{ "uniprot_canonical_ac": "A0A023IKK2-1", "uniprot_ac": "A0A023IKK2", "uniprot_id": "A0A023IKK2_RAT", "mass": { "chemical_mass": 32180.0, "monoisotopic_mass": 32180.0 }, "refseq": { "ac": "XP_006255973", "name": "RT1 class II, locus Db2 isoform X1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_006255973" }, "gene_names": [ { "name": "RT1-Db2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A023IKK2", "id": "A0A023IKK2" }, { "name": "Db2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_006255973", "id": "XP_006255973" }, { "name": "Db2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A023IKK2", "id": "A0A023IKK2" }, { "name": "RT1-Db2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_006255973", "id": "XP_006255973" } ], "protein_names": [ { "name": "MHC class II beta chain", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A0A023IKK2" }, { "name": "RT1 class II, locus Db2 isoform X1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_006255973", "id": "XP_006255973" }, { "name": "RT1 class II, locus Db2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A0A023IKK2" }, { "name": "RT1-Db2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A0A023IKK2" } ], "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:0050168", "recommended_name": { "id": "DOID:0050168", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050168", "name": "autoimmune polyendocrine syndrome type 2", "description": "An autoimmune polyendocrine syndrome that is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. It is more heterogeneous and has not been linked to one gene." }, "synonyms": [ { "id": "DOID:0050168", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050168", "name": "Schmidt syndrome", "description": "" }, { "id": "MONDO:0010012", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010012", "name": "autoimmune polyendocrinopathy type 2", "description": "Autoimmune polyglandular syndrome of likely polygenic etiology characterized by the presence of primary adrenal insufficiency in association with autoimmune thyroiditis and/or type 1 diabetes mellitus; this condition is not associated with mucocutaneous candidiasis." }, { "id": "MONDO:0010012", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010012", "name": "APS type 2", "description": "" }, { "id": "MONDO:0010012", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010012", "name": "APS2", "description": "" }, { "id": "MONDO:0010012", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010012", "name": "Schmidt syndrome", "description": "" }, { "id": "MONDO:0010012", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010012", "name": "autoimmune polyendocrine syndrome type 2", "description": "" }, { "id": "MONDO:0010012", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010012", "name": "autoimmune polyglandular syndrome type 2", "description": "" }, { "id": "MONDO:0010012", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010012", "name": "autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome", "description": "" }, { "id": "MONDO:0010012", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010012", "name": "APS 2", "description": "" }, { "id": "MONDO:0010012", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010012", "name": "PGA 2", "description": "" }, { "id": "MONDO:0010012", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010012", "name": "Schmidt's syndrome", "description": "" }, { "id": "MONDO:0010012", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010012", "name": "autoimmune polyendocrine syndrome, type II", "description": "" }, { "id": "MONDO:0010012", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010012", "name": "diabetes mellitus, Addison disease, myxedema", "description": "" }, { "id": "MONDO:0010012", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010012", "name": "diabetes mellitus, Addison's disease, myxedema", "description": "" }, { "id": "MONDO:0010012", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010012", "name": "multiple endocrine deficiency syndrome, type 2", "description": "" }, { "id": "MONDO:0010012", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010012", "name": "polyendocrine autoimmune syndrome, type 2", "description": "" }, { "id": "MONDO:0010012", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010012", "name": "polyglandular autoimmune syndrome, type 2", "description": "" }, { "id": "MONDO:0010012", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010012", "name": "polyglandular deficiency syndrome type 2", "description": "" } ], "evidence": [ { "id": "0050168", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050168" } ] }, { "disease_id": "DOID:0050784", "recommended_name": { "id": "DOID:0050784", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050784", "name": "primary progressive multiple sclerosis", "description": "A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous." }, "synonyms": [ { "id": "DOID:0050784", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050784", "name": "PPMS", "description": "" }, { "id": "DOID:0050784", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050784", "name": "Primary-progressive MS", "description": "" } ], "evidence": [ { "id": "0050784", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050784" } ] }, { "disease_id": "DOID:0050827", "recommended_name": { "id": "DOID:0050827", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050827", "name": "rheumatic heart disease", "description": "A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords." }, "synonyms": [ { "id": "DOID:0050827", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050827", "name": "rheumatic carditis", "description": "" } ], "evidence": [ { "id": "0050827", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050827" } ] }, { "disease_id": "DOID:0060532", "recommended_name": { "id": "DOID:0060532", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060532", "name": "latex allergy", "description": "An allergic disease that is triggered by latex." }, "synonyms": [], "evidence": [ { "id": "0060532", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060532" } ] }, { "disease_id": "DOID:0080162", "recommended_name": { "id": "DOID:0080162", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080162", "name": "lupus nephritis", "description": "A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus." }, "synonyms": [], "evidence": [ { "id": "0080162", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080162" } ] }, { "disease_id": "DOID:0080822", "recommended_name": { "id": "DOID:0080822", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080822", "name": "aspirin-induced respiratory disease", "description": "An intrinsic asthma that is characertized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs." }, "synonyms": [ { "id": "DOID:0080822", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080822", "name": "aspirin-sensitive asthma", "description": "" } ], "evidence": [ { "id": "0080822", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080822" } ] }, { "disease_id": "DOID:10003", "recommended_name": { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "sensorineural hearing loss", "description": "An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem." }, "synonyms": [ { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "High Frequency Hearing Loss", "description": "" }, { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "High frequency deafness", "description": "" }, { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "Perceptive deafness", "description": "" }, { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "Perceptive hearing loss", "description": "" }, { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "Perceptive hearing loss or deafness", "description": "" }, { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "Sensorineural Deafness", "description": "" }, { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "Sensory hearing loss", "description": "" }, { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "central hearing loss", "description": "" }, { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "high-frequency hearing loss", "description": "" } ], "evidence": [ { "id": "10003", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10003" } ] }, { "disease_id": "DOID:1024", "recommended_name": { "id": "DOID:1024", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1024", "name": "leprosy", "description": "A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage." }, "synonyms": [ { "id": "MONDO:0012358", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012358", "name": "leprosy, susceptibility to, 1", "description": "" }, { "id": "MONDO:0012358", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012358", "name": "LPRS1", "description": "" }, { "id": "MONDO:0012358", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012358", "name": "leprosy, paucibacillary type, susceptibility to", "description": "" }, { "id": "MONDO:0012358", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012358", "name": "leprosy, susceptibility to, 1", "description": "" }, { "id": "MONDO:0012358", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012358", "name": "leprosy, Paucibacillary type, susceptibility to, 1", "description": "" }, { "id": "MONDO:0013257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013257", "name": "leprosy, susceptibility to, 6", "description": "" }, { "id": "MONDO:0013257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013257", "name": "LPRS6", "description": "" }, { "id": "MONDO:0013257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013257", "name": "leprosy, susceptibility to, 6", "description": "" }, { "id": "MONDO:0011860", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011860", "name": "leprosy, susceptibility to, 2", "description": "" }, { "id": "MONDO:0011860", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011860", "name": "LPRS2", "description": "" }, { "id": "MONDO:0011860", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011860", "name": "leprosy, susceptibility to, 2", "description": "" } ], "evidence": [ { "id": "1024", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1024" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ], "evidence": [ { "id": "10283", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:104", "recommended_name": { "id": "DOID:104", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:104", "name": "bacterial infectious disease", "description": "A disease by infectious agent that results_in infection, has_material_basis_in Bacteria." }, "synonyms": [], "evidence": [ { "id": "104", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:104" } ] }, { "disease_id": "DOID:10608", "recommended_name": { "id": "DOID:10608", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10608", "name": "celiac disease", "description": "An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite." }, "synonyms": [ { "id": "DOID:10608", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10608", "name": "celiac sprue", "description": "" }, { "id": "DOID:10608", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10608", "name": "coeliac disease", "description": "" }, { "id": "DOID:10608", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10608", "name": "idiopathic steatorrhea", "description": "" }, { "id": "MONDO:0012780", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012780", "name": "celiac disease, susceptibility to, 11", "description": "" }, { "id": "MONDO:0012780", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012780", "name": "CELIAC11", "description": "" }, { "id": "MONDO:0012780", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012780", "name": "celiac disease, susceptibility to, 11", "description": "" }, { "id": "MONDO:0012780", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012780", "name": "gluten-sensitive enteropathy, susceptibility to, 11", "description": "" }, { "id": "MONDO:0012779", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012779", "name": "celiac disease, susceptibility to, 10", "description": "" }, { "id": "MONDO:0012779", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012779", "name": "CELIAC10", "description": "" }, { "id": "MONDO:0012779", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012779", "name": "celiac disease, susceptibility to, 10", "description": "" }, { "id": "MONDO:0012779", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012779", "name": "gluten-sensitive enteropathy, susceptibility to, 10", "description": "" }, { "id": "MONDO:0012778", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012778", "name": "celiac disease, susceptibility to, 9", "description": "" }, { "id": "MONDO:0012778", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012778", "name": "CELIAC9", "description": "" }, { "id": "MONDO:0012778", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012778", "name": "celiac disease, susceptibility to, 9", "description": "" }, { "id": "MONDO:0012778", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012778", "name": "gluten-sensitive enteropathy, susceptibility to, 9", "description": "" }, { "id": "MONDO:0012777", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012777", "name": "celiac disease, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012777", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012777", "name": "CELIAC8", "description": "" }, { "id": "MONDO:0012777", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012777", "name": "celiac disease, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012777", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012777", "name": "gluten-sensitive enteropathy, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012776", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012776", "name": "celiac disease, susceptibility to, 7", "description": "" }, { "id": "MONDO:0012776", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012776", "name": "CELIAC7", "description": "" }, { "id": "MONDO:0012776", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012776", "name": "celiac disease, susceptibility to, 7", "description": "" }, { "id": "MONDO:0012776", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012776", "name": "gluten-sensitive enteropathy, susceptibility to, 7", "description": "" }, { "id": "MONDO:0011793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011793", "name": "celiac disease, susceptibility to, 5", "description": "" }, { "id": "MONDO:0011793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011793", "name": "CELIAC5", "description": "" }, { "id": "MONDO:0011793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011793", "name": "celiac disease, susceptibility to, 5", "description": "" }, { "id": "MONDO:0011793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011793", "name": "GSES", "description": "" }, { "id": "MONDO:0011793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011793", "name": "gluten-sensitive enteropathy, susceptibility to, 5", "description": "" }, { "id": "MONDO:0012782", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012782", "name": "celiac disease, susceptibility to, 13", "description": "" }, { "id": "MONDO:0012782", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012782", "name": "CELIAC13", "description": "" }, { "id": "MONDO:0012782", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012782", "name": "celiac disease, susceptibility to, 13", "description": "" }, { "id": "MONDO:0012782", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012782", "name": "gluten-sensitive enteropathy, susceptibility to, 13", "description": "" }, { "id": "MONDO:0012340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012340", "name": "celiac disease, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012340", "name": "CELIAC2", "description": "" }, { "id": "MONDO:0012340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012340", "name": "celiac disease, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012340", "name": "gluten-sensitive enteropathy, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012702", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012702", "name": "celiac disease, susceptibility to, 6", "description": "" }, { "id": "MONDO:0012702", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012702", "name": "CELIAC6", "description": "" }, { "id": "MONDO:0012702", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012702", "name": "celiac disease, susceptibility to, 6", "description": "" }, { "id": "MONDO:0012702", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012702", "name": "autoimmune disease, susceptibility to, 5", "description": "" }, { "id": "MONDO:0012702", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012702", "name": "gluten-sensitive enteropathy, susceptibility to, 6", "description": "" }, { "id": "MIM:612011", "resource": "MIM", "url": "https://www.omim.org/entry/612011", "name": "Celiac disease 13", "description": "Celiac disease 13" } ], "evidence": [ { "id": "10608", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10608" } ] }, { "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:10983", "recommended_name": { "id": "DOID:10983", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10983", "name": "Alport syndrome", "description": "A syndrome disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss." }, "synonyms": [ { "id": "DOID:10983", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10983", "name": "Hereditary Nephritis", "description": "" } ], "evidence": [ { "id": "10983", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10983" } ] }, { "disease_id": "DOID:11166", "recommended_name": { "id": "DOID:11166", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11166", "name": "Human papillomavirus infectious disease", "description": "A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact." }, "synonyms": [ { "id": "DOID:11166", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11166", "name": "HPV", "description": "" } ], "evidence": [ { "id": "11166", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11166" } ] }, { "disease_id": "DOID:11266", "recommended_name": { "id": "DOID:11266", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11266", "name": "Hantavirus hemorrhagic fever with renal syndrome", "description": "A viral infectious disease that is a hemorrhagic fever, located in kidney, has_material_basis_in Orthohantavirus dobravaense, has_material_basis_in Orthohantavirus hantanense, has_material_basis_in Orthohantavirus puumalaense, has_material_basis_in Orthohantavirus seoulense, which are carried and transmitted by rodents. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom proteinuria, and has symptom renal failure." }, "synonyms": [ { "id": "DOID:11266", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11266", "name": "HFRS", "description": "" }, { "id": "DOID:11266", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11266", "name": "Hemorrhagic fever, Russian", "description": "" }, { "id": "DOID:11266", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11266", "name": "Hemorrhagic nephrosonephritis", "description": "" }, { "id": "DOID:11266", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11266", "name": "Puumala virus nephropathy", "description": "" } ], "evidence": [ { "id": "11266", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11266" } ] }, { "disease_id": "DOID:11335", "recommended_name": { "id": "DOID:11335", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11335", "name": "sarcoidosis", "description": "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs." }, "synonyms": [ { "id": "DOID:11335", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11335", "name": "Boeck sarcoid", "description": "" }, { "id": "DOID:11335", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11335", "name": "lymphogranulomatosis", "description": "" } ], "evidence": [ { "id": "11335", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11335" } ] }, { "disease_id": "DOID:11656", "recommended_name": { "id": "DOID:11656", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11656", "name": "cicatricial pemphigoid", "description": "A pemphigoid that is characterized by skin lesions and scaring and located_in mucous membranes and located_in skin." }, "synonyms": [ { "id": "DOID:11656", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11656", "name": "Cicatricial pemphigoid with ocular involvement", "description": "" }, { "id": "DOID:11656", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11656", "name": "Ocular pemphigoid", "description": "" }, { "id": "DOID:11656", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11656", "name": "benign mucous membrane pemphigoid", "description": "" }, { "id": "DOID:11656", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11656", "name": "ocular pemphigus", "description": "" }, { "id": "DOID:11656", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11656", "name": "benign mucous membrane pemphigoid with ocular involvement", "description": "" }, { "id": "MONDO:0008109", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008109", "name": "ocular cicatricial pemphigoid", "description": "Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes. In the early stages, people with OCPgenerally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drainage. If left untreated, OCP can progress to severe conjunctiva scarring and vision loss. Involvement of other mucosal sites and the skin may also occur in OCP. The exact underlying cause is currently unknown. The treatment of OCP aims to slow disease progression and prevent complications. This usually involves long-term use of medications called immunomodulators which help regulate or normalize the immune system." }, { "id": "MONDO:0008109", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008109", "name": "ocular cicatricial pemphigoid", "description": "" }, { "id": "MONDO:0008109", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008109", "name": "OCP", "description": "" }, { "id": "MONDO:0008109", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008109", "name": "cicatricial pemphigoid, ocular", "description": "" }, { "id": "MONDO:0008109", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008109", "name": "pemphigoid, ocular cicatricial", "description": "" } ], "evidence": [ { "id": "11656", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11656" } ] }, { "disease_id": "DOID:11713", "recommended_name": { "id": "DOID:11713", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11713", "name": "diabetic angiopathy", "description": "A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes." }, "synonyms": [ { "id": "DOID:11713", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11713", "name": "diabetic peripheral angiopathy", "description": "" }, { "id": "DOID:11713", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11713", "name": "Diabetic vascular disorder", "description": "" } ], "evidence": [ { "id": "11713", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11713" } ] }, { "disease_id": "DOID:12029", "recommended_name": { "id": "DOID:12029", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12029", "name": "sympathetic ophthalmia", "description": "A panuveitis that is characterized by bilateral diffuse intraocular inflammation following penetrating trauma to an eye, has_symptom blurry vision, watering, pain, and photophobia." }, "synonyms": [ { "id": "DOID:12029", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12029", "name": "Sympathetic uveitis", "description": "" } ], "evidence": [ { "id": "12029", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12029" } ] }, { "disease_id": "DOID:1205", "recommended_name": { "id": "DOID:1205", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1205", "name": "allergic disease", "description": "An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods." }, "synonyms": [ { "id": "DOID:1205", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1205", "name": "hypersensitivity", "description": "" }, { "id": "DOID:1205", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1205", "name": "hypersensitivity reaction type I disease", "description": "" }, { "id": "DOID:1205", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1205", "name": "allergic hypersensitivity disease", "description": "" } ], "evidence": [ { "id": "1205", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1205" } ] }, { "disease_id": "DOID:1210", "recommended_name": { "id": "DOID:1210", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1210", "name": "optic neuritis", "description": "An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision." }, "synonyms": [], "evidence": [ { "id": "1210", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1210" } ] }, { "disease_id": "DOID:12140", "recommended_name": { "id": "DOID:12140", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12140", "name": "Chagas disease", "description": "A trypanosomiasis that is a tropical parasitic disease caused by the flagellate protozoan Trypanosoma cruzi, which is transmitted to humans and other mammals by an insect vector, the blood-sucking assassin bugs of the subfamily Triatominae (family Reduviidae), most commonly species belonging to the Triatoma, Rhodnius, and Panstrongylus genera. The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis." }, "synonyms": [ { "id": "DOID:12140", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12140", "name": "Chagas' disease", "description": "" }, { "id": "DOID:12140", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12140", "name": "chagas' disease with digestive system involvement", "description": "" }, { "id": "DOID:12140", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12140", "name": "chagas' disease with nervous system involvement", "description": "" }, { "id": "DOID:12140", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12140", "name": "chagas' disease with other organ involvement", "description": "" } ], "evidence": [ { "id": "12140", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12140" } ] }, { "disease_id": "DOID:12148", "recommended_name": { "id": "DOID:12148", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12148", "name": "alveolar echinococcosis", "description": "An echinococcosis that is caused by the larvae of Echinococcus multilocularis affecting the liver as a slow growing, destructive tumor, with abdominal pain, biliary obstruction, and occasionally metastatic lesions into the lungs and brain." }, "synonyms": [ { "id": "DOID:12148", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12148", "name": "Multilocular hydatid", "description": "" }, { "id": "DOID:12148", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12148", "name": "alveolococcosis", "description": "" }, { "id": "DOID:12148", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12148", "name": "small fox tapeworm", "description": "" } ], "evidence": [ { "id": "12148", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12148" } ] }, { "disease_id": "DOID:12297", "recommended_name": { "id": "DOID:12297", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12297", "name": "Vogt-Koyanagi-Harada disease", "description": "An autoimmune disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis." }, "synonyms": [ { "id": "DOID:12297", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12297", "name": "Harada's disease", "description": "" }, { "id": "DOID:12297", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12297", "name": "Vogt-Koyanagi syndrome", "description": "" }, { "id": "DOID:12297", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12297", "name": "uveomeningoencephalitic syndrome", "description": "" } ], "evidence": [ { "id": "12297", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12297" } ] }, { "disease_id": "DOID:12306", "recommended_name": { "id": "DOID:12306", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12306", "name": "vitiligo", "description": "An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes." }, "synonyms": [ { "id": "MONDO:0700077", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700077", "name": "vitiligo-associated multiple autoimmune disease susceptibility 6", "description": "" }, { "id": "MONDO:0700077", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700077", "name": "VAMAS6", "description": "" }, { "id": "MIM:193200", "resource": "MIM", "url": "https://www.omim.org/entry/193200", "name": "Vitiligo", "description": "Vitiligo" } ], "evidence": [ { "id": "12306", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12306" } ] }, { "disease_id": "DOID:12361", "recommended_name": { "id": "DOID:12361", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12361", "name": "Graves' disease", "description": "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland." }, "synonyms": [ { "id": "DOID:12361", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12361", "name": "Grave's disease", "description": "" }, { "id": "DOID:12361", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12361", "name": "Graves disease", "description": "" }, { "id": "DOID:12361", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12361", "name": "exophthalmic goiter", "description": "" } ], "evidence": [ { "id": "12361", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12361" } ] }, { "disease_id": "DOID:1245", "recommended_name": { "id": "DOID:1245", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1245", "name": "vulva cancer", "description": "A female reproductive organ cancer that is located_in the vulva." }, "synonyms": [ { "id": "DOID:1245", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1245", "name": "Ca vulva", "description": "" }, { "id": "DOID:1245", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1245", "name": "Vulvar tumor", "description": "" }, { "id": "DOID:1245", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1245", "name": "malignant Vulvar tumor", "description": "" }, { "id": "DOID:1245", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1245", "name": "malignant neoplasm of vulva", "description": "" }, { "id": "DOID:1245", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1245", "name": "malignant tumor of vulva", "description": "" }, { "id": "DOID:1245", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1245", "name": "neoplasm of vulva", "description": "" }, { "id": "DOID:1245", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1245", "name": "vulval cancer", "description": "" }, { "id": "DOID:1245", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1245", "name": "vulval neoplasm", "description": "" }, { "id": "DOID:1245", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1245", "name": "vulvar neoplasm", "description": "" } ], "evidence": [ { "id": "1245", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1245" } ] }, { "disease_id": "DOID:12662", "recommended_name": { "id": "DOID:12662", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12662", "name": "paracoccidioidomycosis", "description": "A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis." }, "synonyms": [ { "id": "DOID:12662", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12662", "name": "Mucocutaneous-lymphangitic paracoccidioidomycosis", "description": "" }, { "id": "DOID:12662", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12662", "name": "paracoccidioidal mycosis", "description": "" } ], "evidence": [ { "id": "12662", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12662" } ] }, { "disease_id": "DOID:12849", "recommended_name": { "id": "DOID:12849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12849", "name": "autistic disorder", "description": "An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years." }, "synonyms": [ { "id": "DOID:12849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12849", "name": "Kanner's syndrome", "description": "" }, { "id": "DOID:12849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12849", "name": "autism", "description": "" }, { "id": "DOID:12849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12849", "name": "autistic disorder of childhood onset", "description": "" }, { "id": "DOID:12849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12849", "name": "childhood autism", "description": "" }, { "id": "DOID:12849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12849", "name": "infantile autism", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "autism", "description": "Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior." }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "autism spectrum disorder", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "Kanner's syndrome", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "autism", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "autism (disease)", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "autistic disorder of childhood onset", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "childhood autism", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "infantile autism", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "autism, susceptiblity to", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "autistic disorder", "description": "" } ], "evidence": [ { "id": "12849", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12849" } ] }, { "disease_id": "DOID:12859", "recommended_name": { "id": "DOID:12859", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12859", "name": "choreatic disease", "description": "A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next." }, "synonyms": [ { "id": "DOID:12859", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12859", "name": "chorea", "description": "" }, { "id": "DOID:12859", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12859", "name": "hereditary chorea", "description": "" }, { "id": "MONDO:0021011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021011", "name": "hereditary progressive chorea without dementia", "description": "" }, { "id": "MONDO:0021011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021011", "name": "BHC", "description": "" }, { "id": "MONDO:0021011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021011", "name": "chorea, benign hereditary", "description": "" }, { "id": "MONDO:0021011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021011", "name": "chorea, hereditary benign", "description": "" }, { "id": "MONDO:0021011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021011", "name": "hereditary progressive chorea without dementia", "description": "" }, { "id": "MONDO:0021011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021011", "name": "BCH", "description": "" }, { "id": "MONDO:0008979", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008979", "name": "chorea, benign familial", "description": "Benign hereditary chorea (BHC) is a rare movement disorder that beginsin infancy or childhood. Signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. Signs and symptoms in children may include delayed motor and walking milestones, jerky muscle movements (myoclonus), upper limb dystonia, motor tics, and vocal tics. The chorea often improves with time. In some cases, myoclonus persists or worsens. Children with BHC can havenormal intellect, but may have learning and behavior problems. Other signs and symptoms include thyroid problems (e.g., hypothyroidism) and lung disease (e.g., recurring infections). Treatment is tailored to each child. Tetrabenazine and levodopa have been tried in individual cases with some success. BHC is caused by mutations in the NKX2-1 gene (also known as the TITF1 gene). It is passed through families in an autosomal dominant fashion." }, { "id": "MONDO:0008979", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008979", "name": "chorea, benign familial", "description": "" }, { "id": "MONDO:0008979", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008979", "name": "benign hereditary chorea", "description": "" }, { "id": "MONDO:0008979", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008979", "name": "chorea familial benign", "description": "" }, { "id": "MIM:118700", "resource": "MIM", "url": "https://www.omim.org/entry/118700", "name": "Chorea, hereditary benign", "description": "Chorea, hereditary benign" } ], "evidence": [ { "id": "12859", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12859" } ] }, { "disease_id": "DOID:12894", "recommended_name": { "id": "DOID:12894", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12894", "name": "Sjogren's syndrome", "description": "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva." }, "synonyms": [ { "id": "DOID:12894", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12894", "name": "Sicca syndrome", "description": "" }, { "id": "DOID:12894", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12894", "name": "Sjogren syndrome", "description": "" }, { "id": "DOID:12894", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12894", "name": "xerodermosteosis", "description": "" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "Sjogren syndrome", "description": "An autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjgren syndrome is also associated with rheumatic disorders such as rheumatoid arthritis or systemic lupus erythematosus. The hallmark symptoms of Sjgren syndrome are dry mouth and dry eyes. In addition, Sjogren syndrome may cause skin, nose, and vaginal dryness. It also may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "Sjogren syndrome", "description": "" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "Sjgren syndrome", "description": "" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "Sjgren-Gougerot syndrome", "description": "" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "primary Sjogren-Gougerot syndrome", "description": "" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "primary Sjgren-Gougerot syndrome", "description": "" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "sicca syndrome", "description": "" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "syndrome, Sjogren's", "description": "" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "xerodermosteosis", "description": "" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "Sjogren's syndrome", "description": "" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "primary Sjgren syndrome", "description": "" } ], "evidence": [ { "id": "12894", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12894" } ] }, { "disease_id": "DOID:13025", "recommended_name": { "id": "DOID:13025", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13025", "name": "retinopathy of prematurity", "description": "" }, "synonyms": [ { "id": "DOID:13025", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13025", "name": "Retrolental fibroplasia", "description": "" }, { "id": "DOID:13025", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13025", "name": "premature retinopathy", "description": "" } ], "evidence": [ { "id": "13025", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13025" } ] }, { "disease_id": "DOID:13141", "recommended_name": { "id": "DOID:13141", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13141", "name": "uveitis", "description": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid." }, "synonyms": [], "evidence": [ { "id": "13141", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ] }, { "disease_id": "DOID:13166", "recommended_name": { "id": "DOID:13166", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13166", "name": "allergic bronchopulmonary aspergillosis", "description": "An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has symptom cough, has symptom wheezing and has symptom fever." }, "synonyms": [ { "id": "DOID:13166", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13166", "name": "pulmonary aspergillus disease", "description": "" }, { "id": "MONDO:0015243", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015243", "name": "allergic bronchopulmonary aspergillosis", "description": "Allergic bronchopulmonary aspergillosis (ABPA) is a rare immunologic pulmonary disorder caused by hypersensitivity to Aspergillus fumigatus, clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates." }, { "id": "MONDO:0015243", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015243", "name": "ABPA", "description": "" }, { "id": "MONDO:0015243", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015243", "name": "Hinson-Pepys disease", "description": "" }, { "id": "MONDO:0015243", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015243", "name": "allergic aspergillosis", "description": "" }, { "id": "MONDO:0015243", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015243", "name": "pulmonary aspergillus disease", "description": "" }, { "id": "MONDO:0015243", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015243", "name": "allergic bronchopulmonary aspergillosis, familial", "description": "" }, { "id": "MONDO:0015243", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015243", "name": "allergic bronchopulmonary mycosis", "description": "" }, { "id": "MONDO:0015243", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015243", "name": "aspergillosis, allergic bronchopulmonary", "description": "" } ], "evidence": [ { "id": "13166", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13166" } ] }, { "disease_id": "DOID:13241", "recommended_name": { "id": "DOID:13241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13241", "name": "Behcet's disease", "description": "A vasculitis that is characterized by an autoimmune mediated inflammation of the blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis." }, "synonyms": [ { "id": "DOID:13241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13241", "name": "Adamantiades-Behcet disease", "description": "" }, { "id": "DOID:13241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13241", "name": "Behcet syndrome", "description": "" }, { "id": "DOID:13241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13241", "name": "Behet's syndrome", "description": "" }, { "id": "DOID:13241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13241", "name": "triple symptom complex", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behcet disease", "description": "A chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations." }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Adamantiades-Behcet disease", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Bechet syndrome", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behcet disease", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behcet syndrome", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behcet's syndrome", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behet's syndrome", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behet disease", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behet syndrome", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behet-Adamantiades syndrome", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Morbus Behet's syndrome", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "silk road disease", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "triple symptom complex", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "BD", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behcet's disease", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behet's disease", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behets disease", "description": "" } ], "evidence": [ { "id": "13241", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ] }, { "disease_id": "DOID:13258", "recommended_name": { "id": "DOID:13258", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13258", "name": "typhoid fever", "description": "A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia." }, "synonyms": [ { "id": "DOID:13258", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13258", "name": "Typhoid", "description": "" } ], "evidence": [ { "id": "13258", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13258" } ] }, { "disease_id": "DOID:13375", "recommended_name": { "id": "DOID:13375", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13375", "name": "temporal arteritis", "description": "A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head." }, "synonyms": [ { "id": "DOID:13375", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13375", "name": "Horton's disease", "description": "" }, { "id": "DOID:13375", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13375", "name": "giant cell arteritis", "description": "" }, { "id": "MONDO:0008538", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008538", "name": "temporal arteritis", "description": "A large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries." }, { "id": "MONDO:0008538", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008538", "name": "Horton disease", "description": "" }, { "id": "MONDO:0008538", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008538", "name": "Horton's disease", "description": "" }, { "id": "MONDO:0008538", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008538", "name": "giant cell arteritis", "description": "" }, { "id": "MONDO:0008538", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008538", "name": "inflammation of temporal artery", "description": "" }, { "id": "MONDO:0008538", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008538", "name": "temporal arteritis", "description": "" }, { "id": "MONDO:0008538", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008538", "name": "temporal artery inflammation", "description": "" }, { "id": "MONDO:0008538", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008538", "name": "GCA", "description": "" }, { "id": "MONDO:0008538", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008538", "name": "Horton's arteritis", "description": "" }, { "id": "MONDO:0008538", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008538", "name": "Horton's giant cell arteritis", "description": "" }, { "id": "MONDO:0008538", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008538", "name": "Horton's temporal arteritis", "description": "" }, { "id": "MONDO:0008538", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008538", "name": "Hortons disease", "description": "" }, { "id": "MONDO:0008538", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008538", "name": "Hortons syndrome", "description": "" }, { "id": "MONDO:0008538", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008538", "name": "arteritis cranialis", "description": "" }, { "id": "MONDO:0008538", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008538", "name": "arteritis temporalis", "description": "" }, { "id": "MONDO:0008538", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008538", "name": "cranial arteritis", "description": "" }, { "id": "MONDO:0008538", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008538", "name": "polymyalgia rheumatica", "description": "" } ], "evidence": [ { "id": "13375", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13375" } ] }, { "disease_id": "DOID:1340", "recommended_name": { "id": "DOID:1340", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1340", "name": "pure red-cell aplasia", "description": "" }, "synonyms": [ { "id": "DOID:1340", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1340", "name": "Red cell hypoplasia", "description": "" }, { "id": "DOID:1340", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1340", "name": "primary red cell aplasia", "description": "" }, { "id": "DOID:1340", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1340", "name": "pure red cell aplasia", "description": "" } ], "evidence": [ { "id": "1340", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1340" } ] }, { "disease_id": "DOID:13404", "recommended_name": { "id": "DOID:13404", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13404", "name": "uveoparotid fever", "description": "A sarcoidosis that is characterized by unilateral facial nerve palsy, parotid gland enlargement, anterior uveitis, and low grade fever, and develops_from a type IV hypersensitivity reaction with noncaseating granulomatous infiltration of especially the parotid glands which compresses the facial nerve." }, "synonyms": [ { "id": "DOID:13404", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13404", "name": "Heerfordt's syndrome", "description": "" } ], "evidence": [ { "id": "13404", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13404" } ] }, { "disease_id": "DOID:13406", "recommended_name": { "id": "DOID:13406", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13406", "name": "pulmonary sarcoidosis", "description": "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction." }, "synonyms": [ { "id": "DOID:13406", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13406", "name": "lung Sarcoidosis", "description": "" } ], "evidence": [ { "id": "13406", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ] }, { "disease_id": "DOID:13774", "recommended_name": { "id": "DOID:13774", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13774", "name": "Addison's disease", "description": "An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands." }, "synonyms": [ { "id": "DOID:13774", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13774", "name": "Addison disease", "description": "" }, { "id": "DOID:13774", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13774", "name": "Addison disease, chronic adrenal insufficiency", "description": "" }, { "id": "DOID:13774", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13774", "name": "HYPOADRENOCORTICISM, FAMILIAL", "description": "" }, { "id": "DOID:13774", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13774", "name": "primary adrenocortical insufficiency", "description": "" }, { "id": "DOID:13774", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13774", "name": "primary hypoadrenalism", "description": "" }, { "id": "MONDO:0015129", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015129", "name": "chronic primary adrenal insufficiency", "description": "A chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones." }, { "id": "MONDO:0015129", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015129", "name": "Addison disease", "description": "" }, { "id": "MONDO:0015129", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015129", "name": "Addison disease, chronic adrenal insufficiency", "description": "" }, { "id": "MONDO:0015129", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015129", "name": "Addison's disease", "description": "" }, { "id": "MONDO:0015129", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015129", "name": "CPAI", "description": "" }, { "id": "MONDO:0015129", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015129", "name": "autoimmune Addison disease", "description": "" }, { "id": "MONDO:0015129", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015129", "name": "autoimmune adrenalitis", "description": "" }, { "id": "MONDO:0015129", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015129", "name": "chronic adrenocorticoid insufficiency", "description": "" }, { "id": "MONDO:0015129", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015129", "name": "classic Addison's disease", "description": "" }, { "id": "MONDO:0015129", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015129", "name": "hypoadrenocorticism, familial", "description": "" }, { "id": "MONDO:0015129", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015129", "name": "primary Addison's disease", "description": "" }, { "id": "MONDO:0015129", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015129", "name": "primary adrenal insufficiency, chronic", "description": "" }, { "id": "MONDO:0015129", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015129", "name": "primary adrenocortical insufficiency", "description": "" }, { "id": "MONDO:0015129", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015129", "name": "primary hypoadrenalism", "description": "" }, { "id": "MONDO:0015129", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015129", "name": "autoimmune primary adrenal insufficiency", "description": "" }, { "id": "MONDO:0015129", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015129", "name": "adrenal aplasia", "description": "" }, { "id": "MONDO:0015129", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015129", "name": "adrenal gland hypofunction", "description": "" }, { "id": "MONDO:0015129", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015129", "name": "adrenal hypoplasia", "description": "" }, { "id": "MONDO:0015129", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015129", "name": "hypoadrenocorticism familial", "description": "" }, { "id": "MONDO:0007071", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007071", "name": "adrenocortical hypofunction, chronic primary congenital", "description": "" }, { "id": "MONDO:0007071", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007071", "name": "adrenocortical hypofunction, chronic primary congenital", "description": "" }, { "id": "MONDO:0007071", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007071", "name": "Addison disease, congenital", "description": "" } ], "evidence": [ { "id": "13774", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13774" } ] }, { "disease_id": "DOID:1389", "recommended_name": { "id": "DOID:1389", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1389", "name": "polyneuropathy", "description": "A peripheral system disease that is characterized by damage affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, pins-and-needles, and burning pain." }, "synonyms": [], "evidence": [ { "id": "1389", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1389" } ] }, { "disease_id": "DOID:1395", "recommended_name": { "id": "DOID:1395", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1395", "name": "schistosomiasis", "description": "A parasitic helminthiasis infectious disease that involves infection of the intestine, urinary tract, skin, liver and spleen caused by multiple species of the trematode fluke of the genus Schistosoma. The symptoms include fever, chills, nausea, abdominal pain, diarrhea, malaise, myalgia, liver and spleen enlargement, rash and hematuria." }, "synonyms": [], "evidence": [ { "id": "1395", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1395" } ] }, { "disease_id": "DOID:14040", "recommended_name": { "id": "DOID:14040", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14040", "name": "autoimmune polyendocrine syndrome", "description": "An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs." }, "synonyms": [ { "id": "DOID:14040", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14040", "name": "Autoimmune polyglandular failure", "description": "" }, { "id": "DOID:14040", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14040", "name": "Lloyd's syndrome", "description": "" }, { "id": "DOID:14040", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14040", "name": "autoimmune polyendocrinopathy", "description": "" } ], "evidence": [ { "id": "14040", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:14040" } ] }, { "disease_id": "DOID:14115", "recommended_name": { "id": "DOID:14115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities." }, "synonyms": [ { "id": "DOID:14115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14115", "name": "TSS", "description": "" }, { "id": "DOID:14115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14115", "name": "toxic shock", "description": "" } ], "evidence": [ { "id": "14115", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "evidence": [ { "id": "14330", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] }, { "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:1495", "recommended_name": { "id": "DOID:1495", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1495", "name": "cystic echinococcosis", "description": "An echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce chest pain, cough, and hemoptysis. Rupture of the cysts produce fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. Brain, bone, heart can also be infected." }, "synonyms": [ { "id": "DOID:1495", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1495", "name": "echinococcus granulosus infectious disease of thyroid", "description": "" }, { "id": "DOID:1495", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1495", "name": "Echinococcus granulosus infection", "description": "" }, { "id": "DOID:1495", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1495", "name": "Echinococcus granulosus infection of lung", "description": "" }, { "id": "DOID:1495", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1495", "name": "Echinococcus granulosus infection of thyroid", "description": "" }, { "id": "DOID:1495", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1495", "name": "Liver echinococcus granulosus", "description": "" }, { "id": "DOID:1495", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1495", "name": "Thyroid echinococcus granulosus", "description": "" }, { "id": "DOID:1495", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1495", "name": "echinococcus granulosus", "description": "" }, { "id": "DOID:1495", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1495", "name": "echinococcus granulosus infectious disease", "description": "" }, { "id": "DOID:1495", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1495", "name": "lung echinococcus granulosus", "description": "" }, { "id": "DOID:1495", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1495", "name": "unilocular echinococcosis", "description": "" }, { "id": "DOID:1495", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1495", "name": "unilocular hydatid disease", "description": "" }, { "id": "DOID:1495", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1495", "name": "echinococcus granulosus infectious disease of liver", "description": "" } ], "evidence": [ { "id": "1495", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1495" } ] }, { "disease_id": "DOID:1555", "recommended_name": { "id": "DOID:1555", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1555", "name": "urticaria", "description": "A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis." }, "synonyms": [], "evidence": [ { "id": "1555", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1555" } ] }, { "disease_id": "DOID:1586", "recommended_name": { "id": "DOID:1586", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1586", "name": "rheumatic fever", "description": "A connective tissue disease that develops from an antecedent Group A Streptococcal pharyngeal infection and has_symptom carditis, has_symptom polyarthritis, has_symptom chorea, has_symptom erythema marginatum, has_symptom subcutaneous nodules, has_symptom arthralgia, has_symptom prolonged PR interval, and/or has_symptom fever." }, "synonyms": [ { "id": "DOID:1586", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1586", "name": "ACUTE RHEUMATIC FEVER", "description": "" }, { "id": "DOID:1586", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1586", "name": "RhF - Rheumatic fever", "description": "" } ], "evidence": [ { "id": "1586", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1586" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "evidence": [ { "id": "1612", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:1686", "recommended_name": { "id": "DOID:1686", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1686", "name": "glaucoma", "description": "An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function." }, "synonyms": [], "evidence": [ { "id": "1686", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1686" } ] }, { "disease_id": "DOID:1883", "recommended_name": { "id": "DOID:1883", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1883", "name": "hepatitis C", "description": "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepacivirus hominis, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice." }, "synonyms": [ { "id": "DOID:1883", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1883", "name": "NANBH", "description": "" }, { "id": "DOID:1883", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1883", "name": "Viral hepatitis C", "description": "" }, { "id": "DOID:1883", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1883", "name": "chronic hepatitis C", "description": "" }, { "id": "DOID:1883", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1883", "name": "hepatitis C infection", "description": "" }, { "id": "DOID:1883", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1883", "name": "hepatitis nonA nonB", "description": "" }, { "id": "MONDO:0005231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005231", "name": "hepatitis C virus infection", "description": "A viral infection caused by the hepatitis C virus." }, { "id": "MONDO:0005231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005231", "name": "Hepatitis C virus caused hepatitis", "description": "" }, { "id": "MONDO:0005231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005231", "name": "Hepatitis C virus hepatitis", "description": "" }, { "id": "MONDO:0005231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005231", "name": "NANBH", "description": "" }, { "id": "MONDO:0005231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005231", "name": "hepatitis C infection", "description": "" }, { "id": "MONDO:0005231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005231", "name": "hepatitis Nona nonB", "description": "" }, { "id": "MONDO:0005231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005231", "name": "hepatitis type C", "description": "" }, { "id": "MONDO:0005231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005231", "name": "non-A, non-B Hepatitis", "description": "" }, { "id": "MONDO:0005231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005231", "name": "viral hepatitis C", "description": "" }, { "id": "MONDO:0005231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005231", "name": "chronic hepatitis C", "description": "" } ], "evidence": [ { "id": "1883", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1883" } ] }, { "disease_id": "DOID:2048", "recommended_name": { "id": "DOID:2048", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2048", "name": "autoimmune hepatitis", "description": "An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells." }, "synonyms": [ { "id": "DOID:2048", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2048", "name": "Autoimmune chronic active hepatitis", "description": "" }, { "id": "DOID:2048", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2048", "name": "autoimmune hepatitis with centrilobular necrosis", "description": "" } ], "evidence": [ { "id": "2048", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2048" } ] }, { "disease_id": "DOID:2377", "recommended_name": { "id": "DOID:2377", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring." }, "synonyms": [ { "id": "DOID:2377", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2377", "name": "Generalized multiple sclerosis", "description": "" }, { "id": "DOID:2377", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2377", "name": "insular sclerosis", "description": "" }, { "id": "MONDO:0012957", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012957", "name": "multiple sclerosis, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012957", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012957", "name": "MS3", "description": "" }, { "id": "MONDO:0012957", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012957", "name": "multiple sclerosis, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012956", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012956", "name": "multiple sclerosis, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012956", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012956", "name": "MS2", "description": "" }, { "id": "MONDO:0012956", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012956", "name": "multiple sclerosis, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012958", "name": "multiple sclerosis, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012958", "name": "MS4", "description": "" }, { "id": "MONDO:0012958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012958", "name": "multiple sclerosis, susceptibility to, 4", "description": "" }, { "id": "MIM:612595", "resource": "MIM", "url": "https://www.omim.org/entry/612595", "name": "Multiple sclerosis 3", "description": "Multiple sclerosis 3" } ], "evidence": [ { "id": "2377", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ] }, { "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:289", "recommended_name": { "id": "DOID:289", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body." }, "synonyms": [], "evidence": [ { "id": "289", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:289" } ] }, { "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:2957", "recommended_name": { "id": "DOID:2957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis." }, "synonyms": [], "evidence": [ { "id": "2957", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ] }, { "disease_id": "DOID:2988", "recommended_name": { "id": "DOID:2988", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2988", "name": "antiphospholipid syndrome", "description": "An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin)." }, "synonyms": [ { "id": "DOID:2988", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2988", "name": "antiphospholipid antibody syndrome", "description": "" }, { "id": "MONDO:8000014", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:8000014", "name": "familial antiphospholipid syndrome", "description": "Autosomal dominant form of antiphospholipid syndrome." }, { "id": "MONDO:8000014", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:8000014", "name": "Hughes syndrome", "description": "" }, { "id": "MONDO:8000014", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:8000014", "name": "antiphospholipid syndrome, familial", "description": "" } ], "evidence": [ { "id": "2988", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2988" } ] }, { "disease_id": "DOID:3459", "recommended_name": { "id": "DOID:3459", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3459", "name": "breast carcinoma", "description": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." }, "synonyms": [ { "id": "DOID:3459", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3459", "name": "Mammary carcinoma", "description": "" }, { "id": "DOID:3459", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3459", "name": "carcinoma of breast", "description": "" } ], "evidence": [ { "id": "3459", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3459" } ] }, { "disease_id": "DOID:3492", "recommended_name": { "id": "DOID:3492", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3492", "name": "mixed connective tissue disease", "description": "A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen." }, "synonyms": [ { "id": "DOID:3492", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3492", "name": "Connective tissue disease overlap syndrome", "description": "" }, { "id": "DOID:3492", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3492", "name": "mixed collagen vascular disease", "description": "" } ], "evidence": [ { "id": "3492", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3492" } ] }, { "disease_id": "DOID:399", "recommended_name": { "id": "DOID:399", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes." }, "synonyms": [], "evidence": [ { "id": "399", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:399" } ] }, { "disease_id": "DOID:401", "recommended_name": { "id": "DOID:401", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:401", "name": "multidrug-resistant tuberculosis", "description": "A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs." }, "synonyms": [], "evidence": [ { "id": "401", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:401" } ] }, { "disease_id": "DOID:417", "recommended_name": { "id": "DOID:417", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:417", "name": "autoimmune disease", "description": "An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues." }, "synonyms": [ { "id": "DOID:417", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:417", "name": "hypersensitivity reaction type II disease", "description": "" }, { "id": "DOID:417", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:417", "name": "autoimmune hypersensitivity disease", "description": "" }, { "id": "MONDO:0007179", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007179", "name": "autoimmune disease", "description": "A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis)." }, { "id": "MONDO:0007179", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007179", "name": "autoimmune disease", "description": "" }, { "id": "MONDO:0007179", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007179", "name": "autoimmune disease or disorder", "description": "" }, { "id": "MONDO:0007179", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007179", "name": "autoimmune disorder", "description": "" }, { "id": "MONDO:0007179", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007179", "name": "disease, autoimmune", "description": "" }, { "id": "MONDO:0007179", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007179", "name": "autoimmune hypersensitivity disease", "description": "" }, { "id": "MONDO:0007179", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007179", "name": "hypersensitivity reaction type II disease", "description": "" } ], "evidence": [ { "id": "417", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:417" } ] }, { "disease_id": "DOID:437", "recommended_name": { "id": "DOID:437", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:437", "name": "myasthenia gravis", "description": "An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath." }, "synonyms": [ { "id": "MONDO:0009688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009688", "name": "myasthenia gravis", "description": "Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles." }, { "id": "MONDO:0009688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009688", "name": "acquired myasthenia", "description": "" }, { "id": "MONDO:0009688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009688", "name": "autoimmune myasthenia gravis", "description": "" }, { "id": "MONDO:0009688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009688", "name": "myasthenia gravis", "description": "" }, { "id": "MONDO:0009688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009688", "name": "MG", "description": "" } ], "evidence": [ { "id": "437", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:437" } ] }, { "disease_id": "DOID:4450", "recommended_name": { "id": "DOID:4450", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney." }, "synonyms": [ { "id": "DOID:4450", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4450", "name": "RCC", "description": "" }, { "id": "DOID:4450", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4450", "name": "adenocarcinoma of kidney", "description": "" }, { "id": "DOID:4450", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4450", "name": "hypernephroma", "description": "" }, { "id": "MONDO:0010456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010456", "name": "renal cell carcinoma, Xp11-associated", "description": "" }, { "id": "MONDO:0010456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010456", "name": "renal cell carcinoma, Xp11-associated", "description": "" }, { "id": "MONDO:0010456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010456", "name": "renal cell carcinoma, papillary, 1", "description": "" }, { "id": "MONDO:0010456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010456", "name": "RCCX1", "description": "" } ], "evidence": [ { "id": "4450", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ] }, { "disease_id": "DOID:4780", "recommended_name": { "id": "DOID:4780", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4780", "name": "anti-basement membrane glomerulonephritis", "description": "A Goodpasture syndrome that is characterized by damage to only kidney capillaries." }, "synonyms": [ { "id": "DOID:4780", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4780", "name": "anti-GBM glomerulonephritis", "description": "" } ], "evidence": [ { "id": "4780", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4780" } ] }, { "disease_id": "DOID:5082", "recommended_name": { "id": "DOID:5082", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5082", "name": "liver cirrhosis", "description": "" }, "synonyms": [ { "id": "DOID:5082", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5082", "name": "Cirrhosis", "description": "" }, { "id": "DOID:5082", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5082", "name": "cirrhosis of liver", "description": "" }, { "id": "MONDO:0005155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005155", "name": "cirrhosis of liver", "description": "A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholism, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy." }, { "id": "MONDO:0005155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005155", "name": "cirrhosis", "description": "" }, { "id": "MONDO:0005155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005155", "name": "cirrhosis of liver", "description": "" }, { "id": "MONDO:0005155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005155", "name": "liver cirrhosis", "description": "" } ], "evidence": [ { "id": "5082", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ] }, { "disease_id": "DOID:526", "recommended_name": { "id": "DOID:526", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands." }, "synonyms": [ { "id": "DOID:526", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:526", "name": "HIV infection", "description": "" } ], "evidence": [ { "id": "526", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:526" } ] }, { "disease_id": "DOID:633", "recommended_name": { "id": "DOID:633", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:633", "name": "myositis", "description": "A myopathy characterized by muscle inflammation." }, "synonyms": [ { "id": "DOID:633", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:633", "name": "Inflammatory disorder of muscle", "description": "" }, { "id": "MONDO:0600024", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0600024", "name": "familial idiopathic inflammatory myopathy", "description": "An instance of myositis that is caused by an inherited genomic modification in an individual, and has an unknown cause." }, { "id": "MONDO:0600024", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0600024", "name": "familial idiopathic myositis", "description": "" } ], "evidence": [ { "id": "633", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:633" } ] }, { "disease_id": "DOID:639", "recommended_name": { "id": "DOID:639", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:639", "name": "acute disseminated encephalomyelitis", "description": "An encephalomyelitis characterized by inflammation located in brain and located in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection." }, "synonyms": [ { "id": "DOID:639", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:639", "name": "ADEM", "description": "" }, { "id": "DOID:639", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:639", "name": "acute disseminated encephalitis", "description": "" } ], "evidence": [ { "id": "639", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:639" } ] }, { "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:7188", "recommended_name": { "id": "DOID:7188", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7188", "name": "autoimmune thyroiditis", "description": "An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues." }, "synonyms": [ { "id": "DOID:7188", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7188", "name": "Chronic Lymphocytic Thyroiditis", "description": "" }, { "id": "DOID:7188", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7188", "name": "Hashimoto thyroiditis", "description": "" }, { "id": "DOID:7188", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7188", "name": "Hashimoto's Disease", "description": "" }, { "id": "DOID:7188", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7188", "name": "Hashimoto's syndrome", "description": "" }, { "id": "DOID:7188", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7188", "name": "Hashimoto's thyroiditis", "description": "" }, { "id": "DOID:7188", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7188", "name": "Lymphocytic Thyroiditis", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "Hashimoto thyroiditis", "description": "An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism." }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "lymphocytic thyroiditis", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "Hashimoto disease", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "Hashimoto hypothyroidism", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "Hashimoto thyroiditis", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "Hashimoto's disease", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "Hashimoto's syndrome", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "Hashimoto's thyroiditis", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "chronic lymphocytic thyroiditis", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "HT", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "Hashimoto struma", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "Hashimoto syndrome", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "Hashimoto thyroiditides", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "Hashimoto's struma", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "Hashimoto's syndromes", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "Hashimotos disease", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "Hashimotos syndrome", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "Ht", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "autoimmune thyroiditis", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "chronic lymphocytic thyroiditides", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "disease, Hashimoto", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "disease, Hashimoto's", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "hypothyroidism, autoimmune", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "hypothyroidism, autoimmune thyroid autoantibodies, included", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "lymphocytic thyroiditides, chronic", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "lymphocytic thyroiditis, chronic", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "syndrome, Hashimoto's", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "syndromes, Hashimoto's", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "thyroid autoantibodies", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "thyroiditides, Hashimoto", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "thyroiditides, chronic lymphocytic", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "thyroiditis, Hashimoto", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "thyroiditis, chronic lymphocytic", "description": "" } ], "evidence": [ { "id": "7188", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:7188" } ] }, { "disease_id": "DOID:750", "recommended_name": { "id": "DOID:750", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:750", "name": "peptic ulcer disease", "description": "" }, "synonyms": [ { "id": "DOID:750", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:750", "name": "acute peptic ulcer with hemorrhage", "description": "" }, { "id": "DOID:750", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:750", "name": "acute peptic ulcer with hemorrhage and perforation", "description": "" }, { "id": "DOID:750", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:750", "name": "acute peptic ulcer without hemorrhage and without perforation", "description": "" } ], "evidence": [ { "id": "750", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:750" } ] }, { "disease_id": "DOID:7693", "recommended_name": { "id": "DOID:7693", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta." }, "synonyms": [ { "id": "DOID:7693", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7693", "name": "AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1", "description": "" }, { "id": "MONDO:0012343", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012343", "name": "aortic aneurysm, familial abdominal, 2", "description": "" }, { "id": "MONDO:0012343", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012343", "name": "AAA2", "description": "" }, { "id": "MONDO:0012343", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012343", "name": "aortic aneurysm, familial abdominal 2", "description": "" }, { "id": "MONDO:0012343", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012343", "name": "aortic aneurysm, familial abdominal, 2", "description": "" }, { "id": "MONDO:0024521", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024521", "name": "aortic aneurysm, familial abdominal, 1", "description": "" }, { "id": "MONDO:0024521", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024521", "name": "AAA1", "description": "" }, { "id": "MONDO:0024521", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024521", "name": "aortic aneurysm, familial abdominal 1", "description": "" }, { "id": "MONDO:0024521", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024521", "name": "aortic aneurysm, familial abdominal, 1", "description": "" }, { "id": "MONDO:0024521", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024521", "name": "abdominal aortic aneurysm", "description": "" }, { "id": "MONDO:0024521", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024521", "name": "aneurysm, abdominal aortic", "description": "" }, { "id": "MONDO:0013716", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013716", "name": "aortic aneurysm, familial abdominal, 4", "description": "" }, { "id": "MONDO:0013716", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013716", "name": "AAA4", "description": "" }, { "id": "MONDO:0013716", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013716", "name": "aortic aneurysm, familial abdominal, 4", "description": "" }, { "id": "MONDO:0012751", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012751", "name": "aortic aneurysm, familial abdominal, 3", "description": "" }, { "id": "MONDO:0012751", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012751", "name": "AAA3", "description": "" }, { "id": "MONDO:0012751", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012751", "name": "aneurysm, familial abdominal 3", "description": "" }, { "id": "MONDO:0012751", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012751", "name": "aortic aneurysm, familial abdominal, 3", "description": "" } ], "evidence": [ { "id": "7693", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ] }, { "disease_id": "DOID:8568", "recommended_name": { "id": "DOID:8568", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8568", "name": "infectious mononucleosis", "description": "A viral infectious disease that results in inflammation, located in pharynx, has_material_basis_in Human herpesvirus 4 and has symptom fever, has symptom fatigue, has symptom lymphadenopathy, and has symptom splenomegaly." }, "synonyms": [ { "id": "DOID:8568", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8568", "name": "Filatov's disease", "description": "" }, { "id": "DOID:8568", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8568", "name": "Gammaherpesviral mononucleosis", "description": "" }, { "id": "DOID:8568", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8568", "name": "Monocytic angina", "description": "" }, { "id": "DOID:8568", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8568", "name": "Pfeiffer's disease", "description": "" }, { "id": "DOID:8568", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8568", "name": "glandular fever", "description": "" }, { "id": "DOID:8568", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8568", "name": "mononucleosis", "description": "" } ], "evidence": [ { "id": "8568", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8568" } ] }, { "disease_id": "DOID:8869", "recommended_name": { "id": "DOID:8869", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8869", "name": "neuromyelitis optica", "description": "A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis)." }, "synonyms": [ { "id": "DOID:8869", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8869", "name": "Devic's disease", "description": "" }, { "id": "DOID:8869", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8869", "name": "Devic's syndrome", "description": "" } ], "evidence": [ { "id": "8869", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8869" } ] }, { "disease_id": "DOID:8924", "recommended_name": { "id": "DOID:8924", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8924", "name": "autoimmune thrombocytopenic purpura", "description": "A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies." }, "synonyms": [ { "id": "DOID:8924", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8924", "name": "Immune thrombocytopenic purpura", "description": "" }, { "id": "DOID:8924", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8924", "name": "idiopathic thrombocytopenic purpura", "description": "" }, { "id": "DOID:8924", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8924", "name": "primary thrombocytopenic purpura", "description": "" }, { "id": "MONDO:0008558", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008558", "name": "autoimmune thrombocytopenic purpura", "description": "An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin." }, { "id": "MONDO:0008558", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008558", "name": "ITP", "description": "" }, { "id": "MONDO:0008558", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008558", "name": "autoimmune thrombocytopenic purpura", "description": "" }, { "id": "MONDO:0008558", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008558", "name": "idiopathic thrombocytopenia", "description": "" }, { "id": "MONDO:0008558", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008558", "name": "idiopathic thrombocytopenia purpura", "description": "" }, { "id": "MONDO:0008558", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008558", "name": "idiopathic thrombocytopenic purpura", "description": "" }, { "id": "MONDO:0008558", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008558", "name": "immune thrombocytopenia", "description": "" }, { "id": "MONDO:0008558", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008558", "name": "primary thrombocytopenic purpura", "description": "" }, { "id": "MONDO:0008558", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008558", "name": "thrombocytopenic purpura, autoimmune", "description": "" }, { "id": "MONDO:0008558", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008558", "name": "AITP", "description": "" }, { "id": "MONDO:0008558", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008558", "name": "Werlhof's disease", "description": "" }, { "id": "MONDO:0008558", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008558", "name": "ideopath thrombocytopenic pur", "description": "" }, { "id": "MONDO:0008558", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008558", "name": "idiopathic purpura", "description": "" }, { "id": "MONDO:0008558", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008558", "name": "immune thrombocytopenic purpura", "description": "" }, { "id": "MONDO:0008558", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008558", "name": "thrombocytopenic purpura autoimmune", "description": "" } ], "evidence": [ { "id": "8924", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8924" } ] }, { "disease_id": "DOID:8929", "recommended_name": { "id": "DOID:8929", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8929", "name": "atrophic gastritis", "description": "" }, "synonyms": [ { "id": "DOID:8929", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8929", "name": "gastric atrophy", "description": "" } ], "evidence": [ { "id": "8929", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8929" } ] }, { "disease_id": "DOID:8947", "recommended_name": { "id": "DOID:8947", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8947", "name": "diabetic retinopathy", "description": "" }, "synonyms": [ { "id": "DOID:8947", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8947", "name": "Retinal abnormality - diabetes-related", "description": "" } ], "evidence": [ { "id": "8947", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ] }, { "disease_id": "DOID:8986", "recommended_name": { "id": "DOID:8986", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8986", "name": "narcolepsy", "description": "A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work." }, "synonyms": [ { "id": "DOID:8986", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8986", "name": "Narcolepsy, without cataplexy", "description": "" }, { "id": "DOID:8986", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8986", "name": "paroxysmal sleep", "description": "" }, { "id": "MONDO:0013652", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013652", "name": "narcolepsy 7", "description": "Any narcolepsy in which the cause of the disease is a mutation in the MOG gene." }, { "id": "MONDO:0013652", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013652", "name": "MOG narcolepsy", "description": "" }, { "id": "MONDO:0013652", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013652", "name": "narcolepsy 7", "description": "" }, { "id": "MONDO:0013652", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013652", "name": "narcolepsy caused by mutation in MOG", "description": "" }, { "id": "MONDO:0013652", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013652", "name": "narcolepsy type 7", "description": "" }, { "id": "MONDO:0013652", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013652", "name": "NRCLP7", "description": "" }, { "id": "MONDO:0011607", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011607", "name": "narcolepsy 2, susceptibility to", "description": "" }, { "id": "MONDO:0011607", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011607", "name": "NRCLP2", "description": "" }, { "id": "MONDO:0011607", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011607", "name": "narcolepsy 2, susceptibility to", "description": "" }, { "id": "MONDO:0011607", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011607", "name": "narcolepsy 2", "description": "" }, { "id": "MONDO:0013020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013020", "name": "narcolepsy 5, susceptibility to", "description": "" }, { "id": "MONDO:0013020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013020", "name": "NRCLP5", "description": "" }, { "id": "MONDO:0013020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013020", "name": "narcolepsy 5, susceptibility to", "description": "" }, { "id": "MONDO:0013020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013020", "name": "narcolepsy 5", "description": "" }, { "id": "MONDO:0012898", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012898", "name": "narcolepsy 4, susceptibility to", "description": "" }, { "id": "MONDO:0012898", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012898", "name": "NRCLP4", "description": "" }, { "id": "MONDO:0012898", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012898", "name": "narcolepsy 4, susceptibility to", "description": "" }, { "id": "MONDO:0012898", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012898", "name": "narcolepsy 4", "description": "" }, { "id": "MONDO:0012179", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012179", "name": "narcolepsy 3", "description": "" }, { "id": "MONDO:0012179", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012179", "name": "NRCLP3", "description": "" }, { "id": "MONDO:0012179", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012179", "name": "narcolepsy 3", "description": "" }, { "id": "MONDO:0013639", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013639", "name": "narcolepsy 6, susceptibility to", "description": "" }, { "id": "MONDO:0013639", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013639", "name": "NRCLP6", "description": "" }, { "id": "MONDO:0013639", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013639", "name": "narcolepsy 6, susceptibility to", "description": "" }, { "id": "MONDO:0013639", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013639", "name": "narcolepsy 6", "description": "" }, { "id": "MONDO:0008062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008062", "name": "narcolepsy 1", "description": "A rare disorder characterized by sudden and transient episodes of loss of muscle tone. It often follows an experience of intense emotions. It is seen in patients with narcolepsy." }, { "id": "MONDO:0008062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008062", "name": "HCRT narcolepsy", "description": "" }, { "id": "MONDO:0008062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008062", "name": "narcolepsy 1", "description": "" }, { "id": "MONDO:0008062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008062", "name": "narcolepsy caused by mutation in HCRT", "description": "" }, { "id": "MONDO:0008062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008062", "name": "narcolepsy type 1", "description": "" }, { "id": "MONDO:0008062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008062", "name": "NRCLP1", "description": "" }, { "id": "MONDO:0008062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008062", "name": "cataplexy", "description": "" }, { "id": "MONDO:0008062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008062", "name": "narcoleptic syndrome 1", "description": "" }, { "id": "MIM:614250", "resource": "MIM", "url": "https://www.omim.org/entry/614250", "name": "Narcolepsy 7", "description": "Narcolepsy 7" }, { "id": "MIM:161400", "resource": "MIM", "url": "https://www.omim.org/entry/161400", "name": "Narcolepsy 1", "description": "Narcolepsy 1" } ], "evidence": [ { "id": "8986", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8986" } ] }, { "disease_id": "DOID:8991", "recommended_name": { "id": "DOID:8991", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8991", "name": "cervix uteri carcinoma in situ", "description": "An uterus carcinoma in situ that is located_in the uterine cervix." }, "synonyms": [ { "id": "DOID:8991", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8991", "name": "CIN III", "description": "" }, { "id": "DOID:8991", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8991", "name": "CIN III - carcinoma in situ of cervix", "description": "" }, { "id": "DOID:8991", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8991", "name": "CIN III - severe dyskaryosis", "description": "" }, { "id": "DOID:8991", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8991", "name": "Cervix Ca in situ", "description": "" }, { "id": "DOID:8991", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8991", "name": "Severe Dysplasia of the Cervix Uteri", "description": "" }, { "id": "DOID:8991", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8991", "name": "Severe dysplasia of cervix", "description": "" }, { "id": "DOID:8991", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8991", "name": "cervical intraepithelial neoplasia grade III with severe dysplasia", "description": "" }, { "id": "DOID:8991", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8991", "name": "carcinoma in situ of cervix", "description": "" }, { "id": "DOID:8991", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8991", "name": "carcinoma in situ of uterine cervix", "description": "" }, { "id": "DOID:8991", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8991", "name": "carcinoma of cervix stage 0", "description": "" }, { "id": "DOID:8991", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8991", "name": "squamous intraepithelial neoplasia, grade III", "description": "" } ], "evidence": [ { "id": "8991", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8991" } ] }, { "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:9182", "recommended_name": { "id": "DOID:9182", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9182", "name": "pemphigus", "description": "An autoimmune disease of skin and connective tissue that is characterized by blistering of the outer layer of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals), causing lesions and blisters that are easily ruptured." }, "synonyms": [], "evidence": [ { "id": "9182", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9182" } ] }, { "disease_id": "DOID:9415", "recommended_name": { "id": "DOID:9415", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9415", "name": "allergic asthma", "description": "An extrinsic asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness." }, "synonyms": [ { "id": "DOID:9415", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9415", "name": "extrinsic asthma with acute exacerbation", "description": "" }, { "id": "DOID:9415", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9415", "name": "extrinsic asthma with status asthmaticus", "description": "" } ], "evidence": [ { "id": "9415", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9415" } ] }, { "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:9849", "recommended_name": { "id": "DOID:9849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9849", "name": "Meniere's disease", "description": "A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss." }, "synonyms": [ { "id": "DOID:9849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9849", "name": "Meniere disease", "description": "" }, { "id": "DOID:9849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9849", "name": "Mnire's vertigo", "description": "" }, { "id": "DOID:9849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9849", "name": "Otogenic vertigo", "description": "" }, { "id": "MONDO:0007972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007972", "name": "Meniere disease", "description": "A disease of the inner ear (labyrinth) that is characterized by fluctuating sensorineural hearing loss; tinnitus; episodic vertigo; and aural fullness. It is the most common form of endolymphatic hydrops." }, { "id": "MONDO:0007972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007972", "name": "Meniere disease", "description": "" }, { "id": "MONDO:0007972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007972", "name": "Mnire's vertigo", "description": "" }, { "id": "MONDO:0007972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007972", "name": "otogenic vertigo", "description": "" }, { "id": "MONDO:0007972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007972", "name": "Meniere's disease", "description": "" } ], "evidence": [ { "id": "9849", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9849" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "A0A023IKK2", "url": "https://www.uniprot.org/uniprot/A0A023IKK2" } ], "common_name": "Rat" } ], "gene": [ { "name": "RT1-Db2", "url": "https://www.uniprot.org/uniprot/A0A023IKK2", "locus": { "chromosome": "20", "start_pos": 4520713, "end_pos": 4539705, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSRNOG00000030431", "url": "https://www.ensembl.org/id/ENSRNOG00000030431" } ] } } ], "crossref": [ { "id": "ENSRNOG00000030431", "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000030431", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "24981", "url": "https://www.ncbi.nlm.nih.gov/gene/24981", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "IPR000353", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000353", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003006", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003006", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003597", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003597", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR007110", "url": "https://www.ebi.ac.uk/interpro/entry/IPR007110", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011162", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011162", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013783", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013783", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR014745", "url": "https://www.ebi.ac.uk/interpro/entry/IPR014745", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036179", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036179", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "GSAQNKM", "url": "https://omabrowser.org/oma/group/GSAQNKM/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3785866at2759", "url": "http://www.orthodb.org/?query=3785866at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR19944", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19944", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR19944:SF66", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19944:SF66", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00969", "url": "http://pfam.xfam.org/family/PF00969", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07654", "url": "http://pfam.xfam.org/family/PF07654", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-202424", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-202424", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-202427", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-202427", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-202430", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-202430", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-202433", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-202433", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-2132295", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-389948", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-389948", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "XP_006255973", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_006255973", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "1595922", "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1595922", "database": "RGD", "categories": [ "Organism-specific" ] }, { "id": "A0A023IKK2", "url": "https://www.uniprot.org/uniprot/A0A023IKK2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A023IKK2-1", "url": "https://www.uniprot.org/uniprot/A0A023IKK2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8J8YBX6", "url": "https://www.uniprot.org/uniprot/A0A8J8YBX6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8J8YBX6-1", "url": "https://www.uniprot.org/uniprot/A0A8J8YBX6-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MVCLWLPRDPCVAAVVLSLLMLSPPVALVRDPRPRFLEQLKAECHYVKGREHVWSVTRFIYNQEEFARFDSVFGKFLAVTELGRPIAEYLNTQKDMLDNYRASVDRCRNNYDLVDIFMSNLKAKPKVTVYPSKTQPLEYHNLLVCSVSDFYPGTIEIRWFRNGEEEKTGVVSTDLISNGDWTYQTLVMLETVPQGGEVYTCQVEHPSLTSPVRVEWRARSTSAQNKMLSGAMGMALGLFILAVGLFIYLRNLRAGSVSHGAGEGAESSTSRLTGSRSECHTGPALSV", "length": 287, "header": "tr|A0A023IKK2-1|A0A023IKK2_RAT Isoform 1 of RT1 class II, locus Db2 OS=Rattus norvegicus OX=10116 GN=RT1-Db2 PE=2 SV=1 CANONICAL=A0A023IKK2-1" }, "isoforms": [ { "isoform_ac": "A0A023IKK2-1", "url": "", "sequence": { "sequence": "MVCLWLPRDPCVAAVVLSLLMLSPPVALVRDPRPRFLEQLKAECHYVKGREHVWSVTRFIYNQEEFARFDSVFGKFLAVTELGRPIAEYLNTQKDMLDNYRASVDRCRNNYDLVDIFMSNLKAKPKVTVYPSKTQPLEYHNLLVCSVSDFYPGTIEIRWFRNGEEEKTGVVSTDLISNGDWTYQTLVMLETVPQGGEVYTCQVEHPSLTSPVRVEWRARSTSAQNKMLSGAMGMALGLFILAVGLFIYLRNLRAGSVSHGAGEGAESSTSRLTGSRSECHTGPALSV", "length": 287, "header": "tr|A0A023IKK2-1|A0A023IKK2_RAT Isoform 1 of RT1 class II, locus Db2 OS=Rattus norvegicus OX=10116 GN=RT1-Db2 PE=2 SV=1 CANONICAL=A0A023IKK2-1" }, "locus": { "chromosome": "20", "start_pos": 4539667, "end_pos": 4521324, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000083085.2", "url": "https://www.ensembl.org/id/ENSRNOT00000083085.2" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000071225.2", "url": "https://www.ensembl.org/id/ENSRNOP00000071225.2" } ] } }, { "isoform_ac": "A0A8J8YBX6-1", "url": "", "sequence": { "sequence": "MVCLWLPRDPCVAAVVLSLLMLSPPVALVRDPRPRFLEQLKAECHYVKGREHVWSVTRFIYNQEEFARFDSVFGKFLAVTELGRPIAEYLNTQKDMLDNYRASVDRCRNNYDLVDIFMSNLKAKPKVTVYPSKTQPLEYHNLLVCSVSDFYPGTIEIRWFRNGEEEKTGVVSTDLISNGDWTYQTLVMLETVPQGGEVYTCQVEHPSLTSPVRVEWRARSTSAQNKMLSGAMGMALGLFILAVGLFIYLRNLRGKEPGGG", "length": 260, "header": "tr|A0A8J8YBX6-1|A0A8J8YBX6_RAT Computationally mapped isoform of RT1 class II, locus Db2 OS=Rattus norvegicus OX=10116 GN=RT1-Db2 PE=3 SV=1 CANONICAL=A0A023IKK2-1" }, "locus": { "chromosome": "20", "start_pos": 4539667, "end_pos": 4525716, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000042571.6", "url": "https://www.ensembl.org/id/ENSRNOT00000042571.6" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000042899.6", "url": "https://www.ensembl.org/id/ENSRNOP00000042899.6" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [], "pathway": [ { "id": "R-RNO-202424", "name": "Downstream TCR signaling", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-202424", "resource": "Reactome", "description": "Downstream TCR signaling" }, { "id": "R-RNO-202427", "name": "Phosphorylation of CD3 and TCR zeta chains", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-202427", "resource": "Reactome", "description": "Phosphorylation of CD3 and TCR zeta chains" }, { "id": "R-RNO-202430", "name": "Translocation of ZAP-70 to Immunological synapse", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-202430", "resource": "Reactome", "description": "Translocation of ZAP-70 to Immunological synapse" }, { "id": "R-RNO-202433", "name": "Generation of second messenger molecules", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-202433", "resource": "Reactome", "description": "Generation of second messenger molecules" }, { "id": "R-RNO-2132295", "name": "MHC class II antigen presentation", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-2132295", "resource": "Reactome", "description": "MHC class II antigen presentation" }, { "id": "R-RNO-389948", "name": "PD-1 signaling", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-389948", "resource": "Reactome", "description": "PD-1 signaling" } ], "orthologs": [ { "uniprot_canonical_ac": "P01911-1", "protein_name": "HLA class II histocompatibility antigen, DRB1 beta chain", "gene_name": "HLA-DRB1", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MVCLKLPGGSCMTALTVTLMVLSSPLALSGDTRPRFLWQPKRECHFFNGTERVRFLDRYFYNQEESVRFDSDVGEFRAVTELGRPDAEYWNSQKDILEQARAAVDTYCRHNYGVVESFTVQRRVQPKVTVYPSKTQPLQHHNLLVCSVSGFYPGSIEVRWFLNGQEEKAGMVSTGLIQNGDWTFQTLVMLETVPRSGEVYTCQVEHPSVTSPLTVEWRARSESAQSKMLSGVGGFVLGLLFLGAGLFIYFRNQKGHSGLQPTGFLS", "length": 266 }, "evidence": [ { "id": "45224207", "url": "http://www.informatics.jax.org/homology/45224207", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "P13762-1", "protein_name": "HLA class II histocompatibility antigen, DR beta 4 chain", "gene_name": "HLA-DRB4", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MVCLKLPGGSCMAALTVTLTVLSSPLALAGDTQPRFLEQAKCECHFLNGTERVWNLIRYIYNQEEYARYNSDLGEYQAVTELGRPDAEYWNSQKDLLERRRAEVDTYCRYNYGVVESFTVQRRVQPKVTVYPSKTQPLQHHNLLVCSVNGFYPGSIEVRWFRNGQEEKAGVVSTGLIQNGDWTFQTLVMLETVPRSGEVYTCQVEHPSMMSPLTVQWSARSESAQSKMLSGVGGFVLGLLFLGTGLFIYFRNQKGHSGLQPTGLLS", "length": 266 }, "evidence": [ { "id": "45224207", "url": "http://www.informatics.jax.org/homology/45224207", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "Q30154-1", "protein_name": "HLA class II histocompatibility antigen, DR beta 5 chain", "gene_name": "HLA-DRB5", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MVCLKLPGGSYMAKLTVTLMVLSSPLALAGDTRPRFLQQDKYECHFFNGTERVRFLHRDIYNQEEDLRFDSDVGEYRAVTELGRPDAEYWNSQKDFLEDRRAAVDTYCRHNYGVGESFTVQRRVEPKVTVYPARTQTLQHHNLLVCSVNGFYPGSIEVRWFRNSQEEKAGVVSTGLIQNGDWTFQTLVMLETVPRSGEVYTCQVEHPSVTSPLTVEWRAQSESAQSKMLSGVGGFVLGLLFLGAGLFIYFKNQKGHSGLHPTGLVS", "length": 266 }, "evidence": [ { "id": "45224207", "url": "http://www.informatics.jax.org/homology/45224207", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "Q3UUV9-1", "protein_name": "Histocompatibility 2, class II antigen E beta2", "gene_name": "H2-Eb2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MVSLWLPRGLCVAAVILSLMMLTPPVILVRDPRPRFLEQLKAECHYFNGKERVWSVTRFIYNQEEFARFNSDFGKFLAVTELGRPIVEYLNTQKDMLDNYRASVDRCRNNYDLVDIFMLNLKAEPKVTVYPAKTQPLEHHNLLVCSVIDFYPGSIEVRWFRNGEEEKTGVVSTGLIQNRDWTYQTLVMLEMVPRGGEVYTCQVEHPSLTSPVTVEWRARSTSAQNKLLSGVMGMALGLFILAVGLFFYLRNLRAGSVSHGAGEGAESFTSRLTGSGSECHMGPGLSI", "length": 287 }, "evidence": [ { "id": "45224207", "url": "http://www.informatics.jax.org/homology/45224207", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "A0A023IKK2", "url": "https://www.uniprot.org/uniprot/A0A023IKK2" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "A0A023IKK2", "url": "https://www.uniprot.org/uniprot/A0A023IKK2" } ], "pmid": "" }, { "name": "MHC class II protein complex", "id": "GO:0042613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042613", "evidence": [ { "database": "UniProtKB", "id": "A0A023IKK2", "url": "https://www.uniprot.org/uniprot/A0A023IKK2" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 5, "go_terms": [ { "name": "antigen processing and presentation of exogenous peptide antigen via MHC class II", "id": "GO:0019886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019886", "evidence": [ { "database": "UniProtKB", "id": "A0A023IKK2", "url": "https://www.uniprot.org/uniprot/A0A023IKK2" } ], "pmid": "" }, { "name": "peptide antigen assembly with MHC class II protein complex", "id": "GO:0002503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002503", "evidence": [ { "database": "UniProtKB", "id": "A0A023IKK2", "url": "https://www.uniprot.org/uniprot/A0A023IKK2" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "A0A023IKK2", "url": "https://www.uniprot.org/uniprot/A0A023IKK2" } ], "pmid": "" }, { "name": "positive regulation of T cell activation", "id": "GO:0050870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050870", "evidence": [ { "database": "UniProtKB", "id": "A0A023IKK2", "url": "https://www.uniprot.org/uniprot/A0A023IKK2" } ], "pmid": "" }, { "name": "positive regulation of immune response", "id": "GO:0050778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050778", "evidence": [ { "database": "UniProtKB", "id": "A0A023IKK2", "url": "https://www.uniprot.org/uniprot/A0A023IKK2" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "MHC class II protein complex binding", "id": "GO:0023026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023026", "evidence": [ { "database": "UniProtKB", "id": "A0A023IKK2", "url": "https://www.uniprot.org/uniprot/A0A023IKK2" } ], "pmid": "" }, { "name": "peptide antigen binding", "id": "GO:0042605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042605", "evidence": [ { "database": "UniProtKB", "id": "A0A023IKK2", "url": "https://www.uniprot.org/uniprot/A0A023IKK2" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], 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