDFVLNQEDINRIQALYGPSPNPIQPTGATTPHPCDGDLTFDAITTFRGEVMFFKGRFYIRVNKFMPEAELNLIGIIWPNLPGKLDAAYEVSMIDQVRYFKGNKVWVVREHTVLRGFPTDIHSFFGFPSSVTHIDAAVCEEETGKTYFFVDNMYWRYDENTQSMDPGYPRLTAEDFPGIDDKVDDVFQKGENFYFFHQSVQRRFSLRIRRVDDSRDSSTWFNC", "length": 464, "header": "tr|B5DFD5-1|MMP1_RAT Computationally mapped isoform of 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"American journal of physiology. 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J. Cardiol.", "date": "1996", "authors": "Tyagi SC, Cleutjens JP", "evidence": [ { "database": "UniProtKB", "id": "P81563", "url": "https://www.uniprot.org/uniprot/P81563" } ], "reference": [ { "type": "PubMed", "id": "8605638", "url": "https://glygen.org/publication/PubMed/8605638" } ] } ], "pathway": [ { "id": "rno:300339", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:300339", "resource": "KEGG Pathway" }, { "id": "R-RNO-1442490", "name": "Collagen degradation", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-1442490", "resource": "Reactome", "description": "Collagen degradation" }, { "id": "R-RNO-1474228", "name": "Degradation of the extracellular matrix", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-1474228", "resource": "Reactome", "description": "Degradation of the extracellular matrix" }, { "id": "R-RNO-1592389", "name": "Activation of Matrix Metalloproteinases", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-1592389", "resource": "Reactome", "description": "Activation of Matrix Metalloproteinases" }, { "id": "R-RNO-381426", "name": "Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-381426", "resource": "Reactome", "description": "Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)" } ], "orthologs": [ { "uniprot_canonical_ac": "P03956-1", "protein_name": "Interstitial collagenase", "gene_name": "MMP1", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": 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