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}, { "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" } ] }, { "disease_id": "DOID:10587", "recommended_name": { "id": "DOID:10587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10587", "name": "Krabbe disease", "description": "" }, "synonyms": [ { "id": "DOID:10587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10587", "name": "Diffuse globoid body sclerosis", "description": "" }, { "id": "DOID:10587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10587", "name": "GLOBOID CELL LEUKOENCEPHALOPATHY", "description": "" }, { "id": "DOID:10587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10587", "name": "Galactosylceramide beta-galactosidase deficiency", "description": "" }, { "id": "DOID:10587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10587", "name": "Krabbe's disease", "description": "" }, { "id": "DOID:10587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10587", "name": "Krabbe's leukodystrophy", "description": "" }, { "id": "DOID:10587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10587", "name": "beta galactocerebrosidase deficiency", "description": "" }, { "id": "DOID:10587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10587", "name": "globoid cell leukodystrophy", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "Krabbe disease", "description": "A lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "GALC deficiency", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "GALC enzyme deficiency", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "Krabbe disease", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "Krabbe's disease", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "Krabbe's leukodystrophy", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "Leukodystrophy, Krabbe's", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "beta galactocerebrosidase deficiency", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "diffuse globoid body sclerosis", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "galactocerebrosidase deficiency", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "galactosylceramidase deficiency", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "galactosylceramide lipidosis", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "globoid cell leukodystrophy", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "globoid cell leukoencephalopathy", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "later onset Krabbe disease", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "later-onset Krabbe disease", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "GLD", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "Krabbe leukodystrophy", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "galactosylceramide Beta-galactosidase deficiency", "description": "" }, { "id": "MIM:245200", "resource": "MIM", "url": "https://www.omim.org/entry/245200", "name": "Krabbe disease", "description": "Krabbe disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "10587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10587" } ] }, { "disease_id": "DOID:10587", "recommended_name": { "id": "DOID:10587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10587", "name": "Krabbe disease", "description": "" }, "synonyms": [ { "id": "DOID:10587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10587", "name": "Diffuse globoid body sclerosis", "description": "" }, { "id": "DOID:10587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10587", "name": "GLOBOID CELL LEUKOENCEPHALOPATHY", "description": "" }, { "id": "DOID:10587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10587", "name": "Galactosylceramide beta-galactosidase deficiency", "description": "" }, { "id": "DOID:10587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10587", "name": "Krabbe's disease", "description": "" }, { "id": "DOID:10587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10587", "name": "Krabbe's leukodystrophy", "description": "" }, { "id": "DOID:10587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10587", "name": "beta galactocerebrosidase deficiency", "description": "" }, { "id": "DOID:10587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10587", "name": "globoid cell leukodystrophy", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "Krabbe disease", "description": "A lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "GALC deficiency", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "GALC enzyme deficiency", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "Krabbe disease", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "Krabbe's disease", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "Krabbe's leukodystrophy", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "Leukodystrophy, Krabbe's", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "beta galactocerebrosidase deficiency", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "diffuse globoid body sclerosis", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "galactocerebrosidase deficiency", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "galactosylceramidase deficiency", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "galactosylceramide lipidosis", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "globoid cell leukodystrophy", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "globoid cell leukoencephalopathy", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "later onset Krabbe disease", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "later-onset Krabbe disease", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "GLD", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "Krabbe leukodystrophy", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "galactosylceramide Beta-galactosidase deficiency", "description": "" }, { "id": "MIM:245200", "resource": "MIM", "url": "https://www.omim.org/entry/245200", "name": "Krabbe disease", "description": "Krabbe disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "10587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10587" } ] }, { "disease_id": "DOID:10587", "recommended_name": { "id": "DOID:10587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10587", "name": "Krabbe disease", "description": "" }, "synonyms": [ { "id": "DOID:10587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10587", "name": "Diffuse globoid body sclerosis", "description": "" }, { "id": "DOID:10587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10587", "name": "GLOBOID CELL LEUKOENCEPHALOPATHY", "description": "" }, { "id": "DOID:10587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10587", "name": "Galactosylceramide beta-galactosidase deficiency", "description": "" }, { "id": "DOID:10587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10587", "name": "Krabbe's disease", "description": "" }, { "id": "DOID:10587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10587", "name": "Krabbe's leukodystrophy", "description": "" }, { "id": "DOID:10587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10587", "name": "beta galactocerebrosidase deficiency", "description": "" }, { "id": "DOID:10587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10587", "name": "globoid cell leukodystrophy", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "Krabbe disease", "description": "A lysosomal disorder that affects the white matter of 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}, { "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" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P54803", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P54803" }, { "id": "rs190921137", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs190921137" }, { "id": "rs190921137", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs190921137" }, { "id": "rs190921137", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs190921137" }, { "id": "rs190921137", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs190921137#frequency_tab" }, { "id": "rs190921137", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs190921137" } ], "glycoeffect": [], "start_pos": 333, "end_pos": 333, "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "14", "chr_pos": "87965541", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G333", "disease": [ { "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:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "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: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" } ] }, { "disease_id": "DOID:10587", "recommended_name": { "id": "DOID:10587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10587", "name": "Krabbe disease", "description": "" }, "synonyms": [ { "id": "DOID:10587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10587", "name": "Diffuse globoid body sclerosis", "description": "" }, { "id": "DOID:10587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10587", "name": "GLOBOID CELL LEUKOENCEPHALOPATHY", "description": "" }, { "id": "DOID:10587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10587", "name": "Galactosylceramide beta-galactosidase deficiency", "description": "" }, { "id": "DOID:10587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10587", "name": "Krabbe's disease", "description": "" }, { "id": "DOID:10587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10587", "name": "Krabbe's leukodystrophy", "description": "" }, { "id": "DOID:10587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10587", "name": "beta galactocerebrosidase deficiency", "description": "" }, { "id": "DOID:10587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10587", "name": "globoid cell leukodystrophy", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "Krabbe disease", "description": "A lysosomal disorder that affects the white matter of the central and peripheral nervous systems. 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