{ "uniprot_canonical_ac": "P05231-1", "uniprot_ac": "P05231", "uniprot_id": "IL6_HUMAN", "mass": { "chemical_mass": 23718.0, "monoisotopic_mass": 23718.0 }, "refseq": { "ac": "NP_000591", "name": "interleukin-6 isoform 1 precursor", "summary": "This gene encodes a cytokine that functions in inflammation and the maturation of B cells. In addition, the encoded protein has been shown to be an endogenous pyrogen capable of inducing fever in people with autoimmune diseases or infections. The protein is primarily produced at sites of acute and chronic inflammation, where it is secreted into the serum and induces a transcriptional inflammatory response through interleukin 6 receptor, alpha. The functioning of this gene is implicated in a wide variety of inflammation-associated disease states, including suspectibility to diabetes mellitus and systemic juvenile rheumatoid arthritis. Elevated levels of the encoded protein have been found in virus infections, including COVID-19 (disease caused by SARS-CoV-2). [provided by RefSeq, Aug 2020].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000591" }, "gene_names": [ { "name": "IL6", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P05231", "id": "P05231" }, { "name": "BSF-2; BSF2; CDF; HGF; HSF; IFN-beta-2; IFNB2; IL-6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000591", "id": "NP_000591" }, { "name": "IFNB2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P05231", "id": "P05231" }, { "name": "IL6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000591", "id": "NP_000591" } ], "protein_names": [ { "name": "Interleukin-6", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprotkb/P05231/entry#names_and_taxonomy", "id": "P05231" }, { "name": "B-cell stimulatory factor 2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprotkb/P05231/entry#names_and_taxonomy", "id": "P05231" }, { "name": "BSF-2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprotkb/P05231/entry#names_and_taxonomy", "id": "P05231" }, { "name": "CDF", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprotkb/P05231/entry#names_and_taxonomy", "id": "P05231" }, { "name": "CTL differentiation factor", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprotkb/P05231/entry#names_and_taxonomy", "id": "P05231" }, { "name": "Hybridoma growth factor", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprotkb/P05231/entry#names_and_taxonomy", "id": "P05231" }, { "name": "IFN-beta-2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprotkb/P05231/entry#names_and_taxonomy", "id": "P05231" }, { "name": "IL-6", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprotkb/P05231/entry#names_and_taxonomy", "id": "P05231" }, { "name": "Interferon beta-2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprotkb/P05231/entry#names_and_taxonomy", "id": "P05231" }, { "name": "hybridoma growth factor; interleukin BSF-2; B-cell differentiation factor; CTL differentiation factor; interferon beta-2; B-cell stimulatory factor 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000591", "id": "NP_000591" }, { "name": "interleukin-6 isoform 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000591", "id": "NP_000591" } ], "function": [ { "annotation": "Acts as an essential factor in bone homeostasis and on vessels directly or indirectly by induction of VEGF, resulting in increased angiogenesis activity and vascular permeability (PubMed:12794819, PubMed:17075861). Induces, through 'trans-signaling' and synergistically with IL1B and TNF, the production of VEGF (PubMed:12794819). Involved in metabolic controls, is discharged into the bloodstream after muscle contraction increasing lipolysis and improving insulin resistance (PubMed:20823453). 'Trans-signaling' in central nervous system also regulates energy and glucose homeostasis (By similarity). Mediates, through GLP-1, crosstalk between insulin-sensitive tissues, intestinal L cells and pancreatic islets to adapt to changes in insulin demand (By similarity). Also acts as a myokine (Probable). Plays a protective role during liver injury, being required for maintenance of tissue regeneration (By similarity). Also has a pivotal role in iron metabolism by regulating HAMP/hepcidin expression upon inflammation or bacterial infection (PubMed:15124018). Through activation of IL6ST-YAP-NOTCH pathway, induces inflammation-induced epithelial regeneration (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P05231", "url": "https://www.uniprot.org/uniprot/P05231#function" }, { "database": "UniProtKB", "id": "P08505", "url": "https://www.uniprot.org/uniprot/P08505#function" }, { "database": "PubMed", "id": "17075861", "url": "https://glygen.org/publication/PubMed/17075861" }, { "database": "PubMed", "id": "20823453", "url": "https://glygen.org/publication/PubMed/20823453" }, { "database": "PubMed", "id": "12794819", "url": "https://glygen.org/publication/PubMed/12794819" }, { "database": "PubMed", "id": "30995492", "url": "https://glygen.org/publication/PubMed/30995492" }, { "database": "PubMed", "id": "15124018", "url": "https://glygen.org/publication/PubMed/15124018" } ] }, { "annotation": "Association of IL-6 G-174C (rs1800795) variant with the susceptibility to hepatocellular carcinoma in patients with chronic hepatitis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000591", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000591" }, { "database": "PubMed", "id": "39428452", "url": "https://glygen.org/publication/PubMed/39428452" } ] }, { "annotation": "Astrocytic DLL4-NOTCH1 signaling pathway promotes neuroinflammation via the IL-6-STAT3 axis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000591", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000591" }, { "database": "PubMed", "id": "39390606", "url": "https://glygen.org/publication/PubMed/39390606" } ] }, { "annotation": "Characterisation of IGF-1 (rs7136446) and IL-6 (rs1800795) polymorphisms among breast cancer patients in western Algeria.", "evidence": [ { "database": "RefSeq", "id": "NP_000591", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000591" }, { "database": "PubMed", "id": "39451175", "url": "https://glygen.org/publication/PubMed/39451175" } ] }, { "annotation": "Cytokine with a wide variety of biological functions in immunity, tissue regeneration, and metabolism. Binds to IL6R, then the complex associates to the signaling subunit IL6ST/gp130 to trigger the intracellular IL6-signaling pathway. The interaction with the membrane-bound IL6R and IL6ST stimulates 'classic signaling', whereas the binding of IL6 and soluble IL6R to IL6ST stimulates 'trans-signaling'. Alternatively, 'cluster signaling' occurs when membrane-bound IL6:IL6R complexes on transmitter cells activate IL6ST receptors on neighboring receiver cells.", "evidence": [ { "database": "UniProtKB", "id": "C9J5B0", "url": "https://www.uniprot.org/uniprot/C9J5B0#function" }, { "database": "UniProtKB", "id": "ARBA00023441", "url": "https://www.uniprot.org/uniprot/ARBA00023441#function" }, { "database": "UniProtKB", "id": "B4DNV3", "url": "https://www.uniprot.org/uniprot/B4DNV3#function" }, { "database": "UniProtKB", "id": "P05231", "url": "https://www.uniprot.org/uniprot/P05231#function" }, { "database": "PubMed", "id": "30995492", "url": "https://glygen.org/publication/PubMed/30995492" }, { "database": "UniProtKB", "id": "B5MCZ3", "url": "https://www.uniprot.org/uniprot/B5MCZ3#function" }, { "database": "UniProtKB", "id": "A0A8Q3SJL1", "url": "https://www.uniprot.org/uniprot/A0A8Q3SJL1#function" }, { "database": "UniProtKB", "id": "B5MC21", "url": "https://www.uniprot.org/uniprot/B5MC21#function" }, { "database": "UniProtKB", "id": "B5MC14", "url": "https://www.uniprot.org/uniprot/B5MC14#function" } ] }, { "annotation": "IL6 is a potent inducer of the acute phase response. Rapid production of IL6 contributes to host defense during infection and tissue injury, but excessive IL6 synthesis is involved in disease pathology. In the innate immune response, is synthesized by myeloid cells, such as macrophages and dendritic cells, upon recognition of pathogens through toll-like receptors (TLRs) at the site of infection or tissue injury (Probable). In the adaptive immune response, is required for the differentiation of B cells into immunoglobulin-secreting cells. Plays a major role in the differentiation of CD4(+) T cell subsets. Essential factor for the development of T follicular helper (Tfh) cells that are required for the induction of germinal-center formation. Required to drive naive CD4(+) T cells to the Th17 lineage. Also required for proliferation of myeloma cells and the survival of plasmablast cells (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P05231", "url": "https://www.uniprot.org/uniprot/P05231#function" }, { "database": "UniProtKB", "id": "P08505", "url": "https://www.uniprot.org/uniprot/P08505#function" }, { "database": "PubMed", "id": "30995492", "url": "https://glygen.org/publication/PubMed/30995492" } ] }, { "annotation": "Interleukin 6 plasma levels are associated with progression of coronary plaques. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000591", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000591" }, { "database": "PubMed", "id": "39304297", "url": "https://glygen.org/publication/PubMed/39304297" } ] }, { "annotation": "This gene encodes a cytokine that functions in inflammation and the maturation of B cells. In addition, the encoded protein has been shown to be an endogenous pyrogen capable of inducing fever in people with autoimmune diseases or infections. The protein is primarily produced at sites of acute and chronic inflammation, where it is secreted into the serum and induces a transcriptional inflammatory response through interleukin 6 receptor, alpha. The functioning of this gene is implicated in a wide variety of inflammation-associated disease states, including suspectibility to diabetes mellitus and systemic juvenile rheumatoid arthritis. Elevated levels of the encoded protein have been found in virus infections, including COVID-19 (disease caused by SARS-CoV-2). [provided by RefSeq, Aug 2020].", "evidence": [ { "database": "RefSeq", "id": "NP_000591", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000591" } ] } ], "disease": [ { "disease_id": "DOID:0050523", "recommended_name": { "id": "DOID:0050523", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050523", "name": "adult T-cell leukemia/lymphoma", "description": "A T-cell acute leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in Human T-lymphotropic virus 1 (HTLV-1), which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions." }, "synonyms": [ { "id": "DOID:0050523", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050523", "name": "adult T-cell leukemia", "description": "" }, { "id": "DOID:0050523", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050523", "name": "Adult T-cell leukemia/lymphoma (HTLV-1 positive)", "description": "" } ], "evidence": [ { "id": "0050523", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050523" } ] }, { "disease_id": "DOID:0050625", "recommended_name": { "id": "DOID:0050625", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050625", "name": "biliary tract benign neoplasm", "description": "A hepatobiliary benign neoplasm located_in the biliary tract." }, "synonyms": [ { "id": "DOID:0050625", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050625", "name": "extrahepatic bile duct neoplasm", "description": "" }, { "id": "DOID:0050625", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050625", "name": "neoplasm of extrahepatic bile ducts", "description": "" }, { "id": "DOID:0050625", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050625", "name": "tumor of the extrahepatic bile duct", "description": "" } ], "evidence": [ { "id": "0050625", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050625" } ] }, { "disease_id": "DOID:0050685", "recommended_name": { "id": "DOID:0050685", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050685", "name": "small cell carcinoma", "description": "A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells." }, "synonyms": [ { "id": "DOID:0050685", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050685", "name": "Small cell carcinoma - intermediate cell", "description": "" }, { "id": "DOID:0050685", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050685", "name": "Small cell carcinoma, intermediate cell", "description": "" }, { "id": "DOID:0050685", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050685", "name": "intermediate cell small cell carcinoma", "description": "" } ], "evidence": [ { "id": "0050685", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050685" } ] }, { "disease_id": "DOID:0050697", "recommended_name": { "id": "DOID:0050697", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050697", "name": "chorioamnionitis", "description": "A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection." }, "synonyms": [], "evidence": [ { "id": "0050697", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050697" } ] }, { "disease_id": "DOID:0050848", "recommended_name": { "id": "DOID:0050848", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050848", "name": "obstructive sleep apnea", "description": "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep." }, "synonyms": [ { "id": "DOID:0050848", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050848", "name": "obstructive sleep apnea syndrome", "description": "" }, { "id": "MONDO:0007147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007147", "name": "obstructive sleep apnea syndrome", "description": "Cessation of air flow during sleep due to upper airway obstruction." }, { "id": "MONDO:0007147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007147", "name": "obstructive sleep apnea", "description": "" }, { "id": "MONDO:0007147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007147", "name": "obstructive sleep apnea syndrome", "description": "" }, { "id": "MONDO:0007147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007147", "name": "Apneas, obstructive sleep", "description": "" }, { "id": "MONDO:0007147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007147", "name": "OSAHS", "description": "" }, { "id": "MONDO:0007147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007147", "name": "Osa", "description": "" }, { "id": "MONDO:0007147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007147", "name": "apnea, obstructive sleep", "description": "" }, { "id": "MONDO:0007147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007147", "name": "obstructive sleep Apneas", "description": "" }, { "id": "MONDO:0007147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007147", "name": "sleep Apneas, obstructive", "description": "" }, { "id": "MONDO:0007147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007147", "name": "sleep apnea hypopnea syndrome", "description": "" }, { "id": "MONDO:0007147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007147", "name": "sleep apnea syndrome, obstructive", "description": "" }, { "id": "MONDO:0007147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007147", "name": "sleep apnea/hypopnea syndrome", "description": "" }, { "id": "MONDO:0007147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007147", "name": "syndrome, obstructive sleep apnea", "description": "" }, { "id": "MONDO:0007147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007147", "name": "syndrome, sleep apnea, obstructive", "description": "" }, { "id": "MONDO:0007147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007147", "name": "syndrome, upper airway resistance, sleep apnea", "description": "" }, { "id": "MONDO:0007147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007147", "name": "upper airway resistance sleep apnea syndrome", "description": "" } ], "evidence": [ { "id": "0050848", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050848" } ] }, { "disease_id": "DOID:0050866", "recommended_name": { "id": "DOID:0050866", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells." }, "synonyms": [ { "id": "DOID:0050866", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050866", "name": "mouth squamous cell carcinoma", "description": "" } ], "evidence": [ { "id": "0050866", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ] }, { "disease_id": "DOID:0060688", "recommended_name": { "id": "DOID:0060688", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060688", "name": "arteriovenous malformations of the brain", "description": "A central nervous system benign neoplasm that derives_from endothelial cells and that is located_in the brain." }, "synonyms": [ { "id": "DOID:0060688", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060688", "name": "cerebral arteriovenous malformation", "description": "" }, { "id": "DOID:0060688", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060688", "name": "intracranial arteriovenous malformation", "description": "" }, { "id": "MONDO:0007154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007154", "name": "arteriovenous malformations of the brain", "description": "Cerebral arteriovenous malformation (AVM) is a congenital malformative communication between the veins and the arteries in the brain in the form of a nidus, an anatomical structure composed of dilated and tangled supplying arterioles and drainage veins with no intervening capillary bed, that can be asymptomatic or cause, depending on the location and the size of the AVM, headaches of varying severity, generalized or focal seizures, focalneurological defects (weakness, numbness, speech difficulties, vision loss) or potentially fatal intracranial hemorrhage in case the AVM ruptures." }, { "id": "MONDO:0007154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007154", "name": "arteriovenous malformation of the brain, somatic", "description": "" }, { "id": "MONDO:0007154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007154", "name": "arteriovenous malformations of the brain", "description": "" }, { "id": "MONDO:0007154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007154", "name": "cerebral arteriovenous malformation", "description": "" }, { "id": "MONDO:0007154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007154", "name": "intracranial arteriovenous malformation", "description": "" }, { "id": "MONDO:0007154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007154", "name": "intracranial haemorrhage in brain cerebrovascular malformations, susceptibility to, somatic mutation", "description": "" }, { "id": "MONDO:0007154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007154", "name": "intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to, somatic mutation", "description": "" }, { "id": "MONDO:0007154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007154", "name": "Bavm", "description": "" }, { "id": "MONDO:0007154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007154", "name": "cerebral arteriovenous malformations", "description": "" }, { "id": "MONDO:0007154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007154", "name": "intracranial AVM", "description": "" }, { "id": "MONDO:0007154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007154", "name": "intracranial haemorrhage in brain arteriovenous malformations, susceptibility to", "description": "" }, { "id": "MONDO:0007154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007154", "name": "intracranial hemorrhage in brain arteriovenous malformations, susceptibility to", "description": "" } ], "evidence": [ { "id": "0060688", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060688" } ] }, { "disease_id": "DOID:0060901", "recommended_name": { "id": "DOID:0060901", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060901", "name": "lymphoplasmacytic lymphoma", "description": "A B-cell lymphoma characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein." }, "synonyms": [ { "id": "DOID:0060901", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060901", "name": "Waldenstroem's macroglobulinemia", "description": "" }, { "id": "DOID:0060901", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060901", "name": "lymphoplasmacytic lymphoma with IgM gammopathy", "description": "" }, { "id": "DOID:0060901", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060901", "name": "Waldenstrom Macroglobulinemia", "description": "" }, { "id": "MONDO:0100281", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100281", "name": "macroglobulinemia, Waldenstrom, 1", "description": "" }, { "id": "MONDO:0100281", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100281", "name": "WM1", "description": "" }, { "id": "MONDO:0100281", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100281", "name": "macroglobulinemia, Waldenstrom, somatic", "description": "" }, { "id": "MONDO:0100281", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100281", "name": "macroglobulinemia, waldenstrom, susceptibility to, 1", "description": "" }, { "id": "MONDO:0012491", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012491", "name": "macroglobulinemia, Waldenstrom, 2", "description": "" }, { "id": "MONDO:0012491", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012491", "name": "WM2", "description": "" }, { "id": "MONDO:0012491", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012491", "name": "macroglobulinemia, WALDENSTROM, susceptibility to, 2", "description": "" }, { "id": "MIM:153600", "resource": "MIM", "url": "https://www.omim.org/entry/153600", "name": "Macroglobulinemia, Waldenstrom, 1", "description": "Macroglobulinemia, Waldenstrom, 1" } ], "evidence": [ { "id": "0060901", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060901" } ] }, { "disease_id": "DOID:0080199", "recommended_name": { "id": "DOID:0080199", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080199", "name": "colorectal carcinoma", "description": "A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa." }, "synonyms": [], "evidence": [ { "id": "0080199", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "disease_id": "DOID:0080208", "recommended_name": { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five cardiometabolic risk factors (adjusted for age, sex and ethnicity), alcohol consumption below 140g/week (female) or 210g/week (male), and no other discernible cause. The five cardiometabolic risk factors are:(1) Body mass index 25 kg/m2 (adult), 23 kg/m2 (adult Asian), or 85th percentile (pediatric); waist circumference > 94 cm (adult male), 80 cm (adult female), or 95th percentile (pediatric); or ethnicity adjusted equivalents.(2) Fasting serum glucose 5.6 mmol/L, 2-hr post-load glucose levels 7.8 mmol/L, glycated hemoglobin (HbA1c) 5.7% (39 mmol/L), type 2 diabetes, treatment for type 2 diabetes, previously diagnosed or treated type 2 diabetes (pediatric only), or serum glucose 11.1 mmol/L (pediatric only).(3) Blood pressure lower of 130/85 mmHg or 95th percentile (age < 13 years), or 130/85 mmHg (age 13 years); or specific hypertensive drug treatment.(4) Plasma triglycerides 1.15 mmol/L (age < 10 years) or 1.70 mmol/L (age 10 years); or lipid lowering treatment.(5) Plasma high-density lipoprotein cholesterol 1.0 mmol/L (adult male, pediatric) or 1.3 mmol/L (adult female); or lipid lowering treatment." }, "synonyms": [ { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "nonalcoholic fatty liver disease", "description": "" }, { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "non-alcoholic fatty liver disease", "description": "" }, { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "NAFLD", "description": "" }, { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "metabolic dysfunction-associated fatty liver disease", "description": "" }, { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "metabolic dysfunction-related steatotic liver disease", "description": "" }, { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "MAFLD", "description": "" }, { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "MASLD", "description": "" }, { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "metabolic-associated fatty liver disease", "description": "" }, { "id": "MONDO:0013246", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013246", "name": "fatty liver disease, nonalcoholic, susceptibility to, 2", "description": "" }, { "id": "MONDO:0013246", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013246", "name": "NAFLD2", "description": "" }, { "id": "MONDO:0013246", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013246", "name": "fatty liver disease, nonalcoholic, susceptibility to, 2", "description": "" }, { "id": "MONDO:0021105", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021105", "name": "NAFLD1", "description": "" }, { "id": "MONDO:0021105", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021105", "name": "NAFLD1", "description": "" }, { "id": "MONDO:0021105", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021105", "name": "fatty liver disease, nonalcoholic, susceptibility to, 1", "description": "" }, { "id": "MONDO:0021105", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021105", "name": "liver disease, alcoholic, susceptibility to, 1", "description": "" }, { "id": "MIM:613282", "resource": "MIM", "url": "https://www.omim.org/entry/613282", "name": "Non-alcoholic fatty liver disease 1", "description": "Non-alcoholic fatty liver disease 1" } ], "evidence": [ { "id": "0080208", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ] }, { "disease_id": "DOID:0080333", "recommended_name": { "id": "DOID:0080333", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080333", "name": "aortic valve disease 1", "description": "A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the NOTCH1 gene on chromosome 9q34." }, "synonyms": [ { "id": "MONDO:0024523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024523", "name": "aortic valve disease 1", "description": "Any aortic valve disease in which the cause of the disease is a mutation in the NOTCH1 gene." }, { "id": "MONDO:0024523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024523", "name": "AOVD1", "description": "" }, { "id": "MONDO:0024523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024523", "name": "NOTCH1 aortic valve disease", "description": "" }, { "id": "MONDO:0024523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024523", "name": "Notch1 aortic valve disease", "description": "" }, { "id": "MONDO:0024523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024523", "name": "aortic valve disease 1", "description": "" }, { "id": "MONDO:0024523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024523", "name": "aortic valve disease caused by mutation in NOTCH1", "description": "" }, { "id": "MONDO:0024523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024523", "name": "aortic valve disease caused by mutation in Notch1", "description": "" }, { "id": "MONDO:0024523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024523", "name": "aortic stenosis, calcific", "description": "" }, { "id": "MONDO:0024523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024523", "name": "aortic valve disease", "description": "" }, { "id": "MONDO:0024523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024523", "name": "aortic valve, bicuspid", "description": "" }, { "id": "MONDO:0024523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024523", "name": "aortic valve, calcification of", "description": "" }, { "id": "MONDO:0024523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024523", "name": "bicuspid aortic valve", "description": "" }, { "id": "MIM:109730", "resource": "MIM", "url": "https://www.omim.org/entry/109730", "name": "Aortic valve disease 1", "description": "Aortic valve disease 1" } ], "evidence": [ { "id": "0080333", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080333" } ] }, { "disease_id": "DOID:0080547", "recommended_name": { "id": "DOID:0080547", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080547", "name": "metabolic dysfunction-associated steatohepatitis", "description": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis." }, "synonyms": [ { "id": "DOID:0080547", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080547", "name": "non-alcoholic steatohepatitis", "description": "" }, { "id": "DOID:0080547", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080547", "name": "NASH", "description": "" }, { "id": "DOID:0080547", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080547", "name": "MASH", "description": "" }, { "id": "DOID:0080547", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080547", "name": "nonalcoholic steatohepatitis", "description": "" } ], "evidence": [ { "id": "0080547", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080547" } ] }, { "disease_id": "DOID:0080600", "recommended_name": { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "COVID-19", "description": "A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in SARS-CoV-2." }, "synonyms": [ { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "2019 Novel Coronavirus (2019-nCoV)", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "2019-nCoV infection", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "Wuhan coronavirus infection", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "Wuhan seafood market pneumonia virus infection", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "COVID19", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "SARS-CoV-2 infection", "description": "" } ], "evidence": [ { "id": "0080600", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080600" } ] }, { "disease_id": "DOID:0080743", "recommended_name": { "id": "DOID:0080743", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080743", "name": "transverse myelitis", "description": "A myelitis that is characterized by a band-like sensation across the trunk of the body, with sensory changes below." }, "synonyms": [], "evidence": [ { "id": "0080743", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080743" } ] }, { "disease_id": "DOID:0080998", "recommended_name": { "id": "DOID:0080998", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080998", "name": "acute necrotizing pancreatitis", "description": "An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems." }, "synonyms": [], "evidence": [ { "id": "0080998", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080998" } ] }, { "disease_id": "DOID:10140", "recommended_name": { "id": "DOID:10140", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10140", "name": "dry eye syndrome", "description": "A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface." }, "synonyms": [ { "id": "DOID:10140", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10140", "name": "Tear film insufficiency", "description": "" }, { "id": "DOID:10140", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10140", "name": "dry eye disease", "description": "" } ], "evidence": [ { "id": "10140", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10140" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "evidence": [ { "id": "10534", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:10591", "recommended_name": { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy." }, "synonyms": [ { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "gestational hypertension", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "hypertension induced by pregnancy", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "pre-eclamptic toxaemia", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "preeclampsia", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "preeclampsia/eclampsia", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "pregnancy associated hypertension", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "pregnancy toxemia", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "proteinuric hypertension of pregnancy", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "toxaemia of pregnancy", "description": "" }, { "id": "MONDO:0012266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012266", "name": "preeclampsia/eclampsia 4", "description": "Any preeclampsia in which the cause of the disease is a mutation in the STOX1 gene." }, { "id": "MONDO:0012266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012266", "name": "Preeclampsia/eclampsia type 4", "description": "" }, { "id": "MONDO:0012266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012266", "name": "STOX1 preeclampsia", "description": "" }, { "id": "MONDO:0012266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012266", "name": "preeclampsia caused by mutation in STOX1", "description": "" }, { "id": "MONDO:0012266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012266", "name": "preeclampsia/eclampsia 4", "description": "" }, { "id": "MONDO:0012266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012266", "name": "PEE4", "description": "" }, { "id": "MONDO:0012266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012266", "name": "PREECLAMPSIA/eclampsia 4", "description": "" }, { "id": "MONDO:0012265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012265", "name": "preeclampsia/eclampsia 3", "description": "" }, { "id": "MONDO:0012265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012265", "name": "PEE3", "description": "" }, { "id": "MONDO:0012265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012265", "name": "PREECLAMPSIA/eclampsia 3", "description": "" }, { "id": "MONDO:0012264", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012264", "name": "preeclampsia/eclampsia 2", "description": "" }, { "id": "MONDO:0012264", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012264", "name": "PEE2", "description": "" }, { "id": "MONDO:0012264", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012264", "name": "PREECLAMPSIA/eclampsia 2", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "preeclampsia/eclampsia 1", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "toxaemia of pregnancy", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "toxemia of pregnancy", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "PEE1", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "PREECLAMPSIA/eclampsia 1", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "PREG1", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "hemolysis, elevated liver enzymes, and low platelet count", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "hypertension, pregnancy-induced", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome 1", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "FGFR2-related bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "perinatal lethal bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "BBDS", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia (BBD)-FGFR2 type", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome", "description": "" }, { "id": "MIM:609404", "resource": "MIM", "url": "https://www.omim.org/entry/609404", "name": "Pre-eclampsia/eclampsia 4", "description": "Pre-eclampsia/eclampsia 4" }, { "id": "MIM:614592", "resource": "MIM", "url": "https://www.omim.org/entry/614592", "name": "Bent bone dysplasia syndrome 1", "description": "Bent bone dysplasia syndrome 1" } ], "evidence": [ { "id": "10591", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ] }, { "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:1073", "recommended_name": { "id": "DOID:1073", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1073", "name": "renal hypertension", "description": "" }, "synonyms": [], "evidence": [ { "id": "1073", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1073" } ] }, { "disease_id": "DOID:10754", "recommended_name": { "id": "DOID:10754", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10754", "name": "otitis media", "description": "A otitis which involves inflammation of the middle ear." }, "synonyms": [], "evidence": [ { "id": "10754", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10754" } ] }, { "disease_id": "DOID:10763", "recommended_name": { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries." }, "synonyms": [ { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "HTN", "description": "" }, { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "hyperpiesia", "description": "" }, { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "vascular hypertensive disorder", "description": "" } ], "evidence": [ { "id": "10763", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ] }, { "disease_id": "DOID:10873", "recommended_name": { "id": "DOID:10873", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10873", "name": "Kuhnt-Junius degeneration", "description": "" }, "synonyms": [ { "id": "DOID:10873", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10873", "name": "Exudative senile macular degeneration of retina", "description": "" }, { "id": "DOID:10873", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10873", "name": "Neovascular age-related macular degeneration", "description": "" }, { "id": "DOID:10873", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10873", "name": "Senile macular degeneration, wet", "description": "" }, { "id": "DOID:10873", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10873", "name": "Wet senile macular retinal degeneration", "description": "" } ], "evidence": [ { "id": "10873", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10873" } ] }, { "disease_id": "DOID:10941", "recommended_name": { "id": "DOID:10941", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10941", "name": "intracranial aneurysm", "description": "" }, "synonyms": [ { "id": "DOID:10941", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10941", "name": "brain aneurysm", "description": "" } ], "evidence": [ { "id": "10941", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10941" } ] }, { "disease_id": "DOID:10964", "recommended_name": { "id": "DOID:10964", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10964", "name": "cholesteatoma of middle ear", "description": "" }, "synonyms": [ { "id": "DOID:10964", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10964", "name": "Cholesteatoma of middle ear and mastoid", "description": "" }, { "id": "DOID:10964", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10964", "name": "Cholesteatoma of middle ear and/or mastoid", "description": "" }, { "id": "DOID:10964", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10964", "name": "Cholesteatoma of the middle ear", "description": "" }, { "id": "DOID:10964", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10964", "name": "Epidermosis of ear", "description": "" }, { "id": "DOID:10964", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10964", "name": "Epidermosis of middle ear", "description": "" }, { "id": "DOID:10964", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10964", "name": "middle ear cholesteatoma", "description": "" } ], "evidence": [ { "id": "10964", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10964" } ] }, { "disease_id": "DOID:11168", "recommended_name": { "id": "DOID:11168", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11168", "name": "anogenital venereal wart", "description": "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts." }, "synonyms": [ { "id": "DOID:11168", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11168", "name": "Anogenital warts", "description": "" }, { "id": "DOID:11168", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11168", "name": "Genital warts", "description": "" }, { "id": "DOID:11168", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11168", "name": "Anogenital Human papilloma Virus Infectious Disease", "description": "" }, { "id": "DOID:11168", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11168", "name": "genital wart virus infectious disease", "description": "" }, { "id": "DOID:11168", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11168", "name": "venereal wart", "description": "" } ], "evidence": [ { "id": "11168", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11168" } ] }, { "disease_id": "DOID:1123", "recommended_name": { "id": "DOID:1123", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1123", "name": "spondyloarthropathy", "description": "" }, "synonyms": [ { "id": "DOID:1123", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1123", "name": "spondarthropathy", "description": "" }, { "id": "DOID:1123", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1123", "name": "spondylarthrosis", "description": "" } ], "evidence": [ { "id": "1123", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1123" } ] }, { "disease_id": "DOID:11247", "recommended_name": { "id": "DOID:11247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11247", "name": "disseminated intravascular coagulation", "description": "" }, "synonyms": [ { "id": "DOID:11247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11247", "name": "DIC", "description": "" }, { "id": "DOID:11247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11247", "name": "Defibrination syndrome", "description": "" }, { "id": "DOID:11247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11247", "name": "Diffuse or disseminated intravascular coagulation", "description": "" } ], "evidence": [ { "id": "11247", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11247" } ] }, { "disease_id": "DOID:11446", "recommended_name": { "id": "DOID:11446", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11446", "name": "sciatic neuropathy", "description": "" }, "synonyms": [], "evidence": [ { "id": "11446", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ] }, { "disease_id": "DOID:11714", "recommended_name": { "id": "DOID:11714", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11714", "name": "gestational diabetes", "description": "A diabetes mellitus that manifests during pregnancy." }, "synonyms": [ { "id": "DOID:11714", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11714", "name": "GDM", "description": "" }, { "id": "DOID:11714", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11714", "name": "Gestational diabetes mellitus", "description": "" }, { "id": "DOID:11714", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11714", "name": "Maternal gestational diabetes mellitus", "description": "" } ], "evidence": [ { "id": "11714", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11714" } ] }, { "disease_id": "DOID:11716", "recommended_name": { "id": "DOID:11716", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11716", "name": "prediabetes syndrome", "description": "A glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes." }, "synonyms": [ { "id": "DOID:11716", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11716", "name": "Prediabetes", "description": "" }, { "id": "DOID:11716", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11716", "name": "prediabetic state", "description": "" }, { "id": "DOID:11716", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11716", "name": "impaired glucose tolerance", "description": "" } ], "evidence": [ { "id": "11716", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11716" } ] }, { "disease_id": "DOID:11758", "recommended_name": { "id": "DOID:11758", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11758", "name": "iron deficiency anemia", "description": "A microcytic anemia that is characterized by pallor, fatigue, lightheadedness, and weakness and has_material_basis_in low total body iron causing impaired synthesis of red blood cells." }, "synonyms": [], "evidence": [ { "id": "11758", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11758" } ] }, { "disease_id": "DOID:12236", "recommended_name": { "id": "DOID:12236", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12236", "name": "primary biliary cholangitis", "description": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts." }, "synonyms": [ { "id": "DOID:12236", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12236", "name": "biliary liver cirrhosis", "description": "" }, { "id": "DOID:12236", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12236", "name": "cholestatic cirrhosis", "description": "" }, { "id": "DOID:12236", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12236", "name": "chronic nonsuppurative destructive cholangitis", "description": "" }, { "id": "DOID:12236", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12236", "name": "primary biliary cirrhosis", "description": "" }, { "id": "MONDO:0007193", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007193", "name": "primary biliary cholangitis 1", "description": "" }, { "id": "MONDO:0007193", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007193", "name": "PBC1", "description": "" }, { "id": "MONDO:0007193", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007193", "name": "Pbc", "description": "" }, { "id": "MONDO:0007193", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007193", "name": "biliary cirrhosis, primary, 1", "description": "" } ], "evidence": [ { "id": "12236", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12236" } ] }, { "disease_id": "DOID:12241", "recommended_name": { "id": "DOID:12241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12241", "name": "beta thalassemia", "description": "A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin." }, "synonyms": [ { "id": "MONDO:0013517", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013517", "name": "beta-thalassemia HBB/LCRB", "description": "Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype." }, { "id": "MONDO:0013517", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013517", "name": "thalassemia, beta", "description": "" }, { "id": "MONDO:0013517", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013517", "name": "thalassemia, hispanic gamma-delta-beta", "description": "" }, { "id": "MONDO:0013517", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013517", "name": "beta-thalassemia", "description": "" }, { "id": "MIM:613985", "resource": "MIM", "url": "https://www.omim.org/entry/613985", "name": "Beta-thalassemia", "description": "Beta-thalassemia" } ], "evidence": [ { "id": "12241", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12241" } ] }, { "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": "" }, { "id": "MONDO:0100489", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100489", "name": "Graves disease, susceptibility to, 1", "description": "" }, { "id": "MONDO:0100489", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100489", "name": "Graves disease, susceptibility to, 1", "description": "" } ], "evidence": [ { "id": "12361", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12361" } ] }, { "disease_id": "DOID:12704", "recommended_name": { "id": "DOID:12704", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12704", "name": "ataxia telangiectasia", "description": "An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22." }, "synonyms": [ { "id": "DOID:12704", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12704", "name": "Boder-Sedgwick syndrome", "description": "" }, { "id": "DOID:12704", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12704", "name": "Louis Bar syndrome", "description": "" }, { "id": "MONDO:0008840", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008840", "name": "ataxia telangiectasia", "description": "Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterized by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer." }, { "id": "MONDO:0008840", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008840", "name": "Louis Bar syndrome", "description": "" }, { "id": "MONDO:0008840", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008840", "name": "Louis-Bar syndrome", "description": "" }, { "id": "MONDO:0008840", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008840", "name": "ataxia - telangiectasia", "description": "" }, { "id": "MONDO:0008840", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008840", "name": "ataxia telangiectasia", "description": "" }, { "id": "MONDO:0008840", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008840", "name": "ataxia telangiectasia syndrome", "description": "" }, { "id": "MONDO:0008840", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008840", "name": "boder-Sedgwick syndrome", "description": "" }, { "id": "MONDO:0008840", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008840", "name": "AT", "description": "" }, { "id": "MONDO:0008840", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008840", "name": "AT, complementation group A", "description": "" }, { "id": "MONDO:0008840", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008840", "name": "AT, complementation group C", "description": "" }, { "id": "MONDO:0008840", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008840", "name": "AT, complementation group D", "description": "" }, { "id": "MONDO:0008840", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008840", "name": "AT, complementation group E", "description": "" }, { "id": "MONDO:0008840", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008840", "name": "AT1", "description": "" }, { "id": "MONDO:0008840", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008840", "name": "ataxia - telangiectasia variant", "description": "" }, { "id": "MONDO:0008840", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008840", "name": "ataxia-telangiectasia", "description": "" }, { "id": "MONDO:0008840", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008840", "name": "cerebello-oculocutaneous telangiectasia", "description": "" }, { "id": "MONDO:0008840", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008840", "name": "immunodeficiency with ataxia telangiectasia", "description": "" }, { "id": "MIM:208900", "resource": "MIM", "url": "https://www.omim.org/entry/208900", "name": "Ataxia telangiectasia", "description": "Ataxia telangiectasia" } ], "evidence": [ { "id": "12704", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12704" } ] }, { "disease_id": "DOID:1273", "recommended_name": { "id": "DOID:1273", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1273", "name": "respiratory syncytial virus infectious disease", "description": "A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress." }, "synonyms": [ { "id": "DOID:1273", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1273", "name": "RSV", "description": "" }, { "id": "DOID:1273", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1273", "name": "respiratory syncytial virus", "description": "" } ], "evidence": [ { "id": "1273", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1273" } ] }, { "disease_id": "DOID:12835", "recommended_name": { "id": "DOID:12835", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12835", "name": "quadriplegia", "description": "" }, "synonyms": [ { "id": "DOID:12835", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12835", "name": "tetraplegia", "description": "" } ], "evidence": [ { "id": "12835", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12835" } ] }, { "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:12858", "recommended_name": { "id": "DOID:12858", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12858", "name": "Huntington's disease", "description": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities." }, "synonyms": [ { "id": "DOID:12858", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12858", "name": "HD", "description": "" }, { "id": "DOID:12858", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12858", "name": "Huntington disease", "description": "" }, { "id": "DOID:12858", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12858", "name": "Huntington's chorea", "description": "" }, { "id": "MONDO:0007739", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007739", "name": "Huntington disease", "description": "Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." }, { "id": "MONDO:0007739", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007739", "name": "HD", "description": "" }, { "id": "MONDO:0007739", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007739", "name": "Huntington chorea", "description": "" }, { "id": "MONDO:0007739", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007739", "name": "Huntington disease", "description": "" }, { "id": "MONDO:0007739", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007739", "name": "Huntington's Disease", "description": "" }, { "id": "MONDO:0007739", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007739", "name": "Huntington's chorea", "description": "" }, { "id": "MONDO:0007739", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007739", "name": "Huntington's disease", "description": "" }, { "id": "MIM:143100", "resource": "MIM", "url": "https://www.omim.org/entry/143100", "name": "Huntington disease", "description": "Huntington disease" } ], "evidence": [ { "id": "12858", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12858" } ] }, { "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:12895", "recommended_name": { "id": "DOID:12895", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12895", "name": "keratoconjunctivitis sicca", "description": "" }, "synonyms": [ { "id": "DOID:12895", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12895", "name": "KCS", "description": "" } ], "evidence": [ { "id": "12895", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12895" } ] }, { "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: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:13593", "recommended_name": { "id": "DOID:13593", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13593", "name": "eclampsia", "description": "A pre-eclampsia characterized by the presence of seizures." }, "synonyms": [ { "id": "DOID:13593", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13593", "name": "Eclampsia in puerperium", "description": "" }, { "id": "DOID:13593", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13593", "name": "Eclampsia, postpartum", "description": "" }, { "id": "DOID:13593", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13593", "name": "Postpartum eclampsia", "description": "" } ], "evidence": [ { "id": "13593", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13593" } ] }, { "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:1470", "recommended_name": { "id": "DOID:1470", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1470", "name": "major depressive disorder", "description": "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality." }, "synonyms": [ { "id": "DOID:1470", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1470", "name": "clinical depression", "description": "" }, { "id": "DOID:1470", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1470", "name": "recurrent major depression", "description": "" }, { "id": "DOID:1470", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1470", "name": "single major depressive episode", "description": "" }, { "id": "DOID:1470", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1470", "name": "unipolar depression", "description": "" }, { "id": "DOID:1470", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1470", "name": "major depression", "description": "" }, { "id": "MONDO:0012100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012100", "name": "major depressive disorder 2", "description": "" }, { "id": "MONDO:0012100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012100", "name": "MDD2", "description": "" }, { "id": "MONDO:0012100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012100", "name": "major depressive disorder 2", "description": "" }, { "id": "MONDO:0012100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012100", "name": "major depressive disorder type 2", "description": "" }, { "id": "MONDO:0012100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012100", "name": "unipolar depression 2", "description": "" }, { "id": "MONDO:0012050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012050", "name": "major depressive disorder 1", "description": "" }, { "id": "MONDO:0012050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012050", "name": "MDD1", "description": "" }, { "id": "MONDO:0012050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012050", "name": "major depressive disorder 1", "description": "" }, { "id": "MONDO:0012050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012050", "name": "major depressive disorder type 1", "description": "" }, { "id": "MONDO:0012050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012050", "name": "unipolar depression 1", "description": "" } ], "evidence": [ { "id": "1470", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1470" } ] }, { "disease_id": "DOID:1474", "recommended_name": { "id": "DOID:1474", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1474", "name": "aggressive periodontitis", "description": "A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium." }, "synonyms": [ { "id": "DOID:1474", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1474", "name": "juvenile periodontitis", "description": "" }, { "id": "MONDO:0008226", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008226", "name": "periodontitis, aggressive 1", "description": "A localized aggressive periodontitis, formerly called localized juvenile periodontitis. It is a destructive form of periodontitis characterized by ALVEOLAR BONE LOSS of the MOLARS and INCISORS. Inflammation and loss of PERIODONTIUM that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as DENTAL PLAQUE and DENTAL CALCULUS. This highly destructive form of periodontitis often occurs in young people and was called early-onset periodontitis, but this disease also appears in old people." }, { "id": "MONDO:0008226", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008226", "name": "juvenile periodontitis", "description": "" }, { "id": "MONDO:0008226", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008226", "name": "periodontitis 1, juvenile", "description": "" }, { "id": "MONDO:0008226", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008226", "name": "periodontitis, aggressive, type 1", "description": "" }, { "id": "MONDO:0008226", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008226", "name": "periodontitis, aggressive, 1", "description": "" }, { "id": "MONDO:0008226", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008226", "name": "periodontitis, juvenile", "description": "" }, { "id": "MONDO:0008226", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008226", "name": "periodontitis, prepubertal", "description": "" }, { "id": "MONDO:0012051", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012051", "name": "periodontitis, aggressive, 2", "description": "" }, { "id": "MONDO:0012051", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012051", "name": "periodontitis, aggressive, 2", "description": "" }, { "id": "MONDO:0012051", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012051", "name": "periodontitis, aggressive, type 2", "description": "" }, { "id": "MIM:170650", "resource": "MIM", "url": "https://www.omim.org/entry/170650", "name": "Periodontititis, aggressive, 1", "description": "Periodontititis, aggressive, 1" } ], "evidence": [ { "id": "1474", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1474" } ] }, { "disease_id": "DOID:1485", "recommended_name": { "id": "DOID:1485", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs." }, "synonyms": [ { "id": "DOID:1485", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1485", "name": "CF", "description": "" }, { "id": "DOID:1485", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1485", "name": "mucoviscidosis", "description": "" }, { "id": "MONDO:0009061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009061", "name": "cystic fibrosis", "description": "Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity." }, { "id": "MONDO:0009061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009061", "name": "CF", "description": "" }, { "id": "MONDO:0009061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009061", "name": "cystic fibrosis", "description": "" }, { "id": "MONDO:0009061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009061", "name": "cystic fibrosis lung disease, modifier of", "description": "" }, { "id": "MONDO:0009061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009061", "name": "mucoviscidosis", "description": "" }, { "id": "MONDO:0009061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009061", "name": "pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis", "description": "" }, { "id": "MIM:219700", "resource": "MIM", "url": "https://www.omim.org/entry/219700", "name": "Cystic fibrosis", "description": "Cystic fibrosis" } ], "evidence": [ { "id": "1485", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ] }, { "disease_id": "DOID:1580", "recommended_name": { "id": "DOID:1580", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1580", "name": "diffuse scleroderma", "description": "" }, "synonyms": [ { "id": "DOID:1580", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1580", "name": "diffuse systemic sclerosis", "description": "" }, { "id": "DOID:1580", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1580", "name": "systemic sclerosis, diffuse", "description": "" } ], "evidence": [ { "id": "1580", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1580" } ] }, { "disease_id": "DOID:1588", "recommended_name": { "id": "DOID:1588", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1588", "name": "thrombocytopenia", "description": "A blood platelet disease that is characterized by low a platelet count in the blood." }, "synonyms": [ { "id": "MONDO:0012775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012775", "name": "thrombocytopenia 4", "description": "Any thrombocytopenia in which the cause of the disease is a mutation in the CYCS gene." }, { "id": "MONDO:0012775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012775", "name": "CYCS thrombocytopenia", "description": "" }, { "id": "MONDO:0012775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012775", "name": "thrombocytopenia 4", "description": "" }, { "id": "MONDO:0012775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012775", "name": "thrombocytopenia caused by mutation in CYCS", "description": "" }, { "id": "MONDO:0012775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012775", "name": "thrombocytopenia type 4", "description": "" }, { "id": "MONDO:0012775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012775", "name": "THC4", "description": "" }, { "id": "MONDO:0012775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012775", "name": "thrombocytopenia, autosomal dominant, 4", "description": "" }, { "id": "MONDO:0010308", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010308", "name": "thrombocytopenia, X-linked, with or without dyserythropoietic anemia", "description": "An X-linked condition caused by mutation(s) in the GATA1 gene, encoding erythroid transcription factor. It is characterized by thrombocytopenia, as well as abnormal platelet function and morphology. Dyserythropoietic anemia of variable severity may also be present." }, { "id": "MONDO:0010308", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010308", "name": "X-linked thrombocytopenia, with or without dyserythropoietic Anaemia", "description": "" }, { "id": "MONDO:0010308", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010308", "name": "X-linked thrombocytopenia, with or without dyserythropoietic Anemia", "description": "" }, { "id": "MONDO:0010308", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010308", "name": "thrombocytopenia, X-linked, with or without dyserythropoietic anemia", "description": "" }, { "id": "MONDO:0010308", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010308", "name": "thrombocytopenia, X-linked, with or without dyserythropoietic anemia, X-linked recessive", "description": "" }, { "id": "MONDO:0010308", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010308", "name": "XLTDA", "description": "" }, { "id": "MONDO:0008555", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008555", "name": "thrombocytopenia 2", "description": "An autosomal dominant disorder caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability." }, { "id": "MONDO:0008555", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008555", "name": "thrombocytopenia 2", "description": "" }, { "id": "MONDO:0008555", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008555", "name": "thrombocytopenia type 2", "description": "" }, { "id": "MONDO:0008555", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008555", "name": "THC2", "description": "" }, { "id": "MONDO:0008555", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008555", "name": "thrombocytopenia autosomal dominant 2", "description": "" }, { "id": "MONDO:0008555", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008555", "name": "thrombocytopenia, autosomal dominant, 2", "description": "" }, { "id": "MONDO:0010120", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010120", "name": "thrombocytopenia 3", "description": "" }, { "id": "MONDO:0010120", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010120", "name": "THC3", "description": "" }, { "id": "MONDO:0010120", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010120", "name": "thrombocytopenia 3", "description": "" }, { "id": "MONDO:0010120", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010120", "name": "thrombocytopenia, autosomal recessive, 3", "description": "" }, { "id": "MONDO:0010743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010743", "name": "thrombocytopenia 1", "description": "" }, { "id": "MONDO:0010743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010743", "name": "X-linked thrombocytopenia with normal platelets", "description": "" }, { "id": "MONDO:0010743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010743", "name": "thrombocytopenia 1", "description": "" }, { "id": "MONDO:0010743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010743", "name": "thrombocytopenia type 1", "description": "" }, { "id": "MONDO:0010743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010743", "name": "thrombocytopenia, X-linked, X-linked recessive", "description": "" }, { "id": "MONDO:0010743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010743", "name": "thrombocytopenia, X-linked, intermittent, X-linked recessive", "description": "" }, { "id": "MONDO:0010743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010743", "name": "THC", "description": "" }, { "id": "MONDO:0010743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010743", "name": "THC1", "description": "" }, { "id": "MONDO:0010743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010743", "name": "X-linked thrombocytopenia", "description": "" }, { "id": "MONDO:0010743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010743", "name": "XLT", "description": "" }, { "id": "MONDO:0010743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010743", "name": "thrombocytopenia, X-linked", "description": "" }, { "id": "MONDO:0010743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010743", "name": "thrombocytopenia, X-linked, 1", "description": "" }, { "id": "MONDO:0010743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010743", "name": "thrombocytopenia, X-linked, intermittent", "description": "" }, { "id": "MIM:612004", "resource": "MIM", "url": "https://www.omim.org/entry/612004", "name": "Thrombocytopenia 4", "description": "Thrombocytopenia 4" }, { "id": "MIM:300367", "resource": "MIM", "url": "https://www.omim.org/entry/300367", "name": "X-linked dyserythropoietic anemia and thrombocytopenia", "description": "X-linked dyserythropoietic anemia and thrombocytopenia" }, { "id": "MIM:188000", "resource": "MIM", "url": "https://www.omim.org/entry/188000", "name": "Thrombocytopenia 2", "description": "Thrombocytopenia 2" }, { "id": "MIM:273900", "resource": "MIM", "url": "https://www.omim.org/entry/273900", "name": "Thrombocytopenia 3", "description": "Thrombocytopenia 3" }, { "id": "MIM:313900", "resource": "MIM", "url": "https://www.omim.org/entry/313900", "name": "Thrombocytopenia 1", "description": "Thrombocytopenia 1" } ], "evidence": [ { "id": "1588", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1588" } ] }, { "disease_id": "DOID:1596", "recommended_name": { "id": "DOID:1596", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function." }, "synonyms": [ { "id": "DOID:1596", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1596", "name": "mental depression", "description": "" } ], "evidence": [ { "id": "1596", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ] }, { "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:1687", "recommended_name": { "id": "DOID:1687", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1687", "name": "neovascular glaucoma", "description": "A glaucoma characterized by narrowing of the anterior chamber angle secondary to neovascularization along the iris and iridocorneal angle such that the aqueous fluid outflow is blocked and intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Neovascular glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Neovascular glaucoma can be related to abnormal angiogenesis with ischemic retinal diseases, inflammation, diabetes mellitus, intraocular malignancy, and autoimmune diseases." }, "synonyms": [ { "id": "DOID:1687", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1687", "name": "secondary angle-closure glaucoma with rubeosis", "description": "" } ], "evidence": [ { "id": "1687", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1687" } ] }, { "disease_id": "DOID:1727", "recommended_name": { "id": "DOID:1727", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1727", "name": "retinal vein occlusion", "description": "" }, "synonyms": [ { "id": "DOID:1727", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1727", "name": "Occlusion, of retinal vein", "description": "" } ], "evidence": [ { "id": "1727", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1727" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "evidence": [ { "id": "1793", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:1826", "recommended_name": { "id": "DOID:1826", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions." }, "synonyms": [ { "id": "DOID:1826", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1826", "name": "epilepsy syndrome", "description": "" }, { "id": "DOID:1826", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1826", "name": "epileptic syndrome", "description": "" } ], "evidence": [ { "id": "1826", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ] }, { "disease_id": "DOID:1875", "recommended_name": { "id": "DOID:1875", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1875", "name": "impotence", "description": "A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity." }, "synonyms": [ { "id": "DOID:1875", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1875", "name": "Sexual impotence", "description": "" }, { "id": "DOID:1875", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1875", "name": "erectile dysfunction", "description": "" } ], "evidence": [ { "id": "1875", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1875" } ] }, { "disease_id": "DOID: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:1924", "recommended_name": { "id": "DOID:1924", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1924", "name": "hypogonadism", "description": "A gonadal disease that is characterized by diminished functional activity of the gonads." }, "synonyms": [ { "id": "MONDO:0009421", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009421", "name": "hypogonadism, male", "description": "" }, { "id": "MONDO:0009421", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009421", "name": "hypogonadism, male", "description": "" }, { "id": "MONDO:0009421", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009421", "name": "hypogonadism and testicular atrophy", "description": "" } ], "evidence": [ { "id": "1924", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1924" } ] }, { "disease_id": "DOID:1993", "recommended_name": { "id": "DOID:1993", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1993", "name": "rectum cancer", "description": "A colorectal cancer that is located_in the rectum." }, "synonyms": [ { "id": "DOID:1993", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1993", "name": "carcinoma of rectum", "description": "" }, { "id": "DOID:1993", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1993", "name": "carcinoma of the rectum", "description": "" }, { "id": "DOID:1993", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1993", "name": "malignant Rectal tumor", "description": "" }, { "id": "DOID:1993", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1993", "name": "malignant neoplasm of rectum", "description": "" }, { "id": "DOID:1993", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1993", "name": "malignant rectum tumor", "description": "" }, { "id": "DOID:1993", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1993", "name": "malignant tumor of rectum", "description": "" }, { "id": "DOID:1993", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1993", "name": "rectal cancer", "description": "" } ], "evidence": [ { "id": "1993", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1993" } ] }, { "disease_id": "DOID:2018", "recommended_name": { "id": "DOID:2018", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2018", "name": "hyperinsulinism", "description": "" }, "synonyms": [ { "id": "DOID:2018", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2018", "name": "hyperinsulinemia", "description": "" } ], "evidence": [ { "id": "2018", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2018" } ] }, { "disease_id": "DOID:2043", "recommended_name": { "id": "DOID:2043", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2043", "name": "hepatitis B", "description": "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus, which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice." }, "synonyms": [ { "id": "DOID:2043", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2043", "name": "chronic hepatitis B", "description": "" }, { "id": "DOID:2043", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2043", "name": "hepatitis B infection", "description": "" } ], "evidence": [ { "id": "2043", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ] }, { "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:2797", "recommended_name": { "id": "DOID:2797", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2797", "name": "idiopathic interstitial pneumonia", "description": "A pneumonia located_in the lung parenchyma of unknown cause." }, "synonyms": [ { "id": "DOID:2797", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2797", "name": "Diffuse idiopathic pulmonary fibrosis", "description": "" }, { "id": "DOID:2797", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2797", "name": "Idiopathic fibrosing alveolitis", "description": "" } ], "evidence": [ { "id": "2797", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2797" } ] }, { "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": "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": "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:2862", "recommended_name": { "id": "DOID:2862", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2862", "name": "glucosephosphate dehydrogenase deficiency", "description": "A carbohydrate metabolic disorder that is characterized by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH)." }, "synonyms": [ { "id": "DOID:2862", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2862", "name": "Glucose-6-phosphate dehydrogenase deficiency", "description": "" }, { "id": "DOID:2862", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2862", "name": "deficiency of G-6PD", "description": "" } ], "evidence": [ { "id": "2862", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2862" } ] }, { "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 infectious disease 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:2987", "recommended_name": { "id": "DOID:2987", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2987", "name": "familial Mediterranean fever", "description": "An autoimmune disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin." }, "synonyms": [ { "id": "DOID:2987", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2987", "name": "benign paroxysmal peritonitis", "description": "" }, { "id": "DOID:2987", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2987", "name": "FMF", "description": "" }, { "id": "MONDO:0007601", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007601", "name": "familial Mediterranean fever, autosomal dominant", "description": "" }, { "id": "MONDO:0007601", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007601", "name": "familial Mediterranean fever, AD", "description": "" }, { "id": "MONDO:0007601", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007601", "name": "familial Mediterranean fever, autosomal dominant", "description": "" }, { "id": "MONDO:0007601", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007601", "name": "Fmf, autosomal dominant", "description": "" }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "autosomal recessive familial Mediterranean fever", "description": "Autosomal recessive form of familial Mediterranean fever." }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "autosomal recessive familial Mediterranean fever", "description": "" }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "familial Mediterranean fever, AR", "description": "" }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "familial Mediterranean fever, autosomal recessive", "description": "" }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "FMF", "description": "" }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "familial MEDITERRANEAN FEVER", "description": "" }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "familial Mediterranean fever", "description": "" }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "polyserositis, familial paroxysmal", "description": "" }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "polyserositis, recurrent", "description": "" }, { "id": "MIM:134610", "resource": "MIM", "url": "https://www.omim.org/entry/134610", "name": "Familial Mediterranean fever, autosomal dominant", "description": "Familial Mediterranean fever, autosomal dominant" }, { "id": "MIM:249100", "resource": "MIM", "url": "https://www.omim.org/entry/249100", "name": "Familial Mediterranean fever, autosomal recessive", "description": "Familial Mediterranean fever, autosomal recessive" } ], "evidence": [ { "id": "2987", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ] }, { "disease_id": "DOID:3021", "recommended_name": { "id": "DOID:3021", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3021", "name": "acute kidney failure", "description": "" }, "synonyms": [], "evidence": [ { "id": "3021", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ] }, { "disease_id": "DOID:3083", "recommended_name": { "id": "DOID:3083", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both." }, "synonyms": [ { "id": "DOID:3083", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3083", "name": "COLD", "description": "" }, { "id": "DOID:3083", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3083", "name": "COPD", "description": "" }, { "id": "DOID:3083", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3083", "name": "chronic obstructive airway disease", "description": "" }, { "id": "DOID:3083", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3083", "name": "chronic obstructive lung disease", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "chronic obstructive pulmonary disease", "description": "A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema." }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "COPD", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "COPD, chronic obstructive pulmonary disease", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "chronic obstructive airway disease", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "chronic obstructive airways disease", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "chronic obstructive lung disease", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "chronic obstructive pulmonary disease (COPD)", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "chronic obstructive pulmonary disease, (COPD)", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "cold", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "cold (chronic obstructive lung disease)", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "disease (COPD), chronic obstructive", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "obstructive lung disease, chronic", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "obstructive pulmonary disease (COPD), chronic", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "pulmonary disease (COPD), chronic obstructive", "description": "" } ], "evidence": [ { "id": "3083", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ] }, { "disease_id": "DOID:3087", "recommended_name": { "id": "DOID:3087", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3087", "name": "gingivitis", "description": "" }, "synonyms": [ { "id": "DOID:3087", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3087", "name": "acute gingivitis", "description": "" }, { "id": "DOID:3087", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3087", "name": "chronic gingivitis", "description": "" } ], "evidence": [ { "id": "3087", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3087" } ] }, { "disease_id": "DOID:319", "recommended_name": { "id": "DOID:319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:319", "name": "spinal cord disease", "description": "" }, "synonyms": [], "evidence": [ { "id": "319", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:319" } ] }, { "disease_id": "DOID:331", "recommended_name": { "id": "DOID:331", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:331", "name": "central nervous system disease", "description": "A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system." }, "synonyms": [], "evidence": [ { "id": "331", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:331" } ] }, { "disease_id": "DOID:3388", "recommended_name": { "id": "DOID:3388", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3388", "name": "periodontal disease", "description": "A mouth disease that is relating to or affecting the structures surrounding and supporting the teeth." }, "synonyms": [ { "id": "DOID:3388", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3388", "name": "disease of supporting structures of teeth", "description": "" }, { "id": "DOID:3388", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3388", "name": "periodontium disorder", "description": "" } ], "evidence": [ { "id": "3388", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3388" } ] }, { "disease_id": "DOID:3393", "recommended_name": { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles." }, "synonyms": [ { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "CHD", "description": "" }, { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "Coronary disease", "description": "" }, { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "coronary arteriosclerosis", "description": "" }, { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "coronary heart disease", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "coronary heart disease, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "coronary heart disease, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "coronary heart disease, susceptibility to, type 4", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "Chds4", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "coronary heart disease, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "coronary heart disease, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "coronary heart disease, susceptibility to, type 2", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "Chds2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform mole, recurrent, 2", "description": "Any complete hydatidiform mole in which the cause of the disease is a mutation in the KHDC3L gene." }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "KHDC3L complete hydatidiform mole", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "complete hydatidiform mole caused by mutation in KHDC3L", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform Mole, recurrent, type 2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform mole, recurrent, 2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "HYDM2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform MOLE, recurrent, 2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform Mole, complete", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to, 1", "description": "Any coronary artery disease in which the cause of the disease is a mutation in the CX3CR1 gene." }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "CX3CR1 coronary artery disease", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary artery disease caused by mutation in CX3CR1", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary artery disease, resistance to", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to, type 1", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "Chds1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease, autosomal dominant, 1", "description": "Any coronary artery disease in which the cause of the disease is a mutation in the MEF2A gene." }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "MEF2A coronary artery disease", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease caused by mutation in MEF2A", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease, autosomal dominant, 1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease, autosomal dominant, type 1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "ADCAD1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease with myocardial infarction", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant 2", "description": "Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene." }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "LRP6 coronary artery disease", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease caused by mutation in LRP6", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant 2", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant type 2", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant, 2", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "ADCAD2", "description": "" }, { "id": "MONDO:0012788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012788", "name": "coronary heart disease, susceptibility to, 9", "description": "" }, { "id": "MONDO:0012788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012788", "name": "CHDS9", "description": "" }, { "id": "MONDO:0012788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012788", "name": "coronary heart disease, susceptibility to, 9", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "coronary heart disease, susceptibility to, 3", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "coronary heart disease, susceptibility to, 3", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "coronary heart disease, susceptibility to, type 3", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "Chds3", "description": "" }, { "id": "MONDO:0012628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012628", "name": "coronary heart disease, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012628", "name": "CHDS8", "description": "" }, { "id": "MONDO:0012628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012628", "name": "coronary heart disease, susceptibility to, 8", "description": "" }, { "id": "MIM:614293", "resource": "MIM", "url": "https://www.omim.org/entry/614293", "name": "Hydatidiform mole, recurrent, 2", "description": "Hydatidiform mole, recurrent, 2" }, { "id": "MIM:608320", "resource": "MIM", "url": "https://www.omim.org/entry/608320", "name": "Coronary artery disease, autosomal dominant, 1", "description": "Coronary artery disease, autosomal dominant, 1" }, { "id": "MIM:610947", "resource": "MIM", "url": "https://www.omim.org/entry/610947", "name": "Coronary artery disease, autosomal dominant, 2", "description": "Coronary artery disease, autosomal dominant, 2" } ], "evidence": [ { "id": "3393", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ] }, { "disease_id": "DOID:341", "recommended_name": { "id": "DOID:341", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:341", "name": "peripheral vascular disease", "description": "A vascular disease that is characterized by obstruction of larger arteries not within the coronary, aortic arch vasculature, or brain." }, "synonyms": [ { "id": "DOID:341", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:341", "name": "arterial occlusive disease", "description": "" } ], "evidence": [ { "id": "341", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:341" } ] }, { "disease_id": "DOID:3525", "recommended_name": { "id": "DOID:3525", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3525", "name": "middle cerebral artery infarction", "description": "" }, "synonyms": [], "evidence": [ { "id": "3525", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ] }, { "disease_id": "DOID:3717", "recommended_name": { "id": "DOID:3717", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3717", "name": "gastric adenocarcinoma", "description": "A stomach carcinoma that derives_from epithelial cells of glandular origin." }, "synonyms": [ { "id": "DOID:3717", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3717", "name": "adenocarcinoma of stomach", "description": "" }, { "id": "DOID:3717", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3717", "name": "stomach adenocarcinoma", "description": "" } ], "evidence": [ { "id": "3717", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3717" } ] }, { "disease_id": "DOID:418", "recommended_name": { "id": "DOID:418", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies." }, "synonyms": [ { "id": "DOID:418", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:418", "name": "Scleroderma", "description": "" }, { "id": "DOID:418", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:418", "name": "Scleroderma syndrome", "description": "" }, { "id": "DOID:418", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:418", "name": "progressive systemic sclerosis", "description": "" }, { "id": "DOID:418", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:418", "name": "systemic sclerosis", "description": "" }, { "id": "MONDO:0008418", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008418", "name": "scleroderma, familial progressive", "description": "" }, { "id": "MONDO:0008418", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008418", "name": "scleroderma, familial progressive", "description": "" }, { "id": "MONDO:0008418", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008418", "name": "Crest syndrome", "description": "" }, { "id": "MONDO:0008418", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008418", "name": "systemic sclerosis, susceptibility to", "description": "" } ], "evidence": [ { "id": "418", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:418" } ] }, { "disease_id": "DOID:4195", "recommended_name": { "id": "DOID:4195", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4195", "name": "hyperglycemia", "description": "" }, "synonyms": [], "evidence": [ { "id": "4195", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4195" } ] }, { "disease_id": "DOID:4251", "recommended_name": { "id": "DOID:4251", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4251", "name": "conjunctival disease", "description": "An eye disease affecting the conjunctiva, which is the mucous membrane surrounding the eye and interior of the eyelids." }, "synonyms": [], "evidence": [ { "id": "4251", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4251" } ] }, { "disease_id": "DOID:4449", "recommended_name": { "id": "DOID:4449", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4449", "name": "macular retinal edema", "description": "" }, "synonyms": [ { "id": "DOID:4449", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4449", "name": "macular edema", "description": "" }, { "id": "DOID:4449", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4449", "name": "macular oedema", "description": "" }, { "id": "DOID:4449", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4449", "name": "macular retinal oedema", "description": "" } ], "evidence": [ { "id": "4449", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4449" } ] }, { "disease_id": "DOID:4677", "recommended_name": { "id": "DOID:4677", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4677", "name": "keratitis", "description": "A corneal disease that is characterized by inflammation of the cornea." }, "synonyms": [], "evidence": [ { "id": "4677", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4677" } ] }, { "disease_id": "DOID:4947", "recommended_name": { "id": "DOID:4947", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells." }, "synonyms": [ { "id": "DOID:4947", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4947", "name": "adult primary Cholangiocarcinoma", "description": "" }, { "id": "DOID:4947", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4947", "name": "adult primary cholangiocellular carcinoma", "description": "" }, { "id": "DOID:4947", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4947", "name": "cholangiosarcoma", "description": "" } ], "evidence": [ { "id": "4947", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ] }, { "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:5327", "recommended_name": { "id": "DOID:5327", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5327", "name": "retinal detachment", "description": "" }, "synonyms": [ { "id": "MONDO:0008375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008375", "name": "retinal detachment", "description": "An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision." }, { "id": "MONDO:0008375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008375", "name": "detached retina", "description": "" }, { "id": "MONDO:0008375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008375", "name": "retina, detached", "description": "" }, { "id": "MONDO:0008375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008375", "name": "retinal detachment", "description": "" }, { "id": "MONDO:0008375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008375", "name": "retinal detachment", "description": "An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision." }, { "id": "MONDO:0008375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008375", "name": "detached retina", "description": "" }, { "id": "MONDO:0008375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008375", "name": "retina, detached", "description": "" }, { "id": "MONDO:0008375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008375", "name": "retinal detachment", "description": "" } ], "evidence": [ { "id": "5327", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5327" } ] }, { "disease_id": "DOID:5425", "recommended_name": { "id": "DOID:5425", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5425", "name": "ovarian hyperstimulation syndrome", "description": "An ovarian disease that is characterized by cystic enlargement of the ovaries and a fluid shift from the intravascular to the third space and has_symptom abdominal pain, has_symptom nausea and has_symptom vomiting. This disease is an iatrogenic complication of assisted reproduction technology." }, "synonyms": [ { "id": "DOID:5425", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5425", "name": "secondary Meig's syndrome", "description": "" }, { "id": "MONDO:0011972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011972", "name": "ovarian hyperstimulation syndrome", "description": "A complication of ovulation induction in infertility treatment. It is graded by the severity of symptoms which include ovary enlargement, multiple ovarian follicles; ovarian cysts; ascites; and generalized edema. The full-blown syndrome may lead to renal failure, respiratory distress, and even death. Increased capillary permeability is caused by the vasoactive substances, such as vascular endothelial growth factors, secreted by the overly-stimulated ovaries." }, { "id": "MONDO:0011972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011972", "name": "OHSS", "description": "" }, { "id": "MONDO:0011972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011972", "name": "ovarian hyperstimulation syndrome", "description": "" }, { "id": "MONDO:0011972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011972", "name": "secondary Meig's syndrome", "description": "" }, { "id": "MONDO:0011972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011972", "name": "ovarian hyperstimulation syndrome, familial gestational spontaneous", "description": "" }, { "id": "MIM:608115", "resource": "MIM", "url": "https://www.omim.org/entry/608115", "name": "Ovarian hyperstimulation syndrome", "description": "Ovarian hyperstimulation syndrome" } ], "evidence": [ { "id": "5425", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5425" } ] }, { "disease_id": "DOID:5463", "recommended_name": { "id": "DOID:5463", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5463", "name": "cochlear disease", "description": "" }, "synonyms": [], "evidence": [ { "id": "5463", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5463" } ] }, { "disease_id": "DOID:552", "recommended_name": { "id": "DOID:552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing." }, "synonyms": [ { "id": "DOID:552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:552", "name": "acute pneumonia", "description": "" } ], "evidence": [ { "id": "552", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:552" } ] }, { "disease_id": "DOID:576", "recommended_name": { "id": "DOID:576", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:576", "name": "proteinuria", "description": "A kidney disease that is characterized by the presence of excess proteins in the urine." }, "synonyms": [], "evidence": [ { "id": "576", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:576" } ] }, { "disease_id": "DOID:5844", "recommended_name": { "id": "DOID:5844", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia." }, "synonyms": [ { "id": "DOID:5844", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5844", "name": "Myocardial infarct", "description": "" }, { "id": "DOID:5844", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5844", "name": "heart attack", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "myocardial infarction, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "myocardial infarction, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "myocardial infarction, susceptibility to, type 2", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "Mci2", "description": "" } ], "evidence": [ { "id": "5844", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ] }, { "disease_id": "DOID:6000", "recommended_name": { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body." }, "synonyms": [ { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "CHF", "description": "" }, { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "Cardiac Failure Congestive", "description": "" }, { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "Congestive heart disease", "description": "" }, { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "Weak heart", "description": "" } ], "evidence": [ { "id": "6000", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ] }, { "disease_id": "DOID:6432", "recommended_name": { "id": "DOID:6432", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries." }, "synonyms": [], "evidence": [ { "id": "6432", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ] }, { "disease_id": "DOID: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": "Arthritis, Juvenile Rheumatoid", "description": "" }, { "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": "604302", "database": "MIM", "url": "https://www.omim.org/entry/604302" }, { "id": "676", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:676" } ] }, { "disease_id": "DOID:684", "recommended_name": { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver." }, "synonyms": [ { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:684", "name": "Hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, childhood type, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver and intrahepatic bile duct carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, childhood type, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver and intrahepatic bile duct carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cancer", "description": "" }, { "id": "MIM:114550", "resource": "MIM", "url": "https://www.omim.org/entry/114550", "name": "Hepatocellular carcinoma", "description": "Hepatocellular carcinoma" } ], "evidence": [ { "id": "684", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:684" } ] }, { "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:824", "recommended_name": { "id": "DOID:824", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:824", "name": "periodontitis", "description": "" }, "synonyms": [ { "id": "DOID:824", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:824", "name": "chronic pericementitis", "description": "" } ], "evidence": [ { "id": "824", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:824" } ] }, { "disease_id": "DOID:8283", "recommended_name": { "id": "DOID:8283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8283", "name": "peritonitis", "description": "A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output." }, "synonyms": [ { "id": "DOID:8283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8283", "name": "Retractile mesenteritis", "description": "" }, { "id": "DOID:8283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8283", "name": "acute generalized peritonitis", "description": "" }, { "id": "DOID:8283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8283", "name": "primary bacterial peritonitis", "description": "" }, { "id": "DOID:8283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8283", "name": "sclerosing mesenteritis", "description": "" } ], "evidence": [ { "id": "8283", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8283" } ] }, { "disease_id": "DOID:8463", "recommended_name": { "id": "DOID:8463", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8463", "name": "corneal ulcer", "description": "" }, "synonyms": [], "evidence": [ { "id": "8463", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8463" } ] }, { "disease_id": "DOID:8483", "recommended_name": { "id": "DOID:8483", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8483", "name": "retinal artery occlusion", "description": "" }, "synonyms": [], "evidence": [ { "id": "8483", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8483" } ] }, { "disease_id": "DOID:850", "recommended_name": { "id": "DOID:850", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide." }, "synonyms": [], "evidence": [ { "id": "850", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:850" } ] }, { "disease_id": "DOID:8567", "recommended_name": { "id": "DOID:8567", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8567", "name": "Hodgkin's lymphoma", "description": "A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell." }, "synonyms": [ { "id": "DOID:8567", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8567", "name": "HL", "description": "" }, { "id": "DOID:8567", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8567", "name": "Hodgkin disease", "description": "" }, { "id": "DOID:8567", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8567", "name": "Hodgkin lymphoma", "description": "" }, { "id": "DOID:8567", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8567", "name": "Hodgkin's sarcoma", "description": "" }, { "id": "DOID:8567", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8567", "name": "Hodgkins lymphoma", "description": "" }, { "id": "DOID:8567", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8567", "name": "stage I Subdiaphragmatic Hodgkin Lymphoma", "description": "" }, { "id": "DOID:8567", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8567", "name": "stage II Subdiaphragmatic Hodgkin Lymphoma", "description": "" }, { "id": "MONDO:0010762", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010762", "name": "lymphoma, Hodgkin, Y-linked pseudoautosomal", "description": "" }, { "id": "MONDO:0010762", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010762", "name": "lymphoma, Hodgkin, Y-linked pseudoautosomal", "description": "" }, { "id": "MONDO:0010762", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010762", "name": "Hodgkin disease, Y-linked Pseudoautosomal", "description": "" }, { "id": "MONDO:0010273", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010273", "name": "lymphoma, Hodgkin, X-linked pseudoautosomal", "description": "" }, { "id": "MONDO:0010273", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010273", "name": "Hodgkin disease susceptibility, pseudoautosomal", "description": "" }, { "id": "MONDO:0010273", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010273", "name": "lymphoma, Hodgkin, X-linked pseudoautosomal", "description": "" }, { "id": "MONDO:0010273", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010273", "name": "Hodgkin disease, X-linked Pseudoautosomal", "description": "" }, { "id": "MONDO:0009348", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009348", "name": "classic Hodgkin lymphoma", "description": "Classical Hodgkin lymphoma (CHL) is a B-cell lymphoma characterized histologically by the presence of large mononuclear Hodgkin cells and multinucleated Reed-Sternberg (HRS) cells." }, { "id": "MONDO:0009348", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009348", "name": "classic Hodgkin disease", "description": "" }, { "id": "MONDO:0009348", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009348", "name": "classical Hodgkin lymphoma", "description": "" }, { "id": "MONDO:0009348", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009348", "name": "classical Hodgkin's lymphoma", "description": "" }, { "id": "MONDO:0009348", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009348", "name": "Chl", "description": "" }, { "id": "MONDO:0009348", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009348", "name": "Hodgkin disease", "description": "" }, { "id": "MONDO:0009348", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009348", "name": "Hodgkin lymphoma, susceptibility to", "description": "" }, { "id": "MONDO:0009348", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009348", "name": "lymphoma, Hodgkin, classic", "description": "" }, { "id": "MIM:236000", "resource": "MIM", "url": "https://www.omim.org/entry/236000", "name": "Lymphoma, Hodgkin, classic", "description": "Lymphoma, Hodgkin, classic" } ], "evidence": [ { "id": "8567", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8567" } ] }, { "disease_id": "DOID:8632", "recommended_name": { "id": "DOID:8632", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8632", "name": "Kaposi's sarcoma", "description": "A connective tissue cancer that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_material_basis_in Human herpesvirus 8 (HHV8)." }, "synonyms": [ { "id": "DOID:8632", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8632", "name": "Kaposi sarcoma", "description": "" }, { "id": "DOID:8632", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8632", "name": "Kaposi's sarcoma of Heart", "description": "" }, { "id": "DOID:8632", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8632", "name": "Kaposi's sarcoma of anus", "description": "" }, { "id": "DOID:8632", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8632", "name": "Kaposi's sarcoma of central nervous system", "description": "" }, { "id": "DOID:8632", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8632", "name": "Kaposi's sarcoma of conjunctiva", "description": "" }, { "id": "DOID:8632", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8632", "name": "Kaposi's sarcoma of cornea", "description": "" }, { "id": "DOID:8632", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8632", "name": "Kaposi's sarcoma of esophagus", "description": "" }, { "id": "DOID:8632", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8632", "name": "Kaposi's sarcoma of gastrointestinal sites", "description": "" }, { "id": "DOID:8632", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8632", "name": "Kaposi's sarcoma of lung", "description": "" }, { "id": "DOID:8632", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8632", "name": "Kaposi's sarcoma of lymph nodes", "description": "" }, { "id": "DOID:8632", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8632", "name": "Kaposi's sarcoma of palate", "description": "" }, { "id": "DOID:8632", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8632", "name": "Kaposi's sarcoma of penis", "description": "" }, { "id": "DOID:8632", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8632", "name": "Kaposi's sarcoma of skin", "description": "" }, { "id": "DOID:8632", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8632", "name": "Kaposi's sarcoma of soft tissue", "description": "" }, { "id": "DOID:8632", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8632", "name": "Kaposi's sarcoma of soft tissues", "description": "" }, { "id": "DOID:8632", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8632", "name": "Kaposi's sarcoma of the CNS", "description": "" }, { "id": "DOID:8632", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8632", "name": "Kaposi's sarcoma of the gallbladder", "description": "" }, { "id": "DOID:8632", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8632", "name": "Kaposi's sarcoma of the prostate", "description": "" }, { "id": "DOID:8632", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8632", "name": "Kaposi's sarcoma, lung", "description": "" }, { "id": "DOID:8632", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8632", "name": "Kaposi's sarcoma, skin", "description": "" }, { "id": "DOID:8632", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8632", "name": "anal Kaposi's sarcoma", "description": "" }, { "id": "DOID:8632", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8632", "name": "cardiac Kaposi's sarcoma", "description": "" }, { "id": "DOID:8632", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8632", "name": "central nervous system Kaposi's sarcoma", "description": "" }, { "id": "DOID:8632", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8632", "name": "conjunctival Kaposi's sarcoma", "description": "" }, { "id": "DOID:8632", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8632", "name": "corneal Kaposi's sarcoma", "description": "" }, { "id": "DOID:8632", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8632", "name": "cutaneous Kaposi's sarcoma", "description": "" }, { "id": "DOID:8632", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8632", "name": "esophageal Kaposi's sarcoma", "description": "" }, { "id": "DOID:8632", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8632", "name": "gallbladder Kaposi's sarcoma", "description": "" }, { "id": "DOID:8632", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8632", "name": "gastric Kaposi's sarcoma", "description": "" }, { "id": "DOID:8632", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8632", "name": "intestinal Kaposi's sarcoma", "description": "" }, { "id": "DOID:8632", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8632", "name": "lymph node Kaposi's sarcoma", "description": "" }, { "id": "DOID:8632", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8632", "name": "lymphadenopathic Kaposi's sarcoma", "description": "" }, { "id": "DOID:8632", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8632", "name": "palate Kaposi's sarcoma", "description": "" }, { "id": "DOID:8632", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8632", "name": "penis Kaposi's sarcoma", "description": "" }, { "id": "DOID:8632", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8632", "name": "prostate Kaposi's sarcoma", "description": "" }, { "id": "DOID:8632", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8632", "name": "pulmonary Kaposi's sarcoma", "description": "" }, { "id": "DOID:8632", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8632", "name": "soft tissue Kaposi's sarcoma", "description": "" } ], "evidence": [ { "id": "8632", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8632" } ] }, { "disease_id": "DOID:8677", "recommended_name": { "id": "DOID:8677", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8677", "name": "perinatal necrotizing enterocolitis", "description": "" }, "synonyms": [ { "id": "DOID:8677", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8677", "name": "ENTEROCOLITIS NECROTIZING", "description": "" }, { "id": "DOID:8677", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8677", "name": "Necrotizing enterocolitis in fetus OR newborn", "description": "" }, { "id": "DOID:8677", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8677", "name": "Perinatal necrotising enterocolitis", "description": "" }, { "id": "DOID:8677", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8677", "name": "Pseudomembranous enterocolitis in newborn", "description": "" }, { "id": "DOID:8677", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8677", "name": "necrotizing enterocolitis", "description": "" } ], "evidence": [ { "id": "8677", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8677" } ] }, { "disease_id": "DOID:8778", "recommended_name": { "id": "DOID:8778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine." }, "synonyms": [ { "id": "DOID:8778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8778", "name": "Crohn disease", "description": "" }, { "id": "DOID:8778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8778", "name": "Crohn's disease of colon", "description": "" }, { "id": "DOID:8778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8778", "name": "Crohn's disease of large bowel", "description": "" }, { "id": "DOID:8778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8778", "name": "Granulomatous Colitis", "description": "" }, { "id": "DOID:8778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8778", "name": "Pediatric Crohn's disease", "description": "" } ], "evidence": [ { "id": "8778", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ] }, { "disease_id": "DOID: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: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:9119", "recommended_name": { "id": "DOID:9119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells." }, "synonyms": [ { "id": "DOID:9119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9119", "name": "AML - acute Myeloid Leukemia", "description": "" }, { "id": "DOID:9119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9119", "name": "Leukemia, Myelocytic, acute", "description": "" }, { "id": "DOID:9119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9119", "name": "acute myeloblastic leukaemia", "description": "" }, { "id": "DOID:9119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9119", "name": "acute myeloblastic leukemia", "description": "" }, { "id": "DOID:9119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9119", "name": "acute myelogenous leukaemia", "description": "" }, { "id": "DOID:9119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9119", "name": "acute myelogenous leukemia", "description": "" }, { "id": "DOID:9119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9119", "name": "acute myeloid leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myeloid leukemia", "description": "Acute myeloid leukemia (AML) is a group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. 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"MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type 2, protection against", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type 2, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type II, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "hypertension, insulin resistance-related, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "insulin resistance, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "maturity-onset diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus, susceptibility to", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, type 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "NIDDM1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "noninsulin-dependent diabetes mellitus 1", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "diabetes mellitus, noninsulin-dependent, 2", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "NIDDM2", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "diabetes mellitus, noninsulin-dependent, 2", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "noninsulin-dependent diabetes mellitus 2", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "diabetes mellitus, noninsulin-dependent, 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "diabetes mellitus, noninsulin-dependent, 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "diabetes mellitus, noninsulin-dependent, type 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "type 2 diabetes mellitus 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "NIDDM3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "noninsulin-dependent diabetes mellitus 3", "description": "" }, { "id": "MIM:125853", "resource": "MIM", "url": "https://www.omim.org/entry/125853", "name": "Type 2 diabetes mellitus", "description": "Type 2 diabetes mellitus" }, { "id": "MIM:601283", "resource": "MIM", "url": "https://www.omim.org/entry/601283", "name": "Type 2 diabetes mellitus 1", "description": "Type 2 diabetes mellitus 1" } ], "evidence": [ { "id": "9352", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ] }, { "disease_id": "DOID:9402", "recommended_name": { "id": "DOID:9402", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9402", "name": "epididymitis", "description": "" }, "synonyms": [], "evidence": [ { "id": "9402", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9402" } ] }, { "disease_id": "DOID:9408", "recommended_name": { "id": "DOID:9408", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9408", "name": "acute myocardial infarction", "description": "" }, "synonyms": [], "evidence": [ { "id": "9408", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9408" } ] }, { "disease_id": "DOID:9452", "recommended_name": { "id": "DOID:9452", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes." }, "synonyms": [ { "id": "DOID:9452", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9452", "name": "Fatty change of liver", "description": "" }, { "id": "DOID:9452", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9452", "name": "Steatosis of liver", "description": "" }, { "id": "DOID:9452", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9452", "name": "alcoholic fatty liver", "description": "" }, { "id": "DOID:9452", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9452", "name": "hepatic lipidosis", "description": "" }, { "id": "DOID:9452", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9452", "name": "SLD", "description": "" }, { "id": "DOID:9452", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9452", "name": "fatty liver disease", "description": "" }, { "id": "DOID:9452", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9452", "name": "hepatic steatosis", "description": "" }, { "id": "MONDO:0009220", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009220", "name": "visceral steatosis, congenital", "description": "" }, { "id": "MONDO:0009220", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009220", "name": "visceral steatosis, congenital", "description": "" }, { "id": "MONDO:0009220", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009220", "name": "White liver disease", "description": "" }, { "id": "MONDO:0009220", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009220", "name": "fatal neonatal hepatic steatosis", "description": "" }, { "id": "MONDO:0009220", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009220", "name": "fatty liver disease, congenital", "description": "" }, { "id": "MONDO:0009220", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009220", "name": "fatty metamorphosis of viscera", "description": "" }, { "id": "MONDO:0009220", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009220", "name": "steatosis of liver", "description": "" }, { "id": "MONDO:0009220", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009220", "name": "visceral steatosis", "description": "" } ], "evidence": [ { "id": "9452", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ] }, { "disease_id": "DOID:9719", "recommended_name": { "id": "DOID:9719", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9719", "name": "neovascular inflammatory vitreoretinopathy", "description": "A retinal and vitreous disease characterized by ocular inflammation, vascular dropout, large spots of hyperpigmentation, neovascularization of the peripheral and posterior retina, vitreous hemorrhage, and retinal detachment that has_material_basis_in heterozygous mutation in the CAPN5 gene on chromosome 11q13.5." }, "synonyms": [ { "id": "DOID:9719", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9719", "name": "ADNIV", "description": "" }, { "id": "DOID:9719", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9719", "name": "Retinitis proliferans", "description": "" }, { "id": "DOID:9719", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9719", "name": "proliferative vitreoretinopathy", "description": "" }, { "id": "DOID:9719", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9719", "name": "autosomal dominant neovascular inflammatory vitreoretinopathy", "description": "" }, { "id": "MONDO:0100450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100450", "name": "CAPN5-related vitreoretinopathy", "description": "An autosomal dominant vitreoretinopathy caused by variants in the CAPN5 gene. Additional features, such as developmental delay and hypotonia, have been reported in some patients." }, { "id": "MONDO:0100450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100450", "name": "proliferative vitreoretinopathy", "description": "" }, { "id": "MONDO:0100450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100450", "name": "ADNIV", "description": "" }, { "id": "MONDO:0100450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100450", "name": "CAPN5 vitreoretinopathy", "description": "" }, { "id": "MONDO:0100450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100450", "name": "VRNI", "description": "" }, { "id": "MONDO:0100450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100450", "name": "autosomal dominant neovascular inflammatory vitreoretinopathy", "description": "" }, { "id": "MONDO:0100450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100450", "name": "retinitis proliferans", "description": "" }, { "id": "MONDO:0100450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100450", "name": "vitreoretinopathy, neovascular inflammatory", "description": "" }, { "id": "MONDO:0100450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100450", "name": "vitreoretinopathy, neovascular inflammatory, autosomal dominant", "description": "" }, { "id": "MIM:193235", "resource": "MIM", "url": "https://www.omim.org/entry/193235", "name": "Vitreoretinopathy, neovascular inflammatory", "description": "Vitreoretinopathy, neovascular inflammatory" } ], "evidence": [ { "id": "9719", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9719" } ] }, { "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": "T1D", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "T1DM", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "diabetes mellitis type 1", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "diabetes mellitis type I", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "immune mediated diabetes", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "insulin dependent diabetes", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "insulin-dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "juvenile diabetes", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "type 1 diabetes", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "type I diabetes", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "type I diabetes mellitus", "description": "" }, { "id": "MIM:222100", "resource": "MIM", "url": "https://www.omim.org/entry/222100", "name": "Type 1 diabetes mellitus", "description": "Type 1 diabetes mellitus" } ], "evidence": [ { "id": "9744", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ] }, { "disease_id": "DOID:9970", "recommended_name": { "id": "DOID:9970", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness." }, "synonyms": [ { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "inherited obesity", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "genetic obesity", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "genetic obesity (disease)", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "leanness, inherited, autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "monogenic obesity", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, association with, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, early-onset, susceptibility to, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, late-onset, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, mild, early-onset, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, severe, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, severe, and type II diabetes, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, susceptibility to, Autosomal recessive", "description": "" }, { "id": "MIM:601665", "resource": "MIM", "url": "https://www.omim.org/entry/601665", "name": "Obesity", "description": "Obesity" } ], "evidence": [ { "id": "9970", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ] }, { "disease_id": "MONDO:0007845", "recommended_name": { "id": "MONDO:0007845", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007845", "name": "Kaposi sarcoma, susceptibility to", "description": "" }, "synonyms": [ { "id": "MONDO:0007845", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007845", "name": "Kaposi sarcoma, susceptibility to", "description": "" }, { "id": "MONDO:0007845", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007845", "name": "multicentric Castleman disease, susceptibility to", "description": "" }, { "id": "MONDO:0007845", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007845", "name": "multiple idiopathic pigmented hemangiosarcoma, susceptibility to", "description": "" }, { "id": "MONDO:0007845", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007845", "name": "susceptibility to Kaposi sarcoma", "description": "" } ], "evidence": [ { "id": "148000", "database": "MIM", "url": "https://www.omim.org/entry/148000" } ] } ], "snv": [ { "evidence": [ { "id": "rs776504834", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776504834" }, { "id": "rs776504834", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776504834" }, { "id": "rs776504834", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776504834#frequency_tab" }, { "id": "rs776504834", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776504834" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 133, "end_pos": 133, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRF->NRS).", "chr_id": "7", "chr_pos": "22729587", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F133", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P05231", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P05231" } ], "glycoeffect": [], "start_pos": 52, "end_pos": 52, "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "7", "chr_pos": "22727578", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R52", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", 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"" }, { "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": 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"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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "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" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P05231", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05231" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P05231", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05231" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P05231", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05231" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P05231", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05231" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P05231", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05231" } ], "disease": [ { "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" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P05231", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05231" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P05231", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05231" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P05231", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05231" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P05231", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05231" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P05231", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05231" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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Peptide", "id": "ENSP00000405150.1", "url": "https://www.ensembl.org/id/ENSP00000405150.1" } ] } }, { "isoform_ac": "P05231-1", "url": "https://www.uniprot.org/uniprotkb/P05231/entry#P05231-1", "sequence": { "sequence": "MNSFSTSAFGPVAFSLGLLLVLPAAFPAPVPPGEDSKDVAAPHRQPLTSSERIDKQIRYILDGISALRKETCNKSNMCESSKEALAENNLNLPKMAEKDGCFQSGFNEETCLVKIITGLLEFEVYLEYLQNRFESSEEQARAVQMSTKVLIQFLQKKAKNLDAITTPDPTTNASLLTKLQAQNQWLQDMTTHLILRSFKEFLQSSLRALRQM", "length": 212, "header": "sp|P05231-1|IL6_HUMAN Isoform 1 of Interleukin-6 OS=Homo sapiens OX=9606 GN=IL6 PE=1 SV=1 CANONICAL=P05231-1" }, "locus": { "chromosome": "7", "start_pos": 22731570, "end_pos": 22727263, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000404625.5", "url": "https://www.ensembl.org/id/ENST00000404625.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000385675.1", "url": "https://www.ensembl.org/id/ENSP00000385675.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "other", "prediction_tool": "", "prediction_tool_list": [ { "label": "" } ], "site_category": "reported", "site_category_dict": { "reported": true, "automatic_literature_mining": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 73, "start_aa": "Asn", "end_pos": 73, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn73", "evidence": [ { "id": "P05231", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05231#ptm_processing" }, { "id": "1883960", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1883960" }, { "id": "39251588", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39251588" }, { "id": "GLY_000481", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000481" }, { "id": "14970177", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/14970177" } ], "mining_tool": "RLIMS-G", "mining_tool_list": [ { "label": "RLIMS-G" } ], "filter_code": 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sialylation of the acid-labile subunit. Role in complex formation with insulin-like growth factor (IGF)-binding protein-3 and the IGFs.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Janosi JB, Firth SM, Bond JJ, Baxter RC, Delhanty PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10026136", "url": "https://glygen.org/publication/PubMed/10026136" } ] }, { "title": "Shedding of CD163, a novel regulatory mechanism for a member of the scavenger receptor cysteine-rich family.", "journal": "Biochemical and biophysical research communications", "date": "1999", "authors": "Droste A, Sorg C, Hogger P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9662834", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9662834" } ], "reference": [ { "type": "PubMed", "id": "10066432", "url": "https://glygen.org/publication/PubMed/10066432" } ] }, { "title": "The insulin-like 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