{ "uniprot_canonical_ac": "P18824-1", "uniprot_ac": "P18824", "uniprot_id": "ARM_DROME", "mass": { "chemical_mass": 91153.0, "monoisotopic_mass": 91153.0 }, "refseq": { "ac": "NP_001259149", "name": "armadillo, isoform F", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001259149" }, "gene_names": [ { "name": "arm", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P18824", "id": "P18824" }, { "name": "ARM", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P18824", "id": "P18824" }, { "name": "Arm; ARM; Armadillo; beta-cat; beta-Cat; beta-cat-arm; beta-catenin; beta-Catenin; betacat; betaCatenin; bgr;-Cat; CG11579; Dm Arm; dmCTNNB1; Dmel\\CG11579; EG:86E4.6; l(1)2Bv; l(1)arm; l(1)G0192; l(1)G0234; l(1)G0410; t12687 ALR Dm", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001259149", "id": "NP_001259149" }, { "name": "Arm", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P18824", "id": "P18824" }, { "name": "CG11579", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P18824", "id": "P18824" }, { "name": "Dm Arm", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P18824", "id": "P18824" }, { "name": "Dmel\\CG11579", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P18824", "id": "P18824" }, { "name": "Dmel_CG11579", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P18824", "id": "P18824" }, { "name": "EG:86E4.6", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P18824", "id": "P18824" }, { "name": "arm", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001259149", "id": "NP_001259149" }, { "name": "beta-Cat", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P18824", "id": "P18824" }, { "name": "beta-cat-arm", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P18824", "id": "P18824" }, { "name": "beta-catenin", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P18824", "id": "P18824" }, { "name": "beta-cat", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P18824", "id": "P18824" }, { "name": "betacat", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P18824", "id": "P18824" }, { "name": "bgr:-Cat", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P18824", "id": "P18824" }, { "name": "l(1)2Bv", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P18824", "id": "P18824" }, { "name": "l(1)G0192", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P18824", "id": "P18824" }, { "name": "l(1)G0234", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P18824", "id": "P18824" }, { "name": "l(1)G0410", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P18824", "id": "P18824" }, { "name": "l(1)arm", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P18824", "id": "P18824" }, { "name": "t12687 ALR Dm", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P18824", "id": "P18824" } ], "protein_names": [ { "name": "Armadillo segment polarity protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P18824" }, { "name": "CG11579-PF; arm-PF; amardillo; betaCatenin; Beta-catenin/Arm; Armadillo/beta-catenin; beta-Catenin; alpha-Catenin; beta-catenin/Armadillo; Armadillo/bgr;-catenin; armadillo; b-catenin; Armadillo(Arm)/beta-catenin", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001259149", "id": "NP_001259149" }, { "name": "armadillo, isoform F", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001259149", "id": "NP_001259149" } ], "function": [ { "annotation": "Isoform neural may associate with CadN and participate in the transmission of developmental information. Can associate with alpha-catenin. Isoform cytoplasmic accumulates through wg signaling; arm function in wg signal transduction is required early in development for determination of neuroblast fate. Arm and Abl proteins function cooperatively at adherens junctions in both the CNS and epidermis.", "evidence": [ { "database": "UniProtKB", "id": "P18824", "url": "https://www.uniprot.org/uniprot/P18824#function" }, { "database": "PubMed", "id": "9635189", "url": "https://glygen.org/publication/PubMed/9635189" } ] } ], "disease": [ { "disease_id": "DOID:0050431", "recommended_name": { "id": "DOID:0050431", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050431", "name": "arrhythmogenic right ventricular cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle." }, "synonyms": [ { "id": "DOID:0050431", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050431", "name": "arrhythmogenic right ventricular dysplasia/cardiomyopathy", "description": "" }, { "id": "DOID:0050431", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050431", "name": "ARVC", "description": "" }, { "id": "DOID:0050431", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050431", "name": "ARVC cardiomyopathy", "description": "" }, { "id": "DOID:0050431", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050431", "name": "ARVD", "description": "" }, { "id": "DOID:0050431", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050431", "name": "arrhythmogenic right ventricular dysplasia", "description": "" }, { "id": "MONDO:0007152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007152", "name": "arrhythmogenic right ventricular dysplasia 1", "description": "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TGFB3 gene." }, { "id": "MONDO:0007152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007152", "name": "ARVC1", "description": "" }, { "id": "MONDO:0007152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007152", "name": "ARVD1", "description": "" }, { "id": "MONDO:0007152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007152", "name": "TGFB3 arrhythmogenic right ventricular cardiomyopathy", "description": "" }, { "id": "MONDO:0007152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007152", "name": "arrhythmogenic right ventricular cardiomyopathy 1", "description": "" }, { "id": "MONDO:0007152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007152", "name": "arrhythmogenic right ventricular cardiomyopathy caused by mutation in TGFB3", "description": "" }, { "id": "MONDO:0007152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007152", "name": "arrhythmogenic right ventricular dysplasia type 1", "description": "" }, { "id": "MONDO:0007152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007152", "name": "arrhythmogenic right ventricular dysplasia, familial, type 1", "description": "" }, { "id": "MONDO:0007152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007152", "name": "familial arrhythmogenic right ventricular dysplasia 1", "description": "" }, { "id": "MONDO:0007152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007152", "name": "Uhl anomaly", "description": "" }, { "id": "MONDO:0007152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007152", "name": "arrhythmogenic right ventricular dysplasia, familial, 1", "description": "" }, { "id": "MONDO:0007152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007152", "name": "cardiomyopathy, right ventricular dilated", "description": "" }, { "id": "MIM:107970", "resource": "MIM", "url": "https://www.omim.org/entry/107970", "name": "Arrhythmogenic right ventricular dysplasia, familial, 1", "description": "Arrhythmogenic right ventricular dysplasia, familial, 1" } ], "evidence": [ { "id": "0050431", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050431" } ] }, { "disease_id": "DOID:0050535", "recommended_name": { "id": "DOID:0050535", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050535", "name": "exudative vitreoretinopathy", "description": "A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina." }, "synonyms": [ { "id": "DOID:0050535", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050535", "name": "FEVR", "description": "" }, { "id": "DOID:0050535", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050535", "name": "familial exudative vitreoretinopathy", "description": "" }, { "id": "MONDO:0007589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007589", "name": "exudative vitreoretinopathy 1", "description": "" }, { "id": "MONDO:0007589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007589", "name": "exudative vitreoretinopathy 1", "description": "" }, { "id": "MONDO:0007589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007589", "name": "exudative vitreoretinopathy type 1", "description": "" }, { "id": "MONDO:0007589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007589", "name": "Criswick-Schepens syndrome", "description": "" }, { "id": "MONDO:0007589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007589", "name": "EVR1", "description": "" }, { "id": "MONDO:0007589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007589", "name": "FEVR, autosomal dominant", "description": "" }, { "id": "MONDO:0007589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007589", "name": "exudative vitreoretinopathy, familial, autosomal dominant", "description": "" }, { "id": "MONDO:0007589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007589", "name": "retinopathy of prematurity", "description": "" }, { "id": "MIM:133780", "resource": "MIM", "url": "https://www.omim.org/entry/133780", "name": "Vitreoretinopathy, exudative 1", "description": "Vitreoretinopathy, exudative 1" } ], "evidence": [ { "id": "0050535", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050535" } ] }, { "disease_id": "DOID:0050700", "recommended_name": { "id": "DOID:0050700", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle." }, "synonyms": [ { "id": "DOID:0050700", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050700", "name": "Cardiomyopathies", "description": "" } ], "evidence": [ { "id": "0050700", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ] }, { "disease_id": "DOID:0050902", "recommended_name": { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050902", "name": "medulloblastoma", "description": "An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor." }, "synonyms": [ { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050902", "name": "CNS PNET", "description": "" }, { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050902", "name": "CPNET", "description": "" }, { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050902", "name": "brain medulloblastoma", "description": "" }, { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050902", "name": "infratentorial primitive neuroectodermal tumor", "description": "" }, { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050902", "name": "localized primitive neuroectodermal tumor", "description": "" }, { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050902", "name": "Medulloblastoma, histologically defined", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma", "description": "A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity." }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "brain medulloblastoma", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "cerebellar medulloblastoma", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "cerebellum embryonal neoplasm", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma, autosomal recessive, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma, desmoplastic, autosomal recessive, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma, malignant", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma, somatic", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastomas", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "CNS PNET", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "CPNET", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "MDB", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "infratentorial primitive neuroectodermal tumor", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "infratentorial primitive neuroectodermal tumour", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "localised primitive neuroectodermal tumour", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "localized primitive neuroectodermal tumor", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma with extensive nodularity", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma, desmoplastic", "description": "" }, { "id": "MIM:155255", "resource": "MIM", "url": "https://www.omim.org/entry/155255", "name": "Medulloblastoma", "description": "Medulloblastoma" } ], "evidence": [ { "id": "0050902", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050902" } ] }, { "disease_id": "DOID:0060041", "recommended_name": { "id": "DOID:0060041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior." }, "synonyms": [], "evidence": [ { "id": "0060041", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "disease_id": "DOID:0070049", "recommended_name": { "id": "DOID:0070049", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070049", "name": "autosomal dominant intellectual developmental disorder 19", "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTNNB1 gene on chromosome 3p22.1." }, "synonyms": [ { "id": "DOID:0070049", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070049", "name": "autosomal dominant non-syndromic intellectual disability 19", "description": "" }, { "id": "DOID:0070049", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070049", "name": "MRD19", "description": "" }, { "id": "DOID:0070049", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070049", "name": "autosomal dominant mental retardation 19", "description": "" }, { "id": "MONDO:0014035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014035", "name": "severe intellectual disability-progressive spastic diplegia syndrome", "description": "Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability. Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity ; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person." }, { "id": "MONDO:0014035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014035", "name": "MRD19", "description": "" }, { "id": "MONDO:0014035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014035", "name": "autosomal dominant intellectual disability 19", "description": "" }, { "id": "MONDO:0014035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014035", "name": "autosomal dominant mental retardation 19", "description": "" }, { "id": "MONDO:0014035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014035", "name": "intellectual disability, autosomal dominant type 19", "description": "" }, { "id": "MONDO:0014035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014035", "name": "mental retardation, autosomal dominant type 19", "description": "" }, { "id": "MONDO:0014035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014035", "name": "neurodevelopmental disorder with spastic diplegia and visual defects", "description": "" }, { "id": "MONDO:0014035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014035", "name": "severe intellectual disability-progressive spastic diplegia syndrome", "description": "" }, { "id": "MONDO:0014035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014035", "name": "CTNNB1-related intellectual disability", "description": "" }, { "id": "MONDO:0014035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014035", "name": "autosomal dominant non-syndromic intellectual disability 19", "description": "" }, { "id": "MONDO:0014035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014035", "name": "intellectual disability, autosomal dominant 19", "description": "" }, { "id": "MONDO:0014035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014035", "name": "mental retardation, autosomal dominant 19", "description": "" }, { "id": "MIM:615075", "resource": "MIM", "url": "https://www.omim.org/entry/615075", "name": "Neurodevelopmental disorder with spastic diplegia and visual defects", "description": "Neurodevelopmental disorder with spastic diplegia and visual defects" } ], "evidence": [ { "id": "0070049", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0070049" } ] }, { "disease_id": "DOID:0080264", "recommended_name": { "id": "DOID:0080264", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080264", "name": "exudative vitreoretinopathy 7", "description": "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the CTNNB1 gene on chromosome 3p22.1." }, "synonyms": [ { "id": "DOID:0080264", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080264", "name": "EVR7", "description": "" }, { "id": "MONDO:0033123", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033123", "name": "exudative vitreoretinopathy 7", "description": "" }, { "id": "MONDO:0033123", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033123", "name": "exudative vitreoretinopathy 7", "description": "" }, { "id": "MONDO:0033123", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033123", "name": "EVR7", "description": "" }, { "id": "MIM:617572", "resource": "MIM", "url": "https://www.omim.org/entry/617572", "name": "Vitreoretinopathy, exudative 7", "description": "Vitreoretinopathy, exudative 7" } ], "evidence": [ { "id": "0080264", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080264" } ] }, { "disease_id": "DOID:0080365", "recommended_name": { "id": "DOID:0080365", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080365", "name": "endometrial hyperplasia", "description": "An uterine benign neoplasm that is characterized by excessive proliferation of the cells of the endometrium." }, "synonyms": [], "evidence": [ { "id": "0080365", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080365" } ] }, { "disease_id": "DOID:0080551", "recommended_name": { "id": "DOID:0080551", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080551", "name": "Naxos disease", "description": "A nonepidermolytic palmoplantar keratoderma that is characterized by palmoplantar keratoderma, woolly hair and arrhythmogenic right ventricular cardiomyopathy and that has_material_basis_in homozygous mutation in the plakoglobin gene on chromosome 17q21." }, "synonyms": [ { "id": "MONDO:0011017", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011017", "name": "Naxos disease", "description": "A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma." }, { "id": "MONDO:0011017", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011017", "name": "KWWH type I", "description": "" }, { "id": "MONDO:0011017", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011017", "name": "NAXOS disease", "description": "" }, { "id": "MONDO:0011017", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011017", "name": "NXD", "description": "" }, { "id": "MONDO:0011017", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011017", "name": "Naxos disease", "description": "" }, { "id": "MONDO:0011017", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011017", "name": "keratoderma with woolly hair type I", "description": "" }, { "id": "MONDO:0011017", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011017", "name": "keratoderma with wooly hair type I", "description": "" }, { "id": "MONDO:0011017", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011017", "name": "keratosis palmoplantaris with arrythmogenic cardiomyopathy", "description": "" }, { "id": "MONDO:0011017", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011017", "name": "palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy", "description": "" }, { "id": "MONDO:0011017", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011017", "name": "palmoplantar keratoderma with arrythmogenic cardiomyopathy", "description": "" }, { "id": "MONDO:0011017", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011017", "name": "Mal De Naxos", "description": "" }, { "id": "MONDO:0011017", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011017", "name": "cardiomyopathy, arrhythmogenic right ventricular, with skin, hair, and nail abnormalities", "description": "" }, { "id": "MONDO:0011017", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011017", "name": "keratosis palmoplantaris arrythmogenic cardiomyopathy woolly hair", "description": "" }, { "id": "MONDO:0011017", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011017", "name": "keratosis palmoplantaris arrythmogenic cardiomyopathy wooly hair", "description": "" }, { "id": "MONDO:0011017", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011017", "name": "keratosis palmoplantaris with arrhythmogenic cardiomyopathy", "description": "" }, { "id": "MONDO:0011017", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011017", "name": "palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair", "description": "" }, { "id": "MONDO:0011017", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011017", "name": "palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and wooly hair", "description": "" }, { "id": "MONDO:0011017", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011017", "name": "woolly hair palmoplantar keratoderma cardiac abnormalities", "description": "" }, { "id": "MONDO:0011017", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011017", "name": "woolly hair, palmoplantar keratoderma, and Cardiac abnormalities", "description": "" }, { "id": "MONDO:0011017", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011017", "name": "wooly hair palmoplantar keratoderma cardiac abnormalities", "description": "" }, { "id": "MONDO:0011017", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011017", "name": "wooly hair, palmoplantar keratoderma, and Cardiac abnormalities", "description": "" }, { "id": "MIM:601214", "resource": "MIM", "url": "https://www.omim.org/entry/601214", "name": "Naxos disease", "description": "Naxos disease" } ], "evidence": [ { "id": "0080551", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080551" } ] }, { "disease_id": "DOID:0110083", "recommended_name": { "id": "DOID:0110083", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110083", "name": "arrhythmogenic right ventricular dysplasia 12", "description": "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding junction plakoglobin (JUP) on chromosome 17q21." }, "synonyms": [ { "id": "DOID:0110083", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110083", "name": "ARVC12", "description": "" }, { "id": "DOID:0110083", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110083", "name": "ARVD12", "description": "" }, { "id": "DOID:0110083", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110083", "name": "arrhythmogenic right ventricular cardiomyopathy 12", "description": "" }, { "id": "DOID:0110083", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110083", "name": "familial arrhythmogenic right ventricular dysplasia 12", "description": "" }, { "id": "MONDO:0012684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012684", "name": "arrhythmogenic right ventricular dysplasia 12", "description": "Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the JUP gene." }, { "id": "MONDO:0012684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012684", "name": "ARVC12", "description": "" }, { "id": "MONDO:0012684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012684", "name": "ARVD12", "description": "" }, { "id": "MONDO:0012684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012684", "name": "JUP familial isolated arrhythmogenic right ventricular dysplasia", "description": "" }, { "id": "MONDO:0012684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012684", "name": "arrhythmogenic right ventricular cardiomyopathy 12", "description": "" }, { "id": "MONDO:0012684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012684", "name": "arrhythmogenic right ventricular dysplasia 12", "description": "" }, { "id": "MONDO:0012684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012684", "name": "arrhythmogenic right ventricular dysplasia type 12", "description": "" }, { "id": "MONDO:0012684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012684", "name": "arrhythmogenic right ventricular dysplasia, familial, type 12", "description": "" }, { "id": "MONDO:0012684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012684", "name": "familial arrhythmogenic right ventricular dysplasia 12", "description": "" }, { "id": "MONDO:0012684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012684", "name": "familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in JUP", "description": "" }, { "id": "MONDO:0012684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012684", "name": "arrhythmogenic right ventricular dysplasia, familial, 12", "description": "" }, { "id": "MIM:611528", "resource": "MIM", "url": "https://www.omim.org/entry/611528", "name": "Arrhythmogenic right ventricular dysplasia, familial, 12", "description": "Arrhythmogenic right ventricular dysplasia, familial, 12" } ], "evidence": [ { "id": "0110083", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110083" } ] }, { "disease_id": "DOID:0111535", "recommended_name": { "id": "DOID:0111535", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111535", "name": "progressive osseous heteroplasia", "description": "A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of the GNAS gene on chromosome 20q13.32." }, "synonyms": [ { "id": "DOID:0111535", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111535", "name": "POH", "description": "" }, { "id": "DOID:0111535", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111535", "name": "ectopic ossification familial type", "description": "" }, { "id": "DOID:0111535", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111535", "name": "familial ectopic ossification", "description": "" }, { "id": "DOID:0111535", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111535", "name": "osteoma cutis", "description": "" }, { "id": "MONDO:0008153", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008153", "name": "progressive osseous heteroplasia", "description": "A rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation." }, { "id": "MONDO:0008153", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008153", "name": "familial ectopic ossification", "description": "" }, { "id": "MONDO:0008153", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008153", "name": "poh", "description": "" }, { "id": "MONDO:0008153", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008153", "name": "ectopic ossification familial type", "description": "" }, { "id": "MONDO:0008153", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008153", "name": "ectopic ossification, familial", "description": "" }, { "id": "MONDO:0008153", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008153", "name": "osseous heteroplasia, progressive", "description": "" }, { "id": "MONDO:0008153", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008153", "name": "osteoma cutis", "description": "" }, { "id": "MIM:166350", "resource": "MIM", "url": "https://www.omim.org/entry/166350", "name": "Progressive osseous heteroplasia", "description": "Progressive osseous heteroplasia" } ], "evidence": [ { "id": "0111535", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111535" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic 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"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, 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"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, 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"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 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"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 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"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": 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{ "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "evidence": [ { "id": "1324", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:1380", "recommended_name": { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus." }, "synonyms": [ { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "endometrial Ca", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "endometrial neoplasm", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "malignant 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"malignant endometrial neoplasm", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "malignant endometrium neoplasm", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "malignant neoplasm of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "primary malignant neoplasm of endometrium", "description": "" }, { "id": "MIM:608089", "resource": "MIM", "url": "https://www.omim.org/entry/608089", "name": "Endometrial cancer", "description": "Endometrial cancer" } ], "evidence": [ { "id": "1380", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ] }, { "disease_id": "DOID:162", "recommended_name": { "id": "DOID:162", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis." }, "synonyms": [ { "id": "DOID:162", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:162", "name": "malignant neoplasm", "description": "" }, { "id": "DOID:162", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:162", "name": "malignant tumor", "description": "" }, { "id": "DOID:162", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:162", "name": "primary cancer", "description": "" } ], "evidence": [ { "id": "162", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:162" } ] }, { "disease_id": "DOID:182", "recommended_name": { "id": "DOID:182", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:182", "name": "calcinosis", "description": "A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue." }, "synonyms": [ { "id": "DOID:182", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:182", "name": "Pathologically calcified structure", "description": "" }, { "id": "DOID:182", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:182", "name": "pathologic calcification", "description": "" } ], "evidence": [ { "id": "182", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:182" } ] }, { "disease_id": "DOID:1911", "recommended_name": { "id": "DOID:1911", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1911", "name": "endodermal sinus tumor", "description": "A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo." }, "synonyms": [ { "id": 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"Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1911" } ] }, { "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:2154", "recommended_name": { "id": "DOID:2154", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2154", "name": "nephroblastoma", "description": "A kidney cancer that affects the kidneys and typically located_in children." }, "synonyms": [ { "id": "DOID:2154", "resource": "Disease Ontology", "url": 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tumor 1", "description": "" }, { "id": "MONDO:0008679", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008679", "name": "Wilms tumor type 1", "description": "" }, { "id": "MONDO:0008679", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008679", "name": "Wilms tumor, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008679", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008679", "name": "Wilms tumor, somatic", "description": "" }, { "id": "MONDO:0008679", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008679", "name": "Wilms tumor, type 1, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008679", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008679", "name": "Wilms tumour type 1", "description": "" }, { "id": "MONDO:0008679", "resource": "MONDO", "url": 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"DOID:234", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:234", "name": "adenocarcinoma of colon", "description": "" } ], "evidence": [ { "id": "234", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:234" } ] }, { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, epithelial", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "primary ovarian cancer", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "evidence": [ { "id": "2394", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] }, { "disease_id": "DOID:2671", "recommended_name": { "id": "DOID:2671", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2671", "name": "transitional cell carcinoma", "description": "A carcinoma that derives_from transitional epithelial cells." }, "synonyms": [ { "id": "DOID:2671", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2671", "name": "transitional carcinoma", "description": "" }, { "id": "DOID:2671", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2671", "name": "transitional cell tumor", "description": "" }, { "id": "DOID:2671", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2671", "name": "urothelial cell carcinoma", "description": "" } ], "evidence": [ { "id": "2671", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2671" } ] }, { "disease_id": "DOID:289", "recommended_name": { "id": "DOID:289", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body." }, "synonyms": [], "evidence": [ { "id": "289", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:289" } ] }, { "disease_id": "DOID:2999", "recommended_name": { "id": "DOID:2999", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2999", "name": "granulosa cell tumor", "description": "A sex cord-gonadal stromal tumor that has_material_basis_in granulosa cells and arises from the sex cord stroma." }, "synonyms": [ { "id": "DOID:2999", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2999", "name": "Granulosa cell neoplasm", "description": "" }, { "id": "DOID:2999", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2999", "name": "Granulosa cell tumor, adult type", "description": "" }, { "id": "DOID:2999", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2999", "name": "Granulosa cell tumour, sarcomatoid", "description": "" }, { "id": "DOID:2999", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2999", "name": "malignant granulosa cell neoplasm", "description": "" } ], "evidence": [ { "id": "2999", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2999" } ] }, { "disease_id": "DOID:3008", "recommended_name": { "id": "DOID:3008", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3008", "name": "invasive ductal carcinoma", "description": "A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated." }, "synonyms": [ { "id": "DOID:3008", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3008", "name": "Infiltrating ductal carcinoma of breast", "description": "" }, { "id": "DOID:3008", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3008", "name": "Invasive ductal carcinoma, NST", "description": "" }, { "id": "DOID:3008", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3008", "name": "ductal adenocarcinoma", "description": "" } ], "evidence": [ { "id": "3008", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3008" } ] }, { "disease_id": "DOID:305", "recommended_name": { "id": "DOID:305", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:305", "name": "carcinoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." }, "synonyms": [ { "id": "DOID:305", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:305", "name": "epithelial cancer", "description": "" }, { "id": "DOID:305", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:305", "name": "epithelioma", "description": "" }, { "id": "DOID:305", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:305", "name": "malignant Epithelioma", "description": "" } ], "evidence": [ { "id": "305", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:305" } ] }, { "disease_id": "DOID:3307", "recommended_name": { "id": "DOID:3307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3307", "name": "teratoma", "description": "A germ cell and embryonal cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers." }, "synonyms": [], "evidence": [ { "id": "3307", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3307" } ] }, { "disease_id": "DOID:3390", "recommended_name": { "id": "DOID:3390", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3390", "name": "palmoplantar keratosis", "description": "A keratosis characterized by abnormal thickening of the palms and the soles." }, "synonyms": [ { "id": "DOID:3390", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3390", "name": "Palmoplantar Keratoderma", "description": "" }, { "id": "DOID:3390", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3390", "name": "Keratosis palmaris et plantaris", "description": "" }, { "id": "DOID:3390", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3390", "name": "palmo-plantar keratodermas", "description": "" } ], "evidence": [ { "id": "3390", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3390" } ] }, { "disease_id": "DOID:3457", "recommended_name": { "id": "DOID:3457", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3457", "name": "invasive lobular carcinoma", "description": "A breast lobular carcinoma that is characterized by infiltration into the tissue of the breast outside of the lobule where it originated." }, "synonyms": [ { "id": "DOID:3457", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3457", "name": "Lobular carcinoma", "description": "" }, { "id": "DOID:3457", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3457", "name": "Lobular carcinoma of breast", "description": "" }, { "id": "DOID:3457", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3457", "name": "Lobular carcinoma of the breast", "description": "" } ], "evidence": [ { "id": "3457", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3457" } ] }, { "disease_id": "DOID:3905", "recommended_name": { "id": "DOID:3905", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3905", "name": "lung carcinoma", "description": "A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis." }, "synonyms": [ { "id": "DOID:3905", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3905", "name": "cancer of lung", "description": "" } ], "evidence": [ { "id": "3905", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3905" } ] }, { "disease_id": "DOID:3907", "recommended_name": { "id": "DOID:3907", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3907", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell." }, "synonyms": [ { "id": "DOID:3907", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3907", "name": "Epidermoid cell carcinoma of the lung", "description": "" } ], "evidence": [ { "id": "3907", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3907" } ] }, { "disease_id": "DOID:3969", "recommended_name": { "id": "DOID:3969", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3969", "name": "thyroid gland papillary carcinoma", "description": "A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer and arises from the follicular cells of the thyroid gland." }, "synonyms": [ { "id": "DOID:3969", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3969", "name": "Papillary carcinoma of the Thyroid gland", "description": "" }, { "id": "MONDO:0008567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008567", "name": "thyroid cancer, nonmedullary, 1", "description": "" }, { "id": "MONDO:0008567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008567", "name": "thyroid cancer, nonmedullary, 1", "description": "" }, { "id": "MONDO:0008567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008567", "name": "thyroid cancer, nonmedullary, type 1", "description": "" }, { "id": "MONDO:0008567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008567", "name": "NMTC1", "description": "" }, { "id": "MONDO:0008567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008567", "name": "familial nonmedullary thyroid cancer, papillary", "description": "" }, { "id": "MONDO:0008567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008567", "name": "nonmedullary thyroid carcinoma, papillary", "description": "" }, { "id": "MONDO:0008567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008567", "name": "papillary carcinoma of thyroid", "description": "" }, { "id": "MIM:188550", "resource": "MIM", "url": "https://www.omim.org/entry/188550", "name": "Thyroid cancer, non-medullary, 1", "description": "Thyroid cancer, non-medullary, 1" } ], "evidence": [ { "id": "3969", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3969" } ] }, { "disease_id": "DOID:4440", "recommended_name": { "id": "DOID:4440", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4440", "name": "seminoma", "description": "A germinoma that has_material_basis_in cells that make sperm and eggs." }, "synonyms": [ { "id": "DOID:4440", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4440", "name": "Seminoma, Pure", "description": "" } ], "evidence": [ { "id": "4440", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4440" } ] }, { "disease_id": "DOID:4450", "recommended_name": { "id": "DOID:4450", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney." }, "synonyms": [ { "id": "DOID:4450", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4450", "name": "RCC", "description": "" }, { "id": "DOID:4450", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4450", "name": "adenocarcinoma of kidney", "description": "" }, { "id": "DOID:4450", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4450", "name": "hypernephroma", "description": "" }, { "id": "MONDO:0010456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010456", "name": "renal cell carcinoma, Xp11-associated", "description": "" }, { "id": "MONDO:0010456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010456", "name": "renal cell carcinoma, Xp11-associated", "description": "" }, { "id": "MONDO:0010456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010456", "name": "renal cell carcinoma, papillary, 1", "description": "" }, { "id": "MONDO:0010456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010456", "name": "RCCX1", "description": "" } ], "evidence": [ { "id": "4450", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ] }, { "disease_id": "DOID:4603", "recommended_name": { "id": "DOID:4603", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4603", "name": "epidermolytic hyperkeratosis", "description": "An ichthyosis that is characterized by generalized erythema, skin blisters and skin fragility, manifested at birth." }, "synonyms": [ { "id": "DOID:4603", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4603", "name": "Bullous ichthyosiform erythroderma", "description": "" }, { "id": "DOID:4603", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4603", "name": "Epidermolytic palmoplantar hyperkeratosis", "description": "" }, { "id": "DOID:4603", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4603", "name": "bullous congenital ichthyosiform erythroderma", "description": "" }, { "id": "DOID:4603", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4603", "name": "epidermolytic ichthyosis", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "epidermolytic ichthyosis", "description": "A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic." }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "BCIE", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "EHK", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "EI", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "bullous congenital ichthyosiform erythroderma", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "bullous congenital ichthyosiform erythroderma of Brock", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "bullous ichthyosis", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "epidermolytic hyperkeratosis", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "epidermolytic ichthyosis", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "epidermolytic palmoplantar hyperkeratosis", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "ichthyosis hystrix Brocq type", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "autosomal dominant epidermolytic ichthyosis", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "bullous erythroderma Ichthyosiformis congenita of Brocq", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "bullous ichthyosiform erythroderma", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "bullous ichthyosiform erythroderma congenita", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "congenital bullous ichthyosiform erythroderma", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "epidermolytic hyperkeratosis, late-onset", "description": "" }, { "id": "MIM:113800", "resource": "MIM", "url": "https://www.omim.org/entry/113800", "name": "Epidermolytic hyperkeratosis", "description": "Epidermolytic hyperkeratosis" } ], "evidence": [ { "id": "4603", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4603" } ] }, { "disease_id": "DOID:5015", "recommended_name": { "id": "DOID:5015", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5015", "name": "fibrolamellar carcinoma", "description": "A hepatocellular carcinoma characterized microscopically by laminated fibrous layers interspersed between the tumour cells. The polygonal, deeply eosinophilic tumor cells arise in non-cirrhotic livers." }, "synonyms": [ { "id": "DOID:5015", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5015", "name": "Fibrolamellar hepatocellular carcinoma", "description": "" }, { "id": "DOID:5015", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5015", "name": "Hepatocellular carcinoma, fibrolamellar", "description": "" }, { "id": "DOID:5015", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5015", "name": "Oncocytic Hepatocellular tumor", "description": "" } ], "evidence": [ { "id": "5015", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5015" } ] }, { "disease_id": "DOID:5374", "recommended_name": { "id": "DOID:5374", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5374", "name": "pilomatrixoma", "description": "" }, "synonyms": [ { "id": "DOID:5374", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5374", "name": "Pilomatricoma", "description": "" }, { "id": "DOID:5374", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5374", "name": "benign pilomatricoma", "description": "" }, { "id": "MONDO:0007564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007564", "name": "pilomatrixoma", "description": "Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome." }, { "id": "MONDO:0007564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007564", "name": "calcifying Epitherlioma of Malherbe", "description": "" }, { "id": "MONDO:0007564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007564", "name": "epithelioma calcificans of Malherbe", "description": "" }, { "id": "MONDO:0007564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007564", "name": "pilomatricoma", "description": "" }, { "id": "MONDO:0007564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007564", "name": "pilomatricoma, somatic", "description": "" }, { "id": "MONDO:0007564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007564", "name": "pilomatrixoma", "description": "" }, { "id": "MONDO:0007564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007564", "name": "pilomatrixoma, benign", "description": "" }, { "id": "MONDO:0007564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007564", "name": "benign hair follicle neoplasm", "description": "" }, { "id": "MONDO:0007564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007564", "name": "benign pilomatricoma", "description": "" }, { "id": "MONDO:0007564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007564", "name": "benign pilomatrixoma", "description": "" }, { "id": "MONDO:0007564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007564", "name": "PTR", "description": "" }, { "id": "MONDO:0007564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007564", "name": "calcifying epithelioma of Malherbe", "description": "" }, { "id": "MIM:132600", "resource": "MIM", "url": "https://www.omim.org/entry/132600", "name": "Pilomatrixoma", "description": "Pilomatrixoma" } ], "evidence": [ { "id": "5374", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5374" } ] }, { "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:687", "recommended_name": { "id": "DOID:687", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:687", "name": "hepatoblastoma", "description": "" }, "synonyms": [], "evidence": [ { "id": "687", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:687" } ] }, { "disease_id": "DOID:8719", "recommended_name": { "id": "DOID:8719", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8719", "name": "in situ carcinoma", "description": "A carcinoma that is an early development defined by the absence of invasion of surrounding tissues." }, "synonyms": [], "evidence": [ { "id": "8719", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8719" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "evidence": [ { "id": "9256", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "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": 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"database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSYMPAQNRTMSHNNQYNPPDLPPMVSAKEQTLMWQQNSYLGDSGIHSGAVTQVPSLSGKEDEEMEGDPLMFDLDTGFPQNFTQDQVDDMNQQLSQTRSQRVRAAMFPETLEEGIEIPSTQFDPQQPTAVQRLSEPSQMLKHAVVNLINYQDDAELATRAIPELIKLLNDEDQVVVSQAAMMVHQLSKKEASRHAIMNSPQMVAALVRAISNSNDLESTKAAVGTLHNLSHHRQGLLAIFKSGGIPALVKLLSSPVESVLFYAITTLHNLLLHQDGSKMAVRLAGGLQKMVTLLQRNNVKFLAIVTDCLQILAYGNQESKLIILASGGPNELVRIMRSYDYEKLLWTTSRVLKVLSVCSSNKPAIVDAGGMQALAMHLGNMSPRLVQNCLWTLRNLSDAATKVEGLEALLQSLVQVLGSTDVNVVTCAAGILSNLTCNNQRNKATVCQVGGVDALVRTIINAGDREEITEPAVCALRHLTSRHVDSELAQNAVRLNYGLSVIVKLLHPPSRWPLIKAVIGLIRNLALCPANHAPLREHGAIHHLVRLLMRAFQDTERQRSSIATTGSQQPSAYADGVRMEEIVEGTVGALHILARESHNRALIRQQSVIPIFVRLLFNEIENIQRVAAGVLCELAADKEGAEIIEQEGATGPLTDLLHSRNEGVATYAAAVLFRMSEDKPQDYKKRLSIELTNSLLREDNNIWANADLGMGPDLQDMLGPEEAYEGLYGQGPPSVHSSHGGRAFHQQGYDTLPIDSMQGLEISSPVGGGGAGGAPGNGGAVGGASGGGGNIGAIPPSGAPTSPYSMDMDVGEIDAGALNFDLDAMPTPPNDNNNLAAWYDTDC", "length": 843, "header": "sp|P18824-1|ARM_DROME Isoform 1 of Armadillo segment polarity protein OS=Drosophila melanogaster OX=7227 GN=arm PE=1 SV=1 CANONICAL=P18824-1" }, "isoforms": [ { "isoform_ac": "M9PGG4-1", "url": "", "sequence": { "sequence": "MSYMPAQNRTMSHNNQYNPPDLPPMVSAKEQTLMWQQNSYLGDSGIHSGAVTQVPSLSGKEDEEMEGDPLMFDLDTGFPQNFTQDQVDDMNQQLSQTRSQRVRAAMFPETLEEGIEIPSTQFDPQQPTAVQRLSEPSQMLKHAVVNLINYQDDAELATRAIPELIKLLNDEDQVVVSQAAMMVHQLSKKEASRHAIMNSPQMVAALVRAISNSNDLESTKAAVGTLHNLSHHRQGLLAIFKSGGIPALVKLLSSPVESVLFYAITTLHNLLLHQDGSKMAVRLAGGLQKMVTLLQRNNVKFLAIVTDCLQILAYGNQESKLIILASGGPNELVRIMRSYDYEKLLWTTSRVLKVLSVCSSNKPAIVDAGGMQALAMHLGNMSPRLVQNCLWTLRNLSDAATKVEGLEALLQSLVQVLGSTDVNVVTCAAGILSNLTCNNQRNKATVCQVGGVDALVRTIINAGDREEITEPAVCALRHLTSRHVDSELAQNAVRLNYGLSVIVKLLHPPSRWPLIKAVIGLIRNLALCPANHAPLREHGAIHHLVRLLMRAFQDTERQRSSIATTGSQQPSAYADGVRMEEIVEGTVGALHILARESHNRALIRQQSVIPIFVRLLFNEIENIQRVAAGVLCELAADKEGAEIIEQEGATGPLTDLLHSRNEGVATYAAAVLFRMSEDKPQDYKKRLSIELTNSLLREDNNIWANADLGMGPDLQDMLGPEEAYEGLYGQGPPSVHSSHGGRAFHQQGYDTLPIDSMQGLEISSPVGGGGAGGAPGNGGAVGGASGGGGNIGAIPPSGAPTSPYSMDMDVGEIDAGALNFDLDAMPTPPNDNNNLAAWYDTDC", "length": 843, "header": "tr|M9PGG4-1|M9PGG4_DROME Computationally mapped isoform of Armadillo segment polarity protein OS=Drosophila melanogaster OX=7227 GN=arm PE=4 SV=1 CANONICAL=P18824-1" }, "locus": {} }, { "isoform_ac": "P18824-1", "url": "", "sequence": { "sequence": "MSYMPAQNRTMSHNNQYNPPDLPPMVSAKEQTLMWQQNSYLGDSGIHSGAVTQVPSLSGKEDEEMEGDPLMFDLDTGFPQNFTQDQVDDMNQQLSQTRSQRVRAAMFPETLEEGIEIPSTQFDPQQPTAVQRLSEPSQMLKHAVVNLINYQDDAELATRAIPELIKLLNDEDQVVVSQAAMMVHQLSKKEASRHAIMNSPQMVAALVRAISNSNDLESTKAAVGTLHNLSHHRQGLLAIFKSGGIPALVKLLSSPVESVLFYAITTLHNLLLHQDGSKMAVRLAGGLQKMVTLLQRNNVKFLAIVTDCLQILAYGNQESKLIILASGGPNELVRIMRSYDYEKLLWTTSRVLKVLSVCSSNKPAIVDAGGMQALAMHLGNMSPRLVQNCLWTLRNLSDAATKVEGLEALLQSLVQVLGSTDVNVVTCAAGILSNLTCNNQRNKATVCQVGGVDALVRTIINAGDREEITEPAVCALRHLTSRHVDSELAQNAVRLNYGLSVIVKLLHPPSRWPLIKAVIGLIRNLALCPANHAPLREHGAIHHLVRLLMRAFQDTERQRSSIATTGSQQPSAYADGVRMEEIVEGTVGALHILARESHNRALIRQQSVIPIFVRLLFNEIENIQRVAAGVLCELAADKEGAEIIEQEGATGPLTDLLHSRNEGVATYAAAVLFRMSEDKPQDYKKRLSIELTNSLLREDNNIWANADLGMGPDLQDMLGPEEAYEGLYGQGPPSVHSSHGGRAFHQQGYDTLPIDSMQGLEISSPVGGGGAGGAPGNGGAVGGASGGGGNIGAIPPSGAPTSPYSMDMDVGEIDAGALNFDLDAMPTPPNDNNNLAAWYDTDC", "length": 843, "header": "sp|P18824-1|ARM_DROME Isoform 1 of Armadillo segment polarity protein OS=Drosophila melanogaster OX=7227 GN=arm PE=1 SV=1 CANONICAL=P18824-1" }, "locus": { "chromosome": "X", "start_pos": 1899010, "end_pos": 1891833, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0089989", "url": "https://www.ensembl.org/id/FBtr0089989" }, { "database": "Ensembl Peptide", "id": "FBpp0089032", "url": "https://www.ensembl.org/id/FBpp0089032" } ] } }, { "isoform_ac": "P18824-2", "url": "", "sequence": { "sequence": "MSYMPAQNRTMSHNNQYNPPDLPPMVSAKEQTLMWQQNSYLGDSGIHSGAVTQVPSLSGKEDEEMEGDPLMFDLDTGFPQNFTQDQVDDMNQQLSQTRSQRVRAAMFPETLEEGIEIPSTQFDPQQPTAVQRLSEPSQMLKHAVVNLINYQDDAELATRAIPELIKLLNDEDQVVVSQAAMMVHQLSKKEASRHAIMNSPQMVAALVRAISNSNDLESTKAAVGTLHNLSHHRQGLLAIFKSGGIPALVKLLSSPVESVLFYAITTLHNLLLHQDGSKMAVRLAGGLQKMVTLLQRNNVKFLAIVTDCLQILAYGNQESKLIILASGGPNELVRIMRSYDYEKLLWTTSRVLKVLSVCSSNKPAIVDAGGMQALAMHLGNMSPRLVQNCLWTLRNLSDAATKVEGLEALLQSLVQVLGSTDVNVVTCAAGILSNLTCNNQRNKATVCQVGGVDALVRTIINAGDREEITEPAVCALRHLTSRHVDSELAQNAVRLNYGLSVIVKLLHPPSRWPLIKAVIGLIRNLALCPANHAPLREHGAIHHLVRLLMRAFQDTERQRSSIATTGSQQPSAYADGVRMEEIVEGTVGALHILARESHNRALIRQQSVIPIFVRLLFNEIENIQRVAAGVLCELAADKEGAEIIEQEGATGPLTDLLHSRNEGVATYAAAVLFRMSEDKPQDYKKRLSIELTNSLLREDNNIWANADLGMGPDLQDMILYQ", "length": 721, "header": "sp|P18824-2|ARM_DROME Isoform 2 of Armadillo segment polarity protein OS=Drosophila melanogaster OX=7227 GN=arm PE=1 SV=1 CANONICAL=P18824-1" }, "locus": { "chromosome": "X", "start_pos": 1899010, "end_pos": 1892102, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0089990", "url": "https://www.ensembl.org/id/FBtr0089990" }, { "database": "Ensembl Peptide", "id": "FBpp0089033", "url": "https://www.ensembl.org/id/FBpp0089033" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 150, "end_pos": 150, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P18824", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P18824" }, { "database": "PubMed", "id": "25803041", "url": "https://glygen.org/publication/PubMed/25803041" } ], "site_lbl": "Tyr150" }, { "start_pos": 44, "end_pos": 44, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P18824", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P18824" }, { "database": "PubMed", "id": "14966281", "url": "https://glygen.org/publication/PubMed/14966281" } ], "site_lbl": "Ser44" }, { "start_pos": 48, "end_pos": 48, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P18824", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P18824" }, { "database": "PubMed", "id": "14966281", "url": "https://glygen.org/publication/PubMed/14966281" } ], "site_lbl": "Ser48" }, { "start_pos": 52, "end_pos": 52, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P18824", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P18824" }, { "database": "PubMed", "id": "14966281", "url": "https://glygen.org/publication/PubMed/14966281" } ], "site_lbl": "Thr52" }, { "start_pos": 56, "end_pos": 56, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "P18824", "url": 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