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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110637" } ] }, { "disease_id": "DOID:0110637", "recommended_name": { "id": "DOID:0110637", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110637", "name": "muscular dystrophy-dystroglycanopathy type B6", "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12." }, "synonyms": [ { "id": "DOID:0110637", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110637", "name": "MDC1D", "description": "" }, { "id": "DOID:0110637", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110637", "name": "MDDGB6", "description": "" }, { "id": "DOID:0110637", "resource": "Disease Ontology", "url": 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"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:0110637", "recommended_name": { "id": "DOID:0110637", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110637", "name": "muscular dystrophy-dystroglycanopathy type B6", "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12." }, "synonyms": [ { "id": "DOID:0110637", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110637", "name": "MDC1D", "description": "" }, { "id": "DOID:0110637", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110637", "name": "MDDGB6", "description": "" }, { "id": "DOID:0110637", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110637", "name": "congenital muscular dystrophy LARGE-related", "description": "" }, { "id": "DOID:0110637", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110637", "name": "congenital muscular dystrophy type 1D", "description": "" }, { "id": "DOID:0110637", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110637", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6", "description": "" }, { "id": "DOID:0110637", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110637", "name": "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6", "description": "" }, { "id": "MONDO:0012138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138", "name": "muscular dystrophy-dystroglycanopathy type B6", "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12." }, { "id": "MONDO:0012138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138", "name": "MDC1D", "description": "" }, { "id": "MONDO:0012138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138", "name": "MDDGB6", "description": "" }, { "id": "MONDO:0012138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138", "name": "congenital muscular dystrophy large-related", "description": "" }, { "id": "MONDO:0012138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138", "name": "congenital muscular dystrophy type 1D", "description": "" }, { "id": "MONDO:0012138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 6", "description": "" }, { "id": "MONDO:0012138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6", "description": "" }, { "id": "MONDO:0012138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138", "name": "muscular dystrophy, congenital, large-related", "description": "" }, { "id": "MONDO:0012138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138", "name": "muscular dystrophy, congenital, type 1D", "description": "" }, { "id": "MIM:608840", "resource": "MIM", "url": "https://www.omim.org/entry/608840", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B6", "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B6" } ], "unlinked_id_list": [], "evidence": [ { "id": "0012138", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138" }, { "id": "608840", "database": "MIM", "url": "https://www.omim.org/entry/608840" }, { "id": "LARGE1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/LARGE1/#!details" }, { "id": "9215", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/9215#disease" }, { "id": "0110637", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110637" } ] }, { "disease_id": "DOID:0110637", "recommended_name": { "id": "DOID:0110637", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110637", "name": "muscular dystrophy-dystroglycanopathy type B6", "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12." }, "synonyms": [ { "id": "DOID:0110637", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110637", "name": "MDC1D", "description": "" }, { "id": "DOID:0110637", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110637", "name": "MDDGB6", "description": "" }, { "id": "DOID:0110637", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110637", "name": "congenital muscular dystrophy LARGE-related", "description": "" }, { "id": "DOID:0110637", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110637", "name": "congenital muscular dystrophy type 1D", "description": "" }, { "id": "DOID:0110637", "resource": 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"https://monarchinitiative.org/disease/MONDO:0012138", "name": "MDC1D", "description": "" }, { "id": "MONDO:0012138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138", "name": "MDDGB6", "description": "" }, { "id": "MONDO:0012138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138", "name": "congenital muscular dystrophy large-related", "description": "" }, { "id": "MONDO:0012138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138", "name": "congenital muscular dystrophy type 1D", "description": "" }, { "id": "MONDO:0012138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 6", "description": "" }, { "id": "MONDO:0012138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138", "name": "muscular dystrophy-dystroglycanopathy (congenital 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"url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/LARGE1/#!details" }, { "id": "9215", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/9215#disease" }, { "id": "0110637", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110637" } ] }, { "disease_id": "DOID:0110637", "recommended_name": { "id": "DOID:0110637", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110637", "name": "muscular dystrophy-dystroglycanopathy type B6", "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12." }, "synonyms": [ { "id": "DOID:0110637", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110637", "name": "MDC1D", "description": "" }, { "id": "DOID:0110637", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110637", "name": "MDDGB6", "description": "" }, { "id": "DOID:0110637", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110637", "name": "congenital muscular dystrophy LARGE-related", "description": "" }, { "id": "DOID:0110637", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110637", "name": "congenital muscular dystrophy type 1D", "description": "" }, { "id": "DOID:0110637", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110637", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6", "description": "" }, { "id": "DOID:0110637", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110637", "name": "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6", "description": "" }, { "id": "MONDO:0012138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138", "name": "muscular dystrophy-dystroglycanopathy type B6", "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12." }, { "id": "MONDO:0012138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138", "name": "MDC1D", "description": "" }, { "id": "MONDO:0012138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138", "name": "MDDGB6", "description": "" }, { "id": "MONDO:0012138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138", "name": "congenital muscular dystrophy large-related", "description": "" }, { "id": "MONDO:0012138", "resource": "MONDO", "url": 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