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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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1218000813", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1218000813" }, { "id": "rs1218000813", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1218000813#frequency_tab" }, { "id": "rs1218000813", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1218000813" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 457, "end_pos": 457, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44197893", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T457", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1218000813", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1218000813" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 457, "end_pos": 457, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44197893", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T457", "disease": [ { "disease_id": "DOID:206", "recommended_name": { "id": "DOID:206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:206", "name": "hereditary multiple exostoses", "description": "An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth." }, "synonyms": [ { "id": "DOID:206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:206", "name": "Multiple congenital exostosis", "description": "" }, { "id": "DOID:206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:206", "name": "Multiple exostosis syndromes", "description": "" }, { "id": "DOID:206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:206", "name": "Osteochondromatosis syndrome", "description": "" }, { "id": "DOID:206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:206", "name": "hereditary multiple exostoses 1", "description": "" }, { "id": "DOID:206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:206", "name": "hereditary multiple exostoses 2", "description": "" }, { "id": "DOID:206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:206", "name": "hereditary multiple exostoses 3", "description": "" }, { "id": "DOID:206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:206", "name": "multiple ostechondromas", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "exostoses, multiple, type 1", "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene." }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "EXT1 exostoses, multiple", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "exostoses, multiple caused by mutation in EXT1", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "exostoses, multiple, type 1", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "EXT", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "diaphyseal Aclasis", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "exostoses, multiple, type I", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "multiple cartilaginous exostoses", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "multiple osteochondromas", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "osteochondromatosis", "description": "" }, { "id": "MONDO:0007586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007586", "name": "exostoses, multiple, type 2", "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes." }, { "id": "MONDO:0007586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007586", "name": "EXT2 Gene", "description": "" }, { "id": "MONDO:0007586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007586", "name": "EXT2 exostoses, multiple", "description": "" }, { "id": "MONDO:0007586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007586", "name": "exostoses (Multiple) 2 Gene", "description": "" }, { "id": "MONDO:0007586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007586", "name": "exostoses, multiple caused by mutation in EXT2", "description": "" }, { "id": "MONDO:0007586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007586", "name": "exostoses, multiple, type 2", "description": "" }, { "id": "MONDO:0007586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007586", "name": "Ext2", "description": "" }, { "id": "MONDO:0007586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007586", "name": "exostoses, multiple, type II", "description": "" }, { "id": "MONDO:0010846", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010846", "name": "exostoses, multiple, type III", "description": "" }, { "id": "MONDO:0010846", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010846", "name": "EXT3", "description": "" }, { "id": "MONDO:0010846", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010846", "name": "exostoses, multiple, type III", "description": "" }, { "id": "MONDO:0010846", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010846", "name": "exostoses, multiple, type 3", "description": "" }, { "id": "MIM:133700", "resource": "MIM", "url": "https://www.omim.org/entry/133700", "name": "Hereditary multiple exostoses 1", "description": "Hereditary multiple exostoses 1" }, { "id": "MIM:133701", "resource": "MIM", "url": "https://www.omim.org/entry/133701", "name": "Hereditary multiple exostoses 2", "description": "Hereditary multiple exostoses 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:206" }, { "id": "206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:206" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1590639861", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1590639861" }, { "id": "rs1590639861", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1590639861" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 457, "end_pos": 457, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44197892", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T457", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs146086025", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146086025" }, { "id": "rs146086025", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146086025" }, { "id": "rs146086025", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs146086025#frequency_tab" }, { "id": "rs146086025", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs146086025" } ], "glycoeffect": [], "start_pos": 458, "end_pos": 458, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44197895", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A458", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs146086025", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146086025" }, { "id": "rs146086025", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146086025" }, { "id": "rs146086025", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs146086025#frequency_tab" }, { "id": "rs146086025", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs146086025" } ], "glycoeffect": [], "start_pos": 458, "end_pos": 458, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44197895", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A458", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs146086025", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146086025" }, { "id": "rs146086025", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146086025" }, { "id": "rs146086025", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs146086025#frequency_tab" }, { "id": "rs146086025", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs146086025" }, { "id": "rs146086025", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs146086025" } ], "glycoeffect": [], "start_pos": 458, "end_pos": 458, "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44197895", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A458", "disease": [ { "disease_id": "DOID:206", "recommended_name": { "id": "DOID:206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:206", "name": "hereditary multiple exostoses", "description": "An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth." }, "synonyms": [ { "id": "DOID:206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:206", "name": "Multiple congenital exostosis", "description": "" }, { "id": "DOID:206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:206", "name": "Multiple exostosis syndromes", "description": "" }, { "id": "DOID:206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:206", "name": "Osteochondromatosis syndrome", "description": "" }, { "id": "DOID:206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:206", "name": "hereditary multiple exostoses 1", "description": "" }, { "id": "DOID:206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:206", "name": "hereditary multiple exostoses 2", "description": "" }, { "id": "DOID:206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:206", "name": "hereditary multiple exostoses 3", "description": "" }, { "id": "DOID:206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:206", "name": "multiple ostechondromas", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "exostoses, multiple, type 1", "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene." }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "EXT1 exostoses, multiple", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "exostoses, multiple caused by mutation in EXT1", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "exostoses, multiple, type 1", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "EXT", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "diaphyseal Aclasis", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "exostoses, multiple, type I", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "multiple cartilaginous exostoses", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "multiple osteochondromas", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "osteochondromatosis", 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"http://disease-ontology.org/term/DOID:206", "name": "Multiple congenital exostosis", "description": "" }, { "id": "DOID:206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:206", "name": "Multiple exostosis syndromes", "description": "" }, { "id": "DOID:206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:206", "name": "Osteochondromatosis syndrome", "description": "" }, { "id": "DOID:206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:206", "name": "hereditary multiple exostoses 1", "description": "" }, { "id": "DOID:206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:206", "name": "hereditary multiple exostoses 2", "description": "" }, { "id": "DOID:206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:206", "name": "hereditary multiple exostoses 3", "description": "" }, { "id": "DOID:206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:206", "name": "multiple ostechondromas", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "exostoses, multiple, type 1", "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene." }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "EXT1 exostoses, multiple", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "exostoses, multiple caused by mutation in EXT1", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "exostoses, multiple, type 1", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "EXT", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "diaphyseal Aclasis", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "exostoses, multiple, type I", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "multiple cartilaginous exostoses", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "multiple osteochondromas", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "osteochondromatosis", "description": "" }, { "id": "MONDO:0007586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007586", "name": "exostoses, multiple, type 2", "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes." }, { "id": "MONDO:0007586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007586", "name": "EXT2 Gene", "description": "" }, { "id": "MONDO:0007586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007586", "name": "EXT2 exostoses, multiple", "description": "" }, { "id": "MONDO:0007586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007586", "name": "exostoses (Multiple) 2 Gene", "description": "" }, { "id": "MONDO:0007586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007586", "name": "exostoses, multiple caused by mutation in EXT2", "description": "" }, { "id": "MONDO:0007586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007586", "name": "exostoses, multiple, type 2", "description": "" }, { "id": "MONDO:0007586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007586", "name": "Ext2", "description": "" }, { "id": "MONDO:0007586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007586", "name": "exostoses, multiple, type II", "description": "" }, { "id": "MONDO:0010846", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010846", "name": "exostoses, multiple, type III", "description": "" }, { "id": "MONDO:0010846", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010846", "name": "EXT3", "description": "" }, { "id": "MONDO:0010846", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010846", "name": "exostoses, multiple, type III", "description": "" }, { "id": "MONDO:0010846", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010846", "name": "exostoses, multiple, type 3", "description": "" }, { "id": "MIM:133700", "resource": "MIM", "url": "https://www.omim.org/entry/133700", "name": "Hereditary multiple exostoses 1", "description": "Hereditary multiple exostoses 1" }, { "id": "MIM:133701", "resource": "MIM", "url": "https://www.omim.org/entry/133701", "name": "Hereditary multiple exostoses 2", "description": "Hereditary multiple exostoses 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:206" }, { "id": "206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:206" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ] } }