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"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: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: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: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: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:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO: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: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: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: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:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs869312303", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312303" }, { "id": "rs869312303", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs869312303" } ], "glycoeffect": [], "start_pos": 15, "end_pos": 15, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101407861", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A15", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", 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