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"CG34355-PB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001097889", "id": "NP_001097889" }, { "name": "CG34355-PE", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001247269", "id": "NP_001247269" }, { "name": "CG34355-PG", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303544", "id": "NP_001303544" }, { "name": "Uncharacterized protein, isoform E", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A0A0B4K709" }, { "name": "uncharacterized protein, isoform B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001097889", "id": "NP_001097889" }, { "name": "uncharacterized protein, isoform E", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001247269", "id": "NP_001247269" }, { "name": "uncharacterized protein, isoform G", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303544", "id": "NP_001303544" } ], "function": [], "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 interstitial pneumonia", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "Hamman-rich disease", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "familial idiopathic pulmonary fibrosis", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "fibrosing alveolitis", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "pulmonary fibrosis, idiopathic", "description": "" }, { "id": "MIM:178500", "resource": "MIM", "url": "https://www.omim.org/entry/178500", "name": "Interstitial lung disease 2", "description": "Interstitial lung disease 2" } ], "evidence": [ { "id": "0050156", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050156" } ] }, { "disease_id": "DOID:0080301", "recommended_name": { "id": "DOID:0080301", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080301", "name": "atypical hemolytic-uremic syndrome", "description": "A complement deficiency that is characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction." }, "synonyms": [], "evidence": [ { "id": "0080301", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080301" } ] }, { "disease_id": "DOID:0111908", "recommended_name": { "id": "DOID:0111908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111908", "name": "thrombophilia due to thrombomodulin defect", "description": "A thrombophilia characterized by increased risk of developing arterial but not venous thrombosis that has_material_basis_in mutation in the THBD gene on chromosome 20p11.21." }, "synonyms": [ { "id": "DOID:0111908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111908", "name": "THPH12", "description": "" }, { "id": "DOID:0111908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111908", "name": "THBD-related bleeding disorder", "description": "" }, { "id": "DOID:0111908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111908", "name": "THBD-related coagulopathy", "description": "" }, { "id": "DOID:0111908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111908", "name": "thrombomodulin-related bleeding disorder", "description": "" }, { "id": "DOID:0111908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111908", "name": "thrombomodulin-related coagulopathy", "description": "" }, { "id": "MONDO:0013775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013775", "name": "thrombomodulin-related bleeding disorder", "description": "" }, { "id": "MONDO:0013775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013775", "name": "THBD-related bleeding disorder", "description": "" }, { "id": "MONDO:0013775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013775", "name": "THBD-related coagulopathy", "description": "" }, { "id": "MONDO:0013775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013775", "name": "thrombomodulin-related coagulopathy", "description": "" }, { "id": "MONDO:0013775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013775", "name": "thrombophilia 12 due to thrombomodulin defect", "description": "" }, { "id": "MONDO:0013775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013775", "name": "THPH12", "description": "" }, { "id": "MONDO:0013775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013775", "name": "thrombophilia due to thrombomodulin defect", "description": "" }, { "id": "MIM:614486", "resource": "MIM", "url": "https://www.omim.org/entry/614486", "name": "Thrombophilia due to thrombomodulin defect", "description": "Thrombophilia due to thrombomodulin defect" } ], "evidence": [ { "id": "0111908", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111908" } ] }, { "disease_id": "DOID:0112313", "recommended_name": { "id": "DOID:0112313", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112313", "name": "brain small vessel disease", "description": "A brain disease characterized by abnormalities in the small blood vessels in the brain." }, "synonyms": [ { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "brain small vessel disease 1 with or without ocular anomalies", "description": "Any porencephaly in which the cause of the disease is a mutation in the COL4A1 gene." }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "ADT1P", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "BSVD", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "BSVD1", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "COL4A1 porencephaly", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "COL4A1-related brain small vessel disease with haemorrhage", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "COL4A1-related brain small vessel disease with hemorrhage", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "COL4A1-related familial vascular leukoencephalopathy", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "T1P", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "brain small vessel disease with Axenfeld-Riegar anomaly", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "brain small vessel disease with axenfeld-rieger anomaly", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "brain small vessel disease with haemorrhage", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "brain small vessel disease with hemorrhage", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "brain small vessel disease with or without ocular anomalies", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "hemiplegia, infantile, with porencephaly", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "infantile hemiparesis", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "leukoencephalopathy with axenfeld-rieger anomaly", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "porencephaly 1", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "porencephaly caused by mutation in COL4A1", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "porencephaly type 1", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "POREN1", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "hemiplegia, infantile, with porencephaly porencephaly, type 1", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "porencephaly, type 1, autosomal dominant", "description": "" }, { "id": "MIM:175780", "resource": "MIM", "url": "https://www.omim.org/entry/175780", "name": "Brain small vessel disease 1 with or without ocular anomalies", "description": "Brain small vessel disease 1 with or without ocular anomalies" } ], "evidence": [ { "id": "0112313", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0112313" } ] }, { "disease_id": "DOID:10223", "recommended_name": { "id": "DOID:10223", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10223", "name": "dermatomyositis", "description": "A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction." }, "synonyms": [ { "id": "DOID:10223", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10223", "name": "Polymyositis with skin involvement", "description": "" }, { "id": "DOID:10223", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10223", "name": "dermatopolymyositis", "description": "" } ], "evidence": [ { "id": "10223", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10223" } ] }, { "disease_id": "DOID:10652", "recommended_name": { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid." }, "synonyms": [ { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimer disease", "description": "" }, { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimers dementia", "description": "" } ], "evidence": [ { "id": "10652", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ] }, { "disease_id": "DOID:10763", "recommended_name": { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries." }, "synonyms": [ { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "HTN", "description": "" }, { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "hyperpiesia", "description": "" }, { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "vascular hypertensive disorder", "description": "" } ], "evidence": [ { "id": "10763", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ] }, { "disease_id": "DOID:11247", "recommended_name": { "id": "DOID:11247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11247", "name": "disseminated intravascular coagulation", "description": "" }, "synonyms": [ { "id": "DOID:11247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11247", "name": "DIC", "description": "" }, { "id": "DOID:11247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11247", "name": "Defibrination syndrome", "description": "" }, { "id": "DOID:11247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11247", "name": "Diffuse or disseminated intravascular coagulation", "description": "" } ], "evidence": [ { "id": "11247", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11247" } ] }, { "disease_id": "DOID:11394", "recommended_name": { "id": "DOID:11394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11394", "name": "adult respiratory distress syndrome", "description": "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia." }, "synonyms": [ { "id": "DOID:11394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11394", "name": "ARDS", "description": "" }, { "id": "DOID:11394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11394", "name": "Non-cardiogenic pulmonary edema", "description": "" }, { "id": "DOID:11394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11394", "name": "Shock lung", "description": "" }, { "id": "DOID:11394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11394", "name": "adult RDS", "description": "" }, { "id": "DOID:11394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11394", "name": "acute respiratory distress syndrome", "description": "" } ], "evidence": [ { "id": "11394", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11394" } ] }, { "disease_id": "DOID:12132", "recommended_name": { "id": "DOID:12132", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12132", "name": "granulomatosis with polyangiitis", "description": "An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels." }, "synonyms": [ { "id": "DOID:12132", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12132", "name": "Necrotizing respiratory granulomatosis", "description": "" }, { "id": "DOID:12132", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12132", "name": "Wegener granulomatosis, formerly", "description": "" }, { "id": "MONDO:0012105", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012105", "name": "granulomatosis with polyangiitis", "description": "A small-vessel necrotizing vasculitis characterized by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis." }, { "id": "MONDO:0012105", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012105", "name": "ANCA-associated vasculitis", "description": "" }, { "id": "MONDO:0012105", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012105", "name": "Wg", "description": "" }, { "id": "MONDO:0012105", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012105", "name": "GPA", "description": "" }, { "id": "MONDO:0012105", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012105", "name": "Wegener granulomatosis", "description": "" }, { "id": "MONDO:0012105", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012105", "name": "Wegener's granulomatosis", "description": "" }, { "id": "MONDO:0012105", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012105", "name": "Wegener's syndrome", "description": "" }, { "id": "MONDO:0012105", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012105", "name": "granulomatosis - Wegener's", "description": "" }, { "id": "MONDO:0012105", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012105", "name": "granulomatosis with polyangiitis", "description": "" }, { "id": "MONDO:0012105", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012105", "name": "necrotizing respiratory granulomatosis", "description": "" }, { "id": "MONDO:0012105", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012105", "name": "pauci-immune glomerulonephritis associated with granulomatosis with polyangiitis", "description": "" }, { "id": "MONDO:0012105", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012105", "name": "Midline granulomatosis", "description": "" } ], "evidence": [ { "id": "12132", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12132" } ] }, { "disease_id": "DOID:13809", "recommended_name": { "id": "DOID:13809", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13809", "name": "familial combined hyperlipidemia", "description": "" }, "synonyms": [ { "id": "DOID:13809", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13809", "name": "familial multiple lipoprotein-type hyperlipidemia", "description": "" }, { "id": "DOID:13809", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13809", "name": "mixed hyperlipidaemia", "description": "" }, { "id": "DOID:13809", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13809", "name": "type IIb hyperlipoproteinemia", "description": "" }, { "id": "DOID:13809", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13809", "name": "hyperbetalipoproteinemia with prebetalipoproteinemia", "description": "" }, { "id": "MONDO:0007759", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007759", "name": "hyperlipidemia, familial combined, LPL related", "description": "" }, { "id": "MONDO:0007759", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007759", "name": "combined hyperlipidemia, familial", "description": "" }, { "id": "MONDO:0007759", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007759", "name": "FCHL", "description": "" }, { "id": "MONDO:0007759", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007759", "name": "familial combined hyperlipidemia", "description": "" }, { "id": "MONDO:0007759", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007759", "name": "hyperlipidemia, familial combined", "description": "" }, { "id": "MIM:144250", "resource": "MIM", "url": "https://www.omim.org/entry/144250", "name": "Hyperlipidemia, familial combined, 3", "description": "Hyperlipidemia, familial combined, 3" } ], "evidence": [ { "id": "13809", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13809" } ] }, { "disease_id": "DOID:1459", "recommended_name": { "id": "DOID:1459", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone." }, "synonyms": [ { "id": "DOID:1459", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1459", "name": "Thyroid deficiency", "description": "" }, { "id": "DOID:1459", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1459", "name": "Thyroid insufficiency", "description": "" } ], "evidence": [ { "id": "1459", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ] }, { "disease_id": "DOID:1875", "recommended_name": { "id": "DOID:1875", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1875", "name": "impotence", "description": "A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity." }, "synonyms": [ { "id": "DOID:1875", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1875", "name": "Sexual impotence", "description": "" }, { "id": "DOID:1875", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1875", "name": "erectile dysfunction", "description": "" } ], "evidence": [ { "id": "1875", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1875" } ] }, { "disease_id": "DOID:2452", "recommended_name": { "id": "DOID:2452", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2452", "name": "thrombophilia", "description": "A blood coagulation disease that is characterized by an increased tendency to form clots." }, "synonyms": [ { "id": "DOID:2452", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2452", "name": "hypercoagulability state", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombophilia due to thrombin defect", "description": "The formation of a blood clot (thrombus) in the lumen of a vein." }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "Venous thromboembolism", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "prothrombin thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "prothrombin-related thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombophilia 1 due to thrombin defect", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombophilia due to thrombin defect", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "venous thromboembolism, susceptibility to", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "venous thrombosis, protection against", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "THPH1", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "factor II-related thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "hyperprothrombinemia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "prothrombin 20210G>A thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "prothrombin G20210A thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thromboembolism, susceptibility to", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombophilia due to factor 2 defect", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombosis, protection against", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "venous thrombosis", "description": "" }, { "id": "MIM:188050", "resource": "MIM", "url": "https://www.omim.org/entry/188050", "name": "Thrombophilia due to thrombin defect", "description": "Thrombophilia due to thrombin defect" } ], "evidence": [ { "id": "2452", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2452" } ] }, { "disease_id": "DOID:2841", "recommended_name": { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing." }, "synonyms": [ { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "Exercise induced asthma", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "bronchial hyperreactivity", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "chronic obstructive asthma", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "chronic obstructive asthma with acute exacerbation", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "chronic obstructive asthma with status asthmaticus", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "exercise-induced asthma", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "inherited susceptibility to asthma", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, nocturnal, susceptibility to", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, bronchial", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, diminished response to Antileukotriene treatment 1N", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, protection against", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, susceptibility to", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma-related traits, susceptibility to", "description": "" }, { "id": "MIM:600807", "resource": "MIM", "url": "https://www.omim.org/entry/600807", "name": "Asthma", "description": "Asthma" } ], "evidence": [ { "id": "2841", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ] }, { "disease_id": "DOID:2945", "recommended_name": { "id": "DOID:2945", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2945", "name": "severe acute respiratory syndrome", "description": "A Coronavirus infection that results_in infection located_in respiratory tract, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia." }, "synonyms": [ { "id": "DOID:2945", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2945", "name": "SARS", "description": "" }, { "id": "DOID:2945", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2945", "name": "SARS-CoV infection", "description": "" }, { "id": "MONDO:0005091", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005091", "name": "severe acute respiratory syndrome", "description": "A viral respiratory infection caused by the SARS coronavirus. It is transmitted through close person-to-person contact. It is manifested with high fever, headache, dry cough and myalgias. It may progress to pneumonia and cause death." }, { "id": "MONDO:0005091", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005091", "name": "SARS", "description": "" }, { "id": "MONDO:0005091", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005091", "name": "SARS coronavirus caused disease or disorder", "description": "" }, { "id": "MONDO:0005091", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005091", "name": "SARS coronavirus disease or disorder", "description": "" }, { "id": "MONDO:0005091", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005091", "name": "SARS coronavirus infectious disease", "description": "" }, { "id": "MONDO:0005091", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005091", "name": "SARS-CoV infection", "description": "" }, { "id": "MONDO:0005091", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005091", "name": "acute respiratory coronavirus infection", "description": "" } ], "evidence": [ { "id": "2945", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ] }, { "disease_id": "DOID:2987", "recommended_name": { "id": "DOID:2987", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2987", "name": "familial Mediterranean fever", "description": "An autoimmune disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin." }, "synonyms": [ { "id": "DOID:2987", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2987", "name": "benign paroxysmal peritonitis", "description": "" }, { "id": "MONDO:0007601", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007601", "name": "familial Mediterranean fever, autosomal dominant", "description": "" }, { "id": "MONDO:0007601", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007601", "name": "familial Mediterranean fever, AD", "description": "" }, { "id": "MONDO:0007601", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007601", "name": "familial Mediterranean fever, autosomal dominant", "description": "" }, { "id": "MONDO:0007601", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007601", "name": "Fmf, autosomal dominant", "description": "" }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "autosomal recessive familial Mediterranean fever", "description": "Autosomal recessive form of familial Mediterranean fever." }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "autosomal recessive familial Mediterranean fever", "description": "" }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "familial Mediterranean fever, AR", "description": "" }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "familial Mediterranean fever, autosomal recessive", "description": "" }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "FMF", "description": "" }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "familial MEDITERRANEAN FEVER", "description": "" }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "familial Mediterranean fever", "description": "" }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "polyserositis, familial paroxysmal", "description": "" }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "polyserositis, recurrent", "description": "" }, { "id": "MIM:134610", "resource": "MIM", "url": "https://www.omim.org/entry/134610", "name": "Familial Mediterranean fever, autosomal dominant", "description": "Familial Mediterranean fever, autosomal dominant" }, { "id": "MIM:249100", "resource": "MIM", "url": "https://www.omim.org/entry/249100", "name": "Familial Mediterranean fever, autosomal recessive", "description": "Familial Mediterranean fever, autosomal recessive" } ], "evidence": [ { "id": "2987", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ] }, { "disease_id": "DOID:3021", "recommended_name": { "id": "DOID:3021", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3021", "name": "acute kidney failure", "description": "" }, "synonyms": [], "evidence": [ { "id": "3021", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ] }, { "disease_id": "DOID:326", "recommended_name": { "id": "DOID:326", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:326", "name": "ischemia", "description": "A vascular disease that is characterized by a restriction in blood supply to tissues." }, "synonyms": [], "evidence": [ { "id": "326", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:326" } ] }, { "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 disease, autosomal dominant 2", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant type 2", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant, 2", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "ADCAD2", "description": "" }, { "id": "MONDO:0012788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012788", "name": "coronary heart disease, susceptibility to, 9", "description": "" }, { "id": "MONDO:0012788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012788", "name": "CHDS9", "description": "" }, { "id": "MONDO:0012788", "resource": "MONDO", "url": "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:3410", "recommended_name": { "id": "DOID:3410", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3410", "name": "carotid artery thrombosis", "description": "" }, "synonyms": [], "evidence": [ { "id": "3410", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3410" } ] }, { "disease_id": "DOID:3526", "recommended_name": { "id": "DOID:3526", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain." }, "synonyms": [ { "id": "DOID:3526", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3526", "name": "CVA - Cerebral infarction", "description": "" }, { "id": "DOID:3526", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3526", "name": "Cerebral infarct", "description": "" }, { "id": "MONDO:0020671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020671", "name": "obsolete susceptibility to ischemic stroke", "description": "" }, { "id": "MONDO:0020671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020671", "name": "cerebral infarction, susceptibility to", "description": "" }, { "id": "MONDO:0020671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020671", "name": "ischemic stroke, susceptibility to", "description": "" }, { "id": "MONDO:0020671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020671", "name": "stroke, ischemic, susceptibility to", "description": "" }, { "id": "MONDO:0020671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020671", "name": "stroke, susceptibility to", "description": "" }, { "id": "MONDO:0020671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020671", "name": "cerebral infarction", "description": "" }, { "id": "MONDO:0020671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020671", "name": "cerebrovascular accident", "description": "" }, { "id": "MONDO:0020671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020671", "name": "stroke, ischemic", "description": "" }, { "id": "MIM:601367", "resource": "MIM", "url": "https://www.omim.org/entry/601367", "name": "Ischemic stroke", "description": "Ischemic stroke" } ], "evidence": [ { "id": "3526", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ] }, { "disease_id": "DOID:3908", "recommended_name": { "id": "DOID:3908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma." }, "synonyms": [ { "id": "DOID:3908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3908", "name": "NSCLC", "description": "" }, { "id": "DOID:3908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3908", "name": "Non-small cell lung cancer", "description": "" }, { "id": "DOID:3908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3908", "name": "non-small cell lung carcinoma", "description": "" } ], "evidence": [ { "id": "3908", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ] }, { "disease_id": "DOID:409", "recommended_name": { "id": "DOID:409", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:409", "name": "liver disease", "description": "" }, "synonyms": [ { "id": "DOID:409", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:409", "name": "disorder of liver", "description": "" }, { "id": "DOID:409", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:409", "name": "hepatic disorder", "description": "" } ], "evidence": [ { "id": "409", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:409" } ] }, { "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:676", "recommended_name": { "id": "DOID:676", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:676", "name": "juvenile rheumatoid arthritis", "description": "A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint." }, "synonyms": [ { "id": "DOID:676", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:676", "name": "Pauciarticular onset juvenile chronic arthritis", "description": "" }, { "id": "DOID:676", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:676", "name": "acute juvenile rheumatoid arthritis", "description": "" }, { "id": "DOID:676", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:676", "name": "juvenile chronic polyarthritis", "description": "" }, { "id": "DOID:676", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:676", "name": "juvenile idiopathic arthritis", "description": "" }, { "id": "DOID:676", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:676", "name": "monarticular juvenile rheumatoid arthritis", "description": "" }, { "id": "DOID:676", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:676", "name": "pauciarticular juvenile arthritis", "description": "" }, { "id": "DOID:676", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:676", "name": "systemic juvenile rheumatoid arthritis", "description": "" }, { "id": "DOID:676", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:676", "name": "Still's disease", "description": "" }, { "id": "MONDO:0011429", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011429", "name": "juvenile idiopathic arthritis", "description": "Juvenile idiopathic arthritis (JIA) is the term used to describe a group of inflammatory articular disorders of unknown cause that begin before the age of 16 and last over 6 weeks. The term juvenile idiopathic arthritis was chosen to signify the absence of any known mechanism underlying the disorder and to highlight the necessity of excluding other types of arthritis occurring in well defined diseases (in particular arthritis occurring in association with infectious, inflammatory and haematooncologic diseases)." }, { "id": "MONDO:0011429", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011429", "name": "JIA", "description": "" }, { "id": "MONDO:0011429", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011429", "name": "Juvenile idiopathic arthritis", "description": "" }, { "id": "MONDO:0011429", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011429", "name": "juvenile idiopathic arthritis", "description": "" }, { "id": "MONDO:0011429", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011429", "name": "juvenile rheumatoid arthritis", "description": "" }, { "id": "MONDO:0011429", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011429", "name": "rheumatoid arthritis, systemic juvenile, susceptibility to", "description": "" }, { "id": "MONDO:0011429", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011429", "name": "acute juvenile rheumatoid arthritis", "description": "" }, { "id": "MONDO:0011429", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011429", "name": "monarticular juvenile rheumatoid arthritis", "description": "" }, { "id": "MONDO:0011429", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011429", "name": "pauciarticular juvenile arthritis", "description": "" }, { "id": "MONDO:0011429", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011429", "name": "pauciarticular onset juvenile chronic arthritis", "description": "" }, { "id": "MONDO:0011429", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011429", "name": "systemic juvenile rheumatoid arthritis", "description": "" }, { "id": "MONDO:0011429", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011429", "name": "juvenile chronic arthritis", "description": "" }, { "id": "MONDO:0011429", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011429", "name": "juvenile chronic polyarthritis", "description": "" }, { "id": "MONDO:0011429", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011429", "name": "rheumatoid arthritis, systemic juvenile", "description": "" }, { "id": "MIM:604302", "resource": "MIM", "url": "https://www.omim.org/entry/604302", "name": "Rheumatoid arthritis systemic juvenile", "description": "Rheumatoid arthritis systemic juvenile" } ], "evidence": [ { "id": "676", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:676" } ] }, { "disease_id": "DOID:7147", "recommended_name": { "id": "DOID:7147", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7147", "name": "ankylosing spondylitis", "description": "A bone inflammation disease that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage." }, "synonyms": [ { "id": "DOID:7147", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7147", "name": "Bekhterev syndrome", "description": "" }, { "id": "DOID:7147", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7147", "name": "Bekhterev's disease", "description": "" }, { "id": "DOID:7147", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7147", "name": "Marie-Strumpell disease", "description": "" }, { "id": "MONDO:0007126", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007126", "name": "spondyloarthropathy, susceptibility to, 1", "description": "Any spondyloarthropathy, susceptibility to in which the cause of the disease is a mutation in the HLA-B gene." }, { "id": "MONDO:0007126", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007126", "name": "HLA-B spondyloarthropathy, susceptibility to", "description": "" }, { "id": "MONDO:0007126", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007126", "name": "spondyloarthropathy, susceptibility to caused by mutation in HLA-B", "description": "" }, { "id": "MONDO:0007126", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007126", "name": "spondyloarthropathy, susceptibility to, 1", "description": "" }, { "id": "MONDO:0007126", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007126", "name": "spondyloarthropathy, susceptibility to, type 1", "description": "" }, { "id": "MONDO:0007126", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007126", "name": "Bechterew syndrome", "description": "" }, { "id": "MONDO:0007126", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007126", "name": "Marie-Strumpell spondylitis", "description": "" }, { "id": "MONDO:0007126", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007126", "name": "SPDA1", "description": "" }, { "id": "MONDO:0007126", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007126", "name": "ankylosing spondylitis, susceptibility to", "description": "" }, { "id": "MONDO:0007126", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007126", "name": "susceptibility to spondyloarthropathy 1", "description": "" }, { "id": "MIM:106300", "resource": "MIM", "url": "https://www.omim.org/entry/106300", "name": "Spondyloarthropathy 1", "description": "Spondyloarthropathy 1" } ], "evidence": [ { "id": "7147", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:7147" } ] }, { "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: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: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:8778", "recommended_name": { "id": "DOID:8778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine." }, "synonyms": [ { "id": "DOID:8778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8778", "name": "Crohn disease", "description": "" }, { "id": "DOID:8778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8778", "name": "Crohn's disease of colon", "description": "" }, { "id": "DOID:8778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8778", "name": "Crohn's disease of large bowel", "description": "" }, { "id": "DOID:8778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8778", "name": "Granulomatous Colitis", "description": "" }, { "id": "DOID:8778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8778", "name": "Pediatric Crohn's disease", "description": "" } ], "evidence": [ { "id": "8778", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ] }, { "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: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:9744", "recommended_name": { "id": "DOID:9744", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production." }, "synonyms": [ { "id": "DOID:9744", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9744", "name": "IDDM", "description": "" }, { "id": "DOID:9744", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9744", "name": "insulin-dependent diabetes mellitus", "description": "" }, { "id": "DOID:9744", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9744", "name": "type I diabetes mellitus", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "type 1 diabetes mellitus", "description": "A chronic condition characterized by minimal or absent production of insulin by the pancreas." }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "IDDM", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "diabetes mellitis type 1", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "diabetes mellitis type I", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "immune mediated diabetes", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "insulin dependent diabetes", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "insulin-dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "juvenile diabetes", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "type 1 diabetes", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "type I diabetes", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "type I diabetes mellitus", "description": "" }, { "id": "MIM:222100", "resource": "MIM", "url": "https://www.omim.org/entry/222100", "name": "Type 1 diabetes mellitus", "description": "Type 1 diabetes mellitus" } ], "evidence": [ { "id": "9744", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ] }, { "disease_id": "DOID:9970", "recommended_name": { "id": "DOID:9970", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness." }, "synonyms": [ { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "inherited obesity", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "genetic obesity", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "genetic obesity (disease)", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "leanness, inherited, autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "monogenic obesity", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, association with, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, early-onset, susceptibility to, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, late-onset, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, mild, early-onset, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, severe, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, severe, and type II diabetes, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, susceptibility to, Autosomal recessive", "description": "" }, { "id": "MIM:601665", "resource": "MIM", "url": "https://www.omim.org/entry/601665", "name": "Obesity", "description": "Obesity" } ], "evidence": [ { "id": "9970", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K709", "url": "https://www.uniprot.org/uniprot/A0A0B4K709" } ], "common_name": "Fruit fly" } ], "gene": [ { "name": "CG13818", "url": "https://www.uniprot.org/uniprot/A0A0B4K709", "locus": { "chromosome": "3R", "start_pos": 23859167, "end_pos": 23803859, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "FBgn0085384", "url": "https://www.ensembl.org/id/FBgn0085384" } ] } } ], "crossref": [ { "id": "FBgn0085384", "url": "https://bgee.org/?page=gene&gene_id=FBgn0085384", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd09631", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd09631", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "FBgn0085384", "url": "https://flybase.org/reports/FBgn0085384", "database": "FlyBase", "categories": [ "Organism-specific" ] }, { "id": "42820", "url": "https://www.ncbi.nlm.nih.gov/gene/42820", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "Q9VCG8", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q9VCG8*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR005018", "url": "https://www.ebi.ac.uk/interpro/entry/IPR005018", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR019545", "url": "https://www.ebi.ac.uk/interpro/entry/IPR019545", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR045266", "url": "https://www.ebi.ac.uk/interpro/entry/IPR045266", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "dme:Dmel_CG34355", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+dme:Dmel_CG34355", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "WVGNGTE", "url": "https://omabrowser.org/oma/group/WVGNGTE/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3475624at2759", "url": "http://www.orthodb.org/?query=3475624at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR24036", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24036", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24036:SF5", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24036:SF5", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF03351", "url": "http://pfam.xfam.org/family/PF03351", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF10517", "url": "http://pfam.xfam.org/family/PF10517", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "NP_001247269", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001247269", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A0B4K709", "url": "https://www.uniprot.org/uniprot/A0A0B4K709", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0B4K709-1", "url": "https://www.uniprot.org/uniprot/A0A0B4K709-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A126GV09", "url": "https://www.uniprot.org/uniprot/A0A126GV09", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A126GV09-1", "url": "https://www.uniprot.org/uniprot/A0A126GV09-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9VCG8", "url": "https://www.uniprot.org/uniprot/Q9VCG8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9VCG8-1", "url": "https://www.uniprot.org/uniprot/Q9VCG8-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MWRKASRLVRETTSWKTRRQGQAEAPSAAVATIKPSTRTSTPIAHGLPIIITWSQLAIVAAVAVLLQCHVCQAAGRAPPEPYYGRYIGDFTNFAHGIKGQIYAVDESTLFVKSFAYDGTGPDAFFWVGKTPRPSPDGYIIPYPEEYTGMDPPILQAHNRTDIILRLPMGKRIKDIRWLSVWCRRFTVDFGEVFIPPNLDVPKPRVLPEFKRLAHGLRSSNISVLDAKTFYIPNLHYDGAGPDAYFWVGNGSEPNIMGIKVPNESGSLEPLRGYQGEDIEIQLPESLTVYDIDWLAVWCVEYRHNFGHVYIPRDLDVPPALGQTKITPSWWYSPTTTTPRPVYSNCREILPNKLQIKWELQGEYLQVELFGRITEDQYMAFGLSGANGRAQMSQSDVVVAFYDTTTRVFRAEDYFISDLSQCDGQRGACPDERIGGRNDVIVLSGDRKNGVTSIRYKRLLQPNEAIYDAPIPTDREVSVIAAIGPLNARKEANAHSHTASDHNQDDIRINFSARNDHACQSSLYDVKDESGPRPWPTRKIEGVRKFRASIGPTGGKRGYTSITGVPSWGIAWYVNDLLIPEITVERGLTYEFIIEGGNDPSQPARYHPFYITDSPEGGLGQKMGLEARKQKAYAGVEYDEDGNAIPTGGGRYCEWEHQTIDRSAEIDTFEEYMKTLVFKCEDGEPGYLNWTVPTNAPDQLYYQCFTHNNLGWKINVVDMGSSGGSKVSSHQFSFYGIFTVFSLVATSLPFFGHVLA", "length": 755, "header": "tr|A0A0B4K709-1|A0A0B4K709_DROME Isoform 1 of Uncharacterized protein, isoform E OS=Drosophila melanogaster OX=7227 GN=CG13818 PE=1 SV=1 CANONICAL=A0A0B4K709-1" }, "isoforms": [ { "isoform_ac": "A0A0B4K709-1", "url": "", "sequence": { "sequence": "MWRKASRLVRETTSWKTRRQGQAEAPSAAVATIKPSTRTSTPIAHGLPIIITWSQLAIVAAVAVLLQCHVCQAAGRAPPEPYYGRYIGDFTNFAHGIKGQIYAVDESTLFVKSFAYDGTGPDAFFWVGKTPRPSPDGYIIPYPEEYTGMDPPILQAHNRTDIILRLPMGKRIKDIRWLSVWCRRFTVDFGEVFIPPNLDVPKPRVLPEFKRLAHGLRSSNISVLDAKTFYIPNLHYDGAGPDAYFWVGNGSEPNIMGIKVPNESGSLEPLRGYQGEDIEIQLPESLTVYDIDWLAVWCVEYRHNFGHVYIPRDLDVPPALGQTKITPSWWYSPTTTTPRPVYSNCREILPNKLQIKWELQGEYLQVELFGRITEDQYMAFGLSGANGRAQMSQSDVVVAFYDTTTRVFRAEDYFISDLSQCDGQRGACPDERIGGRNDVIVLSGDRKNGVTSIRYKRLLQPNEAIYDAPIPTDREVSVIAAIGPLNARKEANAHSHTASDHNQDDIRINFSARNDHACQSSLYDVKDESGPRPWPTRKIEGVRKFRASIGPTGGKRGYTSITGVPSWGIAWYVNDLLIPEITVERGLTYEFIIEGGNDPSQPARYHPFYITDSPEGGLGQKMGLEARKQKAYAGVEYDEDGNAIPTGGGRYCEWEHQTIDRSAEIDTFEEYMKTLVFKCEDGEPGYLNWTVPTNAPDQLYYQCFTHNNLGWKINVVDMGSSGGSKVSSHQFSFYGIFTVFSLVATSLPFFGHVLA", "length": 755, "header": "tr|A0A0B4K709-1|A0A0B4K709_DROME Isoform 1 of Uncharacterized protein, isoform E OS=Drosophila melanogaster OX=7227 GN=CG13818 PE=1 SV=1 CANONICAL=A0A0B4K709-1" }, "locus": { "chromosome": "3R", "start_pos": 23849346, "end_pos": 23821530, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0306735", "url": "https://www.ensembl.org/id/FBtr0306735" }, { "database": "Ensembl Peptide", "id": "FBpp0297661", "url": "https://www.ensembl.org/id/FBpp0297661" } ] } }, { "isoform_ac": "A0A126GV09-1", "url": "", "sequence": { "sequence": "MWRKASRLVRETTSWKTRRQGQAEAPSAAVATIKPSTRTSTPIAHGLPIIITWSQLAIVAAVAVLLQCHVCQAGRAPPEPYYGRYIGDFTNFAHGIKGQIYAVDESTLFVKSFAYDGTGPDAFFWVGKTPRPSPDGYIIPYPEEYTGMDPPILQAHNRTDIILRLPMGKRIKDIRWLSVWCRRFTVDFGEVFIPPNLDVPKPRVLPEFKRLAHGLRSSNISVLDAKTFYIPNLHYDGAGPDAYFWVGNGSEPNIMGIKVPNESGSLEPLRGYQGEDIEIQLPESLTVYDIDWLAVWCVEYRHNFGHVYIPRDLDVPPALGQTKITTTTTPRPVYSNCREILPNKLQIKWELQGEYLQVELFGRITEDQYMAFGLSGANGRAQMSQSDVVVAFYDTTTRVFRAEDYFISDLSQCDGQRGACPDERIGGRNDVIVLSGDRKNGVTSIRYKRLLQPNEAIYDAPIPTDREVSVIAAIGPLNARKEANAHSHTASDHNQDDIRINFSARNDHACQSSLYDVKDESGPRPWPTRKIEGVRKFRASIGPTGGKRGYTSITGVPSWGIAWYVNDLLIPEITVERGLTYEFIIEGGNDPSQPARYHPFYITDSPEGGLGQKMGLEARKQKAYAGVEYDEDGNAIPTGGGRYCEWEHQTIDRSAEIDTFEEYMKTLVFKCEDGEPGYLNWTVPTNAPDQLYYQCFTHNNLGWKINVVDMGSSGGSKVSSHQFSFYGIFTVFSLVATSLPFFGHVLA", "length": 747, "header": "tr|A0A126GV09-1|A0A0B4K709_DROME Computationally mapped isoform of Uncharacterized protein, isoform E OS=Drosophila melanogaster OX=7227 GN=CG13818 PE=1 SV=1 CANONICAL=A0A0B4K709-1" }, "locus": { "chromosome": "3R", "start_pos": 23849346, "end_pos": 23821530, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0347562", "url": "https://www.ensembl.org/id/FBtr0347562" }, { "database": "Ensembl Peptide", "id": "FBpp0312595", "url": "https://www.ensembl.org/id/FBpp0312595" } ] } }, { "isoform_ac": "Q9VCG8-1", "url": "", "sequence": { "sequence": "MWRKASRLVRETTSWKTRRQGQAEAPSAAVATIKPSTRTSTPIAHGLPIIITWSQLAIVAAVAVLLQCHVCQAAGRAPPEPYYGRYIGDFTNFAHGIKGQIYAVDESTLFVKSFAYDGTGPDAFFWVGKTPRPSPDGYIIPYPEEYTGMDPPILQAHNRTDIILRLPMGKRIKDIRWLSVWCRRFTVDFGEVFIPPNLDVPKPRVLPEFKRLAHGLRSSNISVLDAKTFYIPNLHYDGAGPDAYFWVGNGSEPNIMGIKVPNESGSLEPLRGYQGEDIEIQLPESLTVYDIDWLAVWCVEYRHNFGHVYIPRDLDVPPALGQTKITTTTTPRPVYSNCREILPNKLQIKWELQGEYLQVELFGRITEDQYMAFGLSGANGRAQMSQSDVVVAFYDTTTRVFRAEDYFISDLSQCDGQRGACPDERIGGRNDVIVLSGDRKNGVTSIRYKRLLQPNEAIYDAPIPTDREVSVIAAIGPLNARKEANAHSHTASDHNQDDIRINFSARNDHACQSSLYDVKDESGPRPWPTRKIEGVRKFRASIGPTGGKRGYTSITGVPSWGIAWYVNDLLIPEITVERGLTYEFIIEGGNDPSQPARYHPFYITDSPEGGLGQKMGLEARKQKAYAGVEYDEDGNAIPTGGGRYCEWEHQTIDRSAEIDTFEEYMKTLVFKCEDGEPGYLNWTVPTNAPDQLYYQCFTHNNLGWKINVVDMGSSGGSKVSSHQFSFYGIFTVFSLVATSLPFFGHVLA", "length": 748, "header": "tr|Q9VCG8-1|A0A0B4K709_DROME Computationally mapped isoform of Uncharacterized protein, isoform E OS=Drosophila melanogaster OX=7227 GN=CG13818 PE=1 SV=4 CANONICAL=A0A0B4K709-1" }, "locus": { "chromosome": "3R", "start_pos": 23849346, "end_pos": 23821530, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0273215", "url": "https://www.ensembl.org/id/FBtr0273215" }, { "database": "Ensembl Peptide", "id": "FBpp0271723", "url": "https://www.ensembl.org/id/FBpp0271723" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [], "pathway": [ { "id": "dme:Dmel_CG34355", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+dme:Dmel_CG34355", "resource": "KEGG Pathway" } ], "orthologs": [], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K709", "url": "https://www.uniprot.org/uniprot/A0A0B4K709" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 158, "end_pos": 160, "annotation": "n_glycosylation_sequon" }, { "start_pos": 220, "end_pos": 222, "annotation": "n_glycosylation_sequon" }, { "start_pos": 249, "end_pos": 251, "annotation": "n_glycosylation_sequon" }, { "start_pos": 262, "end_pos": 264, "annotation": "n_glycosylation_sequon" }, { "start_pos": 509, "end_pos": 511, "annotation": "n_glycosylation_sequon" }, { "start_pos": 688, "end_pos": 690, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }