{ "uniprot_canonical_ac": "A0A0G2JWM7-1", "uniprot_ac": "A0A0G2JWM7", "uniprot_id": "A0A0G2JWM7_RAT", "mass": { "chemical_mass": 21459.0, "monoisotopic_mass": 21459.0 }, "refseq": { "ac": "XP_008757509", "name": "interferon lambda-2", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_008757509" }, "gene_names": [ { "name": "Ifnl1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A0G2JWM7", "id": "A0A0G2JWM7" }, { "name": "Ifnl1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_008757509", "id": "XP_008757509" } ], "protein_names": [ { "name": "Interferon, lambda 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A0A0G2JWM7" }, { "name": "interferon lambda-2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_008757509", "id": "XP_008757509" } ], "function": [], "disease": [ { "disease_id": "DOID:0080600", "recommended_name": { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "COVID-19", "description": "A Coronavirus infection that is characterized by fever, cough and shortness of breath and that has_material_basis_in SARS-CoV-2." }, "synonyms": [ { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "2019 Novel Coronavirus (2019-nCoV)", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "2019-nCoV infection", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "Wuhan coronavirus infection", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "Wuhan seafood market pneumonia virus infection", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "COVID19", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "SARS-CoV-2 infection", "description": "" } ], "evidence": [ { "id": "0080600", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080600" } ] }, { "disease_id": "DOID:12205", "recommended_name": { "id": "DOID:12205", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12205", "name": "dengue disease", "description": "A viral infectious disease that results in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted by Aedes mosquito bite. The infection has symptom fever, has symptom severe headache, has symptom severe pain behind the eyes, has symptom joint pain, has symptom muscle and bone pain, has symptom rash, and has symptom mild bleeding." }, "synonyms": [ { "id": "DOID:12205", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12205", "name": "Dengue Fever", "description": "" }, { "id": "DOID:12205", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12205", "name": "breakbone fever", "description": "" }, { "id": "DOID:12205", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12205", "name": "classic dengue", "description": "" } ], "evidence": [ { "id": "12205", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12205" } ] }, { "disease_id": "DOID:12206", "recommended_name": { "id": "DOID:12206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12206", "name": "dengue hemorrhagic fever", "description": "A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever." }, "synonyms": [ { "id": "DOID:12206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12206", "name": "DHF", "description": "" } ], "evidence": [ { "id": "12206", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12206" } ] }, { "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: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:2841", "recommended_name": { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing." }, "synonyms": [ { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "Exercise induced asthma", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "bronchial hyperreactivity", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "chronic obstructive asthma", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "chronic obstructive asthma with acute exacerbation", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "chronic obstructive asthma with status asthmaticus", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "exercise-induced asthma", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "inherited susceptibility to asthma", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, nocturnal, susceptibility to", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, bronchial", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, diminished response to Antileukotriene treatment 1N", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, protection against", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, susceptibility to", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma-related traits, susceptibility to", "description": "" }, { "id": "MIM:600807", "resource": "MIM", "url": "https://www.omim.org/entry/600807", "name": "Asthma", "description": "Asthma" } ], "evidence": [ { "id": "2841", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ] }, { "disease_id": "DOID:2917", "recommended_name": { "id": "DOID:2917", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2917", "name": "cryoglobulinemia", "description": "A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures." }, "synonyms": [ { "id": "DOID:2917", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2917", "name": "Cryoimmunoglobulinaemia", "description": "" } ], "evidence": [ { "id": "2917", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2917" } ] }, { "disease_id": "DOID:321", "recommended_name": { "id": "DOID:321", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:321", "name": "tropical spastic paraparesis", "description": "A viral infectious disease that results in inflammation located in spinal cord, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted by sexual contact, and transmitted by breast feeding. The infection has symptom spastic weakness of both legs, has symptom muscle stiffness, has symptom sensory disturbance, and has symptom spasms." }, "synonyms": [ { "id": "DOID:321", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:321", "name": "HTLV-associated myelopathy", "description": "" }, { "id": "DOID:321", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:321", "name": "Tropical spastic paralysis", "description": "" }, { "id": "DOID:321", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:321", "name": "Tropical spastic paraplegia", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "tropical spastic paraparesis", "description": "Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection." }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "HTLV-1-associated myelopathy/tropical spastic paraparesis", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "HTLV-associated myelopathy", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "Human T-lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "Human T-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "TSP", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "ham/TSP", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "tropical spastic paralysis", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "tropical spastic paraplegia", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "HTLV-1 associated myelopathy/tropical spastic paraparesis", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "Human T-cell leukaemia virus type 1 associated myelopathy/tropical spastic paraparesis", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "Human T-cell leukemia virus type 1 associated myelopathy/tropical spastic paraparesis", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "familial spastic paraparesis, HTLV-1-associated", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "ham", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "myelopathy, HTLV-1-associated", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "tropical spastic paraparesis (formerly)", "description": "" } ], "evidence": [ { "id": "321", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:321" } ] }, { "disease_id": "DOID:5082", "recommended_name": { "id": "DOID:5082", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5082", "name": "liver cirrhosis", "description": "" }, "synonyms": [ { "id": "DOID:5082", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5082", "name": "Cirrhosis", "description": "" }, { "id": "DOID:5082", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5082", "name": "cirrhosis of liver", "description": "" }, { "id": "MONDO:0005155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005155", "name": "cirrhosis of liver", "description": "A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholism, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy." }, { "id": "MONDO:0005155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005155", "name": "cirrhosis", "description": "" }, { "id": "MONDO:0005155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005155", "name": "cirrhosis of liver", "description": "" }, { "id": "MONDO:0005155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005155", "name": "liver cirrhosis", "description": "" } ], "evidence": [ { "id": "5082", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ] }, { "disease_id": "DOID: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:8970", "recommended_name": { "id": "DOID:8970", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8970", "name": "subacute sclerosing panencephalitis", "description": "A viral infectious disease that results_in infection located_in brain and that has_material_basis_in Measles virus which is immune resistant." }, 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