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"https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], 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"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": 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{ "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:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs752541064", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752541064" }, { "id": "rs752541064", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752541064" }, { "id": "rs752541064", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752541064#frequency_tab" }, { "id": "rs752541064", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752541064" } ], "glycoeffect": [], "start_pos": 220, "end_pos": 220, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12663808", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R220", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00754", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00754" } ], "glycoeffect": [], "start_pos": 221, "end_pos": 221, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "I", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "19", "chr_pos": "12663805", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L221", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", 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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": 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"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:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, 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"sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12663726", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P247", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00754", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00754" }, { "id": "rs1437494943", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1437494943" }, { "id": "rs1437494943", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1437494943#frequency_tab" }, { "id": "rs1437494943", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1437494943" } ], "glycoeffect": [], "start_pos": 247, "end_pos": 247, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "All mutations pass selection filters for glycohydrolase 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